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- #188400 - DIGEORGE SYNDROME; DGS
- OMIM
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<span class="h4">#188400</span>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/188400"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#otherFeatures">Other Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#cytogenetics">Cytogenetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#heterogeneity">Heterogeneity</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#diagnosis">Diagnosis</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalManagement">Clinical Management</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#pathogenesis">Pathogenesis</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=DIGEORGE SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://decipher.sanger.ac.uk/syndrome/16" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=126&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">22q11.2 deletion syndrome&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=32164&Typ=Pat" title="Combined immunodeficiency due to TBX1 deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Combined immunodeficiency …&nbsp;</a></div>
</div>
<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1523/" 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>
<div><a href="https://www.diseaseinfosearch.org/x/20" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=188400[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>
<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>Orphanet</div>
<div id="mimOrphanetFold" class="collapse">
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">22q11.2 deletion syndrome</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=685017" title="Combined immunodeficiency due to TBX1 deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Combined immunodeficiency …</a></div>
</div>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/ee025f5d-ae6c-4325-b7df-e3cced4cd922/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>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:11198" 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>
<div><a href="http://www.informatics.jax.org/disease/188400" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:11198" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:188400" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<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.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 767263007<br />
<strong>ICD10CM:</strong> D82.1<br />
<strong>ICD9CM:</strong> 279.11<br />
<strong>ORPHA:</strong> 567, 685017<br />
<strong>DO:</strong> 11198<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
188400
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
DIGEORGE SYNDROME; DGS
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
CHROMOSOME 22q11.2 DELETION SYNDROME<br />
HYPOPLASIA OF THYMUS AND PARATHYROIDS<br />
THIRD AND FOURTH PHARYNGEAL POUCH SYNDROME
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="includedTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
Other entities represented in this entry:
</span>
</p>
</div>
<div>
<span class="h3 mim-font">
DIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED
</span>
</div>
<div>
<span class="h4 mim-font">
TAKAO VCF SYNDROME, INCLUDED<br />
CATCH22, INCLUDED
</span>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/48?start=-3&limit=10&highlight=48">
22q11.21
</a>
</span>
</td>
<td>
<span class="mim-font">
DiGeorge syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188400"> 188400 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
TBX1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602054"> 602054 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/188400" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/188400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/188400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal 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 />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature (20% of adults) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Weight </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Obesity (35% of adults) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414915002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414915002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414916001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414916001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E66.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E66.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/278.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">278.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028754&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028754</a>, <a href="https://bioportal.bioontology.org/search?q=C4759928&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4759928</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001513" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001513</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001513" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001513</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Micrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Low-set ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95515009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95515009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239234&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239234</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ear,Low-Set-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Abnormal folded pinna <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861140&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861140</a>]</span><br /> -
Middle ear abnormalities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861141&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861141</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000370" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000370</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000370" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000370</a>]</span><br /> -
Hearing deficits (28% of adults) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/103276001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">103276001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15188001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15188001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H91.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1384666&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1384666</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Posterior embryotoxon <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/392437005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">392437005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0546967&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0546967</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000627" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000627</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000627" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000627</a>]</span><br /> -
Tortuous retinal vasculature <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674148&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674148</a>]</span><br /> -
Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Short palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246802000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246802000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423112&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423112</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012745" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012745</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012745" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012745</a>]</span><br /> -
Eyelid hooding <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277348&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277348</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010750</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0030820" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030820</a>]</span><br /> -
Amblyopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/387742006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">387742006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/368.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002418&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002418</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000646" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000646</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000646" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000646</a>]</span><br /> -
Strabismus (15% of adults) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
Exotropia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399252000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399252000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399054005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399054005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.10</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/378.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/378.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015310</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000577</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000577</a>]</span><br /> -
Esophoria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62176008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62176008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.51</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/378.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152216&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152216</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025312" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025312</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025312" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025312</a>]</span><br /> -
Sclerocornea <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853235&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853235</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000647" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000647</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000647" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000647</a>]</span><br /> -
Accommodative esotropia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/194112008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">194112008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/419494007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">419494007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.43</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/378.35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.35</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0155336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0155336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0020046" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0020046</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0020046" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0020046</a>]</span><br /> -
Complicated strabismus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674150</a>]</span><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">
- Blunted nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861144&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861144</a>]</span><br /> -
Short philtrum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861324&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861324</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000322</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=16ecf2e0f23dddf7b8b7cf447ceb827b" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Philtrum,Short-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=16ecf2e0f23dddf7b8b7cf447ceb827b&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- High arched palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=c606b0119d4a894ebd5ee0242c136e29" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Palate,High-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=c606b0119d4a894ebd5ee0242c136e29&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br /> -
Bifid uvula <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18910001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18910001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551488&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551488</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000193" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000193</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000193" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000193</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3c22579bdef4e88303964de87353ca6f" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Uvula,Cleft-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=3c22579bdef4e88303964de87353ca6f&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cardiovascular malformations (26% of adults) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4049796&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4049796</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030680</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030680</a>]</span><br /> -
Tetralogy of Fallot <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86299006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86299006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0039685&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039685</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001636" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001636</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001636" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001636</a>]</span><br /> -
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 /> -
Interrupted aortic arch <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/218728005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">218728005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q25.21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q25.21</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/747.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">747.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152419&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152419</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011611" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011611</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011611" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011611</a>]</span><br /> -
Right aortic arch <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/244229003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">244229003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111321007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111321007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q25.47" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q25.47</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035615</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012020</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012020</a>]</span><br /> -
Ventricular septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30288003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30288003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253549006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253549006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/768552007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">768552007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018818</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</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">
- 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 />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Features </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Umbilical hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396347007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396347007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K42.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/553.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">553.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019322&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019322</a>, <a href="https://bioportal.bioontology.org/search?q=C0041636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</a>]</span><br /> -
Femoral hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50063009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50063009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K41.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K41.90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019288&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019288</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100541" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100541</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100541" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100541</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Biliary Tract </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cholelithiasis (19% of adults) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/266474003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">266474003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/574" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">574</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008350&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008350</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001081" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001081</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001081" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001081</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Inguinal hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396232000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396232000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K40.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40.90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/550" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">550</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019294</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Unilateral renal agenesis <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q60.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q60.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266294</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000122" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000122</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000122" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000122</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41962002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41962002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204942005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204942005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204938007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204938007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/753.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">753.0</a>]</span><br /> -
Renal dysplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204949001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204949001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q61.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q61.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/753.15" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">753.15</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3536714&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3536714</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000110</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000110</a>]</span><br /> -
Hydronephrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43064006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43064006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.30</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">591</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020295</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Scoliosis (47% of adults) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Severe acne (23% of adults) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861151&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861151</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/88616000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">88616000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11381005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11381005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L70.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L70.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L70.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L70</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001061" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001061</a>]</span><br /> -
Seborrhea (35% of adults) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50563003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50563003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1268733004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1268733004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L21</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L21.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L21.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/690.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">690.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/706.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">706.3</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/690.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">690.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5848104&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848104</a>, <a href="https://bioportal.bioontology.org/search?q=C0036508&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036508</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001051" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001051</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001051" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001051</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Mild to moderate learning difficulties <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861133&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861133</a>]</span><br /> -
Delayed psychomotor development <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
Late-onset speech development <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229721007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229721007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241210</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span><br /> -
Tetany <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/10629009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">10629009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R29.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R29.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/781.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0039621&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039621</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001281" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001281</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001281" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001281</a>]</span><br /> -
Seizures (40%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Behavioral Psychiatric Manifestations </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Attention deficit disorder <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7461003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7461003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35253001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35253001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/406506008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">406506008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F90.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F90.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F90.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F90.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/314.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">314.01</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/314" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">314</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/314.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">314.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/314.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">314.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0339002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0339002</a>, <a href="https://bioportal.bioontology.org/search?q=C0041671&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041671</a>, <a href="https://bioportal.bioontology.org/search?q=C1263846&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1263846</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000752" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000752</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0007018" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007018</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007018" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007018</a>]</span><br /> -
Schizophrenia (22% of adults) <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 /> -
Bipolar disorder <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13746004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13746004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F31.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F31.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/296.80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">296.80</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005586&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005586</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007302" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007302</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007302" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007302</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> VOICE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Hypernasal speech <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229645001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229645001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0454555&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0454555</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001611" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001611</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001611" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001611</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ENDOCRINE FEATURES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Parathyroid hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1389851&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1389851</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000860" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000860</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000860" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000860</a>]</span><br /> -
Parathyroid absence <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/73291005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">73291005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1321907&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1321907</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008211" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008211</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008211" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008211</a>]</span><br /> -
Thymic hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/767263007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">767263007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/93297002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">93297002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D82.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D82.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/279.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">279.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0685891&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0685891</a>, <a href="https://bioportal.bioontology.org/search?q=C0012236&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0012236</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000778" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000778</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000778" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000778</a>]</span><br /> -
Thymic aplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91918005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91918005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/702623002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">702623002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1003550007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1003550007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0685894&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0685894</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005359" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005359</a>]</span><br /> -
Accessory thyroid tissue <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861131&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861131</a>]</span><br /> -
Hypothyroidism (20% of adults) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40930008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40930008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E03.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E03.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/244.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">244.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020676&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020676</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000821" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000821</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000821" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000821</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> IMMUNOLOGY </strong>
</span>
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- Immune defect due to a T cell deficit <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861145&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861145</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71922006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71922006</a>]</span><br /> -
Susceptibility to infection <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/102463001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">102463001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521978&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521978</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002719</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002719</a>]</span><br />
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- Neonatal hypocalcemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/268846006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">268846006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0342634&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0342634</a>]</span><br /> -
Hypocalcemia (64% of adults) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5291005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5291005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E83.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E83.51</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/275.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">275.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020598</a>, <a href="https://bioportal.bioontology.org/search?q=C3665624&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665624</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002901" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002901</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002901" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002901</a>]</span><br /> -
T-cell deficit <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861148&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861148</a>]</span><br /> -
85-90% DGS patients have deletion of 22q11.2 <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861149&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861149</a>]</span><br /> -
Other cytogenic abnormalities have been associated with DGS phenotype including monosomy 10p13, 11p13, and 4q21 <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861150</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births<br /> -
Hernia occurs in 22% of adults<br /> -
Usually sporadic disorder resulting from de novo 22q11.2 deletion<br /> -
22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome (<a href="/entry/192430">192430</a>)<br />
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<strong> MOLECULAR BASIS </strong>
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- A contiguous gene syndrome involving deletion of the DiGeorge syndrome chromosome region (DGCR) involving mutations in TUP-like enhancer of split 1 (TUPLE1, <a href="/entry/600237">600237</a>) and DiGeorge critical region gene 2 (DGCR2, <a href="/entry/600594">600594</a>)<br />
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<p>A number sign (#) is used with this entry because DiGeorge syndrome is caused by a 1.5- to 3.0-Mb heterozygous deletion of chromosome 22q11.2. Haploinsufficiency of the TBX1 gene (<a href="/entry/602054">602054</a>) in particular is responsible for most of the physical malformations. There is evidence that point mutations in the TBX1 gene can also cause the disorder.</p>
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<strong>Description</strong>
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<p>DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS; <a href="/entry/192430">192430</a>); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see <a href="/entry/601362">601362</a>). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.</p>
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<p>DiGeorge syndrome overlaps clinically with the disorder described by the Japanese as 'conotruncal anomaly face syndrome' (<a href="#64" class="mim-tip-reference" title="Kinouchi, A., Mori, K., Ando, M., Takao, A. &lt;strong&gt;Facial appearance of patients with conotruncal abnormalities..&lt;/strong&gt; Pediat. Jpn. 17: 84, 1976."None>Kinouchi et al., 1976</a>; <a href="#112" class="mim-tip-reference" title="Takao, A., Ando, M., Cho, K., Kinouchi, A., Murakami, Y. &lt;strong&gt;Etiologic categorization of common congenital heart disease.In: Van Praagh, R.; Takao, A. (eds.) : Etiology and Morphogenesis of Congenital Heart Disease.&lt;/strong&gt; Mount Kisco, N. Y.: Futura Publishing Company (pub.) 1980. Pp. 253-269."None>Takao et al., 1980</a>; <a href="#103" class="mim-tip-reference" title="Shimizu, T., Takao, A., Ando, M., Hirayama, A. &lt;strong&gt;Conotruncal face syndrome: its heterogeneity and association with thymus involution.In: Nora, J. J.; Takao, A. : Congenital Heart Disease: Causes and Processes.&lt;/strong&gt; Mount Kisco, N. Y.: Futura Publishing (pub.) 1984. Pp. 29-41."None>Shimizu et al., 1984</a>), where the cardiovascular presentation is the focus of attention. The term conotruncal anomaly face syndrome is cumbersome and has the disadvantage of using embryologic assumptions as a title. It would be appropriate to use Takao syndrome for those cases with a preponderant cardiac presentation in contrast to the low T cell and hypocalcemic presentation in infancy of DiGeorge syndrome and the craniofacial and palatal abnormalities typical of Shprintzen syndrome. These 3 phenotypes may be seen in the same family and most cases of all 3 categories have been shown to have a 22q11 deletion. This led <a href="#117" class="mim-tip-reference" title="Wilson, D. I., Burn, J., Scambler, P., Goodship, J. &lt;strong&gt;DiGeorge syndrome, part of CATCH 22.&lt;/strong&gt; J. Med. Genet. 30: 852-856, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8230162/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8230162&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.30.10.852&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8230162">Wilson et al. (1993)</a> to propose the acronym CATCH22 (Cardiac Abnormality/abnormal facies, T cell deficit due to thymic hypoplasia, Cleft palate, Hypocalcemia due to hypoparathyroidism resulting from 22q11 deletion) as a collective acronym for those with the common genetic etiology. <a href="#104" class="mim-tip-reference" title="Shprintzen, R. J. &lt;strong&gt;Velocardiofacial syndrome and DiGeorge sequence. (Letter)&lt;/strong&gt; J. Med. Genet. 31: 423-424, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8064827/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8064827&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.31.5.423-b&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8064827">Shprintzen (1994)</a> objected to 'lumping' velocardiofacial syndrome with the DiGeorge anomaly, arguing that there is 'no valid evidence to suggest that velocardiofacial syndrome is etiologically heterogeneous...[whereas] the DiGeorge anomaly is known to be so.' <a href="#54" class="mim-tip-reference" title="Hall, J. G. &lt;strong&gt;CATCH 22.&lt;/strong&gt; J. Med. Genet. 30: 801-802, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8230153/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8230153&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.30.10.801&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8230153">Hall (1993)</a> cited data of <a href="#31" class="mim-tip-reference" title="Driscoll, D. A., Salvin, J., Sellinger, B., Budarf, M. L., McDonald-McGinn, D. M., Zackai, E. H., Emanuel, B. S. &lt;strong&gt;Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.&lt;/strong&gt; J. Med. Genet. 30: 813-817, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8230155/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8230155&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.30.10.813&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8230155">Driscoll et al. (1993)</a> indicating that velocardiofacial syndrome is etiologically heterogeneous. She stated that '...68% of Shprintzen syndrome patients...have been recognised to have deletions of 22q11.' <a href="#104" class="mim-tip-reference" title="Shprintzen, R. J. &lt;strong&gt;Velocardiofacial syndrome and DiGeorge sequence. (Letter)&lt;/strong&gt; J. Med. Genet. 31: 423-424, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8064827/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8064827&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.31.5.423-b&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8064827">Shprintzen (1994)</a> refuted her statement, maintaining that it could accurately be stated that deletion was found in 68% of patients sent to the Driscoll laboratory with a diagnosis of velocardiofacial syndrome made by other clinicians. <a href="#104" class="mim-tip-reference" title="Shprintzen, R. J. &lt;strong&gt;Velocardiofacial syndrome and DiGeorge sequence. (Letter)&lt;/strong&gt; J. Med. Genet. 31: 423-424, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8064827/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8064827&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.31.5.423-b&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8064827">Shprintzen (1994)</a> said that in his sample, 100% had deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8064827+8230155+8230162+8230153" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Burn, J. &lt;strong&gt;Closing time for CATCH22.&lt;/strong&gt; J. Med. Genet. 36: 737-738, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10528851/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10528851&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.36.10.737&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10528851">Burn (1999)</a>, one of the original proposers of the acronym CATCH22, reviewed the discussion of nomenclature. He recognized that the term CATCH22 had a number of negative connotations and that in practice different terms were in use for this phenotype and would continue to be so. <a href="#15" class="mim-tip-reference" title="Burn, J. &lt;strong&gt;Closing time for CATCH22.&lt;/strong&gt; J. Med. Genet. 36: 737-738, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10528851/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10528851&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.36.10.737&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10528851">Burn (1999)</a> proposed that the term DiGeorge syndrome be reserved for those with neonatal presentation, particularly with thymic hypoplasia and hypocalcemia, and that the designation VCFS be used for children with a presentation dominated by nasal speech due to palatal insufficiency. He also suggested that 'conotruncal anomaly face' be replaced by 'Takao syndrome' and pointed out that the term '22q11 deletion syndrome' was reasonable. Finally, <a href="#15" class="mim-tip-reference" title="Burn, J. &lt;strong&gt;Closing time for CATCH22.&lt;/strong&gt; J. Med. Genet. 36: 737-738, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10528851/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10528851&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.36.10.737&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10528851">Burn (1999)</a> proposed that 'CATCH phenotype' be used rather than CATCH22 and that the acronym be taken to represent cardiac abnormality, T cell deficit, clefting, and hypocalcemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10528851" 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>DiGeorge syndrome is characterized by neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells. The immune deficit is caused by hypoplasia or aplasia of the thymus gland. A variety of cardiac malformations are seen in particular affecting the outflow tract. These include tetralogy of Fallot, type B interrupted aortic arch, truncus arteriosus, right aortic arch and aberrant right subclavian artery. In infancy, micrognathia may be present. The ears are typically low set and deficient in the vertical diameter with abnormal folding of the pinna. Telecanthus with short palpebral fissures is seen. Both upward and downward slanting eyes have been described. The philtrum is short and the mouth relatively small. In the older child the features overlap Shprintzen syndrome (velocardiofacial syndrome) with a rather bulbous nose and square nasal tip and hypernasal speech associated with submucous or overt palatal clefting. Cases presenting later tend to have a milder spectrum of cardiac defect with ventricular septal defect being common.</p><p>Short stature and variable mild to moderate learning difficulties are common. A variety of psychiatric disorders have been described in a small proportion of adult cases of velocardiofacial syndrome. These have included paranoid schizophrenia and major depressive illness. Clinical features seen more rarely include hypothyroidism, cleft lip, and deafness.</p><p><a href="#46" class="mim-tip-reference" title="Goodship, J., Cross, I., Scambler, P., Burn, J. &lt;strong&gt;Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.&lt;/strong&gt; J. Med. Genet. 32: 746-748, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8544199/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8544199&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.32.9.746&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8544199">Goodship et al. (1995)</a> described monozygotic twin brothers with precisely the same 22q11.2 deletion but somewhat discordant clinical phenotype. Both twins had a small mouth, square nasal tip, short palpebral fissures, and small ears with deficient upper helices. Twin 1 had bilateral hair whorls and twin 2 had a right-sided hair whorl. Toes 4 and 5 were curled under bilaterally in both boys, this being more marked in twin 1. The twins were said to have had a single placenta although the findings of a detailed examination were not recorded. Twin 1 weighed 2,200 g and twin 2 weighed 2,800 g. Twin 1 had tetralogy of Fallot, which was repaired at 1 year of age. Twin 2 had a normal cardiovascular system. Twin 1 started taking steps at 24 months of age, while his brother stood at 13 months and walked steadily at 18 months. These observations indicated to <a href="#46" class="mim-tip-reference" title="Goodship, J., Cross, I., Scambler, P., Burn, J. &lt;strong&gt;Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.&lt;/strong&gt; J. Med. Genet. 32: 746-748, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8544199/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8544199&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.32.9.746&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8544199">Goodship et al. (1995)</a> that differences in deletion size and modifying genetic loci are not responsible for all the phenotypic differences observed in CATCH22. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8544199" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#116" class="mim-tip-reference" title="Vincent, M.-C., Heitz, F., Tricoire, J., Bourrouillou, G., Kuhlein, E., Rolland, M., Calvas, P. &lt;strong&gt;22q deletion in DGS/VCFS monozygotic twins with discordant phenotypes.&lt;/strong&gt; Genet. Counsel. 10: 43-49, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10191428/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10191428&lt;/a&gt;]" pmid="10191428">Vincent et al. (1999)</a> reported the case of female monozygotic twins with 22q11 deletions. The twins shared facial characteristics of DGS/VCFS and immunologic defect. However, only one, who died on day 5, had a cardiac defect, composed of an interrupted aortic arch with a ventricular septal defect, a truncus arteriosus, and a large arterial duct. The authors stated that this was the fourth report of a discrepant cardiac status between monozygotic twins harboring 22q11 deletions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10191428" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#120" class="mim-tip-reference" title="Wilson, D. I., Goodship, J. A., Burn, J., Cross, I. E., Scambler, P. J. &lt;strong&gt;Deletions within chromosome 22q11 in familial congenital heart disease.&lt;/strong&gt; Lancet 340: 573-575, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1355155/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1355155&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0140-6736(92)92107-q&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1355155">Wilson et al. (1992)</a> looked for deletions in 9 families with 2 or more cases of outflow tract heart defects. In 5 of the families, chromosome 22 deletions were detected in all living affected persons studied and also in the clinically normal father of 3 affected children. The deletion was transmitted from parents to offspring and was associated with an increase in the severity of cardiac defects. No deletions were found in 4 families in which the parents were normal and affected sibs had anatomically identical defects, presumably an autosomal recessive form of congenital heart defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1355155" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#37" class="mim-tip-reference" title="Fokstuen, S., Arbenz, U., Artan, S., Dutly, F., Bauersfeld, U., Brecevic, L., Fasnacht, M., Rothlisberger, B., Schinzel, A. &lt;strong&gt;22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin.&lt;/strong&gt; Clin. Genet. 53: 63-69, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9550365/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9550365&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1034/j.1399-0004.1998.531530113.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9550365">Fokstuen et al. (1998)</a> analyzed 110 patients with nonselective syndromic or isolated nonfamilial congenital heart malformations by fluorescence in situ hybridization using the D22S75 DGS region probe. A 22q11.2 microdeletion was detected in 9 of 51 (17.6%) syndromic patients. Five were of maternal origin and 4 of paternal origin. None of the 59 patients with isolated congenital cardiac defect had the 22q11.2 deletion. In a study of 157 consecutively catheterized patients with isolated, nonsyndromic cardiac defects, and 25 patients with cardiac malformation and additional abnormalities (10 of whom had been clinically diagnosed as DiGeorge syndrome or velocardiofacial syndrome), <a href="#11" class="mim-tip-reference" title="Borgmann, S., Luhmer, I., Arslan-Kirchner, M., Kallfelz, H.-C., Schmidtke, J. &lt;strong&gt;A search for chromosome 22q11.2 deletions in a series of 176 consecutively catheterized patients with congenital heart disease: no evidence for deletions in non-syndromic patients.&lt;/strong&gt; Europ. J. Pediat. 158: 958-963, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10592069/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10592069&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004310051257&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10592069">Borgmann et al. (1999)</a> found the 22q11.2 microdeletion only in the latter group. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9550365+10592069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#57" class="mim-tip-reference" title="Jawad, A. F., McDonald-McGinn, D. M., Zackai, E., Sullivan, K. E. &lt;strong&gt;Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).&lt;/strong&gt; J. Pediat. 139: 715-723, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11713452/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11713452&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1067/mpd.2001.118534&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11713452">Jawad et al. (2001)</a> studied 195 patients with chromosome 22q11 deletion syndrome and found that diminished T-cell counts in the peripheral blood are common. The pattern of changes seen with aging in normal control patients was also seen in patients with the chromosome 22q11.2 deletion syndrome, although the decline in T cells was blunted. Autoimmune disease was seen in most age groups, although the types of disorders varied according to age. Infections were also common in older patients, although they were seldom life-threatening. Juvenile rheumatoid arthritis with onset between 1.5 and 6 years of age was seen in 4 of the 195 patients; idiopathic thrombocytopenia purpura with onset at 1 to 8 years of age was seen in 8 of 195 patients; autoimmune hemolytic anemia, psoriasis, vitiligo, inflammatory bowel disease, adult rheumatoid arthritis, and rheumatic fever with chorea were each seen in 1 patient of the 195 patients sampled. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11713452" 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="#60" class="mim-tip-reference" title="Kawame, H., Adachi, M., Tachibana, K., Kurosawa, K., Ito, F., Gleason, M. M., Weinzimer, S., Levitt-Katz, L., Sullivan, K., McDonald-McGinn, D. M. &lt;strong&gt;Graves&#x27; disease in patients with 22q11.2 deletion.&lt;/strong&gt; J. Pediat. 139: 892-895, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11743521/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11743521&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1067/mpd.2001.119448&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11743521">Kawame et al. (2001)</a> reported 5 patients with chromosome 22q11.2 deletion that manifested Graves disease between the ages of 27 months and 16 years, and suggested that Graves disease may be part of the clinical spectrum of this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11743521" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Bassett, A. S., Chow, E. W. C., Husted, J., Weksberg, R., Caluseriu, O., Webb, G. D., Gatzoulis, M. A. &lt;strong&gt;Clinical features of 78 adults with 22q11 deletion syndrome.&lt;/strong&gt; Am. J. Med. Genet. 138A: 307-313, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16208694/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16208694&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16208694[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30984&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16208694">Bassett et al. (2005)</a> described the phenotypic features of 78 adults with 22q11 deletion syndrome and identified 43 distinct features present in more than 5% of patients. Common characteristic features included intellectual disabilities (92.3%), hypocalcemia (64%), palatal anomalies (42%), and cardiovascular anomalies (25.8%). Other less commonly appreciated features included obesity (35%), hypothyroidism (20.5%), hearing deficits (28%), cholelithiasis (19%), scoliosis (47%), and dermatologic abnormalities (severe acne, 23%; seborrhea, 35%). Significantly, schizophrenia was present in 22.6% of patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16208694" 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="#76" class="mim-tip-reference" title="Maalouf, N. M., Sakhaee, K., Odvina, C. V. &lt;strong&gt;A case of chromosome 22q11 deletion syndrome diagnosed in a 32-year-old man with hypoparathyroidism.&lt;/strong&gt; J. Clin. Endocr. Metab. 89: 4817-4820, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15472168/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15472168&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jc.2004-0442&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15472168">Maalouf et al. (2004)</a> reported an African American male diagnosed at age 32 years with dysgenesis of the parathyroid glands due to a chromosome 22 microdeletion. Symptomatic hypocalcemia did not develop until age 14 years, a few weeks after initiation of anticonvulsant therapy for generalized tonic-clonic seizures. Because of the timing for onset of symptomatic hypocalcemia, it was presumed that the patient had anticonvulsant-induced hypocalcemia, and he carried that diagnosis for 18 years. Chromosome 22q11 deletion syndrome was first suspected at age 32 years. The diagnosis was confirmed by fluorescence in situ hybridization analysis. This case underscores the variable clinical presentation of this congenital form of hypoparathyroidism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15472168" 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="#65" class="mim-tip-reference" title="Kousseff, B. G. &lt;strong&gt;Sacral meningocele with conotruncal heart defects: a possible autosomal recessive trait.&lt;/strong&gt; Pediatrics 74: 395-398, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6472972/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6472972&lt;/a&gt;]" pmid="6472972">Kousseff (1984)</a> described 3 sibs with a syndrome of sacral meningocele, conotruncal cardiac defects, unilateral renal agenesis (in 1 sib), low-set and posteriorly angulated ears, retrognathia, and short neck with low posterior hairline. <a href="#65" class="mim-tip-reference" title="Kousseff, B. G. &lt;strong&gt;Sacral meningocele with conotruncal heart defects: a possible autosomal recessive trait.&lt;/strong&gt; Pediatrics 74: 395-398, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6472972/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6472972&lt;/a&gt;]" pmid="6472972">Kousseff (1984)</a> suggested autosomal recessive inheritance. <a href="#114" class="mim-tip-reference" title="Toriello, H. V., Sharda, J. K., Beaumont, E. J. &lt;strong&gt;Autosomal recessive syndrome of sacral and conotruncal developmental field defects (Kousseff syndrome).&lt;/strong&gt; Am. J. Med. Genet. 22: 357-360, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4050868/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4050868&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320220220&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4050868">Toriello et al. (1985)</a> reported a similar, isolated case and designated the disorder Kousseff syndrome. <a href="#39" class="mim-tip-reference" title="Forrester, S., Kovach, M. J., Smith, R. E., Rimer, L., Wesson, M. &lt;strong&gt;Kousseff syndrome caused by deletion of chromosome 22q11-13.&lt;/strong&gt; Am. J. Med. Genet. 112: 338-342, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12376934/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12376934&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.10625&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12376934">Forrester et al. (2002)</a> restudied the family reported by <a href="#65" class="mim-tip-reference" title="Kousseff, B. G. &lt;strong&gt;Sacral meningocele with conotruncal heart defects: a possible autosomal recessive trait.&lt;/strong&gt; Pediatrics 74: 395-398, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6472972/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6472972&lt;/a&gt;]" pmid="6472972">Kousseff (1984)</a> and identified a 22q11-q13 deletion in the proband, his deceased brother, and his father. The proband had spina bifida, shunted hydrocephalus, cleft palate, short stature, cognitive impairment, and the typical craniofacial features of velocardiofacial syndrome, including low-set and dysplastic ears, broad base of the nose, narrow alae nasi, and retrognathia. His brother had died at 2 weeks of age with myelomeningocele, hydrocephalus, transposition of the great vessels, and unilateral renal agenesis, and his sister had died at 22 days of age with myelomeningocele, truncus arteriosus, hypocalcemia, and autopsy findings of absent thymus and parathyroid glands, consistent with DiGeorge anomaly. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6472972+4050868+12376934" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#77" class="mim-tip-reference" title="Maclean, K., Field, M. J., Colley, A. S., Mowat, D. R., Sparrow, D. B., Dunwoodie, S. L., Kirk, E. P. E. &lt;strong&gt;Kousseff syndrome: a causally heterogeneous disorder.&lt;/strong&gt; Am. J. Med. Genet. 124A: 307-312, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14708106/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14708106&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.20418&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14708106">Maclean et al. (2004)</a> reported 2 unrelated patients with Kousseff syndrome, 1 with a 22q11.2 deletion and the other without. The first was a 4-year-old girl with a sacral myelomeningocele, tetralogy of Fallot, microcephaly, hydrocephalus, hypoplasia of the corpus callosum, and moderate developmental delay, who had a normal chromosome 22q11.2 FISH test and did not exhibit the facial phenotype of VCFS. The second patient, a male infant who died at 10 days of age, had a large sacral myelomeningocele, hydrocephalus, Arnold-Chiari malformation, atrial septal defect, conoventricular ventricular septal defect, type B interrupted aortic arch, hypocalcemia, and suspected duodenal stenosis; FISH testing revealed a 22q11.2 microdeletion. <a href="#77" class="mim-tip-reference" title="Maclean, K., Field, M. J., Colley, A. S., Mowat, D. R., Sparrow, D. B., Dunwoodie, S. L., Kirk, E. P. E. &lt;strong&gt;Kousseff syndrome: a causally heterogeneous disorder.&lt;/strong&gt; Am. J. Med. Genet. 124A: 307-312, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14708106/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14708106&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.20418&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14708106">Maclean et al. (2004)</a> concluded that Kousseff syndrome is a distinct clinical entity that is genetically heterogeneous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14708106" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#66" class="mim-tip-reference" title="Kujat, A., Schulz, M. D., Strenge, S., Froster, U. G. &lt;strong&gt;Renal malformations in deletion 22q11.2 patients. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 140A: 1601-1602, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16761295/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16761295&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31289&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16761295">Kujat et al. (2006)</a> reported that 5 (83%) of 6 patients with a 22q11.2 microdeletion had renal anomalies, including renal dysplasia, hydronephrosis, and unilateral renal agenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16761295" 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="#93" class="mim-tip-reference" title="Robin, N. H., Taylor, C. J., McDonald-McGinn, D. M., Zackai, E. H., Bingham, P., Collins, K. J., Earl, D., Gill, D., Granata, T., Guerrini, R., Katz, N., Kimonis, V., and 13 others. &lt;strong&gt;Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.&lt;/strong&gt; Am. J. Med. Genet. 140A: 2416-2425, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17036343/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17036343&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31443&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17036343">Robin et al. (2006)</a> reviewed clinical data including brain imaging on 21 patients with polymicrogyria associated with deletion 22q11.2 and another 11 patients from the literature. The authors found that the cortical malformation consisted of perisylvian polymicrogyria of variable severity and frequent asymmetry with a striking predisposition for the right hemisphere (p = 0.008). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17036343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#38" class="mim-tip-reference" title="Forbes, B. J., Binenbaum, G., Edmond, J. C., DeLarato, N., McDonald-McGinn, D. M., Zackai, E. H. &lt;strong&gt;Ocular findings in the chromosome 22q11.2 deletion syndrome.&lt;/strong&gt; J. Am. Assoc. Pediat. Ophthal. Strabismus 11: 179-182, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17140829/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17140829&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.jaapos.2006.08.006&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17140829">Forbes et al. (2007)</a> reported the ocular features of 90 consecutive patients with confirmed 22q11.2 deletion syndrome. Posterior embryotoxon was found in 49%, tortuous retinal vessels in 34%, eyelid hooding in 20%, strabismus in 18%, ptosis in 4%, amblyopia in 4%, and tilted optic nerves in 1%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17140829" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#111" class="mim-tip-reference" title="Sundaram, U. T., McDonald-McGinn, D. M., Huff, D., Emanuel, B. S., Zackai, E. H., Driscoll, D. A., Bodurtha, J. &lt;strong&gt;Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome.&lt;/strong&gt; Am. J. Med. Genet. 143A: 2016-2018, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17676598/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17676598&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31736&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17676598">Sundaram et al. (2007)</a> described 2 patients with 22q11.2 deletion who had absent uterus and unilateral renal agenesis. One patient also had mild developmental delay, hypoparathyroidism, and psychiatric symptoms; the other patient also had high-arched palate, bulbous nasal tip, bicuspid aortic valve, short stature, and primary amenorrhea. <a href="#111" class="mim-tip-reference" title="Sundaram, U. T., McDonald-McGinn, D. M., Huff, D., Emanuel, B. S., Zackai, E. H., Driscoll, D. A., Bodurtha, J. &lt;strong&gt;Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome.&lt;/strong&gt; Am. J. Med. Genet. 143A: 2016-2018, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17676598/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17676598&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31736&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17676598">Sundaram et al. (2007)</a> suggested that mullerian or uterine/vaginal agenesis be included as part of the clinical spectrum of 22q11.2 deletion syndrome. <a href="#99" class="mim-tip-reference" title="Scheuerle, A. &lt;strong&gt;Teenager with uterine didelphys, absent kidney and 22q11.2 deletion. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 146A: 800-801, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18247424/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18247424&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32224&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18247424">Scheuerle (2008)</a> reported a 14-year-old Latin American girl with 22q11.2 deletion syndrome who was found to have unilateral renal agenesis, uterine didelphys with duplication of the cervix, and imperforate vaginal hymen with hematometrocolpos. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18247424+17676598" 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="Binenbaum, G., McDonald-McGinn, D. M., Zackai, E. H., Walker, B. M., Coleman, K., Mach, A. M., Adam, M., Manning, M., Alcorn, D. M., Zabel, C., Anderson, D. R., Forbes, B. J. &lt;strong&gt;Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.&lt;/strong&gt; Am. J. Med. Genet. 146A: 904-909, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18324686/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18324686&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32156&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18324686">Binenbaum et al. (2008)</a> reported 4 boys and 3 girls with 22q11.2 deletion syndrome, including 5 who had bilateral sclerocornea. Other eye findings included descemetocele in 5 eyes, microphthalmia in 1 eye, severe anterior segment dysgenesis in 1 eye, and bilateral iridocorneal adhesions in 1 patient. <a href="#9" class="mim-tip-reference" title="Binenbaum, G., McDonald-McGinn, D. M., Zackai, E. H., Walker, B. M., Coleman, K., Mach, A. M., Adam, M., Manning, M., Alcorn, D. M., Zabel, C., Anderson, D. R., Forbes, B. J. &lt;strong&gt;Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.&lt;/strong&gt; Am. J. Med. Genet. 146A: 904-909, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18324686/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18324686&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32156&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18324686">Binenbaum et al. (2008)</a> suggested that a genetic locus at chromosome 22q11.2 may be involved in anterior segment embryogenesis, and that sclerocornea should be added to the clinical manifestations of the 22q11.2 deletion syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18324686" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Cheung, E. N. M., George, S. R., Andrade, D. M., Chow, E. W. C., Silversides, C. K., Bassett, A. S. &lt;strong&gt;: Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome.&lt;/strong&gt; Genet. Med. 16: 40-44, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23765047/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23765047&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/gim.2013.71&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23765047">Cheung et al. (2014)</a> used a logistic regression model to investigate potential predictors of intellectual disability severity, including neonatal hypocalcemia, neonatal seizures, and complex congenital heart disease in 149 adults with 22q11.2 deletion syndrome, 10 of whom had moderate to severe intellectual disability. The model was highly significant (p less than 0.0001), showing neonatal seizures (p = 0.0018) and neonatal hypocalcemia (p = 0.047) to be significant predictors of a more severe level of intellectual disability. Neonatal seizures were significantly associated with hypocalcemia in the entire sample, regardless of intellectual level. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23765047" 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>Hypocalcemia secondary to hypoparathyroidism is the key biochemical feature and may be sufficiently severe to be symptomatic. Resolution in early childhood is typical, although the deficient function of the parathyroids may be exposed in adulthood by infusion of disodium edetate (EDTA) (<a href="#43" class="mim-tip-reference" title="Gidding, S. S., Minciotti, A. L., Langman, C. B. &lt;strong&gt;Unmasking of hypoparathyroidism in familial partial DiGeorge syndrome by challenge with disodium edetate.&lt;/strong&gt; New Eng. J. Med. 319: 1589-1591, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3143912/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3143912&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198812153192407&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3143912">Gidding et al., 1988</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3143912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The patient of <a href="#43" class="mim-tip-reference" title="Gidding, S. S., Minciotti, A. L., Langman, C. B. &lt;strong&gt;Unmasking of hypoparathyroidism in familial partial DiGeorge syndrome by challenge with disodium edetate.&lt;/strong&gt; New Eng. J. Med. 319: 1589-1591, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3143912/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3143912&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198812153192407&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3143912">Gidding et al. (1988)</a> had isolated conotruncal cardiac defect and, despite normal baseline ionized calcium and midmolecule parathyroid hormone levels, she failed to increase the secretion of midmolecular parathyroid hormone appropriately in response to a hypocalcemic challenge. They speculated that this combination of latent-hypoparathyroidism (LHP) and conotruncal cardiac defects should be included in the clinical spectrum of DiGeorge anomaly. Indeed, this woman's fourth child died with DiGeorge anomaly. Seven years after the report by <a href="#43" class="mim-tip-reference" title="Gidding, S. S., Minciotti, A. L., Langman, C. B. &lt;strong&gt;Unmasking of hypoparathyroidism in familial partial DiGeorge syndrome by challenge with disodium edetate.&lt;/strong&gt; New Eng. J. Med. 319: 1589-1591, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3143912/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3143912&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198812153192407&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3143912">Gidding et al. (1988)</a>, <a href="#22" class="mim-tip-reference" title="Cuneo, B. F., Driscoll, D. A., Gidding, S. S., Langman, C. B. &lt;strong&gt;Evolution of latent hypoparathyroidism in familial 22q11 deletion syndrome.&lt;/strong&gt; Am. J. Med. Genet. 69: 50-55, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9066883/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9066883&lt;/a&gt;]" pmid="9066883">Cuneo et al. (1997)</a> restudied the index patient with LHP and evaluated 3 generations of her family for parathyroid dysfunction, cardiac anomalies, and del22q11. Deletions were found in 6 relatives, 3 with conotruncal cardiac defects and 3 with a structurally normal heart. They found significant transgenerational noncardiac phenotypic variability, including learning difficulties, dysmorphic facial appearance, and psychiatric illness. A spectrum of parathyroid gland dysfunction associated with the del22(q11) was seen, ranging from hypocalcemic hypoparathyroidism to normocalcemia with abnormally low basal intact parathyroid hormone levels. In addition, LPH found in the index patient 7 years previously had evolved to frank hypocalcemic hypoparathyroidism. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9066883+3143912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The deficit in thymic function results in a lack of T cells which may be demonstrated by measuring the proportion of CD4 cells (<a href="#117" class="mim-tip-reference" title="Wilson, D. I., Burn, J., Scambler, P., Goodship, J. &lt;strong&gt;DiGeorge syndrome, part of CATCH 22.&lt;/strong&gt; J. Med. Genet. 30: 852-856, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8230162/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8230162&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.30.10.852&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8230162">Wilson et al., 1993</a>). Immunohistochemical analysis of the parathyroids reveals a deficit of thyrocalcitonin immunoreactive cells (C cells) (<a href="#85" class="mim-tip-reference" title="Palacios, J., Gamallo, C., Garcia, M., Rodriguez, J. I. &lt;strong&gt;Decrease in thyrocalcitonin-containing cells and analysis of other congenital anomalies in 11 patients with DiGeorge anomaly.&lt;/strong&gt; Am. J. Med. Genet. 46: 641-646, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8362905/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8362905&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320460608&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8362905">Palacios et al., 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8230162+8362905" 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="#69" class="mim-tip-reference" title="Levy, A., Michel, G., Lemerrer, M., Philip, N. &lt;strong&gt;Idiopathic thrombocytopenic purpura in two mothers of children with DiGeorge sequence: a new component manifestation of deletion 22q11?&lt;/strong&gt; Am. J. Med. Genet. 69: 356-359, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9098482/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9098482&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19970414)69:4&lt;356::aid-ajmg4&gt;3.0.co;2-j&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9098482">Levy et al. (1997)</a> stated that 10 to 25% of parents of patients with DGS exhibit the 22q11 deletion but are nearly asymptomatic. The authors described 2 female patients carrying a 22q11 microdeletion who presented with idiopathic thrombocytopenic purpura. Both had children with typical manifestations of DGS. The possibility that defective thymic function predisposes patients with DGS to autoimmune diseases was raised. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9098482" 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="#33" class="mim-tip-reference" title="Evers, L. J. M., Vermaak, M. P., Engelen, J. J. M., Curfs, L. M. G. &lt;strong&gt;The velocardiofacial syndrome in older age: dementia and autistic features.&lt;/strong&gt; Genet. Counsel. 17: 333-340, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17100202/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17100202&lt;/a&gt;]" pmid="17100202">Evers et al. (2006)</a> reported a 52-year-old man with 22q11.2 deletion. As a child he showed learning disabilities and behavioral problems. As a young adult, he exhibited aggressive outbursts, apathy, echolalia, perseverations, and psychotic features, including delusional thoughts and hallucinations, necessitating long-term care in a psychiatric facility. Since then, he has demonstrated aggressive behavior, periods of withdrawal, and progressive cognitive decline consistent with dementia, particularly since the age of 36 years. An affected autistic sister also had the deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17100202" 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>DiGeorge syndrome is usually sporadic and results from de novo deletion within chromosome 22. A long series of reports has recognized the variable features resulting from this deletion in multiple family members with the variable phenotype behaving as an autosomal dominant trait (<a href="#108" class="mim-tip-reference" title="Steele, R. W., Limas, C., Thurman, G. B., Schuelein, M., Bauer, H., Bellanti, J. A. &lt;strong&gt;Familial thymic aplasia: attempted reconstitution with fetal thymus in a millipore diffusion chamber.&lt;/strong&gt; New Eng. J. Med. 287: 787-791, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5057550/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5057550&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM197210192871602&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5057550">Steele et al., 1972</a>; <a href="#91" class="mim-tip-reference" title="Raatikka, M., Rapola, J., Tuuteri, L., Louhimo, I., Savilahti, E. &lt;strong&gt;Familial third and fourth pharyngeal pouch syndrome with truncus arteriosus:DiGeorge syndrome.&lt;/strong&gt; Pediatrics 67: 173-175, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7243440/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7243440&lt;/a&gt;]" pmid="7243440">Raatikka et al., 1981</a>; <a href="#3" class="mim-tip-reference" title="Atkin, J. F., Hsia, Y. E., Sommer, A. &lt;strong&gt;Familial DiGeorge syndrome in 7 children. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 34: 80A, 1982."None>Atkin et al., 1982</a>; <a href="#94" class="mim-tip-reference" title="Rohn, R. D., Leffell, M. S., Leadem, P., Johnson, D., Rubio, T., Emanuel, B. S. &lt;strong&gt;Familial third-fourth pharyngeal pouch syndrome with apparent autosomal dominant transmission.&lt;/strong&gt; J. Pediat. 105: 47-51, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6737148/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6737148&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(84)80355-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6737148">Rohn et al., 1984</a>; <a href="#62" class="mim-tip-reference" title="Keppen, L. D., Fasules, J. W., Burks, A. W., Gollin, S. M., Sawyer, J. R., Miller, C. H. &lt;strong&gt;Confirmation of autosomal dominant transmission of the DiGeorge malformation complex.&lt;/strong&gt; J. Pediat. 113: 506-508, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3411398/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3411398&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(88)80640-1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3411398">Keppen et al., 1988</a>; <a href="#109" class="mim-tip-reference" title="Stevens, C. A., Carey, J. C., Shigeoka, A. O. &lt;strong&gt;DiGeorge anomaly and velocardiofacial syndrome.&lt;/strong&gt; Pediatrics 85: 526-530, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2314965/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2314965&lt;/a&gt;]" pmid="2314965">Stevens et al., 1990</a>). <a href="#109" class="mim-tip-reference" title="Stevens, C. A., Carey, J. C., Shigeoka, A. O. &lt;strong&gt;DiGeorge anomaly and velocardiofacial syndrome.&lt;/strong&gt; Pediatrics 85: 526-530, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2314965/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2314965&lt;/a&gt;]" pmid="2314965">Stevens et al. (1990)</a> suggested that such familial cases should be regarded as being velocardiofacial syndrome. The variable phenotype was described by <a href="#110" class="mim-tip-reference" title="Strong, W. B. &lt;strong&gt;Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism.&lt;/strong&gt; J. Pediat. 73: 882-888, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5696314/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5696314&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(68)80241-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5696314">Strong (1968)</a> prior to the recognition of DGS. The mother in that family developed a psychotic illness. The first dominant pedigree in which marked clinical variability was associated with dominant transmission of a 22q11 deletion was reported by <a href="#119" class="mim-tip-reference" title="Wilson, D. I., Cross, I. E., Goodship, J. A., Coulthard, S., Carey, A. H., Scambler, P. J., Bain, H. H., Hunter, A. S., Carter, P. E., Burn, J. &lt;strong&gt;DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin.&lt;/strong&gt; Brit. Heart J. 66: 308-312, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1747284/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1747284&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/hrt.66.4.308&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1747284">Wilson et al. (1991)</a>; the mother had the typical dysmorphic features. Of the 3 affected offspring, one had coarctation of the aorta, one a ventricular septal defect, and one DGS. <a href="#119" class="mim-tip-reference" title="Wilson, D. I., Cross, I. E., Goodship, J. A., Coulthard, S., Carey, A. H., Scambler, P. J., Bain, H. H., Hunter, A. S., Carter, P. E., Burn, J. &lt;strong&gt;DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin.&lt;/strong&gt; Brit. Heart J. 66: 308-312, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1747284/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1747284&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/hrt.66.4.308&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1747284">Wilson et al. (1991)</a> found 5 of 9 families ascertained on the basis of familial outflow tract defects to have 22q11 deletion. Subtle dysmorphic features typical of those seen in DGS were apparent in several of these affected family members. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5057550+2314965+7243440+5696314+3411398+1747284+6737148" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Carelle-Calmels, N., Saugier-Veber, P., Girard-Lemaire, F., Rudolf, G., Doray, B., Guerin, E., Kuhn, P., Arrive, M., Gilch, C., Schmitt, E., Fehrenbach, S., Schnebelen, A., Frebourg, T., Flori, E. &lt;strong&gt;Genetic compensation in a human genomic disorder.&lt;/strong&gt; New Eng. J. Med. 360: 1211-1216, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19297573/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19297573&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMoa0806544&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19297573">Carelle-Calmels et al. (2009)</a> noted that deletion of 22q11.2, resulting in DGS or VCFS, is usually sporadic but has been reported to be inherited in 6 to 28% of patients with these syndromes. They performed cytogenetic studies of the parents of a girl with DGS (or VCFS) who had a deletion of 22q11.2 and found an unexpected rearrangement of both 22q11.2 regions in the unaffected father. He carried a 22q11.2 deletion on one copy of chromosome 22 and a reciprocal 22q11.2 duplication (see <a href="/entry/608363">608363</a>) on the other copy of chromosome 22. Genetic compensation, which is consistent with the normal phenotype of the father, was shown through quantitative-expression analyses of genes located within the genetic region associated with the 22q11 deletion syndrome. <a href="#16" class="mim-tip-reference" title="Carelle-Calmels, N., Saugier-Veber, P., Girard-Lemaire, F., Rudolf, G., Doray, B., Guerin, E., Kuhn, P., Arrive, M., Gilch, C., Schmitt, E., Fehrenbach, S., Schnebelen, A., Frebourg, T., Flori, E. &lt;strong&gt;Genetic compensation in a human genomic disorder.&lt;/strong&gt; New Eng. J. Med. 360: 1211-1216, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19297573/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19297573&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMoa0806544&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19297573">Carelle-Calmels et al. (2009)</a> noted that this finding has implications for genetic counseling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19297573" 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="#25" class="mim-tip-reference" title="Delio, M., Guo, T., McDonald-McGinn, D. M., Zackai, E., Herman, S., Kaminetzky, M., Higgins, A. M., Coleman, K., Chow, C., Jalbrzikowski, M., Bearden, C. E., Bailey, A., and 45 others. &lt;strong&gt;Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.&lt;/strong&gt; Am. J. Hum. Genet. 92: 439-447, 2013. Note: Erratum: Am. J. Hum. Genet. 92: 637 only, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23453669/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23453669&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=23453669[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2013.01.018&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23453669">Delio et al. (2013)</a> genotyped a total of 389 DNA samples from 22q11 deletion syndrome-affected families. A total of 219 (56%) individuals with 22q11 deletion had maternal origin and 170 (44%) had paternal origin of the de novo deletion, which represents a statistically significant bias for maternal origin (p = 0.0151). Combined with many smaller previous studies, 465 (57%) individuals had maternal origin and 345 (43%) had paternal origin, amounting to a ratio of 1.35 or a 35% increase in maternal compared to paternal origin (p = 0.000028). Among 1,892 probands with the de novo 22q11.2 deletion, the average maternal age at time of conception was 29.5, similar to data for the general population in 11 countries. Of interest, the female recombination rate in the 22q11.2 region was about 1.6 to 1.7 times greater than that for males, suggesting that for this region in the genome enhanced meiotic recombination rates, as well as other 22q11.2-specific features, could be responsible for the observed excess in maternal origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23453669" 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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<div>
<a id="cytogenetics" class="mim-anchor"></a>
<h4 href="#mimCytogeneticsFold" id="mimCytogeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimCytogeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Cytogenetics</strong>
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</h4>
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<div id="mimCytogeneticsFold" class="collapse in mimTextToggleFold">
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<p><a href="#23" class="mim-tip-reference" title="de la Chapelle, A., Herva, R., Koivisto, M., Aula, P. &lt;strong&gt;A deletion in chromosome 22 can cause DiGeorge syndrome.&lt;/strong&gt; Hum. Genet. 57: 253-256, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7250965/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7250965&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00278938&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7250965">De la Chapelle et al. (1981)</a> suggested that DiGeorge syndrome may be due to a deletion within chromosome 22 or partial duplication of 20p, based on finding the syndrome in members of a family with a 20;22 translocation. Specifically, they observed DGS in 4 members of 1 family and demonstrated monosomy of 22pter-q11 and 20p duplication. Their interpretation that DGS might result from monosomy for 22q11 was confirmed by <a href="#61" class="mim-tip-reference" title="Kelley, R. I., Zackai, E. H., Emanuel, B. S., Kistenmacher, M., Greenberg, F., Punnett, H. H. &lt;strong&gt;The association of the DiGeorge anomalad with partial monosomy of chromosome 22.&lt;/strong&gt; J. Pediat. 101: 197-200, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7097410/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7097410&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(82)80116-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7097410">Kelley et al. (1982)</a> in 3 patients with translocation of 22q11-qter to other chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7250965+7097410" 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="#48" class="mim-tip-reference" title="Greenberg, F., Crowder, W. E., Paschall, V., Colon-Linares, J., Lubianski, B., Ledbetter, D. H. &lt;strong&gt;Familial DiGeorge syndrome and associated partial monosomy of chromosome 22.&lt;/strong&gt; Hum. Genet. 65: 317-319, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6693120/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6693120&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00291554&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6693120">Greenberg et al. (1984)</a> observed partial monosomy due to an unbalanced 4;22 translocation in a 2-month-old male with type 1 truncus arteriosus and features of DGS. The asymptomatic mother showed partial T-cell deficiency and the same unbalanced translocation with deletion of proximal 22q11. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6693120" 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="#5" class="mim-tip-reference" title="Augusseau, S., Jouk, S., Jalbert, P., Prieur, M. &lt;strong&gt;DiGeorge syndrome and 22q11 rearrangements. (Letter)&lt;/strong&gt; Hum. Genet. 74: 206, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3770751/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3770751&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00282098&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3770751">Augusseau et al. (1986)</a> observed telecanthus, microretrognathia, severe aortic coarctation with hypoplastic left aortic arch, decreased E rosettes, and mild neonatal hypocalcemia. The same translocation was present in the clinically normal mother and maternal aunt. The latter had had her fourth pregnancy aborted because of cardiac and other malformations detected on ultrasound. This translocation has proved important in analysis of the expressed sequences in the deleted segment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3770751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The recognition of the importance of 22q11 deletion grew with improving techniques. <a href="#49" class="mim-tip-reference" title="Greenberg, F., Elder, F. F. B., Haffner, P., Northrup, H., Ledbetter, D. H. &lt;strong&gt;Cytogenetic findings in a prospective series of patients with DiGeorge anomaly.&lt;/strong&gt; Am. J. Hum. Genet. 43: 605-611, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3189331/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3189331&lt;/a&gt;]" pmid="3189331">Greenberg et al. (1988)</a> found chromosome abnormalities in 5 of 27 cases of DGS, 3 with 22q11 deletion though only one of these was an interstitial deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3189331" 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="#118" class="mim-tip-reference" title="Wilson, D. I., Cross, I. E., Goodship, J. A., Brown, J., Scambler, P. J., Bain, H. H., Taylor, J. F. N., Walsh, K., Bankier, A., Burn, J., Wolstenholme, J. &lt;strong&gt;A prospective cytogenetic study of 36 cases of DiGeorge syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 51: 957-963, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1415264/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1415264&lt;/a&gt;]" pmid="1415264">Wilson et al. (1992)</a> reported high resolution banding (more than 850 bands per haploid set) in 30 of 36 cases of DGS and demonstrated 9 cases of interstitial deletion. All other cases were apparently normal. Use of molecular dosage analysis and fluorescence in situ hybridization with probes isolated from within the deleted area revealed deletion in 21 of the 22 cases with normal karyotypes (<a href="#17" class="mim-tip-reference" title="Carey, A. H., Kelly, D., Halford, S., Wadey, R., Wilson, D., Goodship, J., Burn, J., Paul, T., Sharkey, A., Dumanski, J., Nordenskjold, M., Williamson, R., Scambler, P. J. &lt;strong&gt;Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 51: 964-970, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1415265/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1415265&lt;/a&gt;]" pmid="1415265">Carey et al., 1992</a>) giving pooled results of 33 deleted among the consecutive series of 35 cases. <a href="#30" class="mim-tip-reference" title="Driscoll, D. A., Budarf, M. L., Emanuel, B. S. &lt;strong&gt;A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.&lt;/strong&gt; Am. J. Hum. Genet. 50: 924-933, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1349199/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1349199&lt;/a&gt;]" pmid="1349199">Driscoll et al. (1992)</a> also found deletions at the molecular level in all 14 cases studied. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1415265+1415264+1349199" 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>Whereas 90% of cases of DGS may now be attributed to a 22q11 deletion, other chromosome defects have been identified. In the report of <a href="#49" class="mim-tip-reference" title="Greenberg, F., Elder, F. F. B., Haffner, P., Northrup, H., Ledbetter, D. H. &lt;strong&gt;Cytogenetic findings in a prospective series of patients with DiGeorge anomaly.&lt;/strong&gt; Am. J. Hum. Genet. 43: 605-611, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3189331/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3189331&lt;/a&gt;]" pmid="3189331">Greenberg et al. (1988)</a>, there was 1 case of DGS with del10p13 and one with an 18q21.33 deletion. <a href="#40" class="mim-tip-reference" title="Fukushima, Y., Ohashi, H., Wakui, K., Nishida, T., Nakamura, Y., Hoshino, K., Ogawa, K., Oh-ishi, T. &lt;strong&gt;DiGeorge syndrome with del(4)(q21.3q25): possibility of the fourth chromosome region responsible for DiGeorge syndrome. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 51 (suppl.): A80, 1992."None>Fukushima et al. (1992)</a> found a female infant with a deletion of 4q21.3-q25 associated with interrupted aortic arch, VSD, ASD, and PDA; T cell deficit and a small thymus at surgery; absent corpus callosum; and dysmorphic features. The possibility of an unrecognized submicroscopic deletion of 22q11 should be considered in such cases, although it is clear that the disturbance of neural crest migration presumed to underlie DGS may be caused by several distinct defects at the molecular level. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3189331" 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="#88" class="mim-tip-reference" title="Pinto-Escalante, D., Ceballos-Quintal, J. M., Castillo-Zapata, I., Canto-Herrera, J. &lt;strong&gt;Full mosaic monosomy 22 in a child with DiGeorge syndrome facial appearance.&lt;/strong&gt; Am. J. Med. Genet. 76: 150-153, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9511978/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9511978&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19980305)76:2&lt;150::aid-ajmg8&gt;3.0.co;2-x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9511978">Pinto-Escalante et al. (1998)</a> described a premature male infant with mosaic monosomy of chromosome 22. His facial appearance was similar to that in DiGeorge syndrome; hypertonicity, limitation of extension of major joints, and flexion contracture of all fingers were also present. They found previous reports of monosomy 22 in 6 cases, 3 of which were nonmosaic and 3 mosaic. There was great variability in anomalies in these patients; however, the most common anomalies were in the face and joints. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9511978" 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="#47" class="mim-tip-reference" title="Gottlieb, S., Driscoll, D. A., Punnett, H. H., Sellinger, B., Emanuel, B. S., Budarf, M. L. &lt;strong&gt;Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype. (Letter)&lt;/strong&gt; Am. J. Hum. Genet. 62: 495-498, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9463325/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9463325&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301718&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9463325">Gottlieb et al. (1998)</a> determined the location and extent of the deletion on chromosome 10 in 5 DiGeorge syndrome patients by means of a combination of heterozygosity tests and fluorescence in situ hybridization analysis. The results did not support the existence of a single, commonly deleted region on 10p in these 5 patients. Rather, they suggested that deletion of more than 1 region on 10p could be associated with the DGS phenotype. Furthermore, there was no obvious correlation between the phenotypic traits of the patients and the extent of the deletion. The patient with the largest deletion exhibited one of the less severe phenotypes. The authors commented that the lack of a correlation between the size of a deletion and the phenotype is observed also with deletions on chromosome 22 and may be a characteristic of haploinsufficiency disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9463325" 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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<div>
<a id="mapping" class="mim-anchor"></a>
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Mapping</strong>
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</h4>
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<div id="mimMappingFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>A large series of polymorphic markers and some expressed sequences have now been identified in the critical region (<a href="#36" class="mim-tip-reference" title="Fibison, W. J., Emanuel, B. S. &lt;strong&gt;Molecular mapping in DiGeorge syndrome. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 41: A119, 1987."None>Fibison and Emanuel, 1987</a>; <a href="#35" class="mim-tip-reference" title="Fibison, W. J., Budarf, M., McDermid, H., Greenberg, F., Emanuel, B. S. &lt;strong&gt;Molecular studies of DiGeorge syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 46: 888-895, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2339689/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2339689&lt;/a&gt;]" pmid="2339689">Fibison et al., 1990</a>; <a href="#98" class="mim-tip-reference" title="Scambler, P., Dumanski, J. P., Nordenskjold, M., Williamson, R., Carey, A. &lt;strong&gt;Molecular detection of 22q11 deletions in patients with DiGeorge syndrome and normal karyotype. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 47 (suppl.): A235, 1990."None>Scambler et al., 1990</a>). The deletion lies proximal to the breakpoint critical region (<a href="/entry/151410">151410</a>). Details of the mapping of DGS to 22q11 are located in the Molecular Genetics and Cytogenetics sections of this entry. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2339689" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#42" class="mim-tip-reference" title="Galili, N., Baldwin, H. S., Lund, J., Reeves, R., Gong, W., Wang, Z., Roe, B. A., Emanuel, B. S., Nayak, S., Mickanin, C., Budarf, M. L., Buck, C. A. &lt;strong&gt;A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region.&lt;/strong&gt; Genome Res. 7: 17-26, 1997. Note: Erratum: Genome Res. 7: 399 only, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9037598/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9037598&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1101/gr.7.1.17&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9037598">Galili et al. (1997)</a> documented homology of synteny between a 150-kb region on mouse chromosome 16 and the portion of 22q11.2 most commonly deleted in DiGeorge syndrome and VCFS. They identified 7 genes, all of which are transcribed in the early mouse embryo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9037598" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 children with a DiGeorge syndrome phenotype from a consanguineous family, in whom deletion analysis at 22q11.2 and 10p14-p13 did not reveal any abnormality, <a href="#56" class="mim-tip-reference" title="Henwood, J., Pickard, C., Leek, J. P., Bennett, C. P., Crow, Y. J., Thomson, J. D. R., Ahmed, M., Watterson, K. G., Parsons, J. M., Roberts, E., Lench, N. J. &lt;strong&gt;A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?&lt;/strong&gt; J. Med. Genet. 38: 533-536, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11494964/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11494964&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.38.8.533&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11494964">Henwood et al. (2001)</a> carried out microsatellite analysis. The affected children were homozygous at 3 markers within the 22q11.2 region, the markers being those at NLJH1, D22S941, and D22S944. The unaffected sib and the unaffected parents were heterozygous at these markers. A subsequent child who appeared to be unaffected was also found to be homozygous for the markers at these loci. <a href="#56" class="mim-tip-reference" title="Henwood, J., Pickard, C., Leek, J. P., Bennett, C. P., Crow, Y. J., Thomson, J. D. R., Ahmed, M., Watterson, K. G., Parsons, J. M., Roberts, E., Lench, N. J. &lt;strong&gt;A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?&lt;/strong&gt; J. Med. Genet. 38: 533-536, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11494964/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11494964&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.38.8.533&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11494964">Henwood et al. (2001)</a>, however, pointed out that nonpenetrance might be possible. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11494964" 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>Several expressed sequences have been identified in the region commonly deleted. <a href="#4" class="mim-tip-reference" title="Aubry, M., Demczuk, S., Desmaze, C., Aikem, M., Aurias, A., Julien, J., Rouleau, G. A. &lt;strong&gt;Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome.&lt;/strong&gt; Hum. Molec. Genet. 2: 1583-1587, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8268910/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8268910&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/2.10.1583&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8268910">Aubry et al. (1993)</a> have identified a zinc finger gene ZNF74, and <a href="#53" class="mim-tip-reference" title="Halford, S., Wilson, D. I., Daw, S. C. M., Roberts, C., Wadey, R., Kamath, S., Wickremasinghe, A., Burn, J., Goodship, J., Mattei, M.-G., Moorman, A. F. M., Scambler, P. J. &lt;strong&gt;Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome..&lt;/strong&gt; Hum. Molec. Genet. 2: 1577-1582, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8268909/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8268909&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/2.10.1577&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8268909">Halford et al. (1993)</a> reported the expressed sequence T10. The gene TUPLE1 (TUP-like enhancer of split gene-1; <a href="/entry/600237">600237</a>) reported by <a href="#52" class="mim-tip-reference" title="Halford, S., Wadey, R., Roberts, C., Daw, S. C. M., Whiting, J. A., O&#x27;Donnell, H., Dunham, I., Bentley, D., Lindsay, E., Baldini, A., Francis, F., Lehrach, H., Williamson, R., Wilson, D. I., Goodship, J. A., Cross, I., Burn, J., Scambler, P. J. &lt;strong&gt;Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease.&lt;/strong&gt; Hum. Molec. Genet. 2: 2099-2107, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8111380/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8111380&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/2.12.2099&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8111380">Halford et al. (1993)</a> was an attractive candidate for the central features of the syndrome. This putative transcription factor shows homology to the yeast transcription factor TUP, and to Drosophila enhancer of split. It contains 4 WD40 domains and shows evidence of expression at the critical period of development in the outflow tract of the heart and the neural crest derived aspects of the face and upper thorax. The gene localizes to the critical DiGeorge region but was not disrupted by the translocation breakpoint described by <a href="#5" class="mim-tip-reference" title="Augusseau, S., Jouk, S., Jalbert, P., Prieur, M. &lt;strong&gt;DiGeorge syndrome and 22q11 rearrangements. (Letter)&lt;/strong&gt; Hum. Genet. 74: 206, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3770751/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3770751&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00282098&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3770751">Augusseau et al. (1986)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3770751+8111380+8268909+8268910" 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="#5" class="mim-tip-reference" title="Augusseau, S., Jouk, S., Jalbert, P., Prieur, M. &lt;strong&gt;DiGeorge syndrome and 22q11 rearrangements. (Letter)&lt;/strong&gt; Hum. Genet. 74: 206, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3770751/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3770751&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00282098&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3770751">Augusseau et al. (1986)</a> described a patient (ADU) with 'partial' DGS. She had telecanthus, microretrognathia, severe aortic coarctation with hypoplastic left aortic arch, decreased E rosettes, and mild neonatal hypocalcemia. The apparently balanced translocation involved chromosomes 2 and 22: t(2;22)(q14;q11). The same translocation was present in her mother (VDU). The original paper reported that VDU had no features of DGS. However, <a href="#13" class="mim-tip-reference" title="Budarf, M. L., Collins, J., Gong, W., Roe, B., Wang, Z., Bailey, L. C., Sellinger, B., Michaud, D., Driscoll, D. A., Emanuel, B. S. &lt;strong&gt;Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene.&lt;/strong&gt; Nature Genet. 10: 269-278, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7670464/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7670464&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0795-269&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7670464">Budarf et al. (1995)</a> observed that subsequent publications cited VDU as being mildly affected with hypernasal speech, micrognathia, and inverted T4/T8 ratio, which are all features seen in VCFS and DGS. The DGS phenotype in ADU, the VCFS phenotype in VDU, and a balanced translocation of chromosome 22 in both led <a href="#13" class="mim-tip-reference" title="Budarf, M. L., Collins, J., Gong, W., Roe, B., Wang, Z., Bailey, L. C., Sellinger, B., Michaud, D., Driscoll, D. A., Emanuel, B. S. &lt;strong&gt;Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene.&lt;/strong&gt; Nature Genet. 10: 269-278, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7670464/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7670464&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0795-269&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7670464">Budarf et al. (1995)</a> to clone the translocation, sequence the region containing the breakpoint, and analyze the DNA sequence for transcript identification. A gene disrupted by the rearrangement was identified. Their analysis suggested that there are at least 2 transcripts on opposite strands in the region of the t(2;22) breakpoint. The breakpoint disrupted a predicted ORF of one of these genes, deleting 11 nucleotides at the translocation junction. Additional fluorescence in situ hybridization studies and Southern blot analysis demonstrated that the deletions in chromosome 22 deletion-positive patients with DGS/VCFS include both of the transcripts at the t(2;22) breakpoint. Support that either of these putative genes is of significance in the etiology of DGS might come from determining whether all deleted patients are hemizygous for these loci and whether mutations in these genes are detectable in nondeletion patients with features of DGS. Lacking such evidence, the possibility remains that the translocation separates a locus control region from its target gene or produces a position effect. This has been suggested for the role of translocations seen in association with autosomal sex reversal and campomelic dysplasia (CMPD; <a href="/entry/114290">114290</a>), where several disease-causing translocation breakpoints map 50 kb or more 5-prime of the SOX9 gene (<a href="/entry/608160">608160</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7670464+3770751" 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="#7" class="mim-tip-reference" title="Bartsch, O., Nemeckova, M., Kocarek, E., Wagner, A., Puchmajerova, A., Poppe, M., Ounap, K., Goetz, P. &lt;strong&gt;DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion.&lt;/strong&gt; Am. J. Med. Genet. 117A: 1-5, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12548732/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12548732&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.10914&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12548732">Bartsch et al. (2003)</a> used cytogenetic and analyses to study a series of 295 patients with suspected DiGeorge/velocardiofacial syndrome. They identified 58 subjects with a 22q11 deletion, and none with a 10p deletion. The common deletion was present in 52 subjects, the proximal deletion in 5, and an atypical proximal deletion due to a 1;22 translocation in 1. <a href="#7" class="mim-tip-reference" title="Bartsch, O., Nemeckova, M., Kocarek, E., Wagner, A., Puchmajerova, A., Poppe, M., Ounap, K., Goetz, P. &lt;strong&gt;DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion.&lt;/strong&gt; Am. J. Med. Genet. 117A: 1-5, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12548732/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12548732&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.10914&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12548732">Bartsch et al. (2003)</a> suggested that intellectual and/or behavioral outcome may be better with the proximal versus the common 22q11 deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12548732" 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="#27" class="mim-tip-reference" title="Demczuk, S., Levy, A., Aubry, M., Croquette, M.-F., Philip, N., Prieur, M., Sauer, U., Bouvagnet, P., Rouleau, G. A., Thomas, G., Aurias, A. &lt;strong&gt;Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes: a study of 22 new patients and review of the literature.&lt;/strong&gt; Hum. Genet. 96: 9-13, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7607662/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7607662&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00214179&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7607662">Demczuk et al. (1995)</a> pointed to the existence of a strong tendency for 22q11.2 deletions in DGS, VCFS, and isolated conotruncal cardiac disease to be of maternal origin. With their experience of 22 cases in which parental origin could be determined, combined with recent results from the literature, 24 cases were found to be of maternal origin and 8 of paternal origin, yielding a probability of less than 0.01. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7607662" 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="#26" class="mim-tip-reference" title="Demczuk, S., Aledo, R., Zucman, J., Delattre, O., Desmaze, C., Dauphinot, L., Jalbert, P., Rouleau, G. A., Thomas, G., Aurias, A. &lt;strong&gt;Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity.&lt;/strong&gt; Hum. Molec. Genet. 4: 551-558, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7633403/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7633403&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/4.4.551&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7633403">Demczuk et al. (1995)</a> reported the isolation and cloning of a gene encoding a potential adhesion receptor protein (<a href="/entry/600594">600594</a>) in the DGCR. They designated the gene DGCR2 and suggested DGCR1 as a symbol for the TUPLE1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7633403" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#89" class="mim-tip-reference" title="Pizzuti, A., Novelli, G., Mari, A., Ratti, A., Colosimo, A., Amati, F., Penso, D., Sangiuolo, F., Calabrese, G., Palka, G., Silani, V., Gennarelli, M., Mingarelli, R., Scarlato, G., Scambler, P., Dallapiccola, B. &lt;strong&gt;Human homologue sequences to the Drosophila dishevelled (sic) segment-polarity gene are deleted in the DiGeorge syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 58: 722-729, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8644734/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8644734&lt;/a&gt;]" pmid="8644734">Pizzuti et al. (1996)</a> described the cloning and tissue expression of a human homolog of the Drosophila 'dishevelled' gene (<a href="/entry/601225">601225</a>), a gene required for the establishment of fly embryonic segments. The 3-prime untranslated region of the gene was positioned within the DGS critical region and was found to be deleted in DGS patients. The authors stated that the gene may be involved in the pathogenesis of DGS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8644734" 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="#28" class="mim-tip-reference" title="Demczuk, S., Thomas, G., Aurias, A. &lt;strong&gt;Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes.&lt;/strong&gt; Hum. Molec. Genet. 5: 633-638, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8733130/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8733130&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/5.5.633&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8733130">Demczuk et al. (1996)</a> described the cloning of a gene, which they referred to as DGCR6 (<a href="/entry/601279">601279</a>), from the DGS critical region. The putative protein encoded by this gene shows homology with Drosophila melanogaster gonadal protein (gdl) and with the gamma-1 chain of human laminin (150290), which maps to chromosome 1q31. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="Edelmann, L., Pandita, R. K., Spiteri, E., Funke, B., Goldberg, R., Palanisamy, N., Chaganti, R. S. K., Magenis, E., Shprintzen, R. J., Morrow, B. E. &lt;strong&gt;A common molecular basis for rearrangement disorders on chromosome 22q11.&lt;/strong&gt; Hum. Molec. Genet. 8: 1157-1167, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10369860/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10369860&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/8.7.1157&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10369860">Edelmann et al. (1999)</a> developed hamster-human somatic hybrid cell lines from VCFS/DGS patients and showed by use of haplotype analysis with a set of 16 ordered genetic markers on 22q11 that the breakpoints occurred within similar low copy repeats, designated LCR22s. Models were presented to explain how the LCR22s can mediate different homologous recombination events, thereby generating a number of rearrangements that are associated with congenital anomaly disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10369860" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#101" class="mim-tip-reference" title="Shaikh, T. H., Kurahashi, H., Saitta, S. C., O&#x27;Hare, A. M., Hu, P., Roe, B. A., Driscoll, D. A., McDonald-McGinn, D. M., Zackai, E. H., Budarf, M. L., Emanuel, B. S. &lt;strong&gt;Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.&lt;/strong&gt; Hum. Molec. Genet. 9: 489-501, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10699172/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10699172&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/9.4.489&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10699172">Shaikh et al. (2000)</a> completed sequencing of the 3-Mb typically deleted region (TDR) and identified 4 LCRs within it. Although the LCRs differed in content and organization of shared modules, those modules that were common between them shared 97 to 98% sequence identity with one another. Sequence analysis of rearranged junction fragments from variant deletions in 3 DGS/VCFS patients implicated the LCRs directly in the formation of 22q11.2 deletions. FISH analysis of nonhuman primates suggested that the duplication events which generated the nest of LCRs may have occurred at least 20 to 25 million years ago. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10699172" 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="#106" class="mim-tip-reference" title="Stalmans, I., Lambrechts, D., De Smet, F., Jansen, S., Wang, J., Maity, S., Kneer, P., von der Ohe, M., Swillen, A., Maes, C., Gewillig, M., Molin, D. G. M., and 20 others. &lt;strong&gt;VEGF: a modifier of the del22q11 (DiGeorge) syndrome?&lt;/strong&gt; Nature Med. 9: 173-182, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12539040/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12539040&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nm819&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12539040">Stalmans et al. (2003)</a> reported that absence of the 164-amino acid isoform of Vegf (Vegf164; see <a href="/entry/192240">192240</a>), the only one that binds neuropilin-1 (<a href="/entry/602069">602069</a>), causes birth defects in mice reminiscent of those found in patients with deletion of 22q11. The close correlation of birth and vascular defects indicated that vascular dysgenesis may pathogenetically contribute to the birth defects. Vegf interacted with Tbx1, as Tbx1 expression was reduced in Vegf164-deficient embryos and knocked-down Vegf levels enhanced the pharyngeal arch artery defects induced by Tbx1 knockdown in zebrafish. Moreover, initial evidence suggested that a Vegf promoter haplotype was associated with an increased risk for cardiovascular birth defects in del22q11 individuals. <a href="#106" class="mim-tip-reference" title="Stalmans, I., Lambrechts, D., De Smet, F., Jansen, S., Wang, J., Maity, S., Kneer, P., von der Ohe, M., Swillen, A., Maes, C., Gewillig, M., Molin, D. G. M., and 20 others. &lt;strong&gt;VEGF: a modifier of the del22q11 (DiGeorge) syndrome?&lt;/strong&gt; Nature Med. 9: 173-182, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12539040/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12539040&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nm819&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12539040">Stalmans et al. (2003)</a> concluded that genetic data in mouse, fish, and human indicated that VEGF is a modifier of cardiovascular birth defects in the del22q11 syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12539040" 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="Baldini, A. &lt;strong&gt;DiGeorge syndrome: the use of model organisms to dissect complex genetics.&lt;/strong&gt; Hum. Molec. Genet. 11: 2363-2369, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12351571/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12351571&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/11.20.2363&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12351571">Baldini (2002)</a> reviewed the molecular basis of DiGeorge syndrome, with special emphasis on mouse models and the role of TBX1 in development of the pharyngeal arches. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12351571" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#121" class="mim-tip-reference" title="Yagi, H., Furutani, Y., Hamada, H., Sasaki, T., Asakawa, S., Minoshima, S., Ichida, F., Joo, K., Kimura, M., Imamura, S., Kamatani, N., Momma, K., Takao, A., Nakazawa, M., Shimizu, N., Matsuoka, R. &lt;strong&gt;Role of TBX1 in human del22q11.2 syndrome.&lt;/strong&gt; Lancet 362: 1366-1373, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14585638/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14585638&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(03)14632-6&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14585638">Yagi et al. (2003)</a> screened for mutations in the coding sequence of TBX1 in 13 patients from 10 families who had the 22q11.2 syndrome phenotype but no detectable deletion in 22q11.2. They identified 3 mutations in TBX1 in 2 unrelated patients: 1 mutation was found in a case of sporadic conotruncal anomaly face syndrome/velocardiofacial syndrome and a second in a sporadic case of DiGeorge syndrome (<a href="/entry/602054#0002">602054.0002</a>). A third mutation was found in 3 patients from a family with conotruncal anomaly face syndrome/velocardiofacial syndrome. The findings of <a href="#121" class="mim-tip-reference" title="Yagi, H., Furutani, Y., Hamada, H., Sasaki, T., Asakawa, S., Minoshima, S., Ichida, F., Joo, K., Kimura, M., Imamura, S., Kamatani, N., Momma, K., Takao, A., Nakazawa, M., Shimizu, N., Matsuoka, R. &lt;strong&gt;Role of TBX1 in human del22q11.2 syndrome.&lt;/strong&gt; Lancet 362: 1366-1373, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14585638/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14585638&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(03)14632-6&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14585638">Yagi et al. (2003)</a> indicated that TBX1 mutations are responsible for 5 major phenotypes of the 22q11.2 syndrome, namely, abnormal facies (conotruncal anomaly face), cardiac defects, thymic hypoplasia, velopharyngeal insufficiency of the cleft palate, and parathyroid dysfunction with hypocalcemia; these mutations did not appear to be responsible for typical mental retardation that is commonly seen in patients with the deletion form of 22q11.2 syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14585638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#96" class="mim-tip-reference" title="Saitta, S. C., Harris, S. E., Gaeth, A. P., Driscoll, D. A., McDonald-McGinn, D. M., Maisenbacher, M. K., Yersak, J. M., Chakraborty, P. K., Hacker, A. M., Zackai, E. H., Ashley, T., Emanuel, B. S. &lt;strong&gt;Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.&lt;/strong&gt; Hum. Molec. Genet. 13: 417-428, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14681306/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14681306&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=14681306[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddh041&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14681306">Saitta et al. (2004)</a> traced the grandparental origin of regions flanking de novo 3-Mb deletions in 20 informative 3-generation families with DiGeorge or velocardiofacial syndromes. Haplotype reconstruction of the flanking regions showed an unexpectedly high number of proximal interchromosomal exchanges between homologs, occurring in 19 of 20 families, whereas the normal chromosome 22 in these probands showed interchromosomal exchanges in 2 of 15 informative meioses, a rate consistent with the genetic distance. Immunostaining with MLH1 antibody showed meiotic exchanges localized to the distal region of chromosome 22q in 75% of human spermatocytes tested, also reflecting the genetic map. There was no effect of proband gender or parental age on crossover frequency, and parental origin studies in 65 de novo 3-Mb deletions demonstrated no bias. Unlike Williams syndrome (<a href="/entry/194050">194050</a>), FISH analysis showed no chromosomal inversions flanked by LCRs in 22 sets of parents of 22q11-deleted patients or in 8 nondeleted patients with a DGS/VCFS phenotype. <a href="#96" class="mim-tip-reference" title="Saitta, S. C., Harris, S. E., Gaeth, A. P., Driscoll, D. A., McDonald-McGinn, D. M., Maisenbacher, M. K., Yersak, J. M., Chakraborty, P. K., Hacker, A. M., Zackai, E. H., Ashley, T., Emanuel, B. S. &lt;strong&gt;Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.&lt;/strong&gt; Hum. Molec. Genet. 13: 417-428, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14681306/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14681306&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=14681306[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddh041&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14681306">Saitta et al. (2004)</a> concluded that significant aberrant interchromosomal exchange events during meiosis I in the proximal region of the affected chromosome 22 are the likely etiology for these deletions. Since this type of exchange occurs more often for 22q11 deletions than for deletions of 7q11, 15q11, 17p11, and 17q11, they suggested that there is a difference in the meiotic behavior of chromosome 22. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14681306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#34" class="mim-tip-reference" title="Fernandez, L., Lapunzina, P., Lopez Pajares, I., Rodriguez Criado, G., Garcia-Guereta, L., Perez, J., Quero, J., Delicado, A. &lt;strong&gt;Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22q11.2 deletion syndrome.&lt;/strong&gt; Am. J. Med. Genet. 136A: 71-75, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15889418/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15889418&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30756&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15889418">Fernandez et al. (2005)</a> found that 7 (13%) of 55 index patients with 22q11.2 deletion syndrome diagnosed by FISH analysis had inherited the deletion; 2 of the index patients were related as half sibs and had received the deletion from their shared mother. Using molecular techniques to characterize the size of the deletion, The authors found that 3 of 5 families had the smaller 1.5- to 2-Mb deletion and 2 families had the larger 3-Mb deletion; the size of the deletion in 1 family could not be determined. The findings suggested that small deletions may be more common in familial inheritance than larger deletions. Although the clinical severity did not differ between the 2 groups of patients, <a href="#34" class="mim-tip-reference" title="Fernandez, L., Lapunzina, P., Lopez Pajares, I., Rodriguez Criado, G., Garcia-Guereta, L., Perez, J., Quero, J., Delicado, A. &lt;strong&gt;Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22q11.2 deletion syndrome.&lt;/strong&gt; Am. J. Med. Genet. 136A: 71-75, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15889418/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15889418&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30756&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15889418">Fernandez et al. (2005)</a> postulated that the smaller deletion may be associated with higher fecundity than the larger deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15889418" 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="#86" class="mim-tip-reference" title="Paylor, R., Glaser, B., Mupo, A., Ataliotis, P., Spencer, C., Sobotka, A., Sparks, C., Choi, C.-H., Oghalai, J., Curran, S., Murphy, K. C., Monks, S., Williams, N., O&#x27;Donovan, M. C., Owen, M. J., Scambler, P. J., Lindsay, E. &lt;strong&gt;Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome.&lt;/strong&gt; Proc. Nat. Acad. Sci. 103: 7729-7734, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16684884/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16684884&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16684884[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.0600206103&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16684884">Paylor et al. (2006)</a> identified a heterozygous 23-bp deletion in the TBX1 gene (<a href="/entry/602054#0004">602054.0004</a>) in a mother and 2 sons with VCFS. The mother also had major depression (<a href="/entry/608516">608516</a>) and 1 of the sons was diagnosed with Asperger syndrome (see, e.g., <a href="/entry/608638">608638</a> and <a href="/entry/209850">209850</a>). <a href="#86" class="mim-tip-reference" title="Paylor, R., Glaser, B., Mupo, A., Ataliotis, P., Spencer, C., Sobotka, A., Sparks, C., Choi, C.-H., Oghalai, J., Curran, S., Murphy, K. C., Monks, S., Williams, N., O&#x27;Donovan, M. C., Owen, M. J., Scambler, P. J., Lindsay, E. &lt;strong&gt;Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome.&lt;/strong&gt; Proc. Nat. Acad. Sci. 103: 7729-7734, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16684884/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16684884&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16684884[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.0600206103&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16684884">Paylor et al. (2006)</a> suggested that the TBX1 gene is a candidate for psychiatric disease in patients with VCFS and DiGeorge syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16684884" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#59" class="mim-tip-reference" title="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. &lt;strong&gt;An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.&lt;/strong&gt; Genet. Med. 13: 777-784, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21844811/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21844811&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/GIM.0b013e31822c79f9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" 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 22q11.2 deletion was identified in 93 cases and no controls for a p value of 9.15 x 10(-21) and a frequency in cases of 1 of 169. <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>
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<div>
<a id="genotypePhenotypeCorrelations" class="mim-anchor"></a>
<h4 href="#mimGenotypePhenotypeCorrelationsFold" id="mimGenotypePhenotypeCorrelationsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimGenotypePhenotypeCorrelationsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Genotype/Phenotype Correlations</strong>
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</h4>
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<div id="mimGenotypePhenotypeCorrelationsFold" class="collapse in mimTextToggleFold">
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<p>Patients with DiGeorge syndrome are hemizygous for the COMT gene (<a href="/entry/116790">116790</a>). In a study of 21 nonpsychotic DiGeorge syndrome patients aged 7 to 16 years, <a href="#102" class="mim-tip-reference" title="Shashi, V., Keshavan, M. S., Howard, T. D., Berry, M. N., Basehore, M. J., Lewandowski, E., Kwapil, T. R. &lt;strong&gt;Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome.&lt;/strong&gt; Clin. Genet. 69: 234-238, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16542388/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16542388&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2006.00569.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16542388">Shashi et al. (2006)</a> found that those carrying the met allele of the COMT V158M polymorphism (<a href="/entry/116790#0001">116790.0001</a>), which results in increased dopamine in the prefrontal cortex, performed better on tests of general cognitive ability and on a specific test of prefrontal cognition compared to those with the val allele. <a href="#44" class="mim-tip-reference" title="Glaser, B., Debbane, M., Hinard, C., Morris, M. A., Dahoun, S. P., Antonarakis, S. E., Eliez, S. &lt;strong&gt;No evidence for an effect of COMT val158-to-met genotype on executive function in patients with 22q11 deletion syndrome.&lt;/strong&gt; Am. J. Psychiat. 163: 537-539, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16513880/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16513880&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1176/appi.ajp.163.3.537&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16513880">Glaser et al. (2006)</a> tested measures of executive function, IQ, and memory in 34 children and young adults with the 22q11.2 deletion syndrome (14 hemizygous for val158 and 30 for met158). No significant differences were detected between met- and val-hemizygous participants on measures of executive function. The groups did not differ on full-scale, performance, and verbal IQ or on verbal and visual memory. <a href="#44" class="mim-tip-reference" title="Glaser, B., Debbane, M., Hinard, C., Morris, M. A., Dahoun, S. P., Antonarakis, S. E., Eliez, S. &lt;strong&gt;No evidence for an effect of COMT val158-to-met genotype on executive function in patients with 22q11 deletion syndrome.&lt;/strong&gt; Am. J. Psychiat. 163: 537-539, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16513880/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16513880&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1176/appi.ajp.163.3.537&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16513880">Glaser et al. (2006)</a> suggested that either the COMT polymorphism has a small effect on executive function in 22q11.2 deletion syndrome or no effect exists at all. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16513880+16542388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#75" class="mim-tip-reference" title="Lopez-Rivera, E., Liu, Y. P., Verbitsky, M., Anderson, B. R., Capone, V. P., Otto, E. A., Yan, Z., Mitrotti, A., Martino, J., Steers, N. J., Fasel, D. A., Vukojevic, K., and 70 others. &lt;strong&gt;Genetic drivers of kidney defects in the DiGeorge syndrome.&lt;/strong&gt; New Eng. J. Med. 376: 742-754, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28121514/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;28121514&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=28121514[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMoa1609009&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="28121514">Lopez-Rivera et al. (2017)</a> conducted a genomewide search for structural variants in 2 cohorts: 2,080 patients with congenital kidney and urinary tract anomalies and 22,094 controls. Exome and targeted resequencing was performed in samples obtained from 586 additional patients with congenital kidney anomalies. Functional studies were also performed in zebrafish and mice. <a href="#75" class="mim-tip-reference" title="Lopez-Rivera, E., Liu, Y. P., Verbitsky, M., Anderson, B. R., Capone, V. P., Otto, E. A., Yan, Z., Mitrotti, A., Martino, J., Steers, N. J., Fasel, D. A., Vukojevic, K., and 70 others. &lt;strong&gt;Genetic drivers of kidney defects in the DiGeorge syndrome.&lt;/strong&gt; New Eng. J. Med. 376: 742-754, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28121514/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;28121514&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=28121514[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMoa1609009&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="28121514">Lopez-Rivera et al. (2017)</a> identified heterozygous deletion of chromosome 22q11.2 in 1% of patients with congenital kidney anomalies and in 0.01% of population controls (OR = 81.5, p = 4.5 x 10(-14)). The main driver of renal disease in DiGeorge syndrome was a 370-kb region containing 9 genes. In zebrafish embryos, an induced loss of function in snap29 (<a href="/entry/604202">604202</a>), aifm3 (<a href="/entry/617298">617298</a>), and crkl (<a href="/entry/602007">602007</a>) resulted in renal defects; the loss of crkl alone was sufficient to induce defects. Five of 586 patients with congenital urinary anomalies had newly identified heterozygous protein-altering variants, including a premature termination codon, in CRKL. The inactivation of Crkl in the mouse model induced developmental defects similar to those observed in patients with congenital urinary anomalies. <a href="#75" class="mim-tip-reference" title="Lopez-Rivera, E., Liu, Y. P., Verbitsky, M., Anderson, B. R., Capone, V. P., Otto, E. A., Yan, Z., Mitrotti, A., Martino, J., Steers, N. J., Fasel, D. A., Vukojevic, K., and 70 others. &lt;strong&gt;Genetic drivers of kidney defects in the DiGeorge syndrome.&lt;/strong&gt; New Eng. J. Med. 376: 742-754, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28121514/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;28121514&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=28121514[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMoa1609009&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="28121514">Lopez-Rivera et al. (2017)</a> concluded that a recurrent 370-kb deletion in the 22q11.2 locus is the driver of kidney defects in DiGeorge syndrome and in sporadic congenital kidney and urinary tract anomalies. Of the 9 genes at this locus, SNAP29, AIFM3, and CRKL appear to be critical to the phenotype, with haploinsufficiency of CRKL emerging as the main genetic driver. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28121514" 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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<div>
<a id="heterogeneity" class="mim-anchor"></a>
<h4 href="#mimHeterogeneityFold" id="mimHeterogeneityToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Heterogeneity</strong>
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</h4>
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<div id="mimHeterogeneityFold" class="collapse in mimTextToggleFold">
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<p>The association of the DiGeorge syndrome with at least 2 and possibly more chromosomal locations suggests strongly that several genes are involved in control of migration of neural crest cells and their subsequent fixation and differentiation at different sites. In the mouse, <a href="#19" class="mim-tip-reference" title="Chisaka, O., Capecchi, M. R. &lt;strong&gt;Regionally restricted developmental defects resulting from targeted disruption of the mouse homeobox gene hox-1.5.&lt;/strong&gt; Nature 350: 473-479, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1673020/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1673020&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/350473a0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1673020">Chisaka and Capecchi (1991)</a> described a knockout of Hox A3(1.5) which produced a recessive phenocopy of DGS. This gene maps to human chromosome 7, an area not yet implicated in the cause of the human syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1673020" 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>One explanation for the wide variation in phenotype would be the need for more than 1 gene defect to produce the severe version. Thus, for example, impaired signal and receptor may be needed to produce the full phenotype. Environmental factors could also play an additive role. Features of DGS have been described in children with clinical evidence of fetal alcohol syndrome. <a href="#1" class="mim-tip-reference" title="Ammann, A. J., Wara, D. W., Cowan, M. J., Barrett, D. J., Stiehm, E. R. &lt;strong&gt;The DiGeorge syndrome and the fetal alcohol syndrome.&lt;/strong&gt; Am. J. Dis. Child. 136: 906-908, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6812410/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6812410&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archpedi.1982.03970460036008&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6812410">Ammann et al. (1982)</a> found 4 children among a referral population with immunodeficiency who had hypocalcemia with decreased levels of parathormone, and T cell rosette formation of between 9 and 50% (normal over 65%). All 4 had cardiovascular lesions compatible with DGS; VSD with right aortic arch, truncus arteriosus and pulmonary stenosis, aberrant subclavian artery and pulmonary valve stenosis respectively. Two of the children had absent thymus at direct examination. The alcohol may have directly disrupted neural crest migration or have exposed a genetic predisposition. Among a series of pregnancies exposed to the teratogen isotretinoin (vitamin A) reported by <a href="#68" class="mim-tip-reference" title="Lammer, E. J., Chen, D. T., Hoar, R. M., Agnish, N. D., Benke, P. J., Braun, J. T., Curry, C. J., Fernhoff, P. M., Grix, A. W., Jr., Lott, I. T., Richard, J. M., Sun, S. C. &lt;strong&gt;Retinoic acid embryopathy.&lt;/strong&gt; New Eng. J. Med. 313: 837-841, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3162101/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3162101&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198510033131401&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3162101">Lammer et al. (1985)</a> 21 malformed infants were investigated; 8 had conotruncal defects or aortic arch anomalies, 6 had micrognathia, 3 had cleft palate and 7 had thymic defects. Several of these children would satisfy the diagnostic criteria of DGS. Again, it is likely that this environmental challenge is exposing the same susceptible pathways of development as are impaired by the 22q11 deletion though the possibility of an interaction between the insult and genotype remains open. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3162101+6812410" 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="diagnosis" class="mim-anchor"></a>
<h4 href="#mimDiagnosisFold" id="mimDiagnosisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Diagnosis</strong>
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</h4>
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<p>The dysmorphic facial appearance in an individual with a major outflow tract defect of the heart or a history of recurrent infection should raise suspicion. In infancy, hypocalcemia is a characteristic feature although this may be intermittent and has a tendency to resolve during the first year. Immunological assessment relies on chest radiography to detect a thymic shadow, a notoriously unreliable investigation, particularly in the stressed infant, and measurement of the CD4-positive subset of white cells. With the rapid progress in molecular cytogenetics, the investigation of choice is now a standard karyotype to exclude major rearrangements and fluorescence in situ hybridization using probes from within the deletion segment, preferably those close to the translocation breakpoint site. Where cell suspension or fresh blood cannot be obtained for karyotype, allele loss may be sought with a series of the hypervariable probes in the region. Parents should be screened for carrier status.</p>
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<strong>Clinical Management</strong>
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<p>Calcium supplements and 1,25-cholecalciferol may be needed to treat hypocalcemia. Thymic transplantation has been employed though this is difficult to assess since children tend to improve with age. Any affected child undergoing major surgery should have a supply of irradiated blood to avoid graft-versus-host disease (GVHD; see <a href="/entry/614395">614395</a>) until immunocompetence has been demonstrated. Clefts may be submucous and should be sought. Speech therapy and additional educational assistance may be needed. Cardiac defects are the usual focus of clinical management. Early echocardiography is essential in any child where other features suggest the diagnosis.</p><p><a href="#78" class="mim-tip-reference" title="Markert, M. L., Boeck, A., Hale, L. P., Kloster, A. L., McLaughlin, T. M., Batchvarova, M. N., Douek, D. C., Koup, R. A., Kostyu, D. D., Ward, F. E., Rice, H. E., Mahaffey, S. M. &lt;strong&gt;Transplantation of thymus tissue in complete DiGeorge syndrome.&lt;/strong&gt; New Eng. J. Med. 341: 1180-1189, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10523153/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10523153&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM199910143411603&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10523153">Markert et al. (1999)</a> treated 5 infants with the complete DiGeorge syndrome by transplantation of allogeneic, postnatal thymus tissue. All of them had severely reduced T-cell function. Their peripheral blood mononuclear cells did not respond to mitogens. After transplantation of thymus tissue, T-cell proliferative responses to mitogens developed in 4 patients. No graft-vs-host disease or graft rejection was detected, even in a case with full haplotype mismatch. Two of the patients survived with restoration of immune function, 11 months and 5.5 years after transplantation, respectively; 3 patients died from infection or abnormalities unrelated to transplantation. The authors concluded that early thymus transplantation (before the development of infectious complications) may promote successful immune reconstitution in the complete DiGeorge syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10523153" 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>See <a href="#84" class="mim-tip-reference" title="Oskarsdottir, S., Boot, E., Crowley, T. B., Loo, J. C. Y., Arganbright, J. M., Armando, M., Baylis, A. L., Breetvelt, E. J., Castelein, R. M., Chadehumbe, M., Cielo, C. M., de Reuver, S., and 28 others. &lt;strong&gt;Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.&lt;/strong&gt; Genet. Med. 25: 100338, 2023.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/36729053/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;36729053&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.gim.2022.11.006&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="36729053">Oskarsdottir et al. (2023)</a> and <a href="#10" class="mim-tip-reference" title="Boot, E., Oskarsdottir, S., Loo, J. C. Y., Crowley, T. B., Orchanian-Cheff, A., Andrade, D. M., Arganbright, J. M., Castelein, R. M., Cserti-Gazdewich, C., de Reuver, S., Fiksinski, A. M., Klingberg, G., and 17 others. &lt;strong&gt;Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.&lt;/strong&gt; Genet. Med. 25: 100344, 2023.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/36729052/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;36729052&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.gim.2022.11.012&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="36729052">Boot et al. (2023)</a> for clinical practice recommendations for managing children and adults with 22q11.2 deletion syndrome, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=36729053+36729052" 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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<strong>Pathogenesis</strong>
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<p>By analyzing head profile radiographs, <a href="#81" class="mim-tip-reference" title="Molsted, K., Boers, M., Kjar, I. &lt;strong&gt;The morphology of the sella turcica in velocardiofacial syndrome suggests involvement of a neural crest developmental field.&lt;/strong&gt; Am. J. Med. Genet. 152A: 1450-1457, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20503320/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20503320&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33381&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20503320">Molsted et al. (2010)</a> found an increased frequency of abnormalities in the morphology of the sella turcica in 33 patients with chromosome 22q11.2 deletion syndrome, including 30 with either velopharyngeal insufficiency or palatal abnormalities, compared controls. Patients showed deviations mostly in the posterior part of the dorsum sellae, and patients had increased cranial base angles compared to controls. <a href="#81" class="mim-tip-reference" title="Molsted, K., Boers, M., Kjar, I. &lt;strong&gt;The morphology of the sella turcica in velocardiofacial syndrome suggests involvement of a neural crest developmental field.&lt;/strong&gt; Am. J. Med. Genet. 152A: 1450-1457, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20503320/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20503320&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33381&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20503320">Molsted et al. (2010)</a> noted that abnormal morphology of the cranial base and the sella turcica should be considered a cranial malformation. Taking into account that the main features of the disorder are palatal abnormalities, thymic hypoplasia, hypothyroidism, and cardiac defects, the findings of <a href="#81" class="mim-tip-reference" title="Molsted, K., Boers, M., Kjar, I. &lt;strong&gt;The morphology of the sella turcica in velocardiofacial syndrome suggests involvement of a neural crest developmental field.&lt;/strong&gt; Am. J. Med. Genet. 152A: 1450-1457, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20503320/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20503320&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33381&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20503320">Molsted et al. (2010)</a> suggested a defect in the neural crest developmental field that includes the thyroid, thymus, and conotruncal septum of the heart. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20503320" 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="populationGenetics" class="mim-anchor"></a>
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<p>A preliminary population study in the Northern region of England, which has a birth population of 40,000 per annum, revealed 9 cases born in 1993 with 22q11 deletions who presented with neonatal features. One of these was familial with an asymptomatic carrier father. The overall birth prevalence appeared to be at least 1 in 4,000 (Burn et al., 1995). <a href="#45" class="mim-tip-reference" title="Goodship, J., Cross, I., LiLing, J., Wren, C. &lt;strong&gt;A population study of chromosome 22q11 deletions in infancy.&lt;/strong&gt; Arch. Dis. Child. 79: 348-351, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9875047/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9875047&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/adc.79.4.348&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9875047">Goodship et al. (1998)</a> presented prospective prevalence data derived from the same health region. Since approximately 75% of patients with 22q11 deletion have a cardiac abnormality, all infants with significant congenital heart disease born in 1994 and 1995 who were referred to the Northern (United Kingdom) Genetics Service were screened for 22q11 deletion. Significant congenital heart disease was defined as major structural malformation or disease requiring early invasive investigation or intervention. Additional cases born during this period without apparent heart malformation in whom a diagnosis of 22q11 deletion was made by a clinical geneticist were included. Among 69,129 live births there were 207 babies with significant congenital heart disease; fluorescence in situ hybridization analyses were performed in 170 of these. Five of these had 22q11 deletions. One baby with type B interruption of the aortic arch, ventricular septal defect, and 22q11 deletion was diagnosed at autopsy following sudden death at 11 days. Three further infants were diagnosed on the basis of a laryngeal web and hypocalcemia, dysmorphism, and dysmorphism with nasal voice, respectively. The minimum birth prevalence from these data was 13 per 100,000 live births, making 22q11 deletion the second most common cause of congenital heart disease after Down syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9875047" 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="#12" class="mim-tip-reference" title="Botto, L. D., May, K., Fernhoff, P. M., Correa, A., Coleman, K., Rasmussen, S. A., Merritt, R. K., O&#x27;Leary, L. A., Wong, L.-Y., Elixson, E. M., Mahle, W. T., Campbell, R. M. &lt;strong&gt;A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population.&lt;/strong&gt; Pediatrics 112: 101-107, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12837874/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12837874&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1542/peds.112.1.101&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12837874">Botto et al. (2003)</a> identified 43 children with laboratory-confirmed 22q11.2 deletion among infants born in Atlanta, Georgia from 1994 to 1999. The overall prevalence was 1 in 5,950 births, with a prevalence of 1 in 6,000 to 1 in 6,5000 among whites, blacks, and Asians, and 1 in 3,800 among Hispanics. Most affected children (81%) had a heart defect, most commonly a conotruncal defect. Other common features included absent thymus (28%), central nervous system anomalies (12%), and renal anomalies (12%). <a href="#12" class="mim-tip-reference" title="Botto, L. D., May, K., Fernhoff, P. M., Correa, A., Coleman, K., Rasmussen, S. A., Merritt, R. K., O&#x27;Leary, L. A., Wong, L.-Y., Elixson, E. M., Mahle, W. T., Campbell, R. M. &lt;strong&gt;A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population.&lt;/strong&gt; Pediatrics 112: 101-107, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12837874/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12837874&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1542/peds.112.1.101&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12837874">Botto et al. (2003)</a> estimated that at least 700 infants with 22q11.2 deletion syndrome are born annually in the United States. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12837874" 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="animalModel" class="mim-anchor"></a>
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<p><a href="#72" class="mim-tip-reference" title="Lindsay, E. A., Botta, A., Jurecic, V., Carattini-Rivera, S., Cheah, Y.-C., Rosenblatt, H. M., Bradley, A., Baldini, A. &lt;strong&gt;Congenital heart disease in mice deficient for the DiGeorge syndrome region.&lt;/strong&gt; Nature 401: 379-383, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10517636/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10517636&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/43900&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10517636">Lindsay et al. (1999)</a> created an animal model for the DiGeorge syndrome using Cre-loxP chromosome engineering to delete a portion of mouse chromosome 16B that is homologous to human chromosome 22q11. At birth, heterozygous deleted mice were recovered at the predicted mendelian ratio, but no homozygous deleted mice were recovered. Deleted mice that survived on the first day of life were viable and fertile and grew normally. Forty-two deleted embryos were examined at 18.5 days postcoitum; 26% of them had cardiovascular abnormalities. The most common abnormality (found in 6 embryos) was retroesophageal right subclavian artery, which originated from the descending aorta, dorsal to the emergence of the left subclavian artery. In examining 56 adult deleted mice, they found that 18% had cardiovascular abnormalities. <a href="#72" class="mim-tip-reference" title="Lindsay, E. A., Botta, A., Jurecic, V., Carattini-Rivera, S., Cheah, Y.-C., Rosenblatt, H. M., Bradley, A., Baldini, A. &lt;strong&gt;Congenital heart disease in mice deficient for the DiGeorge syndrome region.&lt;/strong&gt; Nature 401: 379-383, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10517636/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10517636&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/43900&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10517636">Lindsay et al. (1999)</a> traced the embryologic origin of these abnormalities to defective development of the fourth pharyngeal arch arteries. Unlike patients with DiGeorge syndrome, deleted mice had normal levels of calcium, phosphorus, and parathyroid hormone, and normal percentages of B and T cells. The thymus was normal in size. In addition, no deleted mice had cleft palate or gross palatal abnormalities. <a href="#72" class="mim-tip-reference" title="Lindsay, E. A., Botta, A., Jurecic, V., Carattini-Rivera, S., Cheah, Y.-C., Rosenblatt, H. M., Bradley, A., Baldini, A. &lt;strong&gt;Congenital heart disease in mice deficient for the DiGeorge syndrome region.&lt;/strong&gt; Nature 401: 379-383, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10517636/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10517636&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/43900&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10517636">Lindsay et al. (1999)</a> genetically complemented the deletion using a chromosome carrying a duplication of the deleted region. Genetic complementation corrected the heart defects, indicating that they are caused by reduced dosage of genes located within the deleted region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10517636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#90" class="mim-tip-reference" title="Puech, A., Saint-Jore, B., Merscher, S., Russell, R. G., Cherif, D., Sirotkin, H., Xu, H., Factor, S., Kucherlapati, R., Skoultchi, A. I. &lt;strong&gt;Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region.&lt;/strong&gt; Proc. Nat. Acad. Sci. 97: 10090-10095, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10963672/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10963672&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=10963672[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.97.18.10090&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10963672">Puech et al. (2000)</a> used Cre-mediated recombination of LoxP sites in embryonic stem cells and mice to generate a 550-kb deletion encompassing 16 of the 27 genes that had been found in a 1.5-Mb region of 22q11 in the corresponding region of mouse chromosome 16. Mice heterozygous for this deletion were normal and exhibited no cardiovascular abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10963672" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#73" class="mim-tip-reference" title="Lindsay, E. A., Vitelli, F., Su, H., Morishima, M., Huynh, T., Pramparo, T., Jurecic, V., Ogunrinu, G., Sutherland, H. F., Scambler, P. J., Bradley, A., Baldini, A. &lt;strong&gt;Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice.&lt;/strong&gt; Nature 410: 97-101, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11242049/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11242049&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/35065105&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11242049">Lindsay et al. (2001)</a> used a combination of chromosome engineering and P1 artificial chromosome transgenesis to localize the gene in mouse chromosome 16 haploinsufficiency for which causes the cardiovascular phenotype described by <a href="#72" class="mim-tip-reference" title="Lindsay, E. A., Botta, A., Jurecic, V., Carattini-Rivera, S., Cheah, Y.-C., Rosenblatt, H. M., Bradley, A., Baldini, A. &lt;strong&gt;Congenital heart disease in mice deficient for the DiGeorge syndrome region.&lt;/strong&gt; Nature 401: 379-383, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10517636/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10517636&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/43900&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10517636">Lindsay et al. (1999)</a>. <a href="#73" class="mim-tip-reference" title="Lindsay, E. A., Vitelli, F., Su, H., Morishima, M., Huynh, T., Pramparo, T., Jurecic, V., Ogunrinu, G., Sutherland, H. F., Scambler, P. J., Bradley, A., Baldini, A. &lt;strong&gt;Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice.&lt;/strong&gt; Nature 410: 97-101, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11242049/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11242049&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/35065105&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11242049">Lindsay et al. (2001)</a> showed that Tbx1 (<a href="/entry/602054">602054</a>), a member of the T-box transcription factor family, is required for normal development of the pharyngeal arch arteries in a gene dosage-dependent manner. Deletion of 1 copy of Tbx1 affects the development of the fourth pharyngeal arch arteries, whereas homozygous mutation severely disrupts the entire pharyngeal arch artery system. <a href="#73" class="mim-tip-reference" title="Lindsay, E. A., Vitelli, F., Su, H., Morishima, M., Huynh, T., Pramparo, T., Jurecic, V., Ogunrinu, G., Sutherland, H. F., Scambler, P. J., Bradley, A., Baldini, A. &lt;strong&gt;Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice.&lt;/strong&gt; Nature 410: 97-101, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11242049/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11242049&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/35065105&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11242049">Lindsay et al. (2001)</a> concluded that haploinsufficiency of Tbx1 is sufficient to generate at least 1 important component of the DiGeorge syndrome phenotype in mice. Their data demonstrated the suitability of the mouse for the genetic dissection of microdeletion syndromes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10517636+11242049" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#58" class="mim-tip-reference" title="Jerome, L. A., Papaioannou, V. E. &lt;strong&gt;DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1.&lt;/strong&gt; Nature Genet. 27: 286-291, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11242110/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11242110&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/85845&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11242110">Jerome and Papaioannou (2001)</a> investigated the potential role of the Tbx1 gene in the causation of the DiGeorge syndrome phenotype. This gene, which encodes a transcription factor of the T-box family, maps to 22q11. They produced a null mutation of the Tbx1 gene in mice and found that mice heterozygous for the mutation had a high incidence of cardiac outflow tract anomalies, thus modeling one of the major abnormalities of the human syndrome. Moreover, Tbx1 -/- mice displayed a wide range of developmental anomalies encompassing almost all of the common DGS/VCFS features, including hypoplasia of the thymus and parathyroid glands, cardiac outflow tract abnormalities, abnormal facial structures, abnormal vertebrae, and cleft palate. On the basis of this phenotype in mice, <a href="#58" class="mim-tip-reference" title="Jerome, L. A., Papaioannou, V. E. &lt;strong&gt;DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1.&lt;/strong&gt; Nature Genet. 27: 286-291, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11242110/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11242110&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/85845&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11242110">Jerome and Papaioannou (2001)</a> proposed that TBX1 in humans is an etiology of DGS/VCFS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11242110" 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 the etiology of VCFS/DGS, <a href="#80" class="mim-tip-reference" title="Merscher, S., Funke, B., Epstein, J. A., Heyer, J., Puech, A., Lu, M. M., Xavier, R. J., Demay, M. B., Russell, R. G., Factor, S., Tokooya, K., St. Jore, B., and 12 others. &lt;strong&gt;TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.&lt;/strong&gt; Cell 104: 619-629, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11239417/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11239417&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0092-8674(01)00247-1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11239417">Merscher et al. (2001)</a> used a Cre-loxP strategy to generate mice that were hemizygous for a 1.5-Mb deletion corresponding to that on 22q11 in VCFS/DGS patients. These mice exhibited significant perinatal lethality and had conotruncal and parathyroid defects. The conotruncal defects could be partially rescued by a human BAC containing the TBX1 gene. Mice heterozygous for a null mutation in Tbx1 developed conotruncal defects. These results together with the expression patterns of TBX1 suggested a major role for the TBX1 gene in the molecular etiology of VCFS/DGS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11239417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#41" class="mim-tip-reference" title="Funke, B., Epstein, J. A., Kochilas, L. K., Lu, M. M., Pandita, R. K., Liao, J., Bauerndistel, R., Schuler, T., Schorle, H., Brown, M. C., Adams, J., Morrow, B. E. &lt;strong&gt;Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects.&lt;/strong&gt; Hum. Molec. Genet. 10: 2549-2556, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11709542/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11709542&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/10.22.2549&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11709542">Funke et al. (2001)</a> reported that mice overexpressing 4 transgenes (PNUTL1, <a href="/entry/602724">602724</a>; GP1BB, <a href="/entry/138720">138720</a>; TBX1, <a href="/entry/602054">602054</a>; and WDR14, <a href="/entry/610778">610778</a>) had chronic otitis media, a hyperactive circling behavior, and sensorineural hearing loss. This was associated with middle and inner ear malformations analogous to human Mondini dysplasia, reported to occur in VCFS/DGS patients. Based upon its pattern of expression in the ear and functional studies of the gene, the authors hypothesized that Tbx1 likely plays a central role in the etiology of ear defects in these mice, and that haploinsufficiency of TBX1 may be responsible for ear disorders in VCFS/DGS patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11709542" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The CRKL gene (<a href="/entry/602007">602007</a>) encodes an SH2-SH3-SH3 adaptor protein closely related to the Crk (<a href="/entry/164762">164762</a>) gene products. CRKL maps within the common deletion region for DGS/VCFS. <a href="#51" class="mim-tip-reference" title="Guris, D. L., Fantes, J., Tara, D., Druker, B. J., Imamoto, A. &lt;strong&gt;Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome.&lt;/strong&gt; Nature Genet. 27: 293-298, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11242111/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11242111&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/85855&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11242111">Guris et al. (2001)</a> reported that mice homozygous for a targeted null mutation at the Crkl locus exhibited defects in multiple cranial and cardiac neural crest derivatives including the cranial ganglia, aortic arch arteries, cardiac outflow tract, thymus, parathyroid glands, and craniofacial structures. They showed that the migration and early expansion of the neural crest cells is unaffected in Crkl -/- embryos. <a href="#51" class="mim-tip-reference" title="Guris, D. L., Fantes, J., Tara, D., Druker, B. J., Imamoto, A. &lt;strong&gt;Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome.&lt;/strong&gt; Nature Genet. 27: 293-298, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11242111/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11242111&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/85855&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11242111">Guris et al. (2001)</a> concluded that the similarity between the Crkl -/- phenotype and the clinical manifestations of DGS/VCFS implicate defects in CRKL-mediated signaling pathways as part of the molecular mechanism underlying this syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11242111" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#100" class="mim-tip-reference" title="Schinke, M., Izumo, S. &lt;strong&gt;Deconstructing DiGeorge syndrome.&lt;/strong&gt; Nature Genet. 27: 238-240, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11242098/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11242098&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/85784&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11242098">Schinke and Izumo (2001)</a> reviewed the genetic structure of the 22q11 region associated with DGS and the syntenic region of mouse chromosome 16. The gene order is inverted between human and mouse in a segment of this region. A table accompanying the figure summarized the phenotypes of mice homozygous or heterozygous mutant for chromosomal deletions or gene mutations of specific regions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11242098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#71" class="mim-tip-reference" title="Lindsay, E. A., Baldini, A. &lt;strong&gt;Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region.&lt;/strong&gt; Hum. Molec. Genet. 10: 997-1002, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11309372/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11309372&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/10.9.997&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11309372">Lindsay and Baldini (2001)</a> showed that in their mouse deletion model Df1, the aortic arch patterning defects that occur in heterozygous deletion mice (Df1/+) are associated with a differentiation impairment of vascular smooth muscle in the 4th pharyngeal arch arteries (PAAs) during early embryogenesis. As in humans, not all deletion mice presented with cardiovascular defects at birth. However, all Df1/+ embryos have abnormally small 4th PAAs during early embryogenesis, but many embryos later overcome this early defect, coincident with the appearance of vascular smooth muscle differentiation. The authors speculated that embryos born with aortic arch patterning defects probably represent a more severely affected group that fails to attain sufficient 4th PAA growth for normal remodeling of the PAA system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11309372" 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="#87" class="mim-tip-reference" title="Paylor, R., McIlwain, K. L., McAninch, R., Nellis, A., Yuva-Paylor, L. A., Baldini, A., Lindsay, E. A. &lt;strong&gt;Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments.&lt;/strong&gt; Hum. Molec. Genet. 10: 2645-2650, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11726551/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11726551&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/10.23.2645&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11726551">Paylor et al. (2001)</a> showed that Df1/+ mice have deficits in learning, memory, and sensorimotor gating, as measured by prepulse inhibition (PPI) of the startle response. The finding of sensorimotor gating deficits is particularly significant because DGS patients with schizophrenia and schizotypal personality disorder show similar deficits. By detailed mapping of Df1/+ mice, <a href="#86" class="mim-tip-reference" title="Paylor, R., Glaser, B., Mupo, A., Ataliotis, P., Spencer, C., Sobotka, A., Sparks, C., Choi, C.-H., Oghalai, J., Curran, S., Murphy, K. C., Monks, S., Williams, N., O&#x27;Donovan, M. C., Owen, M. J., Scambler, P. J., Lindsay, E. &lt;strong&gt;Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome.&lt;/strong&gt; Proc. Nat. Acad. Sci. 103: 7729-7734, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16684884/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16684884&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16684884[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.0600206103&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16684884">Paylor et al. (2006)</a> found that the PPI deficit was due to haploinsufficiency of 2 adjacent genes, Tbx1 and Gnb1l. Mutation in either gene was sufficient to cause reduced PPI. <a href="#86" class="mim-tip-reference" title="Paylor, R., Glaser, B., Mupo, A., Ataliotis, P., Spencer, C., Sobotka, A., Sparks, C., Choi, C.-H., Oghalai, J., Curran, S., Murphy, K. C., Monks, S., Williams, N., O&#x27;Donovan, M. C., Owen, M. J., Scambler, P. J., Lindsay, E. &lt;strong&gt;Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome.&lt;/strong&gt; Proc. Nat. Acad. Sci. 103: 7729-7734, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16684884/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16684884&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16684884[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.0600206103&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16684884">Paylor et al. (2006)</a> suggested that the Tbx1 gene may be a candidate for psychiatric disease in patients with DGS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11726551+16684884" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#115" class="mim-tip-reference" title="Vermot, J., Niederreither, K., Garnier, J.-M., Chambon, P., Dolle, P. &lt;strong&gt;Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice.&lt;/strong&gt; Proc. Nat. Acad. Sci. 100: 1763-1768, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12563036/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12563036&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12563036[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.0437920100&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12563036">Vermot et al. (2003)</a> generated mice bearing a hypomorphic allele of the gene encoding the retinoic acid-synthesizing enzyme RALDH2 (<a href="/entry/603687">603687</a>). The resulting mutant mice, which died perinatally, exhibited features of DiGeorge syndrome with heart outflow tract septation defects and anomalies of the aortic arch-derived head and neck arteries, laryngeal-tracheal cartilage defects, and thyroid/parathyroid aplasia or hypoplasia. Analysis of the Raldh2 hypomorph embryos showed selective defects of the posterior (third to sixth) branchial arches, including absence or hypoplasia of the corresponding aortic arches and pharyngeal pouches, and local downregulation of retinoic acid-target genes. Thus, a decreased level of embryonic retinoic acid (through genetic and/or nutritional causes) could represent a major modifier of the expressivity of human 22q11del-associated DiGeorge/velocardiofacial syndromes and, if severe enough, could on its own lead to the clinical features of the DiGeorge syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12563036" 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="#70" class="mim-tip-reference" title="Liao, J., Kochilas, L., Nowotschin, S., Arnold, J. S., Aggarwal, V. S., Epstein, J. A., Brown, M. C., Adams, J., Morrow, B. E. &lt;strong&gt;Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage.&lt;/strong&gt; Hum. Molec. Genet. 13: 1577-1585, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15190012/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15190012&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddh176&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15190012">Liao et al. (2004)</a> reported that mice hemizygous for a null allele of Tbx1 had mild malformations, while homozygotes had severe malformations in the affected structures. Neither pattern of malformation precisely modeled VCFS or DGS. Furthermore, bacterial artificial chromosome (BAC) transgenic mice overexpressing human TBX1 and 3 other transgenes had similar malformations to VCFS/DGS patients. By employing genetic complementation studies, the authors demonstrated that altered TBX1 dosage, rather than overexpression of the other transgenes, was responsible for most of the defects in the BAC transgenic mice. Furthermore, the full spectrum of VCFS/DGS malformations was elicited in a TBX1 dose-dependent manner, thus providing a molecular basis for the pathogenesis and varied expressivity of the syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15190012" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#74" class="mim-tip-reference" title="Long, J. M., LaPorte, P., Merscher, S., Funke, B., Saint-Jore, B., Puech, A., Kucherlapati, R., Morrow, B. E., Skoultchi, A. I., Wynshaw-Boris, A. &lt;strong&gt;Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome.&lt;/strong&gt; Neurogenetics 7: 247-257, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16900388/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16900388&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10048-006-0054-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16900388">Long et al. (2006)</a> found that mice hemizygous for a 1.5-Mb deletion on chromosome 16 (Lgdel/+) genes showed impairments in grip strength and nociception compared to wildtype mice. Lgdel/+ mice also showed impairment in prepulse inhibition (PPI) on sensorimotor gating testing, suggestive of neuropsychiatric impairment. Mice heterozygous for a mutation in the Tbx1 gene showed mildly impaired grip strength and decreased movement initiation. Mice with complete loss of the Gscl gene (<a href="/entry/601845">601845</a>) showed no behavioral changes on any of the tests. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16900388" 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>Individuals with 22q11.2 microdeletions show behavioral and cognitive deficits and are at high risk of developing schizophrenia. <a href="#107" class="mim-tip-reference" title="Stark, K. L., Xu, B., Bagchi, A., Lai, W.-S., Liu, H., Hsu, R., Wan, X., Pavlidis, P., Mills, A. A., Karayiorgou, M., Gogos, J. A. &lt;strong&gt;Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model.&lt;/strong&gt; Nature Genet. 40: 751-760, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18469815/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18469815&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.138&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18469815">Stark et al. (2008)</a> engineered a mouse strain carrying a hemizygous 1.3-Mb chromosomal deficiency spanning a segment syntenic to the human 22q11.2 locus. The hemizygous microdeletion, called Df(16)A(+/-), encompassed 27 genes and represented most of the functional genes in the human segment. Behaviorally, Df(16)A(+/-) mice were hyperactive compared to wildtype littermates and showed deficits in the PPI task. Males, but not females, appeared fearful of exploring their environment. <a href="#107" class="mim-tip-reference" title="Stark, K. L., Xu, B., Bagchi, A., Lai, W.-S., Liu, H., Hsu, R., Wan, X., Pavlidis, P., Mills, A. A., Karayiorgou, M., Gogos, J. A. &lt;strong&gt;Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model.&lt;/strong&gt; Nature Genet. 40: 751-760, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18469815/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18469815&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.138&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18469815">Stark et al. (2008)</a> found that Df(16)A(+/-) mice had abnormal brain microarchitecture, although no gross brain abnormalities were present. In the hippocampus, Df(16)A(+/-) mice had reduced number and size of dendritic spines and decreased dendritic complexity of CA1 pyramidal neurons. Analysis of heterozygous Dgcr8 (<a href="/entry/609030">609030</a>)-deficient mice revealed that altered miRNA biogenesis, dendritic complexity, and PPI performance in Df(16)A(+/-) mice was due to Dgcr8 haploinsufficiency. <a href="#107" class="mim-tip-reference" title="Stark, K. L., Xu, B., Bagchi, A., Lai, W.-S., Liu, H., Hsu, R., Wan, X., Pavlidis, P., Mills, A. A., Karayiorgou, M., Gogos, J. A. &lt;strong&gt;Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model.&lt;/strong&gt; Nature Genet. 40: 751-760, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18469815/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18469815&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.138&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18469815">Stark et al. (2008)</a> concluded that abnormal miRNA processing contributes to the behavioral and neuronal deficits associated with the human 22q11.2 deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18469815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Choi, M., Klingensmith, J. &lt;strong&gt;Chordin is a modifier of Tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse.&lt;/strong&gt; PLos Genet. 5: e1000395, 2009. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19247433/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19247433&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19247433[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1371/journal.pgen.1000395&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19247433">Choi and Klingensmith (2009)</a> demonstrated that chordin (CHRD; <a href="/entry/603475">603475</a>) is a modifier of the craniofacial anomalies observed in Tbx1 mutations in mice. The Chrd-null mouse phenotype includes dysmorphic ears, absence of the thymus, persistent truncus arteriosus, and cleft palate, which is similar to the phenotype of Tbx1-null mice. However, penetrance of the Chrd phenotype is highly dependent on genetic background. In an inbred Chrd-null mouse strain with full penetrance, the authors found that a splice site mutation in the Tbx1 gene was a modifier influencing phenotypic expression. Chrd-null mice without the Tbx1 mutation had a low penetrance of mandibular hypoplasia, but no cardiac or thoracic organ malformations. The hypomorphic Tbx1 allele resulted in defects resembling 22q11 deletion syndrome, but with a low penetrance of craniofacial malformations, unless Chrd was also mutant. Expression studies suggested that Chrd has a role in promoting Tbx1 expression. The findings suggested that chordin is a modifier of the craniofacial anomalies of Tbx1 mutations, demonstrating the existence of a second-site modifier for a specific subset of the phenotypes associated with 22q11 deletion syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19247433" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a mouse model of chromosome 22q11 deletion syndrome, <a href="#79" class="mim-tip-reference" title="Meechan, D. W., Tucker, E. S., Maynard, T. M., LaMantia, A.-S. &lt;strong&gt;Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome.&lt;/strong&gt; Proc. Nat. Acad. Sci. 106: 16434-16445, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19805316/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19805316&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19805316[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.0905696106&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19805316">Meechan et al. (2009)</a> demonstrated that decreased dosage of genes in this region was associated with compromised neurogenesis and differentiation in the cerebral cortex. There was a specific disruption of proliferation of basal progenitor cells in the subventricular zone and medial cortical regions. Apical progenitors and radial migration were not affected. Microarray analysis showed decreased expression of genes involved in cell-cycle function in the 22q11 region, including Ranbp1 (<a href="/entry/601180">601180</a>) and Cdc45l (<a href="/entry/603465">603465</a>), as well as those outside of the 22q11 region (e.g., cyclin D1, <a href="/entry/168461">168461</a>; E2f2, <a href="/entry/600426">600426</a>; and Sesn2, <a href="/entry/607767">607767</a>). There was a decrease in number of projection neurons in cortical layer 2-4, but not layer 5/6, and this change was associated with aberrant distribution of interneurons in upper and lower cortical layers. Deletion of the Tbx1 (<a href="/entry/602054">602054</a>) or Prodh (<a href="/entry/606810">606810</a>) genes did not disrupt basal progenitors. The findings provided evidence that diminished dosage of certain genes within the chromosome 22q11 region disrupts cortical neurogenesis and interneuron migration, which likely changes cortical circuitry, leading to cognitive deficits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19805316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#105" class="mim-tip-reference" title="Sigurdsson, T., Stark, K. L., Karayiorgou, M., Gogos, J. A., Gordon, J. A. &lt;strong&gt;Impaired hippocampal-prefrontal synchrony in a genetic mouse model of schizophrenia.&lt;/strong&gt; Nature 464: 763-767, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20360742/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20360742&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20360742[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nature08855&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20360742">Sigurdsson et al. (2010)</a> studied Df(16)A(+/-) mice, which model a microdeletion on human chromosome 22q11.2 that constitutes one of the largest known genetic risk factors for schizophrenia. To examine functional connectivity in these mice, <a href="#105" class="mim-tip-reference" title="Sigurdsson, T., Stark, K. L., Karayiorgou, M., Gogos, J. A., Gordon, J. A. &lt;strong&gt;Impaired hippocampal-prefrontal synchrony in a genetic mouse model of schizophrenia.&lt;/strong&gt; Nature 464: 763-767, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20360742/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20360742&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20360742[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nature08855&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20360742">Sigurdsson et al. (2010)</a> measured the synchronization of neural activity between the hippocampus and the prefrontal cortex during the performance of a task requiring working memory, which is one of the cognitive functions disrupted in the disease. In wildtype mice, hippocampal-prefrontal synchrony increased during working memory performance, consistent with previous reports in rats. Df(16)A(+/-) mice, which are impaired in the acquisition of the task, showed drastically reduced synchrony, measured both by phase-locking of prefrontal cells to hippocampal theta oscillations and by coherence of prefrontal and hippocampal local field potentials. Furthermore, the magnitude of hippocampal-prefrontal coherence at the onset of training could be used to predict the time it took the Df(16)A(+/-) mice to learn the task and increased more slowly during task acquisition. <a href="#105" class="mim-tip-reference" title="Sigurdsson, T., Stark, K. L., Karayiorgou, M., Gogos, J. A., Gordon, J. A. &lt;strong&gt;Impaired hippocampal-prefrontal synchrony in a genetic mouse model of schizophrenia.&lt;/strong&gt; Nature 464: 763-767, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20360742/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20360742&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20360742[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nature08855&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20360742">Sigurdsson et al. (2010)</a> concluded that their data suggested how the deficits in functional connectivity observed in patients with schizophrenia may be realized at the single-neuron level, and further suggested that impaired long-range synchrony of neural activity is one consequence of the 22q11.2 deletion and may be a fundamental component of the pathophysiology underlying schizophrenia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20360742" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The original description of the syndrome was derived from a published discussion at an immunology meeting (<a href="#21" class="mim-tip-reference" title="Cooper, M. D., Peterson, R. D. A., Good, R. A. &lt;strong&gt;A new concept of the cellular basis of immunology.&lt;/strong&gt; J. Pediat. 67: 907-908, 1965."None>Cooper et al., 1965</a>). <a href="#29" class="mim-tip-reference" title="DiGeorge, A. M. &lt;strong&gt;Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism.&lt;/strong&gt; Birth Defects Orig. Art. Ser. IV(1): 116-121, 1968."None>DiGeorge (1968)</a> published a formal report 3 years later. The report by <a href="#110" class="mim-tip-reference" title="Strong, W. B. &lt;strong&gt;Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism.&lt;/strong&gt; J. Pediat. 73: 882-888, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5696314/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5696314&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(68)80241-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5696314">Strong (1968)</a> predated this formal report and probably represents the same variable disorder. <a href="#63" class="mim-tip-reference" title="Kimura, A. &lt;strong&gt;Surgical management of velopharyngeal insufficiency in 31 patients without cleft palate.&lt;/strong&gt; Practica Otologica 70: 597, 1977."None>Kimura (1977)</a> reported velopharyngeal deficiency in a series of patients without cleft palate. The Japanese language report by <a href="#64" class="mim-tip-reference" title="Kinouchi, A., Mori, K., Ando, M., Takao, A. &lt;strong&gt;Facial appearance of patients with conotruncal abnormalities..&lt;/strong&gt; Pediat. Jpn. 17: 84, 1976."None>Kinouchi et al. (1976)</a> and the English reports, by <a href="#112" class="mim-tip-reference" title="Takao, A., Ando, M., Cho, K., Kinouchi, A., Murakami, Y. &lt;strong&gt;Etiologic categorization of common congenital heart disease.In: Van Praagh, R.; Takao, A. (eds.) : Etiology and Morphogenesis of Congenital Heart Disease.&lt;/strong&gt; Mount Kisco, N. Y.: Futura Publishing Company (pub.) 1980. Pp. 253-269."None>Takao et al. (1980)</a>and <a href="#103" class="mim-tip-reference" title="Shimizu, T., Takao, A., Ando, M., Hirayama, A. &lt;strong&gt;Conotruncal face syndrome: its heterogeneity and association with thymus involution.In: Nora, J. J.; Takao, A. : Congenital Heart Disease: Causes and Processes.&lt;/strong&gt; Mount Kisco, N. Y.: Futura Publishing (pub.) 1984. Pp. 29-41."None>Shimizu et al. (1984)</a>, delineated the syndrome in the Japanese population. The acronym CATCH22 derives from the phrase Catch 22, which was used by Joseph Heller as the title of his book (<a href="#55" class="mim-tip-reference" title="Heller, J. &lt;strong&gt;Catch 22.&lt;/strong&gt; London: Jonathan Cape (pub.) 1962."None>Heller, 1962</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5696314" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Asamoto1977" class="mim-tip-reference" title="Asamoto, H., Furuta, M. &lt;strong&gt;DiGeorge syndrome associated with glioma and two kinds of viral infection. (Letter)&lt;/strong&gt; New Eng. J. Med. 296: 1235 only, 1977.">Asamoto and Furuta (1977)</a>; <a href="#Burn1995" class="mim-tip-reference" title="Burn, J., Wilson, D. I., Cross, I., Atif, U., Scambler, P., Takao, A., Goodship, J. &lt;strong&gt;The clinical significance of 22q11 deletion.In: Clark, E. B.; Markwald, R. R.; Takao, A. (eds.) : Developmental Mechanisms of Heart Disease.&lt;/strong&gt; Armonk, New York: Futura Publ., 1995. Pp. 559-567.">Burn et al. (1995)</a>; <a href="#De1995" class="mim-tip-reference" title="De Silva, D., Duffty, P., Booth, P., Auchterlonie, I., Morrison, N., Dean, J. C. S. &lt;strong&gt;Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity.&lt;/strong&gt; Clin. Dysmorph. 4: 294-303, 1995.">De Silva et al.
(1995)</a>; <a href="#Gripp1997" class="mim-tip-reference" title="Gripp, K. W., McDonald-McGinn, D. M., Driscoll, D. A., Reed, L. A., Emanuel, B. S., Zackai, E. H. &lt;strong&gt;Nasal dimple as part of the 22q11.2 deletion syndrome.&lt;/strong&gt; Am. J. Med. Genet. 69: 290-292, 1997.">Gripp et al. (1997)</a>; <a href="#Lai1992" class="mim-tip-reference" title="Lai, M. M. R., Scriven, P. N., Ball, C., Berry, A. C. &lt;strong&gt;Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism.&lt;/strong&gt; J. Med. Genet. 29: 586-588, 1992.">Lai et al. (1992)</a>; <a href="#Monaco1991" class="mim-tip-reference" title="Monaco, G., Pignata, C., Rossi, E., Mascellaro, O., Cocozza, S., Ciccimarra, F. &lt;strong&gt;DiGeorge anomaly associated with 10p deletion.&lt;/strong&gt; Am. J. Med. Genet. 39: 215-216, 1991.">Monaco et al. (1991)</a>; <a href="#Novak1994" class="mim-tip-reference" title="Novak, R. W., Robinson, H. B. &lt;strong&gt;Coincident DiGeorge anomaly and renal agenesis and its relation to maternal diabetes.&lt;/strong&gt; Am. J. Med. Genet. 50: 311-312, 1994.">Novak and Robinson (1994)</a>; <a href="#Radford1988" class="mim-tip-reference" title="Radford, D. J., Perkins, L., Lackman, R., Thong, Y. H. &lt;strong&gt;Spectrum of DiGeorge syndrome in patients with truncus arteriosus: Expanded DiGeorge syndrome.&lt;/strong&gt; Pediat. Cardiol. 9: 95-101, 1988.">Radford et al. (1988)</a>; <a href="#Ryan1997" class="mim-tip-reference" title="Ryan, A. K., Goodship, J. A., Wilson, D. I., Philip, N., Levy, A., Seidel, H., Schuffenhauer, S., Oechsler, H., Belohradsky, B., Prieur, M., Aurias, A., Raymond, F. L., and 17 others. &lt;strong&gt;Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.&lt;/strong&gt; J. Med. Genet. 34: 798-804, 1997.">Ryan et al. (1997)</a>; <a href="#Sato1999" class="mim-tip-reference" title="Sato, T., Tatsuzawa, O., Koike, Y., Wada, Y., Nagata, M., Kobayashi, S., Ishizawa, A., Miyauchi, J., Shimizu, K. &lt;strong&gt;B-cell lymphoma associated with DiGeorge syndrome. (Letter)&lt;/strong&gt; Europ. J. Pediat. 158: 609 only, 1999.">Sato et al. (1999)</a>; <a href="#Tewfik1977" class="mim-tip-reference" title="Tewfik, H. H., Ptacek, J. J., Krause, C. J., Latourette, H. B. &lt;strong&gt;DiGeorge syndrome associated with multiple squamous cell carcinomas.&lt;/strong&gt; Arch. Otolaryng. 103: 105-107, 1977.">Tewfik et al. (1977)</a>
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<a id="Ammann1982" class="mim-anchor"></a>
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Ammann, A. J., Wara, D. W., Cowan, M. J., Barrett, D. J., Stiehm, E. R.
<strong>The DiGeorge syndrome and the fetal alcohol syndrome.</strong>
Am. J. Dis. Child. 136: 906-908, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6812410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6812410</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6812410" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archpedi.1982.03970460036008" target="_blank">Full Text</a>]
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<a id="Asamoto1977" class="mim-anchor"></a>
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Asamoto, H., Furuta, M.
<strong>DiGeorge syndrome associated with glioma and two kinds of viral infection. (Letter)</strong>
New Eng. J. Med. 296: 1235 only, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/193003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">193003</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=193003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM197705262962119" target="_blank">Full Text</a>]
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<a id="Atkin1982" class="mim-anchor"></a>
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Atkin, J. F., Hsia, Y. E., Sommer, A.
<strong>Familial DiGeorge syndrome in 7 children. (Abstract)</strong>
Am. J. Hum. Genet. 34: 80A, 1982.
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<a id="Aubry1993" class="mim-anchor"></a>
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Aubry, M., Demczuk, S., Desmaze, C., Aikem, M., Aurias, A., Julien, J., Rouleau, G. A.
<strong>Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome.</strong>
Hum. Molec. Genet. 2: 1583-1587, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8268910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8268910</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8268910" 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/2.10.1583" target="_blank">Full Text</a>]
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Augusseau, S., Jouk, S., Jalbert, P., Prieur, M.
<strong>DiGeorge syndrome and 22q11 rearrangements. (Letter)</strong>
Hum. Genet. 74: 206, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3770751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3770751</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3770751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00282098" target="_blank">Full Text</a>]
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<a id="Baldini2002" class="mim-anchor"></a>
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Baldini, A.
<strong>DiGeorge syndrome: the use of model organisms to dissect complex genetics.</strong>
Hum. Molec. Genet. 11: 2363-2369, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12351571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12351571</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12351571" 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/11.20.2363" target="_blank">Full Text</a>]
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Bartsch, O., Nemeckova, M., Kocarek, E., Wagner, A., Puchmajerova, A., Poppe, M., Ounap, K., Goetz, P.
<strong>DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion.</strong>
Am. J. Med. Genet. 117A: 1-5, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12548732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12548732</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12548732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.10914" target="_blank">Full Text</a>]
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<a id="Bassett2005" class="mim-anchor"></a>
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Bassett, A. S., Chow, E. W. C., Husted, J., Weksberg, R., Caluseriu, O., Webb, G. D., Gatzoulis, M. A.
<strong>Clinical features of 78 adults with 22q11 deletion syndrome.</strong>
Am. J. Med. Genet. 138A: 307-313, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16208694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16208694</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16208694[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=16208694" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.30984" target="_blank">Full Text</a>]
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<a id="Binenbaum2008" class="mim-anchor"></a>
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Binenbaum, G., McDonald-McGinn, D. M., Zackai, E. H., Walker, B. M., Coleman, K., Mach, A. M., Adam, M., Manning, M., Alcorn, D. M., Zabel, C., Anderson, D. R., Forbes, B. J.
<strong>Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.</strong>
Am. J. Med. Genet. 146A: 904-909, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18324686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18324686</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18324686" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.32156" target="_blank">Full Text</a>]
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<a id="Boot2023" class="mim-anchor"></a>
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Boot, E., Oskarsdottir, S., Loo, J. C. Y., Crowley, T. B., Orchanian-Cheff, A., Andrade, D. M., Arganbright, J. M., Castelein, R. M., Cserti-Gazdewich, C., de Reuver, S., Fiksinski, A. M., Klingberg, G., and 17 others.
<strong>Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.</strong>
Genet. Med. 25: 100344, 2023.
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[<a href="https://doi.org/10.1002/ajmg.a.30756" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1034/j.1399-0004.1998.531530113.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.jaapos.2006.08.006" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.10625" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/10.22.2549" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1101/gr.7.1.17" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM198812153192407" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1176/appi.ajp.163.3.537" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/adc.79.4.348" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.32.9.746" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/301718" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00291554" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/85855" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/2.12.2099" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/2.10.1577" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.30.10.801" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.38.8.533" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/85845" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/GIM.0b013e31822c79f9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1067/mpd.2001.119448" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(82)80116-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(88)80640-1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.31289" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.29.8.586" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM198510033131401" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320390220" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320500402" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.gim.2022.11.006" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320460608" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.0600206103" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.97.18.10090" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF02083707" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.31443" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(84)80355-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/ddh041" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.31.5.423-b" target="_blank">Full Text</a>]
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Sigurdsson, T., Stark, K. L., Karayiorgou, M., Gogos, J. A., Gordon, J. A.
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[<a href="https://doi.org/10.1038/nature08855" target="_blank">Full Text</a>]
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<p class="mim-text-font">
Stalmans, I., Lambrechts, D., De Smet, F., Jansen, S., Wang, J., Maity, S., Kneer, P., von der Ohe, M., Swillen, A., Maes, C., Gewillig, M., Molin, D. G. M., and 20 others.
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[<a href="https://doi.org/10.1038/nm819" target="_blank">Full Text</a>]
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Stark, K. L., Xu, B., Bagchi, A., Lai, W.-S., Liu, H., Hsu, R., Wan, X., Pavlidis, P., Mills, A. A., Karayiorgou, M., Gogos, J. A.
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[<a href="https://doi.org/10.1038/ng.138" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM197210192871602" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(68)80241-0" target="_blank">Full Text</a>]
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Sundaram, U. T., McDonald-McGinn, D. M., Huff, D., Emanuel, B. S., Zackai, E. H., Driscoll, D. A., Bodurtha, J.
<strong>Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome.</strong>
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[<a href="https://doi.org/10.1002/ajmg.a.31736" target="_blank">Full Text</a>]
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Tewfik, H. H., Ptacek, J. J., Krause, C. J., Latourette, H. B.
<strong>DiGeorge syndrome associated with multiple squamous cell carcinomas.</strong>
Arch. Otolaryng. 103: 105-107, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/836226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">836226</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=836226" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archotol.1977.00780190085011" target="_blank">Full Text</a>]
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Toriello, H. V., Sharda, J. K., Beaumont, E. J.
<strong>Autosomal recessive syndrome of sacral and conotruncal developmental field defects (Kousseff syndrome).</strong>
Am. J. Med. Genet. 22: 357-360, 1985.
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[<a href="https://doi.org/10.1002/ajmg.1320220220" target="_blank">Full Text</a>]
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<strong>Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice.</strong>
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[<a href="https://doi.org/10.1073/pnas.0437920100" target="_blank">Full Text</a>]
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Vincent, M.-C., Heitz, F., Tricoire, J., Bourrouillou, G., Kuhlein, E., Rolland, M., Calvas, P.
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Wilson, D. I., Burn, J., Scambler, P., Goodship, J.
<strong>DiGeorge syndrome, part of CATCH 22.</strong>
J. Med. Genet. 30: 852-856, 1993.
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[<a href="https://doi.org/10.1136/jmg.30.10.852" target="_blank">Full Text</a>]
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Wilson, D. I., Cross, I. E., Goodship, J. A., Brown, J., Scambler, P. J., Bain, H. H., Taylor, J. F. N., Walsh, K., Bankier, A., Burn, J., Wolstenholme, J.
<strong>A prospective cytogenetic study of 36 cases of DiGeorge syndrome.</strong>
Am. J. Hum. Genet. 51: 957-963, 1992.
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<a id="Wilson1991" class="mim-anchor"></a>
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Wilson, D. I., Cross, I. E., Goodship, J. A., Coulthard, S., Carey, A. H., Scambler, P. J., Bain, H. H., Hunter, A. S., Carter, P. E., Burn, J.
<strong>DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin.</strong>
Brit. Heart J. 66: 308-312, 1991.
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[<a href="https://doi.org/10.1136/hrt.66.4.308" target="_blank">Full Text</a>]
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<a id="Wilson1992" class="mim-anchor"></a>
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Wilson, D. I., Goodship, J. A., Burn, J., Cross, I. E., Scambler, P. J.
<strong>Deletions within chromosome 22q11 in familial congenital heart disease.</strong>
Lancet 340: 573-575, 1992.
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[<a href="https://doi.org/10.1016/0140-6736(92)92107-q" target="_blank">Full Text</a>]
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<a id="Yagi2003" class="mim-anchor"></a>
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Yagi, H., Furutani, Y., Hamada, H., Sasaki, T., Asakawa, S., Minoshima, S., Ichida, F., Joo, K., Kimura, M., Imamura, S., Kamatani, N., Momma, K., Takao, A., Nakazawa, M., Shimizu, N., Matsuoka, R.
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Lancet 362: 1366-1373, 2003.
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[<a href="https://doi.org/10.1016/s0140-6736(03)14632-6" target="_blank">Full Text</a>]
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Carol A. Bocchini - updated : 11/19/2024
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Ada Hamosh - updated : 05/03/2019<br>Ada Hamosh - updated : 1/31/2014<br>Ada Hamosh - updated : 10/14/2013<br>Ada Hamosh - updated : 10/4/2012<br>Cassandra L. Kniffin - updated : 12/27/2010<br>Cassandra L. Kniffin - updated : 11/29/2010<br>Ada Hamosh - updated : 4/28/2010<br>Ada Hamosh - updated : 7/28/2009<br>Cassandra L. Kniffin - updated : 6/5/2009<br>Marla J. F. O'Neill - updated : 10/27/2008<br>Patricia A. Hartz - updated : 7/16/2008<br>Cassandra L. Kniffin - updated : 3/19/2008<br>Kelly A. Przylepa - updated : 10/25/2007<br>Jane Kelly - updated : 9/25/2007<br>Cassandra L. Kniffin - updated : 4/25/2007<br>Cassandra L. Kniffin - updated : 3/13/2007<br>Marla J. F. O'Neill - updated : 2/5/2007<br>George E. Tiller - updated : 1/16/2007<br>Cassandra L. Kniffin - updated : 12/6/2006<br>George E. Tiller - updated : 12/4/2006<br>Cassandra L. Kniffin - updated : 8/18/2006<br>Marla J. F. O'Neill - updated : 7/26/2006<br>Cassandra L. Kniffin - updated : 6/1/2006<br>John Logan Black, III - updated : 5/23/2006<br>Cassandra L. Kniffin - updated : 4/27/2006<br>John A. Phillips, III - updated : 4/5/2006<br>Cassandra L. Kniffin - updated : 3/9/2006<br>Cassandra L. Kniffin - updated : 10/31/2005<br>Victor A. McKusick - updated : 12/23/2003<br>George E. Tiller - updated : 12/2/2003<br>Deborah L. Stone - updated : 5/29/2003<br>Victor A. McKusick - updated : 3/27/2003<br>Victor A. McKusick - updated : 3/6/2003<br>Ada Hamosh - updated : 2/27/2003<br>Michael J. Wright - updated : 7/29/2002<br>George E. Tiller - updated : 5/21/2002<br>George E. Tiller - updated : 5/9/2002<br>Ada Hamosh - updated : 1/29/2002<br>George E. Tiller - updated : 10/2/2001<br>Ada Hamosh - updated : 3/7/2001<br>Stylianos E. Antonarakis - updated : 3/6/2001<br>Victor A. McKusick - updated : 2/22/2001<br>Victor A. McKusick - updated : 10/11/2000<br>George E. Tiller - updated : 4/14/2000<br>Armand Bottani - updated : 3/15/2000<br>Michael J. Wright - updated : 1/6/2000<br>Wilson H. Y. Lo - updated : 11/22/1999<br>Ada Hamosh - updated : 10/7/1999<br>Armand Bottani - updated : 9/23/1999<br>Wilson H. Y. Lo - updated : 9/22/1999<br>Wilson H. Y. Lo - updated : 8/12/1999<br>Wilson H. Y. Lo - updated : 8/12/1999<br>Paul Brennan - updated : 2/18/1999<br>Michael J. Wright - updated : 6/5/1998<br>Victor A. McKusick - updated : 4/14/1998<br>Victor A. McKusick - updated : 3/27/1998<br>Victor A. McKusick - updated : 5/27/1997<br>Victor A. McKusick - updated : 5/16/1997<br>Victor A. McKusick - updated : 4/7/1997<br>Mark H. Paalman - updated : 1/23/1997<br>Iosif W. Lurie - updated : 1/23/1997<br>Iosif W. Lurie - updated : 8/11/1996<br>Moyra Smith - Updated : 5/25/1996<br>Mark H. Paalman - updated : 4/25/1996<br>John Burn - updated : 5/11/1994
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Victor A. McKusick : 6/2/1986
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carol : 11/19/2024
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<strong>#</strong> 188400
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DIGEORGE SYNDROME; DGS
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<em>Alternative titles; symbols</em>
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CHROMOSOME 22q11.2 DELETION SYNDROME<br />
HYPOPLASIA OF THYMUS AND PARATHYROIDS<br />
THIRD AND FOURTH PHARYNGEAL POUCH SYNDROME
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Other entities represented in this entry:
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DIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED
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TAKAO VCF SYNDROME, INCLUDED<br />
CATCH22, INCLUDED
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<strong>SNOMEDCT:</strong> 767263007; &nbsp;
<strong>ICD10CM:</strong> D82.1; &nbsp;
<strong>ICD9CM:</strong> 279.11; &nbsp;
<strong>ORPHA:</strong> 567, 685017; &nbsp;
<strong>DO:</strong> 11198; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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22q11.21
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DiGeorge syndrome
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188400
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Autosomal dominant
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3
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TBX1
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602054
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because DiGeorge syndrome is caused by a 1.5- to 3.0-Mb heterozygous deletion of chromosome 22q11.2. Haploinsufficiency of the TBX1 gene (602054) in particular is responsible for most of the physical malformations. There is evidence that point mutations in the TBX1 gene can also cause the disorder.</p>
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<strong>Description</strong>
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<p>DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS; 192430); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see 601362). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.</p>
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<strong>Nomenclature</strong>
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<p>DiGeorge syndrome overlaps clinically with the disorder described by the Japanese as 'conotruncal anomaly face syndrome' (Kinouchi et al., 1976; Takao et al., 1980; Shimizu et al., 1984), where the cardiovascular presentation is the focus of attention. The term conotruncal anomaly face syndrome is cumbersome and has the disadvantage of using embryologic assumptions as a title. It would be appropriate to use Takao syndrome for those cases with a preponderant cardiac presentation in contrast to the low T cell and hypocalcemic presentation in infancy of DiGeorge syndrome and the craniofacial and palatal abnormalities typical of Shprintzen syndrome. These 3 phenotypes may be seen in the same family and most cases of all 3 categories have been shown to have a 22q11 deletion. This led Wilson et al. (1993) to propose the acronym CATCH22 (Cardiac Abnormality/abnormal facies, T cell deficit due to thymic hypoplasia, Cleft palate, Hypocalcemia due to hypoparathyroidism resulting from 22q11 deletion) as a collective acronym for those with the common genetic etiology. Shprintzen (1994) objected to 'lumping' velocardiofacial syndrome with the DiGeorge anomaly, arguing that there is 'no valid evidence to suggest that velocardiofacial syndrome is etiologically heterogeneous...[whereas] the DiGeorge anomaly is known to be so.' Hall (1993) cited data of Driscoll et al. (1993) indicating that velocardiofacial syndrome is etiologically heterogeneous. She stated that '...68% of Shprintzen syndrome patients...have been recognised to have deletions of 22q11.' Shprintzen (1994) refuted her statement, maintaining that it could accurately be stated that deletion was found in 68% of patients sent to the Driscoll laboratory with a diagnosis of velocardiofacial syndrome made by other clinicians. Shprintzen (1994) said that in his sample, 100% had deletion. </p><p>Burn (1999), one of the original proposers of the acronym CATCH22, reviewed the discussion of nomenclature. He recognized that the term CATCH22 had a number of negative connotations and that in practice different terms were in use for this phenotype and would continue to be so. Burn (1999) proposed that the term DiGeorge syndrome be reserved for those with neonatal presentation, particularly with thymic hypoplasia and hypocalcemia, and that the designation VCFS be used for children with a presentation dominated by nasal speech due to palatal insufficiency. He also suggested that 'conotruncal anomaly face' be replaced by 'Takao syndrome' and pointed out that the term '22q11 deletion syndrome' was reasonable. Finally, Burn (1999) proposed that 'CATCH phenotype' be used rather than CATCH22 and that the acronym be taken to represent cardiac abnormality, T cell deficit, clefting, and hypocalcemia. </p>
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<strong>Clinical Features</strong>
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<p>DiGeorge syndrome is characterized by neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells. The immune deficit is caused by hypoplasia or aplasia of the thymus gland. A variety of cardiac malformations are seen in particular affecting the outflow tract. These include tetralogy of Fallot, type B interrupted aortic arch, truncus arteriosus, right aortic arch and aberrant right subclavian artery. In infancy, micrognathia may be present. The ears are typically low set and deficient in the vertical diameter with abnormal folding of the pinna. Telecanthus with short palpebral fissures is seen. Both upward and downward slanting eyes have been described. The philtrum is short and the mouth relatively small. In the older child the features overlap Shprintzen syndrome (velocardiofacial syndrome) with a rather bulbous nose and square nasal tip and hypernasal speech associated with submucous or overt palatal clefting. Cases presenting later tend to have a milder spectrum of cardiac defect with ventricular septal defect being common.</p><p>Short stature and variable mild to moderate learning difficulties are common. A variety of psychiatric disorders have been described in a small proportion of adult cases of velocardiofacial syndrome. These have included paranoid schizophrenia and major depressive illness. Clinical features seen more rarely include hypothyroidism, cleft lip, and deafness.</p><p>Goodship et al. (1995) described monozygotic twin brothers with precisely the same 22q11.2 deletion but somewhat discordant clinical phenotype. Both twins had a small mouth, square nasal tip, short palpebral fissures, and small ears with deficient upper helices. Twin 1 had bilateral hair whorls and twin 2 had a right-sided hair whorl. Toes 4 and 5 were curled under bilaterally in both boys, this being more marked in twin 1. The twins were said to have had a single placenta although the findings of a detailed examination were not recorded. Twin 1 weighed 2,200 g and twin 2 weighed 2,800 g. Twin 1 had tetralogy of Fallot, which was repaired at 1 year of age. Twin 2 had a normal cardiovascular system. Twin 1 started taking steps at 24 months of age, while his brother stood at 13 months and walked steadily at 18 months. These observations indicated to Goodship et al. (1995) that differences in deletion size and modifying genetic loci are not responsible for all the phenotypic differences observed in CATCH22. </p><p>Vincent et al. (1999) reported the case of female monozygotic twins with 22q11 deletions. The twins shared facial characteristics of DGS/VCFS and immunologic defect. However, only one, who died on day 5, had a cardiac defect, composed of an interrupted aortic arch with a ventricular septal defect, a truncus arteriosus, and a large arterial duct. The authors stated that this was the fourth report of a discrepant cardiac status between monozygotic twins harboring 22q11 deletions. </p><p>Wilson et al. (1992) looked for deletions in 9 families with 2 or more cases of outflow tract heart defects. In 5 of the families, chromosome 22 deletions were detected in all living affected persons studied and also in the clinically normal father of 3 affected children. The deletion was transmitted from parents to offspring and was associated with an increase in the severity of cardiac defects. No deletions were found in 4 families in which the parents were normal and affected sibs had anatomically identical defects, presumably an autosomal recessive form of congenital heart defect. </p><p>Fokstuen et al. (1998) analyzed 110 patients with nonselective syndromic or isolated nonfamilial congenital heart malformations by fluorescence in situ hybridization using the D22S75 DGS region probe. A 22q11.2 microdeletion was detected in 9 of 51 (17.6%) syndromic patients. Five were of maternal origin and 4 of paternal origin. None of the 59 patients with isolated congenital cardiac defect had the 22q11.2 deletion. In a study of 157 consecutively catheterized patients with isolated, nonsyndromic cardiac defects, and 25 patients with cardiac malformation and additional abnormalities (10 of whom had been clinically diagnosed as DiGeorge syndrome or velocardiofacial syndrome), Borgmann et al. (1999) found the 22q11.2 microdeletion only in the latter group. </p><p>Jawad et al. (2001) studied 195 patients with chromosome 22q11 deletion syndrome and found that diminished T-cell counts in the peripheral blood are common. The pattern of changes seen with aging in normal control patients was also seen in patients with the chromosome 22q11.2 deletion syndrome, although the decline in T cells was blunted. Autoimmune disease was seen in most age groups, although the types of disorders varied according to age. Infections were also common in older patients, although they were seldom life-threatening. Juvenile rheumatoid arthritis with onset between 1.5 and 6 years of age was seen in 4 of the 195 patients; idiopathic thrombocytopenia purpura with onset at 1 to 8 years of age was seen in 8 of 195 patients; autoimmune hemolytic anemia, psoriasis, vitiligo, inflammatory bowel disease, adult rheumatoid arthritis, and rheumatic fever with chorea were each seen in 1 patient of the 195 patients sampled. </p><p>Kawame et al. (2001) reported 5 patients with chromosome 22q11.2 deletion that manifested Graves disease between the ages of 27 months and 16 years, and suggested that Graves disease may be part of the clinical spectrum of this disorder. </p><p>Bassett et al. (2005) described the phenotypic features of 78 adults with 22q11 deletion syndrome and identified 43 distinct features present in more than 5% of patients. Common characteristic features included intellectual disabilities (92.3%), hypocalcemia (64%), palatal anomalies (42%), and cardiovascular anomalies (25.8%). Other less commonly appreciated features included obesity (35%), hypothyroidism (20.5%), hearing deficits (28%), cholelithiasis (19%), scoliosis (47%), and dermatologic abnormalities (severe acne, 23%; seborrhea, 35%). Significantly, schizophrenia was present in 22.6% of patients. </p><p>Maalouf et al. (2004) reported an African American male diagnosed at age 32 years with dysgenesis of the parathyroid glands due to a chromosome 22 microdeletion. Symptomatic hypocalcemia did not develop until age 14 years, a few weeks after initiation of anticonvulsant therapy for generalized tonic-clonic seizures. Because of the timing for onset of symptomatic hypocalcemia, it was presumed that the patient had anticonvulsant-induced hypocalcemia, and he carried that diagnosis for 18 years. Chromosome 22q11 deletion syndrome was first suspected at age 32 years. The diagnosis was confirmed by fluorescence in situ hybridization analysis. This case underscores the variable clinical presentation of this congenital form of hypoparathyroidism. </p><p>Kousseff (1984) described 3 sibs with a syndrome of sacral meningocele, conotruncal cardiac defects, unilateral renal agenesis (in 1 sib), low-set and posteriorly angulated ears, retrognathia, and short neck with low posterior hairline. Kousseff (1984) suggested autosomal recessive inheritance. Toriello et al. (1985) reported a similar, isolated case and designated the disorder Kousseff syndrome. Forrester et al. (2002) restudied the family reported by Kousseff (1984) and identified a 22q11-q13 deletion in the proband, his deceased brother, and his father. The proband had spina bifida, shunted hydrocephalus, cleft palate, short stature, cognitive impairment, and the typical craniofacial features of velocardiofacial syndrome, including low-set and dysplastic ears, broad base of the nose, narrow alae nasi, and retrognathia. His brother had died at 2 weeks of age with myelomeningocele, hydrocephalus, transposition of the great vessels, and unilateral renal agenesis, and his sister had died at 22 days of age with myelomeningocele, truncus arteriosus, hypocalcemia, and autopsy findings of absent thymus and parathyroid glands, consistent with DiGeorge anomaly. </p><p>Maclean et al. (2004) reported 2 unrelated patients with Kousseff syndrome, 1 with a 22q11.2 deletion and the other without. The first was a 4-year-old girl with a sacral myelomeningocele, tetralogy of Fallot, microcephaly, hydrocephalus, hypoplasia of the corpus callosum, and moderate developmental delay, who had a normal chromosome 22q11.2 FISH test and did not exhibit the facial phenotype of VCFS. The second patient, a male infant who died at 10 days of age, had a large sacral myelomeningocele, hydrocephalus, Arnold-Chiari malformation, atrial septal defect, conoventricular ventricular septal defect, type B interrupted aortic arch, hypocalcemia, and suspected duodenal stenosis; FISH testing revealed a 22q11.2 microdeletion. Maclean et al. (2004) concluded that Kousseff syndrome is a distinct clinical entity that is genetically heterogeneous. </p><p>Kujat et al. (2006) reported that 5 (83%) of 6 patients with a 22q11.2 microdeletion had renal anomalies, including renal dysplasia, hydronephrosis, and unilateral renal agenesis. </p><p>Robin et al. (2006) reviewed clinical data including brain imaging on 21 patients with polymicrogyria associated with deletion 22q11.2 and another 11 patients from the literature. The authors found that the cortical malformation consisted of perisylvian polymicrogyria of variable severity and frequent asymmetry with a striking predisposition for the right hemisphere (p = 0.008). </p><p>Forbes et al. (2007) reported the ocular features of 90 consecutive patients with confirmed 22q11.2 deletion syndrome. Posterior embryotoxon was found in 49%, tortuous retinal vessels in 34%, eyelid hooding in 20%, strabismus in 18%, ptosis in 4%, amblyopia in 4%, and tilted optic nerves in 1%. </p><p>Sundaram et al. (2007) described 2 patients with 22q11.2 deletion who had absent uterus and unilateral renal agenesis. One patient also had mild developmental delay, hypoparathyroidism, and psychiatric symptoms; the other patient also had high-arched palate, bulbous nasal tip, bicuspid aortic valve, short stature, and primary amenorrhea. Sundaram et al. (2007) suggested that mullerian or uterine/vaginal agenesis be included as part of the clinical spectrum of 22q11.2 deletion syndrome. Scheuerle (2008) reported a 14-year-old Latin American girl with 22q11.2 deletion syndrome who was found to have unilateral renal agenesis, uterine didelphys with duplication of the cervix, and imperforate vaginal hymen with hematometrocolpos. </p><p>Binenbaum et al. (2008) reported 4 boys and 3 girls with 22q11.2 deletion syndrome, including 5 who had bilateral sclerocornea. Other eye findings included descemetocele in 5 eyes, microphthalmia in 1 eye, severe anterior segment dysgenesis in 1 eye, and bilateral iridocorneal adhesions in 1 patient. Binenbaum et al. (2008) suggested that a genetic locus at chromosome 22q11.2 may be involved in anterior segment embryogenesis, and that sclerocornea should be added to the clinical manifestations of the 22q11.2 deletion syndrome. </p><p>Cheung et al. (2014) used a logistic regression model to investigate potential predictors of intellectual disability severity, including neonatal hypocalcemia, neonatal seizures, and complex congenital heart disease in 149 adults with 22q11.2 deletion syndrome, 10 of whom had moderate to severe intellectual disability. The model was highly significant (p less than 0.0001), showing neonatal seizures (p = 0.0018) and neonatal hypocalcemia (p = 0.047) to be significant predictors of a more severe level of intellectual disability. Neonatal seizures were significantly associated with hypocalcemia in the entire sample, regardless of intellectual level. </p>
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<strong>Biochemical Features</strong>
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<p>Hypocalcemia secondary to hypoparathyroidism is the key biochemical feature and may be sufficiently severe to be symptomatic. Resolution in early childhood is typical, although the deficient function of the parathyroids may be exposed in adulthood by infusion of disodium edetate (EDTA) (Gidding et al., 1988). </p><p>The patient of Gidding et al. (1988) had isolated conotruncal cardiac defect and, despite normal baseline ionized calcium and midmolecule parathyroid hormone levels, she failed to increase the secretion of midmolecular parathyroid hormone appropriately in response to a hypocalcemic challenge. They speculated that this combination of latent-hypoparathyroidism (LHP) and conotruncal cardiac defects should be included in the clinical spectrum of DiGeorge anomaly. Indeed, this woman's fourth child died with DiGeorge anomaly. Seven years after the report by Gidding et al. (1988), Cuneo et al. (1997) restudied the index patient with LHP and evaluated 3 generations of her family for parathyroid dysfunction, cardiac anomalies, and del22q11. Deletions were found in 6 relatives, 3 with conotruncal cardiac defects and 3 with a structurally normal heart. They found significant transgenerational noncardiac phenotypic variability, including learning difficulties, dysmorphic facial appearance, and psychiatric illness. A spectrum of parathyroid gland dysfunction associated with the del22(q11) was seen, ranging from hypocalcemic hypoparathyroidism to normocalcemia with abnormally low basal intact parathyroid hormone levels. In addition, LPH found in the index patient 7 years previously had evolved to frank hypocalcemic hypoparathyroidism. </p>
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<strong>Other Features</strong>
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<p>The deficit in thymic function results in a lack of T cells which may be demonstrated by measuring the proportion of CD4 cells (Wilson et al., 1993). Immunohistochemical analysis of the parathyroids reveals a deficit of thyrocalcitonin immunoreactive cells (C cells) (Palacios et al., 1993). </p><p>Levy et al. (1997) stated that 10 to 25% of parents of patients with DGS exhibit the 22q11 deletion but are nearly asymptomatic. The authors described 2 female patients carrying a 22q11 microdeletion who presented with idiopathic thrombocytopenic purpura. Both had children with typical manifestations of DGS. The possibility that defective thymic function predisposes patients with DGS to autoimmune diseases was raised. </p><p>Evers et al. (2006) reported a 52-year-old man with 22q11.2 deletion. As a child he showed learning disabilities and behavioral problems. As a young adult, he exhibited aggressive outbursts, apathy, echolalia, perseverations, and psychotic features, including delusional thoughts and hallucinations, necessitating long-term care in a psychiatric facility. Since then, he has demonstrated aggressive behavior, periods of withdrawal, and progressive cognitive decline consistent with dementia, particularly since the age of 36 years. An affected autistic sister also had the deletion. </p>
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<strong>Inheritance</strong>
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<p>DiGeorge syndrome is usually sporadic and results from de novo deletion within chromosome 22. A long series of reports has recognized the variable features resulting from this deletion in multiple family members with the variable phenotype behaving as an autosomal dominant trait (Steele et al., 1972; Raatikka et al., 1981; Atkin et al., 1982; Rohn et al., 1984; Keppen et al., 1988; Stevens et al., 1990). Stevens et al. (1990) suggested that such familial cases should be regarded as being velocardiofacial syndrome. The variable phenotype was described by Strong (1968) prior to the recognition of DGS. The mother in that family developed a psychotic illness. The first dominant pedigree in which marked clinical variability was associated with dominant transmission of a 22q11 deletion was reported by Wilson et al. (1991); the mother had the typical dysmorphic features. Of the 3 affected offspring, one had coarctation of the aorta, one a ventricular septal defect, and one DGS. Wilson et al. (1991) found 5 of 9 families ascertained on the basis of familial outflow tract defects to have 22q11 deletion. Subtle dysmorphic features typical of those seen in DGS were apparent in several of these affected family members. </p><p>Carelle-Calmels et al. (2009) noted that deletion of 22q11.2, resulting in DGS or VCFS, is usually sporadic but has been reported to be inherited in 6 to 28% of patients with these syndromes. They performed cytogenetic studies of the parents of a girl with DGS (or VCFS) who had a deletion of 22q11.2 and found an unexpected rearrangement of both 22q11.2 regions in the unaffected father. He carried a 22q11.2 deletion on one copy of chromosome 22 and a reciprocal 22q11.2 duplication (see 608363) on the other copy of chromosome 22. Genetic compensation, which is consistent with the normal phenotype of the father, was shown through quantitative-expression analyses of genes located within the genetic region associated with the 22q11 deletion syndrome. Carelle-Calmels et al. (2009) noted that this finding has implications for genetic counseling. </p><p>Delio et al. (2013) genotyped a total of 389 DNA samples from 22q11 deletion syndrome-affected families. A total of 219 (56%) individuals with 22q11 deletion had maternal origin and 170 (44%) had paternal origin of the de novo deletion, which represents a statistically significant bias for maternal origin (p = 0.0151). Combined with many smaller previous studies, 465 (57%) individuals had maternal origin and 345 (43%) had paternal origin, amounting to a ratio of 1.35 or a 35% increase in maternal compared to paternal origin (p = 0.000028). Among 1,892 probands with the de novo 22q11.2 deletion, the average maternal age at time of conception was 29.5, similar to data for the general population in 11 countries. Of interest, the female recombination rate in the 22q11.2 region was about 1.6 to 1.7 times greater than that for males, suggesting that for this region in the genome enhanced meiotic recombination rates, as well as other 22q11.2-specific features, could be responsible for the observed excess in maternal origin. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Cytogenetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>De la Chapelle et al. (1981) suggested that DiGeorge syndrome may be due to a deletion within chromosome 22 or partial duplication of 20p, based on finding the syndrome in members of a family with a 20;22 translocation. Specifically, they observed DGS in 4 members of 1 family and demonstrated monosomy of 22pter-q11 and 20p duplication. Their interpretation that DGS might result from monosomy for 22q11 was confirmed by Kelley et al. (1982) in 3 patients with translocation of 22q11-qter to other chromosomes. </p><p>Greenberg et al. (1984) observed partial monosomy due to an unbalanced 4;22 translocation in a 2-month-old male with type 1 truncus arteriosus and features of DGS. The asymptomatic mother showed partial T-cell deficiency and the same unbalanced translocation with deletion of proximal 22q11. </p><p>Augusseau et al. (1986) observed telecanthus, microretrognathia, severe aortic coarctation with hypoplastic left aortic arch, decreased E rosettes, and mild neonatal hypocalcemia. The same translocation was present in the clinically normal mother and maternal aunt. The latter had had her fourth pregnancy aborted because of cardiac and other malformations detected on ultrasound. This translocation has proved important in analysis of the expressed sequences in the deleted segment. </p><p>The recognition of the importance of 22q11 deletion grew with improving techniques. Greenberg et al. (1988) found chromosome abnormalities in 5 of 27 cases of DGS, 3 with 22q11 deletion though only one of these was an interstitial deletion. </p><p>Wilson et al. (1992) reported high resolution banding (more than 850 bands per haploid set) in 30 of 36 cases of DGS and demonstrated 9 cases of interstitial deletion. All other cases were apparently normal. Use of molecular dosage analysis and fluorescence in situ hybridization with probes isolated from within the deleted area revealed deletion in 21 of the 22 cases with normal karyotypes (Carey et al., 1992) giving pooled results of 33 deleted among the consecutive series of 35 cases. Driscoll et al. (1992) also found deletions at the molecular level in all 14 cases studied. </p><p>Whereas 90% of cases of DGS may now be attributed to a 22q11 deletion, other chromosome defects have been identified. In the report of Greenberg et al. (1988), there was 1 case of DGS with del10p13 and one with an 18q21.33 deletion. Fukushima et al. (1992) found a female infant with a deletion of 4q21.3-q25 associated with interrupted aortic arch, VSD, ASD, and PDA; T cell deficit and a small thymus at surgery; absent corpus callosum; and dysmorphic features. The possibility of an unrecognized submicroscopic deletion of 22q11 should be considered in such cases, although it is clear that the disturbance of neural crest migration presumed to underlie DGS may be caused by several distinct defects at the molecular level. </p><p>Pinto-Escalante et al. (1998) described a premature male infant with mosaic monosomy of chromosome 22. His facial appearance was similar to that in DiGeorge syndrome; hypertonicity, limitation of extension of major joints, and flexion contracture of all fingers were also present. They found previous reports of monosomy 22 in 6 cases, 3 of which were nonmosaic and 3 mosaic. There was great variability in anomalies in these patients; however, the most common anomalies were in the face and joints. </p><p>Gottlieb et al. (1998) determined the location and extent of the deletion on chromosome 10 in 5 DiGeorge syndrome patients by means of a combination of heterozygosity tests and fluorescence in situ hybridization analysis. The results did not support the existence of a single, commonly deleted region on 10p in these 5 patients. Rather, they suggested that deletion of more than 1 region on 10p could be associated with the DGS phenotype. Furthermore, there was no obvious correlation between the phenotypic traits of the patients and the extent of the deletion. The patient with the largest deletion exhibited one of the less severe phenotypes. The authors commented that the lack of a correlation between the size of a deletion and the phenotype is observed also with deletions on chromosome 22 and may be a characteristic of haploinsufficiency disorders. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>A large series of polymorphic markers and some expressed sequences have now been identified in the critical region (Fibison and Emanuel, 1987; Fibison et al., 1990; Scambler et al., 1990). The deletion lies proximal to the breakpoint critical region (151410). Details of the mapping of DGS to 22q11 are located in the Molecular Genetics and Cytogenetics sections of this entry. </p><p>Galili et al. (1997) documented homology of synteny between a 150-kb region on mouse chromosome 16 and the portion of 22q11.2 most commonly deleted in DiGeorge syndrome and VCFS. They identified 7 genes, all of which are transcribed in the early mouse embryo. </p><p>In 2 children with a DiGeorge syndrome phenotype from a consanguineous family, in whom deletion analysis at 22q11.2 and 10p14-p13 did not reveal any abnormality, Henwood et al. (2001) carried out microsatellite analysis. The affected children were homozygous at 3 markers within the 22q11.2 region, the markers being those at NLJH1, D22S941, and D22S944. The unaffected sib and the unaffected parents were heterozygous at these markers. A subsequent child who appeared to be unaffected was also found to be homozygous for the markers at these loci. Henwood et al. (2001), however, pointed out that nonpenetrance might be possible. </p>
</span>
<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Several expressed sequences have been identified in the region commonly deleted. Aubry et al. (1993) have identified a zinc finger gene ZNF74, and Halford et al. (1993) reported the expressed sequence T10. The gene TUPLE1 (TUP-like enhancer of split gene-1; 600237) reported by Halford et al. (1993) was an attractive candidate for the central features of the syndrome. This putative transcription factor shows homology to the yeast transcription factor TUP, and to Drosophila enhancer of split. It contains 4 WD40 domains and shows evidence of expression at the critical period of development in the outflow tract of the heart and the neural crest derived aspects of the face and upper thorax. The gene localizes to the critical DiGeorge region but was not disrupted by the translocation breakpoint described by Augusseau et al. (1986). </p><p>Augusseau et al. (1986) described a patient (ADU) with 'partial' DGS. She had telecanthus, microretrognathia, severe aortic coarctation with hypoplastic left aortic arch, decreased E rosettes, and mild neonatal hypocalcemia. The apparently balanced translocation involved chromosomes 2 and 22: t(2;22)(q14;q11). The same translocation was present in her mother (VDU). The original paper reported that VDU had no features of DGS. However, Budarf et al. (1995) observed that subsequent publications cited VDU as being mildly affected with hypernasal speech, micrognathia, and inverted T4/T8 ratio, which are all features seen in VCFS and DGS. The DGS phenotype in ADU, the VCFS phenotype in VDU, and a balanced translocation of chromosome 22 in both led Budarf et al. (1995) to clone the translocation, sequence the region containing the breakpoint, and analyze the DNA sequence for transcript identification. A gene disrupted by the rearrangement was identified. Their analysis suggested that there are at least 2 transcripts on opposite strands in the region of the t(2;22) breakpoint. The breakpoint disrupted a predicted ORF of one of these genes, deleting 11 nucleotides at the translocation junction. Additional fluorescence in situ hybridization studies and Southern blot analysis demonstrated that the deletions in chromosome 22 deletion-positive patients with DGS/VCFS include both of the transcripts at the t(2;22) breakpoint. Support that either of these putative genes is of significance in the etiology of DGS might come from determining whether all deleted patients are hemizygous for these loci and whether mutations in these genes are detectable in nondeletion patients with features of DGS. Lacking such evidence, the possibility remains that the translocation separates a locus control region from its target gene or produces a position effect. This has been suggested for the role of translocations seen in association with autosomal sex reversal and campomelic dysplasia (CMPD; 114290), where several disease-causing translocation breakpoints map 50 kb or more 5-prime of the SOX9 gene (608160). </p><p>Bartsch et al. (2003) used cytogenetic and analyses to study a series of 295 patients with suspected DiGeorge/velocardiofacial syndrome. They identified 58 subjects with a 22q11 deletion, and none with a 10p deletion. The common deletion was present in 52 subjects, the proximal deletion in 5, and an atypical proximal deletion due to a 1;22 translocation in 1. Bartsch et al. (2003) suggested that intellectual and/or behavioral outcome may be better with the proximal versus the common 22q11 deletion. </p><p>Demczuk et al. (1995) pointed to the existence of a strong tendency for 22q11.2 deletions in DGS, VCFS, and isolated conotruncal cardiac disease to be of maternal origin. With their experience of 22 cases in which parental origin could be determined, combined with recent results from the literature, 24 cases were found to be of maternal origin and 8 of paternal origin, yielding a probability of less than 0.01. </p><p>Demczuk et al. (1995) reported the isolation and cloning of a gene encoding a potential adhesion receptor protein (600594) in the DGCR. They designated the gene DGCR2 and suggested DGCR1 as a symbol for the TUPLE1 gene. </p><p>Pizzuti et al. (1996) described the cloning and tissue expression of a human homolog of the Drosophila 'dishevelled' gene (601225), a gene required for the establishment of fly embryonic segments. The 3-prime untranslated region of the gene was positioned within the DGS critical region and was found to be deleted in DGS patients. The authors stated that the gene may be involved in the pathogenesis of DGS. </p><p>Demczuk et al. (1996) described the cloning of a gene, which they referred to as DGCR6 (601279), from the DGS critical region. The putative protein encoded by this gene shows homology with Drosophila melanogaster gonadal protein (gdl) and with the gamma-1 chain of human laminin (150290), which maps to chromosome 1q31. </p><p>Edelmann et al. (1999) developed hamster-human somatic hybrid cell lines from VCFS/DGS patients and showed by use of haplotype analysis with a set of 16 ordered genetic markers on 22q11 that the breakpoints occurred within similar low copy repeats, designated LCR22s. Models were presented to explain how the LCR22s can mediate different homologous recombination events, thereby generating a number of rearrangements that are associated with congenital anomaly disorders. </p><p>Shaikh et al. (2000) completed sequencing of the 3-Mb typically deleted region (TDR) and identified 4 LCRs within it. Although the LCRs differed in content and organization of shared modules, those modules that were common between them shared 97 to 98% sequence identity with one another. Sequence analysis of rearranged junction fragments from variant deletions in 3 DGS/VCFS patients implicated the LCRs directly in the formation of 22q11.2 deletions. FISH analysis of nonhuman primates suggested that the duplication events which generated the nest of LCRs may have occurred at least 20 to 25 million years ago. </p><p>Stalmans et al. (2003) reported that absence of the 164-amino acid isoform of Vegf (Vegf164; see 192240), the only one that binds neuropilin-1 (602069), causes birth defects in mice reminiscent of those found in patients with deletion of 22q11. The close correlation of birth and vascular defects indicated that vascular dysgenesis may pathogenetically contribute to the birth defects. Vegf interacted with Tbx1, as Tbx1 expression was reduced in Vegf164-deficient embryos and knocked-down Vegf levels enhanced the pharyngeal arch artery defects induced by Tbx1 knockdown in zebrafish. Moreover, initial evidence suggested that a Vegf promoter haplotype was associated with an increased risk for cardiovascular birth defects in del22q11 individuals. Stalmans et al. (2003) concluded that genetic data in mouse, fish, and human indicated that VEGF is a modifier of cardiovascular birth defects in the del22q11 syndrome. </p><p>Baldini (2002) reviewed the molecular basis of DiGeorge syndrome, with special emphasis on mouse models and the role of TBX1 in development of the pharyngeal arches. </p><p>Yagi et al. (2003) screened for mutations in the coding sequence of TBX1 in 13 patients from 10 families who had the 22q11.2 syndrome phenotype but no detectable deletion in 22q11.2. They identified 3 mutations in TBX1 in 2 unrelated patients: 1 mutation was found in a case of sporadic conotruncal anomaly face syndrome/velocardiofacial syndrome and a second in a sporadic case of DiGeorge syndrome (602054.0002). A third mutation was found in 3 patients from a family with conotruncal anomaly face syndrome/velocardiofacial syndrome. The findings of Yagi et al. (2003) indicated that TBX1 mutations are responsible for 5 major phenotypes of the 22q11.2 syndrome, namely, abnormal facies (conotruncal anomaly face), cardiac defects, thymic hypoplasia, velopharyngeal insufficiency of the cleft palate, and parathyroid dysfunction with hypocalcemia; these mutations did not appear to be responsible for typical mental retardation that is commonly seen in patients with the deletion form of 22q11.2 syndrome. </p><p>Saitta et al. (2004) traced the grandparental origin of regions flanking de novo 3-Mb deletions in 20 informative 3-generation families with DiGeorge or velocardiofacial syndromes. Haplotype reconstruction of the flanking regions showed an unexpectedly high number of proximal interchromosomal exchanges between homologs, occurring in 19 of 20 families, whereas the normal chromosome 22 in these probands showed interchromosomal exchanges in 2 of 15 informative meioses, a rate consistent with the genetic distance. Immunostaining with MLH1 antibody showed meiotic exchanges localized to the distal region of chromosome 22q in 75% of human spermatocytes tested, also reflecting the genetic map. There was no effect of proband gender or parental age on crossover frequency, and parental origin studies in 65 de novo 3-Mb deletions demonstrated no bias. Unlike Williams syndrome (194050), FISH analysis showed no chromosomal inversions flanked by LCRs in 22 sets of parents of 22q11-deleted patients or in 8 nondeleted patients with a DGS/VCFS phenotype. Saitta et al. (2004) concluded that significant aberrant interchromosomal exchange events during meiosis I in the proximal region of the affected chromosome 22 are the likely etiology for these deletions. Since this type of exchange occurs more often for 22q11 deletions than for deletions of 7q11, 15q11, 17p11, and 17q11, they suggested that there is a difference in the meiotic behavior of chromosome 22. </p><p>Fernandez et al. (2005) found that 7 (13%) of 55 index patients with 22q11.2 deletion syndrome diagnosed by FISH analysis had inherited the deletion; 2 of the index patients were related as half sibs and had received the deletion from their shared mother. Using molecular techniques to characterize the size of the deletion, The authors found that 3 of 5 families had the smaller 1.5- to 2-Mb deletion and 2 families had the larger 3-Mb deletion; the size of the deletion in 1 family could not be determined. The findings suggested that small deletions may be more common in familial inheritance than larger deletions. Although the clinical severity did not differ between the 2 groups of patients, Fernandez et al. (2005) postulated that the smaller deletion may be associated with higher fecundity than the larger deletion. </p><p>Paylor et al. (2006) identified a heterozygous 23-bp deletion in the TBX1 gene (602054.0004) in a mother and 2 sons with VCFS. The mother also had major depression (608516) and 1 of the sons was diagnosed with Asperger syndrome (see, e.g., 608638 and 209850). Paylor et al. (2006) suggested that the TBX1 gene is a candidate for psychiatric disease in patients with VCFS and DiGeorge syndrome. </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 22q11.2 deletion was identified in 93 cases and no controls for a p value of 9.15 x 10(-21) and a frequency in cases of 1 of 169. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Patients with DiGeorge syndrome are hemizygous for the COMT gene (116790). In a study of 21 nonpsychotic DiGeorge syndrome patients aged 7 to 16 years, Shashi et al. (2006) found that those carrying the met allele of the COMT V158M polymorphism (116790.0001), which results in increased dopamine in the prefrontal cortex, performed better on tests of general cognitive ability and on a specific test of prefrontal cognition compared to those with the val allele. Glaser et al. (2006) tested measures of executive function, IQ, and memory in 34 children and young adults with the 22q11.2 deletion syndrome (14 hemizygous for val158 and 30 for met158). No significant differences were detected between met- and val-hemizygous participants on measures of executive function. The groups did not differ on full-scale, performance, and verbal IQ or on verbal and visual memory. Glaser et al. (2006) suggested that either the COMT polymorphism has a small effect on executive function in 22q11.2 deletion syndrome or no effect exists at all. </p><p>Lopez-Rivera et al. (2017) conducted a genomewide search for structural variants in 2 cohorts: 2,080 patients with congenital kidney and urinary tract anomalies and 22,094 controls. Exome and targeted resequencing was performed in samples obtained from 586 additional patients with congenital kidney anomalies. Functional studies were also performed in zebrafish and mice. Lopez-Rivera et al. (2017) identified heterozygous deletion of chromosome 22q11.2 in 1% of patients with congenital kidney anomalies and in 0.01% of population controls (OR = 81.5, p = 4.5 x 10(-14)). The main driver of renal disease in DiGeorge syndrome was a 370-kb region containing 9 genes. In zebrafish embryos, an induced loss of function in snap29 (604202), aifm3 (617298), and crkl (602007) resulted in renal defects; the loss of crkl alone was sufficient to induce defects. Five of 586 patients with congenital urinary anomalies had newly identified heterozygous protein-altering variants, including a premature termination codon, in CRKL. The inactivation of Crkl in the mouse model induced developmental defects similar to those observed in patients with congenital urinary anomalies. Lopez-Rivera et al. (2017) concluded that a recurrent 370-kb deletion in the 22q11.2 locus is the driver of kidney defects in DiGeorge syndrome and in sporadic congenital kidney and urinary tract anomalies. Of the 9 genes at this locus, SNAP29, AIFM3, and CRKL appear to be critical to the phenotype, with haploinsufficiency of CRKL emerging as the main genetic driver. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Heterogeneity</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The association of the DiGeorge syndrome with at least 2 and possibly more chromosomal locations suggests strongly that several genes are involved in control of migration of neural crest cells and their subsequent fixation and differentiation at different sites. In the mouse, Chisaka and Capecchi (1991) described a knockout of Hox A3(1.5) which produced a recessive phenocopy of DGS. This gene maps to human chromosome 7, an area not yet implicated in the cause of the human syndrome. </p><p>One explanation for the wide variation in phenotype would be the need for more than 1 gene defect to produce the severe version. Thus, for example, impaired signal and receptor may be needed to produce the full phenotype. Environmental factors could also play an additive role. Features of DGS have been described in children with clinical evidence of fetal alcohol syndrome. Ammann et al. (1982) found 4 children among a referral population with immunodeficiency who had hypocalcemia with decreased levels of parathormone, and T cell rosette formation of between 9 and 50% (normal over 65%). All 4 had cardiovascular lesions compatible with DGS; VSD with right aortic arch, truncus arteriosus and pulmonary stenosis, aberrant subclavian artery and pulmonary valve stenosis respectively. Two of the children had absent thymus at direct examination. The alcohol may have directly disrupted neural crest migration or have exposed a genetic predisposition. Among a series of pregnancies exposed to the teratogen isotretinoin (vitamin A) reported by Lammer et al. (1985) 21 malformed infants were investigated; 8 had conotruncal defects or aortic arch anomalies, 6 had micrognathia, 3 had cleft palate and 7 had thymic defects. Several of these children would satisfy the diagnostic criteria of DGS. Again, it is likely that this environmental challenge is exposing the same susceptible pathways of development as are impaired by the 22q11 deletion though the possibility of an interaction between the insult and genotype remains open. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Diagnosis</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The dysmorphic facial appearance in an individual with a major outflow tract defect of the heart or a history of recurrent infection should raise suspicion. In infancy, hypocalcemia is a characteristic feature although this may be intermittent and has a tendency to resolve during the first year. Immunological assessment relies on chest radiography to detect a thymic shadow, a notoriously unreliable investigation, particularly in the stressed infant, and measurement of the CD4-positive subset of white cells. With the rapid progress in molecular cytogenetics, the investigation of choice is now a standard karyotype to exclude major rearrangements and fluorescence in situ hybridization using probes from within the deletion segment, preferably those close to the translocation breakpoint site. Where cell suspension or fresh blood cannot be obtained for karyotype, allele loss may be sought with a series of the hypervariable probes in the region. Parents should be screened for carrier status.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Management</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Calcium supplements and 1,25-cholecalciferol may be needed to treat hypocalcemia. Thymic transplantation has been employed though this is difficult to assess since children tend to improve with age. Any affected child undergoing major surgery should have a supply of irradiated blood to avoid graft-versus-host disease (GVHD; see 614395) until immunocompetence has been demonstrated. Clefts may be submucous and should be sought. Speech therapy and additional educational assistance may be needed. Cardiac defects are the usual focus of clinical management. Early echocardiography is essential in any child where other features suggest the diagnosis.</p><p>Markert et al. (1999) treated 5 infants with the complete DiGeorge syndrome by transplantation of allogeneic, postnatal thymus tissue. All of them had severely reduced T-cell function. Their peripheral blood mononuclear cells did not respond to mitogens. After transplantation of thymus tissue, T-cell proliferative responses to mitogens developed in 4 patients. No graft-vs-host disease or graft rejection was detected, even in a case with full haplotype mismatch. Two of the patients survived with restoration of immune function, 11 months and 5.5 years after transplantation, respectively; 3 patients died from infection or abnormalities unrelated to transplantation. The authors concluded that early thymus transplantation (before the development of infectious complications) may promote successful immune reconstitution in the complete DiGeorge syndrome. </p><p>See Oskarsdottir et al. (2023) and Boot et al. (2023) for clinical practice recommendations for managing children and adults with 22q11.2 deletion syndrome, respectively. </p>
</span>
<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Pathogenesis</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>By analyzing head profile radiographs, Molsted et al. (2010) found an increased frequency of abnormalities in the morphology of the sella turcica in 33 patients with chromosome 22q11.2 deletion syndrome, including 30 with either velopharyngeal insufficiency or palatal abnormalities, compared controls. Patients showed deviations mostly in the posterior part of the dorsum sellae, and patients had increased cranial base angles compared to controls. Molsted et al. (2010) noted that abnormal morphology of the cranial base and the sella turcica should be considered a cranial malformation. Taking into account that the main features of the disorder are palatal abnormalities, thymic hypoplasia, hypothyroidism, and cardiac defects, the findings of Molsted et al. (2010) suggested a defect in the neural crest developmental field that includes the thyroid, thymus, and conotruncal septum of the heart. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>A preliminary population study in the Northern region of England, which has a birth population of 40,000 per annum, revealed 9 cases born in 1993 with 22q11 deletions who presented with neonatal features. One of these was familial with an asymptomatic carrier father. The overall birth prevalence appeared to be at least 1 in 4,000 (Burn et al., 1995). Goodship et al. (1998) presented prospective prevalence data derived from the same health region. Since approximately 75% of patients with 22q11 deletion have a cardiac abnormality, all infants with significant congenital heart disease born in 1994 and 1995 who were referred to the Northern (United Kingdom) Genetics Service were screened for 22q11 deletion. Significant congenital heart disease was defined as major structural malformation or disease requiring early invasive investigation or intervention. Additional cases born during this period without apparent heart malformation in whom a diagnosis of 22q11 deletion was made by a clinical geneticist were included. Among 69,129 live births there were 207 babies with significant congenital heart disease; fluorescence in situ hybridization analyses were performed in 170 of these. Five of these had 22q11 deletions. One baby with type B interruption of the aortic arch, ventricular septal defect, and 22q11 deletion was diagnosed at autopsy following sudden death at 11 days. Three further infants were diagnosed on the basis of a laryngeal web and hypocalcemia, dysmorphism, and dysmorphism with nasal voice, respectively. The minimum birth prevalence from these data was 13 per 100,000 live births, making 22q11 deletion the second most common cause of congenital heart disease after Down syndrome. </p><p>Botto et al. (2003) identified 43 children with laboratory-confirmed 22q11.2 deletion among infants born in Atlanta, Georgia from 1994 to 1999. The overall prevalence was 1 in 5,950 births, with a prevalence of 1 in 6,000 to 1 in 6,5000 among whites, blacks, and Asians, and 1 in 3,800 among Hispanics. Most affected children (81%) had a heart defect, most commonly a conotruncal defect. Other common features included absent thymus (28%), central nervous system anomalies (12%), and renal anomalies (12%). Botto et al. (2003) estimated that at least 700 infants with 22q11.2 deletion syndrome are born annually in the United States. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Lindsay et al. (1999) created an animal model for the DiGeorge syndrome using Cre-loxP chromosome engineering to delete a portion of mouse chromosome 16B that is homologous to human chromosome 22q11. At birth, heterozygous deleted mice were recovered at the predicted mendelian ratio, but no homozygous deleted mice were recovered. Deleted mice that survived on the first day of life were viable and fertile and grew normally. Forty-two deleted embryos were examined at 18.5 days postcoitum; 26% of them had cardiovascular abnormalities. The most common abnormality (found in 6 embryos) was retroesophageal right subclavian artery, which originated from the descending aorta, dorsal to the emergence of the left subclavian artery. In examining 56 adult deleted mice, they found that 18% had cardiovascular abnormalities. Lindsay et al. (1999) traced the embryologic origin of these abnormalities to defective development of the fourth pharyngeal arch arteries. Unlike patients with DiGeorge syndrome, deleted mice had normal levels of calcium, phosphorus, and parathyroid hormone, and normal percentages of B and T cells. The thymus was normal in size. In addition, no deleted mice had cleft palate or gross palatal abnormalities. Lindsay et al. (1999) genetically complemented the deletion using a chromosome carrying a duplication of the deleted region. Genetic complementation corrected the heart defects, indicating that they are caused by reduced dosage of genes located within the deleted region. </p><p>Puech et al. (2000) used Cre-mediated recombination of LoxP sites in embryonic stem cells and mice to generate a 550-kb deletion encompassing 16 of the 27 genes that had been found in a 1.5-Mb region of 22q11 in the corresponding region of mouse chromosome 16. Mice heterozygous for this deletion were normal and exhibited no cardiovascular abnormalities. </p><p>Lindsay et al. (2001) used a combination of chromosome engineering and P1 artificial chromosome transgenesis to localize the gene in mouse chromosome 16 haploinsufficiency for which causes the cardiovascular phenotype described by Lindsay et al. (1999). Lindsay et al. (2001) showed that Tbx1 (602054), a member of the T-box transcription factor family, is required for normal development of the pharyngeal arch arteries in a gene dosage-dependent manner. Deletion of 1 copy of Tbx1 affects the development of the fourth pharyngeal arch arteries, whereas homozygous mutation severely disrupts the entire pharyngeal arch artery system. Lindsay et al. (2001) concluded that haploinsufficiency of Tbx1 is sufficient to generate at least 1 important component of the DiGeorge syndrome phenotype in mice. Their data demonstrated the suitability of the mouse for the genetic dissection of microdeletion syndromes. </p><p>Jerome and Papaioannou (2001) investigated the potential role of the Tbx1 gene in the causation of the DiGeorge syndrome phenotype. This gene, which encodes a transcription factor of the T-box family, maps to 22q11. They produced a null mutation of the Tbx1 gene in mice and found that mice heterozygous for the mutation had a high incidence of cardiac outflow tract anomalies, thus modeling one of the major abnormalities of the human syndrome. Moreover, Tbx1 -/- mice displayed a wide range of developmental anomalies encompassing almost all of the common DGS/VCFS features, including hypoplasia of the thymus and parathyroid glands, cardiac outflow tract abnormalities, abnormal facial structures, abnormal vertebrae, and cleft palate. On the basis of this phenotype in mice, Jerome and Papaioannou (2001) proposed that TBX1 in humans is an etiology of DGS/VCFS. </p><p>To investigate the etiology of VCFS/DGS, Merscher et al. (2001) used a Cre-loxP strategy to generate mice that were hemizygous for a 1.5-Mb deletion corresponding to that on 22q11 in VCFS/DGS patients. These mice exhibited significant perinatal lethality and had conotruncal and parathyroid defects. The conotruncal defects could be partially rescued by a human BAC containing the TBX1 gene. Mice heterozygous for a null mutation in Tbx1 developed conotruncal defects. These results together with the expression patterns of TBX1 suggested a major role for the TBX1 gene in the molecular etiology of VCFS/DGS. </p><p>Funke et al. (2001) reported that mice overexpressing 4 transgenes (PNUTL1, 602724; GP1BB, 138720; TBX1, 602054; and WDR14, 610778) had chronic otitis media, a hyperactive circling behavior, and sensorineural hearing loss. This was associated with middle and inner ear malformations analogous to human Mondini dysplasia, reported to occur in VCFS/DGS patients. Based upon its pattern of expression in the ear and functional studies of the gene, the authors hypothesized that Tbx1 likely plays a central role in the etiology of ear defects in these mice, and that haploinsufficiency of TBX1 may be responsible for ear disorders in VCFS/DGS patients. </p><p>The CRKL gene (602007) encodes an SH2-SH3-SH3 adaptor protein closely related to the Crk (164762) gene products. CRKL maps within the common deletion region for DGS/VCFS. Guris et al. (2001) reported that mice homozygous for a targeted null mutation at the Crkl locus exhibited defects in multiple cranial and cardiac neural crest derivatives including the cranial ganglia, aortic arch arteries, cardiac outflow tract, thymus, parathyroid glands, and craniofacial structures. They showed that the migration and early expansion of the neural crest cells is unaffected in Crkl -/- embryos. Guris et al. (2001) concluded that the similarity between the Crkl -/- phenotype and the clinical manifestations of DGS/VCFS implicate defects in CRKL-mediated signaling pathways as part of the molecular mechanism underlying this syndrome. </p><p>Schinke and Izumo (2001) reviewed the genetic structure of the 22q11 region associated with DGS and the syntenic region of mouse chromosome 16. The gene order is inverted between human and mouse in a segment of this region. A table accompanying the figure summarized the phenotypes of mice homozygous or heterozygous mutant for chromosomal deletions or gene mutations of specific regions. </p><p>Lindsay and Baldini (2001) showed that in their mouse deletion model Df1, the aortic arch patterning defects that occur in heterozygous deletion mice (Df1/+) are associated with a differentiation impairment of vascular smooth muscle in the 4th pharyngeal arch arteries (PAAs) during early embryogenesis. As in humans, not all deletion mice presented with cardiovascular defects at birth. However, all Df1/+ embryos have abnormally small 4th PAAs during early embryogenesis, but many embryos later overcome this early defect, coincident with the appearance of vascular smooth muscle differentiation. The authors speculated that embryos born with aortic arch patterning defects probably represent a more severely affected group that fails to attain sufficient 4th PAA growth for normal remodeling of the PAA system. </p><p>Paylor et al. (2001) showed that Df1/+ mice have deficits in learning, memory, and sensorimotor gating, as measured by prepulse inhibition (PPI) of the startle response. The finding of sensorimotor gating deficits is particularly significant because DGS patients with schizophrenia and schizotypal personality disorder show similar deficits. By detailed mapping of Df1/+ mice, Paylor et al. (2006) found that the PPI deficit was due to haploinsufficiency of 2 adjacent genes, Tbx1 and Gnb1l. Mutation in either gene was sufficient to cause reduced PPI. Paylor et al. (2006) suggested that the Tbx1 gene may be a candidate for psychiatric disease in patients with DGS. </p><p>Vermot et al. (2003) generated mice bearing a hypomorphic allele of the gene encoding the retinoic acid-synthesizing enzyme RALDH2 (603687). The resulting mutant mice, which died perinatally, exhibited features of DiGeorge syndrome with heart outflow tract septation defects and anomalies of the aortic arch-derived head and neck arteries, laryngeal-tracheal cartilage defects, and thyroid/parathyroid aplasia or hypoplasia. Analysis of the Raldh2 hypomorph embryos showed selective defects of the posterior (third to sixth) branchial arches, including absence or hypoplasia of the corresponding aortic arches and pharyngeal pouches, and local downregulation of retinoic acid-target genes. Thus, a decreased level of embryonic retinoic acid (through genetic and/or nutritional causes) could represent a major modifier of the expressivity of human 22q11del-associated DiGeorge/velocardiofacial syndromes and, if severe enough, could on its own lead to the clinical features of the DiGeorge syndrome. </p><p>Liao et al. (2004) reported that mice hemizygous for a null allele of Tbx1 had mild malformations, while homozygotes had severe malformations in the affected structures. Neither pattern of malformation precisely modeled VCFS or DGS. Furthermore, bacterial artificial chromosome (BAC) transgenic mice overexpressing human TBX1 and 3 other transgenes had similar malformations to VCFS/DGS patients. By employing genetic complementation studies, the authors demonstrated that altered TBX1 dosage, rather than overexpression of the other transgenes, was responsible for most of the defects in the BAC transgenic mice. Furthermore, the full spectrum of VCFS/DGS malformations was elicited in a TBX1 dose-dependent manner, thus providing a molecular basis for the pathogenesis and varied expressivity of the syndrome. </p><p>Long et al. (2006) found that mice hemizygous for a 1.5-Mb deletion on chromosome 16 (Lgdel/+) genes showed impairments in grip strength and nociception compared to wildtype mice. Lgdel/+ mice also showed impairment in prepulse inhibition (PPI) on sensorimotor gating testing, suggestive of neuropsychiatric impairment. Mice heterozygous for a mutation in the Tbx1 gene showed mildly impaired grip strength and decreased movement initiation. Mice with complete loss of the Gscl gene (601845) showed no behavioral changes on any of the tests. </p><p>Individuals with 22q11.2 microdeletions show behavioral and cognitive deficits and are at high risk of developing schizophrenia. Stark et al. (2008) engineered a mouse strain carrying a hemizygous 1.3-Mb chromosomal deficiency spanning a segment syntenic to the human 22q11.2 locus. The hemizygous microdeletion, called Df(16)A(+/-), encompassed 27 genes and represented most of the functional genes in the human segment. Behaviorally, Df(16)A(+/-) mice were hyperactive compared to wildtype littermates and showed deficits in the PPI task. Males, but not females, appeared fearful of exploring their environment. Stark et al. (2008) found that Df(16)A(+/-) mice had abnormal brain microarchitecture, although no gross brain abnormalities were present. In the hippocampus, Df(16)A(+/-) mice had reduced number and size of dendritic spines and decreased dendritic complexity of CA1 pyramidal neurons. Analysis of heterozygous Dgcr8 (609030)-deficient mice revealed that altered miRNA biogenesis, dendritic complexity, and PPI performance in Df(16)A(+/-) mice was due to Dgcr8 haploinsufficiency. Stark et al. (2008) concluded that abnormal miRNA processing contributes to the behavioral and neuronal deficits associated with the human 22q11.2 deletion. </p><p>Choi and Klingensmith (2009) demonstrated that chordin (CHRD; 603475) is a modifier of the craniofacial anomalies observed in Tbx1 mutations in mice. The Chrd-null mouse phenotype includes dysmorphic ears, absence of the thymus, persistent truncus arteriosus, and cleft palate, which is similar to the phenotype of Tbx1-null mice. However, penetrance of the Chrd phenotype is highly dependent on genetic background. In an inbred Chrd-null mouse strain with full penetrance, the authors found that a splice site mutation in the Tbx1 gene was a modifier influencing phenotypic expression. Chrd-null mice without the Tbx1 mutation had a low penetrance of mandibular hypoplasia, but no cardiac or thoracic organ malformations. The hypomorphic Tbx1 allele resulted in defects resembling 22q11 deletion syndrome, but with a low penetrance of craniofacial malformations, unless Chrd was also mutant. Expression studies suggested that Chrd has a role in promoting Tbx1 expression. The findings suggested that chordin is a modifier of the craniofacial anomalies of Tbx1 mutations, demonstrating the existence of a second-site modifier for a specific subset of the phenotypes associated with 22q11 deletion syndrome. </p><p>In a mouse model of chromosome 22q11 deletion syndrome, Meechan et al. (2009) demonstrated that decreased dosage of genes in this region was associated with compromised neurogenesis and differentiation in the cerebral cortex. There was a specific disruption of proliferation of basal progenitor cells in the subventricular zone and medial cortical regions. Apical progenitors and radial migration were not affected. Microarray analysis showed decreased expression of genes involved in cell-cycle function in the 22q11 region, including Ranbp1 (601180) and Cdc45l (603465), as well as those outside of the 22q11 region (e.g., cyclin D1, 168461; E2f2, 600426; and Sesn2, 607767). There was a decrease in number of projection neurons in cortical layer 2-4, but not layer 5/6, and this change was associated with aberrant distribution of interneurons in upper and lower cortical layers. Deletion of the Tbx1 (602054) or Prodh (606810) genes did not disrupt basal progenitors. The findings provided evidence that diminished dosage of certain genes within the chromosome 22q11 region disrupts cortical neurogenesis and interneuron migration, which likely changes cortical circuitry, leading to cognitive deficits. </p><p>Sigurdsson et al. (2010) studied Df(16)A(+/-) mice, which model a microdeletion on human chromosome 22q11.2 that constitutes one of the largest known genetic risk factors for schizophrenia. To examine functional connectivity in these mice, Sigurdsson et al. (2010) measured the synchronization of neural activity between the hippocampus and the prefrontal cortex during the performance of a task requiring working memory, which is one of the cognitive functions disrupted in the disease. In wildtype mice, hippocampal-prefrontal synchrony increased during working memory performance, consistent with previous reports in rats. Df(16)A(+/-) mice, which are impaired in the acquisition of the task, showed drastically reduced synchrony, measured both by phase-locking of prefrontal cells to hippocampal theta oscillations and by coherence of prefrontal and hippocampal local field potentials. Furthermore, the magnitude of hippocampal-prefrontal coherence at the onset of training could be used to predict the time it took the Df(16)A(+/-) mice to learn the task and increased more slowly during task acquisition. Sigurdsson et al. (2010) concluded that their data suggested how the deficits in functional connectivity observed in patients with schizophrenia may be realized at the single-neuron level, and further suggested that impaired long-range synchrony of neural activity is one consequence of the 22q11.2 deletion and may be a fundamental component of the pathophysiology underlying schizophrenia. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The original description of the syndrome was derived from a published discussion at an immunology meeting (Cooper et al., 1965). DiGeorge (1968) published a formal report 3 years later. The report by Strong (1968) predated this formal report and probably represents the same variable disorder. Kimura (1977) reported velopharyngeal deficiency in a series of patients without cleft palate. The Japanese language report by Kinouchi et al. (1976) and the English reports, by Takao et al. (1980)and Shimizu et al. (1984), delineated the syndrome in the Japanese population. The acronym CATCH22 derives from the phrase Catch 22, which was used by Joseph Heller as the title of his book (Heller, 1962). </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Asamoto and Furuta (1977); Burn et al. (1995); De Silva et al.
(1995); Gripp et al. (1997); Lai et al. (1992); Monaco et al. (1991);
Novak and Robinson (1994); Radford et al. (1988); Ryan et al. (1997);
Sato et al. (1999); Tewfik et al. (1977)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
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<div>
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Paylor, R., McIlwain, K. L., McAninch, R., Nellis, A., Yuva-Paylor, L. A., Baldini, A., Lindsay, E. A.
<strong>Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments.</strong>
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[PubMed: 11726551]
[Full Text: https://doi.org/10.1093/hmg/10.23.2645]
</p>
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Pinto-Escalante, D., Ceballos-Quintal, J. M., Castillo-Zapata, I., Canto-Herrera, J.
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Pizzuti, A., Novelli, G., Mari, A., Ratti, A., Colosimo, A., Amati, F., Penso, D., Sangiuolo, F., Calabrese, G., Palka, G., Silani, V., Gennarelli, M., Mingarelli, R., Scarlato, G., Scambler, P., Dallapiccola, B.
<strong>Human homologue sequences to the Drosophila dishevelled (sic) segment-polarity gene are deleted in the DiGeorge syndrome.</strong>
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Puech, A., Saint-Jore, B., Merscher, S., Russell, R. G., Cherif, D., Sirotkin, H., Xu, H., Factor, S., Kucherlapati, R., Skoultchi, A. I.
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Pediatrics 67: 173-175, 1981.
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<strong>Spectrum of DiGeorge syndrome in patients with truncus arteriosus: Expanded DiGeorge syndrome.</strong>
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<strong>Familial third-fourth pharyngeal pouch syndrome with apparent autosomal dominant transmission.</strong>
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Ryan, A. K., Goodship, J. A., Wilson, D. I., Philip, N., Levy, A., Seidel, H., Schuffenhauer, S., Oechsler, H., Belohradsky, B., Prieur, M., Aurias, A., Raymond, F. L., and 17 others.
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Saitta, S. C., Harris, S. E., Gaeth, A. P., Driscoll, D. A., McDonald-McGinn, D. M., Maisenbacher, M. K., Yersak, J. M., Chakraborty, P. K., Hacker, A. M., Zackai, E. H., Ashley, T., Emanuel, B. S.
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<strong>B-cell lymphoma associated with DiGeorge syndrome. (Letter)</strong>
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<strong>Molecular detection of 22q11 deletions in patients with DiGeorge syndrome and normal karyotype. (Abstract)</strong>
Am. J. Hum. Genet. 47 (suppl.): A235, 1990.
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Scheuerle, A.
<strong>Teenager with uterine didelphys, absent kidney and 22q11.2 deletion. (Letter)</strong>
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<strong>Deconstructing DiGeorge syndrome.</strong>
Nature Genet. 27: 238-240, 2001.
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Shashi, V., Keshavan, M. S., Howard, T. D., Berry, M. N., Basehore, M. J., Lewandowski, E., Kwapil, T. R.
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Shimizu, T., Takao, A., Ando, M., Hirayama, A.
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<strong>Velocardiofacial syndrome and DiGeorge sequence. (Letter)</strong>
J. Med. Genet. 31: 423-424, 1994.
[PubMed: 8064827]
[Full Text: https://doi.org/10.1136/jmg.31.5.423-b]
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Sigurdsson, T., Stark, K. L., Karayiorgou, M., Gogos, J. A., Gordon, J. A.
<strong>Impaired hippocampal-prefrontal synchrony in a genetic mouse model of schizophrenia.</strong>
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<strong>VEGF: a modifier of the del22q11 (DiGeorge) syndrome?</strong>
Nature Med. 9: 173-182, 2003.
[PubMed: 12539040]
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<strong>Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model.</strong>
Nature Genet. 40: 751-760, 2008.
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<strong>Familial thymic aplasia: attempted reconstitution with fetal thymus in a millipore diffusion chamber.</strong>
New Eng. J. Med. 287: 787-791, 1972.
[PubMed: 5057550]
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Stevens, C. A., Carey, J. C., Shigeoka, A. O.
<strong>DiGeorge anomaly and velocardiofacial syndrome.</strong>
Pediatrics 85: 526-530, 1990.
[PubMed: 2314965]
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<p class="mim-text-font">
Strong, W. B.
<strong>Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism.</strong>
J. Pediat. 73: 882-888, 1968.
[PubMed: 5696314]
[Full Text: https://doi.org/10.1016/s0022-3476(68)80241-0]
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<strong>Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome.</strong>
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Takao, A., Ando, M., Cho, K., Kinouchi, A., Murakami, Y.
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<p class="mim-text-font">
Tewfik, H. H., Ptacek, J. J., Krause, C. J., Latourette, H. B.
<strong>DiGeorge syndrome associated with multiple squamous cell carcinomas.</strong>
Arch. Otolaryng. 103: 105-107, 1977.
[PubMed: 836226]
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Toriello, H. V., Sharda, J. K., Beaumont, E. J.
<strong>Autosomal recessive syndrome of sacral and conotruncal developmental field defects (Kousseff syndrome).</strong>
Am. J. Med. Genet. 22: 357-360, 1985.
[PubMed: 4050868]
[Full Text: https://doi.org/10.1002/ajmg.1320220220]
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Vermot, J., Niederreither, K., Garnier, J.-M., Chambon, P., Dolle, P.
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Wilson, D. I., Burn, J., Scambler, P., Goodship, J.
<strong>DiGeorge syndrome, part of CATCH 22.</strong>
J. Med. Genet. 30: 852-856, 1993.
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[Full Text: https://doi.org/10.1136/jmg.30.10.852]
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<p class="mim-text-font">
Wilson, D. I., Cross, I. E., Goodship, J. A., Brown, J., Scambler, P. J., Bain, H. H., Taylor, J. F. N., Walsh, K., Bankier, A., Burn, J., Wolstenholme, J.
<strong>A prospective cytogenetic study of 36 cases of DiGeorge syndrome.</strong>
Am. J. Hum. Genet. 51: 957-963, 1992.
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<p class="mim-text-font">
Wilson, D. I., Cross, I. E., Goodship, J. A., Coulthard, S., Carey, A. H., Scambler, P. J., Bain, H. H., Hunter, A. S., Carter, P. E., Burn, J.
<strong>DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin.</strong>
Brit. Heart J. 66: 308-312, 1991.
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<strong>Deletions within chromosome 22q11 in familial congenital heart disease.</strong>
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[PubMed: 1355155]
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Yagi, H., Furutani, Y., Hamada, H., Sasaki, T., Asakawa, S., Minoshima, S., Ichida, F., Joo, K., Kimura, M., Imamura, S., Kamatani, N., Momma, K., Takao, A., Nakazawa, M., Shimizu, N., Matsuoka, R.
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Contributors:
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<span class="mim-text-font">
Carol A. Bocchini - updated : 11/19/2024<br>Ada Hamosh - updated : 05/03/2019<br>Ada Hamosh - updated : 1/31/2014<br>Ada Hamosh - updated : 10/14/2013<br>Ada Hamosh - updated : 10/4/2012<br>Cassandra L. Kniffin - updated : 12/27/2010<br>Cassandra L. Kniffin - updated : 11/29/2010<br>Ada Hamosh - updated : 4/28/2010<br>Ada Hamosh - updated : 7/28/2009<br>Cassandra L. Kniffin - updated : 6/5/2009<br>Marla J. F. O&#x27;Neill - updated : 10/27/2008<br>Patricia A. Hartz - updated : 7/16/2008<br>Cassandra L. Kniffin - updated : 3/19/2008<br>Kelly A. Przylepa - updated : 10/25/2007<br>Jane Kelly - updated : 9/25/2007<br>Cassandra L. Kniffin - updated : 4/25/2007<br>Cassandra L. Kniffin - updated : 3/13/2007<br>Marla J. F. O&#x27;Neill - updated : 2/5/2007<br>George E. Tiller - updated : 1/16/2007<br>Cassandra L. Kniffin - updated : 12/6/2006<br>George E. Tiller - updated : 12/4/2006<br>Cassandra L. Kniffin - updated : 8/18/2006<br>Marla J. F. O&#x27;Neill - updated : 7/26/2006<br>Cassandra L. Kniffin - updated : 6/1/2006<br>John Logan Black, III - updated : 5/23/2006<br>Cassandra L. Kniffin - updated : 4/27/2006<br>John A. Phillips, III - updated : 4/5/2006<br>Cassandra L. Kniffin - updated : 3/9/2006<br>Cassandra L. Kniffin - updated : 10/31/2005<br>Victor A. McKusick - updated : 12/23/2003<br>George E. Tiller - updated : 12/2/2003<br>Deborah L. Stone - updated : 5/29/2003<br>Victor A. McKusick - updated : 3/27/2003<br>Victor A. McKusick - updated : 3/6/2003<br>Ada Hamosh - updated : 2/27/2003<br>Michael J. Wright - updated : 7/29/2002<br>George E. Tiller - updated : 5/21/2002<br>George E. Tiller - updated : 5/9/2002<br>Ada Hamosh - updated : 1/29/2002<br>George E. Tiller - updated : 10/2/2001<br>Ada Hamosh - updated : 3/7/2001<br>Stylianos E. Antonarakis - updated : 3/6/2001<br>Victor A. McKusick - updated : 2/22/2001<br>Victor A. McKusick - updated : 10/11/2000<br>George E. Tiller - updated : 4/14/2000<br>Armand Bottani - updated : 3/15/2000<br>Michael J. Wright - updated : 1/6/2000<br>Wilson H. Y. Lo - updated : 11/22/1999<br>Ada Hamosh - updated : 10/7/1999<br>Armand Bottani - updated : 9/23/1999<br>Wilson H. Y. Lo - updated : 9/22/1999<br>Wilson H. Y. Lo - updated : 8/12/1999<br>Wilson H. Y. Lo - updated : 8/12/1999<br>Paul Brennan - updated : 2/18/1999<br>Michael J. Wright - updated : 6/5/1998<br>Victor A. McKusick - updated : 4/14/1998<br>Victor A. McKusick - updated : 3/27/1998<br>Victor A. McKusick - updated : 5/27/1997<br>Victor A. McKusick - updated : 5/16/1997<br>Victor A. McKusick - updated : 4/7/1997<br>Mark H. Paalman - updated : 1/23/1997<br>Iosif W. Lurie - updated : 1/23/1997<br>Iosif W. Lurie - updated : 8/11/1996<br>Moyra Smith - Updated : 5/25/1996<br>Mark H. Paalman - updated : 4/25/1996<br>John Burn - updated : 5/11/1994
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Creation Date:
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Victor A. McKusick : 6/2/1986
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Edit History:
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