2774 lines
227 KiB
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2774 lines
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Entry
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- #612474 - CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
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- OMIM
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<p>
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<span class="h4">#612474</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="/clinicalSynopsis/612474"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB" 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://decipher.sanger.ac.uk/syndrome/62" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19598&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/NBK52787/" 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://medlineplus.gov/genetics/condition/1q211-microdeletion" 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=612474[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=250989" 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/8b5949d6-d908-4132-a41d-bf59f2ce2a96/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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<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><a href="https://www.alliancegenome.org/disease/DOID:0060411" 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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<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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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 699305004<br />
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<strong>ORPHA:</strong> 250989<br />
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<strong>DO:</strong> 0060411<br />
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">ICD+</a>
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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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612474
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</span>
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</span>
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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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CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/1/996?start=-3&limit=10&highlight=996">1q21.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:143200001-147500000&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">1:143,200,001-147,500,000</a> </span>
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</strong>
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<br />
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover 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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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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<a href="/geneMap/1/996?start=-3&limit=10&highlight=996">
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1q21.1
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</a>
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<td>
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<span class="mim-font">
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Chromosome 1q21.1 deletion syndrome
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<td>
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<span class="mim-font">
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<a href="/entry/612474"> 612474 </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 dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Isolated cases">IC</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved">4</abbr>
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</span>
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<a href="/clinicalSynopsis/612474" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<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')">
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<span class="sr-only">Toggle Dropdown</span>
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</div>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </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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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br /> -
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Isolated cases <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853237&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853237</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003745" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003745</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003745" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003745</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398241000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398241000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413769002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413769002</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> GROWTH </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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<div>
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<span class="h5 mim-font">
|
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<em> Height </em>
|
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</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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|
|
- Normal or reduced <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675900&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675900</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> HEAD & NECK </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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<div>
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<span class="h5 mim-font">
|
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<em> Head </em>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- 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 />
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</span>
|
|
</div>
|
|
</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mild dysmorphism <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675896&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675896</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276720006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276720006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276655000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276655000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276654001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276654001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q89.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q89.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/740-759.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">740-759.99</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/759.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">759.9</a>]</span><br /> -
|
|
Frontal bossing <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90145001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90145001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221354</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Frontal_Bossing-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25" 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>
|
|
</div>
|
|
</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Deep-set eyes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246923005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246923005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423224</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000490" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000490</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000490" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000490</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=08eb099548b91270db09ad79e8e75da3" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eye,Deeply_Set-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=08eb099548b91270db09ad79e8e75da3" 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> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Bulbous nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240543</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000414</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000414</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=50ff569bd76b9a6cd5dba7aabce89564" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nose,Bulbous-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=50ff569bd76b9a6cd5dba7aabce89564" 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>
|
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|
|
</div>
|
|
|
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|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Bicuspid aortic valve with aneurysm <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675901&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675901</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Truncus arteriosus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/787779000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">787779000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61959006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61959006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/58140002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">58140002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q20.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q20.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0041206&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041206</a>, <a href="https://bioportal.bioontology.org/search?q=C0041207&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041207</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001660" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001660</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001660" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001660</a>]</span><br /> -
|
|
Transposition of great vessels <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204296002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204296002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26146002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26146002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q20.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q20.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/745.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040761&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040761</a>, <a href="https://bioportal.bioontology.org/search?q=C3536741&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3536741</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001669" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001669</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001669" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001669</a>]</span><br /> -
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Patent ductus arteriosus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83330001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83330001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q25.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q25.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/747.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">747.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013274&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013274</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001643</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001643</a>]</span><br /> -
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Coarctation of aorta <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7305005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7305005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q25.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/747.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">747.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/747.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">747.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003492&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003492</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001680</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001680</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> SKELETAL </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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<div>
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<span class="h5 mim-font">
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<em> Hands </em>
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</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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- Broad thumbs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249773003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249773003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426891&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426891</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011304" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011304</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011304" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011304</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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<span class="h5 mim-font">
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<em> Feet </em>
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</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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- Broad halluces <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867131&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867131</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010055" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010055</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010055" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010055</a>]</span><br /> -
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Duplicated or bifid halluces (minority) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675899&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675899</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> NEUROLOGIC </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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<div>
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<span class="h5 mim-font">
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<em> Central Nervous System </em>
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</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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- Mild to moderate mental retardation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861865&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861865</a>]</span><br /> -
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Autism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35919005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35919005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/408857007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">408857007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43614003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43614003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F84.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F84.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F84</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F84.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F84.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/299" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">299</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/299.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">299.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/299.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">299.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0524528&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0524528</a>, <a href="https://bioportal.bioontology.org/search?q=C0004352&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004352</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000717" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000717</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000717" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000717</a>]</span><br /> -
|
|
Schizophrenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/58214004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">58214004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/191526005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">191526005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F20.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F20.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/295.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">295.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/295" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">295</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/295.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">295.90</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036341&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036341</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100753" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100753</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100753" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100753</a>]</span><br /> -
|
|
Normal neurological development is possible <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675898&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675898</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MISCELLANEOUS </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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|
|
- Incomplete penetrance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span><br />
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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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|
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- Caused by a 1.35-Mb deletion of chromosome 1q21<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>
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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 it represents a contiguous gene deletion syndrome (chr1: 145.0-146.4 Mb, NCBI36).</p><p>See <a href="/entry/274000">274000</a> for another contiguous gene deletion syndrome, thrombocytopenia-absent radius (TAR) syndrome, that maps to a nonoverlapping region of chromosome 1q21.1.</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>Among 21 patients with a 1.35-Mb deletion in chromosome 1q21.1, <a href="#11" class="mim-tip-reference" title="Mefford, H., Sharp, A., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V., Crolla, J., Baralle, D., Collins, A., Mercer, C., and 72 others. <strong>Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.</strong> New Eng. J. Med. 359: 1685-1699, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18784092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18784092</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18784092[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/10.1056/NEJMoa0805384" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18784092">Mefford et al. (2008)</a> found considerable variability in the level of phenotypic expression of the microdeletion; phenotypes included mild to moderate mental retardation, microcephaly, cardiac abnormalities, and cataracts. The majority of persons with the deletion had a history of mild to moderate developmental delay (16 of 21, 76.2%) and dysmorphic features (17 of 21, 81%), consistent with their ascertainment criteria. Three parents were also mildly affected; however, 5 probands had normal cognitive development, and 4 apparently unaffected parents had the same deletion. In addition, 14 of the 21 patients (66.7%) and 2 parents with the deletion had microcephaly or relative microcephaly. Other phenotypic features noted in more than 1 patient with deletion included ligamentous laxity or joint hypermobility in 5, congenital heart abnormality in 6, hypotonia in 5, seizures in 3, and cataracts in 3. Facial anomalies were quite variable and generally mild. There were no notable phenotypic differences among carriers of a deletion with different breakpoints. Interestingly, this same deletion was recently described in an adult patient with schizophrenia (<a href="#16" class="mim-tip-reference" title="Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., Stray, S. M., Rippey, C. F., and 24 others. <strong>Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia.</strong> Science 320: 539-543, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18369103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18369103</a>] [<a href="https://doi.org/10.1126/science.1155174" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18369103">Walsh et al., 2008</a>). <a href="#11" class="mim-tip-reference" title="Mefford, H., Sharp, A., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V., Crolla, J., Baralle, D., Collins, A., Mercer, C., and 72 others. <strong>Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.</strong> New Eng. J. Med. 359: 1685-1699, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18784092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18784092</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18784092[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/10.1056/NEJMoa0805384" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18784092">Mefford et al. (2008)</a> mapped the breakpoint in this patient and found it to be identical to that found in their sample of patients. <a href="#11" class="mim-tip-reference" title="Mefford, H., Sharp, A., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V., Crolla, J., Baralle, D., Collins, A., Mercer, C., and 72 others. <strong>Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.</strong> New Eng. J. Med. 359: 1685-1699, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18784092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18784092</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18784092[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/10.1056/NEJMoa0805384" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18784092">Mefford et al. (2008)</a> noted that they found this deletion in 0.5% of patients with developmental abnormalities studied. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18369103+18784092" 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="#3" class="mim-tip-reference" title="Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., Shen, J., Kang, S.-H. L., and 28 others. <strong>Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.</strong> Nature Genet. 40: 1466-1471, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19029900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19029900</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19029900[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.279" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19029900">Brunetti-Pierri et al. (2008)</a> reported an additional 21 probands with a 1q21 microdeletion. Fifteen had the 1.35-Mb deletion and an additional 6 had a deletion involving the 1.35 and the TAR critical region, extending to a total of about 2 Mb (<a href="/entry/274000">274000</a>). The majority of microdeletions were inherited, and incomplete penetrance was noted. Among the probands and their affected parents microcephaly was described in the majority. The mean frontal occipital circumference (FOC) Z score for microdeletion cases (probands, parents, and sibs carrying the microdeletion) was -2.53 (95% confidence interval = -2.96; -2.11). Statistical analysis of probands only yielded a Z score of -2.55 (95% CI -3.12; -1.98). The authors noted that macrocephaly is seen in the majority of patients with the reciprocal microduplication (<a href="/entry/612475">612475</a>). Patients with 1q21 microdeletion had frontal bossing, deep-set eyes, and bulbous nose as the most frequent dysmorphic facial features. Numerous other congenital anomalies were detected in some, but not all, cases. Attention deficit-hyperactivity disorder (ADHD), aggressive behavior, and seizure disorders were identified in some. Many of the patients were too young to have full cognitive and behavioral abnormalities identified. Learning disabilities were reported in several of the affected parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19029900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bernier, R., Steinman, K. J., Reilly, B., Wallace, A. S., Sherr, E. H., Pojman, N., Mefford, H. C., Gerdts, J., Earl, R., Hanson, E., Goin-Kochel, R. P., Berry, L., and 9 others. <strong>Clinical phenotype of the recurrent 1q21.1 copy-number variant.</strong> Genet. Med. 18: 341-349, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26066539/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26066539</a>] [<a href="https://doi.org/10.1038/gim.2015.78" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26066539">Bernier et al. (2016)</a> compared the phenotype of 19 patients with a 1q21.1 deletion and 19 patients with a 1q21.1 duplication (<a href="/entry/612475">612475</a>) who were ascertained through clinical genetic testing. Deletion and duplication carriers shared several features, including borderline cognitive functioning, impaired fine and gross motor functioning, articulation abnormalities, and hypotonia. In deletion cases, the most common psychiatric disorders included internalizing disorders, such as mood and anxiety disorders (26%). The most commonly reported nonneurologic medical problems included short stature (50%), cataracts (33%), and cardiac problems (33%). In duplication carriers, the most common psychiatric/developmental disorders included autism spectrum disorder (41%), ADHD (29%), and intellectual disability (29%). The most commonly reported nonneurologic medical problems included scoliosis (36%), short stature (27%), and gastric ulcers (27%). Whereas microcephaly was prevalent in deletion carriers, macrocephaly was common in duplication carriers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26066539" 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>By screening 5,218 patients with unexplained mental retardation, autism, or congenital anomalies for the presence of microdeletions or microduplications in chromosome 1q21.1, <a href="#11" class="mim-tip-reference" title="Mefford, H., Sharp, A., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V., Crolla, J., Baralle, D., Collins, A., Mercer, C., and 72 others. <strong>Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.</strong> New Eng. J. Med. 359: 1685-1699, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18784092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18784092</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18784092[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/10.1056/NEJMoa0805384" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18784092">Mefford et al. (2008)</a> identified 25 individuals with a recurrent 1.35-Mb deletion. Of the 21 probands without secondary karyotype abnormalities, the 1q21.1 deletion was de novo in 7 (3 with maternal origin, 1 with paternal origin, and 3 with undetermined parental origin), maternally inherited in 3, paternally inherited in 4, and of unknown inheritance (because the parents were unavailable for study) in 7. Three parents with the deletion were apparently unaffected, and 4 were mildly affected. The deletion was absent in a series of 4,737 control persons (p = 1.1 x 10(-7)). This same deletion was identified in 3 individuals from an independent sample of 788 patients with mental retardation and congenital anomalies. The minimally deleted region spans approximately 1.35 Mb on chromosome 1, 143.65 to 145 Mb (according to NCBI build 35), or 145 to 146.35 Mb (according to NCBI build 36) and includes at least 7 genes. The reciprocal duplication (<a href="/entry/612475">612475</a>) was present in 9 children with mental retardation or autism spectrum disorder (ASD) and other variable features (p = 0.02). Because mutations in the GJA5 (<a href="/entry/121013">121013</a>) and GJA8 (<a href="/entry/600897">600897</a>) genes cause cardiac and eye phenotypes, respectively, <a href="#11" class="mim-tip-reference" title="Mefford, H., Sharp, A., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V., Crolla, J., Baralle, D., Collins, A., Mercer, C., and 72 others. <strong>Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.</strong> New Eng. J. Med. 359: 1685-1699, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18784092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18784092</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18784092[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/10.1056/NEJMoa0805384" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18784092">Mefford et al. (2008)</a> sequenced the remaining alleles of these genes in deletion carriers, but found no mutations. There was no significant difference in epigenetic markings between affected and unaffected deletion carriers. This deletion had been reported in patients with isolated heart defects (<a href="#5" class="mim-tip-reference" title="Christiansen, J., Dyck, J. D., Elyas, B. G., Lilley, M., Bamforth, J. S., Hicks, M., Sprysak, K. A., Tomaszewski, R., Haase, S. M., Vicen-Wyhony, L. M., Somerville, M. J. <strong>Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.</strong> Circ. Res. 94: 1429-1435, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15117819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15117819</a>] [<a href="https://doi.org/10.1161/01.RES.0000130528.72330.5c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15117819">Christiansen et al., 2004</a>), cataracts (<a href="#12" class="mim-tip-reference" title="Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D., Fiegler, H., Shapero, M. H., Carson, A. R., Chen, W., Cho, E. K., Dallaire, S., and 31 others. <strong>Global variation in copy number in the human genome.</strong> Nature 444: 444-454, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17122850/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17122850</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17122850[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature05329" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17122850">Redon et al., 2006</a>), mullerian aplasia (<a href="#4" class="mim-tip-reference" title="Cheroki, C., Krepischi-Santos, A. C. V., Szuhai, K., Brenner, V., Kim, C. A. E., Otto, P. A., Rosenberg, C. <strong>Genomic imbalances associated with mullerian aplasia.</strong> J. Med. Genet. 45: 228-232, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18039948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18039948</a>] [<a href="https://doi.org/10.1136/jmg.2007.051839" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18039948">Cheroki et al., 2008</a>), autism (<a href="#1" class="mim-tip-reference" title="Autism Genome Project Consortium. <strong>Mapping autism risk loci using genetic linkage and chromosomal rearrangements.</strong> Nature Genet. 39: 319-328, 2007. Note: Erratum: Nature Genet. 39: 1285 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17322880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17322880</a>] [<a href="https://doi.org/10.1038/ng1985" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17322880">Autism Genome Project Consortium, 2007</a>), and schizophrenia (<a href="#14" class="mim-tip-reference" title="Stefansson, H., Rujescu, D., Cichon, S., Pietilainen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., Buizer-Voskamp, J. E., Hansen, T., Jakobsen, K. D., and 64 others. <strong>Large recurrent microdeletions associated with schizophrenia.</strong> Nature 455: 232-236, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18668039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18668039</a>] [<a href="https://doi.org/10.1038/nature07229" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18668039">Stefansson et al., 2008</a>, <a href="#7" class="mim-tip-reference" title="International Schizophrenia Consortium. <strong>Rare chromosomal deletions and duplications increase risk of schizophrenia.</strong> Nature 455: 237-241, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18668038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18668038</a>] [<a href="https://doi.org/10.1038/nature07239" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18668038">International Schizophrenia Consortium, 2008</a>, and <a href="#16" class="mim-tip-reference" title="Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., Stray, S. M., Rippey, C. F., and 24 others. <strong>Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia.</strong> Science 320: 539-543, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18369103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18369103</a>] [<a href="https://doi.org/10.1126/science.1155174" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18369103">Walsh et al., 2008</a>). <a href="#11" class="mim-tip-reference" title="Mefford, H., Sharp, A., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V., Crolla, J., Baralle, D., Collins, A., Mercer, C., and 72 others. <strong>Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.</strong> New Eng. J. Med. 359: 1685-1699, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18784092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18784092</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18784092[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/10.1056/NEJMoa0805384" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18784092">Mefford et al. (2008)</a> stated that, while they identified several unaffected deletion carriers, it is possible that apparently unaffected parents who have a 1q21 deletion could have subtle phenotypic features consistent with the deletion that would become evident on further clinical evaluation. In one of their patients subtle cataracts and patent ductus arteriosus were detected only after directive studies were performed upon discovery of the 1q21 deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15117819+18369103+18668039+18784092+18039948+17322880+18668038+17122850" 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="#3" class="mim-tip-reference" title="Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., Shen, J., Kang, S.-H. L., and 28 others. <strong>Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.</strong> Nature Genet. 40: 1466-1471, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19029900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19029900</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19029900[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.279" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19029900">Brunetti-Pierri et al. (2008)</a> suggested that the HYDIN paralog located in the 1q21 interval (HYDIN2; <a href="/entry/610813">610813</a>) is a dosage-sensitive gene and that deletion of 1 copy is responsible for the microcephaly seen in their group of 21 probands with a 1q21 microdeletion. The HYDIN2 gene is exclusively expressed in brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19029900" 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>To investigate large copy number variants (CNVs) segregating at rare frequencies (0.1 to 1.0%) in the general population as candidate neurologic disease loci, <a href="#8" class="mim-tip-reference" title="Itsara, A., Cooper, G. M., Baker, C., Girirajan, S., Li, J., Absher, D., Krauss, R. M., Myers, R. M., Ridker, P. M., Chasman, D. I., Mefford, H., Ying, P., Nickerson, D. A., Eichler, E. E. <strong>Population analysis of large copy number variants and hotspots of human genetic disease.</strong> Am. J. Hum. Genet. 84: 148-161, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19166990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19166990</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19166990[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.12.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19166990">Itsara et al. (2009)</a> compared large CNVs found in their study of 2,500 individuals with published data from affected individuals in 9 genomewide studies of schizophrenia, autism, and mental retardation. They found evidence to support the association of deletion in chromosome 1q21 with autism and schizophrenia (CNV p = 1.67 x 10(-4)). They identified 27 CNVs in this region; 24 of these were disease-associated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19166990" 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="#13" class="mim-tip-reference" title="Sahoo, T., Theisen, A., Rosenfeld, J. A., Lamb, A. N., Ravnan, J. B., Schultz, R. A., Torchia, B. S., Neill, N., Casci, I., Bejjani, B. A., Shaffer, L. G. <strong>Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.</strong> Genet. Med. 13: 868-880, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21792059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21792059</a>] [<a href="https://doi.org/10.1097/GIM.0b013e3182217a06" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21792059">Sahoo et al. (2011)</a> analyzed 38,779 individuals referred to the diagnostic laboratory for microarray testing for the presence of copy number variants encompassing 20 putative schizophrenia susceptibility loci. They also analyzed the indications for study for individuals with copy number variants overlapping those found in 6 individuals referred for schizophrenia. After excluding larger gains or losses that encompassed additional genes outside the candidate loci (e.g., whole-arm gains/losses), <a href="#13" class="mim-tip-reference" title="Sahoo, T., Theisen, A., Rosenfeld, J. A., Lamb, A. N., Ravnan, J. B., Schultz, R. A., Torchia, B. S., Neill, N., Casci, I., Bejjani, B. A., Shaffer, L. G. <strong>Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.</strong> Genet. Med. 13: 868-880, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21792059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21792059</a>] [<a href="https://doi.org/10.1097/GIM.0b013e3182217a06" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21792059">Sahoo et al. (2011)</a> identified 1,113 individuals with copy number variants encompassing schizophrenia susceptibility loci and 37 individuals with copy number variants overlapping those present in the 6 individuals referred for schizophrenia. Of these, 1,035 had a copy number variant of 1 of 6 recurrent loci: 1q21.1 (<a href="/entry/612475">612475</a>), 15q11.2 (<a href="/entry/608636">608636</a>), 15q13.3 (<a href="/entry/612001">612001</a>), 16p11.2 (<a href="/entry/611913">611913</a>), 16p13.11 (<a href="/entry/610543">610543</a>, <a href="/entry/613458">613458</a>), and 22q11.2 (<a href="/entry/192430">192430</a>, <a href="/entry/608363">608363</a>). <a href="#13" class="mim-tip-reference" title="Sahoo, T., Theisen, A., Rosenfeld, J. A., Lamb, A. N., Ravnan, J. B., Schultz, R. A., Torchia, B. S., Neill, N., Casci, I., Bejjani, B. A., Shaffer, L. G. <strong>Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.</strong> Genet. Med. 13: 868-880, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21792059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21792059</a>] [<a href="https://doi.org/10.1097/GIM.0b013e3182217a06" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21792059">Sahoo et al. (2011)</a> identified 18 individuals with a 1q21.1 deletion; 12 were de novo, 18 maternally inherited, 15 paternally inherited, and 73 of unknown inheritance. The average age at diagnosis was 7.5 years with an age range of 0.2 to 41 years, and the indications for study included developmental delay, autism, failure to thrive, dysmorphic features, seizures, congenital heart disease, polydactyly, and macrocephaly. <a href="#13" class="mim-tip-reference" title="Sahoo, T., Theisen, A., Rosenfeld, J. A., Lamb, A. N., Ravnan, J. B., Schultz, R. A., Torchia, B. S., Neill, N., Casci, I., Bejjani, B. A., Shaffer, L. G. <strong>Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.</strong> Genet. Med. 13: 868-880, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21792059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21792059</a>] [<a href="https://doi.org/10.1097/GIM.0b013e3182217a06" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21792059">Sahoo et al. (2011)</a> studied 107 1q21.1 microdeletion patients among 23,250 cases referred to their laboratory for an incidence of 0.46%, compared with 3 in 5,674 controls, reported by <a href="#8" class="mim-tip-reference" title="Itsara, A., Cooper, G. M., Baker, C., Girirajan, S., Li, J., Absher, D., Krauss, R. M., Myers, R. M., Ridker, P. M., Chasman, D. I., Mefford, H., Ying, P., Nickerson, D. A., Eichler, E. E. <strong>Population analysis of large copy number variants and hotspots of human genetic disease.</strong> Am. J. Hum. Genet. 84: 148-161, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19166990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19166990</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19166990[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.12.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19166990">Itsara et al. (2009)</a> (p = less than 0.0001). A previously reported case-control comparison in schizophrenia populations observed a frequency of 0.2% versus 0.023% (<a href="#10" class="mim-tip-reference" title="Kirov, G., Grozeva, D., Norton, N., Ivanov, D., Mantripragada, K. K., Holmans, P., International Schizophrenia Consortium, the Wellcome Trust Case Control Consortium, Owen, M. J., O'Donovan, M. C. <strong>Support for the involvement of large copy number variants in the pathogenesis of schizophrenia.</strong> Hum. Molec. Genet. 18: 1497-1503, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19181681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19181681</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19181681[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/10.1093/hmg/ddp043" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19181681">Kirov et al., 2009</a>). The frequency reported in a case-control comparison in a variable neurodevelopmental deficit population was 0.47%, similar to that seen in the population of <a href="#13" class="mim-tip-reference" title="Sahoo, T., Theisen, A., Rosenfeld, J. A., Lamb, A. N., Ravnan, J. B., Schultz, R. A., Torchia, B. S., Neill, N., Casci, I., Bejjani, B. A., Shaffer, L. G. <strong>Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.</strong> Genet. Med. 13: 868-880, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21792059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21792059</a>] [<a href="https://doi.org/10.1097/GIM.0b013e3182217a06" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21792059">Sahoo et al. (2011)</a>, with a control frequency of 0.0% (<a href="#15" class="mim-tip-reference" title="Vassos, E., Collier, D. A., Holden, S., Patch, C., Rujescu, D., St Clair, D., Lewis, C. M. <strong>Penetrance for copy number variants associated with schizophrenia.</strong> Hum. Molec. Genet. 19: 3477-3481, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20587603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20587603</a>] [<a href="https://doi.org/10.1093/hmg/ddq259" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20587603">Vassos et al., 2010</a>). <a href="#13" class="mim-tip-reference" title="Sahoo, T., Theisen, A., Rosenfeld, J. A., Lamb, A. N., Ravnan, J. B., Schultz, R. A., Torchia, B. S., Neill, N., Casci, I., Bejjani, B. A., Shaffer, L. G. <strong>Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.</strong> Genet. Med. 13: 868-880, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21792059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21792059</a>] [<a href="https://doi.org/10.1097/GIM.0b013e3182217a06" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21792059">Sahoo et al. (2011)</a> concluded that the results from their study, the largest genotype-first analysis of schizophrenia susceptibility loci to that time, suggested that the phenotypic effects of copy number variants associated with schizophrenia are pleiotropic and implied the existence of shared biologic pathways among multiple neurodevelopmental conditions. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20587603+19166990+21792059+19181681" 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="#9" class="mim-tip-reference" title="Kaminsky, E. B., Kaul, V., Paschall, J., Church, D. M., Bunke, B., Kunig, D., Moreno-De-Luca, D., Moreno-De-Luca, A., Mulle, J. G., Warren, S. T., Richard, G., Compton, J. G., and 22 others. <strong>An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.</strong> Genet. Med. 13: 777-784, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21844811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21844811</a>] [<a href="https://doi.org/10.1097/GIM.0b013e31822c79f9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21844811">Kaminsky et al. (2011)</a> presented the largest copy number variant case-control study to that time, comprising 15,749 International Standards for Cytogenomic Arrays cases and 10,118 published controls, focusing on recurrent deletions and duplications involving 14 copy number variant regions. Compared with controls, 14 deletions and 7 duplications were significantly overrepresented in cases, providing a clinical diagnosis as pathogenic. The 1q21.1 deletion was identified in 55 cases and 3 controls for a p value of 5.38 x 10(-9) and a frequency of 1 in 286 cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21844811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Dumas, L. J., O'Bleness, M. S., Davis, J. M., Dickens, C. M., Anderson, N., Keeney, J. G., Jackson, J., Sikela, M., Raznahan, A., Giedd, J., Rapoport, J., Nagamani, S. S. C., Erez, A., Brunetti-Pierri, N., Sugalski, R., Lupski, J. R., Fingerlin, T., Cheung, S. W., Sikela, J. M. <strong>DUF1220-domain copy number implicated in human brain-size pathology and evolution.</strong> Am. J. Hum. Genet. 91: 444-454, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22901949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22901949</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22901949[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.07.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22901949">Dumas et al. (2012)</a> used specialized bioinformatics tools developed for scoring highly duplicated DUF1220 sequences to implement targeted 1q21 array comparative genomic hybridization on 42 individuals with 1q21-associated microcephaly and macrocephaly. <a href="#6" class="mim-tip-reference" title="Dumas, L. J., O'Bleness, M. S., Davis, J. M., Dickens, C. M., Anderson, N., Keeney, J. G., Jackson, J., Sikela, M., Raznahan, A., Giedd, J., Rapoport, J., Nagamani, S. S. C., Erez, A., Brunetti-Pierri, N., Sugalski, R., Lupski, J. R., Fingerlin, T., Cheung, S. W., Sikela, J. M. <strong>DUF1220-domain copy number implicated in human brain-size pathology and evolution.</strong> Am. J. Hum. Genet. 91: 444-454, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22901949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22901949</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22901949[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.07.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22901949">Dumas et al. (2012)</a> showed that of 53 genes in the 1q21 region examined, those with DUF1220 sequences showed the strongest association with brain size among individuals with 1q21-associated microcephaly, particularly with respect to the 3 evolutionarily conserved DUF1220 clades CON1 (p = 0.0079), CON2 (p = 0.0134), and CON3 (p = 0.0116). Interestingly, all 1q21 DUF1220-encoding genes belonging to the NBPF family (e.g., <a href="/entry/610414">610414</a>) showed significant correlations with frontal-occipital circumference Z scores in the deletion group. In a similar survey of a nondisease population, <a href="#6" class="mim-tip-reference" title="Dumas, L. J., O'Bleness, M. S., Davis, J. M., Dickens, C. M., Anderson, N., Keeney, J. G., Jackson, J., Sikela, M., Raznahan, A., Giedd, J., Rapoport, J., Nagamani, S. S. C., Erez, A., Brunetti-Pierri, N., Sugalski, R., Lupski, J. R., Fingerlin, T., Cheung, S. W., Sikela, J. M. <strong>DUF1220-domain copy number implicated in human brain-size pathology and evolution.</strong> Am. J. Hum. Genet. 91: 444-454, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22901949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22901949</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22901949[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.07.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22901949">Dumas et al. (2012)</a> showed that DUF1220 copy number exhibited the strongest correlation with brain gray matter volume (CON1, p = 0.0246 and CON2, p = 0.0334). Notably, only DUF1220 sequences were consistently significant in both disease and nondisease populations. <a href="#6" class="mim-tip-reference" title="Dumas, L. J., O'Bleness, M. S., Davis, J. M., Dickens, C. M., Anderson, N., Keeney, J. G., Jackson, J., Sikela, M., Raznahan, A., Giedd, J., Rapoport, J., Nagamani, S. S. C., Erez, A., Brunetti-Pierri, N., Sugalski, R., Lupski, J. R., Fingerlin, T., Cheung, S. W., Sikela, J. M. <strong>DUF1220-domain copy number implicated in human brain-size pathology and evolution.</strong> Am. J. Hum. Genet. 91: 444-454, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22901949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22901949</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22901949[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.07.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22901949">Dumas et al. (2012)</a> concluded that taken together, their data strongly implicated the loss of DUF1220 copy number in the etiology of 1q21-associated microcephaly and supported the view that DUF1220 domains function as general effectors of evolutionary, pathological, and normal variation in brain size. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22901949" 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 id="1" class="mim-anchor"></a>
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<a id="Autism Genome Project Consortium2007" class="mim-anchor"></a>
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Autism Genome Project Consortium.
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<strong>Mapping autism risk loci using genetic linkage and chromosomal rearrangements.</strong>
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Nature Genet. 39: 319-328, 2007. Note: Erratum: Nature Genet. 39: 1285 only, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17322880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17322880</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17322880" 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/ng1985" target="_blank">Full Text</a>]
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<a id="Bernier2016" class="mim-anchor"></a>
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Bernier, R., Steinman, K. J., Reilly, B., Wallace, A. S., Sherr, E. H., Pojman, N., Mefford, H. C., Gerdts, J., Earl, R., Hanson, E., Goin-Kochel, R. P., Berry, L., and 9 others.
|
|
<strong>Clinical phenotype of the recurrent 1q21.1 copy-number variant.</strong>
|
|
Genet. Med. 18: 341-349, 2016.
|
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26066539/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26066539</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26066539" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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|
|
<div class="">
|
|
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|
|
Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., Shen, J., Kang, S.-H. L., and 28 others.
|
|
<strong>Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.</strong>
|
|
Nature Genet. 40: 1466-1471, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19029900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19029900</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19029900[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=19029900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng.279" target="_blank">Full Text</a>]
|
|
|
|
|
|
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|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Cheroki2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cheroki, C., Krepischi-Santos, A. C. V., Szuhai, K., Brenner, V., Kim, C. A. E., Otto, P. A., Rosenberg, C.
|
|
<strong>Genomic imbalances associated with mullerian aplasia.</strong>
|
|
J. Med. Genet. 45: 228-232, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18039948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18039948</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18039948" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.2007.051839" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Christiansen2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Christiansen, J., Dyck, J. D., Elyas, B. G., Lilley, M., Bamforth, J. S., Hicks, M., Sprysak, K. A., Tomaszewski, R., Haase, S. M., Vicen-Wyhony, L. M., Somerville, M. J.
|
|
<strong>Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.</strong>
|
|
Circ. Res. 94: 1429-1435, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15117819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15117819</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15117819" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1161/01.RES.0000130528.72330.5c" target="_blank">Full Text</a>]
|
|
|
|
|
|
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|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Dumas2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dumas, L. J., O'Bleness, M. S., Davis, J. M., Dickens, C. M., Anderson, N., Keeney, J. G., Jackson, J., Sikela, M., Raznahan, A., Giedd, J., Rapoport, J., Nagamani, S. S. C., Erez, A., Brunetti-Pierri, N., Sugalski, R., Lupski, J. R., Fingerlin, T., Cheung, S. W., Sikela, J. M.
|
|
<strong>DUF1220-domain copy number implicated in human brain-size pathology and evolution.</strong>
|
|
Am. J. Hum. Genet. 91: 444-454, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22901949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22901949</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22901949[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=22901949" 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/j.ajhg.2012.07.016" target="_blank">Full Text</a>]
|
|
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|
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|
|
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|
|
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|
|
|
|
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|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="International Schizophrenia Consortium2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
International Schizophrenia Consortium.
|
|
<strong>Rare chromosomal deletions and duplications increase risk of schizophrenia.</strong>
|
|
Nature 455: 237-241, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18668038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18668038</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18668038" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nature07239" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Itsara2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
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|
|
Itsara, A., Cooper, G. M., Baker, C., Girirajan, S., Li, J., Absher, D., Krauss, R. M., Myers, R. M., Ridker, P. M., Chasman, D. I., Mefford, H., Ying, P., Nickerson, D. A., Eichler, E. E.
|
|
<strong>Population analysis of large copy number variants and hotspots of human genetic disease.</strong>
|
|
Am. J. Hum. Genet. 84: 148-161, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19166990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19166990</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19166990[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=19166990" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ajhg.2008.12.014" target="_blank">Full Text</a>]
|
|
|
|
|
|
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|
|
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|
|
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|
|
|
|
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|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Kaminsky2011" class="mim-anchor"></a>
|
|
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|
|
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|
|
Kaminsky, E. B., Kaul, V., Paschall, J., Church, D. M., Bunke, B., Kunig, D., Moreno-De-Luca, D., Moreno-De-Luca, A., Mulle, J. G., Warren, S. T., Richard, G., Compton, J. G., and 22 others.
|
|
<strong>An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.</strong>
|
|
Genet. Med. 13: 777-784, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21844811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21844811</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21844811" 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/10.1097/GIM.0b013e31822c79f9" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
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|
|
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|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Kirov2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kirov, G., Grozeva, D., Norton, N., Ivanov, D., Mantripragada, K. K., Holmans, P., International Schizophrenia Consortium, the Wellcome Trust Case Control Consortium, Owen, M. J., O'Donovan, M. C.
|
|
<strong>Support for the involvement of large copy number variants in the pathogenesis of schizophrenia.</strong>
|
|
Hum. Molec. Genet. 18: 1497-1503, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19181681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19181681</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19181681[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=19181681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/ddp043" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
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|
|
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|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Mefford2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mefford, H., Sharp, A., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V., Crolla, J., Baralle, D., Collins, A., Mercer, C., and 72 others.
|
|
<strong>Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.</strong>
|
|
New Eng. J. Med. 359: 1685-1699, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18784092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18784092</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18784092[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=18784092" 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/10.1056/NEJMoa0805384" target="_blank">Full Text</a>]
|
|
|
|
|
|
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|
|
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|
|
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|
|
|
|
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|
|
<a id="12" class="mim-anchor"></a>
|
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<a id="Redon2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D., Fiegler, H., Shapero, M. H., Carson, A. R., Chen, W., Cho, E. K., Dallaire, S., and 31 others.
|
|
<strong>Global variation in copy number in the human genome.</strong>
|
|
Nature 444: 444-454, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17122850/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17122850</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17122850[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=17122850" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nature05329" target="_blank">Full Text</a>]
|
|
|
|
|
|
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|
|
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|
|
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|
|
|
|
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|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Sahoo2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
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|
|
Sahoo, T., Theisen, A., Rosenfeld, J. A., Lamb, A. N., Ravnan, J. B., Schultz, R. A., Torchia, B. S., Neill, N., Casci, I., Bejjani, B. A., Shaffer, L. G.
|
|
<strong>Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.</strong>
|
|
Genet. Med. 13: 868-880, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21792059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21792059</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21792059" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1097/GIM.0b013e3182217a06" target="_blank">Full Text</a>]
|
|
|
|
|
|
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|
|
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|
|
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|
|
|
|
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|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Stefansson2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
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|
|
Stefansson, H., Rujescu, D., Cichon, S., Pietilainen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., Buizer-Voskamp, J. E., Hansen, T., Jakobsen, K. D., and 64 others.
|
|
<strong>Large recurrent microdeletions associated with schizophrenia.</strong>
|
|
Nature 455: 232-236, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18668039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18668039</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18668039" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nature07229" target="_blank">Full Text</a>]
|
|
|
|
|
|
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|
|
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|
|
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|
|
|
|
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|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Vassos2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
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|
|
Vassos, E., Collier, D. A., Holden, S., Patch, C., Rujescu, D., St Clair, D., Lewis, C. M.
|
|
<strong>Penetrance for copy number variants associated with schizophrenia.</strong>
|
|
Hum. Molec. Genet. 19: 3477-3481, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20587603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20587603</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20587603" 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/ddq259" target="_blank">Full Text</a>]
|
|
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|
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|
|
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|
|
|
|
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|
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<a id="16" class="mim-anchor"></a>
|
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<a id="Walsh2008" class="mim-anchor"></a>
|
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<div class="">
|
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Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., Stray, S. M., Rippey, C. F., and 24 others.
|
|
<strong>Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia.</strong>
|
|
Science 320: 539-543, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18369103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18369103</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18369103" 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.1155174" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 02/16/2017
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<span class="mim-text-font">
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Ada Hamosh - updated : 09/27/2013<br>Ada Hamosh - updated : 10/4/2012<br>Ada Hamosh - updated : 12/14/2011<br>Ada Hamosh - updated : 6/10/2009<br>Ada Hamosh - updated : 2/23/2009
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Ada Hamosh : 12/12/2008
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carol : 02/16/2017
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alopez : 09/27/2013<br>alopez : 10/4/2012<br>terry : 1/12/2012<br>alopez : 1/11/2012<br>alopez : 1/3/2012<br>terry : 12/14/2011<br>alopez : 10/28/2011<br>alopez : 6/10/2009<br>alopez : 2/25/2009<br>alopez : 2/25/2009<br>terry : 2/23/2009<br>alopez : 12/18/2008<br>alopez : 12/12/2008<br>alopez : 12/12/2008<br>alopez : 12/12/2008
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<strong>#</strong> 612474
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CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
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<strong>SNOMEDCT:</strong> 699305004;
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<strong>ORPHA:</strong> 250989;
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<strong>DO:</strong> 0060411;
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Cytogenetic location: 1q21.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:143,200,001-147,500,000 </span>
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<strong>Gene-Phenotype Relationships</strong>
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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1q21.1
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Chromosome 1q21.1 deletion syndrome
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612474
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Autosomal dominant; Isolated cases
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<span class="mim-font">
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4
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<p>A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome (chr1: 145.0-146.4 Mb, NCBI36).</p><p>See 274000 for another contiguous gene deletion syndrome, thrombocytopenia-absent radius (TAR) syndrome, that maps to a nonoverlapping region of chromosome 1q21.1.</p>
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<strong>Clinical Features</strong>
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<p>Among 21 patients with a 1.35-Mb deletion in chromosome 1q21.1, Mefford et al. (2008) found considerable variability in the level of phenotypic expression of the microdeletion; phenotypes included mild to moderate mental retardation, microcephaly, cardiac abnormalities, and cataracts. The majority of persons with the deletion had a history of mild to moderate developmental delay (16 of 21, 76.2%) and dysmorphic features (17 of 21, 81%), consistent with their ascertainment criteria. Three parents were also mildly affected; however, 5 probands had normal cognitive development, and 4 apparently unaffected parents had the same deletion. In addition, 14 of the 21 patients (66.7%) and 2 parents with the deletion had microcephaly or relative microcephaly. Other phenotypic features noted in more than 1 patient with deletion included ligamentous laxity or joint hypermobility in 5, congenital heart abnormality in 6, hypotonia in 5, seizures in 3, and cataracts in 3. Facial anomalies were quite variable and generally mild. There were no notable phenotypic differences among carriers of a deletion with different breakpoints. Interestingly, this same deletion was recently described in an adult patient with schizophrenia (Walsh et al., 2008). Mefford et al. (2008) mapped the breakpoint in this patient and found it to be identical to that found in their sample of patients. Mefford et al. (2008) noted that they found this deletion in 0.5% of patients with developmental abnormalities studied. </p><p>Brunetti-Pierri et al. (2008) reported an additional 21 probands with a 1q21 microdeletion. Fifteen had the 1.35-Mb deletion and an additional 6 had a deletion involving the 1.35 and the TAR critical region, extending to a total of about 2 Mb (274000). The majority of microdeletions were inherited, and incomplete penetrance was noted. Among the probands and their affected parents microcephaly was described in the majority. The mean frontal occipital circumference (FOC) Z score for microdeletion cases (probands, parents, and sibs carrying the microdeletion) was -2.53 (95% confidence interval = -2.96; -2.11). Statistical analysis of probands only yielded a Z score of -2.55 (95% CI -3.12; -1.98). The authors noted that macrocephaly is seen in the majority of patients with the reciprocal microduplication (612475). Patients with 1q21 microdeletion had frontal bossing, deep-set eyes, and bulbous nose as the most frequent dysmorphic facial features. Numerous other congenital anomalies were detected in some, but not all, cases. Attention deficit-hyperactivity disorder (ADHD), aggressive behavior, and seizure disorders were identified in some. Many of the patients were too young to have full cognitive and behavioral abnormalities identified. Learning disabilities were reported in several of the affected parents. </p><p>Bernier et al. (2016) compared the phenotype of 19 patients with a 1q21.1 deletion and 19 patients with a 1q21.1 duplication (612475) who were ascertained through clinical genetic testing. Deletion and duplication carriers shared several features, including borderline cognitive functioning, impaired fine and gross motor functioning, articulation abnormalities, and hypotonia. In deletion cases, the most common psychiatric disorders included internalizing disorders, such as mood and anxiety disorders (26%). The most commonly reported nonneurologic medical problems included short stature (50%), cataracts (33%), and cardiac problems (33%). In duplication carriers, the most common psychiatric/developmental disorders included autism spectrum disorder (41%), ADHD (29%), and intellectual disability (29%). The most commonly reported nonneurologic medical problems included scoliosis (36%), short stature (27%), and gastric ulcers (27%). Whereas microcephaly was prevalent in deletion carriers, macrocephaly was common in duplication carriers. </p>
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<strong>Molecular Genetics</strong>
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<p>By screening 5,218 patients with unexplained mental retardation, autism, or congenital anomalies for the presence of microdeletions or microduplications in chromosome 1q21.1, Mefford et al. (2008) identified 25 individuals with a recurrent 1.35-Mb deletion. Of the 21 probands without secondary karyotype abnormalities, the 1q21.1 deletion was de novo in 7 (3 with maternal origin, 1 with paternal origin, and 3 with undetermined parental origin), maternally inherited in 3, paternally inherited in 4, and of unknown inheritance (because the parents were unavailable for study) in 7. Three parents with the deletion were apparently unaffected, and 4 were mildly affected. The deletion was absent in a series of 4,737 control persons (p = 1.1 x 10(-7)). This same deletion was identified in 3 individuals from an independent sample of 788 patients with mental retardation and congenital anomalies. The minimally deleted region spans approximately 1.35 Mb on chromosome 1, 143.65 to 145 Mb (according to NCBI build 35), or 145 to 146.35 Mb (according to NCBI build 36) and includes at least 7 genes. The reciprocal duplication (612475) was present in 9 children with mental retardation or autism spectrum disorder (ASD) and other variable features (p = 0.02). Because mutations in the GJA5 (121013) and GJA8 (600897) genes cause cardiac and eye phenotypes, respectively, Mefford et al. (2008) sequenced the remaining alleles of these genes in deletion carriers, but found no mutations. There was no significant difference in epigenetic markings between affected and unaffected deletion carriers. This deletion had been reported in patients with isolated heart defects (Christiansen et al., 2004), cataracts (Redon et al., 2006), mullerian aplasia (Cheroki et al., 2008), autism (Autism Genome Project Consortium, 2007), and schizophrenia (Stefansson et al., 2008, International Schizophrenia Consortium, 2008, and Walsh et al., 2008). Mefford et al. (2008) stated that, while they identified several unaffected deletion carriers, it is possible that apparently unaffected parents who have a 1q21 deletion could have subtle phenotypic features consistent with the deletion that would become evident on further clinical evaluation. In one of their patients subtle cataracts and patent ductus arteriosus were detected only after directive studies were performed upon discovery of the 1q21 deletion. </p><p>Brunetti-Pierri et al. (2008) suggested that the HYDIN paralog located in the 1q21 interval (HYDIN2; 610813) is a dosage-sensitive gene and that deletion of 1 copy is responsible for the microcephaly seen in their group of 21 probands with a 1q21 microdeletion. The HYDIN2 gene is exclusively expressed in brain. </p><p>To investigate large copy number variants (CNVs) segregating at rare frequencies (0.1 to 1.0%) in the general population as candidate neurologic disease loci, Itsara et al. (2009) compared large CNVs found in their study of 2,500 individuals with published data from affected individuals in 9 genomewide studies of schizophrenia, autism, and mental retardation. They found evidence to support the association of deletion in chromosome 1q21 with autism and schizophrenia (CNV p = 1.67 x 10(-4)). They identified 27 CNVs in this region; 24 of these were disease-associated. </p><p>Sahoo et al. (2011) analyzed 38,779 individuals referred to the diagnostic laboratory for microarray testing for the presence of copy number variants encompassing 20 putative schizophrenia susceptibility loci. They also analyzed the indications for study for individuals with copy number variants overlapping those found in 6 individuals referred for schizophrenia. After excluding larger gains or losses that encompassed additional genes outside the candidate loci (e.g., whole-arm gains/losses), Sahoo et al. (2011) identified 1,113 individuals with copy number variants encompassing schizophrenia susceptibility loci and 37 individuals with copy number variants overlapping those present in the 6 individuals referred for schizophrenia. Of these, 1,035 had a copy number variant of 1 of 6 recurrent loci: 1q21.1 (612475), 15q11.2 (608636), 15q13.3 (612001), 16p11.2 (611913), 16p13.11 (610543, 613458), and 22q11.2 (192430, 608363). Sahoo et al. (2011) identified 18 individuals with a 1q21.1 deletion; 12 were de novo, 18 maternally inherited, 15 paternally inherited, and 73 of unknown inheritance. The average age at diagnosis was 7.5 years with an age range of 0.2 to 41 years, and the indications for study included developmental delay, autism, failure to thrive, dysmorphic features, seizures, congenital heart disease, polydactyly, and macrocephaly. Sahoo et al. (2011) studied 107 1q21.1 microdeletion patients among 23,250 cases referred to their laboratory for an incidence of 0.46%, compared with 3 in 5,674 controls, reported by Itsara et al. (2009) (p = less than 0.0001). A previously reported case-control comparison in schizophrenia populations observed a frequency of 0.2% versus 0.023% (Kirov et al., 2009). The frequency reported in a case-control comparison in a variable neurodevelopmental deficit population was 0.47%, similar to that seen in the population of Sahoo et al. (2011), with a control frequency of 0.0% (Vassos et al., 2010). Sahoo et al. (2011) concluded that the results from their study, the largest genotype-first analysis of schizophrenia susceptibility loci to that time, suggested that the phenotypic effects of copy number variants associated with schizophrenia are pleiotropic and implied the existence of shared biologic pathways among multiple neurodevelopmental conditions. </p><p>Kaminsky et al. (2011) presented the largest copy number variant case-control study to that time, comprising 15,749 International Standards for Cytogenomic Arrays cases and 10,118 published controls, focusing on recurrent deletions and duplications involving 14 copy number variant regions. Compared with controls, 14 deletions and 7 duplications were significantly overrepresented in cases, providing a clinical diagnosis as pathogenic. The 1q21.1 deletion was identified in 55 cases and 3 controls for a p value of 5.38 x 10(-9) and a frequency of 1 in 286 cases. </p><p>Dumas et al. (2012) used specialized bioinformatics tools developed for scoring highly duplicated DUF1220 sequences to implement targeted 1q21 array comparative genomic hybridization on 42 individuals with 1q21-associated microcephaly and macrocephaly. Dumas et al. (2012) showed that of 53 genes in the 1q21 region examined, those with DUF1220 sequences showed the strongest association with brain size among individuals with 1q21-associated microcephaly, particularly with respect to the 3 evolutionarily conserved DUF1220 clades CON1 (p = 0.0079), CON2 (p = 0.0134), and CON3 (p = 0.0116). Interestingly, all 1q21 DUF1220-encoding genes belonging to the NBPF family (e.g., 610414) showed significant correlations with frontal-occipital circumference Z scores in the deletion group. In a similar survey of a nondisease population, Dumas et al. (2012) showed that DUF1220 copy number exhibited the strongest correlation with brain gray matter volume (CON1, p = 0.0246 and CON2, p = 0.0334). Notably, only DUF1220 sequences were consistently significant in both disease and nondisease populations. Dumas et al. (2012) concluded that taken together, their data strongly implicated the loss of DUF1220 copy number in the etiology of 1q21-associated microcephaly and supported the view that DUF1220 domains function as general effectors of evolutionary, pathological, and normal variation in brain size. </p>
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<strong>REFERENCES</strong>
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Autism Genome Project Consortium.
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<strong>Mapping autism risk loci using genetic linkage and chromosomal rearrangements.</strong>
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Nature Genet. 39: 319-328, 2007. Note: Erratum: Nature Genet. 39: 1285 only, 2007.
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[PubMed: 17322880]
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[Full Text: https://doi.org/10.1038/ng1985]
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Bernier, R., Steinman, K. J., Reilly, B., Wallace, A. S., Sherr, E. H., Pojman, N., Mefford, H. C., Gerdts, J., Earl, R., Hanson, E., Goin-Kochel, R. P., Berry, L., and 9 others.
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<strong>Clinical phenotype of the recurrent 1q21.1 copy-number variant.</strong>
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Genet. Med. 18: 341-349, 2016.
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[PubMed: 26066539]
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[Full Text: https://doi.org/10.1038/gim.2015.78]
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Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., Shen, J., Kang, S.-H. L., and 28 others.
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<strong>Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.</strong>
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Nature Genet. 40: 1466-1471, 2008.
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[PubMed: 19029900]
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[Full Text: https://doi.org/10.1038/ng.279]
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Cheroki, C., Krepischi-Santos, A. C. V., Szuhai, K., Brenner, V., Kim, C. A. E., Otto, P. A., Rosenberg, C.
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<strong>Genomic imbalances associated with mullerian aplasia.</strong>
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J. Med. Genet. 45: 228-232, 2008.
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[PubMed: 18039948]
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[Full Text: https://doi.org/10.1136/jmg.2007.051839]
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Christiansen, J., Dyck, J. D., Elyas, B. G., Lilley, M., Bamforth, J. S., Hicks, M., Sprysak, K. A., Tomaszewski, R., Haase, S. M., Vicen-Wyhony, L. M., Somerville, M. J.
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<strong>Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.</strong>
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Circ. Res. 94: 1429-1435, 2004.
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[PubMed: 15117819]
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[Full Text: https://doi.org/10.1161/01.RES.0000130528.72330.5c]
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Dumas, L. J., O'Bleness, M. S., Davis, J. M., Dickens, C. M., Anderson, N., Keeney, J. G., Jackson, J., Sikela, M., Raznahan, A., Giedd, J., Rapoport, J., Nagamani, S. S. C., Erez, A., Brunetti-Pierri, N., Sugalski, R., Lupski, J. R., Fingerlin, T., Cheung, S. W., Sikela, J. M.
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<strong>DUF1220-domain copy number implicated in human brain-size pathology and evolution.</strong>
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Am. J. Hum. Genet. 91: 444-454, 2012.
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[PubMed: 22901949]
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[Full Text: https://doi.org/10.1016/j.ajhg.2012.07.016]
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</li>
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<li>
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<p class="mim-text-font">
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International Schizophrenia Consortium.
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<strong>Rare chromosomal deletions and duplications increase risk of schizophrenia.</strong>
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Nature 455: 237-241, 2008.
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[PubMed: 18668038]
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[Full Text: https://doi.org/10.1038/nature07239]
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Itsara, A., Cooper, G. M., Baker, C., Girirajan, S., Li, J., Absher, D., Krauss, R. M., Myers, R. M., Ridker, P. M., Chasman, D. I., Mefford, H., Ying, P., Nickerson, D. A., Eichler, E. E.
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<strong>Population analysis of large copy number variants and hotspots of human genetic disease.</strong>
|
|
Am. J. Hum. Genet. 84: 148-161, 2009.
|
|
|
|
|
|
[PubMed: 19166990]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2008.12.014]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kaminsky, E. B., Kaul, V., Paschall, J., Church, D. M., Bunke, B., Kunig, D., Moreno-De-Luca, D., Moreno-De-Luca, A., Mulle, J. G., Warren, S. T., Richard, G., Compton, J. G., and 22 others.
|
|
<strong>An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.</strong>
|
|
Genet. Med. 13: 777-784, 2011.
|
|
|
|
|
|
[PubMed: 21844811]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/GIM.0b013e31822c79f9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
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|
|
Kirov, G., Grozeva, D., Norton, N., Ivanov, D., Mantripragada, K. K., Holmans, P., International Schizophrenia Consortium, the Wellcome Trust Case Control Consortium, Owen, M. J., O'Donovan, M. C.
|
|
<strong>Support for the involvement of large copy number variants in the pathogenesis of schizophrenia.</strong>
|
|
Hum. Molec. Genet. 18: 1497-1503, 2009.
|
|
|
|
|
|
[PubMed: 19181681]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddp043]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mefford, H., Sharp, A., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V., Crolla, J., Baralle, D., Collins, A., Mercer, C., and 72 others.
|
|
<strong>Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.</strong>
|
|
New Eng. J. Med. 359: 1685-1699, 2008.
|
|
|
|
|
|
[PubMed: 18784092]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMoa0805384]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D., Fiegler, H., Shapero, M. H., Carson, A. R., Chen, W., Cho, E. K., Dallaire, S., and 31 others.
|
|
<strong>Global variation in copy number in the human genome.</strong>
|
|
Nature 444: 444-454, 2006.
|
|
|
|
|
|
[PubMed: 17122850]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature05329]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sahoo, T., Theisen, A., Rosenfeld, J. A., Lamb, A. N., Ravnan, J. B., Schultz, R. A., Torchia, B. S., Neill, N., Casci, I., Bejjani, B. A., Shaffer, L. G.
|
|
<strong>Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.</strong>
|
|
Genet. Med. 13: 868-880, 2011.
|
|
|
|
|
|
[PubMed: 21792059]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/GIM.0b013e3182217a06]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Stefansson, H., Rujescu, D., Cichon, S., Pietilainen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., Buizer-Voskamp, J. E., Hansen, T., Jakobsen, K. D., and 64 others.
|
|
<strong>Large recurrent microdeletions associated with schizophrenia.</strong>
|
|
Nature 455: 232-236, 2008.
|
|
|
|
|
|
[PubMed: 18668039]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature07229]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vassos, E., Collier, D. A., Holden, S., Patch, C., Rujescu, D., St Clair, D., Lewis, C. M.
|
|
<strong>Penetrance for copy number variants associated with schizophrenia.</strong>
|
|
Hum. Molec. Genet. 19: 3477-3481, 2010.
|
|
|
|
|
|
[PubMed: 20587603]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddq259]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
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Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., Stray, S. M., Rippey, C. F., and 24 others.
|
|
<strong>Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia.</strong>
|
|
Science 320: 539-543, 2008.
|
|
|
|
|
|
[PubMed: 18369103]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.1155174]
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