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Entry
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- #300624 - FRAGILE X SYNDROME; FXS
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- OMIM
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<p>
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<span class="h4">#300624</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="/clinicalSynopsis/300624"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS309510"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#otherFeatures">Other Features</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=FRAGILE X SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=120&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1384/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/2906" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300624[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=908" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/d620e17d-79ba-4353-ba8e-87f0f96fb8f4/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:14261" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/300624" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/results?search_type=advanced&omia_id=000391,002455" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:14261" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:300624" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 613003<br />
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<strong>ICD10CM:</strong> Q99.2<br />
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<strong>ICD9CM:</strong> 759.83<br />
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<strong>ORPHA:</strong> 908<br />
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<strong>DO:</strong> 14261<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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300624
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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FRAGILE X SYNDROME; FXS
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
MARTIN-BELL SYNDROME<br />
|
|
MARKER X SYNDROME<br />
|
|
FRAGILE X MENTAL RETARDATION SYNDROME<br />
|
|
MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28<br />
|
|
X-LINKED MENTAL RETARDATION AND MACROORCHIDISM
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/769?start=-3&limit=10&highlight=769">
|
|
Xq27.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Fragile X syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300624"> 300624 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
FMR1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309550"> 309550 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/300624" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS309510" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/300624" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/300624" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked dominant <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847879&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847879</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Macrocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12138000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12138000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1145403003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1145403003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221355</a>, <a href="https://bioportal.bioontology.org/search?q=C2243051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2243051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001355</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Macrocephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Coarse facies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845847&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845847</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span><br /> -
|
|
Large forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839783&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839783</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002003</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002003</a>]</span><br /> -
|
|
Long face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836047&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836047</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000276</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000276</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=729bf273c6a346c2f07ab0965824ffb2" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Face,Long-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=729bf273c6a346c2f07ab0965824ffb2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Prominent jaw <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72855002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72855002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109504005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109504005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22810007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22810007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.213</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0399526&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0399526</a>, <a href="https://bioportal.bioontology.org/search?q=C0033324&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033324</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Large ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275480001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275480001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0554972&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0554972</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000400" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000400</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000400" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000400</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mitral valve prolapse <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409712001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409712001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8074002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8074002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026267&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026267</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001634</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001634</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mild dilatation of ascending aorta <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5562987&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5562987</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253645007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253645007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004970" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004970</a>]</span><br />
|
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pectus excavatum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/391987005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">391987005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/391982004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">391982004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016842&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016842</a>, <a href="https://bioportal.bioontology.org/search?q=C2051831&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2051831</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000767" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000767</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000767" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000767</a>]</span><br />
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</span>
|
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</div>
|
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</div>
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Genitalia (Male) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Macroorchidism, postpubertal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839782&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839782</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002050" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002050</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002050" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002050</a>]</span><br /> -
|
|
Congenital macroorchidism (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4024650&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4024650</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008640</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008640</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
</div>
|
|
|
|
</div>
|
|
|
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|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Joint laxity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298203008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298203008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/788453008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">788453008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862377</a>, <a href="https://bioportal.bioontology.org/search?q=C0086437&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086437</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pes planus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23407003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23407003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/203534009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">203534009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53226007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53226007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.61</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">734</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016202&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016202</a>, <a href="https://bioportal.bioontology.org/search?q=C0392477&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392477</a>, <a href="https://bioportal.bioontology.org/search?q=C0264133&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264133</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001763" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001763</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001763" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001763</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=1f893093d35c2d1df583eed57a47b6cb" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Pes_Planus-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=1f893093d35c2d1df583eed57a47b6cb" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mental retardation (moderate to severe in males) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839781&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839781</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
|
|
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
|
|
Abnormal head movements <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271799000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271799000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R25.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R25.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0476217&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0476217</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002457" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002457</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002457" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002457</a>]</span><br /> -
|
|
Periventricular heterotopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/816068000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">816068000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5399973&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5399973</a>, <a href="https://bioportal.bioontology.org/search?q=C1868720&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868720</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007165" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007165</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0032388" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032388</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007165" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007165</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Behavioral Psychiatric Manifestations </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hyperactive behavior <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44548000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44548000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424295</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000752" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000752</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000752" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000752</a>]</span><br /> -
|
|
Poor eye contact <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/412786000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">412786000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1445953&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1445953</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000817" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000817</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000817" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000817</a>]</span><br /> -
|
|
Autistic features <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846135&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846135</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000729" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000729</a>]</span><br />
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|
|
</span>
|
|
</div>
|
|
</div>
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</div>
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|
</div>
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|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Folate-dependent fragile site at Xq28 <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839785&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839785</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003564" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003564</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003564" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003564</a>]</span><br />
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|
|
</span>
|
|
</div>
|
|
|
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</div>
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|
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Incomplete penetrance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span><br /> -
|
|
50% of females have learning disability or mild mental retardation<br /> -
|
|
Prevalence approximately 1 in 4,000 males<br /> -
|
|
Most cases (98%) caused by expanded trinucleotide repeat (CGG)n in the FMR1 gene (<a href="/entry/309550#0004">309550.0004</a>)<br /> -
|
|
Repeat is unstable if > 52 repeats<br /> -
|
|
Symptomatic if > 200 repeats<br /> -
|
|
Some boys with premutations (55 to 200 repeats) may show milder features, including autistic features<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
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|
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the fragile X messenger ribonucleoprotein gene (FMR1, <a href="/entry/309550#0001">309550.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
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|
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|
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|
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Intellectual developmental disorder, X-linked syndromic
|
|
- <a href="/phenotypicSeries/PS309510">PS309510</a>
|
|
- 56 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/53?start=-3&limit=10&highlight=53"> Xp22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300114"> Raynaud-Claes syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300114"> 300114 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/302910"> CLCN4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/302910"> 302910 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/58?start=-3&limit=10&highlight=58"> Xp22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/301032"> Basilicata-Akhtar syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/301032"> 301032 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300609"> MSL3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300609"> 300609 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/73?start=-3&limit=10&highlight=73"> Xp22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/301076"> Intellectual developmental disorder, X-linked syndromic, Pilorge type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/301076"> 301076 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/305990"> GLRA2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/305990"> 305990 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/87?start=-3&limit=10&highlight=87"> Xp22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/304340"> Pettigrew syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/304340"> 304340 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300629"> AP1S2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300629"> 300629 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/110?start=-3&limit=10&highlight=110"> Xp22.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/301008"> Intellectual developmental disorder, X-linked syndromic, Houge type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/301008"> 301008 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300724"> CNKSR2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300724"> 300724 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/114?start=-3&limit=10&highlight=114"> Xp22.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309583"> Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309583"> 309583 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300105"> SMS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300105"> 300105 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
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<tr>
|
|
<td>
|
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<span class="mim-font">
|
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|
|
<a href="/geneMap/X/124?start=-3&limit=10&highlight=124"> Xp22.11 </a>
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|
|
|
</span>
|
|
</td>
|
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<td>
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<span class="mim-font">
|
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<a href="/entry/300148"> MEHMO syndrome </a>
|
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</span>
|
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</td>
|
|
<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/300148"> 300148 </a>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/300161"> EIF2S3 </a>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/300161"> 300161 </a>
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</span>
|
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</td>
|
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/125?start=-3&limit=10&highlight=125"> Xp22.11 </a>
|
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|
|
</span>
|
|
</td>
|
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<td>
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<span class="mim-font">
|
|
<a href="/entry/301118"> Intellectual developmental disorder, X-linked syndromic 37 </a>
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/301118"> 301118 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/314980"> ZFX </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/314980"> 314980 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/128?start=-3&limit=10&highlight=128"> Xp22.11-p21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/301030"> Van Esch-O'Driscoll syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/301030"> 301030 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/312040"> POLA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/312040"> 312040 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/132?start=-3&limit=10&highlight=132"> Xp21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309510"> Partington syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309510"> 309510 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300382"> ARX </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300382"> 300382 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/150?start=-3&limit=10&highlight=150"> Xp21.1-p11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300858"> Intellectual developmental disorder, X-linked syndromic 17 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300858"> 300858 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300858"> MRXS17 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300858"> 300858 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/161?start=-3&limit=10&highlight=161"> Xp11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309545"> ?Intellectual developmental disorder, X-linked syndromic 12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309545"> 309545 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309545"> MRXS12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309545"> 309545 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/173?start=-3&limit=10&highlight=173"> Xp11.4 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300423"> Intellectual developmental disorder, X-linked syndromic, Hedera type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300423"> 300423 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300556"> ATP6AP2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300556"> 300556 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/178?start=-3&limit=10&highlight=178"> Xp11.4 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300958"> Intellectual developmental disorder, X-linked syndromic, Snijders Blok type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>, <abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300958"> 300958 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300160"> DDX3X </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300160"> 300160 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/180?start=-3&limit=10&highlight=180"> Xp11.4 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300749"> Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300749"> 300749 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300172"> CASK </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300172"> 300172 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/185?start=-3&limit=10&highlight=185"> Xp11.3-q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300218"> Intellectual developmental disorder, X-linked syndromic 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300218"> 300218 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300218"> MRXS7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300218"> 300218 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/231?start=-3&limit=10&highlight=231"> Xp11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300434"> Intellectual developmental disorder, X-linked, syndromic, Stocco dos Santos type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300434"> 300434 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300434"> SDSX </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300434"> 300434 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/261?start=-3&limit=10&highlight=261"> Xp11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309500"> Renpenning syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309500"> 309500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300463"> PQBP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300463"> 300463 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/323?start=-3&limit=10&highlight=323"> Xp11.22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300534"> Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300534"> 300534 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/314690"> KDM5C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/314690"> 314690 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
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<tr>
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<td>
|
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<span class="mim-font">
|
|
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|
<a href="/geneMap/X/327?start=-3&limit=10&highlight=327"> Xp11.22 </a>
|
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|
</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/309590"> Intellectual developmental disorder, X-linked syndromic, Turner type </a>
|
|
</span>
|
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</td>
|
|
<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
|
<a href="/entry/309590"> 309590 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/300697"> HUWE1 </a>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/300697"> 300697 </a>
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</span>
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</td>
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</tr>
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<tr>
|
|
<td>
|
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<span class="mim-font">
|
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|
|
<a href="/geneMap/X/330?start=-3&limit=10&highlight=330"> Xp11.22 </a>
|
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|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300263"> Intellectual developmental disorder, X-linked syndromic, Siderius type </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/300263"> 300263 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300560"> PHF8 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300560"> 300560 </a>
|
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</span>
|
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</td>
|
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</tr>
|
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|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/332?start=-3&limit=10&highlight=332"> Xp11.22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309610"> Prieto syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309610"> 309610 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300358"> WNK3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300358"> 300358 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/334?start=-3&limit=10&highlight=334"> Xp11.22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/305400"> Aarskog-Scott syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/305400"> 305400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300546"> FGD1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300546"> 300546 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/334?start=-3&limit=10&highlight=334"> Xp11.22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/305400"> Intellectual developmental disorder, X-linked syndromic 16 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/305400"> 305400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300546"> FGD1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300546"> 300546 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/368?start=-3&limit=10&highlight=368"> Xq11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/314580"> Wieacker-Wolff syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/314580"> 314580 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300897"> ZC4H2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300897"> 300897 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/370?start=-3&limit=10&highlight=370"> Xq12-q21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300709"> Intellectual developmental disorder, X-linked syndromic 9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300709"> 300709 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300709"> MRXS9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300709"> 300709 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/372?start=-3&limit=10&highlight=372"> Xq12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309585"> Wilson-Turner syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309585"> 309585 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300964"> LAS1L </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300964"> 300964 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/379?start=-3&limit=10&highlight=379"> Xq12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300486"> Intellectual developmental disorder, X-linked syndromic, Billuart type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300486"> 300486 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300127"> OPHN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300127"> 300127 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/382?start=-3&limit=10&highlight=382"> Xq13-q21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300519"> Martin-Probst syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300519"> 300519 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300519"> MRXSMP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300519"> 300519 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/390?start=-3&limit=10&highlight=390"> Xq13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300472"> ?Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300472"> 300472 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300139"> IGBP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300139"> 300139 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/404?start=-3&limit=10&highlight=404"> Xq13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309520"> Lujan-Fryns syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309520"> 309520 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300188"> MED12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300188"> 300188 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/408?start=-3&limit=10&highlight=408"> Xq13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300967"> Intellectual developmental disorder, X-linked syndromic 34 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300967"> 300967 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300084"> NONO </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300084"> 300084 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/410?start=-3&limit=10&highlight=410"> Xq13.1 </a>
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|
</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/300966"> Intellectual developmental disorder, X-linked syndromic 33 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300966"> 300966 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/313650"> TAF1 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/313650"> 313650 </a>
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</span>
|
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</td>
|
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</tr>
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/425?start=-3&limit=10&highlight=425"> Xq13.2 </a>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
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<a href="/entry/300262"> Intellectual developmental disorder, X-linked syndromic, Abidi type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300262"> 300262 </a>
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300262"> MRXSAB </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300262"> 300262 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/435?start=-3&limit=10&highlight=435"> Xq13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300978"> Tonne-Kalscheuer syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300978"> 300978 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300379"> RLIM </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300379"> 300379 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/482?start=-3&limit=10&highlight=482"> Xq21.33-q23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300861"> Intellectual developmental disorder, X-linked syndromic, Chudley-Schwartz type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300861"> 300861 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300861"> MRXSCS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300861"> 300861 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/503?start=-3&limit=10&highlight=503"> Xq22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300986"> Intellectual developmental disorder, X-linked syndromic, Bain type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300986"> 300986 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300610"> HNRNPH2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300610"> 300610 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/552?start=-3&limit=10&highlight=552"> Xq22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/301835"> Arts syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/301835"> 301835 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/311850"> PRPS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/311850"> 311850 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/612?start=-3&limit=10&highlight=612"> Xq24 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300860"> Intellectual developmental disorder, X-linked syndromic, Nascimento type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300860"> 300860 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/312180"> UBE2A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/312180"> 312180 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/617?start=-3&limit=10&highlight=617"> Xq24 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300676"> Intellectual developmental disorder, X-linked syndromic 14 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300676"> 300676 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300298"> UPF3B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300298"> 300298 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/621?start=-3&limit=10&highlight=621"> Xq24 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/301039"> Intellectual developmental disorder, X-linked syndromic, Hackman-Di Donato type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/301039"> 301039 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300766"> NKAP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300766"> 300766 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/628?start=-3&limit=10&highlight=628"> Xq24 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300354"> Intellectual developmental disorder, X-linked syndromic, Cabezas type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300354"> 300354 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300304"> CUL4B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300304"> 300304 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/650?start=-3&limit=10&highlight=650"> Xq25 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300699"> Intellectual developmental disorder, X-linked syndromic, Wu type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300699"> 300699 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/305915"> GRIA3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/305915"> 305915 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/671?start=-3&limit=10&highlight=671"> Xq26.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300799"> Intellectual developmental disorder, X-linked syndromic, Raymond type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300799"> 300799 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300646"> ZDHHC9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300646"> 300646 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/687?start=-3&limit=10&highlight=687"> Xq26.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/301025"> ?Paganini-Miozzo syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/301025"> 301025 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300545"> HS6ST2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300545"> 300545 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/696?start=-3&limit=10&highlight=696"> Xq26.2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/301900"> Borjeson-Forssman-Lehmann syndrome </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/301900"> 301900 </a>
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</span>
|
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/300414"> PHF6 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/300414"> 300414 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/X/716?start=-3&limit=10&highlight=716"> Xq26.3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/300243"> Intellectual developmental disorder, X-linked syndromic, Christianson type </a>
|
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</span>
|
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</td>
|
|
<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
|
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</td>
|
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<td>
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<span class="mim-font">
|
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<a href="/entry/300243"> 300243 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/300231"> SLC9A6 </a>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/300231"> 300231 </a>
|
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</span>
|
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</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
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|
<a href="/geneMap/X/726?start=-3&limit=10&highlight=726"> Xq26.3 </a>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300238"> ?Intellectual developmental disorder, X-linked syndromic, Shashi type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300238"> 300238 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300199"> RBMX </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300199"> 300199 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/726?start=-3&limit=10&highlight=726"> Xq26.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309555"> ?Intellectual developmental disorder, X-linked syndromic, Gustavson type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309555"> 309555 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300199"> RBMX </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300199"> 300199 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/769?start=-3&limit=10&highlight=769"> Xq27.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300624"> Fragile X syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300624"> 300624 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309550"> FMR1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309550"> 309550 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/782?start=-3&limit=10&highlight=782"> Xq28 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309548"> Intellectual developmental disorder, X-linked 109 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309548"> 309548 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300806"> AFF2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300806"> 300806 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/851?start=-3&limit=10&highlight=851"> Xq28 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300260"> Intellectual developmental disorder, X-linked syndromic, Lubs type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300260"> 300260 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300005"> MECP2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300005"> 300005 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/851?start=-3&limit=10&highlight=851"> Xq28 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300055"> Intellectual developmental disorder, X-linked syndromic 13 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300055"> 300055 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300005"> MECP2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300005"> 300005 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/859?start=-3&limit=10&highlight=859"> Xq28 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300998"> Intellectual developmental disorder, X-linked syndromic 35 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300998"> 300998 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/312173"> RPL10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/312173"> 312173 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/864?start=-3&limit=10&highlight=864"> Xq28 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300261"> Intellectual developmental disorder, X-linked syndromic, Armfield type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300261"> 300261 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300453"> FAM50A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300453"> 300453 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/898?start=-3&limit=10&highlight=898"> Chr.X </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300886"> Intellectual developmental disorder, X-linked, syndromic 32 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300886"> 300886 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300886"> MRXS32 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300886"> 300886 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
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|
|
</tbody>
|
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</table>
|
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</div>
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<div class="text-right small">
|
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because fragile X syndrome (FXS) is caused by mutation in the FMR1 gene (<a href="/entry/309550">309550</a>). The vast majority of cases are caused by a trinucleotide (CGG)n repeat expansion (<a href="/entry/309550#0004">309550.0004</a>) of greater than 200 repeats.</p><p>See also fragile X tremor/ataxia syndrome (FXTAS; <a href="/entry/300623">300623</a>), which is caused by expanded FMR1 (CGG)n repeats that range in size from 55 to 200 repeats and are referred to as 'premutations.'</p>
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</span>
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<div>
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<br />
|
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Fragile X syndrome (FXS) is characterized by moderately to severely impaired intellectual development, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw. In most cases, the disorder is caused by the unstable expansion of a CGG repeat in the FMR1 gene and abnormal methylation, which results in suppression of FMR1 transcription and decreased protein levels in the brain (<a href="#36" class="mim-tip-reference" title="Devys, D., Lutz, Y., Rouyer, N., Bellocq, J.-P., Mandel, J.-L. <strong>The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation.</strong> Nature Genet. 4: 335-340, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8401578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8401578</a>] [<a href="https://doi.org/10.1038/ng0893-335" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8401578">Devys et al., 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8401578" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Reviews</em></strong></p><p>
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Fragile X syndrome accounts for about one-half of cases of X-linked impaired intellectual development and is the second most common cause of mental impairment after trisomy 21 (<a href="/entry/190685">190685</a>) (<a href="#149" class="mim-tip-reference" title="Rousseau, F., Rouillard, P., Morel, M.-L., Khandjian, E. W., Morgan, K. <strong>Prevalence of carriers of premutation-size alleles of the FMR1 gene--and implications for the population genetics of the fragile X syndrome.</strong> Am. J. Hum. Genet. 57: 1006-1018, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7485149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7485149</a>]" pmid="7485149">Rousseau et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7485149" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#116" class="mim-tip-reference" title="McCabe, E. R. B., de la Cruz, F., Clapp, K. <strong>Workshop on Fragile X: future research directions.</strong> Am. J. Med. Genet. 85: 317-322, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10398250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10398250</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990730)85:3<317::aid-ajmg25>3.0.co;2-q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10398250">McCabe et al. (1999)</a> summarized the proceedings of a workshop on the fragile X syndrome held in December 1998. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10398250" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#82" class="mim-tip-reference" title="Jacquemont, S., Hagerman, R. J., Hagerman, P. J., Leehey, M. A. <strong>Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1.</strong> Lancet Neurol. 6: 45-55, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17166801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17166801</a>] [<a href="https://doi.org/10.1016/S1474-4422(06)70676-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17166801">Jacquemont et al. (2007)</a> provided a review of fragile X syndrome, which they characterized as a neurodevelopmental disorder, and FXTAS, which they characterized as a neurodegenerative disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17166801" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#108" class="mim-tip-reference" title="Lubs, H. A., Jr. <strong>A marker X chromosome.</strong> Am. J. Hum. Genet. 21: 231-244, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5794013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5794013</a>]" pmid="5794013">Lubs (1969)</a> reported a family in which 4 males spanning 3 generations had mental retardation. Cytogenetic studies showed an unusual constriction of the long arm of the X chromosome in 10 to 33% of cells. In a follow-up report of the same family, <a href="#109" class="mim-tip-reference" title="Lubs, H. A., Watson, M., Breg, R., Lujan, E. <strong>Restudy of the original marker X family.</strong> Am. J. Med. Genet. 17: 133-144, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6711592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6711592</a>] [<a href="https://doi.org/10.1002/ajmg.1320170108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6711592">Lubs et al. (1984)</a> noted that affected individuals had large testes, low-set large ears, and asymmetric facial features with prominent angle of the jaw. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6711592+5794013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Cantu, J. M., Scaglia, H. E., Medina, M., Gonzalez-Diddi, M., Morato, T., Moreno, M. E., Perez-Palacios, G. <strong>Inherited congenital normofunctional testicular hyperplasia and mental deficiency.</strong> Hum. Genet. 33: 23-33, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/939556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">939556</a>] [<a href="https://doi.org/10.1007/BF00447283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="939556">Cantu et al. (1976)</a> reported 4 male sibs with congenital bilateral macroorchidism and severe mental retardation. Detailed endocrinologic evaluation, including sperm analysis, indicated normal testicular function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=939556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#115" class="mim-tip-reference" title="Mattei, J. F., Mattei, M. G., Aumeras, C., Auger, M., Giraud, F. <strong>X-linked mental retardation with the fragile X: a study of 15 families.</strong> Hum. Genet. 59: 281-289, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7333582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7333582</a>] [<a href="https://doi.org/10.1007/BF00295459" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7333582">Mattei et al. (1981)</a> reported 20 patients from 15 unrelated families with fragile X syndrome. In all 19 affected male and 1 affected female proband, the fragile X site was detected in 10-61% of lymphocyte or fibroblast cells; there seemed to be no correlation between the frequency of the fragile site and clinical severity. Three sisters of probands were mildly affected, but carrier females were unaffected. Affected male individuals showed characteristic facies, including long face, high forehead, midface hypoplasia, large mouth with long upper middle incisors, thick lips, high-arched palate, large jaw with prominent chin, and large, poorly formed ears. None of 14 prepubertal males showed macroorchidism. Mental retardation was very variable, but language development was usually very delayed. Motor development was often delayed. Most showed unusual behavior, with alternating anxiety and hilarity, disordered hyperactivity, and aggressiveness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7333582" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#110" class="mim-tip-reference" title="Lubs, H., Travers, H., Lujan, E., Carroll, A. <strong>A large kindred with X-linked mental retardation, marker X and macroorchidism.</strong> Am. J. Med. Genet. 17: 145-157, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6585140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6585140</a>] [<a href="https://doi.org/10.1002/ajmg.1320170109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6585140">Lubs et al. (1984)</a> reported a large African American kindred in which 10 males had mental retardation and macroorchidism associated with the abnormal X chromosome marker. Other variable clinical features included asymmetric facies and large hands. Six females were similarly affected. <a href="#118" class="mim-tip-reference" title="Meryash, D. L., Cronk, C. E., Sachs, B., Gerald, P. S. <strong>An anthropometric study of males with the fragile-X syndrome.</strong> Am. J. Med. Genet. 17: 159-174, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6711593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6711593</a>] [<a href="https://doi.org/10.1002/ajmg.1320170110" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6711593">Meryash et al. (1984)</a> studied 18 affected males, aged 18 to 69 years. Of 15 subjects, 13 had macroorchidism. Average height was less than published standards. Of the 18 subjects, 17 had absolute or relative macrocephaly and 12 were dolichocephalic. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6585140+6711593" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#80" class="mim-tip-reference" title="Jacobs, P. A. <strong>Personal Communication.</strong> Honolulu, Hawaii 1982."None>Jacobs (1982)</a> encountered a man and <a href="#28" class="mim-tip-reference" title="Daker, M. G., Chidiac, P., Fear, C. N., Berry, A. L. <strong>Fragile X in a normal male: a cautionary tale. (Letter)</strong> Lancet 317: 780 only, 1981. Note: Originally Volume 1.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6110980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6110980</a>] [<a href="https://doi.org/10.1016/s0140-6736(81)92652-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6110980">Daker et al. (1981)</a> reported 2 brothers with marXq28 and average intelligence. Similarly, <a href="#47" class="mim-tip-reference" title="Fryns, J. P., Van Den Berghe, H. <strong>Transmission of fragile(X)(q27) from normal male(s).</strong> Hum. Genet. 61: 262-263, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7173872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7173872</a>] [<a href="https://doi.org/10.1007/BF00296456" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7173872">Fryns and Van Den Berghe (1982)</a> presented a kindred in which the fragile X chromosome was transmitted by at least 3 normal males. These men died at ages 68, 72, and 76 years and had a normal phenotype with normal intelligence; one was an administrator and 2 were officers. <a href="#186" class="mim-tip-reference" title="Voelckel, M. A., Mattei, M. G., N'Guyen, C., Philip, N., Birg, F., Mattei, J. F. <strong>Dissociation between mental retardation and fragile site expression in a family with fragile X-linked mental retardation.</strong> Hum. Genet. 80: 375-378, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2904402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2904402</a>] [<a href="https://doi.org/10.1007/BF00273654" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2904402">Voelckel et al. (1988)</a> reported 3 brothers with the fragile X; only 2 were mentally retarded. <a href="#86" class="mim-tip-reference" title="Johnson, V. P., Carpenter, N. J., Skorey, P. A. <strong>Martin-Bell syndrome segregating in a large kindred with normal transmitting males: clinical, cytogenetic, and linkage study.</strong> Am. J. Med. Genet. 38: 275-282, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1673299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1673299</a>] [<a href="https://doi.org/10.1002/ajmg.1320380222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1673299">Johnson et al. (1991)</a> described a large kindred with 10 mentally retarded, fragile X-positive males, and 2 normal transmitting males. <a href="#133" class="mim-tip-reference" title="Pellissier, M.-C., Voelckel, M.-A., Piquet, C., Mattei, M.-G., Mattei, J.-F. <strong>Transmission of mental retardation with fragile X site by two normal transmitter brothers.</strong> Am. J. Med. Genet. 38: 367-369, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1673312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1673312</a>] [<a href="https://doi.org/10.1002/ajmg.1320380241" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1673312">Pellissier et al. (1991)</a> also described a kindred with 2 normal transmitter brothers. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1673299+6110980+2904402+7173872+1673312" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#107" class="mim-tip-reference" title="Loesch, D. Z., Hay, D. A. <strong>Clinical features and reproductive patterns in fragile X female heterozygotes.</strong> J. Med. Genet. 25: 407-414, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3398009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3398009</a>] [<a href="https://doi.org/10.1136/jmg.25.6.407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3398009">Loesch and Hay (1988)</a> presented the clinical findings on 113 fragile X female heterozygotes from 44 families. In 85% of a subsample of 92 adult females, the nonverbal IQ score was 85 or less. Verbal ability deficits were much less common. Typical facial characteristics, irregular teeth, and hypermobility of finger joints occurred in approximately 40% of adult females, but facial abnormalities were less common in children. Although the frequency of miscarriages was increased, a moderate increase in the number of children was found in female carriers with borderline intellectual impairment. The question of whether ovarian size is increased in females with the fragile X was addressed by <a href="#57" class="mim-tip-reference" title="Goodman, R. M., Strauss, S., Friedman, E., Chaki, R. <strong>Ovarian size in the fragile X mental retardation syndrome.</strong> Am. J. Med. Genet. 26: 17-18, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3812558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3812558</a>] [<a href="https://doi.org/10.1002/ajmg.1320260105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3812558">Goodman et al. (1987)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3812558+3398009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>A Prader-Willi-like subphenotype of the fragile X syndrome was described by <a href="#33" class="mim-tip-reference" title="de Vries, B. B. A., Fryns, J.-P., Butler, M. G., Canziani, F., Wesby-van Swaay, E., van Hemel, J. O., Oostra, B. A., Halley, D. J. J., Niermeijer, M. F. <strong>Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.</strong> J. Med. Genet. 30: 761-766, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8411072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8411072</a>] [<a href="https://doi.org/10.1136/jmg.30.9.761" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8411072">de Vries et al. (1993)</a>. Clinical features included extreme obesity with a full, round face, small, broad hands and feet, and regional skin hyperpigmentation. Unlike the Prader-Willi syndrome (<a href="/entry/176270">176270</a>), the patients lacked the neonatal hypotonia and feeding problems during infancy followed by hyperphagia during toddlerhood. In a group of 26 patients with suspected Prader-Willi syndrome but without detectable molecular abnormalities of chromosome 15, one fragile X patient was found. General overgrowth was described in 4 fragile X patients, all of whom came from families with other affected relatives who showed the classic Martin-Bell phenotype (<a href="#34" class="mim-tip-reference" title="de Vries, B. B. A., Robinson, H., Stolte-Dijkstra, I., Tjon Pian Gi, C. V., Dijkstra, P. F., van Doorn, J., Halley, D. J. J., Oostra, B. A., Turner, G., Niermeijer, M. F. <strong>General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation.</strong> J. Med. Genet. 32: 764-769, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8558551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8558551</a>] [<a href="https://doi.org/10.1136/jmg.32.10.764" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8558551">de Vries et al., 1995</a>). <a href="#152" class="mim-tip-reference" title="Schrander-Stumpel, C., Gerver, W.-J., Meyer, H., Engelen, J., Mulder, H., Fryns, J.-P. <strong>Prader-Willi-like phenotype in fragile X syndrome.</strong> Clin. Genet. 45: 175-180, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8062434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8062434</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1994.tb04018.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8062434">Schrander-Stumpel et al. (1994)</a> found the FMR1 mutation in a 3-year-old boy with unexplained extreme obesity and delayed motor and speech development. They compared the clinical features with those in 9 reported patients with the fragile X syndrome and extreme obesity. They suggested that behavioral characteristics such as hyperkinesis, autistic-like behavior, and apparent speech and language deficits may help point toward the diagnosis of the fragile X syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8558551+8062434+8411072" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#105" class="mim-tip-reference" title="Limprasert, P., Jaruratanasirikul, S., Vasiknanonte, P. <strong>Unilateral macroorchidism in fragile X syndrome. (Letter)</strong> Am. J. Med. Genet. 95: 516-517, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11146477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11146477</a>]" pmid="11146477">Limprasert et al. (2000)</a> described unilateral macroorchidism in a boy with fragile X syndrome and discussed the possible explanations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11146477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Backes, M., Genc, B., Schreck, J., Doerfler, W., Lehmkuhl, G., von Gontard, A. <strong>Cognitive and behavioral profile of fragile X boys: correlations to molecular data.</strong> Am. J. Med. Genet. 95: 150-156, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11078566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11078566</a>]" pmid="11078566">Backes et al. (2000)</a> evaluated a group of boys with fragile X syndrome, ascertained by molecular genetic methods, to determine a cognitive and behavioral profile. The cognitive phenotype revealed a general intelligence corresponding to mild to moderately severe mental retardation. Psychiatric comorbidity was high, and attention deficit hyperactivity disorder (ADHD), oppositional defiant disorder, enuresis, and encopresis predominated. No significant correlation between the specific features of the phenotype and genotype were found. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11078566" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Stigmata of connective tissue abnormalities in fragile X syndrome have been reported, including finger joint hypermobility, instability of other joints (<a href="#130" class="mim-tip-reference" title="Opitz, J. M., Westphal, J. M., Daniel, A. <strong>Discovery of a connective tissue dysplasia in the Martin-Bell syndrome.</strong> Am. J. Med. Genet. 17: 101-109, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6711589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6711589</a>] [<a href="https://doi.org/10.1002/ajmg.1320170105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6711589">Opitz et al., 1984</a>; <a href="#66" class="mim-tip-reference" title="Hagerman, R. J., Van Housen, K., Smith, A. C. M., McGavran, L. <strong>Consideration of connective tissue dysfunction in the fragile X syndrome.</strong> Am. J. Med. Genet. 17: 111-121, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6711590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6711590</a>] [<a href="https://doi.org/10.1002/ajmg.1320170106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6711590">Hagerman et al., 1984</a>), and mitral valve prolapse (<a href="#137" class="mim-tip-reference" title="Pyeritz, R. E., Stamberg, J., Thomas, G. H., Bell, B. B., Zahka, K. G., Bernhardt, B. A. <strong>The marker Xq28 syndrome (fragile X syndrome) in a retarded man with mitral valve prolapse.</strong> Johns Hopkins Med. J. 151: 231-237, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6958915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6958915</a>]" pmid="6958915">Pyeritz et al., 1982</a>). <a href="#65" class="mim-tip-reference" title="Hagerman, R. J., Synhorst, D. P. <strong>Mitral valve prolapse and aortic dilatation in the fragile X syndrome.</strong> Am. J. Med. Genet. 17: 123-131, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6711591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6711591</a>] [<a href="https://doi.org/10.1002/ajmg.1320170107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6711591">Hagerman and Synhorst (1984)</a> not only confirmed mitral valve prolapse but also demonstrated mild dilatation of the ascending aorta. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6711590+6958915+6711589+6711591" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Davids, J. R., Hagerman, R. J., Eilert, R. E. <strong>Orthopaedic aspects of fragile-X syndrome.</strong> J. Bone Joint Surg. Am. 72: 889-896, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2195034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2195034</a>]" pmid="2195034">Davids et al. (1990)</a> found that of 150 male patients with the fragile X syndrome, 75 had flat feet, 85 had excessive laxity of joints, and 10 had scoliosis. In 29 of the patients, flat feet had been evaluated or treated by an orthopedic surgeon before the diagnosis of fragile X syndrome had been made. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2195034" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#101" class="mim-tip-reference" title="Langenbeck, U., Schmidtke, J., Bartels, I., Hansmann, I., Knuppel, H. <strong>Mean corpuscular hemoglobin is increased in Martin-Bell syndrome.</strong> Hum. Genet. 66: 365-366, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6724586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6724586</a>] [<a href="https://doi.org/10.1007/BF00287643" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6724586">Langenbeck et al. (1984)</a> found that mean corpuscular hemoglobin was increased in this disorder and asked whether this was a reflection of a defect in folate metabolism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6724586" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#146" class="mim-tip-reference" title="Rodewald, L., Miller, D. C., Sciorra, L., Barabas, G., Lee, M.-L. <strong>Central nervous system neoplasm in a young man with Martin-Bell syndrome--fra(X)-XLMR.</strong> Am. J. Med. Genet. 26: 7-12, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3812581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3812581</a>] [<a href="https://doi.org/10.1002/ajmg.1320260103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3812581">Rodewald et al. (1987)</a> described ganglioglioma of the cauda equina in a 17-year-old male with familial Martin-Bell syndrome. Because of the association of neoplasms with autosomal chromosome abnormalities, <a href="#146" class="mim-tip-reference" title="Rodewald, L., Miller, D. C., Sciorra, L., Barabas, G., Lee, M.-L. <strong>Central nervous system neoplasm in a young man with Martin-Bell syndrome--fra(X)-XLMR.</strong> Am. J. Med. Genet. 26: 7-12, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3812581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3812581</a>] [<a href="https://doi.org/10.1002/ajmg.1320260103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3812581">Rodewald et al. (1987)</a> suggested that this may be more than coincidence. However, they found no published reports of tumors associated with Martin-Bell syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3812581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#49" class="mim-tip-reference" title="Fryns, J. P. <strong>Personal Communication.</strong> Leuven, Belgium 5/28/1993."None>Fryns (1993)</a> noted periorbital hyperpigmentation and scrotal hyperpigmentation about the time of puberty.</p><p><a href="#141" class="mim-tip-reference" title="Reiss, A. L., Lee, J., Freund, L. <strong>Neuroanatomy of fragile X syndrome: the temporal lobe.</strong> Neurology 44: 1317-1324, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8035938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8035938</a>] [<a href="https://doi.org/10.1212/wnl.44.7.1317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8035938">Reiss et al. (1994)</a> showed that the volume of the hippocampus was enlarged in fragile X patients compared to controls. Furthermore, there was an age-related increase in the volume of the hippocampus and an age-related decrease in the volume of the superior temporal gyrus. In another study, <a href="#139" class="mim-tip-reference" title="Reiss, A. L., Aylward, E., Freund, L. S., Joshi, P. K., Bryan, R. N. <strong>Neuroanatomy of fragile X syndrome: the posterior fossa.</strong> Ann. Neurol. 29: 26-32, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1996876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1996876</a>] [<a href="https://doi.org/10.1002/ana.410290107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1996876">Reiss et al. (1991)</a> showed that fragile X males had a significantly decreased size of the posterior cerebellar vermis and increased size of the fourth ventricle, when compared with age- and sex-matched groups of fragile X-negative, developmentally disabled subjects and individuals with normal IQ. <a href="#140" class="mim-tip-reference" title="Reiss, A. L., Freund, L., Tseng, J. E., Joshi, P. K. <strong>Neuroanatomy in fragile X females: the posterior fossa.</strong> Am. J. Hum. Genet. 49: 279-288, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1867191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1867191</a>]" pmid="1867191">Reiss et al. (1991)</a> showed that young fragile X females had decreased size of the posterior cerebellar vermis and increased size of the fourth ventricle, when compared with normal age-, sex-, and IQ-matched females. The findings were intermediate between those of the fragile X males and the non-fragile X control groups. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8035938+1996876+1867191" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#83" class="mim-tip-reference" title="Jakala, P., Hanninen, T., Ryynanen, M., Laakso, M., Partanen, K., Mannermaa, A., Soininen, H. <strong>Fragile-X: neuropsychological test performance, CGG triplet repeat lengths, and hippocampal volumes.</strong> J. Clin. Invest. 100: 331-338, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9218509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9218509</a>] [<a href="https://doi.org/10.1172/JCI119538" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9218509">Jakala et al. (1997)</a> found that males with the full fragile X (fM) mutation showed worse cognitive performance than did males with the premutation (pM); deficits in females with the fM were qualitatively similar but less severe than in males with the fM. In a visual memory test, both fM groups were impaired. Hippocampal volumes normalized for intracranial or brain area did not significantly differ between fM and pM groups. Minor abnormalities in temporal lobe structures were found by MRI in fM subjects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9218509" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#96" class="mim-tip-reference" title="Lachiewicz, A. M., Dawson, D. V., Spiridigliozzi, G. A. <strong>Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males.</strong> Am. J. Med. Genet. 92: 229-236, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10842286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10842286</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(20000605)92:4<229::aid-ajmg1>3.0.co;2-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10842286">Lachiewicz et al. (2000)</a> compared physical characteristics of young boys with fragile X with those of a control group. After adjustment for multiple comparisons, only 4 of 42 characteristics studied differed significantly in their distributions between the 2 groups. These included adverse response to touch on the skin, difficulty touching the tongue to the lips, soft skin over the dorsum of the hand, and hallucal crease. Ten other characteristics were identified that may also have predictive value for fragile X syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10842286" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#59" class="mim-tip-reference" title="Gould, E. L., Loesch, D. Z., Martin, M. J., Hagerman, R. J., Armstrong, S. M., Huggins, R. M. <strong>Melatonin profiles and sleep characteristics in boys with fragile X syndrome: a preliminary study.</strong> Am. J. Med. Genet. 95: 307-315, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11186882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11186882</a>]" pmid="11186882">Gould et al. (2000)</a> compared sleep patterns and endogenous melatonin profiles in 13 boys with fragile X to 8 age-matched normal controls. Results showed greater variability in total sleep time, difficulty in sleep maintenance, and significantly greater nocturnal melatonin production in the boys with fragile X. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11186882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#92" class="mim-tip-reference" title="Koekkoek, S. K. E., Yamaguchi, K., Milojkovic, B. A., Dortland, B. R., Ruigrok, T. J. H., Maex, R., De Graaf, W., Smit, A. E., VanderWerf, F., Bakker, C. E., Willemsen, R., Ikeda, T., Kakizawa, S., Onodera, K., Nelson, D. L., Mientjes, E., Joosten, M., De Schutter, E., Oostra, B. A., Ito, M., De Zeeuw, C. I. <strong>Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in fragile X syndrome.</strong> Neuron 47: 339-352, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16055059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16055059</a>] [<a href="https://doi.org/10.1016/j.neuron.2005.07.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16055059">Koekkoek et al. (2005)</a> observed a severe defect in eyeblink conditioning in 6 patients with fragile X syndrome, indicating a deficit in cerebellar motor learning. Fmr1-null mice also showed deficits in classic delay eyeblink conditioning, and Fmr1-null mouse cerebellar Purkinje cells showed elongated irregular dendritic spines and enhanced long-term depression induction at the parallel fiber synapses that innervate these spines. The findings indicated that a lack of FMRP leads to cerebellar dysfunction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16055059" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#121" class="mim-tip-reference" title="Moro, F., Pisano, T., Dalla Bernardina, B., Polli, R., Murgia, A., Zoccante, L., Darra, F., Battaglia, A., Pramparo, T., Zuffardi, O., Guerrini, R. <strong>Periventricular heterotopia in fragile X syndrome.</strong> Neurology 67: 713-715, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16924033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16924033</a>] [<a href="https://doi.org/10.1212/01.wnl.0000230223.51595.99" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16924033">Moro et al. (2006)</a> reported 2 unrelated boys with fragile X syndrome who had periventricular heterotopia on brain MRI. One had 3 heterotopic nodules, and the other had a single nodule. The findings suggested that abnormal neuronal migration contributes to the neurologic phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16924033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#58" class="mim-tip-reference" title="Gothelf, D., Furfaro, J. A., Hoeft, F., Eckert, M. A., Hall, S. S., O'Hara, R., Erba, H. W., Ringel, J., Hayashi, K. M., Patnaik, S., Golianu, B., Kraemer, H. C., Thompson, P. M., Piven, J., Reiss, A. L. <strong>Neuroanatomy of fragile X syndrome is associated with aberrant behavior and the fragile X mental retardation protein (FMRP).</strong> Ann. Neurol. 63: 40-51, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17932962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17932962</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17932962[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ana.21243" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17932962">Gothelf et al. (2008)</a> compared the neuroanatomy of 84 children and adolescents with fragile X syndrome to 72 control individuals using various MR imaging methods. Although there was no difference between the groups for total brain volume, separate analysis for different brain regions showed that patients had significantly smaller cortical lobes, significantly increased size of the caudate nucleus, and decreased size of the posterior cerebellar vermis, amygdala, and superior temporal gyrus compared to controls. The combination of a large caudate with small posterior cerebellar vermis, amygdala, and superior temporal gyrus could distinguish children with fragile X syndrome from control subjects with high sensitivity and specificity. Large caudate and small posterior cerebellar vermis were associated with lower FMRP levels and more pronounced cognitive deficits and aberrant behaviors, including autistic features. <a href="#58" class="mim-tip-reference" title="Gothelf, D., Furfaro, J. A., Hoeft, F., Eckert, M. A., Hall, S. S., O'Hara, R., Erba, H. W., Ringel, J., Hayashi, K. M., Patnaik, S., Golianu, B., Kraemer, H. C., Thompson, P. M., Piven, J., Reiss, A. L. <strong>Neuroanatomy of fragile X syndrome is associated with aberrant behavior and the fragile X mental retardation protein (FMRP).</strong> Ann. Neurol. 63: 40-51, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17932962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17932962</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17932962[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ana.21243" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17932962">Gothelf et al. (2008)</a> suggested that abnormal development of the prefrontal-striatal pathway and the orbitofrontal-amygdala circuit characterizes a neuroanatomic phenotype associated with fragile X syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17932962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a systematic chart review of over 500 patients with fragile X syndrome, <a href="#7" class="mim-tip-reference" title="Berry-Kravis, E., Levin, R., Shah, H., Mathur, S., Darnell, J. C., Ouyang, B. <strong>Cholesterol levels in fragile X syndrome.</strong> Am. J. Med. Genet. 167A: 379-384, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25424470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25424470</a>] [<a href="https://doi.org/10.1002/ajmg.a.36850" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25424470">Berry-Kravis et al. (2015)</a> found that male patients had significantly reduced levels of total cholesterol, low density lipoprotein (LDL), and high density lipoprotein (HDL) compared to matched controls. These findings were not related to body mass index (BMI). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25424470" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Male Premutation Carriers</em></strong></p><p>
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Some boys with expanded FMR1 (CGG)n repeats that range in size from 55 to 200 repeats, referred to as 'premutations,' may exhibit similar, but possibly milder, clinical features to those with full expansions. <a href="#3" class="mim-tip-reference" title="Aziz, M., Stathopulu, E., Callias, M., Taylor, C., Turk, J., Oostra, B., Willemsen, R., Patton, M. <strong>Clinical features of boys with fragile X premutations and intermediate alleles.</strong> Am. J. Med. Genet. 121B: 119-127, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12898586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12898586</a>] [<a href="https://doi.org/10.1002/ajmg.b.20030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12898586">Aziz et al. (2003)</a> reported the clinical features of 10 boys with FMR1 CGG expansions between 45 and 198 repeats. Most had increased testicular volume and enlarged outer canthal distance, and most exhibited variable defects in social impairment, speech and language deficits, autistic features, hyperactivity, and/or developmental abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12898586" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Chonchaiya, W., Au, J., Schneider, A., Hessl, D., Harris, S. W., Laird, M., Mu, Y., Tassone, F., Nguyen, D. V., Hagerman, R. J. <strong>Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder.</strong> Hum. Genet. 131: 581-589, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22001913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22001913</a>] [<a href="https://doi.org/10.1007/s00439-011-1106-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22001913">Chonchaiya et al. (2012)</a> examined 50 boys with FMR1 premutations for seizures and autistic features. Twenty-five boys were found to carry a premutation after direct referral for developmental issues ('probands'), and 25 additional boys were found to carry a FMR1 premutation after testing following identification of a family member with either the full mutation or a premutation ('non-probands'). The mean age of both groups was 9 years. All individuals with the premutation had increased FMR1 mRNA compared to sibs without a premutation. The probands with a premutation were significantly more likely to have features of autism spectrum disorder (68%) and seizures (28%) compared to controls (1.7% and 1% for autism spectrum disorder and seizures, respectively). Although none of the non-probands with premutations had seizures, 28% had features of autism spectrum disorder. <a href="#22" class="mim-tip-reference" title="Chonchaiya, W., Au, J., Schneider, A., Hessl, D., Harris, S. W., Laird, M., Mu, Y., Tassone, F., Nguyen, D. V., Hagerman, R. J. <strong>Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder.</strong> Hum. Genet. 131: 581-589, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22001913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22001913</a>] [<a href="https://doi.org/10.1007/s00439-011-1106-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22001913">Chonchaiya et al. (2012)</a> concluded that boys with the FMR1 premutation should be assessed for autistic features and seizures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22001913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Female Premutation Carriers</em></strong></p><p>
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For a discussion of premature ovarian failure (POF) associated with premutation in the FMR1 gene, see POF1 (<a href="/entry/311360">311360</a>).</p><p><a href="#148" class="mim-tip-reference" title="Rousseau, F., Heitz, D., Oberle, I., Mandel, J.-L. <strong>Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation.</strong> J. Med. Genet. 28: 830-836, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1757958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1757958</a>] [<a href="https://doi.org/10.1136/jmg.28.12.830" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1757958">Rousseau et al. (1991)</a> observed an age-dependent phenomenon: the full fragile X mutation was found preferentially on the inactive X in leukocytes in adult females but not in younger ones. This phenomenon was not observed in female carriers of a premutation, who have little phenotypic expression. Preliminary data suggested that young females who show preferential presence of a full mutation on the active X in leukocytes may be at increased risk for mental retardation. There is a known decrease with age of the expression of the fragile site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1757958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#160" class="mim-tip-reference" title="Steyaert, J., Legius, E., Borghgraef, M., Fryns, J.-P. <strong>A distinct neurocognitive phenotype in female fragile-X premutation carriers assessed with visual attention tasks.</strong> Am. J. Med. Genet. 116A: 44-51, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12476450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12476450</a>] [<a href="https://doi.org/10.1002/ajmg.a.10821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12476450">Steyaert et al. (2003)</a> used the Sonneville Visual Attentions Task (SVAT) method to assess reaction time on different tasks in 3 groups of female subjects: premutation carriers, full mutation carriers, and control subjects. Their findings supported earlier findings that the fragile X premutation may affect neurocognitive function, in particular aspects of attention. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12476450" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#73" class="mim-tip-reference" title="Hundscheid, R. D. L., Smits, A. P. T., Thomas, C. M. G., Kiemeney, L. A. L. M., Braat, D. D. M. <strong>Female carriers of fragile X premutations have no increased risk for additional diseases other than premature ovarian failure.</strong> Am. J. Med. Genet. 117A: 6-9, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12548733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12548733</a>] [<a href="https://doi.org/10.1002/ajmg.a.10862" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12548733">Hundscheid et al. (2003)</a> investigated whether premutation carriers have an increased risk for diseases other than POF. Among 264 women from fragile X families, they found no statistically significant differences in the occurrence of diseases known to be associated with menopause, such as cardiovascular diseases and osteoporosis; however, lower bone mineral density was observed only in premutation carriers. Once a premutation carrier experiences premature ovarian failure, she is at risk for early estrogen deprivation which, if not treated, may lead to premature decrease in bone density. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12548733" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#74" class="mim-tip-reference" title="Hunter, J. E., Allen, E. G., Abramowitz, A., Rusin, M., Leslie, M., Novak, G., Hamilton, D., Shubeck, L., Charen, K., Sherman, S. L. <strong>No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50.</strong> Am. J. Hum. Genet. 83: 692-702, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19026394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19026394</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.10.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19026394">Hunter et al. (2008)</a> found no significant differences in neuropsychologic testing scores between 63 males under the age of 50 who were carriers of intermediate (20 to 55 repeats) or premutation (55 to 199 repeats) FMR1 alleles compared to 75 male controls. A comparison of 389 female intermediate or premutation allele carriers showed an association with increasing repeat length and self-reported attention difficulties compared to 117 female controls, but there were no differences in the other neuropsychologic testing scores. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19026394" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#24" class="mim-tip-reference" title="Colak, D., Zaninovic, N., Cohen, M. S., Rosenwaks, Z., Yang, W.-Y., Gerhardt, J., Disney, M. D., Jaffrey, S. R. <strong>Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome.</strong> Science 343: 1002-1005, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24578575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24578575</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24578575[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1245831" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24578575">Colak et al. (2014)</a> demonstrated that FMR1 (<a href="/entry/309550">309550</a>) silencing is mediated by the FMR1 mRNA. The FMR1 mRNA contains the transcribed CGG-repeat tract as part of the 5-prime untranslated region, which hybridizes to the complementary CGG-repeat portion of the FMR1 gene to form an RNA/DNA duplex. Disrupting the interaction of the mRNA with the CGG-repeat portion of the FMR1 gene prevents promoter silencing. <a href="#24" class="mim-tip-reference" title="Colak, D., Zaninovic, N., Cohen, M. S., Rosenwaks, Z., Yang, W.-Y., Gerhardt, J., Disney, M. D., Jaffrey, S. R. <strong>Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome.</strong> Science 343: 1002-1005, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24578575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24578575</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24578575[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1245831" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24578575">Colak et al. (2014)</a> concluded that their data linked trinucleotide repeat expansion to a form of RNA-directed gene silencing mediated by direct interactions of the trinucleotide repeat RNA and DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24578575" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#108" class="mim-tip-reference" title="Lubs, H. A., Jr. <strong>A marker X chromosome.</strong> Am. J. Hum. Genet. 21: 231-244, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5794013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5794013</a>]" pmid="5794013">Lubs (1969)</a> first described an abnormality of the distal long arm of the X chromosome, Xq, in 4 mentally retarded males from a single family. A secondary constriction of the chromosome gave the appearance of large satellites. <a href="#108" class="mim-tip-reference" title="Lubs, H. A., Jr. <strong>A marker X chromosome.</strong> Am. J. Hum. Genet. 21: 231-244, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5794013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5794013</a>]" pmid="5794013">Lubs (1969)</a> suggested that either the anomalous region itself or a closely linked recessive gene might account for X-linked mental retardation. This observation went unconfirmed for years until cytogeneticists reverted to a folate-deficient medium for tissue culture such as <a href="#108" class="mim-tip-reference" title="Lubs, H. A., Jr. <strong>A marker X chromosome.</strong> Am. J. Hum. Genet. 21: 231-244, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5794013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5794013</a>]" pmid="5794013">Lubs (1969)</a> employed. Appearance of this secondary constriction, referred to as a 'fragile site,' was localized to Xq27-q28 and was shown to be dependent on folate deficiency in the culture medium, which leads to deficiency of thymidine monophosphate (<a href="#54" class="mim-tip-reference" title="Giraud, F., Ayme, S., Mattei, J. F., Mattei, M. G. <strong>Constitutional chromosomal breakage.</strong> Hum. Genet. 34: 125-136, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1033912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1033912</a>] [<a href="https://doi.org/10.1007/BF00278880" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1033912">Giraud et al., 1976</a>; <a href="#67" class="mim-tip-reference" title="Harvey, J., Judge, C., Wiener, S. <strong>Familial X-linked mental retardation with an X chromosome abnormality.</strong> J. Med. Genet. 14: 46-50, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/839500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">839500</a>] [<a href="https://doi.org/10.1136/jmg.14.1.46" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="839500">Harvey et al., 1977</a>; <a href="#165" class="mim-tip-reference" title="Sutherland, G. R. <strong>Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium.</strong> Science 197: 265-266, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/877551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">877551</a>] [<a href="https://doi.org/10.1126/science.877551" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="877551">Sutherland, 1977</a>). Sutherland was in Melbourne when he made his initial observations on the fragile X. When he went to Adelaide, he upgraded his laboratory, changing from 199 to F10 culture medium to give better chromosomes for banding. The failure to find the fragile X with the new medium led to his discovery of the critical role of folate (<a href="#52" class="mim-tip-reference" title="Gerald, P. S. <strong>Personal Communication.</strong> Boston, Mass. 8/12/1983."None>Gerald, 1983</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=839500+1033912+5794013+877551" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>At least 12 other heritable secondary constrictions ('fragile sites') on other chromosomes were proved by the early 1980s (<a href="#167" class="mim-tip-reference" title="Sutherland, G. R. <strong>Heritable sites on human chromosomes. VII. Children homozygous for the BrdU-requiring fra10q25 are phenotypically normal.</strong> Am. J. Hum. Genet. 33: 946-949, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7325157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7325157</a>]" pmid="7325157">Sutherland, 1981</a>; <a href="#69" class="mim-tip-reference" title="Hecht, F., Jacky, P. B., Sutherland, G. R. <strong>The fragile X chromosome: current methods.</strong> Am. J. Med. Genet. 11: 489-495, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6211983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6211983</a>] [<a href="https://doi.org/10.1002/ajmg.1320110417" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6211983">Hecht et al., 1982</a>), but none had an association with a particular phenotype. In all pedigrees of marXq28 studied, no crossing-over between the marker and mental retardation had occurred. This suggested that the marker, rather than being closely linked to a gene causing mental retardation, is a direct cytologic indicator of the genetic mutation causing this phenotype (<a href="#87" class="mim-tip-reference" title="Kaiser-McCaw, B., Hecht, F., Cadien, J. D., Moore, B. C. <strong>Fragile X-linked mental retardation.</strong> Am. J. Med. Genet. 7: 503-505, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7211959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7211959</a>] [<a href="https://doi.org/10.1002/ajmg.1320070411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7211959">Kaiser-McCaw et al., 1980</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7325157+7211959+6211983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#182" class="mim-tip-reference" title="Turner, G., Till, R., Daniel, A. <strong>Marker X chromosomes, mental retardation and macro-orchidism. (Letter)</strong> New Eng. J. Med. 299: 1472, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/714140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">714140</a>] [<a href="https://doi.org/10.1056/NEJM197812282992625" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="714140">Turner et al. (1978)</a> suggested labeling the marker 'secondary constriction Xq27'; however, convention requires that 'a break suspected at an interface between two bands is identified arbitrarily by the higher of the two band numbers' (<a href="#75" class="mim-tip-reference" title="ISCN. <strong>An International System for Human Cytogenetic Nomenclature (1978).</strong> Cytogenet. Cell Genet. 21: 309-404, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/747930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">747930</a>] [<a href="https://doi.org/10.1159/000130909" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="747930">ISCN, 1978</a>; section 2.4.4.2). <a href="#12" class="mim-tip-reference" title="Brookwell, R., Turner, G. <strong>High resolution banding and the locus of the Xq fragile site.</strong> Hum. Genet. 63: 77, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6682088/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6682088</a>] [<a href="https://doi.org/10.1007/BF00285404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6682088">Brookwell and Turner (1983)</a> again concluded that the fragile site is in band Xq27, close to the q27-q28 interface. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=747930+714140+6682088" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#108" class="mim-tip-reference" title="Lubs, H. A., Jr. <strong>A marker X chromosome.</strong> Am. J. Hum. Genet. 21: 231-244, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5794013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5794013</a>]" pmid="5794013">Lubs (1969)</a> and <a href="#114" class="mim-tip-reference" title="Martin, R. H., Lin, C. C., Mathies, B. J., Lowry, R. B. <strong>X-linked mental retardation with macro-orchidism and marker-X chromosomes.</strong> Am. J. Med. Genet. 7: 433-441, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6938132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6938132</a>] [<a href="https://doi.org/10.1002/ajmg.1320070405" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6938132">Martin et al. (1980)</a> found that the fragile X marker was not preferentially inactivated in female heterozygotes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6938132+5794013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a survey of retarded females who had no obvious physical abnormalities, <a href="#179" class="mim-tip-reference" title="Turner, G., Brookwell, R., Daniel, A., Selikowitz, M., Zilibowitz, M. <strong>Heterozygous expression of X-linked mental retardation and X-chromosome marker fra(X)(q27).</strong> New Eng. J. Med. 303: 662-664, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6931286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6931286</a>] [<a href="https://doi.org/10.1056/NEJM198009183031202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6931286">Turner et al. (1980)</a> found that 7% expressed marXq28 in lymphocytes. Among obligate heterozygotes, the likelihood of detecting marXq28 correlated with severity of retardation (<a href="#72" class="mim-tip-reference" title="Howard-Peebles, P. N., Stoddard, G. R. <strong>Familial X-linked mental retardation with a marker X chromosome and its relationship to macroorchidism.</strong> Clin. Genet. 17: 125-128, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6928810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6928810</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1980.tb00120.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6928810">Howard-Peebles and Stoddard, 1980</a>; <a href="#78" class="mim-tip-reference" title="Jacobs, P. A., Glover, T. W., Mayer, M., Fox, P., Gerrard, J. W., Dunn, H. G., Herbst, D. S. <strong>X-linked mental retardation: a study of 7 families.</strong> Am. J. Med. Genet. 7: 471-479, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7211957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7211957</a>] [<a href="https://doi.org/10.1002/ajmg.1320070408" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7211957">Jacobs et al., 1980</a>). In 2 heterozygous sisters who were slow learners, <a href="#184" class="mim-tip-reference" title="Uchida, I. A., Joyce, E. M. <strong>Activity of the fragile X in heterozygous carriers.</strong> Am. J. Hum. Genet. 34: 286-293, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6176123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6176123</a>]" pmid="6176123">Uchida and Joyce (1982)</a> found that the fragile X was active in approximately 70% of cells, whereas 2 heterozygous relatives of normal intelligence had the fragile X active in approximately 30 to 50% of cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7211957+6931286+6176123+6928810" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>An earlier suggestion that the proportion of cells exhibiting marXq28 decreases with increasing heterozygote age (<a href="#166" class="mim-tip-reference" title="Sutherland, G. R. <strong>Heritable fragile sites on human chromosomes. II. Distribution, phenotypic effects, and cytogenetics.</strong> Am. J. Hum. Genet. 31: 136-148, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/453198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">453198</a>]" pmid="453198">Sutherland, 1979</a>; <a href="#78" class="mim-tip-reference" title="Jacobs, P. A., Glover, T. W., Mayer, M., Fox, P., Gerrard, J. W., Dunn, H. G., Herbst, D. S. <strong>X-linked mental retardation: a study of 7 families.</strong> Am. J. Med. Genet. 7: 471-479, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7211957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7211957</a>] [<a href="https://doi.org/10.1002/ajmg.1320070408" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7211957">Jacobs et al., 1980</a>; <a href="#179" class="mim-tip-reference" title="Turner, G., Brookwell, R., Daniel, A., Selikowitz, M., Zilibowitz, M. <strong>Heterozygous expression of X-linked mental retardation and X-chromosome marker fra(X)(q27).</strong> New Eng. J. Med. 303: 662-664, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6931286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6931286</a>] [<a href="https://doi.org/10.1056/NEJM198009183031202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6931286">Turner et al., 1980</a>) may have been an artifact due to ascertaining fewer retarded women in older age groups (<a href="#79" class="mim-tip-reference" title="Jacobs, P. A., Hunt, P. A., Mayer, M., Wang, J.-C., Boss, G. R., Erbe, R. W. <strong>Expression of the marker(X)(q28) in lymphoblastoid cell lines.</strong> Am. J. Hum. Genet. 34: 552-557, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6213152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6213152</a>]" pmid="6213152">Jacobs et al., 1982</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6931286+6213152+7211957+453198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>See review by <a href="#127" class="mim-tip-reference" title="Nussbaum, R. L., Ledbetter, D. H. <strong>Fragile X syndrome: a unique mutation in man.</strong> Annu. Rev. Genet. 20: 109-145, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3545058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3545058</a>] [<a href="https://doi.org/10.1146/annurev.ge.20.120186.000545" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3545058">Nussbaum and Ledbetter (1986)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3545058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 of 27 large fragile X pedigrees, <a href="#48" class="mim-tip-reference" title="Fryns, J. P. <strong>The fragile X syndrome: a study of 83 families.</strong> Clin. Genet. 26: 497-528, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6499265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6499265</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1984.tb01099.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6499265">Fryns (1984)</a> found strong evidence of transmission by normal males. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6499265" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By analysis of multiple families with fragile X syndrome, <a href="#153" class="mim-tip-reference" title="Sherman, S. L., Jacobs, P. A., Morton, N. E., Froster-Iskenius, U., Howard-Peebles, P. N., Nielsen, K. B., Partington, M. W., Sutherland, G. R., Turner, G., Watson, M. <strong>Further segregation analysis of the fragile X syndrome with special reference to transmitting males.</strong> Hum. Genet. 69: 289-299, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3838733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3838733</a>] [<a href="https://doi.org/10.1007/BF00291644" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3838733">Sherman et al. (1985)</a> identified multiple special inheritance characteristics that differed from other X-linked traits. All mothers of affected sons were carriers; no new mutations were predicted. The risk of fragile X syndrome in offspring depended upon the sex and phenotype of the carrier parent. Daughters of nonpenetrant transmitting males were rarely affected, whereas daughters of normal carrier females had a higher chance of having affected daughters. Cognitively impaired females had a higher risk of having affected offspring. Mothers and daughters of transmitting males who were phenotypically similar had sons and daughters who expressed the gene differently. The gene seemed to be more penetrant in the offspring of daughters of transmitting males than in offspring of mothers of transmitting males. <a href="#153" class="mim-tip-reference" title="Sherman, S. L., Jacobs, P. A., Morton, N. E., Froster-Iskenius, U., Howard-Peebles, P. N., Nielsen, K. B., Partington, M. W., Sutherland, G. R., Turner, G., Watson, M. <strong>Further segregation analysis of the fragile X syndrome with special reference to transmitting males.</strong> Hum. Genet. 69: 289-299, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3838733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3838733</a>] [<a href="https://doi.org/10.1007/BF00291644" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3838733">Sherman et al. (1985)</a> suggested that a premutation exists which generates a definitive mutation only when transmitted by a female and that there is a submicroscopic rearrangement at Xq27.3 which per se causes no trouble but generates a significant genetic imbalance when involved in a recombinational event with the other X chromosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3838733" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#134" class="mim-tip-reference" title="Pembrey, M. E., Winter, R. M., Davies, K. E. <strong>A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation.</strong> Am. J. Med. Genet. 21: 709-717, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4040705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4040705</a>] [<a href="https://doi.org/10.1002/ajmg.1320210413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4040705">Pembrey et al. (1985)</a> advanced a premutation hypothesis to explain unusual characteristics of the genetics of this disorder: transmission occurs through normal males; the heterozygous daughters of such males are never mentally retarded and have few or no fragile sites, and by contrast in the next generation, a third of heterozygous females are mentally subnormal with an average of 29% fragile sites (<a href="#153" class="mim-tip-reference" title="Sherman, S. L., Jacobs, P. A., Morton, N. E., Froster-Iskenius, U., Howard-Peebles, P. N., Nielsen, K. B., Partington, M. W., Sutherland, G. R., Turner, G., Watson, M. <strong>Further segregation analysis of the fragile X syndrome with special reference to transmitting males.</strong> Hum. Genet. 69: 289-299, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3838733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3838733</a>] [<a href="https://doi.org/10.1007/BF00291644" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3838733">Sherman et al., 1985</a>). This came to be called the Sherman paradox (<a href="#50" class="mim-tip-reference" title="Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Pieretti, M., Sutcliffe, J. S., Richards, S., Verkerk, A. J. M. H., Holden, J. J. A., Fenwick, R. G., Jr., Warren, S. T., Oostra, B. A., Nelson, D. L., Caskey, C. T. <strong>Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.</strong> Cell 67: 1047-1058, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1760838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1760838</a>] [<a href="https://doi.org/10.1016/0092-8674(91)90283-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1760838">Fu et al., 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3838733+4040705+1760838" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#197" class="mim-tip-reference" title="Winter, R. M., Pembrey, M. E. <strong>Analysis of linkage relationships between genetic markers around the fragile X locus with special reference to the daughters of normal transmitting males.</strong> Hum. Genet. 74: 93-97, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3463533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3463533</a>] [<a href="https://doi.org/10.1007/BF00278793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3463533">Winter and Pembrey (1986)</a> analyzed linkage relationships of flanking genetic markers in daughters of normal transmitting males. There was a significant reduction in recombination in meioses giving rise to affected grandsons of normal transmitting males, as compared to families with no apparent normal transmitting males. One interpretation offered was interference related to a recombinational event leading to the full fragile X mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3463533" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#190" class="mim-tip-reference" title="Weaver, D. D., Sherman, S. L. <strong>A counseling guide to the Martin-Bell syndrome. (Letter)</strong> Am. J. Med. Genet. 26: 39-44, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3812576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3812576</a>] [<a href="https://doi.org/10.1002/ajmg.1320260109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3812576">Weaver and Sherman (1987)</a> gave guidelines for counseling families with the Martin-Bell syndrome. Because of the peculiarities of the pedigrees, it is necessary to give different estimates for the risk among the sons and daughters of normal carrier mothers, mentally impaired carrier mothers, and normal transmitting males. Among the sons, the probability for mental impairment is 0.38, 0.5, and 0, respectively, and the chance of a son being a mentally normal carrier is 0.12, 0, and 0, respectively. Among the daughters, the risk of being a mentally impaired carrier is 0.16, 0.28, and 0, respectively, and the chance of being a mentally normal carrier is about 0.34, 0.22, and 1.0, respectively. Given a sporadic case in a male with no fragile X demonstrable in the mother, the estimates for occurrence in a brother of the proband vary from 9 to 27%, depending on the theoretical model used; the estimated risk in first cousins varies from 0.01 to 0.05. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3812576" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Having excluded a mutation rate in male germ cells of the magnitude required by an exclusive mutation hypothesis to explain the high incidence of the fragile X syndrome, <a href="#187" class="mim-tip-reference" title="Vogel, F., Crusio, W. E., Kovac, C., Fryns, J.-P., Freund, M. <strong>Selective advantage of fra (X) heterozygotes.</strong> Hum. Genet. 86: 25-32, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2147668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2147668</a>] [<a href="https://doi.org/10.1007/BF00205167" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2147668">Vogel et al. (1990)</a> proceeded to demonstrate an increased fitness of heterozygous females by a comparison with the reproductive performance of 'adequate' controls (mothers and grandparents of Down syndrome patients). Estimates ranged between 1.11 and 1.36. A higher incidence of dizygotic twinning suggested a biologic component for this increased fertility. On the other hand, the fragile X families had a significantly lower social status than the controls, suggesting a sociopsychologic component of their higher fertility. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2147668" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#128" class="mim-tip-reference" title="Oberle, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., Boue, J., Bertheas, M. F., Mandel, J. L. <strong>Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome.</strong> Science 252: 1097-1102, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2031184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2031184</a>] [<a href="https://doi.org/10.1126/science.252.5009.1097" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2031184">Oberle et al. (1991)</a> found that the transition from a premutation to a full mutation occurred only after passage through a female. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2031184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#199" class="mim-tip-reference" title="Yu, S., Mulley, J., Loesch, D., Turner, G., Donnelly, A., Gedeon, A., Hillen, D., Kremer, E., Lynch, M., Pritchard, M., Sutherland, G. R., Richards, R. I. <strong>Fragile-X syndrome: unique genetics of the heritable unstable element.</strong> Am. J. Hum. Genet. 50: 968-980, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1570846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1570846</a>]" pmid="1570846">Yu et al. (1992)</a> found that all individuals with the fragile X genotype had a parent with an amplified p(CCG)n repeat, indicating that few, if any, cases of fragile X syndrome are not familial. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1570846" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#173" class="mim-tip-reference" title="Tabolacci, E., Pomponi, M. G., Pietrobono, R., Chiurazzi, P., Neri, G. <strong>A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy.</strong> Europ. J. Hum. Genet. 16: 209-214, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17971832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17971832</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201949" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17971832">Tabolacci et al. (2008)</a> reported a 10-year-old boy with a normal CGG tract in the FMR1 gene and no fragile X syndrome phenotype; however, his 2 brothers were affected with fragile X syndrome due to an expanded allele. The mother carried a premutation allele of about 190 CGG. The 10-year-old unaffected boy was found to have an allele of 43 repeats with an unusual configuration detected using 2 different restriction enzymes, and the boy was not mosaic. Haplotype analysis proved that the rearranged allele originated from the maternal expanded allele, indicating contraction of the expanded CGG tract and reversion to a normal size FMR1 allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17971832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Imprinting</em></strong></p><p>
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<a href="#99" class="mim-tip-reference" title="Laird, C. D. <strong>Proposed mechanism of inheritance and expression of the human fragile X syndrome of mental retardation.</strong> Genetics 117: 587-599, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3692144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3692144</a>] [<a href="https://doi.org/10.1093/genetics/117.3.587" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3692144">Laird (1987)</a> proposed that abnormal chromosome imprinting is involved in inheritance of the fragile X syndrome. Two independent events are required for expression of the syndrome: the fragile X mutation and X chromosome inactivation in pre-oogonial cells. According to this model, the fragile X mutation leads to an imprint, or stable inactivation of a gene or genes at the fragile X site because the mutation prevents reactivation of a mutant fragile X chromosome that had been inactivated in a female for dosage compensation. This block to reactivation leads to mental retardation in progeny by reducing the level of products from the unreactivated region in the male's cells, and for a heterozygous female, in somatic cells in which the normal X chromosome has been inactivated. The basis of this localized block to complete reactivation of a fragile X chromosome was proposed to be late replication of DNA at the fragile site (<a href="#97" class="mim-tip-reference" title="Laird, C. D., Jaffe, E., Karpen, G., Lamb, M., Nelson, R. <strong>Fragile sites in human chromosomes as regions of late-replicating DNA.</strong> Trends Genet. 3: 274-281, 1987."None>Laird et al., 1987</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3692144" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>From an analysis of data on fragile X, <a href="#98" class="mim-tip-reference" title="Laird, C. D., Lamb, M. M., Thorne, J. L. <strong>Two progenitor cells for human oogonia inferred from pedigree data and the X-inactivation imprinting model of the fragile-X syndrome.</strong> Am. J. Hum. Genet. 46: 696-719, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1969225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1969225</a>]" pmid="1969225">Laird et al. (1990)</a> concluded that 2 progenitor cells for human oogonia may be present at the time of the initial event that leads to chromosome imprinting. The estimate was based on the fact that one-half of the female's primary oocytes would, on the average, be expected to show imprinting if X-chromosome inactivation is the initial step. The population genetic predictions of the 'X-inactivation imprinting' model indicate that the fraction of carrier males who are nonpenetrant (nonimprinted) would be about 0.5 at equilibrium (<a href="#171" class="mim-tip-reference" title="Sved, J. A., Laird, C. D. <strong>Population genetic consequences of the fragile X syndrome, based on the X-inactivation imprinting model.</strong> Am. J. Hum. Genet. 46: 443-451, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2309697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2309697</a>]" pmid="2309697">Sved and Laird, 1990</a>). <a href="#170" class="mim-tip-reference" title="Sved, J. A., Laird, C. D. <strong>The X-inactivation imprinting model can explain the incidence of the fragile-X syndrome of mental retardation in mother-offspring pairs.</strong> Brain Dysfunct. 1: 245-254, 1988."None>Sved and Laird (1988)</a> suggested that this predicted fraction is higher than the reported fraction of 0.2 (<a href="#153" class="mim-tip-reference" title="Sherman, S. L., Jacobs, P. A., Morton, N. E., Froster-Iskenius, U., Howard-Peebles, P. N., Nielsen, K. B., Partington, M. W., Sutherland, G. R., Turner, G., Watson, M. <strong>Further segregation analysis of the fragile X syndrome with special reference to transmitting males.</strong> Hum. Genet. 69: 289-299, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3838733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3838733</a>] [<a href="https://doi.org/10.1007/BF00291644" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3838733">Sherman et al., 1985</a>) because of an unusual ascertainment bias. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3838733+2309697+1969225" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#100" class="mim-tip-reference" title="Laird, C. D. <strong>Possible erasure of the imprint on a fragile X chromosome when transmitted by a male.</strong> Am. J. Med. Genet. 38: 391-395, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2018078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2018078</a>] [<a href="https://doi.org/10.1002/ajmg.1320380247" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2018078">Laird (1991)</a> explained the cytogenetic disappearance of the fragile X site in the few daughters of affected males that have been reported as a consequence of erasure of the imprint when it is passed through males. Erasure of chromosome imprinting often occurs when the imprinted chromosome is passed through the parental gender opposite from the gender that established the imprint. Reimprinting apparently can occur, however, in primary oocytes of these daughters. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2018078" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#44" class="mim-tip-reference" title="Follette, P. J., Laird, C. D. <strong>Estimating the stability of the proposed imprinted state of the fragile-X mutation when transmitted by females.</strong> Hum. Genet. 88: 335-343, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1346387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1346387</a>] [<a href="https://doi.org/10.1007/BF00197270" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1346387">Follette and Laird (1992)</a> examined the stability of the imprinted state, defining stability as 100% penetrance of the syndrome in sons who receive an imprinted chromosome from the mother. In a preliminary estimate, they concluded that the fragile X imprint was stable in 46 of 48 female meioses, giving a tentative estimate of about 96% for the stability of the imprint. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1346387" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#89" class="mim-tip-reference" title="Kirkilionis, A. J., Chudley, A. E., Greenberg, C. R., Yan, D. L., McGillivray, B., Hamerton, J. L. <strong>Transmission of the fra(X) haplotype from three nonpenetrant brothers to their affected grandsons.</strong> Am. J. Med. Genet. 43: 588-591, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1605253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1605253</a>] [<a href="https://doi.org/10.1002/ajmg.1320430316" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1605253">Kirkilionis et al. (1992)</a> presented the pedigree of a large family that illustrated dramatically the Sherman paradox and was compatible with the predictions of the Laird X-inactivation imprinting model. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1605253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#201" class="mim-tip-reference" title="Zeesman, S., Zwaigenbaum, L., Whelan, D. T., Hagerman, R. J., Tassone, F., Taylor, S. A. M. <strong>Paternal transmission of fragile X syndrome.</strong> Am. J. Med. Genet. 129A: 184-189, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15316964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15316964</a>] [<a href="https://doi.org/10.1002/ajmg.a.30191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15316964">Zeesman et al. (2004)</a> reported a family in which a fragile X mosaic male, with both premutation and full mutation alleles in his peripheral blood leukocytes, had a daughter with both premutation and partially methylated full mutation alleles and a significant developmental disability. The sperm cells in the father contained only alleles in the premutation range; because the daughter had both premutation and full mutation alleles, the expansion to full mutation must have occurred postzygotically. The authors believed this to be the first report of a paternally derived full mutation expressed in a female. <a href="#158" class="mim-tip-reference" title="Steinbach, D., Steinbach, P. <strong>No evidence of paternal transmission of fragile X syndrome. (Letter)</strong> Am. J. Med. Genet. 136A: 107-108, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15887276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15887276</a>] [<a href="https://doi.org/10.1002/ajmg.a.30749" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15887276">Steinbach and Steinbach (2005)</a> disputed the conclusion of <a href="#201" class="mim-tip-reference" title="Zeesman, S., Zwaigenbaum, L., Whelan, D. T., Hagerman, R. J., Tassone, F., Taylor, S. A. M. <strong>Paternal transmission of fragile X syndrome.</strong> Am. J. Med. Genet. 129A: 184-189, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15316964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15316964</a>] [<a href="https://doi.org/10.1002/ajmg.a.30191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15316964">Zeesman et al. (2004)</a> of paternal transmission of fragile X syndrome, and <a href="#174" class="mim-tip-reference" title="Tassone, F., Zeesman, S., Zwaigenbaum, L., Whelan, D. T., Hagerman, R. J., Taylor, S. A. M. <strong>Response to Steinbach and Steinbach.</strong> Am. J. Med. Genet. 136A: 109-110, 2005."None>Tassone et al. (2005)</a> provided a response. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15887276+15316964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 6 of 18 informative Sardinian pedigrees with fragile X syndrome, <a href="#43" class="mim-tip-reference" title="Filippi, G., Rinaldi, A., Archidiacono, N., Rocchi, M., Balazs, I., Siniscalco, M. <strong>Linkage between G6PD and fragile-X syndrome.</strong> Am. J. Med. Genet. 15: 113-119, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6602550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6602550</a>] [<a href="https://doi.org/10.1002/ajmg.1320150115" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6602550">Filippi et al. (1983)</a> found close linkage with G6PD (<a href="/entry/305900">305900</a>) and deutan colorblindness (CBD; <a href="/entry/303800">303800</a>), both linked to Xq28. The maximum likelihood estimate of recombination was 6% with 90% fiducial limits between 2.5 and 19.5% and odds favoring linkage of 428:1. There was no linkage between G6PD and the Renpenning form of X-linked mental retardation (RENS1; <a href="/entry/309500">309500</a>) on Xp11. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6602550" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Camerino, G., Mattei, M. G., Mattei, J. F., Jaye, M., Mandel, J. L. <strong>Close linkage of fragile X-linked mental retardation syndrome to haemophilia B and transmission through a normal male.</strong> Nature 306: 701-707, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6689201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6689201</a>] [<a href="https://doi.org/10.1038/306701a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6689201">Camerino et al. (1983)</a> found close linkage between the factor IX locus (F9; <a href="/entry/300746">300746</a>) on Xq27 and fragile X syndrome in a large affected family (lod score of 4.02 at a theta of 0.05 for Xq27). In addition, they demonstrated transmission of the disorder through a phenotypically normal male. They observed no meiotic recombination out of 17 opportunities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6689201" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#172" class="mim-tip-reference" title="Szabo, P., Purrello, M., Rocchi, M., Archidiacono, N., Alhadeff, B., Filippi, G., Toniolo, D., Martini, G., Luzzatto, L., Siniscalco, M. <strong>Cytological mapping of the human glucose-6-phosphate dehydrogenase gene distal to the fragile-X site suggests a high rate of meiotic recombination across this site.</strong> Proc. Nat. Acad. Sci. 81: 7855-7859, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6595664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6595664</a>] [<a href="https://doi.org/10.1073/pnas.81.24.7855" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6595664">Szabo et al. (1984)</a> determined that the G6PD locus is distal to the fragile X locus on Xq27.3. Although both G6PD and F9 have been linked to fragile X, F9 has been shown to segregate independently from deutan and protan (CBP; <a href="/entry/303900">303900</a>) color blindness in some families. <a href="#172" class="mim-tip-reference" title="Szabo, P., Purrello, M., Rocchi, M., Archidiacono, N., Alhadeff, B., Filippi, G., Toniolo, D., Martini, G., Luzzatto, L., Siniscalco, M. <strong>Cytological mapping of the human glucose-6-phosphate dehydrogenase gene distal to the fragile-X site suggests a high rate of meiotic recombination across this site.</strong> Proc. Nat. Acad. Sci. 81: 7855-7859, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6595664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6595664</a>] [<a href="https://doi.org/10.1073/pnas.81.24.7855" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6595664">Szabo et al. (1984)</a> concluded that the Xq27 region is a 'hotspot' for meiotic recombination; that the microscopically detectable change in fragile X syndrome is probably a minute chromosomal aberration resulting from an inaccurate recombination event; and that recombination is suppressed at the Xq27.3 region in heterozygous females. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6595664" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using intragenic RFLPs of factor IX in the study of 3 families with the fragile X syndrome, <a href="#45" class="mim-tip-reference" title="Forster-Gibson, C. J., Mulligan, L. M., Partington, M. W., Simpson, N. E., Holden, J. J. A., White, B. N. <strong>The genetic distance between the coagulation factor IX gene and the locus for the fragile X syndrome: clinical implications.</strong> J. Neurogenet. 2: 231-237, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3860635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3860635</a>] [<a href="https://doi.org/10.3109/01677068509100152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3860635">Forster-Gibson et al. (1985)</a> found a minimum of 4 recombinations in 9 meioses. A maximum lod score of 2.75 at theta 0.20 was estimated. The authors concluded that the genetic distance between fragile X and factor IX was too great for factor IX probes to be useful for carrier detection of fragile X syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3860635" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#189" class="mim-tip-reference" title="Warren, S. T., Glover, T. W., Davidson, R. L., Jagadeeswaran, P. <strong>Linkage and recombination between fragile X-linked mental retardation and the factor IX gene. (Letter)</strong> Hum. Genet. 69: 44-46, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3967889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3967889</a>] [<a href="https://doi.org/10.1007/BF00295528" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3967889">Warren et al. (1985)</a> reported a family in which 2 brothers with fragile X mental retardation had different factor IX RFLPs, indicating that a recombinational event occurred between the 2 loci. <a href="#13" class="mim-tip-reference" title="Brown, W. T., Gross, A. C., Chan, C. B., Jenkins, E. C. <strong>Genetic linkage heterogeneity in the fragile X syndrome.</strong> Hum. Genet. 71: 11-18, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2993154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2993154</a>] [<a href="https://doi.org/10.1007/BF00295659" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2993154">Brown et al. (1985)</a> found that pedigrees with nonpenetrant males showed tight linkage to factor IX, whereas the linkage was loose in those pedigrees with full penetrance in males. <a href="#53" class="mim-tip-reference" title="Giannelli, F., Morris, A. H., Garrett, C., Daker, M., Thurston, C., Smith, C. A. B. <strong>Genetic heterogeneity of X-linked mental retardation with fragile X: association of tight linkage to factor IX and incomplete penetrance in males.</strong> Ann. Hum. Genet. 51: 107-124, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3674751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3674751</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1987.tb01052.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3674751">Giannelli et al. (1987)</a> found that families with nonpenetrant carrier males showed tighter linkage to factor IX than did the others and suggested the existence of 2 fragile X loci. In a multilocus linkage analysis of 147 families, <a href="#14" class="mim-tip-reference" title="Brown, W. T., Gross, A., Chan, C., Jenkins, E. C., Mandel, J. L., Oberle, I., Arveiler, B., Novelli, G., Thibodeau, S., Hagerman, R., and 18 others. <strong>Multilocus analysis of the fragile X syndrome.</strong> Hum. Genet. 78: 201-205, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3162224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3162224</a>] [<a href="https://doi.org/10.1007/BF00291662" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3162224">Brown et al. (1988)</a> found significant variation in the recombination distance between F9 and FRAXA. Heterogeneity testing showed that 20% of the families had tight F9-FRAXA linkage, whereas 80% demonstrated loose linkage, with an average recombination distance of 0.35. On average, the multipoint distances found were DXS51-F9, 6.9%; F9-FRAXA, 22.4%; FRAXA-DXS52, 12.7%; and DXS52-DXS15, 2.2%. In 14 families with fragile X and 9 normal pedigrees from the CEPH collection, <a href="#175" class="mim-tip-reference" title="Thibodeau, S. N., Dorkins, H. R., Faulk, K. R., Berry, R., Smith, A. C. M., Hagerman, R., King, A., Davies, K. E. <strong>Linkage analysis using multiple DNA polymorphic markers in normal families and in families with fragile X syndrome.</strong> Hum. Genet. 79: 219-227, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3402993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3402993</a>] [<a href="https://doi.org/10.1007/BF00366240" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3402993">Thibodeau et al. (1988)</a> also observed genetic heterogeneity between the fragile X locus and the F9 locus, with recombination frequencies of DXS51-F9, 0%; F9-DXS52, 45%; DXS51-FRAXA, 15%; F9-FRAXA, 18%; DXS98-FRAXA, 36%; and DXS52-FRAXA, 15%. The authors proposed the relative order for the 5 loci as DXS51, F9, DXS98--FRAXA--DXS52. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2993154+3402993+3674751+3967889+3162224" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a 275-kb fragment of human DNA isolated in a yeast artificial chromosome (YAC) and thought to span the fragile site, <a href="#200" class="mim-tip-reference" title="Yu, S., Pritchard, M., Kremer, E., Lynch, M., Nancarrow, J., Baker, E., Holman, K., Mulley, J. C., Warren, S. T., Schlessinger, D., Sutherland, G. R., Richards, R. I. <strong>Fragile X genotype characterized by an unstable region of DNA.</strong> Science 252: 1179-1181, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2031189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2031189</a>] [<a href="https://doi.org/10.1126/science.252.5009.1179" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2031189">Yu et al. (1991)</a> derived 2 probes that spanned the fragile site as demonstrated by in situ hybridization. Mapping delineated further the sequences that appeared to span the fragile site to about 15 kb. A 5-kb EcoRI fragment was found to contain fragile site breakpoints. When this fragment was used as a probe on the chromosomal DNA of normal and fragile X individuals, alterations in the mobility of the sequences were found only in fragile X DNA. These sequences were of an increased size and varied within families, indicating that the region was unstable. The results were consistent with those of <a href="#128" class="mim-tip-reference" title="Oberle, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., Boue, J., Bertheas, M. F., Mandel, J. L. <strong>Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome.</strong> Science 252: 1097-1102, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2031184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2031184</a>] [<a href="https://doi.org/10.1126/science.252.5009.1097" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2031184">Oberle et al. (1991)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2031189+2031184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#144" class="mim-tip-reference" title="Richards, R. I., Holman, K., Kozman, H., Kremer, E., Lynch, M., Pritchard, M., Yu, S., Mulley, J., Sutherland, G. R. <strong>Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site.</strong> J. Med. Genet. 28: 818-823, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1757956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1757956</a>] [<a href="https://doi.org/10.1136/jmg.28.12.818" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1757956">Richards et al. (1991)</a> used microsatellite markers to position the fragile X locus within the multipoint map of the X chromosome to a position 3.7 cM distal to DXS297 and 1.2 cM proximal to DXS296. They described 2 polymorphic microsatellite AC repeat markers, FRAXAC1 and FRAXAC2, physically located within 10 kb and on either side of the (CCG)n repeat responsible for the fragile site. The 2 markers showed strong linkage disequilibrium and have heterozygosity of 44 and 71%, respectively. No recombination was observed either between these markers in 40 CEPH pedigrees or with FMR1 in affected pedigrees. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1757956" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#77" class="mim-tip-reference" title="Jacky, P. B., Dill, F. J. <strong>Expression in fibroblast culture of the satellited-X chromosome associated with familial sex-linked mental retardation.</strong> Hum. Genet. 53: 267-269, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6928413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6928413</a>] [<a href="https://doi.org/10.1007/BF00273509" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6928413">Jacky and Dill (1980)</a> detected the fragile X chromosome in cultured lymphocytes and fibroblasts from affected patients. <a href="#55" class="mim-tip-reference" title="Glover, T. W. <strong>FUdR induction of the X-chromosome fragile site: evidence for the mechanism of folic acid and thymidine inhibition.</strong> Am. J. Hum. Genet. 33: 234-242, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6452060/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6452060</a>]" pmid="6452060">Glover (1981)</a>, <a href="#178" class="mim-tip-reference" title="Tommerup, N., Poulsen, H., Brondum-Nielsen, K. <strong>5-Fluoro-2-prime-deoxyuridine induction of the fragile site on Xq28 associated with X-linked mental retardation.</strong> J. Med. Genet. 18: 374-376, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6460104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6460104</a>] [<a href="https://doi.org/10.1136/jmg.18.5.374" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6460104">Tommerup et al. (1981)</a>, and <a href="#79" class="mim-tip-reference" title="Jacobs, P. A., Hunt, P. A., Mayer, M., Wang, J.-C., Boss, G. R., Erbe, R. W. <strong>Expression of the marker(X)(q28) in lymphoblastoid cell lines.</strong> Am. J. Hum. Genet. 34: 552-557, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6213152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6213152</a>]" pmid="6213152">Jacobs et al. (1982)</a> demonstrated that pharmacologic inhibition of thymidylate synthetase (TYMS; <a href="/entry/188350">188350</a>) was effective in inducing the fragile X marker in cell cultures. <a href="#156" class="mim-tip-reference" title="Snyder, F. F., Lin, C. C., Harasym, C. A., Jamro, H. K., Kushnig, M. L., Lowe, J. K., O'Brien, S. I. <strong>Evidence for close association between the fragile X(q27-28) chromosome site and glucose-6-phosphate dehydrogenase (G6PD) but not with hypoxanthine-guanine phosphoribosyltransferase (HPRT). (Abstract)</strong> Cytogenet. Cell Genet. 37: 587, 1984."None>Snyder et al. (1984)</a> showed that culture conditions that promote expression of the fragile X site do not affect expression of lymphocyte HPRT but do cause a marked reduction in G6PD activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6213152+6460104+6452060+6928413" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#168" class="mim-tip-reference" title="Sutherland, G. R. <strong>Personal Communication.</strong> Adelaide, Australia 6/1989."None>Sutherland (1989)</a> indicated that there is a fragile site (FRAXD) located at Xq27.2, separate from the classic FRAXA site at Xq27.3 which is responsible for mental retardation. The FRAXD is inducible by high doses of aphidicolin. <a href="#138" class="mim-tip-reference" title="Ramos, F. J., Emanuel, B. S., Spinner, N. B. <strong>Frequency of the common fragile site at Xq27.2 under conditions of thymidylate stress: implications for cytogenetic diagnosis of the fragile-X syndrome.</strong> Am. J. Med. Genet. 42: 835-838, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1532475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1532475</a>] [<a href="https://doi.org/10.1002/ajmg.1320420618" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1532475">Ramos et al. (1992)</a> concluded that the fragile site at Xq27.2 can be demonstrated in normal persons under the conditions of thymidylate stress routinely used for cytogenetic diagnosis of the fragile X syndrome. Furthermore, this fragile site is present at low levels (1-2%) in all persons who express it and, therefore, its expression is unlikely to cause false-positive diagnoses of the syndrome. Lesions at Xq26 are also seen at low levels in lymphocytes of persons without the syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1532475" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#61" class="mim-tip-reference" title="Griffiths, M. J., Strachan, M. C. <strong>A single lymphocyte culture for fragile X induction and prometaphase chromosome analysis.</strong> J. Med. Genet. 28: 837-839, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1757959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1757959</a>] [<a href="https://doi.org/10.1136/jmg.28.12.837" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1757959">Griffiths and Strachan (1991)</a> described a technique, based on a culture system reported by <a href="#192" class="mim-tip-reference" title="Wheater, R. F., Roberts, S. H. <strong>An improved lymphocyte culture technique: deoxycytidine release of a thymidine block and use of a constant humidity chamber for slide making.</strong> J. Med. Genet. 24: 113-115, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3560169/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3560169</a>] [<a href="https://doi.org/10.1136/jmg.24.2.113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3560169">Wheater and Roberts (1987)</a>, that enabled the cytogeneticist to do fra(X) screening and prometaphase banding on the same specimen. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3560169+1757959" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using restriction enzymes, <a href="#128" class="mim-tip-reference" title="Oberle, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., Boue, J., Bertheas, M. F., Mandel, J. L. <strong>Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome.</strong> Science 252: 1097-1102, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2031184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2031184</a>] [<a href="https://doi.org/10.1126/science.252.5009.1097" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2031184">Oberle et al. (1991)</a> detected abnormally large-sized fragments and abnormal methylation around the fragile X site in affected males and carrier females. Some affected males appeared to be mosaics, with coexistence of a large methylated fragment and a smaller normal unmethylated fragment. Rare apparent false negatives were considered to be the result of genetic heterogeneity or misdiagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2031184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#147" class="mim-tip-reference" title="Rousseau, F., Heitz, D., Biancalana, V., Blumenfeld, S., Kretz, C., Boue, J., Tommerup, N., Van Der Hagen, C., DeLozier-Blanchet, C., Croquette, M.-F., Gilgenkrantz, S., Jalbert, P., Voelckel, M.-A., Oberle, I., Mandel, J.-L. <strong>Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.</strong> New Eng. J. Med. 325: 1673-1681, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1944467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1944467</a>] [<a href="https://doi.org/10.1056/NEJM199112123252401" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1944467">Rousseau et al. (1991)</a> concluded that direct DNA diagnosis of the fragile X syndrome is efficient and reliable. Southern analysis of EcoRI and EagI digests of DNA distinguished clearly in a single test between the normal genotype, the premutation, and the full mutation. All 103 affected males and 31 of 59 females with full mutations had mental retardation. Fifteen percent of those with full mutations had some cells carrying only the premutation. All of the mothers of affected children were carriers of either a premutation or a full mutation. Because of the certainty of DNA diagnosis, this method replaced cytogenetic detection of the fragile X chromosome, which carries a rate of misdiagnosis of about 5% for both false positives and the more frequent false negative conclusion, and diagnosis by the linkage principle, which gives a probabilistic result rather than an absolute one. <a href="#81" class="mim-tip-reference" title="Jacobs, P. A. <strong>The fragile X syndrome. (Editorial)</strong> J. Med. Genet. 28: 809-810, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1757953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1757953</a>] [<a href="https://doi.org/10.1136/jmg.28.12.809" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1757953">Jacobs (1991)</a>, however, stated that the cytogenetic marker still had an honorable role to play in the diagnosis of fragile X syndrome. It was reliable for virtually all males and for the majority of affected females and was the most efficient and cost effective methodology at that time. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1944467+1757953" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#112" class="mim-tip-reference" title="Mandel, J.-L., Hagerman, R., Froster, U., Brown, W. T., Jenkins, E. C., Jacobs, P., Turner, G., Lubs, H., Neri, G. <strong>Fifth International Workshop on the Fragile X and X-Linked Mental Retardation.</strong> Am. J. Med. Genet. 43: 5-27, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1605233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1605233</a>] [<a href="https://doi.org/10.1002/ajmg.1320430104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1605233">Mandel et al. (1992)</a> reported on the Fifth International Workshop on the Fragile X and X-Linked Mental Retardation held near Strasbourg, France, in August 1991. In addition to their summary, over 50 papers on the fragile X syndrome and 18 papers related to other X-linked mental retardation syndromes presented at the conference were published in the American Journal of Medical Genetics. <a href="#112" class="mim-tip-reference" title="Mandel, J.-L., Hagerman, R., Froster, U., Brown, W. T., Jenkins, E. C., Jacobs, P., Turner, G., Lubs, H., Neri, G. <strong>Fifth International Workshop on the Fragile X and X-Linked Mental Retardation.</strong> Am. J. Med. Genet. 43: 5-27, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1605233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1605233</a>] [<a href="https://doi.org/10.1002/ajmg.1320430104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1605233">Mandel et al. (1992)</a> reviewed the hypothesis of Patricia Jacobs which postulated 3 mutations: a change from a normal insert (N) to a small insert that is at low risk of converting to a large insert (S); a change from that type of small insert to a small insert at high risk of converting to a large insert (S*); and a change from the high risk small insert to a large insert (L) which is associated with clinical abnormality. Cytogenetic screening of the mentally handicapped for the fra(X) was equivalent to testing for individuals with a large insert (L) as there was no evidence that a small insert (S) has a deleterious effect on the phenotype. The consensus was that in diagnostic laboratories cytogenetics is still the method of choice, with subsequent molecular investigation of those patients found or suspected of being fra(X) positive; no consensus was reached on the relative merits of cytogenetics and molecular techniques for screening. <a href="#124" class="mim-tip-reference" title="Mulley, J. C., Yu, S., Gedeon, A. K., Donnelly, A., Turner, G., Loesch, D., Chapman, C. J., Gardner, R. J. M., Richards, R. I., Sutherland, G. R. <strong>Experience with direct molecular diagnosis of fragile X.</strong> J. Med. Genet. 29: 368-374, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1619631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1619631</a>] [<a href="https://doi.org/10.1136/jmg.29.6.368" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1619631">Mulley et al. (1992)</a> reported a high success rate with the direct molecular diagnosis of fragile X using the pfxa3 probe which detects amplification of an unstable DNA element consisting of variable length CCG repeats. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1605233+1619631" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#155" class="mim-tip-reference" title="Snow, K., Doud, L. K., Hagerman, R., Pergolizzi, R. G., Erster, S. H., Thibodeau, S. N. <strong>Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.</strong> Am. J. Hum. Genet. 53: 1217-1228, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7902673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7902673</a>]" pmid="7902673">Snow et al. (1993)</a> found that PCR followed by DNA sequencing of the FMR1 gene allowed the most accurate determination of CGG repeat numbers up to approximately 130 repeats. <a href="#183" class="mim-tip-reference" title="Turner, G., Webb, T., Wake, S., Robinson, H. <strong>Prevalence of fragile X syndrome.</strong> Am. J. Med. Genet. 64: 196-197, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8826475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8826475</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960712)64:1<196::AID-AJMG35>3.0.CO;2-G" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8826475">Turner et al. (1996)</a> suggested that the clinical definition of fragile X syndrome be redefined in males as a mental handicap associated with absolute or relative deficiency of the FMR1 protein. In the absence of a readily available protein test, analysis of the trinucleotide repeat size has been used for diagnosis. An increase in the size of the trinucleotide repeat over a particular value initiates methylation of the FMR gene promoter site and suppression of FMR1 gene transcription. Testing can identify individuals who lack FMR1 protein as a consequence of deletion of the gene but will not identify those individuals whose FMR1 protein is defective through mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8826475+7902673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Willemsen et al. (<a href="#194" class="mim-tip-reference" title="Willemsen, R., Mohkamsing, S., De Vries, B., Devys, D., van den Ouweland, A., Mandel, J. L., Galjaard, H., Oostra, B. <strong>Rapid antibody test for fragile X syndrome.</strong> Lancet 345: 1147-1148, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7723547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7723547</a>] [<a href="https://doi.org/10.1016/s0140-6736(95)90979-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7723547">1995</a>, <a href="#195" class="mim-tip-reference" title="Willemsen, R., Smits, A., Mohkamsing, S., van Beerendonk, H., de Haan, A., de Vries, B., van den Ouweland, A., Sistermans, A., Galjaard, H., Oostra, B. A. <strong>Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique.</strong> Hum. Genet. 99: 308-311, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9050914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9050914</a>] [<a href="https://doi.org/10.1007/s004390050363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9050914">1997</a>) developed a diagnostic method using mouse monoclonal antibodies against the FMR1 protein that allowed for detection of the fragile X syndrome in a blood smear. This noninvasive test required only 1 or 2 drops of blood and could be used to screen large groups of mentally retarded persons and neonates. <a href="#193" class="mim-tip-reference" title="Willemsen, R., Anar, B., De Diego Otero, Y., de Vries, B. B. A., Hilhorst-Hofstee, Y., Smits, A., van Looveren, E., Willems, P. J., Galjaard, H., Oostra, B. A. <strong>Noninvasive test for fragile X syndrome, using hair root analysis.</strong> Am. J. Hum. Genet. 65: 98-103, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364521</a>] [<a href="https://doi.org/10.1086/302462" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10364521">Willemsen et al. (1999)</a> modified the antibody test for application to hair roots. Mentally retarded female patients with a full mutation showed FMR protein expression in only some of their hair roots (less than 55%), and no overlap with normal female controls was observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10364521+9050914+7723547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#162" class="mim-tip-reference" title="Storm, K., Handig, I., Reyniers, E., Oostra, B. A., Kooy, R. F., Willems, P. J. <strong>Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome.</strong> Hum. Genet. 102: 54-56, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9490298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9490298</a>] [<a href="https://doi.org/10.1007/s004390050653" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9490298">Storm et al. (1998)</a> noted that incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome and suggested that HindIII digest be used instead of EcoRI to identify premutation vs normal fragment length in genomic DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9490298" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Abrams, M. T., Kaufmann, W. E., Rousseau, F., Oostra, B. A., Wolozin, B., Taylor, C. V., Lishaa, N., Morel, M.-L., Hoogeveen, A., Reiss, A. L. <strong>FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndrome.</strong> Am. J. Med. Genet. 82: 25-30, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9916838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9916838</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990101)82:1<25::aid-ajmg5>3.0.co;2-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9916838">Abrams et al. (1999)</a> examined olfactory neuroblasts from 2 mentally retarded, autistic brothers with fragile X expansion mutations in leukocytes. Olfactory neurons were chosen for study because they are accessible neurons that undergo regeneration and are closely linked to the brain. In both subjects, the genotype in neuroblasts was highly, but not perfectly, consistent with that observed in leukocytes. The results suggested that FMR1 mutation patterns in leukocytes are a good, albeit potentially fallible, reflection of such patterns in the brain and demonstrated the feasibility of using olfactory neuron samples to evaluate FMR1 mutations in humans in vivo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9916838" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#161" class="mim-tip-reference" title="Stoll, C. <strong>Problems in the diagnosis of fragile X syndrome in young children are still present.</strong> Am. J. Med. Genet. 100: 110-115, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11298371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11298371</a>] [<a href="https://doi.org/10.1002/1096-8628(20010422)100:2<110::aid-ajmg1242>3.0.co;2-i" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11298371">Stoll (2001)</a> presented 11 children under the age of 8 years and noted the difficulties in diagnosis of fragile X syndrome at this age. The author emphasized the importance of fragile X DNA testing in all children with mental retardation, autism, or significant developmental delay without a clear etiology. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11298371" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#111" class="mim-tip-reference" title="MacKenzie, J. J., Sumargo, I., Taylor, S. A. M. <strong>A cryptic full mutation in a male with a classical fragile X phenotype.</strong> Clin. Genet. 70: 39-42, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16813602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16813602</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00634.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16813602">MacKenzie et al. (2006)</a> reported a 46-year-old male patient with a typical fragile X syndrome phenotype who was found to be a somatic mosaic for the FMR1 repeat expansion. Analysis of peripheral blood detected a premutation allele of 58 CGG repeats, whereas skin fibroblasts yielded a full mutation allele of 500 CGG repeats. The authors suggested that the proband may have inherited a full mutation that has undergone selective contraction, given his age at molecular diagnosis. <a href="#111" class="mim-tip-reference" title="MacKenzie, J. J., Sumargo, I., Taylor, S. A. M. <strong>A cryptic full mutation in a male with a classical fragile X phenotype.</strong> Clin. Genet. 70: 39-42, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16813602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16813602</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00634.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16813602">MacKenzie et al. (2006)</a> concluded that testing of ectodermally derived tissues may provide improved diagnosis for fragile X syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16813602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#23" class="mim-tip-reference" title="Coffee, B., Keith, K., Albizua, I., Malone, T., Mowrey, J., Sherman, S. L., Warren, S. T. <strong>Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.</strong> Am. J. Hum. Genet. 85: 503-514, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19804849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19804849</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19804849[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.09.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19804849">Coffee et al. (2009)</a> reported the development of an assay for newborn screening of fragile X syndrome. The assay showed 100% specificity and 100% sensitivity for detecting FMR1 methylation on dried blood spots, thus successfully distinguishing normal males from those with the full mutation. The assay could also detect excess FMR1 methylation in 82% of females with full mutations, although the methylation status did not correlate with intellectual disability. With amelogenin PCR used for detecting the presence of a Y chromosome, this assay also detected males with Klinefelter syndrome (47,XXY). Among 64 males with FMR1 methylation, 7 were found to have full-mutation fragile X syndrome and 57 had Klinefelter syndrome. In their study of 36,124 newborn males, <a href="#23" class="mim-tip-reference" title="Coffee, B., Keith, K., Albizua, I., Malone, T., Mowrey, J., Sherman, S. L., Warren, S. T. <strong>Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.</strong> Am. J. Hum. Genet. 85: 503-514, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19804849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19804849</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19804849[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.09.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19804849">Coffee et al. (2009)</a> estimated the incidence of fragile X syndrome to be 1 in 5,161 newborn males, and that of Klinefelter syndrome to be 1 in 633. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19804849" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Carrier Females</em></strong></p><p>
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<a href="#177" class="mim-tip-reference" title="Toledano-Alhadef, H., Basel-Vanagaite, L., Magal, N., Davidov, B., Ehrlich, S., Drasinover, V., Taub, E., Halpern, G. J., Ginott, N., Shohat, M. <strong>Fragile X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.</strong> Am. J. Hum. Genet. 69: 351-360, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11443541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11443541</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11443541[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/321974" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11443541">Toledano-Alhadef et al. (2001)</a> tested 14,334 Israeli women of childbearing age for fragile X carrier status between 1992 and 2000. These women were either preconceptional or pregnant and had no family history of mental retardation. They identified 207 carriers of an allele with more than 50 repeats, representing a prevalence of 1:69. There were 127 carriers with more than 54 repeats, representing a prevalence of 1:113. Three asymptomatic women carried the full-mutation allele. Among the premutation and full-mutation carriers, 177 prenatal diagnoses were performed. Expansion occurred in 30 fetuses, 5 of which had an expansion to the full mutation. The authors recommended wide-scale screening to identify female carriers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11443541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 34 female full mutation carriers and unaffected female control relatives, <a href="#196" class="mim-tip-reference" title="Willemsen, R., Smits, A., Severijnen, L.-A., Jansen, M., Jacobs, A., De Bruyn, E., Oostra, B. <strong>Predictive testing for cognitive functioning in female carriers of the fragile X syndrome using hair root analysis.</strong> J. Med. Genet. 40: 377-379, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12746404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12746404</a>] [<a href="https://doi.org/10.1136/jmg.40.5.377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12746404">Willemsen et al. (2003)</a> found a correlation between cognitive function and the percentage of hair roots that expressed the FMRP protein. Cognitive function in the female carriers was much more strongly determined by the absence of FMRP than by genetic background. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12746404" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Angkustsiri, K., Wirojanan, J., Deprey, L. J., Gane, L. W., Hagerman, R. J. <strong>Fragile X syndrome with anxiety disorder and exceptional verbal intelligence.</strong> Am. J. Med. Genet. 146A: 376-379, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18203169/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18203169</a>] [<a href="https://doi.org/10.1002/ajmg.a.32118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18203169">Angkustsiri et al. (2008)</a> described a 23-year-old woman with the full fragile X mutation who had no dysmorphic features and above-average intelligence combined with significant impairments due to anxiety and learning disability. Her brother had fragile X syndrome, her mother was a premutation carrier, and her maternal grandfather was the first patient diagnosed with the fragile X tremor/ataxia syndrome (FXTAS; <a href="/entry/300623">300623</a> and <a href="#64" class="mim-tip-reference" title="Hagerman, R. J., Leehey, M., Heinrichs, W., Tassone, F., Wilson, R., Hills, J., Grigsby, J., Gage, B., Hagerman, P. J. <strong>Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.</strong> Neurology 57: 127-130, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11445641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11445641</a>] [<a href="https://doi.org/10.1212/wnl.57.1.127" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11445641">Hagerman et al., 2001</a>). <a href="#2" class="mim-tip-reference" title="Angkustsiri, K., Wirojanan, J., Deprey, L. J., Gane, L. W., Hagerman, R. J. <strong>Fragile X syndrome with anxiety disorder and exceptional verbal intelligence.</strong> Am. J. Med. Genet. 146A: 376-379, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18203169/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18203169</a>] [<a href="https://doi.org/10.1002/ajmg.a.32118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18203169">Angkustsiri et al. (2008)</a> concluded that women with fragile X syndrome can present primarily with learning and emotional problems and that clinicians should consider the diagnosis in these women regardless of their IQ, particularly if there are physical features or a family history consistent with fragile X syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18203169+11445641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
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<a href="#85" class="mim-tip-reference" title="Jenkins, E. C., Brown, W. T., Duncan, C. J., Brooks, J. <strong>Demonstration of the fragile X chromosome in amniotic fluid cells. (Abstract)</strong> Clin. Res. 30: 292A, 1982."None>Jenkins et al. (1982)</a> detected the fragile X marker in cultured amniocytes, enabling successful prenatal diagnosis. <a href="#84" class="mim-tip-reference" title="Jenkins, E. C., Brown, W. T., Brooks, J., Duncan, C. J., Rudelli, R. D., Wisniewski, H. M. <strong>Experience with prenatal fragile X detection.</strong> Am. J. Med. Genet. 17: 215-239, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6711597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6711597</a>] [<a href="https://doi.org/10.1002/ajmg.1320170114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6711597">Jenkins et al. (1984)</a> described prenatal diagnosis of 3 cases of fragile X syndrome based on cytogenetic analysis of cultured amniocytes. The testes of 2 positive fetuses appeared large for gestational age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6711597" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#164" class="mim-tip-reference" title="Sutherland, G. R., Gedeon, A., Kornman, L., Donnelly, A., Byard, R. W., Mulley, J. C., Kremer, E., Lynch, M., Pritchard, M., Yu, S., Richards, R. I. <strong>Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence.</strong> New Eng. J. Med. 325: 1720-1722, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1944473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1944473</a>] [<a href="https://doi.org/10.1056/NEJM199112123252407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1944473">Sutherland et al. (1991)</a> reported prenatal diagnosis of fragile X syndrome in a male fetus using direct analysis of an unstable sequence in DNA obtained by chorionic villus sampling. They used a probe referred to as pfxa3 to detect an abnormal 2.3-kb band in the fetus. Normal carrier males usually have a fragile X band that is between 1.1 and 1.6 kb. <a href="#198" class="mim-tip-reference" title="Yamauchi, M., Nagata, S., Seki, N., Toyama, Y., Harada, N., Niikawa, N., Masuno, I., Kajii, T., Hori, T. <strong>Prenatal diagnosis of fragile X syndrome by direct detection of the dynamic mutation due to an unstable DNA sequence.</strong> Clin. Genet. 44: 169-172, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8261644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8261644</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1993.tb03873.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8261644">Yamauchi et al. (1993)</a> used the diagnostic DNA probe pPCRfx1 to confirm that an at-risk fetus was a heterozygous female carrier. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1944473+8261644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#38" class="mim-tip-reference" title="Dreesen, J. C. F. M., Geraedts, J. P. M., Dumoulin, J. C. M., Evers, J. L. H., Pieters, M. H. E. C. <strong>RS46 (DXS548) genotyping of reproductive cells: approaching preimplantation testing of the fragile-X syndrome.</strong> Hum. Genet. 96: 323-329, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7649550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7649550</a>] [<a href="https://doi.org/10.1007/BF00210416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7649550">Dreesen et al. (1995)</a> approached preimplantation testing for the fragile X syndrome by genotyping the polymorphic DXS548 AC-repeat locus, which is closely linked to the FMR1 gene, in unfertilized oocytes and extruded polar bodies. They concluded that a PCR procedure could be performed within 16 hours after blastomere biopsy and that for carrier females heterozygous at the DXS548 locus, preimplantation testing with DXS548 is a possible alternative to prenatal testing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7649550" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Nomenclature of Expanded Trinucleotide Repeats</em></strong></p><p>
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The repeat involved in the fragile X syndrome is variously referred to here as (CGG)n or (CCG)n. The identical repeat found in the cloned FRAXE gene (<a href="/entry/309548">309548</a>) was referred to as (GCC)n by <a href="#91" class="mim-tip-reference" title="Knight, S. J. L., Flannery, A. V., Hirst, M. C., Campbell, L., Christodoulou, Z., Phelps, S. R., Pointon, J., Middleton-Price, H. R., Barnicoat, A., Pembrey, M. E., Holland, J., Oostra, B. A., Bobrow, M., Davies, K. E. <strong>Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.</strong> Cell 74: 127-134, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8334699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8334699</a>] [<a href="https://doi.org/10.1016/0092-8674(93)90300-f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8334699">Knight et al. (1993)</a>. There are only 10 different trinucleotide repeats, but each can be written in a number of ways. <a href="#169" class="mim-tip-reference" title="Sutherland, G. R. <strong>Personal Communication.</strong> Adelaide, Australia 11/3/1993."None>Sutherland (1993)</a> favored the convention that lists the motif in alphabetical order in the 5-prime to 3-prime direction. Consistent with this, he uses the (CCG)n designation. He preferred, furthermore, the designation (AGC)n for the other clinically significant dinucleotide repeat found in myotonic dystrophy (DM1; <a href="/entry/160900">160900</a>), Huntington disease (<a href="/entry/143100">143100</a>), Kennedy disease (SMAX1; <a href="/entry/313200">313200</a>), and SCA1 (<a href="/entry/164400">164400</a>); (CAG)n is the designation most often used. <a href="#169" class="mim-tip-reference" title="Sutherland, G. R. <strong>Personal Communication.</strong> Adelaide, Australia 11/3/1993."None>Sutherland (1993)</a> suggested that the same convention can apply to dinucleotides. He wrote: 'It must be very confusing for newcomers to the literature to find (AC)n, (CA)n, (GT)n, and (TG)n repeats, when the cognoscenti know these are synonyms.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8334699" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Fragile X Syndrome</em></strong></p><p>
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<a href="#94" class="mim-tip-reference" title="Kremer, E. J., Pritchard, M., Lynch, M., Yu, S., Holman, K., Baker, E., Warren, S. T., Schlessinger, D., Sutherland, G. R., Richards, R. I. <strong>Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.</strong> Science 252: 1711-1714, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1675488/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1675488</a>] [<a href="https://doi.org/10.1126/science.1675488" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1675488">Kremer et al. (1991)</a> demonstrated that the presence of an unstable expanded trinucleotide repeat sequence, designated p(CGG)n (<a href="/entry/309550#0004">309550.0004</a>), in the FMR1 gene is the basis of fragile X syndrome. The authors showed that normal X chromosomes have about 40 +/- 25 copies of p(CCG)n and that within these limits the sequence is a stable DNA polymorphism. The fragile X genotype was characterized by an increased amount of unstable DNA that maps to the repeat. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1675488" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#135" class="mim-tip-reference" title="Pieretti, M., Zhang, F., Fu, Y.-H., Warren, S. T., Oostra, B. A., Caskey, C. T., Nelson, D. L. <strong>Absence of expression of the FMR-1 gene in fragile X syndrome.</strong> Cell 66: 817-822, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1878973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1878973</a>] [<a href="https://doi.org/10.1016/0092-8674(91)90125-i" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1878973">Pieretti et al. (1991)</a> found absence of FMR1 mRNA in lymphoblastoid cell lines and leukocytes derived from patients with fragile X syndrome, whereas it was normally expressed in normal controls and carriers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1878973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#35" class="mim-tip-reference" title="Devys, D., Biancalana, V., Rousseau, F., Boue, J., Mandel, J. L., Oberle, I. <strong>Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development.</strong> Am. J. Med. Genet. 43: 208-216, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1605193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1605193</a>] [<a href="https://doi.org/10.1002/ajmg.1320430134" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1605193">Devys et al. (1992)</a> noted that there are 2 main types of mutations involved in fragile X syndrome. Premutations, which do not cause mental retardation, are characterized by an elongation of 70 to 500 bp with little or no somatic heterogeneity and without abnormal methylation. Full mutations are associated with high risk of mental retardation and consist of a 600 bp or more amplification, often with extensive somatic heterogeneity and abnormal DNA methylation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1605193" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="De Boulle, K., Verkerk, A. J. M. H., Reyniers, E., Vits, L., Hendrickx, J., Van Roy, B., Van Den Bos, F., de Graaff, E., Oostra, B. A., Willems, P. J. <strong>A point mutation in the FMR-1 gene associated with fragile X mental retardation.</strong> Nature Genet. 3: 31-35, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8490650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8490650</a>] [<a href="https://doi.org/10.1038/ng0193-31" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8490650">De Boulle et al. (1993)</a> identified a missense mutation in the FMR1 gene (I304N; <a href="/entry/309550#0001">309550.0001</a>) in a patient with a severe form of fragile X mental retardation, confirming that abnormality of the FMR1 gene underlies fragile X syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8490650" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#150" class="mim-tip-reference" title="Russo, S., Briscioli, V., Cogliati, F., Macchi, M., Lalatta, F., Larizza, L. <strong>An unusual fragile X sibship: female compound heterozygote and male with a partially methylated full mutation.</strong> Clin. Genet. 54: 309-314, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9831342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9831342</a>] [<a href="https://doi.org/10.1034/j.1399-0004.1998.5440408.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9831342">Russo et al. (1998)</a> described a female with borderline cognitive impairment who was compound heterozygous for a full FMR1 mutation and a premutation. The parents came from the same small village in Italy. The proband's mother and aunt reported that they had undergone premature ovarian failure at 35 years of age (see POF1, <a href="/entry/311360">311360</a>). <a href="#119" class="mim-tip-reference" title="Mila, M., Castellvi-Bel, S., Gine, R., Vazquez, C., Badenas, C., Sanchez, A., Estivill, X. <strong>A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion.</strong> Hum. Genet. 98: 419-421, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8792815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8792815</a>] [<a href="https://doi.org/10.1007/s004390050232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8792815">Mila et al. (1996)</a> reported a compound heterozygous Spanish female. <a href="#106" class="mim-tip-reference" title="Linden, M. G., Tassone, F., Gane, L. W., Hills, J. L., Hagerman, R. J., Taylor, A. K. <strong>Compound heterozygous female with fragile X syndrome.</strong> Am. J. Med. Genet. 83: 318-321, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10208169/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10208169</a>]" pmid="10208169">Linden et al. (1999)</a> reported a 15-year-old girl with fragile X syndrome who was compound heterozygous for a full expansion (363 repeats) and a premutation (103 repeats) in the FMR1 gene. Both parents carried premutations (98 repeats in the father, 146 repeats in the mother). Cognitively, this woman was functioning in the mid range of involvement for fragile X females. She attended regular classes and received supplemental assistance for her learning disabilities. She experienced behavioral characteristics typical of females with fragile X syndrome including severe shyness, anxiety, panic episodes, mood swings, and attention deficits. She responded well to appropriate treatment including fluoxetine for anxiety, methylphenidate for attention problems, and educational therapy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9831342+10208169+8792815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#62" class="mim-tip-reference" title="Gronskov, K., Brondum-Nielsen, K., Dedic, A., Hjalgrim, H. <strong>A nonsense mutation in FMR1 causing fragile X syndrome.</strong> Europ. J. Hum. Genet. 19: 489-491, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21267007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21267007</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21267007[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.223" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21267007">Gronskov et al. (2011)</a> identified a truncating mutation in the FMR1 gene (S27X; <a href="/entry/309550#0005">309550.0005</a>) in a man with classic features of fragile X syndrome. He had mental retardation, early-onset seizures, poor language development, and autistic tendencies. Dysmorphic features included an elongated face, high and broad forehead, low-set large ears, prognathia, and enlarged testes. Neurologic examination showed hypotonia and hypermobility, with hyperextensible joints. Western blot analysis of patient lymphoblastoid cells showed no FMRP protein expression. His mother, who also carried the mutation, had mild to moderate intellectual disability, hypermotor behavior, and automatisms. <a href="#62" class="mim-tip-reference" title="Gronskov, K., Brondum-Nielsen, K., Dedic, A., Hjalgrim, H. <strong>A nonsense mutation in FMR1 causing fragile X syndrome.</strong> Europ. J. Hum. Genet. 19: 489-491, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21267007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21267007</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21267007[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.223" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21267007">Gronskov et al. (2011)</a> noted that the frequency of point mutations in the FMR1 gene is unknown, since most screening techniques look for the expanded repeat. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21267007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Reviews</em></strong></p><p>
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<a href="#27" class="mim-tip-reference" title="D'Hulst, C., Kooy, R. F. <strong>Fragile X syndrome: from molecular genetics to therapy.</strong> J. Med. Genet. 46: 577-584, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19724010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19724010</a>] [<a href="https://doi.org/10.1136/jmg.2008.064667" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19724010">D'Hulst and Kooy (2009)</a> provided a review of fragile X syndrome, with a focus on molecular genetics. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19724010" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#80" class="mim-tip-reference" title="Jacobs, P. A. <strong>Personal Communication.</strong> Honolulu, Hawaii 1982."None>Jacobs (1982)</a> indicated that a reasonable estimate of frequency of fragile X syndrome is 0.5 per 1,000 males. Although many of the cases first ascertained were of northern European descent, affected males have since been found in most ethnic groups.</p><p>In Sweden, <a href="#10" class="mim-tip-reference" title="Blomquist, H. K., Gustavson, K.-H., Holmgren, G., Nordenson, I., Sweins, A. <strong>Fragile site X chromosomes and X-linked mental retardation in severely retarded boys in a northern Swedish county: a prevalence study.</strong> Clin. Genet. 21: 209-214, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7201364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7201364</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1982.tb00965.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7201364">Blomquist et al. (1982)</a> found that 6 of 96 Swedish boys with IQ less than 50 born between 1959 and 1970 had fraXq28. <a href="#9" class="mim-tip-reference" title="Blomquist, H. K., Bohman, M., Edvinsson, S. O., Gillberg, C., Gustavson, K.-H., Holmgren, G., Wahlstrom, J. <strong>Frequency of the fragile X syndrome in infantile autism: a Swedish multicenter study.</strong> Clin. Genet. 27: 113-117, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3978844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3978844</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1985.tb00196.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3978844">Blomquist et al. (1985)</a> found the fragile X in 13 (16%) of 83 boys but none of 129 girls with infantile autism. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7201364+3978844" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#191" class="mim-tip-reference" title="Webb, T. P., Bundey, S., Thake, A., Todd, J. <strong>The frequency of the fragile X chromosome among schoolchildren in Coventry.</strong> J. Med. Genet. 23: 396-399, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3783615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3783615</a>] [<a href="https://doi.org/10.1136/jmg.23.5.396" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3783615">Webb et al. (1986)</a> performed a population study of school children in the city of Coventry, England, and, using cytogenetic studies, gave an overall prevalence for fragile X syndrome in males and females of 1:952. <a href="#122" class="mim-tip-reference" title="Morton, J. E., Bundey, S., Webb, T. P., MacDonald, F., Rindl, P. M., Bullock, S. <strong>Fragile X syndrome is less common than previously estimated.</strong> J. Med. Genet. 34: 1-5, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9032640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9032640</a>] [<a href="https://doi.org/10.1136/jmg.34.1.1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9032640">Morton et al. (1997)</a> reevaluated the 29 children diagnosed with fragile X syndrome by <a href="#191" class="mim-tip-reference" title="Webb, T. P., Bundey, S., Thake, A., Todd, J. <strong>The frequency of the fragile X chromosome among schoolchildren in Coventry.</strong> J. Med. Genet. 23: 396-399, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3783615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3783615</a>] [<a href="https://doi.org/10.1136/jmg.23.5.396" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3783615">Webb et al. (1986)</a> and confirmed the presence of the FMR1 gene expansion in only 7 of the children, giving a revised prevalence of 1:2,720 to 1:5,714, depending on whether the 4 children lost to follow-up are included. On the basis of molecular genetic analysis, <a href="#183" class="mim-tip-reference" title="Turner, G., Webb, T., Wake, S., Robinson, H. <strong>Prevalence of fragile X syndrome.</strong> Am. J. Med. Genet. 64: 196-197, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8826475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8826475</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960712)64:1<196::AID-AJMG35>3.0.CO;2-G" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8826475">Turner et al. (1996)</a> reported that a prevalence of 1:4,000 or 2.4:10,000 was more realistic than the 1:1,000 reported by <a href="#191" class="mim-tip-reference" title="Webb, T. P., Bundey, S., Thake, A., Todd, J. <strong>The frequency of the fragile X chromosome among schoolchildren in Coventry.</strong> J. Med. Genet. 23: 396-399, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3783615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3783615</a>] [<a href="https://doi.org/10.1136/jmg.23.5.396" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3783615">Webb et al. (1986)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8826475+3783615+9032640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#42" class="mim-tip-reference" title="Filippi, G., Arslanian, A., Dagna-Bricarelli, F., Pierluigi, M., Grasso, M., Rinaldi, A., Rocchi, M., Siniscalco, M. <strong>Premutation for the Martin-Bell syndrome analyzed in a large pedigree segregating also for G6PD-deficiency. I. A working hypothesis on the nature of the FRAX-mutations.</strong> Am. J. Med. Genet. 40: 387-394, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1746598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1746598</a>] [<a href="https://doi.org/10.1002/ajmg.1320400402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1746598">Filippi et al. (1991)</a> reported findings in a very large Sardinian kindred spanning 6 generations and including 13 patients with Martin-Bell syndrome, several instances of normal transmitting males or females, and the G6PD Mediterranean (<a href="/entry/305900#0006">305900.0006</a>) mutant segregating in some of its branches. All the fragile X patients and the 15 obligate heterozygous women could be traced through their X-chromosome lineage to a woman in the first generation who must have been heterozygous for a silent premutation at the fragile X locus. <a href="#42" class="mim-tip-reference" title="Filippi, G., Arslanian, A., Dagna-Bricarelli, F., Pierluigi, M., Grasso, M., Rinaldi, A., Rocchi, M., Siniscalco, M. <strong>Premutation for the Martin-Bell syndrome analyzed in a large pedigree segregating also for G6PD-deficiency. I. A working hypothesis on the nature of the FRAX-mutations.</strong> Am. J. Med. Genet. 40: 387-394, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1746598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1746598</a>] [<a href="https://doi.org/10.1002/ajmg.1320400402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1746598">Filippi et al. (1991)</a> concluded that this premutation had been converted into a full mutation at least 9 times during the gametogenesis of this ancestor's X-related descendants, of whom 4 were males. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1746598" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#123" class="mim-tip-reference" title="Morton, N. E., Macpherson, J. N. <strong>Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus.</strong> Proc. Nat. Acad. Sci. 89: 4215-4217, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1570349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1570349</a>] [<a href="https://doi.org/10.1073/pnas.89.9.4215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1570349">Morton and Macpherson (1992)</a> proposed a model in which the fragile X mutation is postulated to occur as a multistep process. This attractive model provides a framework in which the seemingly contradictory observations of a mutation old enough to establish a founder effect and an apparently high new mutation rate are united. <a href="#123" class="mim-tip-reference" title="Morton, N. E., Macpherson, J. N. <strong>Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus.</strong> Proc. Nat. Acad. Sci. 89: 4215-4217, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1570349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1570349</a>] [<a href="https://doi.org/10.1073/pnas.89.9.4215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1570349">Morton and Macpherson (1992)</a> suggested that 4 types of alleles occur in the fragile X syndrome (see table in the review by <a href="#21" class="mim-tip-reference" title="Chakravarti, A. <strong>Fragile X founder effect?</strong> Nature Genet. 1: 237-238, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1302018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1302018</a>] [<a href="https://doi.org/10.1038/ng0792-237" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1302018">Chakravarti, 1992</a>). The 4 types of alleles were as follows: N = normal, with a frequency of 0.9751; S = stable insert with a frequency of 0.0225 and a mean age of about 90 generations; Z = unstable insert with a frequency of 0.0014 and a mean age of 2 generations; and L = mutation with a frequency of 0.0010 and a mean age of 1.4 generations. Thus myotonic dystrophy (DM1; <a href="/entry/160900">160900</a>) and fragile X appear to share both the phenomenon of anticipation and the phenomenon of founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1302018+1570349" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#145" class="mim-tip-reference" title="Richards, R. I., Sutherland, G. R. <strong>Dynamic mutations: a new class of mutations causing human disease.</strong> Cell 70: 709-712, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1516128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1516128</a>] [<a href="https://doi.org/10.1016/0092-8674(92)90302-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1516128">Richards and Sutherland (1992)</a> referred to the amplification mutation involving (CCG)n in the fragile X syndrome and the trinucleotide repeats in myotonic dystrophy and Kennedy disease as 'dynamic mutations.' In studies using 2 polymorphic CA repeats located close to the 'mutation target' for the fragile X syndrome, <a href="#131" class="mim-tip-reference" title="Oudet, C., Mornet, E., Serre, J. L., Thomas, F., Lentes-Zengerling, S., Kretz, C., Deluchat, C., Tejada, I., Boue, J., Boue, A., Mandel, J. L. <strong>Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes.</strong> Am. J. Hum. Genet. 52: 297-304, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8094266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8094266</a>]" pmid="8094266">Oudet et al. (1993)</a> observed significant differences in allelic and haplotypic distributions between normal and fragile X chromosomes, indicating that a limited number of primary events may have been at the origin of most present-day fragile X chromosomes in Caucasian populations. They proposed a putative scheme with 6 founder chromosomes from which most of the observed fragile X-linked haplotypes can be derived directly or by a single event at one of the marker loci. Such founder chromosomes may have carried a number of CGG repeats in an upper-normal range, from which recurrent multistep expansion mutations have arisen. The diversity of haplotypes at the fragile X locus may reflect genetic heterogeneity but may also be explained by mutations in the markers themselves. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1516128+8094266" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#143" class="mim-tip-reference" title="Richards, R. I., Holman, K., Friend, K., Kremer, E., Hillen, D., Staples, A., Brown, W. T., Goonewardena, P., Tarleton, J., Schwartz, C., Sutherland, G. R. <strong>Evidence of founder chromosomes in fragile X syndrome.</strong> Nature Genet. 1: 257-260, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1302021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1302021</a>] [<a href="https://doi.org/10.1038/ng0792-257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1302021">Richards et al. (1992)</a> presented haplotype evidence for a founder effect in the fragile X mutation. They found clear evidence of linkage disequilibrium between fragile X and 2 polymorphic microsatellite markers that flank FMR1 and are within 10 kb of the (CCG)n repeat. These markers have 5 to 7 alleles, show no recombination with each other, and define 15 haplotypes. In an analysis of 134 fragile X chromosomes from unrelated affected individuals in Australia and the United States, they found that 58% of the fragile X mutations occurred on the 3 backgrounds that account for 18% of normal chromosomes. Correspondingly, the single most common normal haplotype, which has a frequency of 50%, carries only 18% of fragile X mutations. The data argued for the expected occurrence of multiple, independent mutations, but also indicated the unexpectedly long history of some of these fragile X mutations. Using the FRAXAC1 polymorphic marker in the study of a large number of patients, <a href="#70" class="mim-tip-reference" title="Hirst, M. C., Knight, S. J. L., Christodoulou, Z., Grewal, P. K., Fryns, J. P., Davies, K. E. <strong>Origins of the fragile X syndrome mutation.</strong> J. Med. Genet. 30: 647-650, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8411050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8411050</a>] [<a href="https://doi.org/10.1136/jmg.30.8.647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8411050">Hirst et al. (1993)</a> found its allele distribution to be strikingly different on fragile X chromosomes, confirming earlier observations and giving further support to the suggestion of a fragile X founder effect (<a href="#143" class="mim-tip-reference" title="Richards, R. I., Holman, K., Friend, K., Kremer, E., Hillen, D., Staples, A., Brown, W. T., Goonewardena, P., Tarleton, J., Schwartz, C., Sutherland, G. R. <strong>Evidence of founder chromosomes in fragile X syndrome.</strong> Nature Genet. 1: 257-260, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1302021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1302021</a>] [<a href="https://doi.org/10.1038/ng0792-257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1302021">Richards et al., 1992</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8411050+1302021" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#63" class="mim-tip-reference" title="Haataja, R., Vaisanen, M.-L., Li, M., Ryynanen, M., Leisti, J. <strong>The fragile X syndrome in Finland: demonstration of a founder effect by analysis of microsatellite haplotypes.</strong> Hum. Genet. 94: 479-483, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959680</a>] [<a href="https://doi.org/10.1007/BF00211011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959680">Haataja et al. (1994)</a> presented evidence for a founder effect of fragile X syndrome in Finland arising from a common ancestor in the 16th century. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7959680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a study of 122 Israeli families affected with the fragile X syndrome diagnosed in 7 genetic centers, <a href="#29" class="mim-tip-reference" title="Dar, H., Schaap, T., Bait-Or, H., Borochowitz, Z., Gelman-Kohan, Z., Chemke, T., Chaki, R., Cohen, H., Falik-Borenstein, Z., Chemke, J. <strong>Ethnic distribution of the fragile X syndrome in Israel: evidence of founder chromosomes(?).</strong> Isr. J. Med. Sci. 31: 323-325, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7759228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7759228</a>]" pmid="7759228">Dar et al. (1995)</a> found that Tunisian Jews, who comprise only 4% of the general population, accounted for 21% of the fragile X families, suggesting founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7759228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#149" class="mim-tip-reference" title="Rousseau, F., Rouillard, P., Morel, M.-L., Khandjian, E. W., Morgan, K. <strong>Prevalence of carriers of premutation-size alleles of the FMR1 gene--and implications for the population genetics of the fragile X syndrome.</strong> Am. J. Hum. Genet. 57: 1006-1018, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7485149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7485149</a>]" pmid="7485149">Rousseau et al. (1995)</a> reported a population frequency of 1 in 259 for female carriers of an allele of more than 54 repeats. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7485149" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The CGG repeat, which is normally polymorphic in length, is frequently interrupted by AGG triplets, which are believed to stabilize the repeat. The absence of AGG triplets, leading to long tracts of perfect CGG repeats, may give rise to predisposed alleles. <a href="#95" class="mim-tip-reference" title="Kunst, C. B., Zerylnick, C., Karickhoff, L., Eichler, E., Bullard, J., Chalifoux, M., Holden, J. J. A., Torroni, A., Nelson, D. L., Warren, S. T. <strong>FMR1 in global populations.</strong> Am. J. Hum. Genet. 58: 513-522, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644711</a>]" pmid="8644711">Kunst et al. (1996)</a> determined the repeat length of 345 chromosomes from 9 populations from various parts of the world and used automated DNA sequencing to assess 14 of them. They found that the FMR1 alleles were very heterogeneous, although the level of variation correlated with the age and/or genetic history of a particular population. Native American alleles, interrupted by 3 AGG repeats, exhibited marked stability over 7,000 years. However, in older African populations, parsimony analysis predicted the occasional loss of an AGG, leading to more perfect CGG repeats. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8644711" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Studies of (CGG)n repeat structures of selected human populations showed a high degree of conservation of the canonical (CGG)9AGG interruption pattern in different populations and confirmed the proposed stabilizing effect of AGG interruptions (<a href="#39" class="mim-tip-reference" title="Eichler, E. E., Nelson, D. L. <strong>Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations.</strong> Am. J. Med. Genet. 64: 220-225, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8826480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8826480</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960712)64:1<220::AID-AJMG40>3.0.CO;2-M" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8826480">Eichler and Nelson, 1996</a>). In the native population of Greenland, <a href="#102" class="mim-tip-reference" title="Larsen, L. A., Armstrong, J. S. M., Gronskov, K., Hjalgrim, H., Brondum-Nielsen, K., Hasholt, L., Norgaard-Pedersen, B., Vuust, J. <strong>Analysis of FMR1 (CGG)n alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from Asia.</strong> Europ. J. Hum. Genet. 7: 771-777, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10573009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10573009</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200374" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10573009">Larsen et al. (1999)</a> found a narrow distribution of (CGG)n allele sizes, similar to that reported for Asian populations. DNA sequencing of alleles with 36 CGG repeats revealed an AGG(CGG)6 insertion previously reported exclusively in Asian populations and a high frequency of 2 other sequence patterns. The data confirmed the Asian origin of the Greenlandic (Eskimo) population and indicated that some (CGG)n alleles have remained stable for 15,000 to 30,000 years, since the population of the New World arrived from Asia via the Bering Strait. The findings added new evidence for the 'out of Asia' theory of the colonization of the New World (<a href="#20" class="mim-tip-reference" title="Cavalli-Sforza, L., Menozzi, P., Piazza, A. <strong>The History and Geography of Human Genes.</strong> Princeton: Princeton University Press 1994."None>Cavalli-Sforza et al., 1994</a>). Studies in Native Americans (Amerinds) had not shown the (CGG)6AGG insertion. This may be due to the relatively small sample sizes in these studies, but may also be caused either by a later migration of the Eskimo population compared with the Amerind and the Na-dene populations (as proposed in the '3 migrations theory' <a href="#60" class="mim-tip-reference" title="Greenberg, J. H., Turner, C. G., II, Zegura, S. L. <strong>The settlement of the Americas: a comparison of the linguistic, dental, and genetic evidence.</strong> Curr. Anthrop. 27: 477-497, 1986."None>Greenberg et al., 1986</a> or by genetic bottlenecks during the population of the New World (<a href="#188" class="mim-tip-reference" title="Wallace, D. C., Torroni, A. <strong>American Indian prehistory as written in the mitochondrial DNA: a review.</strong> Hum. Biol. 64: 403-416, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1351474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1351474</a>]" pmid="1351474">Wallace and Torroni, 1992</a>)). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10573009+8826480+1351474" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#56" class="mim-tip-reference" title="Goldman, A., Krause, A., Jenkins, T. <strong>Fragile X syndrome occurs in the South African black population. (Editorial)</strong> S. Afr. Med. J. 87: 418-420, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9254780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9254780</a>]" pmid="9254780">Goldman et al. (1997)</a> reported that the prevalence of FRAXA syndrome among institutionalized South African blacks was similar to that reported in the literature for institutionalized white populations. <a href="#25" class="mim-tip-reference" title="Crawford, D. C., Meadows, K. L., Newman, J. L., Taft, L. F., Pettay, D. L., Gold, L. B., Hersey, S. J., Hinkle, E. F., Stanfield, M. L., Holmgreen, P., Yeargin-Allsopp, M., Boyle, C., Sherman, S. L. <strong>Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population.</strong> Am. J. Hum. Genet. 64: 495-507, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973286</a>] [<a href="https://doi.org/10.1086/302260" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9973286">Crawford et al. (1999)</a> found that the prevalence of the FRAXA full mutation in African American males was approximately the same as that in Caucasian American males. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9254780+9973286" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Beresford, R. G., Tatlidil, C., Riddell, D. C., Welch, J. P., Ludman, M. D., Neumann, P. E., Greer, W. L. <strong>Absence of fragile X syndrome in Nova Scotia.</strong> J. Med. Genet. 37: 77-79, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10691418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10691418</a>] [<a href="https://doi.org/10.1136/jmg.37.1.77" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10691418">Beresford et al. (2000)</a> reported molecular analysis of 177 males with mental handicap and 1,226 random alleles from Guthrie newborn screening samples in Nova Scotia. No FMR1 premutations or mutations were found. <a href="#6" class="mim-tip-reference" title="Beresford, R. G., Tatlidil, C., Riddell, D. C., Welch, J. P., Ludman, M. D., Neumann, P. E., Greer, W. L. <strong>Absence of fragile X syndrome in Nova Scotia.</strong> J. Med. Genet. 37: 77-79, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10691418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10691418</a>] [<a href="https://doi.org/10.1136/jmg.37.1.77" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10691418">Beresford et al. (2000)</a> also noted that only 1 case of fragile X had been reported in this region since 1980, in an individual who had moved from elsewhere in Canada. <a href="#6" class="mim-tip-reference" title="Beresford, R. G., Tatlidil, C., Riddell, D. C., Welch, J. P., Ludman, M. D., Neumann, P. E., Greer, W. L. <strong>Absence of fragile X syndrome in Nova Scotia.</strong> J. Med. Genet. 37: 77-79, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10691418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10691418</a>] [<a href="https://doi.org/10.1136/jmg.37.1.77" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10691418">Beresford et al. (2000)</a> concluded that the fragile X syndrome was rare in Nova Scotia, a phenomenon they found remarkable given the high prevalence of other rare heritable disorders in the region and that the population has tens of thousands of founders from multiple founding groups. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10691418" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#103" class="mim-tip-reference" title="Larsen, L. A., Vuust, J., Nystad, M., Evseeva, I., Van Ghelue, M., Tranebjaerg, L. <strong>Analysis of FMR1 (CGG)n alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: traces of genetic relationship with Asia.</strong> Europ. J. Hum. Genet. 9: 724-727, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11571563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11571563</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200697" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11571563">Larsen et al. (2001)</a> analyzed the AGG interspersion pattern of the (CGG)n repeat and the haplotype distribution of 2 closely located microsatellite markers in 3 circumarctic populations: Norwegians, Saami, and Nenets. The data indicated the existence of chromosomes of Asian origin in the Saami and Nenets populations. Haplotype analysis of Norwegian fragile X males compared to other populations showed that the fragile X founder haplotypes may vary between populations and that the CGG expansion associated with fragile X syndrome may originate from subpopulations of unstable alleles within the normal population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11571563" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Several population-based studies in Caucasians of mostly northern European descent established that the prevalence of the fragile X syndrome is probably between 1 in 6,000 and 1 in 4,000 males. <a href="#26" class="mim-tip-reference" title="Crawford, D. C., Meadows, K. L., Newman, J. L., Taft, L. F., Scott, E., Leslie, M., Shubek, L., Holmgreen, P., Yeargin-Allsopp, M., Boyle, C., Sherman, S. L. <strong>Prevalence of the fragile X syndrome in African-Americans.</strong> Am. J. Med. Genet. 110: 226-233, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12116230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12116230</a>] [<a href="https://doi.org/10.1002/ajmg.10427" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12116230">Crawford et al. (2002)</a> presented the final results of a 4-year study in the metropolitan area of Atlanta, Georgia, establishing the prevalence of the fragile X syndrome and the frequency of CGG repeat variants in a large Caucasian and African American population. They found that one-quarter to one-third of the children identified with the fragile X syndrome attending Atlanta public schools were not diagnosed before the age of 10 years. Also, a revised prevalence for the syndrome revealed a higher point estimate for African American males (1/2,545; 95% CI 1/5,208-1/1,289) than reported previously, although confidence intervals included the prevalence estimated for Caucasians from this and other studies (1/3,717; 95% CI 1/7,692-1/1,869). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12116230" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#120" class="mim-tip-reference" title="Mingroni-Netto, R. C., Angeli, C. B., Auricchio, M. T. B. M., Leal-Mesquita, E. R., Ribeiro-dos-Santos, A. K. C., Ferrari, I., Hutz, M. H., Salzano, F. M., Hill, K., Hurtado, A. M., Vianna-Morgante, A. M. <strong>Distribution of CGG repeats and FRAXAC1/DXS548 alleles in South American populations.</strong> Am. J. Med. Genet. 111: 243-252, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12210320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12210320</a>] [<a href="https://doi.org/10.1002/ajmg.10572" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12210320">Mingroni-Netto et al. (2002)</a> studied the distribution of CGG repeats and DXS548/FRAXAC1 haplotypes in normal South American populations of different ethnic backgrounds. They found that some rare alleles that seem nearly absent in Europe occurred in higher frequencies among African Brazilians, which suggested a general trend for higher genetic diversity among Africans. Thus, the rarer alleles could be African in origin and would have been lost or possibly not present in the groups that gave rise to Europeans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12210320" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#37" class="mim-tip-reference" title="Dombrowski, C., Levesque, S., Morel, M. L., Rouillard, P., Morgan, K., Rousseau, F. <strong>Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles.</strong> Hum. Molec. Genet. 11: 371-378, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11854169/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11854169</a>] [<a href="https://doi.org/10.1093/hmg/11.4.371" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11854169">Dombrowski et al. (2002)</a> screened 10,572 independent French Canadian males for premutation-size FMR1 alleles and identified 13 who carried alleles of more than 54 repeats, which corresponded to a population frequency of 1 in 813. Haplotype analysis of the 13 identified male carriers revealed that the prevalence of the major fragile X mutation-associated haplotype was increased among FMR1 alleles of 40 to 54 repeats. Although sequencing of highly unstable premutation alleles from fragile X families revealed only pure CGG tracts, 48 of 49 males from the general population with 40 or more triplets had 1 to 2 AGG interruptions. This suggests that the loss of an AGG interruption in the triplet repeat array may not be necessary for expansion of normal alleles of 29 to 30 triplets to intermediate size. The authors concluded that loss of AGG interruptions appears to be a late event that may lead to greatly increased instability and may be related to the haplotype background of specific FMR1 alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11854169" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Biancalana, V., Beldjord, C., Taillandier, A., Szpiro-Tapia, S., Cusin, V., Gerson, F., Philippe, C., Mandel, J.-L., French National Working Group on Fragile X Syndrome. <strong>Five years of molecular diagnosis of fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France.</strong> Am. J. Med. Genet. 129A: 218-224, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15326620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15326620</a>] [<a href="https://doi.org/10.1002/ajmg.a.30237" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15326620">Biancalana et al. (2004)</a> reported the molecular diagnosis of fragile X syndrome in France during the 5-year period from 1997 to 2001: 477 families were diagnosed with fragile X syndrome, representing 2.8% of tested male probands and 1% of tested female probands. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15326620" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#41" class="mim-tip-reference" title="Fatima, T., Zaidi, S. A. H., Sarfraz, S., Perween, S., Khurshid, F., Imtiaz, F. <strong>Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in Pakistan.</strong> Am. J. Med. Genet. 164A: 1151-1161, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24478267/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24478267</a>] [<a href="https://doi.org/10.1002/ajmg.a.36423" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24478267">Fatima et al. (2014)</a> found the FMR1 full mutation in 15 (6.5%) of 229 Pakistani boys and in 1 (0.9%) of 104 girls with intellectual disability. The overall frequency among intellectually disabled children in this population was 4.8%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24478267" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The X-linked mental retardation reported by <a href="#113" class="mim-tip-reference" title="Martin, J. P., Bell, J. <strong>A pedigree of mental defect showing sex-linkage.</strong> J. Neurol. Psychiat. 6: 154-157, 1943.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21611430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21611430</a>] [<a href="https://doi.org/10.1136/jnnp.6.3-4.154" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21611430">Martin and Bell (1943)</a> is the same as the fragile X syndrome. <a href="#130" class="mim-tip-reference" title="Opitz, J. M., Westphal, J. M., Daniel, A. <strong>Discovery of a connective tissue dysplasia in the Martin-Bell syndrome.</strong> Am. J. Med. Genet. 17: 101-109, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6711589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6711589</a>] [<a href="https://doi.org/10.1002/ajmg.1320170105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6711589">Opitz et al. (1984)</a> referred to this disorder as the 'Martin-Bell syndrome' on the assumption that the family reported from the Queen Square Hospital in London by J. Purdon Martin and Julia Bell (<a href="#113" class="mim-tip-reference" title="Martin, J. P., Bell, J. <strong>A pedigree of mental defect showing sex-linkage.</strong> J. Neurol. Psychiat. 6: 154-157, 1943.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21611430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21611430</a>] [<a href="https://doi.org/10.1136/jnnp.6.3-4.154" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21611430">Martin and Bell, 1943</a>) had that disorder. Although macroorchidism was not mentioned by <a href="#113" class="mim-tip-reference" title="Martin, J. P., Bell, J. <strong>A pedigree of mental defect showing sex-linkage.</strong> J. Neurol. Psychiat. 6: 154-157, 1943.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21611430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21611430</a>] [<a href="https://doi.org/10.1136/jnnp.6.3-4.154" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21611430">Martin and Bell (1943)</a>, one of the patients was described as having a 'big face and jaw;' furthermore, at least 9 of the affected males were maternal grandsons of 2 unaffected brothers. All but 1 of the mothers of affected males were daughters of these 2 brothers, the other being their sister. <a href="#113" class="mim-tip-reference" title="Martin, J. P., Bell, J. <strong>A pedigree of mental defect showing sex-linkage.</strong> J. Neurol. Psychiat. 6: 154-157, 1943.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21611430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21611430</a>] [<a href="https://doi.org/10.1136/jnnp.6.3-4.154" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21611430">Martin and Bell (1943)</a> hypothesized that some controlling factor caused suppression of the disease in the 2 grandfathers without affecting their liability to transmit it. For a superb biography of Julia Bell (1879-1979), see <a href="#15" class="mim-tip-reference" title="Bundey, S. <strong>Julia Bell, MRCS LRCP FRCP (1879-1979): Steamboat lady, statistician and geneticist.</strong> J. Med. Biogr. 4: 8-13, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11615351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11615351</a>] [<a href="https://doi.org/10.1177/096777209600400102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11615351">Bundey (1996)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11615351+6711589+21611430" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#142" class="mim-tip-reference" title="Richards, B. W., Sylvester, P. E., Brooker, C. <strong>Fragile X-linked mental retardation: the Martin-Bell syndrome.</strong> J. Ment. Defic. Res. 25: 253-256, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7328634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7328634</a>] [<a href="https://doi.org/10.1111/j.1365-2788.1981.tb00115.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7328634">Richards et al. (1981)</a> followed up on the Martin-Bell kindred, demonstrating that it was indeed the fragile X syndrome. The original index patient was then aged 56. All 4 affected males who had adequate karyotyping showed the fragile X syndrome in 17 to 50% of their cells. The other major contribution of Julia Bell was in the defining of many hereditary disorders, such as the forms of brachydactyly, on the basis of massive collections of pedigrees in the famous Treasury of Human Inheritance. She also collaborated with J. B. S. Haldane in the first estimation of linkage in the human, that of colorblindness and hemophilia (<a href="#5" class="mim-tip-reference" title="Bell, J., Haldane, J. B. S. <strong>The linkage between the genes for colour-blindness and haemophilia in man.</strong> Proc. Roy. Soc. London 123B: 119-150, 1937."None>Bell and Haldane, 1937</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7328634" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>According to <a href="#129" class="mim-tip-reference" title="Opitz, J. M., Sutherland, G. R. <strong>International workshop on the fragile X and X-linked mental retardation.</strong> Am. J. Med. Genet. 17: 5-94, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6369987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6369987</a>] [<a href="https://doi.org/10.1002/ajmg.1320170103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6369987">Opitz and Sutherland (1984)</a>, Escalante, a graduate student with Frota-Pessoa in Sao Paulo, Brazil, and Drs. Bryan and Gillian Turner in Sydney, Australia, independently noted the association of macroorchidism with X-linked mental retardation in the late 1960s. <a href="#40" class="mim-tip-reference" title="Escalante, J. A., Grunspun, H., Frota-Pessoa, O. <strong>Severe sex-linked mental retardation.</strong> J. Genet. Hum. 19: 137-140, 1971."None>Escalante et al. (1971)</a> published their findings (which they had reported in 1969 at the Warsaw Congress of the International Association for the Scientific Study of Mental Deficiency) in the Journal de Genetique Humaine. While visiting the Drs. Turner in Sydney, <a href="#117" class="mim-tip-reference" title="McKusick, V. A. <strong>Personal Communication.</strong> Sydney, Australia 3/1970."None>McKusick (1970)</a> examined several patients with mental retardation and macroorchidism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6369987" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Antibiotics such as Bactrim (Roche) and Septra (Burroughs Wellcome) contain trimethoprim, which can lower folate levels by inhibition of dihydrofolate reductase. <a href="#68" class="mim-tip-reference" title="Hecht, F., Glover, T. W. <strong>Antibiotics containing trimethoprim and the fragile X chromosome. (Letter)</strong> New Eng. J. Med. 308: 285-286, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6848950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6848950</a>] [<a href="https://doi.org/10.1056/NEJM198302033080523" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6848950">Hecht and Glover (1983)</a> urged avoidance of trimethoprim and other folate antagonists in pregnant women who are at risk for having a child with the fragile X syndrome. <a href="#104" class="mim-tip-reference" title="Lejeune, J., Legrand, N., Lafourcade, J., Rethore, M.-O., Raoul, O., Maunoury, C. <strong>Fragilite du chromosome X et effets de la trimethoprime.</strong> Ann. Genet. 25: 149-151, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6982662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6982662</a>]" pmid="6982662">Lejeune et al. (1982)</a> described severe clinical regression of psychomotor development in a 2-year-old boy with the fragile X syndrome while on trimethoprim. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6982662+6848950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#46" class="mim-tip-reference" title="Froster-Iskenius, U., Schulze, A., Schwinger, E. <strong>Transmission of the marker X syndrome trait by unaffected males: conclusions from studies of large families.</strong> Hum. Genet. 67: 419-427, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6593289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6593289</a>] [<a href="https://doi.org/10.1007/BF00291403" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6593289">Froster-Iskenius et al. (1984)</a> raised the possibility of an autosomal suppressor system to account for the transmission of the marker X syndrome by unaffected males. <a href="#159" class="mim-tip-reference" title="Steinbach, P. <strong>Mental impairment in Martin-Bell syndrome is probably determined by interaction of several genes: simple explanation of phenotypic differences between unaffected and affected males with the same X chromosome.</strong> Hum. Genet. 72: 248-252, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3957348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3957348</a>] [<a href="https://doi.org/10.1007/BF00291888" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3957348">Steinbach (1986)</a> and <a href="#76" class="mim-tip-reference" title="Israel, M. H. <strong>Autosomal suppressor gene for fragile-X: an hypothesis.</strong> Am. J. Med. Genet. 26: 19-31, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3812562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3812562</a>] [<a href="https://doi.org/10.1002/ajmg.1320260106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3812562">Israel (1987)</a> also postulated an autosomal suppressor gene or modifier to explain the occurrence of mentally normal males who transmit the fragile X gene to their daughters and the fact that while about one-third of all female carriers have mental impairment, mothers and daughters of these mentally normal transmitting males are rarely, if ever, mentally impaired. <a href="#159" class="mim-tip-reference" title="Steinbach, P. <strong>Mental impairment in Martin-Bell syndrome is probably determined by interaction of several genes: simple explanation of phenotypic differences between unaffected and affected males with the same X chromosome.</strong> Hum. Genet. 72: 248-252, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3957348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3957348</a>] [<a href="https://doi.org/10.1007/BF00291888" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3957348">Steinbach (1986)</a> designated the modifier genes as D and N, the equivalent of Israel's s and S, respectively. Essentially the models were identical: normal male transmitters of fragile X were suggested to be homozygous for S (or N), while normal female transmitters are either homozygous for S or heterozygous, Ss (ND). <a href="#154" class="mim-tip-reference" title="Sherman, S. L. <strong>A new genetic model for the fragile X syndrome involving an autosomal suppressor gene--comments on the paper by M. H. Israel. (Editorial)</strong> Am. J. Med. Genet. 26: 33-36, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3812575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3812575</a>] [<a href="https://doi.org/10.1002/ajmg.1320260107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3812575">Sherman (1987)</a> found the Israel model attractive. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3812575+3957348+6593289+3812562" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#176" class="mim-tip-reference" title="Thode, A., Laing, S., Partington, M. W., Turner, G. <strong>Is there a fragile(X) negative Martin-Bell syndrome?.</strong> Am. J. Med. Genet. 30: 459-471, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3052069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3052069</a>] [<a href="https://doi.org/10.1002/ajmg.1320300149" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3052069">Thode et al. (1988)</a> were unable to corroborate the existence of a form of the Martin-Bell syndrome with no detectable fragile X. They identified 32 men with the phenotype who were fragile X negative but concluded that they did not fit the full criteria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3052069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#90" class="mim-tip-reference" title="Klauck, S. M., Munstermann, E., Bieber-Martig, B., Ruhl, D., Lisch, S., Schmotzer, G., Poustka, A., Poustka, F. <strong>Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patients.</strong> Hum. Genet. 100: 224-229, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9254854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9254854</a>] [<a href="https://doi.org/10.1007/s004390050495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9254854">Klauck et al. (1997)</a> concluded from molecular genetic studies of 141 patients from 105 simplex and 18 multiplex families that an association of autism with fragile X is nonexistent and that the Xq27.3 region is not a candidate for autism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9254854" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>For a discussion of animal models of fragile X syndrome, see <a href="/entry/309550">309550</a>.</p>
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<a href="#Bowen1978" class="mim-tip-reference" title="Bowen, P., Biederman, B., Swallow, K. A. <strong>The X-linked syndrome of macro-orchidism and mental retardation: further observations.</strong> Am. J. Med. Genet. 2: 409-414, 1978.">Bowen et al. (1978)</a>; <a href="#Cantu1978" class="mim-tip-reference" title="Cantu, J. M., Scaglia, H. E., Gonzalez-Diddi, M., Hernandez-Jauregui, P., Morato, T., Moreno, M. E., Giner, J., Alcantar, A., Herrera, D., Perez-Palacios, G. <strong>Inherited congenital normofunctional testicular hyperplasia and mental deficiency.</strong> Hum. Genet. 41: 331-339, 1978.">Cantu et al. (1978)</a>; <a href="#Carmi1984" class="mim-tip-reference" title="Carmi, R., Meryash, D. L., Wood, J., Gerald, P. S. <strong>Fragile-X syndrome ascertained by the presence of macro-orchidism in a 5-month-old infant.</strong> Pediatrics 74: 883-886, 1984.">Carmi et al. (1984)</a>; <a href="#Davies1985" class="mim-tip-reference" title="Davies, K. E., Mattei, M. G., Mattei, J. F., Veenema, H., McGlade, S., Harper, K., Tommerup, N., Nielsen, K. B., Mikkelsen, M., Beighton, P., Drayna, D., White, R., Pembrey, M. E. <strong>Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome).</strong> Hum. Genet. 70: 249-255, 1985.">Davies
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et al. (1985)</a>; <a href="#Gerald1980" class="mim-tip-reference" title="Gerald, P. S. <strong>X-linked mental retardation and an X-chromosome marker. (Editorial)</strong> New Eng. J. Med. 303: 696-697, 1980.">Gerald (1980)</a>; <a href="#Hofker1987" class="mim-tip-reference" title="Hofker, M. H., Bergen, A. A. B., Skraastad, M. I., Carpenter, N. J., Veenema, H., Connor, J. M., Bakker, E., van Ommen, G. J. B., Pearson, P. L. <strong>Efficient isolation of X chromosome-specific single copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation.</strong> Am. J. Hum. Genet. 40: 312-328, 1987.">Hofker et al. (1987)</a>; <a href="#Kinnell1982" class="mim-tip-reference" title="Kinnell, H. G. <strong>Fragile-X disorder associated with antisocial personality. (Letter)</strong> Lancet 320: 1104 only, 1982. Note: Originally Volume 2.">Kinnell (1982)</a>; <a href="#Krawczun1985" class="mim-tip-reference" title="Krawczun, M. S., Jenkins, E. C., Brown, W. T. <strong>Analysis of the fragile-X chromosome: localization and detection of the fragile site in high resolution preparations.</strong> Hum. Genet. 69: 209-211, 1985.">Krawczun et al. (1985)</a>; <a href="#Mulligan1985" class="mim-tip-reference" title="Mulligan, L. M., Phillips, M. A., Forster-Gibson, C. J., Beckett, J., Partington, M. W., Simpson, N. E., Holden, J. J. A., White, B. N. <strong>Genetic mapping of DNA segments relative to the locus for the fragile-X syndrome at Xq27.3.</strong> Am. J. Hum. Genet. 37: 463-472, 1985.">Mulligan et al. (1985)</a>; <a href="#Nolin1996" class="mim-tip-reference" title="Nolin, S. L., Lewis, F. A., III, Ye, L. L., Houck, G. E., Jr., Glicksman, A. E., Limprasert, P., Li, S. Y., Zhong, N., Ashley, A. E., Feingold, E., Sherman, S. L., Brown, W. T. <strong>Familial transmission of the FMR1 GCC repeat.</strong> Am. J. Hum. Genet. 59: 1252-1261, 1996.">Nolin et al. (1996)</a>; <a href="#Park1994" class="mim-tip-reference" title="Park, V., Howard-Peebles, P., Sherman, S., Taylor, A., Wulfsberg, E. <strong>Policy statement: American College of Medical Genetics. Fragile X syndrome: diagnostic and carrier testing.</strong> Am. J. Med. Genet. 53: 380-381, 1994.">Park et al. (1994)</a>; <a href="#Purrello1985" class="mim-tip-reference" title="Purrello, M., Alhadeff, B., Esposito, D., Szabo, P., Rocchi, M., Truett, M., Masiarz, F., Siniscalco, M. <strong>The human genes for hemophilia A and hemophilia B flank the X chromosome fragile site at Xq27.3.</strong> EMBO J. 4: 725-729, 1985.">Purrello et al. (1985)</a>; <a href="#Ruvalcaba1977" class="mim-tip-reference" title="Ruvalcaba, R. H. A., Myhre, S. A., Roosen-Runge, E. C., Beckwith, J. B. <strong>X-linked mental deficiency megalotestes syndrome.</strong> JAMA 238: 1646-1650, 1977.">Ruvalcaba et al. (1977)</a>; <a href="#Soysa1982" class="mim-tip-reference" title="Soysa, P., Senanayahe, M., Mikkelsen, M., Poulsen, H. <strong>Martin-Bell syndrome fra(X)(q28) in a Sri Lankan family.</strong> J. Ment. Defic. Res. 26: 251-257, 1982.">Soysa et al. (1982)</a>; <a href="#Sutherland1979" class="mim-tip-reference" title="Sutherland, G. R. <strong>Heritable fragile sites on human chromosomes. II. Distribution, phenotypic effects, and cytogenetics.</strong> Am. J. Hum. Genet. 31: 136-148, 1979.">Sutherland and Ashforth (1979)</a>; <a href="#Turner1980" class="mim-tip-reference" title="Turner, G., Daniel, A., Frost, M. <strong>X-linked mental retardation, macro-orchidism, and the Xq27 fragile site.</strong> J. Pediat. 96: 837-841, 1980.">Turner et al.
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(1980)</a>; <a href="#Turner1975" class="mim-tip-reference" title="Turner, G., Eastman, C., Casey, J., McLeay, A., Procopis, P., Turner, B. <strong>X-linked mental retardation associated with macro-orchidism.</strong> J. Med. Genet. 12: 367-371, 1975.">Turner et al. (1975)</a>; <a href="#Van1983" class="mim-tip-reference" title="Van Roy, B. C., De Smedt, M. C., Raes, R. A., Dumon, J. E., Leroy, J. G. <strong>Fragile X trait in a large kindred: transmission also through normal males.</strong> J. Med. Genet. 20: 286-289, 1983.">Van Roy et al. (1983)</a>; <a href="#Zoll1985" class="mim-tip-reference" title="Zoll, B., Arnemann, J., Krawczak, M., Cooper, D. N., Pescia, G., Wahli, W., Steinbach, P., Schmidtke, J. <strong>Evidence against close linkage of the loci for fraXq of Martin-Bell syndrome and for factor IX.</strong> Hum. Genet. 71: 122-126, 1985.">Zoll et al.
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(1985)</a>
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Abrams, M. T., Kaufmann, W. E., Rousseau, F., Oostra, B. A., Wolozin, B., Taylor, C. V., Lishaa, N., Morel, M.-L., Hoogeveen, A., Reiss, A. L.
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<strong>FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndrome.</strong>
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Am. J. Med. Genet. 82: 25-30, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9916838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9916838</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9916838" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19990101)82:1<25::aid-ajmg5>3.0.co;2-y" target="_blank">Full Text</a>]
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Angkustsiri, K., Wirojanan, J., Deprey, L. J., Gane, L. W., Hagerman, R. J.
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<strong>Fragile X syndrome with anxiety disorder and exceptional verbal intelligence.</strong>
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Am. J. Med. Genet. 146A: 376-379, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18203169/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18203169</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18203169" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32118" target="_blank">Full Text</a>]
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Aziz, M., Stathopulu, E., Callias, M., Taylor, C., Turk, J., Oostra, B., Willemsen, R., Patton, M.
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<strong>Clinical features of boys with fragile X premutations and intermediate alleles.</strong>
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Am. J. Med. Genet. 121B: 119-127, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12898586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12898586</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12898586" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.b.20030" target="_blank">Full Text</a>]
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Backes, M., Genc, B., Schreck, J., Doerfler, W., Lehmkuhl, G., von Gontard, A.
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<strong>Cognitive and behavioral profile of fragile X boys: correlations to molecular data.</strong>
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Am. J. Med. Genet. 95: 150-156, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11078566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11078566</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11078566" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bell, J., Haldane, J. B. S.
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[<a href="https://doi.org/10.1016/j.ajhg.2009.09.007" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/302260" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.2008.064667" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(81)92652-0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00273451" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.36423" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320400402" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320150115" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00197270" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.3109/01677068509100152" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00291403" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.28.12.837" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ejhg.2010.223" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00211011" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.57.1.127" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320170107" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320170106" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00273509" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320380241" target="_blank">Full Text</a>]
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<strong>A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation.</strong>
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[<a href="https://doi.org/10.1002/ajmg.1320210413" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0092-8674(91)90125-i" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/j.1460-2075.1985.tb03689.x" target="_blank">Full Text</a>]
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<strong>The marker Xq28 syndrome (fragile X syndrome) in a retarded man with mitral valve prolapse.</strong>
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[<a href="https://doi.org/10.1002/ajmg.1320420618" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ana.410290107" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.44.7.1317" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1365-2788.1981.tb00115.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng0792-257" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.28.12.818" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0092-8674(92)90302-s" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320260103" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM199112123252401" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.28.12.830" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00291644" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320260107" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1365-2788.1982.tb00152.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00366240" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00205167" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00295528" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320260109" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/302462" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1993.tb03873.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.252.5009.1179" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30191" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00283366" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 8/3/2015
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 5/12/2015<br>Ada Hamosh - updated : 3/28/2014<br>Cassandra L. Kniffin - updated : 9/26/2012<br>Cassandra L. Kniffin - updated : 6/7/2011<br>Cassandra L. Kniffin - updated : 1/25/2010<br>Cassandra L. Kniffin - updated : 12/30/2009<br>Cassandra L. Kniffin - updated : 10/27/2009<br>Cassandra L. Kniffin - updated : 4/6/2009<br>Cassandra L. Kniffin - updated : 1/16/2009<br>Cassandra L. Kniffin - updated : 5/19/2008<br>Marla J. F. O'Neill - updated : 4/24/2008<br>Cassandra L. Kniffin - updated : 8/2/2007
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Cassandra L. Kniffin : 11/9/2006
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carol : 03/30/2022
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carol : 02/25/2022<br>carol : 07/24/2019<br>carol : 07/23/2019<br>carol : 10/09/2017<br>joanna : 10/06/2017<br>carol : 04/17/2017<br>carol : 04/03/2017<br>alopez : 10/14/2016<br>alopez : 08/10/2015<br>mcolton : 8/4/2015<br>ckniffin : 8/3/2015<br>carol : 5/15/2015<br>mcolton : 5/13/2015<br>ckniffin : 5/12/2015<br>carol : 12/5/2014<br>alopez : 3/28/2014<br>carol : 10/24/2013<br>carol : 5/3/2013<br>joanna : 1/25/2013<br>alopez : 10/1/2012<br>ckniffin : 9/26/2012<br>wwang : 6/23/2011<br>ckniffin : 6/7/2011<br>ckniffin : 6/7/2011<br>ckniffin : 5/25/2011<br>terry : 1/14/2011<br>wwang : 11/8/2010<br>joanna : 11/1/2010<br>terry : 10/12/2010<br>wwang : 2/5/2010<br>ckniffin : 1/25/2010<br>carol : 1/8/2010<br>ckniffin : 12/30/2009<br>carol : 12/24/2009<br>ckniffin : 12/9/2009<br>alopez : 11/2/2009<br>alopez : 10/27/2009<br>ckniffin : 10/27/2009<br>carol : 9/4/2009<br>terry : 6/3/2009<br>terry : 6/3/2009<br>joanna : 5/7/2009<br>wwang : 4/10/2009<br>terry : 4/10/2009<br>terry : 4/9/2009<br>ckniffin : 4/6/2009<br>terry : 3/27/2009<br>carol : 1/21/2009<br>ckniffin : 1/16/2009<br>carol : 10/21/2008<br>ckniffin : 10/10/2008<br>wwang : 5/23/2008<br>ckniffin : 5/19/2008<br>wwang : 4/24/2008<br>terry : 4/24/2008<br>wwang : 8/20/2007<br>ckniffin : 8/2/2007<br>ckniffin : 11/28/2006<br>carol : 11/27/2006<br>ckniffin : 11/27/2006<br>carol : 11/27/2006<br>ckniffin : 11/16/2006
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<strong>#</strong> 300624
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FRAGILE X SYNDROME; FXS
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<em>Alternative titles; symbols</em>
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MARTIN-BELL SYNDROME<br />
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MARKER X SYNDROME<br />
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FRAGILE X MENTAL RETARDATION SYNDROME<br />
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MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28<br />
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X-LINKED MENTAL RETARDATION AND MACROORCHIDISM
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<strong>SNOMEDCT:</strong> 613003;
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<strong>ICD10CM:</strong> Q99.2;
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<strong>ICD9CM:</strong> 759.83;
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<strong>ORPHA:</strong> 908;
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<strong>DO:</strong> 14261;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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Inheritance
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Xq27.3
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Fragile X syndrome
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300624
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X-linked dominant
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3
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FMR1
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309550
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<p>A number sign (#) is used with this entry because fragile X syndrome (FXS) is caused by mutation in the FMR1 gene (309550). The vast majority of cases are caused by a trinucleotide (CGG)n repeat expansion (309550.0004) of greater than 200 repeats.</p><p>See also fragile X tremor/ataxia syndrome (FXTAS; 300623), which is caused by expanded FMR1 (CGG)n repeats that range in size from 55 to 200 repeats and are referred to as 'premutations.'</p>
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<p>Fragile X syndrome (FXS) is characterized by moderately to severely impaired intellectual development, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw. In most cases, the disorder is caused by the unstable expansion of a CGG repeat in the FMR1 gene and abnormal methylation, which results in suppression of FMR1 transcription and decreased protein levels in the brain (Devys et al., 1993). </p><p><strong><em>Reviews</em></strong></p><p>
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Fragile X syndrome accounts for about one-half of cases of X-linked impaired intellectual development and is the second most common cause of mental impairment after trisomy 21 (190685) (Rousseau et al., 1995). </p><p>McCabe et al. (1999) summarized the proceedings of a workshop on the fragile X syndrome held in December 1998. </p><p>Jacquemont et al. (2007) provided a review of fragile X syndrome, which they characterized as a neurodevelopmental disorder, and FXTAS, which they characterized as a neurodegenerative disorder. </p>
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<strong>Clinical Features</strong>
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<p>Lubs (1969) reported a family in which 4 males spanning 3 generations had mental retardation. Cytogenetic studies showed an unusual constriction of the long arm of the X chromosome in 10 to 33% of cells. In a follow-up report of the same family, Lubs et al. (1984) noted that affected individuals had large testes, low-set large ears, and asymmetric facial features with prominent angle of the jaw. </p><p>Cantu et al. (1976) reported 4 male sibs with congenital bilateral macroorchidism and severe mental retardation. Detailed endocrinologic evaluation, including sperm analysis, indicated normal testicular function. </p><p>Mattei et al. (1981) reported 20 patients from 15 unrelated families with fragile X syndrome. In all 19 affected male and 1 affected female proband, the fragile X site was detected in 10-61% of lymphocyte or fibroblast cells; there seemed to be no correlation between the frequency of the fragile site and clinical severity. Three sisters of probands were mildly affected, but carrier females were unaffected. Affected male individuals showed characteristic facies, including long face, high forehead, midface hypoplasia, large mouth with long upper middle incisors, thick lips, high-arched palate, large jaw with prominent chin, and large, poorly formed ears. None of 14 prepubertal males showed macroorchidism. Mental retardation was very variable, but language development was usually very delayed. Motor development was often delayed. Most showed unusual behavior, with alternating anxiety and hilarity, disordered hyperactivity, and aggressiveness. </p><p>Lubs et al. (1984) reported a large African American kindred in which 10 males had mental retardation and macroorchidism associated with the abnormal X chromosome marker. Other variable clinical features included asymmetric facies and large hands. Six females were similarly affected. Meryash et al. (1984) studied 18 affected males, aged 18 to 69 years. Of 15 subjects, 13 had macroorchidism. Average height was less than published standards. Of the 18 subjects, 17 had absolute or relative macrocephaly and 12 were dolichocephalic. </p><p>Jacobs (1982) encountered a man and Daker et al. (1981) reported 2 brothers with marXq28 and average intelligence. Similarly, Fryns and Van Den Berghe (1982) presented a kindred in which the fragile X chromosome was transmitted by at least 3 normal males. These men died at ages 68, 72, and 76 years and had a normal phenotype with normal intelligence; one was an administrator and 2 were officers. Voelckel et al. (1988) reported 3 brothers with the fragile X; only 2 were mentally retarded. Johnson et al. (1991) described a large kindred with 10 mentally retarded, fragile X-positive males, and 2 normal transmitting males. Pellissier et al. (1991) also described a kindred with 2 normal transmitter brothers. </p><p>Loesch and Hay (1988) presented the clinical findings on 113 fragile X female heterozygotes from 44 families. In 85% of a subsample of 92 adult females, the nonverbal IQ score was 85 or less. Verbal ability deficits were much less common. Typical facial characteristics, irregular teeth, and hypermobility of finger joints occurred in approximately 40% of adult females, but facial abnormalities were less common in children. Although the frequency of miscarriages was increased, a moderate increase in the number of children was found in female carriers with borderline intellectual impairment. The question of whether ovarian size is increased in females with the fragile X was addressed by Goodman et al. (1987). </p><p>A Prader-Willi-like subphenotype of the fragile X syndrome was described by de Vries et al. (1993). Clinical features included extreme obesity with a full, round face, small, broad hands and feet, and regional skin hyperpigmentation. Unlike the Prader-Willi syndrome (176270), the patients lacked the neonatal hypotonia and feeding problems during infancy followed by hyperphagia during toddlerhood. In a group of 26 patients with suspected Prader-Willi syndrome but without detectable molecular abnormalities of chromosome 15, one fragile X patient was found. General overgrowth was described in 4 fragile X patients, all of whom came from families with other affected relatives who showed the classic Martin-Bell phenotype (de Vries et al., 1995). Schrander-Stumpel et al. (1994) found the FMR1 mutation in a 3-year-old boy with unexplained extreme obesity and delayed motor and speech development. They compared the clinical features with those in 9 reported patients with the fragile X syndrome and extreme obesity. They suggested that behavioral characteristics such as hyperkinesis, autistic-like behavior, and apparent speech and language deficits may help point toward the diagnosis of the fragile X syndrome. </p><p>Limprasert et al. (2000) described unilateral macroorchidism in a boy with fragile X syndrome and discussed the possible explanations. </p><p>Backes et al. (2000) evaluated a group of boys with fragile X syndrome, ascertained by molecular genetic methods, to determine a cognitive and behavioral profile. The cognitive phenotype revealed a general intelligence corresponding to mild to moderately severe mental retardation. Psychiatric comorbidity was high, and attention deficit hyperactivity disorder (ADHD), oppositional defiant disorder, enuresis, and encopresis predominated. No significant correlation between the specific features of the phenotype and genotype were found. </p>
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<strong>Other Features</strong>
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<p>Stigmata of connective tissue abnormalities in fragile X syndrome have been reported, including finger joint hypermobility, instability of other joints (Opitz et al., 1984; Hagerman et al., 1984), and mitral valve prolapse (Pyeritz et al., 1982). Hagerman and Synhorst (1984) not only confirmed mitral valve prolapse but also demonstrated mild dilatation of the ascending aorta. </p><p>Davids et al. (1990) found that of 150 male patients with the fragile X syndrome, 75 had flat feet, 85 had excessive laxity of joints, and 10 had scoliosis. In 29 of the patients, flat feet had been evaluated or treated by an orthopedic surgeon before the diagnosis of fragile X syndrome had been made. </p><p>Langenbeck et al. (1984) found that mean corpuscular hemoglobin was increased in this disorder and asked whether this was a reflection of a defect in folate metabolism. </p><p>Rodewald et al. (1987) described ganglioglioma of the cauda equina in a 17-year-old male with familial Martin-Bell syndrome. Because of the association of neoplasms with autosomal chromosome abnormalities, Rodewald et al. (1987) suggested that this may be more than coincidence. However, they found no published reports of tumors associated with Martin-Bell syndrome. </p><p>Fryns (1993) noted periorbital hyperpigmentation and scrotal hyperpigmentation about the time of puberty.</p><p>Reiss et al. (1994) showed that the volume of the hippocampus was enlarged in fragile X patients compared to controls. Furthermore, there was an age-related increase in the volume of the hippocampus and an age-related decrease in the volume of the superior temporal gyrus. In another study, Reiss et al. (1991) showed that fragile X males had a significantly decreased size of the posterior cerebellar vermis and increased size of the fourth ventricle, when compared with age- and sex-matched groups of fragile X-negative, developmentally disabled subjects and individuals with normal IQ. Reiss et al. (1991) showed that young fragile X females had decreased size of the posterior cerebellar vermis and increased size of the fourth ventricle, when compared with normal age-, sex-, and IQ-matched females. The findings were intermediate between those of the fragile X males and the non-fragile X control groups. </p><p>Jakala et al. (1997) found that males with the full fragile X (fM) mutation showed worse cognitive performance than did males with the premutation (pM); deficits in females with the fM were qualitatively similar but less severe than in males with the fM. In a visual memory test, both fM groups were impaired. Hippocampal volumes normalized for intracranial or brain area did not significantly differ between fM and pM groups. Minor abnormalities in temporal lobe structures were found by MRI in fM subjects. </p><p>Lachiewicz et al. (2000) compared physical characteristics of young boys with fragile X with those of a control group. After adjustment for multiple comparisons, only 4 of 42 characteristics studied differed significantly in their distributions between the 2 groups. These included adverse response to touch on the skin, difficulty touching the tongue to the lips, soft skin over the dorsum of the hand, and hallucal crease. Ten other characteristics were identified that may also have predictive value for fragile X syndrome. </p><p>Gould et al. (2000) compared sleep patterns and endogenous melatonin profiles in 13 boys with fragile X to 8 age-matched normal controls. Results showed greater variability in total sleep time, difficulty in sleep maintenance, and significantly greater nocturnal melatonin production in the boys with fragile X. </p><p>Koekkoek et al. (2005) observed a severe defect in eyeblink conditioning in 6 patients with fragile X syndrome, indicating a deficit in cerebellar motor learning. Fmr1-null mice also showed deficits in classic delay eyeblink conditioning, and Fmr1-null mouse cerebellar Purkinje cells showed elongated irregular dendritic spines and enhanced long-term depression induction at the parallel fiber synapses that innervate these spines. The findings indicated that a lack of FMRP leads to cerebellar dysfunction. </p><p>Moro et al. (2006) reported 2 unrelated boys with fragile X syndrome who had periventricular heterotopia on brain MRI. One had 3 heterotopic nodules, and the other had a single nodule. The findings suggested that abnormal neuronal migration contributes to the neurologic phenotype. </p><p>Gothelf et al. (2008) compared the neuroanatomy of 84 children and adolescents with fragile X syndrome to 72 control individuals using various MR imaging methods. Although there was no difference between the groups for total brain volume, separate analysis for different brain regions showed that patients had significantly smaller cortical lobes, significantly increased size of the caudate nucleus, and decreased size of the posterior cerebellar vermis, amygdala, and superior temporal gyrus compared to controls. The combination of a large caudate with small posterior cerebellar vermis, amygdala, and superior temporal gyrus could distinguish children with fragile X syndrome from control subjects with high sensitivity and specificity. Large caudate and small posterior cerebellar vermis were associated with lower FMRP levels and more pronounced cognitive deficits and aberrant behaviors, including autistic features. Gothelf et al. (2008) suggested that abnormal development of the prefrontal-striatal pathway and the orbitofrontal-amygdala circuit characterizes a neuroanatomic phenotype associated with fragile X syndrome. </p><p>In a systematic chart review of over 500 patients with fragile X syndrome, Berry-Kravis et al. (2015) found that male patients had significantly reduced levels of total cholesterol, low density lipoprotein (LDL), and high density lipoprotein (HDL) compared to matched controls. These findings were not related to body mass index (BMI). </p><p><strong><em>Male Premutation Carriers</em></strong></p><p>
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Some boys with expanded FMR1 (CGG)n repeats that range in size from 55 to 200 repeats, referred to as 'premutations,' may exhibit similar, but possibly milder, clinical features to those with full expansions. Aziz et al. (2003) reported the clinical features of 10 boys with FMR1 CGG expansions between 45 and 198 repeats. Most had increased testicular volume and enlarged outer canthal distance, and most exhibited variable defects in social impairment, speech and language deficits, autistic features, hyperactivity, and/or developmental abnormalities. </p><p>Chonchaiya et al. (2012) examined 50 boys with FMR1 premutations for seizures and autistic features. Twenty-five boys were found to carry a premutation after direct referral for developmental issues ('probands'), and 25 additional boys were found to carry a FMR1 premutation after testing following identification of a family member with either the full mutation or a premutation ('non-probands'). The mean age of both groups was 9 years. All individuals with the premutation had increased FMR1 mRNA compared to sibs without a premutation. The probands with a premutation were significantly more likely to have features of autism spectrum disorder (68%) and seizures (28%) compared to controls (1.7% and 1% for autism spectrum disorder and seizures, respectively). Although none of the non-probands with premutations had seizures, 28% had features of autism spectrum disorder. Chonchaiya et al. (2012) concluded that boys with the FMR1 premutation should be assessed for autistic features and seizures. </p><p><strong><em>Female Premutation Carriers</em></strong></p><p>
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For a discussion of premature ovarian failure (POF) associated with premutation in the FMR1 gene, see POF1 (311360).</p><p>Rousseau et al. (1991) observed an age-dependent phenomenon: the full fragile X mutation was found preferentially on the inactive X in leukocytes in adult females but not in younger ones. This phenomenon was not observed in female carriers of a premutation, who have little phenotypic expression. Preliminary data suggested that young females who show preferential presence of a full mutation on the active X in leukocytes may be at increased risk for mental retardation. There is a known decrease with age of the expression of the fragile site. </p><p>Steyaert et al. (2003) used the Sonneville Visual Attentions Task (SVAT) method to assess reaction time on different tasks in 3 groups of female subjects: premutation carriers, full mutation carriers, and control subjects. Their findings supported earlier findings that the fragile X premutation may affect neurocognitive function, in particular aspects of attention. </p><p>Hundscheid et al. (2003) investigated whether premutation carriers have an increased risk for diseases other than POF. Among 264 women from fragile X families, they found no statistically significant differences in the occurrence of diseases known to be associated with menopause, such as cardiovascular diseases and osteoporosis; however, lower bone mineral density was observed only in premutation carriers. Once a premutation carrier experiences premature ovarian failure, she is at risk for early estrogen deprivation which, if not treated, may lead to premature decrease in bone density. </p><p>Hunter et al. (2008) found no significant differences in neuropsychologic testing scores between 63 males under the age of 50 who were carriers of intermediate (20 to 55 repeats) or premutation (55 to 199 repeats) FMR1 alleles compared to 75 male controls. A comparison of 389 female intermediate or premutation allele carriers showed an association with increasing repeat length and self-reported attention difficulties compared to 117 female controls, but there were no differences in the other neuropsychologic testing scores. </p>
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<strong>Pathogenesis</strong>
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<p>Colak et al. (2014) demonstrated that FMR1 (309550) silencing is mediated by the FMR1 mRNA. The FMR1 mRNA contains the transcribed CGG-repeat tract as part of the 5-prime untranslated region, which hybridizes to the complementary CGG-repeat portion of the FMR1 gene to form an RNA/DNA duplex. Disrupting the interaction of the mRNA with the CGG-repeat portion of the FMR1 gene prevents promoter silencing. Colak et al. (2014) concluded that their data linked trinucleotide repeat expansion to a form of RNA-directed gene silencing mediated by direct interactions of the trinucleotide repeat RNA and DNA. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cytogenetics</strong>
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</span>
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</h4>
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<p>Lubs (1969) first described an abnormality of the distal long arm of the X chromosome, Xq, in 4 mentally retarded males from a single family. A secondary constriction of the chromosome gave the appearance of large satellites. Lubs (1969) suggested that either the anomalous region itself or a closely linked recessive gene might account for X-linked mental retardation. This observation went unconfirmed for years until cytogeneticists reverted to a folate-deficient medium for tissue culture such as Lubs (1969) employed. Appearance of this secondary constriction, referred to as a 'fragile site,' was localized to Xq27-q28 and was shown to be dependent on folate deficiency in the culture medium, which leads to deficiency of thymidine monophosphate (Giraud et al., 1976; Harvey et al., 1977; Sutherland, 1977). Sutherland was in Melbourne when he made his initial observations on the fragile X. When he went to Adelaide, he upgraded his laboratory, changing from 199 to F10 culture medium to give better chromosomes for banding. The failure to find the fragile X with the new medium led to his discovery of the critical role of folate (Gerald, 1983). </p><p>At least 12 other heritable secondary constrictions ('fragile sites') on other chromosomes were proved by the early 1980s (Sutherland, 1981; Hecht et al., 1982), but none had an association with a particular phenotype. In all pedigrees of marXq28 studied, no crossing-over between the marker and mental retardation had occurred. This suggested that the marker, rather than being closely linked to a gene causing mental retardation, is a direct cytologic indicator of the genetic mutation causing this phenotype (Kaiser-McCaw et al., 1980). </p><p>Turner et al. (1978) suggested labeling the marker 'secondary constriction Xq27'; however, convention requires that 'a break suspected at an interface between two bands is identified arbitrarily by the higher of the two band numbers' (ISCN, 1978; section 2.4.4.2). Brookwell and Turner (1983) again concluded that the fragile site is in band Xq27, close to the q27-q28 interface. </p><p>Lubs (1969) and Martin et al. (1980) found that the fragile X marker was not preferentially inactivated in female heterozygotes. </p><p>In a survey of retarded females who had no obvious physical abnormalities, Turner et al. (1980) found that 7% expressed marXq28 in lymphocytes. Among obligate heterozygotes, the likelihood of detecting marXq28 correlated with severity of retardation (Howard-Peebles and Stoddard, 1980; Jacobs et al., 1980). In 2 heterozygous sisters who were slow learners, Uchida and Joyce (1982) found that the fragile X was active in approximately 70% of cells, whereas 2 heterozygous relatives of normal intelligence had the fragile X active in approximately 30 to 50% of cells. </p><p>An earlier suggestion that the proportion of cells exhibiting marXq28 decreases with increasing heterozygote age (Sutherland, 1979; Jacobs et al., 1980; Turner et al., 1980) may have been an artifact due to ascertaining fewer retarded women in older age groups (Jacobs et al., 1982). </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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<p>See review by Nussbaum and Ledbetter (1986). </p><p>In 4 of 27 large fragile X pedigrees, Fryns (1984) found strong evidence of transmission by normal males. </p><p>By analysis of multiple families with fragile X syndrome, Sherman et al. (1985) identified multiple special inheritance characteristics that differed from other X-linked traits. All mothers of affected sons were carriers; no new mutations were predicted. The risk of fragile X syndrome in offspring depended upon the sex and phenotype of the carrier parent. Daughters of nonpenetrant transmitting males were rarely affected, whereas daughters of normal carrier females had a higher chance of having affected daughters. Cognitively impaired females had a higher risk of having affected offspring. Mothers and daughters of transmitting males who were phenotypically similar had sons and daughters who expressed the gene differently. The gene seemed to be more penetrant in the offspring of daughters of transmitting males than in offspring of mothers of transmitting males. Sherman et al. (1985) suggested that a premutation exists which generates a definitive mutation only when transmitted by a female and that there is a submicroscopic rearrangement at Xq27.3 which per se causes no trouble but generates a significant genetic imbalance when involved in a recombinational event with the other X chromosome. </p><p>Pembrey et al. (1985) advanced a premutation hypothesis to explain unusual characteristics of the genetics of this disorder: transmission occurs through normal males; the heterozygous daughters of such males are never mentally retarded and have few or no fragile sites, and by contrast in the next generation, a third of heterozygous females are mentally subnormal with an average of 29% fragile sites (Sherman et al., 1985). This came to be called the Sherman paradox (Fu et al., 1991). </p><p>Winter and Pembrey (1986) analyzed linkage relationships of flanking genetic markers in daughters of normal transmitting males. There was a significant reduction in recombination in meioses giving rise to affected grandsons of normal transmitting males, as compared to families with no apparent normal transmitting males. One interpretation offered was interference related to a recombinational event leading to the full fragile X mutation. </p><p>Weaver and Sherman (1987) gave guidelines for counseling families with the Martin-Bell syndrome. Because of the peculiarities of the pedigrees, it is necessary to give different estimates for the risk among the sons and daughters of normal carrier mothers, mentally impaired carrier mothers, and normal transmitting males. Among the sons, the probability for mental impairment is 0.38, 0.5, and 0, respectively, and the chance of a son being a mentally normal carrier is 0.12, 0, and 0, respectively. Among the daughters, the risk of being a mentally impaired carrier is 0.16, 0.28, and 0, respectively, and the chance of being a mentally normal carrier is about 0.34, 0.22, and 1.0, respectively. Given a sporadic case in a male with no fragile X demonstrable in the mother, the estimates for occurrence in a brother of the proband vary from 9 to 27%, depending on the theoretical model used; the estimated risk in first cousins varies from 0.01 to 0.05. </p><p>Having excluded a mutation rate in male germ cells of the magnitude required by an exclusive mutation hypothesis to explain the high incidence of the fragile X syndrome, Vogel et al. (1990) proceeded to demonstrate an increased fitness of heterozygous females by a comparison with the reproductive performance of 'adequate' controls (mothers and grandparents of Down syndrome patients). Estimates ranged between 1.11 and 1.36. A higher incidence of dizygotic twinning suggested a biologic component for this increased fertility. On the other hand, the fragile X families had a significantly lower social status than the controls, suggesting a sociopsychologic component of their higher fertility. </p><p>Oberle et al. (1991) found that the transition from a premutation to a full mutation occurred only after passage through a female. </p><p>Yu et al. (1992) found that all individuals with the fragile X genotype had a parent with an amplified p(CCG)n repeat, indicating that few, if any, cases of fragile X syndrome are not familial. </p><p>Tabolacci et al. (2008) reported a 10-year-old boy with a normal CGG tract in the FMR1 gene and no fragile X syndrome phenotype; however, his 2 brothers were affected with fragile X syndrome due to an expanded allele. The mother carried a premutation allele of about 190 CGG. The 10-year-old unaffected boy was found to have an allele of 43 repeats with an unusual configuration detected using 2 different restriction enzymes, and the boy was not mosaic. Haplotype analysis proved that the rearranged allele originated from the maternal expanded allele, indicating contraction of the expanded CGG tract and reversion to a normal size FMR1 allele. </p><p><strong><em>Imprinting</em></strong></p><p>
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Laird (1987) proposed that abnormal chromosome imprinting is involved in inheritance of the fragile X syndrome. Two independent events are required for expression of the syndrome: the fragile X mutation and X chromosome inactivation in pre-oogonial cells. According to this model, the fragile X mutation leads to an imprint, or stable inactivation of a gene or genes at the fragile X site because the mutation prevents reactivation of a mutant fragile X chromosome that had been inactivated in a female for dosage compensation. This block to reactivation leads to mental retardation in progeny by reducing the level of products from the unreactivated region in the male's cells, and for a heterozygous female, in somatic cells in which the normal X chromosome has been inactivated. The basis of this localized block to complete reactivation of a fragile X chromosome was proposed to be late replication of DNA at the fragile site (Laird et al., 1987). </p><p>From an analysis of data on fragile X, Laird et al. (1990) concluded that 2 progenitor cells for human oogonia may be present at the time of the initial event that leads to chromosome imprinting. The estimate was based on the fact that one-half of the female's primary oocytes would, on the average, be expected to show imprinting if X-chromosome inactivation is the initial step. The population genetic predictions of the 'X-inactivation imprinting' model indicate that the fraction of carrier males who are nonpenetrant (nonimprinted) would be about 0.5 at equilibrium (Sved and Laird, 1990). Sved and Laird (1988) suggested that this predicted fraction is higher than the reported fraction of 0.2 (Sherman et al., 1985) because of an unusual ascertainment bias. </p><p>Laird (1991) explained the cytogenetic disappearance of the fragile X site in the few daughters of affected males that have been reported as a consequence of erasure of the imprint when it is passed through males. Erasure of chromosome imprinting often occurs when the imprinted chromosome is passed through the parental gender opposite from the gender that established the imprint. Reimprinting apparently can occur, however, in primary oocytes of these daughters. </p><p>Follette and Laird (1992) examined the stability of the imprinted state, defining stability as 100% penetrance of the syndrome in sons who receive an imprinted chromosome from the mother. In a preliminary estimate, they concluded that the fragile X imprint was stable in 46 of 48 female meioses, giving a tentative estimate of about 96% for the stability of the imprint. </p><p>Kirkilionis et al. (1992) presented the pedigree of a large family that illustrated dramatically the Sherman paradox and was compatible with the predictions of the Laird X-inactivation imprinting model. </p><p>Zeesman et al. (2004) reported a family in which a fragile X mosaic male, with both premutation and full mutation alleles in his peripheral blood leukocytes, had a daughter with both premutation and partially methylated full mutation alleles and a significant developmental disability. The sperm cells in the father contained only alleles in the premutation range; because the daughter had both premutation and full mutation alleles, the expansion to full mutation must have occurred postzygotically. The authors believed this to be the first report of a paternally derived full mutation expressed in a female. Steinbach and Steinbach (2005) disputed the conclusion of Zeesman et al. (2004) of paternal transmission of fragile X syndrome, and Tassone et al. (2005) provided a response. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 6 of 18 informative Sardinian pedigrees with fragile X syndrome, Filippi et al. (1983) found close linkage with G6PD (305900) and deutan colorblindness (CBD; 303800), both linked to Xq28. The maximum likelihood estimate of recombination was 6% with 90% fiducial limits between 2.5 and 19.5% and odds favoring linkage of 428:1. There was no linkage between G6PD and the Renpenning form of X-linked mental retardation (RENS1; 309500) on Xp11. </p><p>Camerino et al. (1983) found close linkage between the factor IX locus (F9; 300746) on Xq27 and fragile X syndrome in a large affected family (lod score of 4.02 at a theta of 0.05 for Xq27). In addition, they demonstrated transmission of the disorder through a phenotypically normal male. They observed no meiotic recombination out of 17 opportunities. </p><p>Szabo et al. (1984) determined that the G6PD locus is distal to the fragile X locus on Xq27.3. Although both G6PD and F9 have been linked to fragile X, F9 has been shown to segregate independently from deutan and protan (CBP; 303900) color blindness in some families. Szabo et al. (1984) concluded that the Xq27 region is a 'hotspot' for meiotic recombination; that the microscopically detectable change in fragile X syndrome is probably a minute chromosomal aberration resulting from an inaccurate recombination event; and that recombination is suppressed at the Xq27.3 region in heterozygous females. </p><p>Using intragenic RFLPs of factor IX in the study of 3 families with the fragile X syndrome, Forster-Gibson et al. (1985) found a minimum of 4 recombinations in 9 meioses. A maximum lod score of 2.75 at theta 0.20 was estimated. The authors concluded that the genetic distance between fragile X and factor IX was too great for factor IX probes to be useful for carrier detection of fragile X syndrome. </p><p>Warren et al. (1985) reported a family in which 2 brothers with fragile X mental retardation had different factor IX RFLPs, indicating that a recombinational event occurred between the 2 loci. Brown et al. (1985) found that pedigrees with nonpenetrant males showed tight linkage to factor IX, whereas the linkage was loose in those pedigrees with full penetrance in males. Giannelli et al. (1987) found that families with nonpenetrant carrier males showed tighter linkage to factor IX than did the others and suggested the existence of 2 fragile X loci. In a multilocus linkage analysis of 147 families, Brown et al. (1988) found significant variation in the recombination distance between F9 and FRAXA. Heterogeneity testing showed that 20% of the families had tight F9-FRAXA linkage, whereas 80% demonstrated loose linkage, with an average recombination distance of 0.35. On average, the multipoint distances found were DXS51-F9, 6.9%; F9-FRAXA, 22.4%; FRAXA-DXS52, 12.7%; and DXS52-DXS15, 2.2%. In 14 families with fragile X and 9 normal pedigrees from the CEPH collection, Thibodeau et al. (1988) also observed genetic heterogeneity between the fragile X locus and the F9 locus, with recombination frequencies of DXS51-F9, 0%; F9-DXS52, 45%; DXS51-FRAXA, 15%; F9-FRAXA, 18%; DXS98-FRAXA, 36%; and DXS52-FRAXA, 15%. The authors proposed the relative order for the 5 loci as DXS51, F9, DXS98--FRAXA--DXS52. </p><p>Using a 275-kb fragment of human DNA isolated in a yeast artificial chromosome (YAC) and thought to span the fragile site, Yu et al. (1991) derived 2 probes that spanned the fragile site as demonstrated by in situ hybridization. Mapping delineated further the sequences that appeared to span the fragile site to about 15 kb. A 5-kb EcoRI fragment was found to contain fragile site breakpoints. When this fragment was used as a probe on the chromosomal DNA of normal and fragile X individuals, alterations in the mobility of the sequences were found only in fragile X DNA. These sequences were of an increased size and varied within families, indicating that the region was unstable. The results were consistent with those of Oberle et al. (1991). </p><p>Richards et al. (1991) used microsatellite markers to position the fragile X locus within the multipoint map of the X chromosome to a position 3.7 cM distal to DXS297 and 1.2 cM proximal to DXS296. They described 2 polymorphic microsatellite AC repeat markers, FRAXAC1 and FRAXAC2, physically located within 10 kb and on either side of the (CCG)n repeat responsible for the fragile site. The 2 markers showed strong linkage disequilibrium and have heterozygosity of 44 and 71%, respectively. No recombination was observed either between these markers in 40 CEPH pedigrees or with FMR1 in affected pedigrees. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Diagnosis</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Jacky and Dill (1980) detected the fragile X chromosome in cultured lymphocytes and fibroblasts from affected patients. Glover (1981), Tommerup et al. (1981), and Jacobs et al. (1982) demonstrated that pharmacologic inhibition of thymidylate synthetase (TYMS; 188350) was effective in inducing the fragile X marker in cell cultures. Snyder et al. (1984) showed that culture conditions that promote expression of the fragile X site do not affect expression of lymphocyte HPRT but do cause a marked reduction in G6PD activity. </p><p>Sutherland (1989) indicated that there is a fragile site (FRAXD) located at Xq27.2, separate from the classic FRAXA site at Xq27.3 which is responsible for mental retardation. The FRAXD is inducible by high doses of aphidicolin. Ramos et al. (1992) concluded that the fragile site at Xq27.2 can be demonstrated in normal persons under the conditions of thymidylate stress routinely used for cytogenetic diagnosis of the fragile X syndrome. Furthermore, this fragile site is present at low levels (1-2%) in all persons who express it and, therefore, its expression is unlikely to cause false-positive diagnoses of the syndrome. Lesions at Xq26 are also seen at low levels in lymphocytes of persons without the syndrome. </p><p>Griffiths and Strachan (1991) described a technique, based on a culture system reported by Wheater and Roberts (1987), that enabled the cytogeneticist to do fra(X) screening and prometaphase banding on the same specimen. </p><p>Using restriction enzymes, Oberle et al. (1991) detected abnormally large-sized fragments and abnormal methylation around the fragile X site in affected males and carrier females. Some affected males appeared to be mosaics, with coexistence of a large methylated fragment and a smaller normal unmethylated fragment. Rare apparent false negatives were considered to be the result of genetic heterogeneity or misdiagnosis. </p><p>Rousseau et al. (1991) concluded that direct DNA diagnosis of the fragile X syndrome is efficient and reliable. Southern analysis of EcoRI and EagI digests of DNA distinguished clearly in a single test between the normal genotype, the premutation, and the full mutation. All 103 affected males and 31 of 59 females with full mutations had mental retardation. Fifteen percent of those with full mutations had some cells carrying only the premutation. All of the mothers of affected children were carriers of either a premutation or a full mutation. Because of the certainty of DNA diagnosis, this method replaced cytogenetic detection of the fragile X chromosome, which carries a rate of misdiagnosis of about 5% for both false positives and the more frequent false negative conclusion, and diagnosis by the linkage principle, which gives a probabilistic result rather than an absolute one. Jacobs (1991), however, stated that the cytogenetic marker still had an honorable role to play in the diagnosis of fragile X syndrome. It was reliable for virtually all males and for the majority of affected females and was the most efficient and cost effective methodology at that time. </p><p>Mandel et al. (1992) reported on the Fifth International Workshop on the Fragile X and X-Linked Mental Retardation held near Strasbourg, France, in August 1991. In addition to their summary, over 50 papers on the fragile X syndrome and 18 papers related to other X-linked mental retardation syndromes presented at the conference were published in the American Journal of Medical Genetics. Mandel et al. (1992) reviewed the hypothesis of Patricia Jacobs which postulated 3 mutations: a change from a normal insert (N) to a small insert that is at low risk of converting to a large insert (S); a change from that type of small insert to a small insert at high risk of converting to a large insert (S*); and a change from the high risk small insert to a large insert (L) which is associated with clinical abnormality. Cytogenetic screening of the mentally handicapped for the fra(X) was equivalent to testing for individuals with a large insert (L) as there was no evidence that a small insert (S) has a deleterious effect on the phenotype. The consensus was that in diagnostic laboratories cytogenetics is still the method of choice, with subsequent molecular investigation of those patients found or suspected of being fra(X) positive; no consensus was reached on the relative merits of cytogenetics and molecular techniques for screening. Mulley et al. (1992) reported a high success rate with the direct molecular diagnosis of fragile X using the pfxa3 probe which detects amplification of an unstable DNA element consisting of variable length CCG repeats. </p><p>Snow et al. (1993) found that PCR followed by DNA sequencing of the FMR1 gene allowed the most accurate determination of CGG repeat numbers up to approximately 130 repeats. Turner et al. (1996) suggested that the clinical definition of fragile X syndrome be redefined in males as a mental handicap associated with absolute or relative deficiency of the FMR1 protein. In the absence of a readily available protein test, analysis of the trinucleotide repeat size has been used for diagnosis. An increase in the size of the trinucleotide repeat over a particular value initiates methylation of the FMR gene promoter site and suppression of FMR1 gene transcription. Testing can identify individuals who lack FMR1 protein as a consequence of deletion of the gene but will not identify those individuals whose FMR1 protein is defective through mutation. </p><p>Willemsen et al. (1995, 1997) developed a diagnostic method using mouse monoclonal antibodies against the FMR1 protein that allowed for detection of the fragile X syndrome in a blood smear. This noninvasive test required only 1 or 2 drops of blood and could be used to screen large groups of mentally retarded persons and neonates. Willemsen et al. (1999) modified the antibody test for application to hair roots. Mentally retarded female patients with a full mutation showed FMR protein expression in only some of their hair roots (less than 55%), and no overlap with normal female controls was observed. </p><p>Storm et al. (1998) noted that incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome and suggested that HindIII digest be used instead of EcoRI to identify premutation vs normal fragment length in genomic DNA. </p><p>Abrams et al. (1999) examined olfactory neuroblasts from 2 mentally retarded, autistic brothers with fragile X expansion mutations in leukocytes. Olfactory neurons were chosen for study because they are accessible neurons that undergo regeneration and are closely linked to the brain. In both subjects, the genotype in neuroblasts was highly, but not perfectly, consistent with that observed in leukocytes. The results suggested that FMR1 mutation patterns in leukocytes are a good, albeit potentially fallible, reflection of such patterns in the brain and demonstrated the feasibility of using olfactory neuron samples to evaluate FMR1 mutations in humans in vivo. </p><p>Stoll (2001) presented 11 children under the age of 8 years and noted the difficulties in diagnosis of fragile X syndrome at this age. The author emphasized the importance of fragile X DNA testing in all children with mental retardation, autism, or significant developmental delay without a clear etiology. </p><p>MacKenzie et al. (2006) reported a 46-year-old male patient with a typical fragile X syndrome phenotype who was found to be a somatic mosaic for the FMR1 repeat expansion. Analysis of peripheral blood detected a premutation allele of 58 CGG repeats, whereas skin fibroblasts yielded a full mutation allele of 500 CGG repeats. The authors suggested that the proband may have inherited a full mutation that has undergone selective contraction, given his age at molecular diagnosis. MacKenzie et al. (2006) concluded that testing of ectodermally derived tissues may provide improved diagnosis for fragile X syndrome. </p><p>Coffee et al. (2009) reported the development of an assay for newborn screening of fragile X syndrome. The assay showed 100% specificity and 100% sensitivity for detecting FMR1 methylation on dried blood spots, thus successfully distinguishing normal males from those with the full mutation. The assay could also detect excess FMR1 methylation in 82% of females with full mutations, although the methylation status did not correlate with intellectual disability. With amelogenin PCR used for detecting the presence of a Y chromosome, this assay also detected males with Klinefelter syndrome (47,XXY). Among 64 males with FMR1 methylation, 7 were found to have full-mutation fragile X syndrome and 57 had Klinefelter syndrome. In their study of 36,124 newborn males, Coffee et al. (2009) estimated the incidence of fragile X syndrome to be 1 in 5,161 newborn males, and that of Klinefelter syndrome to be 1 in 633. </p><p><strong><em>Carrier Females</em></strong></p><p>
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Toledano-Alhadef et al. (2001) tested 14,334 Israeli women of childbearing age for fragile X carrier status between 1992 and 2000. These women were either preconceptional or pregnant and had no family history of mental retardation. They identified 207 carriers of an allele with more than 50 repeats, representing a prevalence of 1:69. There were 127 carriers with more than 54 repeats, representing a prevalence of 1:113. Three asymptomatic women carried the full-mutation allele. Among the premutation and full-mutation carriers, 177 prenatal diagnoses were performed. Expansion occurred in 30 fetuses, 5 of which had an expansion to the full mutation. The authors recommended wide-scale screening to identify female carriers. </p><p>In 34 female full mutation carriers and unaffected female control relatives, Willemsen et al. (2003) found a correlation between cognitive function and the percentage of hair roots that expressed the FMRP protein. Cognitive function in the female carriers was much more strongly determined by the absence of FMRP than by genetic background. </p><p>Angkustsiri et al. (2008) described a 23-year-old woman with the full fragile X mutation who had no dysmorphic features and above-average intelligence combined with significant impairments due to anxiety and learning disability. Her brother had fragile X syndrome, her mother was a premutation carrier, and her maternal grandfather was the first patient diagnosed with the fragile X tremor/ataxia syndrome (FXTAS; 300623 and Hagerman et al., 2001). Angkustsiri et al. (2008) concluded that women with fragile X syndrome can present primarily with learning and emotional problems and that clinicians should consider the diagnosis in these women regardless of their IQ, particularly if there are physical features or a family history consistent with fragile X syndrome. </p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
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Jenkins et al. (1982) detected the fragile X marker in cultured amniocytes, enabling successful prenatal diagnosis. Jenkins et al. (1984) described prenatal diagnosis of 3 cases of fragile X syndrome based on cytogenetic analysis of cultured amniocytes. The testes of 2 positive fetuses appeared large for gestational age. </p><p>Sutherland et al. (1991) reported prenatal diagnosis of fragile X syndrome in a male fetus using direct analysis of an unstable sequence in DNA obtained by chorionic villus sampling. They used a probe referred to as pfxa3 to detect an abnormal 2.3-kb band in the fetus. Normal carrier males usually have a fragile X band that is between 1.1 and 1.6 kb. Yamauchi et al. (1993) used the diagnostic DNA probe pPCRfx1 to confirm that an at-risk fetus was a heterozygous female carrier. </p><p>Dreesen et al. (1995) approached preimplantation testing for the fragile X syndrome by genotyping the polymorphic DXS548 AC-repeat locus, which is closely linked to the FMR1 gene, in unfertilized oocytes and extruded polar bodies. They concluded that a PCR procedure could be performed within 16 hours after blastomere biopsy and that for carrier females heterozygous at the DXS548 locus, preimplantation testing with DXS548 is a possible alternative to prenatal testing. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p><strong><em>Nomenclature of Expanded Trinucleotide Repeats</em></strong></p><p>
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The repeat involved in the fragile X syndrome is variously referred to here as (CGG)n or (CCG)n. The identical repeat found in the cloned FRAXE gene (309548) was referred to as (GCC)n by Knight et al. (1993). There are only 10 different trinucleotide repeats, but each can be written in a number of ways. Sutherland (1993) favored the convention that lists the motif in alphabetical order in the 5-prime to 3-prime direction. Consistent with this, he uses the (CCG)n designation. He preferred, furthermore, the designation (AGC)n for the other clinically significant dinucleotide repeat found in myotonic dystrophy (DM1; 160900), Huntington disease (143100), Kennedy disease (SMAX1; 313200), and SCA1 (164400); (CAG)n is the designation most often used. Sutherland (1993) suggested that the same convention can apply to dinucleotides. He wrote: 'It must be very confusing for newcomers to the literature to find (AC)n, (CA)n, (GT)n, and (TG)n repeats, when the cognoscenti know these are synonyms.' </p><p><strong><em>Fragile X Syndrome</em></strong></p><p>
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Kremer et al. (1991) demonstrated that the presence of an unstable expanded trinucleotide repeat sequence, designated p(CGG)n (309550.0004), in the FMR1 gene is the basis of fragile X syndrome. The authors showed that normal X chromosomes have about 40 +/- 25 copies of p(CCG)n and that within these limits the sequence is a stable DNA polymorphism. The fragile X genotype was characterized by an increased amount of unstable DNA that maps to the repeat. </p><p>Pieretti et al. (1991) found absence of FMR1 mRNA in lymphoblastoid cell lines and leukocytes derived from patients with fragile X syndrome, whereas it was normally expressed in normal controls and carriers. </p><p>Devys et al. (1992) noted that there are 2 main types of mutations involved in fragile X syndrome. Premutations, which do not cause mental retardation, are characterized by an elongation of 70 to 500 bp with little or no somatic heterogeneity and without abnormal methylation. Full mutations are associated with high risk of mental retardation and consist of a 600 bp or more amplification, often with extensive somatic heterogeneity and abnormal DNA methylation. </p><p>De Boulle et al. (1993) identified a missense mutation in the FMR1 gene (I304N; 309550.0001) in a patient with a severe form of fragile X mental retardation, confirming that abnormality of the FMR1 gene underlies fragile X syndrome. </p><p>Russo et al. (1998) described a female with borderline cognitive impairment who was compound heterozygous for a full FMR1 mutation and a premutation. The parents came from the same small village in Italy. The proband's mother and aunt reported that they had undergone premature ovarian failure at 35 years of age (see POF1, 311360). Mila et al. (1996) reported a compound heterozygous Spanish female. Linden et al. (1999) reported a 15-year-old girl with fragile X syndrome who was compound heterozygous for a full expansion (363 repeats) and a premutation (103 repeats) in the FMR1 gene. Both parents carried premutations (98 repeats in the father, 146 repeats in the mother). Cognitively, this woman was functioning in the mid range of involvement for fragile X females. She attended regular classes and received supplemental assistance for her learning disabilities. She experienced behavioral characteristics typical of females with fragile X syndrome including severe shyness, anxiety, panic episodes, mood swings, and attention deficits. She responded well to appropriate treatment including fluoxetine for anxiety, methylphenidate for attention problems, and educational therapy. </p><p>Gronskov et al. (2011) identified a truncating mutation in the FMR1 gene (S27X; 309550.0005) in a man with classic features of fragile X syndrome. He had mental retardation, early-onset seizures, poor language development, and autistic tendencies. Dysmorphic features included an elongated face, high and broad forehead, low-set large ears, prognathia, and enlarged testes. Neurologic examination showed hypotonia and hypermobility, with hyperextensible joints. Western blot analysis of patient lymphoblastoid cells showed no FMRP protein expression. His mother, who also carried the mutation, had mild to moderate intellectual disability, hypermotor behavior, and automatisms. Gronskov et al. (2011) noted that the frequency of point mutations in the FMR1 gene is unknown, since most screening techniques look for the expanded repeat. </p><p><strong><em>Reviews</em></strong></p><p>
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D'Hulst and Kooy (2009) provided a review of fragile X syndrome, with a focus on molecular genetics. </p>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Jacobs (1982) indicated that a reasonable estimate of frequency of fragile X syndrome is 0.5 per 1,000 males. Although many of the cases first ascertained were of northern European descent, affected males have since been found in most ethnic groups.</p><p>In Sweden, Blomquist et al. (1982) found that 6 of 96 Swedish boys with IQ less than 50 born between 1959 and 1970 had fraXq28. Blomquist et al. (1985) found the fragile X in 13 (16%) of 83 boys but none of 129 girls with infantile autism. </p><p>Webb et al. (1986) performed a population study of school children in the city of Coventry, England, and, using cytogenetic studies, gave an overall prevalence for fragile X syndrome in males and females of 1:952. Morton et al. (1997) reevaluated the 29 children diagnosed with fragile X syndrome by Webb et al. (1986) and confirmed the presence of the FMR1 gene expansion in only 7 of the children, giving a revised prevalence of 1:2,720 to 1:5,714, depending on whether the 4 children lost to follow-up are included. On the basis of molecular genetic analysis, Turner et al. (1996) reported that a prevalence of 1:4,000 or 2.4:10,000 was more realistic than the 1:1,000 reported by Webb et al. (1986). </p><p>Filippi et al. (1991) reported findings in a very large Sardinian kindred spanning 6 generations and including 13 patients with Martin-Bell syndrome, several instances of normal transmitting males or females, and the G6PD Mediterranean (305900.0006) mutant segregating in some of its branches. All the fragile X patients and the 15 obligate heterozygous women could be traced through their X-chromosome lineage to a woman in the first generation who must have been heterozygous for a silent premutation at the fragile X locus. Filippi et al. (1991) concluded that this premutation had been converted into a full mutation at least 9 times during the gametogenesis of this ancestor's X-related descendants, of whom 4 were males. </p><p>Morton and Macpherson (1992) proposed a model in which the fragile X mutation is postulated to occur as a multistep process. This attractive model provides a framework in which the seemingly contradictory observations of a mutation old enough to establish a founder effect and an apparently high new mutation rate are united. Morton and Macpherson (1992) suggested that 4 types of alleles occur in the fragile X syndrome (see table in the review by Chakravarti, 1992). The 4 types of alleles were as follows: N = normal, with a frequency of 0.9751; S = stable insert with a frequency of 0.0225 and a mean age of about 90 generations; Z = unstable insert with a frequency of 0.0014 and a mean age of 2 generations; and L = mutation with a frequency of 0.0010 and a mean age of 1.4 generations. Thus myotonic dystrophy (DM1; 160900) and fragile X appear to share both the phenomenon of anticipation and the phenomenon of founder effect. </p><p>Richards and Sutherland (1992) referred to the amplification mutation involving (CCG)n in the fragile X syndrome and the trinucleotide repeats in myotonic dystrophy and Kennedy disease as 'dynamic mutations.' In studies using 2 polymorphic CA repeats located close to the 'mutation target' for the fragile X syndrome, Oudet et al. (1993) observed significant differences in allelic and haplotypic distributions between normal and fragile X chromosomes, indicating that a limited number of primary events may have been at the origin of most present-day fragile X chromosomes in Caucasian populations. They proposed a putative scheme with 6 founder chromosomes from which most of the observed fragile X-linked haplotypes can be derived directly or by a single event at one of the marker loci. Such founder chromosomes may have carried a number of CGG repeats in an upper-normal range, from which recurrent multistep expansion mutations have arisen. The diversity of haplotypes at the fragile X locus may reflect genetic heterogeneity but may also be explained by mutations in the markers themselves. </p><p>Richards et al. (1992) presented haplotype evidence for a founder effect in the fragile X mutation. They found clear evidence of linkage disequilibrium between fragile X and 2 polymorphic microsatellite markers that flank FMR1 and are within 10 kb of the (CCG)n repeat. These markers have 5 to 7 alleles, show no recombination with each other, and define 15 haplotypes. In an analysis of 134 fragile X chromosomes from unrelated affected individuals in Australia and the United States, they found that 58% of the fragile X mutations occurred on the 3 backgrounds that account for 18% of normal chromosomes. Correspondingly, the single most common normal haplotype, which has a frequency of 50%, carries only 18% of fragile X mutations. The data argued for the expected occurrence of multiple, independent mutations, but also indicated the unexpectedly long history of some of these fragile X mutations. Using the FRAXAC1 polymorphic marker in the study of a large number of patients, Hirst et al. (1993) found its allele distribution to be strikingly different on fragile X chromosomes, confirming earlier observations and giving further support to the suggestion of a fragile X founder effect (Richards et al., 1992). </p><p>Haataja et al. (1994) presented evidence for a founder effect of fragile X syndrome in Finland arising from a common ancestor in the 16th century. </p><p>In a study of 122 Israeli families affected with the fragile X syndrome diagnosed in 7 genetic centers, Dar et al. (1995) found that Tunisian Jews, who comprise only 4% of the general population, accounted for 21% of the fragile X families, suggesting founder effect. </p><p>Rousseau et al. (1995) reported a population frequency of 1 in 259 for female carriers of an allele of more than 54 repeats. </p><p>The CGG repeat, which is normally polymorphic in length, is frequently interrupted by AGG triplets, which are believed to stabilize the repeat. The absence of AGG triplets, leading to long tracts of perfect CGG repeats, may give rise to predisposed alleles. Kunst et al. (1996) determined the repeat length of 345 chromosomes from 9 populations from various parts of the world and used automated DNA sequencing to assess 14 of them. They found that the FMR1 alleles were very heterogeneous, although the level of variation correlated with the age and/or genetic history of a particular population. Native American alleles, interrupted by 3 AGG repeats, exhibited marked stability over 7,000 years. However, in older African populations, parsimony analysis predicted the occasional loss of an AGG, leading to more perfect CGG repeats. </p><p>Studies of (CGG)n repeat structures of selected human populations showed a high degree of conservation of the canonical (CGG)9AGG interruption pattern in different populations and confirmed the proposed stabilizing effect of AGG interruptions (Eichler and Nelson, 1996). In the native population of Greenland, Larsen et al. (1999) found a narrow distribution of (CGG)n allele sizes, similar to that reported for Asian populations. DNA sequencing of alleles with 36 CGG repeats revealed an AGG(CGG)6 insertion previously reported exclusively in Asian populations and a high frequency of 2 other sequence patterns. The data confirmed the Asian origin of the Greenlandic (Eskimo) population and indicated that some (CGG)n alleles have remained stable for 15,000 to 30,000 years, since the population of the New World arrived from Asia via the Bering Strait. The findings added new evidence for the 'out of Asia' theory of the colonization of the New World (Cavalli-Sforza et al., 1994). Studies in Native Americans (Amerinds) had not shown the (CGG)6AGG insertion. This may be due to the relatively small sample sizes in these studies, but may also be caused either by a later migration of the Eskimo population compared with the Amerind and the Na-dene populations (as proposed in the '3 migrations theory' Greenberg et al., 1986 or by genetic bottlenecks during the population of the New World (Wallace and Torroni, 1992)). </p><p>Goldman et al. (1997) reported that the prevalence of FRAXA syndrome among institutionalized South African blacks was similar to that reported in the literature for institutionalized white populations. Crawford et al. (1999) found that the prevalence of the FRAXA full mutation in African American males was approximately the same as that in Caucasian American males. </p><p>Beresford et al. (2000) reported molecular analysis of 177 males with mental handicap and 1,226 random alleles from Guthrie newborn screening samples in Nova Scotia. No FMR1 premutations or mutations were found. Beresford et al. (2000) also noted that only 1 case of fragile X had been reported in this region since 1980, in an individual who had moved from elsewhere in Canada. Beresford et al. (2000) concluded that the fragile X syndrome was rare in Nova Scotia, a phenomenon they found remarkable given the high prevalence of other rare heritable disorders in the region and that the population has tens of thousands of founders from multiple founding groups. </p><p>Larsen et al. (2001) analyzed the AGG interspersion pattern of the (CGG)n repeat and the haplotype distribution of 2 closely located microsatellite markers in 3 circumarctic populations: Norwegians, Saami, and Nenets. The data indicated the existence of chromosomes of Asian origin in the Saami and Nenets populations. Haplotype analysis of Norwegian fragile X males compared to other populations showed that the fragile X founder haplotypes may vary between populations and that the CGG expansion associated with fragile X syndrome may originate from subpopulations of unstable alleles within the normal population. </p><p>Several population-based studies in Caucasians of mostly northern European descent established that the prevalence of the fragile X syndrome is probably between 1 in 6,000 and 1 in 4,000 males. Crawford et al. (2002) presented the final results of a 4-year study in the metropolitan area of Atlanta, Georgia, establishing the prevalence of the fragile X syndrome and the frequency of CGG repeat variants in a large Caucasian and African American population. They found that one-quarter to one-third of the children identified with the fragile X syndrome attending Atlanta public schools were not diagnosed before the age of 10 years. Also, a revised prevalence for the syndrome revealed a higher point estimate for African American males (1/2,545; 95% CI 1/5,208-1/1,289) than reported previously, although confidence intervals included the prevalence estimated for Caucasians from this and other studies (1/3,717; 95% CI 1/7,692-1/1,869). </p><p>Mingroni-Netto et al. (2002) studied the distribution of CGG repeats and DXS548/FRAXAC1 haplotypes in normal South American populations of different ethnic backgrounds. They found that some rare alleles that seem nearly absent in Europe occurred in higher frequencies among African Brazilians, which suggested a general trend for higher genetic diversity among Africans. Thus, the rarer alleles could be African in origin and would have been lost or possibly not present in the groups that gave rise to Europeans. </p><p>Dombrowski et al. (2002) screened 10,572 independent French Canadian males for premutation-size FMR1 alleles and identified 13 who carried alleles of more than 54 repeats, which corresponded to a population frequency of 1 in 813. Haplotype analysis of the 13 identified male carriers revealed that the prevalence of the major fragile X mutation-associated haplotype was increased among FMR1 alleles of 40 to 54 repeats. Although sequencing of highly unstable premutation alleles from fragile X families revealed only pure CGG tracts, 48 of 49 males from the general population with 40 or more triplets had 1 to 2 AGG interruptions. This suggests that the loss of an AGG interruption in the triplet repeat array may not be necessary for expansion of normal alleles of 29 to 30 triplets to intermediate size. The authors concluded that loss of AGG interruptions appears to be a late event that may lead to greatly increased instability and may be related to the haplotype background of specific FMR1 alleles. </p><p>Biancalana et al. (2004) reported the molecular diagnosis of fragile X syndrome in France during the 5-year period from 1997 to 2001: 477 families were diagnosed with fragile X syndrome, representing 2.8% of tested male probands and 1% of tested female probands. </p><p>Fatima et al. (2014) found the FMR1 full mutation in 15 (6.5%) of 229 Pakistani boys and in 1 (0.9%) of 104 girls with intellectual disability. The overall frequency among intellectually disabled children in this population was 4.8%. </p>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The X-linked mental retardation reported by Martin and Bell (1943) is the same as the fragile X syndrome. Opitz et al. (1984) referred to this disorder as the 'Martin-Bell syndrome' on the assumption that the family reported from the Queen Square Hospital in London by J. Purdon Martin and Julia Bell (Martin and Bell, 1943) had that disorder. Although macroorchidism was not mentioned by Martin and Bell (1943), one of the patients was described as having a 'big face and jaw;' furthermore, at least 9 of the affected males were maternal grandsons of 2 unaffected brothers. All but 1 of the mothers of affected males were daughters of these 2 brothers, the other being their sister. Martin and Bell (1943) hypothesized that some controlling factor caused suppression of the disease in the 2 grandfathers without affecting their liability to transmit it. For a superb biography of Julia Bell (1879-1979), see Bundey (1996). </p><p>Richards et al. (1981) followed up on the Martin-Bell kindred, demonstrating that it was indeed the fragile X syndrome. The original index patient was then aged 56. All 4 affected males who had adequate karyotyping showed the fragile X syndrome in 17 to 50% of their cells. The other major contribution of Julia Bell was in the defining of many hereditary disorders, such as the forms of brachydactyly, on the basis of massive collections of pedigrees in the famous Treasury of Human Inheritance. She also collaborated with J. B. S. Haldane in the first estimation of linkage in the human, that of colorblindness and hemophilia (Bell and Haldane, 1937). </p><p>According to Opitz and Sutherland (1984), Escalante, a graduate student with Frota-Pessoa in Sao Paulo, Brazil, and Drs. Bryan and Gillian Turner in Sydney, Australia, independently noted the association of macroorchidism with X-linked mental retardation in the late 1960s. Escalante et al. (1971) published their findings (which they had reported in 1969 at the Warsaw Congress of the International Association for the Scientific Study of Mental Deficiency) in the Journal de Genetique Humaine. While visiting the Drs. Turner in Sydney, McKusick (1970) examined several patients with mental retardation and macroorchidism. </p><p>Antibiotics such as Bactrim (Roche) and Septra (Burroughs Wellcome) contain trimethoprim, which can lower folate levels by inhibition of dihydrofolate reductase. Hecht and Glover (1983) urged avoidance of trimethoprim and other folate antagonists in pregnant women who are at risk for having a child with the fragile X syndrome. Lejeune et al. (1982) described severe clinical regression of psychomotor development in a 2-year-old boy with the fragile X syndrome while on trimethoprim. </p><p>Froster-Iskenius et al. (1984) raised the possibility of an autosomal suppressor system to account for the transmission of the marker X syndrome by unaffected males. Steinbach (1986) and Israel (1987) also postulated an autosomal suppressor gene or modifier to explain the occurrence of mentally normal males who transmit the fragile X gene to their daughters and the fact that while about one-third of all female carriers have mental impairment, mothers and daughters of these mentally normal transmitting males are rarely, if ever, mentally impaired. Steinbach (1986) designated the modifier genes as D and N, the equivalent of Israel's s and S, respectively. Essentially the models were identical: normal male transmitters of fragile X were suggested to be homozygous for S (or N), while normal female transmitters are either homozygous for S or heterozygous, Ss (ND). Sherman (1987) found the Israel model attractive. </p><p>Thode et al. (1988) were unable to corroborate the existence of a form of the Martin-Bell syndrome with no detectable fragile X. They identified 32 men with the phenotype who were fragile X negative but concluded that they did not fit the full criteria. </p><p>Klauck et al. (1997) concluded from molecular genetic studies of 141 patients from 105 simplex and 18 multiplex families that an association of autism with fragile X is nonexistent and that the Xq27.3 region is not a candidate for autism. </p>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>For a discussion of animal models of fragile X syndrome, see 309550.</p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Bowen et al. (1978); Cantu et al. (1978); Carmi et al. (1984); Davies
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et al. (1985); Gerald (1980); Hofker et al. (1987); Kinnell (1982);
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Krawczun et al. (1985); Mulligan et al. (1985); Nolin et al. (1996);
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Park et al. (1994); Purrello et al. (1985); Ruvalcaba et al. (1977);
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Soysa et al. (1982); Sutherland and Ashforth (1979); Turner et al.
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(1980); Turner et al. (1975); Van Roy et al. (1983); Zoll et al.
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(1985)
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p />
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</div>
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<ol>
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Abrams, M. T., Kaufmann, W. E., Rousseau, F., Oostra, B. A., Wolozin, B., Taylor, C. V., Lishaa, N., Morel, M.-L., Hoogeveen, A., Reiss, A. L.
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<strong>FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndrome.</strong>
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Am. J. Med. Genet. 82: 25-30, 1999.
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[PubMed: 9916838]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(19990101)82:1<25::aid-ajmg5>3.0.co;2-y]
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Angkustsiri, K., Wirojanan, J., Deprey, L. J., Gane, L. W., Hagerman, R. J.
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<strong>Fragile X syndrome with anxiety disorder and exceptional verbal intelligence.</strong>
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Am. J. Med. Genet. 146A: 376-379, 2008.
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[PubMed: 18203169]
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[Full Text: https://doi.org/10.1002/ajmg.a.32118]
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Aziz, M., Stathopulu, E., Callias, M., Taylor, C., Turk, J., Oostra, B., Willemsen, R., Patton, M.
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<strong>Clinical features of boys with fragile X premutations and intermediate alleles.</strong>
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Am. J. Med. Genet. 121B: 119-127, 2003.
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[PubMed: 12898586]
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[Full Text: https://doi.org/10.1002/ajmg.b.20030]
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<p class="mim-text-font">
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Backes, M., Genc, B., Schreck, J., Doerfler, W., Lehmkuhl, G., von Gontard, A.
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<strong>Cognitive and behavioral profile of fragile X boys: correlations to molecular data.</strong>
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Am. J. Med. Genet. 95: 150-156, 2000.
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[PubMed: 11078566]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bell, J., Haldane, J. B. S.
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<strong>The linkage between the genes for colour-blindness and haemophilia in man.</strong>
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Proc. Roy. Soc. London 123B: 119-150, 1937.
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<p class="mim-text-font">
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Beresford, R. G., Tatlidil, C., Riddell, D. C., Welch, J. P., Ludman, M. D., Neumann, P. E., Greer, W. L.
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<strong>Absence of fragile X syndrome in Nova Scotia.</strong>
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J. Med. Genet. 37: 77-79, 2000.
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[PubMed: 10691418]
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[Full Text: https://doi.org/10.1136/jmg.37.1.77]
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<p class="mim-text-font">
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Berry-Kravis, E., Levin, R., Shah, H., Mathur, S., Darnell, J. C., Ouyang, B.
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<strong>Cholesterol levels in fragile X syndrome.</strong>
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Am. J. Med. Genet. 167A: 379-384, 2015.
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[PubMed: 25424470]
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[Full Text: https://doi.org/10.1002/ajmg.a.36850]
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<p class="mim-text-font">
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Biancalana, V., Beldjord, C., Taillandier, A., Szpiro-Tapia, S., Cusin, V., Gerson, F., Philippe, C., Mandel, J.-L., French National Working Group on Fragile X Syndrome.
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<strong>Five years of molecular diagnosis of fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France.</strong>
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Am. J. Med. Genet. 129A: 218-224, 2004.
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[PubMed: 15326620]
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[Full Text: https://doi.org/10.1002/ajmg.a.30237]
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<p class="mim-text-font">
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Blomquist, H. K., Bohman, M., Edvinsson, S. O., Gillberg, C., Gustavson, K.-H., Holmgren, G., Wahlstrom, J.
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<strong>Frequency of the fragile X syndrome in infantile autism: a Swedish multicenter study.</strong>
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Clin. Genet. 27: 113-117, 1985.
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[PubMed: 3978844]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1985.tb00196.x]
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<p class="mim-text-font">
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Blomquist, H. K., Gustavson, K.-H., Holmgren, G., Nordenson, I., Sweins, A.
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<strong>Fragile site X chromosomes and X-linked mental retardation in severely retarded boys in a northern Swedish county: a prevalence study.</strong>
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Clin. Genet. 21: 209-214, 1982.
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[PubMed: 7201364]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1982.tb00965.x]
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Cassandra L. Kniffin - updated : 8/3/2015<br>Cassandra L. Kniffin - updated : 5/12/2015<br>Ada Hamosh - updated : 3/28/2014<br>Cassandra L. Kniffin - updated : 9/26/2012<br>Cassandra L. Kniffin - updated : 6/7/2011<br>Cassandra L. Kniffin - updated : 1/25/2010<br>Cassandra L. Kniffin - updated : 12/30/2009<br>Cassandra L. Kniffin - updated : 10/27/2009<br>Cassandra L. Kniffin - updated : 4/6/2009<br>Cassandra L. Kniffin - updated : 1/16/2009<br>Cassandra L. Kniffin - updated : 5/19/2008<br>Marla J. F. O'Neill - updated : 4/24/2008<br>Cassandra L. Kniffin - updated : 8/2/2007
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