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Entry
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- #210900 - BLOOM SYNDROME; BLM
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- OMIM
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<p>
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<span class="h4">#210900</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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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/210900"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS210900"> <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="#biochemicalFeatures">Biochemical Features</a>
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<a href="#otherFeatures">Other Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</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">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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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 id="mimFloatingLinksMenu">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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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>
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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="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=BLOOM 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=430&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/NBK1398/" 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/879" 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://medlineplus.gov/genetics/condition/bloom-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=210900[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=125" 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/eaf011e9-43a5-40a0-98be-98c97585c114/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>
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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:2717" 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/210900" 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://wormbase.org/resources/disease/DOID:2717" 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:210900" 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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</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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</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> 4434006<br />
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<strong>ORPHA:</strong> 125<br />
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<strong>DO:</strong> 2717<br />
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">ICD+</a>
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</div>
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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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210900
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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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BLOOM SYNDROME; BLM
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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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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
BS; BLS<br />
|
|
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 1; MGRISCE1
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
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|
|
</div>
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|
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|
|
|
|
<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/15/520?start=-3&limit=10&highlight=520">
|
|
15q26.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Bloom syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/210900"> 210900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
|
|
RECQL3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604610"> 604610 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/210900" 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/PS210900" 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/210900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/210900" 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">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Average adult male height 151cm <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859417</a>]</span><br /> -
|
|
Average adult female height 144cm <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859418&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859418</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Prenatal onset growth retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22033007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22033007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/764.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.90</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/764.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015934&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015934</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span><br /> -
|
|
Growth failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0878787&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0878787</a>, <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</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">
|
|
|
|
- Dolichocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72239002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72239002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221358&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221358</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000268</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000268</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=b49d4ad3bcb5a39e5263c4f1d7454a3e" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Dolichocephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=b49d4ad3bcb5a39e5263c4f1d7454a3e" 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 /> -
|
|
Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" 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">
|
|
|
|
- Narrow <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25659002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25659002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/134223000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">134223000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0332463&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0332463</a>, <a href="https://bioportal.bioontology.org/search?q=C0333164&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0333164</a>, <a href="https://bioportal.bioontology.org/search?q=C1837463&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837463</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000275" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000275</a>]</span><br /> -
|
|
Malar hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858085&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858085</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000272</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000272</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=679675da378a2ab79998b5e87cd5918a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Malar_Flattening-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=679675da378a2ab79998b5e87cd5918a" 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> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Prominent ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275478007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275478007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1305420&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1305420</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000411" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000411</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000411" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000411</a>]</span><br />
|
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</span>
|
|
</div>
|
|
</div>
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Prominent nose <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249311009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249311009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426415&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426415</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000448" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000448</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000448" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000448</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9e12185cce160056955b37b4c23f722f" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nose,Prominent-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9e12185cce160056955b37b4c23f722f" 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 />
|
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</span>
|
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</div>
|
|
</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Absent upper lateral incisors <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4083046&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4083046</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000690" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000690</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000690" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000690</a>]</span><br />
|
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|
</span>
|
|
</div>
|
|
</div>
|
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|
|
|
</div>
|
|
|
|
</div>
|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Airways </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Bronchiectasis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12295008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12295008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J47" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J47</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/J47.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J47.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">494</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0006267&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0006267</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002110</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002110</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Lung </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Chronic lung disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413839001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413839001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0746102&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0746102</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006528" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006528</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006528" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006528</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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> Internal Genitalia (Male) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Azoospermia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/425558002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">425558002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48188009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48188009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N46.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N46.01</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N46.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N46.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/606.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">606.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004509&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004509</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000027</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000027</a>]</span><br /> -
|
|
Cryptorchidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204878001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204878001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q53.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010417</a>, <a href="https://bioportal.bioontology.org/search?q=C5441920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441920</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Female) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Reduced fertility in females <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151639&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151639</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000868" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000868</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000868" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000868</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<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> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Syndactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373413006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373413006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2117411&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2117411</a>, <a href="https://bioportal.bioontology.org/search?q=C0039075&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039075</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Foot,Osseous_Syndactyly_of-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12" 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 /> -
|
|
Polydactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367506006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367506006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q69.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q69.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q69" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q69</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/755.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152427&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152427</a>, <a href="https://bioportal.bioontology.org/search?q=C2117329&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2117329</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010442</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010442</a>]</span><br /> -
|
|
Fifth finger clinodactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850049&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850049</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004209</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004209</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
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</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">
|
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<em> Skin </em>
|
|
</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
- Facial telangiectasia in butterfly midface distribution (exacerbated by sun) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806177&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806177</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005598" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005598</a>]</span><br /> -
|
|
Spotty hypopigmentation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806178&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806178</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005590" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005590</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005590" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005590</a>]</span><br /> -
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|
Spotty hyperpigmentation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806179&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806179</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005585" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005585</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005585" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005585</a>]</span><br /> -
|
|
Cafe-au-lait spots <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/201281002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">201281002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L81.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L81.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221263&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221263</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000957</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000957</a>]</span><br /> -
|
|
Hypertrichosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29966009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29966009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271607001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271607001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L68" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L68</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L68.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L68.3</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L68.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L68.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020555&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020555</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000998" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000998</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000998" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000998</a>]</span><br /> -
|
|
Photosensitivity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90128006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90128006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349506&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349506</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000992" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000992</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000992" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000992</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
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|
|
|
|
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|
|
</div>
|
|
|
|
</div>
|
|
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|
|
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|
|
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|
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|
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<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">
|
|
|
|
- Mild mental retardation in some <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86765009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86765009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026106&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026106</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001256</a>]</span><br /> -
|
|
Learning disability <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1855002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1855002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/408468001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">408468001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F81.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F81.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1321592&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1321592</a>, <a href="https://bioportal.bioontology.org/search?q=C0751265&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751265</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001328" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001328</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>
|
|
<span class="h5 mim-font">
|
|
<strong> VOICE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- High-pitched <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51406002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51406002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241703&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241703</a>, <a href="https://bioportal.bioontology.org/search?q=C4049932&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4049932</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001620" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001620</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
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|
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</div>
|
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</div>
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|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Noninsulin-dependent diabetes mellitus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44054006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44054006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011860&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011860</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005978" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005978</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005978" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005978</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
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|
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|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> IMMUNOLOGY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Immunoglobulin deficiency (IgA, IgG, IgM) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859420&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859420</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/124950009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">124950009</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004313" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004313</a>]</span><br /> -
|
|
Impaired lymphocyte proliferation response to malignancy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859421</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEOPLASIA </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Leukemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/93143009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">93143009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162768007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162768007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C95" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C95</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/C95.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C95.90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/C95.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C95.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/208.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">208.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/208" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">208</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023418&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023418</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001909" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001909</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001909" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001909</a>]</span><br /> -
|
|
Lymphoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1163043007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1163043007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/188676008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">188676008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/118600007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">118600007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C85.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C85.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024299&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024299</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002665" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002665</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002665" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002665</a>]</span><br /> -
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Adenocarcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1186968006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1186968006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/443961001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">443961001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1187332001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1187332001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5551397&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5551397</a>, <a href="https://bioportal.bioontology.org/search?q=C0001418&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001418</a>]</span><br /> -
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Squamous cell carcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162767002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162767002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/402815007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">402815007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007137</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002860" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002860</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002860" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002860</a>]</span><br /> -
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Hypersensitivity to chemotherapy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859419&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859419</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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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- High sister chromatid exchange (SCE) rate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859422&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859422</a>]</span><br /> -
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SCE normal in heterozygotes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859423&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859423</a>]</span><br /> -
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Increased chromosomal breakage <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0376628&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0376628</a>, <a href="https://bioportal.bioontology.org/search?q=C1859424&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859424</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040012" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040012</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040012" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040012</a>]</span><br /> -
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Decreased IgA, IgG, IgM <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859425&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859425</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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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Life-threatening infections<br /> -
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Predisposition to neoplasia<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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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the RecQ protein-like 3 gene (RECQL3, <a href="/entry/604610#0001">604610.0001</a>)<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 class="text-right">
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<a href="#mimClinicalSynopsisFold" 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 id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Microcephaly, growth restriction and increased sister chromatid exchange
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- <a href="/phenotypicSeries/PS210900">PS210900</a>
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- 2 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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</th>
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</tr>
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</thead>
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<tbody>
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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/15/520?start=-3&limit=10&highlight=520"> 15q26.1 </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/210900"> Bloom 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="Autosomal recessive">AR</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/210900"> 210900 </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/604610"> RECQL3 </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/604610"> 604610 </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/17/283?start=-3&limit=10&highlight=283"> 17p11.2 </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/618097"> Microcephaly, growth restriction, and increased sister chromatid exchange 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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|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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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|
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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/618097"> 618097 </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/601243"> TOP3A </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/601243"> 601243 </a>
|
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</span>
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</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 Bloom syndrome (BLM), also referred to here as microcephaly, growth restriction, and increased sister chromatid exchange-1 (MGRISCE1), is caused by homozygous or compound heterozygous mutation in the RECQL3 gene (BLM; <a href="/entry/604610">604610</a>) on chromosome 15q26.</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>Bloom syndrome (BLM) is an autosomal recessive disorder characterized by prenatal and postnatal growth deficiency; photosensitive skin changes; immune deficiency; insulin resistance; increased risk for diabetes; greatly increased risk of early onset of cancer and for the development of multiple cancers; and chromosomal instability (summary by <a href="#15" class="mim-tip-reference" title="Cunniff, C., Bassetti, J. A., Ellis, N. A. <strong>Bloom's syndrome: clinical spectrum, molecular pathogenesis, and cancer predisposition.</strong> Molec. Syndromol. 8: 4-23, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28232778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28232778</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28232778[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/10.1159/000452082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28232778">Cunniff et al., 2017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28232778" 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>Genetic Heterogeneity of Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange</em></strong></p><p>
|
|
See also MGRISCE2 (<a href="/entry/618097">618097</a>), caused by mutation in the TOP3A gene (<a href="/entry/601243">601243</a>) on chromosome 17p12.</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="clinicalFeatures" class="mim-anchor"></a>
|
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
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<strong>Clinical Features</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#28" class="mim-tip-reference" title="German, J., Bloom, D., Passarge, E., Fried, K., Goodman, R. M., Katzenellenbogen, I., Larson, Z., Legum, C., Levine, S., Wahrman, J. <strong>Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim.</strong> Am. J. Hum. Genet. 29: 553-562, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/930922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">930922</a>]" pmid="930922">German et al. (1977)</a> found that, in Israel, Bloom syndrome occurred only in Ashkenazi Jews. <a href="#30" class="mim-tip-reference" title="German, J., Bloom, D., Passarge, E. <strong>Bloom's syndrome XI. Progress report for 1983.</strong> Clin. Genet. 25: 166-174, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6705251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6705251</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1984.tb00480.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6705251">German et al. (1984)</a> stated that the Bloom Syndrome Registry had information on 103 patients, only 45 of whom had been reported in the literature. Noteworthy was the occurrence of BS in 7 Japanese patients. Eighty of the 103 patients were alive, with a mean age of 18.2 years. Twenty-eight malignant neoplasms had been detected, at a mean age of 20.7 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=930922+6705251" 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="#34" class="mim-tip-reference" title="German, J., Takebe, H. <strong>Bloom's syndrome. XIV. The disorder in Japan.</strong> Clin. Genet. 35: 93-110, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2721026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2721026</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1989.tb02913.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2721026">German and Takebe (1989)</a> suggested that differences in skin pigmentation in various ethnic groups may confer a degree of protection against actinic radiation and thus obscure one of the characteristic facial signs of Bloom syndrome, i.e., telangiectasia. As a result, Bloom syndrome may be underdiagnosed in some populations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2721026" 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="#77" class="mim-tip-reference" title="Van Kerckhove, C. W., Ceuppens, J. L., Vanderschueren-Lodeweyckx, M., Eggermont, E., Vertessen, S., Stevens, E. A. M. <strong>Bloom's syndrome: clinical features and immunologic abnormalities of four patients.</strong> Am. J. Dis. Child. 142: 1089-1093, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3263039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3263039</a>] [<a href="https://doi.org/10.1001/archpedi.1988.02150100083032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3263039">Van Kerckhove et al. (1988)</a> found a specific defect in the pokeweed mitogen-induced alternative pathway of lymphocyte activation in patients with Bloom syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3263039" 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="Legum, C., Furman, N., Diamant, S. <strong>Bloom's syndrome in an Iranian Jewish male.</strong> Ann. Genet. 34: 198-200, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1809226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1809226</a>]" pmid="1809226">Legum et al. (1991)</a> described an affected Iranian Jewish male, possibly the first definite non-Ashkenazi Jewish patient reported in the literature. The patient had another unique complication, cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1809226" 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 14 Japanese cases reported by <a href="#34" class="mim-tip-reference" title="German, J., Takebe, H. <strong>Bloom's syndrome. XIV. The disorder in Japan.</strong> Clin. Genet. 35: 93-110, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2721026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2721026</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1989.tb02913.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2721026">German and Takebe (1989)</a> differed somewhat from most cases recognized elsewhere in that dolichocephaly was a less constant feature, the facial skin lesions were less prominent, and life-threatening infections were less frequent. The characteristic predisposition to neoplasia, as well as the probable tendency to diabetes mellitus, was found, however. <a href="#37" class="mim-tip-reference" title="German, J. <strong>Personal Communication.</strong> New York, N. Y. 1990."None>German (1990)</a> stated that diabetes mellitus of maturity-onset type, developing, however, in the second or third decade, is proving to be a frequent feature. <a href="#52" class="mim-tip-reference" title="Mori, S., Kondo, N., Motoyoshi, F., Yamaguchi, S., Kaneko, H., Orii, T. <strong>Diabetes mellitus in a young man with Bloom's syndrome.</strong> Clin. Genet. 38: 387-390, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2282719/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2282719</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1990.tb03601.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2282719">Mori et al. (1990)</a> reported diabetes mellitus in Bloom syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2721026+2282719" 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="#71" class="mim-tip-reference" title="Szalay, G. C., Weinstein, E. D. <strong>Questionable Bloom syndrome in a Negro girl.</strong> Am. J. Dis. Child. 124: 245-248, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5052410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5052410</a>] [<a href="https://doi.org/10.1001/archpedi.1972.02110140095014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5052410">Szalay and Weinstein (1972)</a> reported what they considered to be the first case of Bloom syndrome in a black patient. The 13-year-old female had sensitivity to sunlight and stunted growth from birth, but did not have telangiectatic erythema. Her parents were consanguineous, and she had chromosomal alterations. German (<a href="#73" class="mim-tip-reference" title="Szalay, G. C. <strong>Personal Communication.</strong> Harbor City, Calif. 5/28/1978."None>Szalay, 1978</a>) confirmed the diagnosis of Bloom syndrome in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5052410" 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="#36" class="mim-tip-reference" title="German, J. <strong>Personal Communication.</strong> New York, N. Y. 2/17/1988."None>German (1988)</a> stated that the longest survival known to him is that of a man who died of esophageal cancer at the age of 48 years, having survived sigmoid cancer which had occurred 10 years earlier. Almost 150 cases worldwide had been cataloged by <a href="#37" class="mim-tip-reference" title="German, J. <strong>Personal Communication.</strong> New York, N. Y. 1990."None>German (1990)</a>; he had personally examined 96 of these patients. Jewish patients represented 32% of the group, all but 1 of them being Ashkenazi. Complementation studies using sister chromatid exchange (SCE) as the measure of cross-correction indicate that this is one disease. Parental consanguinity was identified in 2 of 36 Jewish cases and in 25 of 75 non-Jewish cases. Heterozygotes do not show increased sister chromatid exchanges. <a href="#37" class="mim-tip-reference" title="German, J. <strong>Personal Communication.</strong> New York, N. Y. 1990."None>German (1990)</a> has not found an increased frequency of cancer in obligatory heterozygotes.</p><p><a href="#56" class="mim-tip-reference" title="Passarge, E. <strong>Bloom's syndrome: the German experience.</strong> Ann. Genet. 34: 179-197, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1809225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1809225</a>]" pmid="1809225">Passarge (1991)</a> observed 10 patients in Germany during a 20-year period. One patient died at the age of 5 years of acute leukemia, a second at the age of 18 years of pulmonary fibrosis and bronchiectasis, and a third at the age of 21 years of Hodgkin lymphoma and subsequently leukemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1809225" 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="#39" class="mim-tip-reference" title="German, J. <strong>Personal Communication.</strong> New York, N. Y. 11/12/1992."None>German (1992)</a> reported that there were 132 cases in the Bloom Syndrome Registry as of January 1, 1990. One hundred and twenty seven had survived infancy. In all, 93 were still alive. Of the 39 deceased patients, 31 had died of cancer at a mean age of 27.8; cancer had been diagnosed at ages ranging from 4 years to 46 years. Of the 46 cancer patients, 14 had more than 1 primary, 2 had more than 2 primaries, and 1 had more than 3 primaries.</p><p><a href="#14" class="mim-tip-reference" title="Chisholm, C. A., Bray, M. J., Karns, L. B. <strong>Successful pregnancy in a woman with Bloom syndrome.</strong> Am. J. Med. Genet. 102: 136-138, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11477604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11477604</a>] [<a href="https://doi.org/10.1002/ajmg.1437" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11477604">Chisholm et al. (2001)</a> reported a 19-year-old woman with typical clinical features of Bloom syndrome with a successful pregnancy. Because of her small pelvis on clinical examination, the patient underwent computed tomography pelvimetry, which showed adequate pelvic capacity. Preterm labor occurred at 32 weeks' gestation, and the infant was ultimately delivered at 35 weeks' gestation. The infant was less than the tenth percentile for length and weight for gestational age, but was otherwise healthy. Since preterm labor had occurred in this and a previously reported pregnancy in Bloom syndrome (<a href="#53" class="mim-tip-reference" title="Mulcahy, M. T., French, M. <strong>Pregnancy in Bloom's syndrome.</strong> Clin. Genet. 19: 156-158, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7273457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7273457</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1981.tb00689.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7273457">Mulcahy and French, 1981</a>), <a href="#14" class="mim-tip-reference" title="Chisholm, C. A., Bray, M. J., Karns, L. B. <strong>Successful pregnancy in a woman with Bloom syndrome.</strong> Am. J. Med. Genet. 102: 136-138, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11477604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11477604</a>] [<a href="https://doi.org/10.1002/ajmg.1437" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11477604">Chisholm et al. (2001)</a> suggested increased surveillance for preterm labor in pregnancies of women with Bloom syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7273457+11477604" 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="#15" class="mim-tip-reference" title="Cunniff, C., Bassetti, J. A., Ellis, N. A. <strong>Bloom's syndrome: clinical spectrum, molecular pathogenesis, and cancer predisposition.</strong> Molec. Syndromol. 8: 4-23, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28232778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28232778</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28232778[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/10.1159/000452082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28232778">Cunniff et al. (2017)</a> noted that males with Bloom syndrome are invariably infertile and have been found to have azoospermia or severe oligospermia. Affected females have delayed puberty and early menopause. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28232778" 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 review of Bloom syndrome, <a href="#1" class="mim-tip-reference" title="Ababou, M. <strong>Bloom syndrome and the underlying cause of genetic instability.</strong> Molec. Genet. Metab. 133: 35-48, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33736941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33736941</a>] [<a href="https://doi.org/10.1016/j.ymgme.2021.03.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33736941">Ababou (2021)</a> summarized 277 cancers diagnosed in 145 patients reported in the Bloom Syndrome Registry from 1954 to 2018. Seventy-seven hematologic malignancies were reported, with lymphoma being the most frequently reported in this category (37 cases), followed by acute myeloid leukemia (17 cases). Carcinomas were reported 130 times, with colorectal being the most frequently reported in this category (28 cases), followed by breast cancer (24 cases) and basal cell carcinoma (13 cases). Among the 20 rare tumor cases, Wilms tumor was reported 8 times. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33736941" 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 review of cancer diagnosis and survival among 290 individuals in the Bloom Syndrome Registry, <a href="#70" class="mim-tip-reference" title="Sugranes, T. A., Flanagan, M., Thomas, C., Chang, V. Y., Walsh, M., Cunniff, C. <strong>Age of first cancer diagnosis and survival in Bloom syndrome.</strong> Genet. Med. 24: 1476-1484, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35420546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35420546</a>] [<a href="https://doi.org/10.1016/j.gim.2022.03.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35420546">Sugranes et al. (2022)</a> found that the median time to first malignancy of any type was 29 years. The median survival for all individuals in the registry was 36.2 years, whereas the median for those with a malignancy was 34.1 years. Median survival was 25.4 years in those with a hematologic malignancy compared to 37.7 years in those with a solid tumor. There were no significant differences in time to first cancer diagnosis or survival by genotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35420546" 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="#43" class="mim-tip-reference" title="Landau, J. W., Sasaki, M. S., Newcomer, V. D., Norman, A. <strong>Bloom's syndrome: the syndrome of telangiectatic erythema and growth retardation.</strong> Arch. Derm. 94: 687-694, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5923432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5923432</a>] [<a href="https://doi.org/10.1001/archderm.94.6.687" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5923432">Landau et al. (1966)</a> described a patient with Bloom syndrome whose parents were second cousins and who showed low gamma-A and gamma-M serum proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5923432" 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="#78" class="mim-tip-reference" title="Vijayalaxmi, (NI), Evans, H. J., Ray, J. H., German, J. <strong>Bloom's syndrome: evidence for an increased mutation frequency in vivo.</strong> Science 221: 851-853, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6879180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6879180</a>] [<a href="https://doi.org/10.1126/science.6879180" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6879180">Vijayalaxmi et al. (1983)</a> found that lymphocytes from patients with Bloom syndrome showed an incidence of cell resistance to the purine analog 6-thioguanine about 8 times the normal. Cells with specific locus mutations have been reported to be present in abnormally great numbers in BS fibroblast cultures, e.g., 6-thioguanine-resistant and diphtheria toxin-resistant cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6879180" 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="#66" class="mim-tip-reference" title="Seal, G., Tallarida, R. J., Sirover, M. A. <strong>Purification and properties of the uracil DNA glycosylase from Bloom's syndrome.</strong> Biochim. Biophys. Acta 1097: 299-308, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1742335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1742335</a>] [<a href="https://doi.org/10.1016/0925-4439(91)90085-n" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1742335">Seal et al. (1991)</a> compared the uracil DNA glycosylase from 2 nontransformed cell strains derived from persons of different ethnic backgrounds, with 2 different, similarly highly purified, normal human uracil DNA glycosylases. For each of the 4, a molecular mass of 37 kD was observed. The Bloom syndrome enzymes differed substantially in their isoelectric point and were thermolabile as compared to the normal human enzymes. They displayed a different K(m) and V(max) and were strikingly insensitive to 5-fluorouracil and 5-bromouracil, pyrimidine analogs that drastically decreased the activity of the normal human enzymes. In particular, each Bloom syndrome enzyme required 10- to 100-fold higher concentrations of each analog to achieve comparable inhibition of enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1742335" 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="#45" class="mim-tip-reference" title="Langlois, R. G., Bigbee, W. L., Jensen, R. H., German, J. <strong>Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome.</strong> Proc. Nat. Acad. Sci. 86: 670-674, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2911598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2911598</a>] [<a href="https://doi.org/10.1073/pnas.86.2.670" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2911598">Langlois et al. (1989)</a> used a glycophorin A assay to measure the frequency in persons of blood type MN of variant erythrocytes that lack the expression of 1 allelic form of the protein, presumably due to mutational or recombinational events in erythroid precursor cells. Blood from persons with Bloom syndrome showed 50- to 100-fold increases in the frequency of variants of 3 types, those with a hemizygous phenotype, those with a homozygous phenotype, and those with what appeared to be partial loss of the expression of 1 locus. The high frequency of homozygous variants, indicating altered allelic segregation, could be taken as evidence for increased somatic crossing-over in vivo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2911598" 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 increased generation of functional hemizygosity and homozygosity in somatic cells may play a role in the high cancer risk of persons with Bloom syndrome. Accumulation of p53 (<a href="/entry/191170">191170</a>) protein is seen in the nuclei of mammalian cells following DNA damage caused by ultraviolet radiation, x-ray, or a restriction enzyme. Promoters containing p53-binding sites show a dramatic transcriptional response to DNA damage. The p53 response to x-ray is rapid, reaching a peak at 2 hours after radiation, but is very transitory and reduced in magnitude compared with that seen in response to UV. <a href="#49" class="mim-tip-reference" title="Lu, X., Lane, D. P. <strong>Differential induction of transcriptionally active p53 following UV or ionizing radiation: defects in chromosome instability syndromes?</strong> Cell 75: 765-778, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8242748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8242748</a>] [<a href="https://doi.org/10.1016/0092-8674(93)90496-d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8242748">Lu and Lane (1993)</a> found no substantive defect in the p53 response of cells from ataxia-telangiectasia (<a href="/entry/208900">208900</a>) or xeroderma pigmentosum complementation group A (<a href="/entry/278700">278700</a>) patients. In contrast, 2 out of 11 primary cultures from Bloom syndrome patients showed complete absence of p53 accumulation following UV irradiation or SV40 infection and a grossly delayed and aberrant response following x-ray. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8242748" 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="#72" class="mim-tip-reference" title="Szalay, G. C. <strong>Dwarfism with skin manifestations.</strong> J. Pediat. 62: 686-695, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13979851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13979851</a>] [<a href="https://doi.org/10.1016/s0022-3476(63)80038-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13979851">Szalay (1963)</a> provided the first evidence of a genetic basis of Bloom syndrome. He described an isolated case in the child of first-cousin parents and 2 affected sibs. Autosomal recessive inheritance was established by <a href="#35" class="mim-tip-reference" title="German, J. <strong>Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients.</strong> Am. J. Hum. Genet. 21: 196-227, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5770175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5770175</a>]" pmid="5770175">German (1969)</a>, who maintains a worldwide registry which he periodically reports on (e.g., <a href="#29" class="mim-tip-reference" title="German, J., Bloom, D., Passarge, E. <strong>Bloom's syndrome. VII. Progress report for 1978.</strong> Clin. Genet. 15: 361-367, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/436333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">436333</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1979.tb01747.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="436333">German et al., 1979</a>). Of the then-known 21 families with Bloom syndrome, 12 were Ashkenazi and in these only 1 parental couple was consanguineous. On the other hand, 6 of the 9 non-Jewish unions were consanguineous. The Jewish mutation appeared to have originated in a local area of eastern Europe. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=436333+13979851+5770175" 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="#34" class="mim-tip-reference" title="German, J., Takebe, H. <strong>Bloom's syndrome. XIV. The disorder in Japan.</strong> Clin. Genet. 35: 93-110, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2721026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2721026</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1989.tb02913.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2721026">German and Takebe (1989)</a> reported that 14 patients from 12 families had been identified in Japan. Widely separated birthplaces and a frequency of parental consanguinity greater than in the general population suggested that the mutation, although rare, is widely distributed in that country. Complementation studies indicated that the same genetic locus is involved in the Japanese cases as in the Ashkenazi Jewish cases and non-Ashkenazi Jewish cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2721026" 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="#39" class="mim-tip-reference" title="German, J. <strong>Personal Communication.</strong> New York, N. Y. 11/12/1992."None>German (1992)</a> commented that BS neoplasms themselves, e.g., leukemic marrow cells, demonstrate a high sister chromatid exchange rate similar to nonneoplastic cells of BS patients. A clinical difference is that leukemia in BS usually presents itself with leukopenia rather than leukocytosis.</p><p><a href="#39" class="mim-tip-reference" title="German, J. <strong>Personal Communication.</strong> New York, N. Y. 11/12/1992."None>German (1992)</a> advised against frequent hematologic examinations in children for fear of untoward psychologic effects. Allogeneic marrow grafting has not been carried out in BS. An argument can be made for identifying as soon as possible a potential donor of bone marrow for any person with BS, and the cryopreservation of cord-blood stem cells of HLA-matched sibs who might be born after the BS child is identified can be considered, for possible later transplantation.</p>
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<p>Multiple seemingly nonspecific chromosomal breaks have been observed in Bloom syndrome, as in Fanconi anemia (<a href="/entry/227650">227650</a>), and may be related causally to the high frequency of leukemia (<a href="#27" class="mim-tip-reference" title="German, J., Archibald, R., Bloom, D. <strong>Chromosomal breakage in a rare and probably genetically determined syndrome of man.</strong> Science 148: 506-507, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14263770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14263770</a>] [<a href="https://doi.org/10.1126/science.148.3669.506" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14263770">German et al., 1965</a>; <a href="#39" class="mim-tip-reference" title="German, J. <strong>Personal Communication.</strong> New York, N. Y. 11/12/1992."None>German, 1992</a>). (The Bloom and Fanconi syndromes are chromosome breakage or clastogenic syndromes.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14263770" 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="#64" class="mim-tip-reference" title="Schroeder, T. M., German, J. B. <strong>Bloom's syndrome and Fanconi's anemia: demonstration of two distinctive patterns of chromosome disruption and rearrangement.</strong> Humangenetik 25: 299-306, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4464237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4464237</a>] [<a href="https://doi.org/10.1007/BF00336905" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4464237">Schroeder and German (1974)</a> showed that chromosomal aberrations were more numerous in Fanconi cells than in Bloom cells. In Bloom syndrome most interchanges were between homologous chromosomes, i.e., sister chromatid exchanges, whereas in Fanconi syndrome they were usually between nonhomologous chromosomes. Sister chromatid exchanges represent a cytologic marker useful for diagnosis including prenatal diagnosis. No test for the carrier state is known; the frequency of sister chromatid exchanges is not abnormal in heterozygotes (<a href="#28" class="mim-tip-reference" title="German, J., Bloom, D., Passarge, E., Fried, K., Goodman, R. M., Katzenellenbogen, I., Larson, Z., Legum, C., Levine, S., Wahrman, J. <strong>Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim.</strong> Am. J. Hum. Genet. 29: 553-562, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/930922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">930922</a>]" pmid="930922">German et al., 1977</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4464237+930922" 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>Although the nature of the basic defect was not known, the absence of a substance that is supplied by cocultivated normal cells and reduced the rate of sister chromatid exchanges in Bloom syndrome fibroblasts was suggested by the work of <a href="#61" class="mim-tip-reference" title="Rudiger, H. W., Bartram, C. R., Harder, W., Passarge, E. <strong>Rate of sister chromatid exchanges in Bloom syndrome fibroblasts reduced by co-cultivation with normal fibroblasts.</strong> Am. J. Hum. Genet. 32: 150-157, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7386453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7386453</a>]" pmid="7386453">Rudiger et al. (1980)</a>. Spontaneous SCE, but not mutagen-induced SCE, is inhibited by the Bloom corrective factor present in normal cell-conditioned culture medium. Control cells and cells of Fanconi anemia and xeroderma pigmentosum reduced the rate of sister chromatid exchanges in Bloom cells by about 45 to 50% (<a href="#4" class="mim-tip-reference" title="Bartram, C. R., Rudiger, H. W., Schmidt-Preuss, U., Passarge, E. <strong>Functional deficiency of fibroblasts heterozygous for Bloom syndrome as specific manifestation of the primary defect.</strong> Am. J. Hum. Genet. 33: 928-934, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7325155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7325155</a>]" pmid="7325155">Bartram et al., 1981</a>). In contrast, Bloom heterozygous cells reduced the rate of SCE by only 16 to 18%. <a href="#4" class="mim-tip-reference" title="Bartram, C. R., Rudiger, H. W., Schmidt-Preuss, U., Passarge, E. <strong>Functional deficiency of fibroblasts heterozygous for Bloom syndrome as specific manifestation of the primary defect.</strong> Am. J. Hum. Genet. 33: 928-934, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7325155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7325155</a>]" pmid="7325155">Bartram et al. (1981)</a> interpreted the findings as indicative of dosage effect. They concluded that the data suggest the existence of a 'corrective factor' which is either inactive or absent in homozygous Bloom cells and reduced in heterozygotes. It may be identical with or closely related to the normal gene product of the Bloom locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7386453+7325155" 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="Weksberg, R., Smith, C., Anson-Cartwright, L., Maloney, K. <strong>Bloom syndrome: a single complementation group defines patients of diverse ethnic origin.</strong> Am. J. Hum. Genet. 42: 816-824, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3163468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3163468</a>]" pmid="3163468">Weksberg et al. (1988)</a> addressed the issue of dominance or recessivity of the low-SCE Bloom syndrome phenotype. Although most cells from BS patients exhibit high SCE, lymphoid cells from some patients exhibit dimorphism for high and low SCE. A high-SCE lymphoblast line was mutagenized, and a clone carrying the markers ouabain resistance and thioguanine resistance was isolated to serve as a fusion parent. When fused with low-SCE BS lines, the hybrid was found to have low SCE levels, establishing dominance of the low-SCE phenotype. By the same methodology, <a href="#80" class="mim-tip-reference" title="Weksberg, R., Smith, C., Anson-Cartwright, L., Maloney, K. <strong>Bloom syndrome: a single complementation group defines patients of diverse ethnic origin.</strong> Am. J. Hum. Genet. 42: 816-824, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3163468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3163468</a>]" pmid="3163468">Weksberg et al. (1988)</a> did a complementation analysis using high-SCE lymphoblast cell lines derived from patients of diverse ethnic origin: Ashkenazi Jewish, French Canadian, Mennonite, and Japanese. No correction of the high SCE characteristic of BS cells was seen in any hybrids. Thus, a single gene is responsible for the high-SCE phenotype in BS patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3163468" 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="Poppe, B., Van Limbergen, H., Van Roy, N., Vandecruys, E., De Paepe, A., Benoit, Y., Speleman, F. <strong>Chromosomal aberrations in Bloom syndrome patients with myeloid malignancies.</strong> Cancer Genet. Cytogenet. 128: 39-42, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11454428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11454428</a>] [<a href="https://doi.org/10.1016/s0165-4608(01)00392-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11454428">Poppe et al. (2001)</a> presented the cytogenetic findings in a Bloom syndrome patient diagnosed with acute myeloid leukemia (AML) of the FAB subtype M1, as well as a review of the literature, which showed the preferential occurrence of total or partial loss of chromosome 7 in BS patients with AML or myelodysplastic syndromes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11454428" 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="#44" class="mim-tip-reference" title="Lander, E. S., Botstein, D. <strong>Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children.</strong> Science 236: 1567-1570, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2884728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2884728</a>] [<a href="https://doi.org/10.1126/science.2884728" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2884728">Lander and Botstein (1987)</a> pointed out that recessive disorders can be efficiently mapped using RFLPs in the study of the DNA of affected children from consanguineous marriages. The method, which the authors called 'homozygosity mapping,' involves detection of the disease locus by virtue of the fact that the adjacent region will preferentially be homozygous by descent in such inbred children. They showed that a single affected child of a first-cousin marriage contains the same total information about linkage as a nuclear family with 3 affected children. They presented calculations to show that it should be practical to map a recessive disease gene by studying DNA from fewer than a dozen unrelated, affected inbred children, given a complete RFLP linkage map. Bloom syndrome was pointed to by <a href="#44" class="mim-tip-reference" title="Lander, E. S., Botstein, D. <strong>Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children.</strong> Science 236: 1567-1570, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2884728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2884728</a>] [<a href="https://doi.org/10.1126/science.2884728" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2884728">Lander and Botstein (1987)</a> as a good candidate for this type of mapping. About 100 living affected persons are known, but there are only 8 known families with 2 living affected members and 1 with 3 affected members. This is insufficient for traditional linkage analysis. By contrast, at least 24 affected persons are children of marriages between cousins. In some more common recessive disorders such as Werdnig-Hoffmann syndrome (<a href="/entry/253300">253300</a>), multiplex families may be difficult to collect because affected children die at a young age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2884728" 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>Because of the high parental consanguinity rate in non-Ashkenazi families with Bloom syndrome, <a href="#22" class="mim-tip-reference" title="Ellis, N. A., Roe, A. M., Otterud, B., Leppert, M., German, J. <strong>Homozygosity mapping of the Bloom's syndrome locus. (Abstract)</strong> Am. J. Hum. Genet. 51 (suppl.): A187, 1992."None>Ellis et al. (1992)</a> were able to do homozygosity mapping. Tight linkage was found with loci on distal 15q, specifically 15q26.1 (<a href="#32" class="mim-tip-reference" title="German, J., Roe, A. M., Leppert, M. F., Ellis, N. A. <strong>Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1.</strong> Proc. Nat. Acad. Sci. 91: 6669-6673, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8022833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8022833</a>] [<a href="https://doi.org/10.1073/pnas.91.14.6669" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8022833">German et al., 1994</a>). A polymorphic tetranucleotide repeat in an intron of the FES gene (<a href="/entry/190030">190030</a>) was homozygous in 25 of 26 individuals with Bloom syndrome whose parents were consanguineous (<a href="#32" class="mim-tip-reference" title="German, J., Roe, A. M., Leppert, M. F., Ellis, N. A. <strong>Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1.</strong> Proc. Nat. Acad. Sci. 91: 6669-6673, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8022833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8022833</a>] [<a href="https://doi.org/10.1073/pnas.91.14.6669" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8022833">German et al., 1994</a>). The location of the BLM gene on chromosome 15 was further supported by the finding of maternal uniparental disomy for that chromosome in a patient reported by <a href="#83" class="mim-tip-reference" title="Woodage, T., Prasad, M., Dixon, J. W., Selby, R. E., Romain, D. R., Columbano-Green, L. M., Graham, D., Rogan, P. K., Seip, J. R., Smith, A., Trent, R. J. <strong>Bloom syndrome and maternal uniparental disomy for chromosome 15.</strong> Am. J. Hum. Genet. 55: 74-80, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7912890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7912890</a>]" pmid="7912890">Woodage et al. (1994)</a>. The patient had features of both Bloom syndrome and Prader-Willi syndrome (PWS; <a href="/entry/176270">176270</a>). Meiotic recombination between the 2 chromosomes 15 derived from the mother had resulted in heterodisomy for proximal 15q and isodisomy for distal 15q. In this individual, Bloom syndrome was probably due to homozygosity for a gene located telomeric to D15S95, which is at 15q25, rather than to genetic imprinting, the mechanism responsible for the development of PWS. This report represented the first application of disomy analysis to the regional localization of a disease gene. <a href="#21" class="mim-tip-reference" title="Ellis, N. A., Roe, A. M., Kozloski, J., Proytcheva, M., Falk, C., German, J. <strong>Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome.</strong> Am. J. Hum. Genet. 55: 453-460, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8079989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8079989</a>]" pmid="8079989">Ellis et al. (1994)</a> found a striking association of a specific allele at the FES locus and at the D15S127 locus, both of which are tightly linked to BLM. This linkage disequilibrium constituted strong support for a founder-effect hypothesis to account for the fact that approximately 1 in 110 Ashkenazi Jews carries the Bloom syndrome mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7912890+8079989+8022833" 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 rarity of Bloom syndrome and the recessive nature of its inheritance limits mapping of the gene by linkage approaches. <a href="#51" class="mim-tip-reference" title="McDaniel, L. D., Schultz, R. A. <strong>Elevated sister chromatid exchange phenotype of Bloom syndrome cells is complemented by human chromosome 15.</strong> Proc. Nat. Acad. Sci. 89: 7968-7972, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1518822/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1518822</a>] [<a href="https://doi.org/10.1073/pnas.89.17.7968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1518822">McDaniel and Schultz (1992)</a> used Bloom syndrome cells as recipients for microcell-mediated chromosome transfer to map a locus that results in complementation of the elevated sister chromatid exchange phenotype. Studying the Bloom cell line GM08505 (Coriell Institute) with a stable frequency of SCEs 10-fold higher than control values, they demonstrated that transfer of human chromosome 15 corrected the defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1518822" 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="#68" class="mim-tip-reference" title="Straughen, J., Ciocci, S., Ye, T.-Z., Lennon, D. N., Proytcheva, M., Alhadeff, B., Goodfellow, P., German, J., Ellis, N. A., Groden, J. <strong>Physical mapping of the Bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1.</strong> Genomics 35: 118-128, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8661112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8661112</a>] [<a href="https://doi.org/10.1006/geno.1996.0330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8661112">Straughen et al. (1996)</a> described a 2-Mb contiguous map of the 15q26.1 region constructed from P1 clones and yeast artificial chromosomes (YACs) that contains the BLM gene. They also reported a long-range restriction map of this region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8661112" 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="#8" class="mim-tip-reference" title="Cairney, A. E. L., Andrews, M., Greenberg, M., Smith, D., Weksberg, R. <strong>Wilms tumor in three patients with Bloom syndrome.</strong> J. Pediat. 111: 414-416, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3040954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3040954</a>] [<a href="https://doi.org/10.1016/s0022-3476(87)80469-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3040954">Cairney et al. (1987)</a> described Wilms tumor in 3 patients with Bloom syndrome. Wilms tumor was bilateral in 1 of the 3 patients. <a href="#8" class="mim-tip-reference" title="Cairney, A. E. L., Andrews, M., Greenberg, M., Smith, D., Weksberg, R. <strong>Wilms tumor in three patients with Bloom syndrome.</strong> J. Pediat. 111: 414-416, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3040954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3040954</a>] [<a href="https://doi.org/10.1016/s0022-3476(87)80469-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3040954">Cairney et al. (1987)</a> postulated that the elevated somatic recombination may mediate a high rate of conversion to homozygosity. Somatic recombination leading to homozygosity in Bloom syndrome has been suggested by several findings, including 'twin spots' or areas of hyper- and hypopigmentation on the skin of affected black children (<a href="#25" class="mim-tip-reference" title="Festa, R. S., Meadows, A. T., Boshes, R. A. <strong>Leukemia in a black child with Bloom syndrome.</strong> Cancer 44: 1507-1510, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/291469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">291469</a>] [<a href="https://doi.org/10.1002/1097-0142(197910)44:4<1507::aid-cncr2820440448>3.0.co;2-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="291469">Festa et al., 1979</a>), increased frequency of exchange between the satellite stalks of acrocentric chromosomes (<a href="#74" class="mim-tip-reference" title="Therman, E., Otto, P. G., Shahidi, N. T. <strong>Mitotic recombination and segregation of satellites in Bloom's syndrome.</strong> Chromosoma 82: 627-636, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7261713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7261713</a>] [<a href="https://doi.org/10.1007/BF00285772" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7261713">Therman et al., 1981</a>), and increased variant blood group phenotypes in red cells from a patient with Bloom syndrome who was heterozygous for the AB blood group (<a href="#5" class="mim-tip-reference" title="Ben-Sasson, S. A., Cohen, T., Voss, R. <strong>Background allelic variants in normal hemopoietic cells and Bloom's syndrome erythrocytes and the possible implication of somatic crossing-over.</strong> Cancer Genet. Cytogenet. 15: 237-242, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3971316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3971316</a>] [<a href="https://doi.org/10.1016/0165-4608(85)90167-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3971316">Ben-Sasson et al., 1985</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3040954+7261713+3971316+291469" 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="#57" class="mim-tip-reference" title="Petrella, R., Hirschhorn, K., German, J. <strong>Triple autosomal trisomy in a pregnancy at risk for Bloom's syndrome.</strong> Am. J. Med. Genet. 40: 316-318, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1951436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1951436</a>] [<a href="https://doi.org/10.1002/ajmg.1320400314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1951436">Petrella et al. (1991)</a> observed autosomal triple trisomy involving chromosomes 2, 8, and 11 in a pregnancy conceived by a couple at risk for an offspring with Bloom syndrome. The SCE rate suggested that the conceptus was either heterozygous for the Bloom syndrome mutation or homozygous normal. They also found the Bloom syndrome gene in a non-Ashkenazi Jew and reported medulloblastoma in a patient with Bloom syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1951436" 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 hypermutability of Bloom syndrome cells includes hyperrecombinability. <a href="#18" class="mim-tip-reference" title="Ellis, N. A., Groden, J., Ye, T.-Z., Straughen, J., Lennon, D. J., Ciocci, S., Proytcheva, M., German, J. <strong>The Bloom's syndrome gene product is homologous to RecQ helicases.</strong> Cell 83: 655-666, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7585968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7585968</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90105-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7585968">Ellis et al. (1995)</a> noted that although cells from all persons with Bloom syndrome exhibit the diagnostic high SCE rate, in some persons a minor population of low SCE lymphocytes exist in the blood. Lymphoblastoid cell lines (LCLs) with low SCE rates can be developed from these low SCE lymphocytes. In multiple low SCE LCLs examined from 11 patients with BS, polymorphic loci distal to BLM on 15q had become homozygous in LCLs from 5 persons, whereas polymorphic loci proximal to BLM remained heterozygous in all low SCE LCLs. These observations supported the hypothesis that low SCE lymphocytes arose through recombination within BLM in persons with BS who had inherited paternally and maternally derived BLM alleles mutated at different sites. Such a recombination event in a precursor stem cell in these compound heterozygotes thus gave rise to a cell whose progeny had a functionally wildtype gene and phenotypically a low SCE rate (<a href="#19" class="mim-tip-reference" title="Ellis, N. A., Lennon, D. J., Proytcheva, M., Alhadeff, B., Henderson, E. E., German, J. <strong>Somatic intragenic recombination within the mutated locus BLM can correct the high SCE phenotype of Bloom syndrome cells.</strong> Am. J. Hum. Genet. 57: 1019-1027, 1995. Note: Erratum: Am. J. Hum. Genet. 58: 254 only, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7485150/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7485150</a>]" pmid="7485150">Ellis et al., 1995</a>). <a href="#18" class="mim-tip-reference" title="Ellis, N. A., Groden, J., Ye, T.-Z., Straughen, J., Lennon, D. J., Ciocci, S., Proytcheva, M., German, J. <strong>The Bloom's syndrome gene product is homologous to RecQ helicases.</strong> Cell 83: 655-666, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7585968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7585968</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90105-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7585968">Ellis et al. (1995)</a> used the low SCE LCLs in which reduction to homozygosity had occurred for localizing BLM by an approach referred to as somatic crossover point (SCP) mapping. The precise map position of BLM was determined by comparing the genotypes of the recombinant low SCE LCLs from the 5 persons mentioned above with their constitutional genotypes at loci in the region around BLM. The strategy was to identify the most proximal polymorphic locus possible that was constitutionally heterozygous and that had been reduced to homozygosity in the low SCE LCLs, and to identify the most distal polymorphic locus possible that had remained constitutionally heterozygous in them. BLM would have to be in the short interval defined by the reduced (distal) and the unreduced (proximal) heterozygous markers. The power of this approach was limited only by the density of polymorphic loci available in the immediate vicinity of BLM. A candidate gene for Bloom syndrome, designated BLM (RECQL3) was identified by direct selection of a cDNA derived from a 250-kb segment of the genome to which BLM had been assigned by SCP mapping. Mutation analysis in 13 unrelated persons with BLM identified 7 unique mutations in the gene in 10 patients. Four of the 7 mutations resulted in premature termination of translation, indicating that the cause of most cases of Bloom syndrome is loss of enzymatic activity of the RECQL3 gene product. Identification of loss-of-function mutations in RECQL3 was consistent with the autosomal recessive transmission, and the homology of RECQL3 with members of the RecQ gene family suggested that it has enzymatic activity. In 4 persons with Jewish ancestry, a homozygous 6-bp deletion/ 7-bp insertion at nucleotide 2281 in the RECQL3 was identified. Homozygosity was predictable because linkage disequilibrium had been detected in Ashkenazi Jews with Bloom syndrome between RECQL3, D15S127, and FES (<a href="#21" class="mim-tip-reference" title="Ellis, N. A., Roe, A. M., Kozloski, J., Proytcheva, M., Falk, C., German, J. <strong>Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome.</strong> Am. J. Hum. Genet. 55: 453-460, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8079989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8079989</a>]" pmid="8079989">Ellis et al., 1994</a>). Thus, this was a founder mutation in the Ashkenazi Jewish population. <a href="#18" class="mim-tip-reference" title="Ellis, N. A., Groden, J., Ye, T.-Z., Straughen, J., Lennon, D. J., Ciocci, S., Proytcheva, M., German, J. <strong>The Bloom's syndrome gene product is homologous to RecQ helicases.</strong> Cell 83: 655-666, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7585968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7585968</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90105-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7585968">Ellis et al. (1995)</a> suggested that the absence of the RECQL3 gene product probably destabilizes other enzymes that participate in DNA replication and repair, perhaps through direct interaction and through more general responses to DNA damage. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7485150+7585968+8079989" 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="#20" class="mim-tip-reference" title="Ellis, N. A., Proytcheva, M., Sanz, M. M., Ye, T.-Z., German, J. <strong>Transfection of BLM into cultured Bloom syndrome cells reduces the sister-chromatid exchange rate toward normal.</strong> Am. J. Hum. Genet. 65: 1368-1374, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10521302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10521302</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10521302[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/10.1086/302616" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10521302">Ellis et al. (1999)</a> described the effects on the abnormal cellular phenotype of BS, namely an excessive rate of SCE, when normal BLM cDNA was stably transfected into 2 types of BS cells, SV40-transformed fibroblasts and Epstein-Barr virus-transformed lymphoblastoid cells. The experiments proved that BLM cDNA encodes a functional protein capable of restoring to or toward normal the uniquely characteristic high-SCE phenotype of BS cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10521302" 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 patients with Bloom syndrome, <a href="#18" class="mim-tip-reference" title="Ellis, N. A., Groden, J., Ye, T.-Z., Straughen, J., Lennon, D. J., Ciocci, S., Proytcheva, M., German, J. <strong>The Bloom's syndrome gene product is homologous to RecQ helicases.</strong> Cell 83: 655-666, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7585968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7585968</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90105-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7585968">Ellis et al. (1995)</a> identified chain-terminating mutations in the BLM gene. Mutation analysis in 13 unrelated persons with BS identified 7 unique homozygous mutations in the BLM gene in 10 patients (see, e.g., <a href="/entry/604610#0001">604610.0001</a>-<a href="/entry/604610#0002">604610.0002</a>). In 4 persons of Jewish ancestry, a insertion/deletion mutation was identified (<a href="/entry/604610#0001">604610.0001</a>). Homozygosity was predictable because linkage disequilibrium had been detected in Ashkenazi Jews with Bloom syndrome between BLM, D15S127, and FES (<a href="#21" class="mim-tip-reference" title="Ellis, N. A., Roe, A. M., Kozloski, J., Proytcheva, M., Falk, C., German, J. <strong>Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome.</strong> Am. J. Hum. Genet. 55: 453-460, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8079989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8079989</a>]" pmid="8079989">Ellis et al., 1994</a>). Thus, a person who carried this mutation was a founder of Ashkenazi Jewish population and nearly all Ashkenazi Jews with Bloom syndrome inherited the mutation by identity of descent from this common ancestor. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7585968+8079989" 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 patient with Bloom syndrome and both high- and low-SCE cell lines, <a href="#26" class="mim-tip-reference" title="Foucault, F., Vaury, C., Barakat, A., Thibout, D., Planchon, P. Jaulin, C., Praz, F., Amor-Gueret, M. <strong>Characterization of a new BLM mutation associated with a topoisomerase II-alpha defect in a patient with Bloom's syndrome.</strong> Hum. Molec. Genet. 6: 1427-1434, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9285778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9285778</a>] [<a href="https://doi.org/10.1093/hmg/6.9.1427" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9285778">Foucault et al. (1997)</a> identified compound heterozygosity for a cys1036-to-phe (C1036F; <a href="/entry/604610#0004">604610.0004</a>) substitution in the C-terminal region of the peptide and an unidentified mutation affecting expression of the RECQL3 gene. <a href="#26" class="mim-tip-reference" title="Foucault, F., Vaury, C., Barakat, A., Thibout, D., Planchon, P. Jaulin, C., Praz, F., Amor-Gueret, M. <strong>Characterization of a new BLM mutation associated with a topoisomerase II-alpha defect in a patient with Bloom's syndrome.</strong> Hum. Molec. Genet. 6: 1427-1434, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9285778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9285778</a>] [<a href="https://doi.org/10.1093/hmg/6.9.1427" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9285778">Foucault et al. (1997)</a> concluded that somatic intragenic recombination resulted in cells that had an untranscribed allele carrying the 2 parental RECQL3 mutations and a wildtype allele which allowed reversion to the low-SCE phenotype. Topoisomerase II-alpha (<a href="/entry/126430">126430</a>) mRNA and protein levels were decreased in the high-SCE cells, whereas they were normal in the corresponding low-SCE cells. <a href="#26" class="mim-tip-reference" title="Foucault, F., Vaury, C., Barakat, A., Thibout, D., Planchon, P. Jaulin, C., Praz, F., Amor-Gueret, M. <strong>Characterization of a new BLM mutation associated with a topoisomerase II-alpha defect in a patient with Bloom's syndrome.</strong> Hum. Molec. Genet. 6: 1427-1434, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9285778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9285778</a>] [<a href="https://doi.org/10.1093/hmg/6.9.1427" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9285778">Foucault et al. (1997)</a> proposed that in addition to its putative helicase activity, RECQL3 might be involved in transcription regulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9285778" 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="Ababou, M. <strong>Bloom syndrome and the underlying cause of genetic instability.</strong> Molec. Genet. Metab. 133: 35-48, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33736941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33736941</a>] [<a href="https://doi.org/10.1016/j.ymgme.2021.03.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33736941">Ababou (2021)</a> summarized the reported RECQL3 mutations in Bloom syndrome. Of the 151 individual mutations reported, 80 were missense or nonsense, 36 were small or gross deletions, 18 were small or gross insertions, 16 were splicing mutations, and 1 was a small indel. The mutations led either to premature termination of the protein (80% of cases) or to lost helicase activity of the protein (20% of cases). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33736941" 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>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between a Bloom syndrome-like phenotype and variation in the RMI1 gene, see <a href="/entry/610404#0001">610404.0001</a>.</p><p>For discussion of a possible association between a Bloom syndrome-like phenotype and deletion of the RMI2 gene, see <a href="/entry/612426#0001">612426.0001</a>.</p>
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<p><a href="#13" class="mim-tip-reference" title="Chester, N., Kuo, F., Kozak, C., O'Hara, C. D., Leder, P. <strong>Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom's syndrome gene.</strong> Genes Dev. 12: 3382-3393, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9808625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9808625</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9808625[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/10.1101/gad.12.21.3382" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9808625">Chester et al. (1998)</a> found that mouse embryos homozygous for a targeted mutation in the murine Bloom syndrome gene are developmentally delayed and die by embryonic day 13.5. They determined that the interrupted gene is the homolog of the human BLM gene by its homologous sequence, its chromosomal location, and the demonstration of high numbers of sister chromatid exchanges in cultured murine Blm -/- fibroblasts. The proportional dwarfism seen in the human is consistent with the small size and developmental delay (12 to 24 hours) seen during midgestation in murine Blm -/- embryos. The growth retardation in mutant embryos can be accounted for by a wave of increased apoptosis in the epiblast restricted to early postimplantation embryogenesis. Mutant embryos do not survive past day 13.5, and at this time exhibit severe anemia. Red blood cells and their precursors from Blm -/- embryos are heterogeneous in appearance and have increased numbers of macrocytes and micronuclei. Both the apoptotic wave and the appearance of micronuclei in red blood cells are likely cellular consequences of damaged DNA caused by effects on replicating or segregating chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9808625" 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 embryonic stem cell technology, <a href="#50" class="mim-tip-reference" title="Luo, G., Santoro, I. M., McDaniel, L. D., Nishijima, I., Mills, M., Youssoufian, H., Vogel, H., Schultz, R. A., Bradley, A. <strong>Cancer predisposition caused by elevated mitotic recombination in Bloom mice.</strong> Nature Genet. 26: 424-429, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11101838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11101838</a>] [<a href="https://doi.org/10.1038/82548" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11101838">Luo et al. (2000)</a> generated viable Bloom syndrome mice that were prone to a wide variety of cancers. Cell lines from these mice showed elevations in the rates of mitotic recombination. They demonstrated that the increased rate of loss of heterozygosity resulting from mitotic recombination in vivo constituted the underlying mechanism causing tumor susceptibility in these mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11101838" 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="#81" class="mim-tip-reference" title="Willis, A. E., Lindahl, T. <strong>DNA ligase I deficiency in Bloom's syndrome.</strong> Nature 325: 355-357, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3808031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3808031</a>] [<a href="https://doi.org/10.1038/325355a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3808031">Willis and Lindahl (1987)</a> and <a href="#11" class="mim-tip-reference" title="Chan, J. Y. H., Becker, F. F., German, J., Ray, J. H. <strong>Altered DNA ligase I activity in Bloom's syndrome cells.</strong> Nature 325: 357-359, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3808032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3808032</a>] [<a href="https://doi.org/10.1038/325357a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3808032">Chan et al. (1987)</a> independently demonstrated an abnormality of DNA ligase I (<a href="/entry/126391">126391</a>) in Bloom syndrome. DNA ligase I and DNA polymerase alpha (<a href="/entry/312040">312040</a>) are enzymes that function during DNA replication; DNA ligase II and DNA polymerase beta (<a href="/entry/174760">174760</a>) function during DNA repair. That the primary defect resides in the structural gene for DNA ligase I was suggested by the changes in the physical properties of the enzyme, specifically, heat sensitivity (<a href="#81" class="mim-tip-reference" title="Willis, A. E., Lindahl, T. <strong>DNA ligase I deficiency in Bloom's syndrome.</strong> Nature 325: 355-357, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3808031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3808031</a>] [<a href="https://doi.org/10.1038/325355a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3808031">Willis and Lindahl, 1987</a>) and altered aggregation properties (<a href="#11" class="mim-tip-reference" title="Chan, J. Y. H., Becker, F. F., German, J., Ray, J. H. <strong>Altered DNA ligase I activity in Bloom's syndrome cells.</strong> Nature 325: 357-359, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3808032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3808032</a>] [<a href="https://doi.org/10.1038/325357a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3808032">Chan et al., 1987</a>). Experiments with a fibroblast line derived from a Japanese case of Bloom syndrome showed that DNA ligase I from that source was not obviously heat sensitive or present in reduced amounts. <a href="#12" class="mim-tip-reference" title="Chan, J. Y.-H., Becker, F. F. <strong>Defective DNA ligase I in Bloom's syndrome cells: simultaneous analysis using immunoblotting and the ligase-(32-P)AMP adduct assay.</strong> J. Biol. Chem. 263: 18231-18235, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3192533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3192533</a>]" pmid="3192533">Chan and Becker (1988)</a> also came to the conclusion that mutation of the DNA ligase I gene may account for the primary metabolic defect in Bloom syndrome. Their data suggested that the defect in DNA ligase I is not due to a reduction in the number of protein molecules or to inhibitory substances but rather, at least in part, to the ATP binding and/or hydrolytic activity of the enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3808031+3192533+3808032" 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="Willis, A. E., Weksberg, R., Tomlinson, S., Lindahl, T. <strong>Structural alterations of DNA ligase I in Bloom syndrome.</strong> Proc. Nat. Acad. Sci. 84: 8016-8020, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3479778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3479778</a>] [<a href="https://doi.org/10.1073/pnas.84.22.8016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3479778">Willis et al. (1987)</a> found that all cell lines derived from 7 patients with Bloom syndrome contained a DNA ligase I with unusual properties. In 6 lines the enzyme activity was reduced and the residual enzyme was anomalously heat-labile. In the seventh line, they found a dimeric rather than a monomeric form of ligase I. Several cell lines representative of other inherited disorders had apparently normal DNA ligases. The data were interpreted as indicating that BLM is due to a defect in the structure of DNA ligase I caused by a 'leaky' point mutation occurring at one of at least 2 alternative sites. If the primary defect lies in the structural gene for DNA ligase I, then <a href="#3" class="mim-tip-reference" title="Barnes, D. E., Johnston, L. H., Kodama, K., Tomkinson, A. E., Lasko, D. D., Lindahl, T. <strong>Human DNA ligase I cDNA: cloning and functional expression in Saccharomyces cerevisiae.</strong> Proc. Nat. Acad. Sci. 87: 6679-6683, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2204063/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2204063</a>] [<a href="https://doi.org/10.1073/pnas.87.17.6679" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2204063">Barnes et al. (1990)</a> reasoned that the mutation for Bloom syndrome is on chromosome 19, which encodes DNA ligase I. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3479778+2204063" 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>Since alteration of the DNA ligase I activity is a consistent biochemical feature of Bloom syndrome cells, <a href="#58" class="mim-tip-reference" title="Petrini, J. H. J., Huwiler, K. G., Weaver, D. T. <strong>A wild-type DNA ligase I gene is expressed in Bloom's syndrome cells.</strong> Proc. Nat. Acad. Sci. 88: 7615-7619, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1881902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1881902</a>] [<a href="https://doi.org/10.1073/pnas.88.17.7615" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1881902">Petrini et al. (1991)</a> cloned DNA ligase I cDNA from normal human cells. Human DNA ligase I cDNAs from normal and BS cells complemented an S. cerevisiae DNA ligase mutation, and protein extracts prepared from S. cerevisiae transformants expressing normal and BS cDNA contained comparable levels of DNA ligase I activity. DNA sequencing and Northern blot analysis of DNA ligase I expression in 2 BS fibroblast lines representing each of 2 aberrant DNA ligase I molecular phenotypes demonstrated that the gene was unchanged in BS cells. Thus, a factor other than mutation in the ligase I gene must be involved as the basic defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1881902" 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="#54" class="mim-tip-reference" title="Nicotera, T. M., Notaro, J., Notaro, S., Schumer, J., Sandberg, A. A. <strong>Elevated superoxide dismutase in Bloom's syndrome: a genetic condition of oxidative stress.</strong> Cancer Res. 49: 5239-5243, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2766291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2766291</a>]" pmid="2766291">Nicotera et al. (1989)</a> suggested that the major biochemical defect in Bloom syndrome is chronic overproduction of the superoxide radical anion. They thought that inefficient removal of peroxide might be responsible for high rates of sister chromatid exchange and chromosomal damage in Bloom syndrome cells. <a href="#65" class="mim-tip-reference" title="Seal, G., Brech, K., Karp, S. J., Cool, B. L., Sirover, M. A. <strong>Immunological lesions in human uracil DNA glycosylase: association with Bloom syndrome.</strong> Proc. Nat. Acad. Sci. 85: 2339-2343, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3353381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3353381</a>] [<a href="https://doi.org/10.1073/pnas.85.7.2339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3353381">Seal et al. (1988)</a> described a monoclonal antibody, defined by enzyme-linked immunosorbent assay (ELISA), that reacted with normal uracil DNA glycosylase (<a href="/entry/191525">191525</a>) of human placenta as well as with the glycosylases from normal human cell types and 13 abnormal human cell strains. On the other hand, the antibody neither recognized nor inhibited native uracil DNA glycosylase from any of 5 separate Bloom syndrome cell strains. Lack of immunoreactivity with this antibody, which the authors designated 40.10.09, was suggested as a test for the early diagnosis of Bloom syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3353381+2766291" 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="Ferrara, A., Fontana, V. J., Numsen, G. <strong>Bloom's syndrome in Oriental male.</strong> New York J. Med. 67: 3258-3262, 1967."None>Ferrara et al. (1967)</a> reported Bloom syndrome in a 'Chinese-American'; however, the diagnosis was later (<a href="#24" class="mim-tip-reference" title="Ferrara, A. <strong>Goltz's syndrome. (Letter)</strong> Am. J. Dis. Child. 123: 263, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4337297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4337297</a>] [<a href="https://doi.org/10.1001/archpedi.1972.02110090133024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4337297">Ferrara, 1972</a>) revised to focal dermal hypoplasia (<a href="/entry/305600">305600</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4337297" 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="#75" class="mim-tip-reference" title="Thompson, L. H., Brookman, K. W., Dillehay, L. E., Carrano, A. V., Mazrimas, J. A., Mooney, C. L., Minkler, J. L. <strong>A CHO-cell strain having hypersensitivity to mutagens, a defect in DNA strand-break repair, and an extraordinary baseline frequency of sister-chromatid exchange.</strong> Mutat. Res. 95: 427-440, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6889677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6889677</a>] [<a href="https://doi.org/10.1016/0027-5107(82)90276-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6889677">Thompson et al. (1982)</a> found greatly increased sister chromatid exchanges in a mutant Chinese hamster ovary (CHO) cell line (EM9) with a DNA repair deficiency (see <a href="/entry/126340">126340</a>). The deficiency was complemented in human-CHO somatic cell hybrids by human chromosome 19. The mapping of Bloom syndrome to chromosome 15 excluded the possibility that this was the Bloom syndrome defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6889677" 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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<a href="#Arase1980" class="mim-tip-reference" title="Arase, S., Takahashi, O., Ishizaki, K., Takebe, H. <strong>Bloom's syndrome in a Japanese boy with lymphoma.</strong> Clin. Genet. 18: 123-127, 1980.">Arase et al. (1980)</a>; <a href="#Bloom1966" class="mim-tip-reference" title="Bloom, D. <strong>The syndrome of congenital telangiectatic erythema and stunted growth.</strong> J. Pediat. 68: 103-113, 1966.">Bloom (1966)</a>; <a href="#Bryant1979" class="mim-tip-reference" title="Bryant, E. M., Hoehn, H., Martin, G. M. <strong>Normalisation of sister chromatid exchange frequencies in Bloom's syndrome by euploid cell hybridization.</strong> Nature 279: 795-796, 1979.">Bryant et al. (1979)</a>; <a href="#Cerutti1981" class="mim-tip-reference" title="Cerutti, P., Emerit, I., Hirschi, M., Zbinden, I. <strong>Bloom's syndrome: a deficiency in the detoxification of active oxygen species? (Abstract)</strong> Europ. J. Cancer Clin. Oncol. 17: 938, 1981.">Cerutti et
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al. (1981)</a>; <a href="#Chaganti1974" class="mim-tip-reference" title="Chaganti, R. S. K., Schonberg, S., German, J. <strong>A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes.</strong> Proc. Nat. Acad. Sci. 71: 4508-4512, 1974.">Chaganti et al. (1974)</a>; <a href="#Ellis1998" class="mim-tip-reference" title="Ellis, N. A., Ciocci, S., Proytcheva, M., Lennon, D., Groden, J., German, J. <strong>The Ashkenazic Jewish Bloom syndrome mutation blm(Ash) is present in non-Jewish Americans of Spanish ancestry.</strong> Am. J. Hum. Genet. 63: 1685-1693, 1998.">Ellis et al. (1998)</a>; <a href="#Ellis1996" class="mim-tip-reference" title="Ellis, N. A., Lennon, D. J., Proytcheva, M., Alhadeff, B., Henderson, E. E., German, J. <strong>Somatic intragenic recombination within the mutated locus BLM can correct the high SCE phenotype of Bloom syndrome cells.</strong> Am. J. Hum. Genet. 57: 1019-1027, 1995. Note: Erratum: Am. J. Hum. Genet. 58: 254 only, 1996.">Ellis and
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German (1996)</a>; <a href="#German1974" class="mim-tip-reference" title="German, J., Crippa, L. P., Bloom, D. <strong>Bloom's syndrome. III. Analysis of the chromosome aberration characteristic of this disorder.</strong> Chromosoma 48: 361-366, 1974.">German et al. (1974)</a>; <a href="#German1977" class="mim-tip-reference" title="German, J., Schonberg, S., Louie, E., Chaganti, R. S. K. <strong>Bloom's syndrome. IV. Sister chromatid exchanges in lymphocytes.</strong> Am. J. Hum. Genet. 29: 248-255, 1977.">German et al. (1977)</a>; <a href="#German1992" class="mim-tip-reference" title="German, J. <strong>Personal Communication.</strong> New York, N. Y. 11/12/1992.">German
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(1992)</a>; <a href="#Hutteroth1975" class="mim-tip-reference" title="Hutteroth, T. H., Litwin, S. D., German, J. <strong>Abnormal immune responses of Bloom's syndrome lymphocytes in vitro.</strong> J. Clin. Invest. 56: 1-7, 1975.">Hutteroth et al. (1975)</a>; <a href="#Kawashima1980" class="mim-tip-reference" title="Kawashima, H., Sato, T., Taniguchi, N., Yagi, T., Ishizaki, K., Takebe, H. <strong>Bloom's syndrome in a Japanese girl.</strong> Clin. Genet. 17: 143-148, 1980.">Kawashima et al. (1980)</a>; <a href="#Kuhn1981" class="mim-tip-reference" title="Kuhn, E. M. <strong>A high incidence of mitotic chiasmata in endoreduplicated Bloom's syndrome cells.</strong> Hum. Genet. 58: 417-421, 1981.">Kuhn
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(1981)</a>; <a href="#Leroux1984" class="mim-tip-reference" title="Leroux, D., Chmara, D., Jalbert, P. <strong>Bloom's syndrome: in vitro correction of the sister chromatid exchange rate by normal cells.</strong> Cancer Genet. Cytogenet. 12: 139-143, 1984.">Leroux et al. (1984)</a>; <a href="#Lindor2000" class="mim-tip-reference" title="Lindor, N. M., Furuichi, Y., Kitao, S., Shimamoto, A., Arndt, C., Jalal, S. <strong>Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.</strong> Am. J. Med. Genet. 90: 223-228, 2000.">Lindor et al. (2000)</a>; <a href="#Oddoux1999" class="mim-tip-reference" title="Oddoux, C., Clayton, C. M., Nelson, H. R., Ostrer, H. <strong>Prevalence of Bloom syndrome heterozygotes among Ashkenazi Jews. (Letter)</strong> Am. J. Hum. Genet. 64: 1241-1243, 1999.">Oddoux et al.
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(1999)</a>; <a href="#Rosin1985" class="mim-tip-reference" title="Rosin, M. P., German, J. <strong>Evidence for chromosome instability in vivo in Bloom syndrome: increased numbers of micronuclei in exfoliated cells.</strong> Hum. Genet. 71: 187-191, 1985.">Rosin and German (1985)</a>; <a href="#Sawitsky1966" class="mim-tip-reference" title="Sawitsky, A., Bloom, D., German, J. <strong>Chromosomal breakage and acute leukemia in congenital telangiectatic erythema and stunted growth.</strong> Ann. Intern. Med. 65: 487-495, 1966.">Sawitsky et al. (1966)</a>; <a href="#Schmidt-Preuss1981" class="mim-tip-reference" title="Schmidt-Preuss, U., Maack, P., Bartram, C. R., Rudiger, H. W. <strong>Mutagen-induced sister chromatid exchange rate in Bloom syndrome remains unaltered in the presence of Bloom corrective factor.</strong> Hum. Genet. 58: 432-433, 1981.">Schmidt-Preuss et al. (1981)</a>; <a href="#Siciliano1983" class="mim-tip-reference" title="Siciliano, M. J., Stallings, R. L., Adair, G. M., Humphrey, R. M., Siciliano, J. <strong>Provisional assignment of TPI, GPI, and PEPD to Chinese hamster autosomes 8 and 9: a cytogenetic basis for functional haploidy of an autosomal linkage group in CHO cells.</strong> Cytogenet. Cell Genet. 35: 15-20, 1983.">Siciliano et al. (1983)</a>; <a href="#Straughen1998" class="mim-tip-reference" title="Straughen, J. E., Johnson, J., McLaren, D., Proytcheva, M., Ellis, N., German, J., Groden, J. <strong>A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene.</strong> Hum. Mutat. 11: 175-178, 1998.">Straughen et
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<span class="mim-font">
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<strong>REFERENCES</strong>
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<a id="Ababou2021" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1016/j.ymgme.2021.03.003" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1980.tb01022.x" target="_blank">Full Text</a>]
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<a id="Barnes1990" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1073/pnas.87.17.6679" target="_blank">Full Text</a>]
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<a id="Bartram1981" class="mim-anchor"></a>
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<a id="Ben-Sasson1985" class="mim-anchor"></a>
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Ben-Sasson, S. A., Cohen, T., Voss, R.
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[<a href="https://doi.org/10.1016/0165-4608(85)90167-0" target="_blank">Full Text</a>]
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<a id="Bloom1966" class="mim-anchor"></a>
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Bloom, D.
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[<a href="https://doi.org/10.1016/s0022-3476(66)80426-2" target="_blank">Full Text</a>]
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<a id="Bryant1979" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1038/279795a0" target="_blank">Full Text</a>]
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<a id="Cairney1987" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1016/s0022-3476(87)80469-9" target="_blank">Full Text</a>]
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<a id="Cerutti1981" class="mim-anchor"></a>
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Cerutti, P., Emerit, I., Hirschi, M., Zbinden, I.
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[<a href="https://doi.org/10.1073/pnas.71.11.4508" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1101/gad.12.21.3382" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/302167" target="_blank">Full Text</a>]
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<a id="Ellis1996" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1093/hmg/5.supplement_1.1457" target="_blank">Full Text</a>]
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<a id="Ellis1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ellis, N. A., Groden, J., Ye, T.-Z., Straughen, J., Lennon, D. J., Ciocci, S., Proytcheva, M., German, J.
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<strong>The Bloom's syndrome gene product is homologous to RecQ helicases.</strong>
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Cell 83: 655-666, 1995.
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[<a href="https://doi.org/10.1016/0092-8674(95)90105-1" target="_blank">Full Text</a>]
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<a id="19" class="mim-anchor"></a>
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<a id="Ellis1995" class="mim-anchor"></a>
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<div class="">
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Ellis, N. A., Lennon, D. J., Proytcheva, M., Alhadeff, B., Henderson, E. E., German, J.
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<strong>Somatic intragenic recombination within the mutated locus BLM can correct the high SCE phenotype of Bloom syndrome cells.</strong>
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Am. J. Hum. Genet. 57: 1019-1027, 1995. Note: Erratum: Am. J. Hum. Genet. 58: 254 only, 1996.
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<a id="Ellis1999" class="mim-anchor"></a>
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<strong>Transfection of BLM into cultured Bloom syndrome cells reduces the sister-chromatid exchange rate toward normal.</strong>
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Am. J. Hum. Genet. 65: 1368-1374, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10521302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10521302</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10521302[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10521302" 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/10.1086/302616" target="_blank">Full Text</a>]
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<a id="21" class="mim-anchor"></a>
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<a id="Ellis1994" class="mim-anchor"></a>
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<div class="">
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Ellis, N. A., Roe, A. M., Kozloski, J., Proytcheva, M., Falk, C., German, J.
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<strong>Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome.</strong>
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Am. J. Hum. Genet. 55: 453-460, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8079989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8079989</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8079989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<a id="22" class="mim-anchor"></a>
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<a id="Ellis1992" class="mim-anchor"></a>
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<strong>Homozygosity mapping of the Bloom's syndrome locus. (Abstract)</strong>
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Am. J. Hum. Genet. 51 (suppl.): A187, 1992.
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<a id="Ferrara1967" class="mim-anchor"></a>
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Ferrara, A., Fontana, V. J., Numsen, G.
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<strong>Bloom's syndrome in Oriental male.</strong>
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New York J. Med. 67: 3258-3262, 1967.
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[<a href="https://doi.org/10.1001/archpedi.1972.02110090133024" target="_blank">Full Text</a>]
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<a id="Festa1979" class="mim-anchor"></a>
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Festa, R. S., Meadows, A. T., Boshes, R. A.
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<strong>Leukemia in a black child with Bloom syndrome.</strong>
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Cancer 44: 1507-1510, 1979.
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[<a href="https://doi.org/10.1002/1097-0142(197910)44:4<1507::aid-cncr2820440448>3.0.co;2-a" target="_blank">Full Text</a>]
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<a id="Foucault1997" class="mim-anchor"></a>
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<div class="">
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<strong>Characterization of a new BLM mutation associated with a topoisomerase II-alpha defect in a patient with Bloom's syndrome.</strong>
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Hum. Molec. Genet. 6: 1427-1434, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9285778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9285778</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9285778" 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/10.1093/hmg/6.9.1427" target="_blank">Full Text</a>]
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</p>
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<a id="27" class="mim-anchor"></a>
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<a id="German1965" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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German, J., Archibald, R., Bloom, D.
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<strong>Chromosomal breakage in a rare and probably genetically determined syndrome of man.</strong>
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Science 148: 506-507, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14263770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14263770</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14263770" 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/10.1126/science.148.3669.506" target="_blank">Full Text</a>]
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<li>
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<a id="28" class="mim-anchor"></a>
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<a id="German1977" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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German, J., Bloom, D., Passarge, E., Fried, K., Goodman, R. M., Katzenellenbogen, I., Larson, Z., Legum, C., Levine, S., Wahrman, J.
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<strong>Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim.</strong>
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Am. J. Hum. Genet. 29: 553-562, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/930922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">930922</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=930922" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<a id="29" class="mim-anchor"></a>
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<a id="German1979" class="mim-anchor"></a>
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<p class="mim-text-font">
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German, J., Bloom, D., Passarge, E.
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<strong>Bloom's syndrome. VII. Progress report for 1978.</strong>
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Clin. Genet. 15: 361-367, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/436333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">436333</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=436333" 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/10.1111/j.1399-0004.1979.tb01747.x" target="_blank">Full Text</a>]
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<a id="30" class="mim-anchor"></a>
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<a id="German1984" class="mim-anchor"></a>
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<p class="mim-text-font">
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German, J., Bloom, D., Passarge, E.
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<strong>Bloom's syndrome XI. Progress report for 1983.</strong>
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Clin. Genet. 25: 166-174, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6705251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6705251</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6705251" 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/10.1111/j.1399-0004.1984.tb00480.x" target="_blank">Full Text</a>]
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<a id="31" class="mim-anchor"></a>
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<a id="German1974" class="mim-anchor"></a>
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<p class="mim-text-font">
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German, J., Crippa, L. P., Bloom, D.
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<strong>Bloom's syndrome. III. Analysis of the chromosome aberration characteristic of this disorder.</strong>
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Chromosoma 48: 361-366, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4448109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4448109</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4448109" 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/10.1007/BF00290993" target="_blank">Full Text</a>]
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<a id="32" class="mim-anchor"></a>
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<a id="German1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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German, J., Roe, A. M., Leppert, M. F., Ellis, N. A.
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<strong>Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1.</strong>
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Proc. Nat. Acad. Sci. 91: 6669-6673, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8022833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8022833</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8022833" 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/10.1073/pnas.91.14.6669" target="_blank">Full Text</a>]
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<a id="33" class="mim-anchor"></a>
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<a id="German1977" class="mim-anchor"></a>
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<p class="mim-text-font">
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German, J., Schonberg, S., Louie, E., Chaganti, R. S. K.
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<strong>Bloom's syndrome. IV. Sister chromatid exchanges in lymphocytes.</strong>
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Am. J. Hum. Genet. 29: 248-255, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/868871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">868871</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=868871" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="34" class="mim-anchor"></a>
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<a id="German1989" class="mim-anchor"></a>
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German, J., Takebe, H.
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<strong>Bloom's syndrome. XIV. The disorder in Japan.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2721026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2721026</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2721026" 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/10.1111/j.1399-0004.1989.tb02913.x" target="_blank">Full Text</a>]
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<a id="35" class="mim-anchor"></a>
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<a id="German1969" class="mim-anchor"></a>
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German, J.
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<strong>Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients.</strong>
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[<a href="https://doi.org/10.1086/302312" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320400314" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.88.17.7615" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0165-4608(01)00392-2" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00284570" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.7326/0003-4819-65-3-487" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00282831" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00336905" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.85.7.2339" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000131830" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/geno.1996.0330" target="_blank">Full Text</a>]
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Harbor City, Calif. 5/28/1978.
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</p>
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</div>
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<a id="74" class="mim-anchor"></a>
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<a id="Therman1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Therman, E., Otto, P. G., Shahidi, N. T.
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|
<strong>Mitotic recombination and segregation of satellites in Bloom's syndrome.</strong>
|
|
Chromosoma 82: 627-636, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7261713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7261713</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7261713" 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/10.1007/BF00285772" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="75" class="mim-anchor"></a>
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<a id="Thompson1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Thompson, L. H., Brookman, K. W., Dillehay, L. E., Carrano, A. V., Mazrimas, J. A., Mooney, C. L., Minkler, J. L.
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|
<strong>A CHO-cell strain having hypersensitivity to mutagens, a defect in DNA strand-break repair, and an extraordinary baseline frequency of sister-chromatid exchange.</strong>
|
|
Mutat. Res. 95: 427-440, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6889677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6889677</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6889677" 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/10.1016/0027-5107(82)90276-7" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="76" class="mim-anchor"></a>
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<a id="van Buul1978" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
van Buul, P. P. W., Natarajan, A. T., Verdegaal-Immerzeel, E. A. M.
|
|
<strong>Suppression of the frequencies of sister chromatid exchanges in Bloom's syndrome fibroblasts by co-cultivation by Chinese hamster cells.</strong>
|
|
Hum. Genet. 44: 187-189, 1978.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/730162/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">730162</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=730162" 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/10.1007/BF00295412" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="77" class="mim-anchor"></a>
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<a id="Van Kerckhove1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Van Kerckhove, C. W., Ceuppens, J. L., Vanderschueren-Lodeweyckx, M., Eggermont, E., Vertessen, S., Stevens, E. A. M.
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|
<strong>Bloom's syndrome: clinical features and immunologic abnormalities of four patients.</strong>
|
|
Am. J. Dis. Child. 142: 1089-1093, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3263039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3263039</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3263039" 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/10.1001/archpedi.1988.02150100083032" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="78" class="mim-anchor"></a>
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<a id="Vijayalaxmi1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vijayalaxmi, (NI), Evans, H. J., Ray, J. H., German, J.
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<strong>Bloom's syndrome: evidence for an increased mutation frequency in vivo.</strong>
|
|
Science 221: 851-853, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6879180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6879180</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6879180" 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/10.1126/science.6879180" target="_blank">Full Text</a>]
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</p>
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<a id="79" class="mim-anchor"></a>
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<a id="Warren1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Warren, S. T., Schultz, R. A., Chang, C.-C., Wade, M. H., Trosko, J. E.
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<strong>Elevated spontaneous mutation rate in Bloom syndrome fibroblasts.</strong>
|
|
Proc. Nat. Acad. Sci. 78: 3133-3137, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6942420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6942420</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6942420" 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/10.1073/pnas.78.5.3133" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="80" class="mim-anchor"></a>
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<a id="Weksberg1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weksberg, R., Smith, C., Anson-Cartwright, L., Maloney, K.
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<strong>Bloom syndrome: a single complementation group defines patients of diverse ethnic origin.</strong>
|
|
Am. J. Hum. Genet. 42: 816-824, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3163468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3163468</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3163468" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<li>
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<a id="81" class="mim-anchor"></a>
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<a id="Willis1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Willis, A. E., Lindahl, T.
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<strong>DNA ligase I deficiency in Bloom's syndrome.</strong>
|
|
Nature 325: 355-357, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3808031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3808031</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3808031" 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/10.1038/325355a0" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="82" class="mim-anchor"></a>
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<a id="Willis1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Willis, A. E., Weksberg, R., Tomlinson, S., Lindahl, T.
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<strong>Structural alterations of DNA ligase I in Bloom syndrome.</strong>
|
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Proc. Nat. Acad. Sci. 84: 8016-8020, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3479778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3479778</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3479778" 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/10.1073/pnas.84.22.8016" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="83" class="mim-anchor"></a>
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<a id="Woodage1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Woodage, T., Prasad, M., Dixon, J. W., Selby, R. E., Romain, D. R., Columbano-Green, L. M., Graham, D., Rogan, P. K., Seip, J. R., Smith, A., Trent, R. J.
|
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<strong>Bloom syndrome and maternal uniparental disomy for chromosome 15.</strong>
|
|
Am. J. Hum. Genet. 55: 74-80, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7912890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7912890</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7912890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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</ol>
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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="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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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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Carol A. Bocchini - updated : 03/20/2024
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</span>
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</div>
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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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Hilary J. Vernon - updated : 05/28/2021<br>Cassandra L. Kniffin - updated : 08/28/2018<br>Marla J. F. O'Neill - updated : 12/22/2004<br>Ada Hamosh - updated : 5/29/2003<br>Victor A. McKusick - updated : 10/9/2001<br>Sonja A. Rasmussen - updated : 8/23/2001<br>Victor A. McKusick - updated : 11/22/2000<br>Ada Hamosh - updated : 7/20/2000<br>Victor A. McKusick - updated : 2/23/2000<br>Victor A. McKusick - updated : 11/15/1999<br>Victor A. McKusick - updated : 6/2/1999<br>Victor A. McKusick - updated : 4/8/1999<br>Victor A. McKusick - updated : 1/11/1999<br>Victor A. McKusick - updated : 8/28/1997<br>Moyra Smith - updated : 1/2/1997<br>Lori M. Kelman - updated : 8/22/1996
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</span>
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</div>
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</div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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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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Victor A. McKusick : 6/3/1986
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </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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alopez : 09/05/2024
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 03/20/2024<br>carol : 07/17/2023<br>carol : 08/29/2022<br>carol : 08/25/2022<br>carol : 08/24/2022<br>carol : 08/23/2022<br>carol : 08/22/2022<br>carol : 05/28/2021<br>carol : 08/30/2018<br>ckniffin : 08/28/2018<br>alopez : 06/15/2018<br>carol : 09/08/2016<br>carol : 06/15/2016<br>terry : 3/14/2013<br>carol : 8/31/2009<br>carol : 1/12/2005<br>terry : 12/22/2004<br>carol : 6/17/2004<br>alopez : 5/29/2003<br>alopez : 5/29/2003<br>joanna : 11/1/2002<br>carol : 11/12/2001<br>mcapotos : 10/23/2001<br>terry : 10/9/2001<br>mcapotos : 8/30/2001<br>mcapotos : 8/23/2001<br>joanna : 1/17/2001<br>carol : 11/28/2000<br>terry : 11/22/2000<br>mcapotos : 8/1/2000<br>mcapotos : 7/26/2000<br>terry : 7/20/2000<br>alopez : 2/25/2000<br>terry : 2/23/2000<br>mgross : 11/19/1999<br>terry : 11/15/1999<br>carol : 6/8/1999<br>jlewis : 6/8/1999<br>jlewis : 6/8/1999<br>terry : 6/2/1999<br>terry : 4/9/1999<br>carol : 4/8/1999<br>carol : 1/18/1999<br>terry : 1/11/1999<br>alopez : 12/15/1998<br>carol : 10/21/1998<br>terry : 6/3/1998<br>alopez : 3/26/1998<br>terry : 3/20/1998<br>mark : 8/28/1997<br>terry : 8/28/1997<br>terry : 1/2/1997<br>terry : 10/2/1996<br>mark : 8/22/1996<br>terry : 8/22/1996<br>mark : 8/21/1996<br>terry : 3/26/1996<br>mark : 12/14/1995<br>mark : 12/14/1995<br>terry : 12/14/1995<br>mark : 6/11/1995<br>pfoster : 4/14/1995<br>terry : 10/31/1994<br>davew : 6/1/1994<br>mimadm : 4/19/1994<br>warfield : 4/14/1994
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</span>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 210900
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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BLOOM SYNDROME; BLM
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<div>
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<br />
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<div >
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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BS; BLS<br />
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MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 1; MGRISCE1
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</span>
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</h4>
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<strong>SNOMEDCT:</strong> 4434006;
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<strong>ORPHA:</strong> 125;
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<strong>DO:</strong> 2717;
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</span>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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15q26.1
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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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Bloom syndrome
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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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210900
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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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Autosomal recessive
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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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3
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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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RECQL3
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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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604610
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</span>
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</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>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</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>A number sign (#) is used with this entry because Bloom syndrome (BLM), also referred to here as microcephaly, growth restriction, and increased sister chromatid exchange-1 (MGRISCE1), is caused by homozygous or compound heterozygous mutation in the RECQL3 gene (BLM; 604610) on chromosome 15q26.</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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<h4>
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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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<span class="mim-text-font">
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<p>Bloom syndrome (BLM) is an autosomal recessive disorder characterized by prenatal and postnatal growth deficiency; photosensitive skin changes; immune deficiency; insulin resistance; increased risk for diabetes; greatly increased risk of early onset of cancer and for the development of multiple cancers; and chromosomal instability (summary by Cunniff et al., 2017). </p><p><strong><em>Genetic Heterogeneity of Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange</em></strong></p><p>
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See also MGRISCE2 (618097), caused by mutation in the TOP3A gene (601243) on chromosome 17p12.</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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<h4>
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<span class="mim-font">
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<strong>Clinical Features</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>German et al. (1977) found that, in Israel, Bloom syndrome occurred only in Ashkenazi Jews. German et al. (1984) stated that the Bloom Syndrome Registry had information on 103 patients, only 45 of whom had been reported in the literature. Noteworthy was the occurrence of BS in 7 Japanese patients. Eighty of the 103 patients were alive, with a mean age of 18.2 years. Twenty-eight malignant neoplasms had been detected, at a mean age of 20.7 years. </p><p>German and Takebe (1989) suggested that differences in skin pigmentation in various ethnic groups may confer a degree of protection against actinic radiation and thus obscure one of the characteristic facial signs of Bloom syndrome, i.e., telangiectasia. As a result, Bloom syndrome may be underdiagnosed in some populations. </p><p>Van Kerckhove et al. (1988) found a specific defect in the pokeweed mitogen-induced alternative pathway of lymphocyte activation in patients with Bloom syndrome. </p><p>Legum et al. (1991) described an affected Iranian Jewish male, possibly the first definite non-Ashkenazi Jewish patient reported in the literature. The patient had another unique complication, cardiomyopathy. </p><p>The 14 Japanese cases reported by German and Takebe (1989) differed somewhat from most cases recognized elsewhere in that dolichocephaly was a less constant feature, the facial skin lesions were less prominent, and life-threatening infections were less frequent. The characteristic predisposition to neoplasia, as well as the probable tendency to diabetes mellitus, was found, however. German (1990) stated that diabetes mellitus of maturity-onset type, developing, however, in the second or third decade, is proving to be a frequent feature. Mori et al. (1990) reported diabetes mellitus in Bloom syndrome. </p><p>Szalay and Weinstein (1972) reported what they considered to be the first case of Bloom syndrome in a black patient. The 13-year-old female had sensitivity to sunlight and stunted growth from birth, but did not have telangiectatic erythema. Her parents were consanguineous, and she had chromosomal alterations. German (Szalay, 1978) confirmed the diagnosis of Bloom syndrome in this patient. </p><p>German (1988) stated that the longest survival known to him is that of a man who died of esophageal cancer at the age of 48 years, having survived sigmoid cancer which had occurred 10 years earlier. Almost 150 cases worldwide had been cataloged by German (1990); he had personally examined 96 of these patients. Jewish patients represented 32% of the group, all but 1 of them being Ashkenazi. Complementation studies using sister chromatid exchange (SCE) as the measure of cross-correction indicate that this is one disease. Parental consanguinity was identified in 2 of 36 Jewish cases and in 25 of 75 non-Jewish cases. Heterozygotes do not show increased sister chromatid exchanges. German (1990) has not found an increased frequency of cancer in obligatory heterozygotes.</p><p>Passarge (1991) observed 10 patients in Germany during a 20-year period. One patient died at the age of 5 years of acute leukemia, a second at the age of 18 years of pulmonary fibrosis and bronchiectasis, and a third at the age of 21 years of Hodgkin lymphoma and subsequently leukemia. </p><p>German (1992) reported that there were 132 cases in the Bloom Syndrome Registry as of January 1, 1990. One hundred and twenty seven had survived infancy. In all, 93 were still alive. Of the 39 deceased patients, 31 had died of cancer at a mean age of 27.8; cancer had been diagnosed at ages ranging from 4 years to 46 years. Of the 46 cancer patients, 14 had more than 1 primary, 2 had more than 2 primaries, and 1 had more than 3 primaries.</p><p>Chisholm et al. (2001) reported a 19-year-old woman with typical clinical features of Bloom syndrome with a successful pregnancy. Because of her small pelvis on clinical examination, the patient underwent computed tomography pelvimetry, which showed adequate pelvic capacity. Preterm labor occurred at 32 weeks' gestation, and the infant was ultimately delivered at 35 weeks' gestation. The infant was less than the tenth percentile for length and weight for gestational age, but was otherwise healthy. Since preterm labor had occurred in this and a previously reported pregnancy in Bloom syndrome (Mulcahy and French, 1981), Chisholm et al. (2001) suggested increased surveillance for preterm labor in pregnancies of women with Bloom syndrome. </p><p>Cunniff et al. (2017) noted that males with Bloom syndrome are invariably infertile and have been found to have azoospermia or severe oligospermia. Affected females have delayed puberty and early menopause. </p><p>In a review of Bloom syndrome, Ababou (2021) summarized 277 cancers diagnosed in 145 patients reported in the Bloom Syndrome Registry from 1954 to 2018. Seventy-seven hematologic malignancies were reported, with lymphoma being the most frequently reported in this category (37 cases), followed by acute myeloid leukemia (17 cases). Carcinomas were reported 130 times, with colorectal being the most frequently reported in this category (28 cases), followed by breast cancer (24 cases) and basal cell carcinoma (13 cases). Among the 20 rare tumor cases, Wilms tumor was reported 8 times. </p><p>In a review of cancer diagnosis and survival among 290 individuals in the Bloom Syndrome Registry, Sugranes et al. (2022) found that the median time to first malignancy of any type was 29 years. The median survival for all individuals in the registry was 36.2 years, whereas the median for those with a malignancy was 34.1 years. Median survival was 25.4 years in those with a hematologic malignancy compared to 37.7 years in those with a solid tumor. There were no significant differences in time to first cancer diagnosis or survival by genotype. </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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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</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>Landau et al. (1966) described a patient with Bloom syndrome whose parents were second cousins and who showed low gamma-A and gamma-M serum proteins. </p><p>Vijayalaxmi et al. (1983) found that lymphocytes from patients with Bloom syndrome showed an incidence of cell resistance to the purine analog 6-thioguanine about 8 times the normal. Cells with specific locus mutations have been reported to be present in abnormally great numbers in BS fibroblast cultures, e.g., 6-thioguanine-resistant and diphtheria toxin-resistant cells. </p><p>Seal et al. (1991) compared the uracil DNA glycosylase from 2 nontransformed cell strains derived from persons of different ethnic backgrounds, with 2 different, similarly highly purified, normal human uracil DNA glycosylases. For each of the 4, a molecular mass of 37 kD was observed. The Bloom syndrome enzymes differed substantially in their isoelectric point and were thermolabile as compared to the normal human enzymes. They displayed a different K(m) and V(max) and were strikingly insensitive to 5-fluorouracil and 5-bromouracil, pyrimidine analogs that drastically decreased the activity of the normal human enzymes. In particular, each Bloom syndrome enzyme required 10- to 100-fold higher concentrations of each analog to achieve comparable inhibition of enzyme activity. </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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<h4>
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<span class="mim-font">
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<strong>Other Features</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>Langlois et al. (1989) used a glycophorin A assay to measure the frequency in persons of blood type MN of variant erythrocytes that lack the expression of 1 allelic form of the protein, presumably due to mutational or recombinational events in erythroid precursor cells. Blood from persons with Bloom syndrome showed 50- to 100-fold increases in the frequency of variants of 3 types, those with a hemizygous phenotype, those with a homozygous phenotype, and those with what appeared to be partial loss of the expression of 1 locus. The high frequency of homozygous variants, indicating altered allelic segregation, could be taken as evidence for increased somatic crossing-over in vivo. </p><p>An increased generation of functional hemizygosity and homozygosity in somatic cells may play a role in the high cancer risk of persons with Bloom syndrome. Accumulation of p53 (191170) protein is seen in the nuclei of mammalian cells following DNA damage caused by ultraviolet radiation, x-ray, or a restriction enzyme. Promoters containing p53-binding sites show a dramatic transcriptional response to DNA damage. The p53 response to x-ray is rapid, reaching a peak at 2 hours after radiation, but is very transitory and reduced in magnitude compared with that seen in response to UV. Lu and Lane (1993) found no substantive defect in the p53 response of cells from ataxia-telangiectasia (208900) or xeroderma pigmentosum complementation group A (278700) patients. In contrast, 2 out of 11 primary cultures from Bloom syndrome patients showed complete absence of p53 accumulation following UV irradiation or SV40 infection and a grossly delayed and aberrant response following x-ray. </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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<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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</div>
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<span class="mim-text-font">
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<p>Szalay (1963) provided the first evidence of a genetic basis of Bloom syndrome. He described an isolated case in the child of first-cousin parents and 2 affected sibs. Autosomal recessive inheritance was established by German (1969), who maintains a worldwide registry which he periodically reports on (e.g., German et al., 1979). Of the then-known 21 families with Bloom syndrome, 12 were Ashkenazi and in these only 1 parental couple was consanguineous. On the other hand, 6 of the 9 non-Jewish unions were consanguineous. The Jewish mutation appeared to have originated in a local area of eastern Europe. </p><p>German and Takebe (1989) reported that 14 patients from 12 families had been identified in Japan. Widely separated birthplaces and a frequency of parental consanguinity greater than in the general population suggested that the mutation, although rare, is widely distributed in that country. Complementation studies indicated that the same genetic locus is involved in the Japanese cases as in the Ashkenazi Jewish cases and non-Ashkenazi Jewish cases. </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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<h4>
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<span class="mim-font">
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<strong>Clinical Management</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>German (1992) commented that BS neoplasms themselves, e.g., leukemic marrow cells, demonstrate a high sister chromatid exchange rate similar to nonneoplastic cells of BS patients. A clinical difference is that leukemia in BS usually presents itself with leukopenia rather than leukocytosis.</p><p>German (1992) advised against frequent hematologic examinations in children for fear of untoward psychologic effects. Allogeneic marrow grafting has not been carried out in BS. An argument can be made for identifying as soon as possible a potential donor of bone marrow for any person with BS, and the cryopreservation of cord-blood stem cells of HLA-matched sibs who might be born after the BS child is identified can be considered, for possible later transplantation.</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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<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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</div>
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<span class="mim-text-font">
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<p>Multiple seemingly nonspecific chromosomal breaks have been observed in Bloom syndrome, as in Fanconi anemia (227650), and may be related causally to the high frequency of leukemia (German et al., 1965; German, 1992). (The Bloom and Fanconi syndromes are chromosome breakage or clastogenic syndromes.) </p><p>Schroeder and German (1974) showed that chromosomal aberrations were more numerous in Fanconi cells than in Bloom cells. In Bloom syndrome most interchanges were between homologous chromosomes, i.e., sister chromatid exchanges, whereas in Fanconi syndrome they were usually between nonhomologous chromosomes. Sister chromatid exchanges represent a cytologic marker useful for diagnosis including prenatal diagnosis. No test for the carrier state is known; the frequency of sister chromatid exchanges is not abnormal in heterozygotes (German et al., 1977). </p><p>Although the nature of the basic defect was not known, the absence of a substance that is supplied by cocultivated normal cells and reduced the rate of sister chromatid exchanges in Bloom syndrome fibroblasts was suggested by the work of Rudiger et al. (1980). Spontaneous SCE, but not mutagen-induced SCE, is inhibited by the Bloom corrective factor present in normal cell-conditioned culture medium. Control cells and cells of Fanconi anemia and xeroderma pigmentosum reduced the rate of sister chromatid exchanges in Bloom cells by about 45 to 50% (Bartram et al., 1981). In contrast, Bloom heterozygous cells reduced the rate of SCE by only 16 to 18%. Bartram et al. (1981) interpreted the findings as indicative of dosage effect. They concluded that the data suggest the existence of a 'corrective factor' which is either inactive or absent in homozygous Bloom cells and reduced in heterozygotes. It may be identical with or closely related to the normal gene product of the Bloom locus. </p><p>Weksberg et al. (1988) addressed the issue of dominance or recessivity of the low-SCE Bloom syndrome phenotype. Although most cells from BS patients exhibit high SCE, lymphoid cells from some patients exhibit dimorphism for high and low SCE. A high-SCE lymphoblast line was mutagenized, and a clone carrying the markers ouabain resistance and thioguanine resistance was isolated to serve as a fusion parent. When fused with low-SCE BS lines, the hybrid was found to have low SCE levels, establishing dominance of the low-SCE phenotype. By the same methodology, Weksberg et al. (1988) did a complementation analysis using high-SCE lymphoblast cell lines derived from patients of diverse ethnic origin: Ashkenazi Jewish, French Canadian, Mennonite, and Japanese. No correction of the high SCE characteristic of BS cells was seen in any hybrids. Thus, a single gene is responsible for the high-SCE phenotype in BS patients. </p><p>Poppe et al. (2001) presented the cytogenetic findings in a Bloom syndrome patient diagnosed with acute myeloid leukemia (AML) of the FAB subtype M1, as well as a review of the literature, which showed the preferential occurrence of total or partial loss of chromosome 7 in BS patients with AML or myelodysplastic syndromes. </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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<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>Lander and Botstein (1987) pointed out that recessive disorders can be efficiently mapped using RFLPs in the study of the DNA of affected children from consanguineous marriages. The method, which the authors called 'homozygosity mapping,' involves detection of the disease locus by virtue of the fact that the adjacent region will preferentially be homozygous by descent in such inbred children. They showed that a single affected child of a first-cousin marriage contains the same total information about linkage as a nuclear family with 3 affected children. They presented calculations to show that it should be practical to map a recessive disease gene by studying DNA from fewer than a dozen unrelated, affected inbred children, given a complete RFLP linkage map. Bloom syndrome was pointed to by Lander and Botstein (1987) as a good candidate for this type of mapping. About 100 living affected persons are known, but there are only 8 known families with 2 living affected members and 1 with 3 affected members. This is insufficient for traditional linkage analysis. By contrast, at least 24 affected persons are children of marriages between cousins. In some more common recessive disorders such as Werdnig-Hoffmann syndrome (253300), multiplex families may be difficult to collect because affected children die at a young age. </p><p>Because of the high parental consanguinity rate in non-Ashkenazi families with Bloom syndrome, Ellis et al. (1992) were able to do homozygosity mapping. Tight linkage was found with loci on distal 15q, specifically 15q26.1 (German et al., 1994). A polymorphic tetranucleotide repeat in an intron of the FES gene (190030) was homozygous in 25 of 26 individuals with Bloom syndrome whose parents were consanguineous (German et al., 1994). The location of the BLM gene on chromosome 15 was further supported by the finding of maternal uniparental disomy for that chromosome in a patient reported by Woodage et al. (1994). The patient had features of both Bloom syndrome and Prader-Willi syndrome (PWS; 176270). Meiotic recombination between the 2 chromosomes 15 derived from the mother had resulted in heterodisomy for proximal 15q and isodisomy for distal 15q. In this individual, Bloom syndrome was probably due to homozygosity for a gene located telomeric to D15S95, which is at 15q25, rather than to genetic imprinting, the mechanism responsible for the development of PWS. This report represented the first application of disomy analysis to the regional localization of a disease gene. Ellis et al. (1994) found a striking association of a specific allele at the FES locus and at the D15S127 locus, both of which are tightly linked to BLM. This linkage disequilibrium constituted strong support for a founder-effect hypothesis to account for the fact that approximately 1 in 110 Ashkenazi Jews carries the Bloom syndrome mutation. </p><p>The rarity of Bloom syndrome and the recessive nature of its inheritance limits mapping of the gene by linkage approaches. McDaniel and Schultz (1992) used Bloom syndrome cells as recipients for microcell-mediated chromosome transfer to map a locus that results in complementation of the elevated sister chromatid exchange phenotype. Studying the Bloom cell line GM08505 (Coriell Institute) with a stable frequency of SCEs 10-fold higher than control values, they demonstrated that transfer of human chromosome 15 corrected the defect. </p><p>Straughen et al. (1996) described a 2-Mb contiguous map of the 15q26.1 region constructed from P1 clones and yeast artificial chromosomes (YACs) that contains the BLM gene. They also reported a long-range restriction map of this region. </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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<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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</div>
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<span class="mim-text-font">
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<p>Cairney et al. (1987) described Wilms tumor in 3 patients with Bloom syndrome. Wilms tumor was bilateral in 1 of the 3 patients. Cairney et al. (1987) postulated that the elevated somatic recombination may mediate a high rate of conversion to homozygosity. Somatic recombination leading to homozygosity in Bloom syndrome has been suggested by several findings, including 'twin spots' or areas of hyper- and hypopigmentation on the skin of affected black children (Festa et al., 1979), increased frequency of exchange between the satellite stalks of acrocentric chromosomes (Therman et al., 1981), and increased variant blood group phenotypes in red cells from a patient with Bloom syndrome who was heterozygous for the AB blood group (Ben-Sasson et al., 1985). </p><p>Petrella et al. (1991) observed autosomal triple trisomy involving chromosomes 2, 8, and 11 in a pregnancy conceived by a couple at risk for an offspring with Bloom syndrome. The SCE rate suggested that the conceptus was either heterozygous for the Bloom syndrome mutation or homozygous normal. They also found the Bloom syndrome gene in a non-Ashkenazi Jew and reported medulloblastoma in a patient with Bloom syndrome. </p><p>The hypermutability of Bloom syndrome cells includes hyperrecombinability. Ellis et al. (1995) noted that although cells from all persons with Bloom syndrome exhibit the diagnostic high SCE rate, in some persons a minor population of low SCE lymphocytes exist in the blood. Lymphoblastoid cell lines (LCLs) with low SCE rates can be developed from these low SCE lymphocytes. In multiple low SCE LCLs examined from 11 patients with BS, polymorphic loci distal to BLM on 15q had become homozygous in LCLs from 5 persons, whereas polymorphic loci proximal to BLM remained heterozygous in all low SCE LCLs. These observations supported the hypothesis that low SCE lymphocytes arose through recombination within BLM in persons with BS who had inherited paternally and maternally derived BLM alleles mutated at different sites. Such a recombination event in a precursor stem cell in these compound heterozygotes thus gave rise to a cell whose progeny had a functionally wildtype gene and phenotypically a low SCE rate (Ellis et al., 1995). Ellis et al. (1995) used the low SCE LCLs in which reduction to homozygosity had occurred for localizing BLM by an approach referred to as somatic crossover point (SCP) mapping. The precise map position of BLM was determined by comparing the genotypes of the recombinant low SCE LCLs from the 5 persons mentioned above with their constitutional genotypes at loci in the region around BLM. The strategy was to identify the most proximal polymorphic locus possible that was constitutionally heterozygous and that had been reduced to homozygosity in the low SCE LCLs, and to identify the most distal polymorphic locus possible that had remained constitutionally heterozygous in them. BLM would have to be in the short interval defined by the reduced (distal) and the unreduced (proximal) heterozygous markers. The power of this approach was limited only by the density of polymorphic loci available in the immediate vicinity of BLM. A candidate gene for Bloom syndrome, designated BLM (RECQL3) was identified by direct selection of a cDNA derived from a 250-kb segment of the genome to which BLM had been assigned by SCP mapping. Mutation analysis in 13 unrelated persons with BLM identified 7 unique mutations in the gene in 10 patients. Four of the 7 mutations resulted in premature termination of translation, indicating that the cause of most cases of Bloom syndrome is loss of enzymatic activity of the RECQL3 gene product. Identification of loss-of-function mutations in RECQL3 was consistent with the autosomal recessive transmission, and the homology of RECQL3 with members of the RecQ gene family suggested that it has enzymatic activity. In 4 persons with Jewish ancestry, a homozygous 6-bp deletion/ 7-bp insertion at nucleotide 2281 in the RECQL3 was identified. Homozygosity was predictable because linkage disequilibrium had been detected in Ashkenazi Jews with Bloom syndrome between RECQL3, D15S127, and FES (Ellis et al., 1994). Thus, this was a founder mutation in the Ashkenazi Jewish population. Ellis et al. (1995) suggested that the absence of the RECQL3 gene product probably destabilizes other enzymes that participate in DNA replication and repair, perhaps through direct interaction and through more general responses to DNA damage. </p><p>Ellis et al. (1999) described the effects on the abnormal cellular phenotype of BS, namely an excessive rate of SCE, when normal BLM cDNA was stably transfected into 2 types of BS cells, SV40-transformed fibroblasts and Epstein-Barr virus-transformed lymphoblastoid cells. The experiments proved that BLM cDNA encodes a functional protein capable of restoring to or toward normal the uniquely characteristic high-SCE phenotype of BS cells. </p><p>In patients with Bloom syndrome, Ellis et al. (1995) identified chain-terminating mutations in the BLM gene. Mutation analysis in 13 unrelated persons with BS identified 7 unique homozygous mutations in the BLM gene in 10 patients (see, e.g., 604610.0001-604610.0002). In 4 persons of Jewish ancestry, a insertion/deletion mutation was identified (604610.0001). Homozygosity was predictable because linkage disequilibrium had been detected in Ashkenazi Jews with Bloom syndrome between BLM, D15S127, and FES (Ellis et al., 1994). Thus, a person who carried this mutation was a founder of Ashkenazi Jewish population and nearly all Ashkenazi Jews with Bloom syndrome inherited the mutation by identity of descent from this common ancestor. </p><p>In a patient with Bloom syndrome and both high- and low-SCE cell lines, Foucault et al. (1997) identified compound heterozygosity for a cys1036-to-phe (C1036F; 604610.0004) substitution in the C-terminal region of the peptide and an unidentified mutation affecting expression of the RECQL3 gene. Foucault et al. (1997) concluded that somatic intragenic recombination resulted in cells that had an untranscribed allele carrying the 2 parental RECQL3 mutations and a wildtype allele which allowed reversion to the low-SCE phenotype. Topoisomerase II-alpha (126430) mRNA and protein levels were decreased in the high-SCE cells, whereas they were normal in the corresponding low-SCE cells. Foucault et al. (1997) proposed that in addition to its putative helicase activity, RECQL3 might be involved in transcription regulation. </p><p>Ababou (2021) summarized the reported RECQL3 mutations in Bloom syndrome. Of the 151 individual mutations reported, 80 were missense or nonsense, 36 were small or gross deletions, 18 were small or gross insertions, 16 were splicing mutations, and 1 was a small indel. The mutations led either to premature termination of the protein (80% of cases) or to lost helicase activity of the protein (20% of cases). </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between a Bloom syndrome-like phenotype and variation in the RMI1 gene, see 610404.0001.</p><p>For discussion of a possible association between a Bloom syndrome-like phenotype and deletion of the RMI2 gene, see 612426.0001.</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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<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>Chester et al. (1998) found that mouse embryos homozygous for a targeted mutation in the murine Bloom syndrome gene are developmentally delayed and die by embryonic day 13.5. They determined that the interrupted gene is the homolog of the human BLM gene by its homologous sequence, its chromosomal location, and the demonstration of high numbers of sister chromatid exchanges in cultured murine Blm -/- fibroblasts. The proportional dwarfism seen in the human is consistent with the small size and developmental delay (12 to 24 hours) seen during midgestation in murine Blm -/- embryos. The growth retardation in mutant embryos can be accounted for by a wave of increased apoptosis in the epiblast restricted to early postimplantation embryogenesis. Mutant embryos do not survive past day 13.5, and at this time exhibit severe anemia. Red blood cells and their precursors from Blm -/- embryos are heterogeneous in appearance and have increased numbers of macrocytes and micronuclei. Both the apoptotic wave and the appearance of micronuclei in red blood cells are likely cellular consequences of damaged DNA caused by effects on replicating or segregating chromosomes. </p><p>Using embryonic stem cell technology, Luo et al. (2000) generated viable Bloom syndrome mice that were prone to a wide variety of cancers. Cell lines from these mice showed elevations in the rates of mitotic recombination. They demonstrated that the increased rate of loss of heterozygosity resulting from mitotic recombination in vivo constituted the underlying mechanism causing tumor susceptibility in these mice. </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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<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>Willis and Lindahl (1987) and Chan et al. (1987) independently demonstrated an abnormality of DNA ligase I (126391) in Bloom syndrome. DNA ligase I and DNA polymerase alpha (312040) are enzymes that function during DNA replication; DNA ligase II and DNA polymerase beta (174760) function during DNA repair. That the primary defect resides in the structural gene for DNA ligase I was suggested by the changes in the physical properties of the enzyme, specifically, heat sensitivity (Willis and Lindahl, 1987) and altered aggregation properties (Chan et al., 1987). Experiments with a fibroblast line derived from a Japanese case of Bloom syndrome showed that DNA ligase I from that source was not obviously heat sensitive or present in reduced amounts. Chan and Becker (1988) also came to the conclusion that mutation of the DNA ligase I gene may account for the primary metabolic defect in Bloom syndrome. Their data suggested that the defect in DNA ligase I is not due to a reduction in the number of protein molecules or to inhibitory substances but rather, at least in part, to the ATP binding and/or hydrolytic activity of the enzyme. </p><p>Willis et al. (1987) found that all cell lines derived from 7 patients with Bloom syndrome contained a DNA ligase I with unusual properties. In 6 lines the enzyme activity was reduced and the residual enzyme was anomalously heat-labile. In the seventh line, they found a dimeric rather than a monomeric form of ligase I. Several cell lines representative of other inherited disorders had apparently normal DNA ligases. The data were interpreted as indicating that BLM is due to a defect in the structure of DNA ligase I caused by a 'leaky' point mutation occurring at one of at least 2 alternative sites. If the primary defect lies in the structural gene for DNA ligase I, then Barnes et al. (1990) reasoned that the mutation for Bloom syndrome is on chromosome 19, which encodes DNA ligase I. </p><p>Since alteration of the DNA ligase I activity is a consistent biochemical feature of Bloom syndrome cells, Petrini et al. (1991) cloned DNA ligase I cDNA from normal human cells. Human DNA ligase I cDNAs from normal and BS cells complemented an S. cerevisiae DNA ligase mutation, and protein extracts prepared from S. cerevisiae transformants expressing normal and BS cDNA contained comparable levels of DNA ligase I activity. DNA sequencing and Northern blot analysis of DNA ligase I expression in 2 BS fibroblast lines representing each of 2 aberrant DNA ligase I molecular phenotypes demonstrated that the gene was unchanged in BS cells. Thus, a factor other than mutation in the ligase I gene must be involved as the basic defect. </p><p>Nicotera et al. (1989) suggested that the major biochemical defect in Bloom syndrome is chronic overproduction of the superoxide radical anion. They thought that inefficient removal of peroxide might be responsible for high rates of sister chromatid exchange and chromosomal damage in Bloom syndrome cells. Seal et al. (1988) described a monoclonal antibody, defined by enzyme-linked immunosorbent assay (ELISA), that reacted with normal uracil DNA glycosylase (191525) of human placenta as well as with the glycosylases from normal human cell types and 13 abnormal human cell strains. On the other hand, the antibody neither recognized nor inhibited native uracil DNA glycosylase from any of 5 separate Bloom syndrome cell strains. Lack of immunoreactivity with this antibody, which the authors designated 40.10.09, was suggested as a test for the early diagnosis of Bloom syndrome. </p><p>Ferrara et al. (1967) reported Bloom syndrome in a 'Chinese-American'; however, the diagnosis was later (Ferrara, 1972) revised to focal dermal hypoplasia (305600). </p><p>Thompson et al. (1982) found greatly increased sister chromatid exchanges in a mutant Chinese hamster ovary (CHO) cell line (EM9) with a DNA repair deficiency (see 126340). The deficiency was complemented in human-CHO somatic cell hybrids by human chromosome 19. The mapping of Bloom syndrome to chromosome 15 excluded the possibility that this was the Bloom syndrome defect. </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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<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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Arase et al. (1980); Bloom (1966); Bryant et al. (1979); Cerutti et
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al. (1981); Chaganti et al. (1974); Ellis et al. (1998); Ellis and
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German (1996); German et al. (1974); German et al. (1977); German
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(1992); Hutteroth et al. (1975); Kawashima et al. (1980); Kuhn
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(1981); Leroux et al. (1984); Lindor et al. (2000); Oddoux et al.
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(1999); Rosin and German (1985); Sawitsky et al. (1966);
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Schmidt-Preuss et al. (1981); Siciliano et al. (1983); Straughen et
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al. (1998); van Buul et al. (1978); Warren et al. (1981)
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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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<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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<div>
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<p />
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</div>
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<div>
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<ol>
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<p class="mim-text-font">
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Ababou, M.
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<strong>Bloom syndrome and the underlying cause of genetic instability.</strong>
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Molec. Genet. Metab. 133: 35-48, 2021.
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[Full Text: https://doi.org/10.1016/j.ymgme.2021.03.003]
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Arase, S., Takahashi, O., Ishizaki, K., Takebe, H.
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<strong>Bloom's syndrome in a Japanese boy with lymphoma.</strong>
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Clin. Genet. 18: 123-127, 1980.
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<p class="mim-text-font">
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Barnes, D. E., Johnston, L. H., Kodama, K., Tomkinson, A. E., Lasko, D. D., Lindahl, T.
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<strong>Human DNA ligase I cDNA: cloning and functional expression in Saccharomyces cerevisiae.</strong>
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Proc. Nat. Acad. Sci. 87: 6679-6683, 1990.
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Bartram, C. R., Rudiger, H. W., Schmidt-Preuss, U., Passarge, E.
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<strong>Functional deficiency of fibroblasts heterozygous for Bloom syndrome as specific manifestation of the primary defect.</strong>
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Am. J. Hum. Genet. 33: 928-934, 1981.
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Bloom, D.
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<strong>The syndrome of congenital telangiectatic erythema and stunted growth.</strong>
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J. Pediat. 68: 103-113, 1966.
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<strong>Normalisation of sister chromatid exchange frequencies in Bloom's syndrome by euploid cell hybridization.</strong>
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Nature 279: 795-796, 1979.
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Cairney, A. E. L., Andrews, M., Greenberg, M., Smith, D., Weksberg, R.
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<strong>Wilms tumor in three patients with Bloom syndrome.</strong>
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J. Pediat. 111: 414-416, 1987.
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[PubMed: 3040954]
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[Full Text: https://doi.org/10.1016/s0022-3476(87)80469-9]
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Cerutti, P., Emerit, I., Hirschi, M., Zbinden, I.
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<strong>Bloom's syndrome: a deficiency in the detoxification of active oxygen species? (Abstract)</strong>
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Europ. J. Cancer Clin. Oncol. 17: 938, 1981.
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Chaganti, R. S. K., Schonberg, S., German, J.
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<strong>A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes.</strong>
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Proc. Nat. Acad. Sci. 71: 4508-4512, 1974.
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[PubMed: 4140506]
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[Full Text: https://doi.org/10.1073/pnas.71.11.4508]
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Chan, J. Y. H., Becker, F. F., German, J., Ray, J. H.
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<strong>Altered DNA ligase I activity in Bloom's syndrome cells.</strong>
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Nature 325: 357-359, 1987.
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[PubMed: 3808032]
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[Full Text: https://doi.org/10.1038/325357a0]
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Chan, J. Y.-H., Becker, F. F.
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<strong>Defective DNA ligase I in Bloom's syndrome cells: simultaneous analysis using immunoblotting and the ligase-(32-P)AMP adduct assay.</strong>
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J. Biol. Chem. 263: 18231-18235, 1988.
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[PubMed: 3192533]
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Chester, N., Kuo, F., Kozak, C., O'Hara, C. D., Leder, P.
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<strong>Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom's syndrome gene.</strong>
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Genes Dev. 12: 3382-3393, 1998.
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[PubMed: 9808625]
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Chisholm, C. A., Bray, M. J., Karns, L. B.
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<strong>Successful pregnancy in a woman with Bloom syndrome.</strong>
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Cunniff, C., Bassetti, J. A., Ellis, N. A.
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<strong>Bloom's syndrome: clinical spectrum, molecular pathogenesis, and cancer predisposition.</strong>
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Ellis, N. A., Ciocci, S., Proytcheva, M., Lennon, D., Groden, J., German, J.
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<strong>The Ashkenazic Jewish Bloom syndrome mutation blm(Ash) is present in non-Jewish Americans of Spanish ancestry.</strong>
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Am. J. Hum. Genet. 63: 1685-1693, 1998.
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[PubMed: 9837821]
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[Full Text: https://doi.org/10.1086/302167]
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Ellis, N. A., German, J.
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<strong>Molecular genetics of Bloom's syndrome.</strong>
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Hum. Molec. Genet. 5: 1457-1463, 1996.
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[PubMed: 8875252]
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[Full Text: https://doi.org/10.1093/hmg/5.supplement_1.1457]
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</p>
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<p class="mim-text-font">
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Ellis, N. A., Groden, J., Ye, T.-Z., Straughen, J., Lennon, D. J., Ciocci, S., Proytcheva, M., German, J.
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<strong>The Bloom's syndrome gene product is homologous to RecQ helicases.</strong>
|
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Cell 83: 655-666, 1995.
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[PubMed: 7585968]
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[Full Text: https://doi.org/10.1016/0092-8674(95)90105-1]
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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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Ellis, N. A., Lennon, D. J., Proytcheva, M., Alhadeff, B., Henderson, E. E., German, J.
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<strong>Somatic intragenic recombination within the mutated locus BLM can correct the high SCE phenotype of Bloom syndrome cells.</strong>
|
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Am. J. Hum. Genet. 57: 1019-1027, 1995. Note: Erratum: Am. J. Hum. Genet. 58: 254 only, 1996.
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[PubMed: 7485150]
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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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Ellis, N. A., Proytcheva, M., Sanz, M. M., Ye, T.-Z., German, J.
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<strong>Transfection of BLM into cultured Bloom syndrome cells reduces the sister-chromatid exchange rate toward normal.</strong>
|
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Am. J. Hum. Genet. 65: 1368-1374, 1999.
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[PubMed: 10521302]
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[Full Text: https://doi.org/10.1086/302616]
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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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Ellis, N. A., Roe, A. M., Kozloski, J., Proytcheva, M., Falk, C., German, J.
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<strong>Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome.</strong>
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Am. J. Hum. Genet. 55: 453-460, 1994.
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[PubMed: 8079989]
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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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Ellis, N. A., Roe, A. M., Otterud, B., Leppert, M., German, J.
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<strong>Homozygosity mapping of the Bloom's syndrome locus. (Abstract)</strong>
|
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Am. J. Hum. Genet. 51 (suppl.): A187, 1992.
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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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Ferrara, A., Fontana, V. J., Numsen, G.
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<strong>Bloom's syndrome in Oriental male.</strong>
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New York J. Med. 67: 3258-3262, 1967.
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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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Ferrara, A.
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<strong>Goltz's syndrome. (Letter)</strong>
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Am. J. Dis. Child. 123: 263, 1972.
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[PubMed: 4337297]
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[Full Text: https://doi.org/10.1001/archpedi.1972.02110090133024]
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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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Festa, R. S., Meadows, A. T., Boshes, R. A.
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<strong>Leukemia in a black child with Bloom syndrome.</strong>
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Cancer 44: 1507-1510, 1979.
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Woodage, T., Prasad, M., Dixon, J. W., Selby, R. E., Romain, D. R., Columbano-Green, L. M., Graham, D., Rogan, P. K., Seip, J. R., Smith, A., Trent, R. J.
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<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
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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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</body>
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</html>
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