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<meta name="keywords" content="15q11-q13 duplication syndrome, 15q11-q13 microduplication syndrome, 15q11.2-q13.1 duplication syndrome, 15q11q13 duplication syndrome, 15q11q13 microduplication syndrome, C2675336, autism susceptibility 4, autism, susceptibility to, 4, chromosome 15q11-q13 duplication syndrome, chromosome 15q11.2 duplication syndrome, disease or syndrome, dup(15)(q11q13), duplication 15q11-q13 syndrome, trisomy 15q11-q13, trisomy 15q11q13, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Maternal 15q duplication syndrome (maternal dup15q) is characterized by hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms. Rarely, maternal dup15q may also be associated with psychosis or sudden unexplained death. Those with a maternal isodicentric 15q11.2-q13.1 supernumerary chromosome are typically more severely affected than those with an interstitial duplication." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=390767
|
||
ConceptID=C2675336
|
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-->
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<!--imgCountBooks = 3--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (3)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK367946/bin/dup15q-Image002.gif" src-large="/books/NBK367946/bin/dup15q-Image002.jpg" /></a><br /><a href="/books/NBK367946/figure/dup15q.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK367946/bin/dup15q-Image003.gif" src-large="/books/NBK367946/bin/dup15q-Image003.jpg" /></a><br /><a href="/books/NBK367946/figure/dup15q.F3/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK367946/bin/dup15q-Image001.gif" src-large="/books/NBK367946/bin/dup15q-Image001.jpg" /></a><br /><a href="/books/NBK367946/figure/dup15q.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">15q11q13 microduplication syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>390767</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C2675336</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>15q11.2-q13.1 Duplication Syndrome; Chromosome 15q11-q13 duplication syndrome; DUPLICATION 15q11-q13 SYNDROME</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>15q11q13 microduplication syndrome (719427001); Trisomy 15q11q13 (719427001)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_989040"><div><strong>Unknown inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>989040</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307042</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">Hereditary clinical entity whose mode of inheritance is unknown.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/989040">This record</a></div></div>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_989040" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Unknown inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012081" target="_blank">MONDO:0012081</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/608636" target="_blank">608636</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238446">ORPHA238446</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK367946" target="_blank">Maternal 15q Duplication Syndrome</a></div><div>Maternal 15q duplication syndrome (maternal dup15q) is characterized by hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms. Rarely, maternal dup15q may also be associated with psychosis or sudden unexplained death. Those with a maternal isodicentric 15q11.2-q13.1 supernumerary chromosome are typically more severely affected than those with an interstitial duplication. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK367946#dup15q.Summary" target="NBK367946">Summary</a> | <a class="medgenPMinfo" href="/books/NBK367946#dup15q.GeneReview_Scope" target="NBK367946">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK367946#dup15q.Diagnosis" target="NBK367946">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK367946#dup15q.Clinical_Characteristics" target="NBK367946">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK367946#dup15q.Genetically_Related_Disorders" target="NBK367946">Genetically Related Disorders</a> | <a class="medgenPMinfo" href="/books/NBK367946#dup15q.Differential_Diagnosis" target="NBK367946">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK367946#dup15q.Management" target="NBK367946">Management</a> | <a class="medgenPMinfo" href="/books/NBK367946#dup15q.Genetic_Counseling" target="NBK367946">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK367946#dup15q.Resources" target="NBK367946">Resources</a> | <a class="medgenPMinfo" href="/books/NBK367946#dup15q.Molecular_Genetics" target="NBK367946">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK367946#dup15q.Chapter_Notes" target="NBK367946">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK367946#dup15q.References" target="NBK367946">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Laina Lusk | Vanessa Vogel-Farley | Charlotte DiStefano<i>, et. al.</i> <a href="/books/NBK367946" target="NBK367946" title="NCBI Bookshelf: Maternal 15q Duplication Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />The features of the chromosome 15q11-q13 duplication syndrome include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems (Bundey et al., 1994; Burnside et al., 2011).
|
||
See also chromosome 15q13.3 deletion syndrome (612001) and chromosome 15q11.2 deletion syndrome (615656).
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For a discussion of genetic heterogeneity of autism, see 209850. <a target="_blank" href="http://www.omim.org/entry/608636">http://www.omim.org/entry/608636</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />15q11-q13 duplication syndrome (dup15q syndrome) is a developmental disorder; its signs and symptoms vary among affected individuals.<br /><br />Poor muscle tone (hypotonia) is common in individuals with dup15q syndrome and contributes to delayed development and impairment of motor skills, including sitting and walking. Most affected children develop the ability to walk independently after age 2 or 3, and they typically have a wide-based or uncoordinated (ataxic) pattern of walking (gait). Babies with dup15q syndrome often have trouble feeding due to weak facial muscles that impair sucking and swallowing.<br /><br />Intellectual disability also occurs in people with dup15q syndrome and can range from mild to profound; however, it is usually in the moderate to severe range. Speech and language development are particularly affected, with some individuals never developing functional speech. Most individuals with this disorder have autism spectrum disorder (ASD), and many have language problems associated with ASD such as repeating the words of others (echolalia) or repeating particular phrases (stereotypical utterances).<br /><br />Behavioral difficulties are also associated with dup15q syndrome, including other features of ASD such as difficulty with changes in routine and problems with social interaction. Affected individuals may also experience hyperactivity, anxiety, and frustration leading to tantrums. Mood disorders and psychosis occur in some affected individuals.<br /><br />More than half of people with dup15q syndrome have recurrent seizures (epilepsy). The seizures usually develop between the ages of 6 months and 9 years. Some people with dup15q syndrome have only focal seizures, which affect one part of the brain and usually do not cause a loss of consciousness. In other affected individuals, seizures begin with a type called infantile spasms (seizures that usually appear before the age of 1 and involve recurrent muscle contractions) and later include other types of seizures. In addition to focal seizures, these can include rapid uncontrolled muscle jerks (myotonic seizures); tonic-clonic (also called grand mal) seizures, which involve rigidity, convulsions, and loss of consciousness; and absence (also known as petit mal) seizures, which are brief episodes of impaired consciousness that look like staring spells. Affected individuals may develop complex, difficult-to-treat (intractable) seizure patterns such as Lennox-Gastaut syndrome. Seizures can lead to falls, loss of developmental milestones (developmental regression), and in a small minority of cases, sudden death during sleep (called sudden unexpected death in epilepsy, or SUDEP).<br /><br />Hearing loss in childhood is common in dup15q syndrome and usually results from ear infections that cause fluid buildup in the middle ear. This hearing loss is often temporary. However, if ear infections are left untreated during early childhood, the hearing loss can interfere with language development and worsen the speech problems associated with dup15q syndrome.<br /><br />About 30 percent of individuals with dup15q syndrome are born with eyes that do not look in the same direction (strabismus). Other unusual facial features that can occur in this condition include a low forehead; outside corners of the eyes that point downward (downslanting palpebral fissures); a flattened nasal bridge with a short, upturned nose; nostrils that open to the front rather than downward (anteverted nares); a long space between the nose and the upper lip (philtrum); a small lower jaw (micrognathia); a high-arched roof of the mouth (palate); full lips; low-set ears; and a flat back of the head (occiput). These features are typically subtle and may not be noticed during infancy.<br /><br />Other problems associated with dup15q syndrome in some affected individuals include a reduced ability to feel pain; a spine that curves to the side (scoliosis); recurrent respiratory infections in childhood; a skin condition called eczema; early (precocious) puberty and, in females, menstrual irregularities; minor genital abnormalities in males such as undescended testes (cryptorchidism); overeating; and excessive weight gain. <a target="_blank" href="https://medlineplus.gov/genetics/condition/15q11-q13-duplication-syndrome">https://medlineplus.gov/genetics/condition/15q11-q13-duplication-syndrome</a></div></div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_13966"><div><strong>Autism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13966</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0004352</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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<div class="spaceAbove">Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options. Genetic Heterogeneity of Autism Autism is considered to be a complex multifactorial disorder involving many genes. Accordingly, several loci have been identified, some or all of which may contribute to the phenotype. Included in this entry is AUTS1, which has been mapped to chromosome 7q22. Other susceptibility loci include AUTS3 (608049), which maps to chromosome 13q14; AUTS4 (608636), which maps to chromosome 15q11; AUTS6 (609378), which maps to chromosome 17q11; AUTS7 (610676), which maps to chromosome 17q21; AUTS8 (607373), which maps to chromosome 3q25-q27; AUTS9 (611015), which maps to chromosome 7q31; AUTS10 (611016), which maps to chromosome 7q36; AUTS11 (610836), which maps to chromosome 1q41; AUTS12 (610838), which maps to chromosome 21p13-q11; AUTS13 (610908), which maps to chromosome 12q14; AUTS14A (611913), which has been found in patients with a deletion of a region of 16p11.2; AUTS14B (614671), which has been found in patients with a duplication of a region of 16p11.2; AUTS15 (612100), associated with mutation in the CNTNAP2 gene (604569) on chromosome 7q35-q36; AUTS16 (613410), associated with mutation in the SLC9A9 gene (608396) on chromosome 3q24; AUTS17 (613436), associated with mutation in the SHANK2 gene (603290) on chromosome 11q13; AUTS18 (615032), associated with mutation in the CHD8 gene (610528) on chromosome 14q11; AUTS19 (615091), associated with mutation in the EIF4E gene (133440) on chromosome 4q23; and AUTS20 (618830), associated with mutation in the NLGN1 gene (600568) on chromosome 3q26. (NOTE: the symbol 'AUTS2' has been used to refer to a gene on chromosome 7q11 (KIAA0442; 607270) and therefore is not used as a part of this autism locus series.) There are several X-linked forms of autism susceptibility: AUTSX1 (300425), associated with mutations in the NLGN3 gene (300336); AUTSX2 (300495), associated with mutations in NLGN4 (300427); AUTSX3 (300496), associated with mutations in MECP2 (300005); AUTSX4 (300830), associated with variation in the region on chromosome Xp22.11 containing the PTCHD1 gene (300828); AUTSX5 (300847), associated with mutations in the RPL10 gene (312173); and AUTSX6 (300872), associated with mutation in the TMLHE gene (300777). A locus on chromosome 2q (606053) associated with a phenotype including intellectual disability and speech deficits was formerly designated AUTS5. Folstein and Rosen-Sheidley (2001) reviewed the genetics of autism.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/13966">Feature record</a> | <a href="/medgen?term=%22Autism%22%5BClinical%20Features%5D%20OR%2013966%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_8532"><div><strong>Echolalia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8532</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013528</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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<div class="spaceAbove">Echolalia is the automatic imitative repetition of sounds, words, or phrases in the absence of explicit awareness. The repeated words or phrases are typically odd or used in a non-social manner. These can be words or phrases that the affected individual has heard or invented.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/8532">Feature record</a> | <a href="/medgen?term=%22Echolalia%22%5BClinical%20Features%5D%20OR%208532%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_48638"><div><strong>Intellectual disability, severe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48638</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036857</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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<div class="spaceAbove">Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/48638">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20severe%22%5BClinical%20Features%5D%20OR%2048638%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_21318"><div><strong>Motor stereotypies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21318</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
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<div class="spaceAbove">Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Motor%20stereotypies%22%5BClinical%20Features%5D%20OR%2021318%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_56235"><div><strong>EEG abnormality</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56235</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0151611</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/56235">Feature record</a> | <a href="/medgen?term=%22EEG%20abnormality%22%5BClinical%20Features%5D%20OR%2056235%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_68544"><div><strong>Unsteady gait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68544</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0231686</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A shaky or wobbly manner of walking.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/68544">Feature record</a> | <a href="/medgen?term=%22Unsteady%20gait%22%5BClinical%20Features%5D%20OR%2068544%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_96535"><div><strong>Truncal ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96535</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0427190</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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<div class="spaceAbove">Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/96535">Feature record</a> | <a href="/medgen?term=%22Truncal%20ataxia%22%5BClinical%20Features%5D%20OR%2096535%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_141670"><div><strong>Bilateral tonic-clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141670</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0494475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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<div class="spaceAbove">A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/141670">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%22%5BClinical%20Features%5D%20OR%20141670%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_303190"><div><strong>Reduced eye contact</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>303190</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1445953</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A reduced frequency or duration of eye contact.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/303190">Feature record</a> | <a href="/medgen?term=%22Reduced%20eye%20contact%22%5BClinical%20Features%5D%20OR%20303190%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_325221"><div><strong>Impaired ability to form peer relationships</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325221</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1837649</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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<div class="spaceAbove">Difficulty to establish relations with others in a comparable social group (peers) that may be manifested in pehnomena such as not being able to initiative a conversation, understand social cues, or to discuss shared interests. This feature is associated with poor integration within a community or group.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/325221">Feature record</a> | <a href="/medgen?term=%22Impaired%20ability%20to%20form%20peer%20relationships%22%5BClinical%20Features%5D%20OR%20325221%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_373380"><div><strong>Lack of spontaneous play</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373380</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1837650</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/373380">Feature record</a> | <a href="/medgen?term=%22Lack%20of%20spontaneous%20play%22%5BClinical%20Features%5D%20OR%20373380%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_867425"><div><strong>Abnormal nonverbal communicative behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867425</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4021798</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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<div class="spaceAbove">Abnormalities in eye contact, communicative facial expressions, gesture use, or the use of others' bodies to communicate convey shared meanings within a culture that replace or supplement verbal communication.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/867425">Feature record</a> | <a href="/medgen?term=%22Abnormal%20nonverbal%20communicative%20behavior%22%5BClinical%20Features%5D%20OR%20867425%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_892681"><div><strong>Restrictive behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892681</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4021799</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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<div class="spaceAbove">Behavior characterized by an abnormal limitation to a few interests and activities.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/892681">Feature record</a> | <a href="/medgen?term=%22Restrictive%20behavior%22%5BClinical%20Features%5D%20OR%20892681%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_868342"><div><strong>Reduced social responsiveness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868342</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4022736</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/868342">Feature record</a> | <a href="/medgen?term=%22Reduced%20social%20responsiveness%22%5BClinical%20Features%5D%20OR%20868342%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_1853268"><div><strong>Inflexible adherence to routines</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1853268</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5826341</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A need to strictly adhere to repetitive routines or patterns of behavior which are created by the environment. One becomes upset or distressed when their routines are disrupted or altered.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1853268">Feature record</a> | <a href="/medgen?term=%22Inflexible%20adherence%20to%20routines%22%5BClinical%20Features%5D%20OR%201853268%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488950"><div><strong>Increased serum serotonin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488950</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0877243</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A increased concentration of serotonin in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488950">Feature record</a> | <a href="/medgen?term=%22Increased%20serum%20serotonin%22%5BClinical%20Features%5D%20OR%20488950%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488950" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased serum serotonin</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867425" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal nonverbal communicative behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_13966" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_141670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Echolalia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56235" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EEG abnormality</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_325221" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired ability to form peer relationships</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1853268" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inflexible adherence to routines</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, severe</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373380" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lack of spontaneous play</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor stereotypies</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_303190" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced eye contact</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868342" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced social responsiveness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892681" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Restrictive behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96535" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Truncal ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68544" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Unsteady gait</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675336[DISCUI]&test_type=Clinical" ref="ncbi_uid=390767">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=390767" target="_blank" href="/omim/608636">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK367946/" ref="ncbi_uid=390767">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=390767" ref="ncbi_uid=390767">V</a></span></span><span class="TLline">15q11q13 microduplication syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/167076" ref="tree=MeSH" title="MedGen record for Partial duplication of the long arm of chromosome 15">Partial duplication of the long arm of chromosome 15</a></span><ul><li><span class="matched_ds">15q11q13 microduplication syndrome</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=19263&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">15q11q13 microduplication syndrome</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39766813">Clinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11.2 Microduplication and Microdeletion Syndromes with Genetic Counselling Implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vieira DKR,
|
||
Lima IBF,
|
||
Rosenberg C,
|
||
Fonseca CRD,
|
||
Gomes LHF,
|
||
Guida LDC,
|
||
Mazzonetto PC,
|
||
Llerena J Jr,
|
||
Bastos EF</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2024 Nov 29;15(12)
|
||
doi: 10.3390/genes15121546.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39766813" target="_blank">39766813</a><a href="/pmc/articles/PMC11728287" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33611074">Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zech M,
|
||
Boesch S,
|
||
Škorvánek M,
|
||
Necpál J,
|
||
Švantnerová J,
|
||
Wagner M,
|
||
Dincer Y,
|
||
Sadr-Nabavi A,
|
||
Serranová T,
|
||
Rektorová I,
|
||
Havránková P,
|
||
Ganai S,
|
||
Mosejová A,
|
||
Příhodová I,
|
||
Šarláková J,
|
||
Kulcsarová K,
|
||
Ulmanová O,
|
||
Bechyně K,
|
||
Ostrozovičová M,
|
||
Haň V,
|
||
Ventosa JR,
|
||
Shariati M,
|
||
Shoeibi A,
|
||
Weber S,
|
||
Mollenhauer B,
|
||
Trenkwalder C,
|
||
Berutti R,
|
||
Strom TM,
|
||
Ceballos-Baumann A,
|
||
Mall V,
|
||
Haslinger B,
|
||
Jech R,
|
||
Winkelmann J</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2021 Mar;84:129-134.
|
||
Epub 2021 Feb 12
|
||
doi: 10.1016/j.parkreldis.2021.02.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33611074" target="_blank">33611074</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31990460">Multiplex ligation-dependent probe amplification as a screening test in children with autism spectrum disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Łaczmańska I,
|
||
Stembalska A,
|
||
Złocińska M,
|
||
Kozłowska J,
|
||
Skiba P,
|
||
Pesz K,
|
||
Ślęzak R,
|
||
Śmigiel R,
|
||
Jakubiak A,
|
||
Misiak B,
|
||
Sąsiadek MM</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Exp Med</span>
|
||
2020 Jan;29(1):101-106.
|
||
doi: 10.17219/acem/112609.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31990460" target="_blank">31990460</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24239951">Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al Ageeli E,
|
||
Drunat S,
|
||
Delanoë C,
|
||
Perrin L,
|
||
Baumann C,
|
||
Capri Y,
|
||
Fabre-Teste J,
|
||
Aboura A,
|
||
Dupont C,
|
||
Auvin S,
|
||
El Khattabi L,
|
||
Chantereau D,
|
||
Moncla A,
|
||
Tabet AC,
|
||
Verloes A</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2014 Jan;57(1):5-14.
|
||
Epub 2013 Nov 12
|
||
doi: 10.1016/j.ejmg.2013.10.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24239951" target="_blank">24239951</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21324950">Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ingason A,
|
||
Kirov G,
|
||
Giegling I,
|
||
Hansen T,
|
||
Isles AR,
|
||
Jakobsen KD,
|
||
Kristinsson KT,
|
||
le Roux L,
|
||
Gustafsson O,
|
||
Craddock N,
|
||
Möller HJ,
|
||
McQuillin A,
|
||
Muglia P,
|
||
Cichon S,
|
||
Rietschel M,
|
||
Ophoff RA,
|
||
Djurovic S,
|
||
Andreassen OA,
|
||
Pietiläinen OP,
|
||
Peltonen L,
|
||
Dempster E,
|
||
Collier DA,
|
||
St Clair D,
|
||
Rasmussen HB,
|
||
Glenthøj BY,
|
||
Kiemeney LA,
|
||
Franke B,
|
||
Tosato S,
|
||
Bonetto C,
|
||
Saemundsen E,
|
||
Hreidarsson SJ;
|
||
GROUP Investigators,
|
||
Nöthen MM,
|
||
Gurling H,
|
||
O'Donovan MC,
|
||
Owen MJ,
|
||
Sigurdsson E,
|
||
Petursson H,
|
||
Stefansson H,
|
||
Rujescu D,
|
||
Stefansson K,
|
||
Werge T</span><br />
|
||
<span class="medgenPMjournal">Am J Psychiatry</span>
|
||
2011 Apr;168(4):408-17.
|
||
Epub 2011 Feb 15
|
||
doi: 10.1176/appi.ajp.2010.09111660.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21324950" target="_blank">21324950</a><a href="/pmc/articles/PMC3428917" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%2215q11q13%20microduplication%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39766813">Clinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11.2 Microduplication and Microdeletion Syndromes with Genetic Counselling Implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vieira DKR,
|
||
Lima IBF,
|
||
Rosenberg C,
|
||
Fonseca CRD,
|
||
Gomes LHF,
|
||
Guida LDC,
|
||
Mazzonetto PC,
|
||
Llerena J Jr,
|
||
Bastos EF</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2024 Nov 29;15(12)
|
||
doi: 10.3390/genes15121546.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39766813" target="_blank">39766813</a><a href="/pmc/articles/PMC11728287" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39457428">Chromosome 15q11-q13 Duplication Syndrome: A Review of the Literature and 14 New Cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bisba M,
|
||
Malamaki C,
|
||
Constantoulakis P,
|
||
Vittas S</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2024 Oct 8;15(10)
|
||
doi: 10.3390/genes15101304.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39457428" target="_blank">39457428</a><a href="/pmc/articles/PMC11507414" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33611074">Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zech M,
|
||
Boesch S,
|
||
Škorvánek M,
|
||
Necpál J,
|
||
Švantnerová J,
|
||
Wagner M,
|
||
Dincer Y,
|
||
Sadr-Nabavi A,
|
||
Serranová T,
|
||
Rektorová I,
|
||
Havránková P,
|
||
Ganai S,
|
||
Mosejová A,
|
||
Příhodová I,
|
||
Šarláková J,
|
||
Kulcsarová K,
|
||
Ulmanová O,
|
||
Bechyně K,
|
||
Ostrozovičová M,
|
||
Haň V,
|
||
Ventosa JR,
|
||
Shariati M,
|
||
Shoeibi A,
|
||
Weber S,
|
||
Mollenhauer B,
|
||
Trenkwalder C,
|
||
Berutti R,
|
||
Strom TM,
|
||
Ceballos-Baumann A,
|
||
Mall V,
|
||
Haslinger B,
|
||
Jech R,
|
||
Winkelmann J</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2021 Mar;84:129-134.
|
||
Epub 2021 Feb 12
|
||
doi: 10.1016/j.parkreldis.2021.02.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33611074" target="_blank">33611074</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33538077">A report on seven fetal cases associated with 15q11-q13 microdeletion and microduplication.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang X,
|
||
Chen J,
|
||
Hu W,
|
||
Li L,
|
||
He H,
|
||
Guo H,
|
||
Liao Q,
|
||
Ye M,
|
||
Tang D,
|
||
Dai Y</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2021 Mar;9(3):e1605.
|
||
Epub 2021 Feb 4
|
||
doi: 10.1002/mgg3.1605.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33538077" target="_blank">33538077</a><a href="/pmc/articles/PMC8104164" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31990460">Multiplex ligation-dependent probe amplification as a screening test in children with autism spectrum disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Łaczmańska I,
|
||
Stembalska A,
|
||
Złocińska M,
|
||
Kozłowska J,
|
||
Skiba P,
|
||
Pesz K,
|
||
Ślęzak R,
|
||
Śmigiel R,
|
||
Jakubiak A,
|
||
Misiak B,
|
||
Sąsiadek MM</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Exp Med</span>
|
||
2020 Jan;29(1):101-106.
|
||
doi: 10.17219/acem/112609.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31990460" target="_blank">31990460</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%2215q11q13%20microduplication%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39457428">Chromosome 15q11-q13 Duplication Syndrome: A Review of the Literature and 14 New Cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bisba M,
|
||
Malamaki C,
|
||
Constantoulakis P,
|
||
Vittas S</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2024 Oct 8;15(10)
|
||
doi: 10.3390/genes15101304.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39457428" target="_blank">39457428</a><a href="/pmc/articles/PMC11507414" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33611074">Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zech M,
|
||
Boesch S,
|
||
Škorvánek M,
|
||
Necpál J,
|
||
Švantnerová J,
|
||
Wagner M,
|
||
Dincer Y,
|
||
Sadr-Nabavi A,
|
||
Serranová T,
|
||
Rektorová I,
|
||
Havránková P,
|
||
Ganai S,
|
||
Mosejová A,
|
||
Příhodová I,
|
||
Šarláková J,
|
||
Kulcsarová K,
|
||
Ulmanová O,
|
||
Bechyně K,
|
||
Ostrozovičová M,
|
||
Haň V,
|
||
Ventosa JR,
|
||
Shariati M,
|
||
Shoeibi A,
|
||
Weber S,
|
||
Mollenhauer B,
|
||
Trenkwalder C,
|
||
Berutti R,
|
||
Strom TM,
|
||
Ceballos-Baumann A,
|
||
Mall V,
|
||
Haslinger B,
|
||
Jech R,
|
||
Winkelmann J</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2021 Mar;84:129-134.
|
||
Epub 2021 Feb 12
|
||
doi: 10.1016/j.parkreldis.2021.02.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33611074" target="_blank">33611074</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%2215q11q13%20microduplication%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39457428">Chromosome 15q11-q13 Duplication Syndrome: A Review of the Literature and 14 New Cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bisba M,
|
||
Malamaki C,
|
||
Constantoulakis P,
|
||
Vittas S</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2024 Oct 8;15(10)
|
||
doi: 10.3390/genes15101304.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39457428" target="_blank">39457428</a><a href="/pmc/articles/PMC11507414" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33611074">Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zech M,
|
||
Boesch S,
|
||
Škorvánek M,
|
||
Necpál J,
|
||
Švantnerová J,
|
||
Wagner M,
|
||
Dincer Y,
|
||
Sadr-Nabavi A,
|
||
Serranová T,
|
||
Rektorová I,
|
||
Havránková P,
|
||
Ganai S,
|
||
Mosejová A,
|
||
Příhodová I,
|
||
Šarláková J,
|
||
Kulcsarová K,
|
||
Ulmanová O,
|
||
Bechyně K,
|
||
Ostrozovičová M,
|
||
Haň V,
|
||
Ventosa JR,
|
||
Shariati M,
|
||
Shoeibi A,
|
||
Weber S,
|
||
Mollenhauer B,
|
||
Trenkwalder C,
|
||
Berutti R,
|
||
Strom TM,
|
||
Ceballos-Baumann A,
|
||
Mall V,
|
||
Haslinger B,
|
||
Jech R,
|
||
Winkelmann J</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2021 Mar;84:129-134.
|
||
Epub 2021 Feb 12
|
||
doi: 10.1016/j.parkreldis.2021.02.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33611074" target="_blank">33611074</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24239951">Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al Ageeli E,
|
||
Drunat S,
|
||
Delanoë C,
|
||
Perrin L,
|
||
Baumann C,
|
||
Capri Y,
|
||
Fabre-Teste J,
|
||
Aboura A,
|
||
Dupont C,
|
||
Auvin S,
|
||
El Khattabi L,
|
||
Chantereau D,
|
||
Moncla A,
|
||
Tabet AC,
|
||
Verloes A</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2014 Jan;57(1):5-14.
|
||
Epub 2013 Nov 12
|
||
doi: 10.1016/j.ejmg.2013.10.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24239951" target="_blank">24239951</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21324950">Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ingason A,
|
||
Kirov G,
|
||
Giegling I,
|
||
Hansen T,
|
||
Isles AR,
|
||
Jakobsen KD,
|
||
Kristinsson KT,
|
||
le Roux L,
|
||
Gustafsson O,
|
||
Craddock N,
|
||
Möller HJ,
|
||
McQuillin A,
|
||
Muglia P,
|
||
Cichon S,
|
||
Rietschel M,
|
||
Ophoff RA,
|
||
Djurovic S,
|
||
Andreassen OA,
|
||
Pietiläinen OP,
|
||
Peltonen L,
|
||
Dempster E,
|
||
Collier DA,
|
||
St Clair D,
|
||
Rasmussen HB,
|
||
Glenthøj BY,
|
||
Kiemeney LA,
|
||
Franke B,
|
||
Tosato S,
|
||
Bonetto C,
|
||
Saemundsen E,
|
||
Hreidarsson SJ;
|
||
GROUP Investigators,
|
||
Nöthen MM,
|
||
Gurling H,
|
||
O'Donovan MC,
|
||
Owen MJ,
|
||
Sigurdsson E,
|
||
Petursson H,
|
||
Stefansson H,
|
||
Rujescu D,
|
||
Stefansson K,
|
||
Werge T</span><br />
|
||
<span class="medgenPMjournal">Am J Psychiatry</span>
|
||
2011 Apr;168(4):408-17.
|
||
Epub 2011 Feb 15
|
||
doi: 10.1176/appi.ajp.2010.09111660.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21324950" target="_blank">21324950</a><a href="/pmc/articles/PMC3428917" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%2215q11q13%20microduplication%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2675336%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675336%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675336%5bDISCUI%5d&filter=method%3A3%5F24" target="_blank">FISH-metaphase (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675336%5bDISCUI%5d&filter=method%3A3%5F31" target="_blank">Fluorescence in situ hybridization (FISH) (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2675336%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=608636" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=238446" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=15q11q13%20microduplication%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://catalog.coriell.org/Search?q=608636" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/chromosome_15q11_q13_duplication_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=15q11q13%20microduplication%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/15q11-q13-duplication-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/17172/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/27308687" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=15q11q13%20microduplication%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=15q11q13%20microduplication%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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<div class="portlet_title">
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<h3>Related information</h3>
|
||
</div>
|
||
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||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
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||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=390767" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2675336[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2675336[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=390767" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=390767" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=390767" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=390767" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=390767" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=390767" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=390767" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
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|
||
<div id="HTDisplay" class="">
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<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
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<div class="action">
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