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<meta name="keywords" content="C4539839, disease or syndrome, mosaic variegated aneuploidy syndrome 3, mva3, trip13, 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="MVA3 is an autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay (summary by Yost et al., 2017). For a discussion of genetic heterogeneity of MVA, see MVA1 (257300)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1616382
|
||
ConceptID=C4539839
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Mosaic variegated aneuploidy syndrome 3<span class="h1sub">(MVA3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1616382</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.">C4539839</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>MVA3</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="TRIP13 - ID: 9319 - NCBI Gene" href="/gene/9319" class="medgenPMinfo">TRIP13</a> (5p15.33)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0054736" target="_blank">MONDO:0054736</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617598" target="_blank">617598</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>
|
||
<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">MVA3 is an autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay (summary by Yost et al., 2017). For a discussion of genetic heterogeneity of MVA, see MVA1 (257300). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</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>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_10221"><div><strong>Nephroblastoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10221</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.">C0027708</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10221">Feature record</a> | <a href="/medgen?term=%22Nephroblastoma%22%5BClinical%20Features%5D%20OR%2010221%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65140"><div><strong>Horseshoe kidney</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65140</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.">C0221353</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65140">Feature record</a> | <a href="/medgen?term=%22Horseshoe%20kidney%22%5BClinical%20Features%5D%20OR%2065140%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</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.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99124"><div><strong>Growth delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99124</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.">C0456070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deficiency or slowing down of growth pre- and postnatally.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99124">Feature record</a> | <a href="/medgen?term=%22Growth%20delay%22%5BClinical%20Features%5D%20OR%2099124%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65980"><div><strong>Low-set ears</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65980</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.">C0239234</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65980">Feature record</a> | <a href="/medgen?term=%22Low-set%20ears%22%5BClinical%20Features%5D%20OR%2065980%5Buid%5D">Search on this feature</a></div></div>
|
||
<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>
|
||
<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>
|
||
<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>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</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.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1830310"><div><strong>Arthrogryposis multiplex congenita</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830310</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.">C5779613</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple congenital contractures in different body areas.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1830310">Feature record</a> | <a href="/medgen?term=%22Arthrogryposis%20multiplex%20congenita%22%5BClinical%20Features%5D%20OR%201830310%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66809"><div><strong>Convex nasal ridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66809</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.">C0240538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66809">Feature record</a> | <a href="/medgen?term=%22Convex%20nasal%20ridge%22%5BClinical%20Features%5D%20OR%2066809%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_756015"><div><strong>Cleft palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>756015</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.">C2981150</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/756015">Feature record</a> | <a href="/medgen?term=%22Cleft%20palate%22%5BClinical%20Features%5D%20OR%20756015%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870435"><div><strong>Few cafe-au-lait spots</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870435</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.">C4024881</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of two to five cafe-au-lait macules.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870435">Feature record</a> | <a href="/medgen?term=%22Few%20cafe-au-lait%20spots%22%5BClinical%20Features%5D%20OR%20870435%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</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.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_473112"><div><strong>Deeply set eye</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>473112</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.">C0423224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An eye that is more deeply recessed into the plane of the face than is typical.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/473112">Feature record</a> | <a href="/medgen?term=%22Deeply%20set%20eye%22%5BClinical%20Features%5D%20OR%20473112%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1632921"><div><strong>Rod-cone dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632921</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.">C4551714</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1632921">Feature record</a> | <a href="/medgen?term=%22Rod-cone%20dystrophy%22%5BClinical%20Features%5D%20OR%201632921%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867516"><div><strong>Premature chromatid separation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867516</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.">C4021899</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Cell or Molecular Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of premature sister chromatid segregation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867516">Feature record</a> | <a href="/medgen?term=%22Premature%20chromatid%20separation%22%5BClinical%20Features%5D%20OR%20867516%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">Abnormal cellular phenotype</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867516" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature chromatid separation</a></span></li></ul></li><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_756015" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66809" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Convex nasal ridge</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_473112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deeply set eye</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1632921" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rod-cone dystrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65140" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Horseshoe kidney</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870435" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Few cafe-au-lait spots</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_1830310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis multiplex congenita</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</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_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</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></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low-set ears</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10221" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephroblastoma</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></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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551972[DISCUI]&test_type=Clinical" ref="ncbi_uid=1641418">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1641418" ref="ncbi_uid=1641418">V</a></span></span><span class="TLline"><a href="/medgen/1641418" ref="tree=GTR&ncbi_uid=1641418&link_uid=1641418" title="View MedGen record for 'Mosaic variegated aneuploidy syndrome'">Mosaic variegated aneuploidy syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850343[DISCUI]&test_type=Clinical" ref="ncbi_uid=338026">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=338026" target="_blank" href="/omim/257300">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=338026" ref="ncbi_uid=338026">V</a></span></span><span class="TLline"><a href="/medgen/338026" ref="tree=GTR&ncbi_uid=338026&link_uid=338026" title="View MedGen record for 'Mosaic variegated aneuploidy syndrome 1'">Mosaic variegated aneuploidy syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3279843[DISCUI]&test_type=Clinical" ref="ncbi_uid=481473">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481473" target="_blank" href="/omim/607951">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481473" ref="ncbi_uid=481473">V</a></span></span><span class="TLline"><a href="/medgen/481473" ref="tree=GTR&ncbi_uid=481473&link_uid=481473" title="View MedGen record for 'Mosaic variegated aneuploidy syndrome 2'">Mosaic variegated aneuploidy syndrome 2</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4539839[DISCUI]&test_type=Clinical" ref="ncbi_uid=1616382">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1616382" target="_blank" href="/omim/604507">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1616382" ref="ncbi_uid=1616382">V</a></span></span><span class="TLline">Mosaic variegated aneuploidy syndrome 3</span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843065" ref="tree=MeSH" title="MedGen record for Chromosomal anomaly with cataract">Chromosomal anomaly with cataract</a></span><ul><li><span class="TLline"><a href="/medgen/1641418" ref="tree=MeSH" title="MedGen record for Mosaic variegated aneuploidy syndrome">Mosaic variegated aneuploidy syndrome</a></span><ul><li><span class="matched_ds">Mosaic variegated aneuploidy syndrome 3</span></li></ul></li></ul></li></ul></div></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/25696020">A case report of a fetus with mosaic autosomal variegated aneuploidies and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cho CH,
|
||
Oh MJ,
|
||
Lim CS,
|
||
Lee CK,
|
||
Cho Y,
|
||
Yoon SY</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Lab Sci</span>
|
||
2015 Winter;45(1):106-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25696020" target="_blank">25696020</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24714101">Mitotic stability of small supernumerary marker chromosomes: a study based on 93 immortalized cell lines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spittel H,
|
||
Kubek F,
|
||
Kreskowski K,
|
||
Ziegler M,
|
||
Klein E,
|
||
Hamid AB,
|
||
Kosyakova N,
|
||
Radhakrishnan G,
|
||
Junge A,
|
||
Kozlowski P,
|
||
Schulze B,
|
||
Martin T,
|
||
Huhle D,
|
||
Mehnert K,
|
||
Rodríguez L,
|
||
Ergun MA,
|
||
Sarri C,
|
||
Militaru M,
|
||
Stipoljev F,
|
||
Tittelbach H,
|
||
Vasheghani F,
|
||
de Bello Cioffi M,
|
||
Hussein SS,
|
||
Fan X,
|
||
Volleth M,
|
||
Liehr T</span><br />
|
||
<span class="medgenPMjournal">Cytogenet Genome Res</span>
|
||
2014;142(3):151-60.
|
||
Epub 2014 Apr 1
|
||
doi: 10.1159/000360776.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24714101" target="_blank">24714101</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23533652">Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schick UM,
|
||
McDavid A,
|
||
Crane PK,
|
||
Weston N,
|
||
Ehrlich K,
|
||
Newton KM,
|
||
Wallace R,
|
||
Bookman E,
|
||
Harrison T,
|
||
Aragaki A,
|
||
Crosslin DR,
|
||
Wang SS,
|
||
Reiner AP,
|
||
Jackson RD,
|
||
Peters U,
|
||
Larson EB,
|
||
Jarvik GP,
|
||
Carlson CS</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2013;8(3):e59823.
|
||
Epub 2013 Mar 22
|
||
doi: 10.1371/journal.pone.0059823.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23533652" target="_blank">23533652</a><a href="/pmc/articles/PMC3606281" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23168997">The detection of mosaicism by prenatal BoBs™.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheng YK,
|
||
Wong C,
|
||
Wong HK,
|
||
Leung KO,
|
||
Kwok YK,
|
||
Suen A,
|
||
Wang CC,
|
||
Leung TY,
|
||
Choy KW</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2013 Jan;33(1):42-9.
|
||
Epub 2012 Nov 20
|
||
doi: 10.1002/pd.4006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23168997" target="_blank">23168997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11932988">High risk of malignancy in mosaic variegated aneuploidy syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jacquemont S,
|
||
Bocéno M,
|
||
Rival JM,
|
||
Méchinaud F,
|
||
David A</span><br />
|
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<span class="medgenPMjournal">Am J Med Genet</span>
|
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2002 Apr 15;109(1):17-21; discussion 16.
|
||
doi: 10.1002/ajmg.10281.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11932988" target="_blank">11932988</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mosaic%20variegated%20aneuploidy%20syndrome%203%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 (9)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39392177">A Distinctive Type of Mosaic Variegated Aneuploidy: Case Report and Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frattini A,
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Micheloni G,
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Musio A,
|
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Antunes MB,
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Barbot J,
|
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Costa E,
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Seabra P,
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Righi R,
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Orsini F,
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Montalbano G,
|
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Acquati F,
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Porta G,
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Pasquali F,
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||
Valli R</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
|
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2025 Feb;197(2):e63901.
|
||
Epub 2024 Oct 11
|
||
doi: 10.1002/ajmg.a.63901.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39392177" target="_blank">39392177</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24477775">Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hook EB,
|
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Warburton D</span><br />
|
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<span class="medgenPMjournal">Hum Genet</span>
|
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2014 Apr;133(4):417-24.
|
||
Epub 2014 Jan 30
|
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doi: 10.1007/s00439-014-1420-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24477775" target="_blank">24477775</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23168997">The detection of mosaicism by prenatal BoBs™.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheng YK,
|
||
Wong C,
|
||
Wong HK,
|
||
Leung KO,
|
||
Kwok YK,
|
||
Suen A,
|
||
Wang CC,
|
||
Leung TY,
|
||
Choy KW</span><br />
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<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2013 Jan;33(1):42-9.
|
||
Epub 2012 Nov 20
|
||
doi: 10.1002/pd.4006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23168997" target="_blank">23168997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23212380">Dynamic blastomere behaviour reflects human embryo ploidy by the four-cell stage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chavez SL,
|
||
Loewke KE,
|
||
Han J,
|
||
Moussavi F,
|
||
Colls P,
|
||
Munne S,
|
||
Behr B,
|
||
Reijo Pera RA</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2012;3:1251.
|
||
doi: 10.1038/ncomms2249.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23212380" target="_blank">23212380</a><a href="/pmc/articles/PMC3535341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23157062">The challenging trisomy 16: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kontomanolis EN,
|
||
Lambropoulou M,
|
||
Georgiadis A,
|
||
Gramatikopoulou I,
|
||
Deftereou TH,
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||
Galazios G</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Obstet Gynecol</span>
|
||
2012;39(3):412-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23157062" target="_blank">23157062</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mosaic%20variegated%20aneuploidy%20syndrome%203%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 (9)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30010053">A homozygous CEP57 c.915_925dupCAATGTTCAGC mutation in a patient with mosaic variegated aneuploidy syndrome with rhizomelic shortening in the upper and lower limbs and a narrow thorax.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De la Torre-García O,
|
||
Mar-Aldama R,
|
||
Salgado-Sangri R,
|
||
Diaz-Gomez N,
|
||
Bonilla-Arcaute L,
|
||
Diaz-Ponce-Medrano J,
|
||
Guevara-Yañez R,
|
||
Córdova EJ,
|
||
Monge-Cazares T,
|
||
Orozco L,
|
||
Martínez-Hernández A</span><br />
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||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2019 Mar;62(3):195-197.
|
||
Epub 2018 Jul 17
|
||
doi: 10.1016/j.ejmg.2018.07.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30010053" target="_blank">30010053</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23354915">Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alamillo CM,
|
||
Krantz D,
|
||
Evans M,
|
||
Fiddler M,
|
||
Pergament E</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2013 Mar;33(3):251-6.
|
||
Epub 2013 Jan 27
|
||
doi: 10.1002/pd.4054.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23354915" target="_blank">23354915</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mosaic%20variegated%20aneuploidy%20syndrome%203%22%20AND%20Therapy%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">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36635612">Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Langeh N,
|
||
Saluja S,
|
||
Ethayathulla AS,
|
||
Jana M,
|
||
Shukla R,
|
||
Palanichamy JK,
|
||
Gupta N</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2023 Apr;103(4):478-483.
|
||
Epub 2023 Jan 23
|
||
doi: 10.1111/cge.14297.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36635612" target="_blank">36635612</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23533652">Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schick UM,
|
||
McDavid A,
|
||
Crane PK,
|
||
Weston N,
|
||
Ehrlich K,
|
||
Newton KM,
|
||
Wallace R,
|
||
Bookman E,
|
||
Harrison T,
|
||
Aragaki A,
|
||
Crosslin DR,
|
||
Wang SS,
|
||
Reiner AP,
|
||
Jackson RD,
|
||
Peters U,
|
||
Larson EB,
|
||
Jarvik GP,
|
||
Carlson CS</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2013;8(3):e59823.
|
||
Epub 2013 Mar 22
|
||
doi: 10.1371/journal.pone.0059823.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23533652" target="_blank">23533652</a><a href="/pmc/articles/PMC3606281" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23354915">Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alamillo CM,
|
||
Krantz D,
|
||
Evans M,
|
||
Fiddler M,
|
||
Pergament E</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2013 Mar;33(3):251-6.
|
||
Epub 2013 Jan 27
|
||
doi: 10.1002/pd.4054.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23354915" target="_blank">23354915</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11932988">High risk of malignancy in mosaic variegated aneuploidy syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jacquemont S,
|
||
Bocéno M,
|
||
Rival JM,
|
||
Méchinaud F,
|
||
David A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
2002 Apr 15;109(1):17-21; discussion 16.
|
||
doi: 10.1002/ajmg.10281.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11932988" target="_blank">11932988</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mosaic%20variegated%20aneuploidy%20syndrome%203%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36635612">Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Langeh N,
|
||
Saluja S,
|
||
Ethayathulla AS,
|
||
Jana M,
|
||
Shukla R,
|
||
Palanichamy JK,
|
||
Gupta N</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2023 Apr;103(4):478-483.
|
||
Epub 2023 Jan 23
|
||
doi: 10.1111/cge.14297.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36635612" target="_blank">36635612</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23533652">Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schick UM,
|
||
McDavid A,
|
||
Crane PK,
|
||
Weston N,
|
||
Ehrlich K,
|
||
Newton KM,
|
||
Wallace R,
|
||
Bookman E,
|
||
Harrison T,
|
||
Aragaki A,
|
||
Crosslin DR,
|
||
Wang SS,
|
||
Reiner AP,
|
||
Jackson RD,
|
||
Peters U,
|
||
Larson EB,
|
||
Jarvik GP,
|
||
Carlson CS</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2013;8(3):e59823.
|
||
Epub 2013 Mar 22
|
||
doi: 10.1371/journal.pone.0059823.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23533652" target="_blank">23533652</a><a href="/pmc/articles/PMC3606281" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23354915">Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alamillo CM,
|
||
Krantz D,
|
||
Evans M,
|
||
Fiddler M,
|
||
Pergament E</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2013 Mar;33(3):251-6.
|
||
Epub 2013 Jan 27
|
||
doi: 10.1002/pd.4054.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23354915" target="_blank">23354915</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23212380">Dynamic blastomere behaviour reflects human embryo ploidy by the four-cell stage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chavez SL,
|
||
Loewke KE,
|
||
Han J,
|
||
Moussavi F,
|
||
Colls P,
|
||
Munne S,
|
||
Behr B,
|
||
Reijo Pera RA</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2012;3:1251.
|
||
doi: 10.1038/ncomms2249.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23212380" target="_blank">23212380</a><a href="/pmc/articles/PMC3535341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mosaic%20variegated%20aneuploidy%20syndrome%203%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=C4539839%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C4539839%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C4539839%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4539839%5bDISCUI%5d" target="_blank">See all (4)</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=617598" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Mosaic%20variegated%20aneuploidy%20syndrome%203" 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="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=604507" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=9319[geneid]" target="_blank">View TRIP13 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=617598" 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/mosaic_variegated_aneuploidy_syndrome_3" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Mosaic%20variegated%20aneuploidy%20syndrome%203" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16240/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/clinical?term=Mosaic%20variegated%20aneuploidy%20syndrome%203" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Mosaic%20variegated%20aneuploidy%20syndrome%203%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1616382" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1616382" ref="log$=recordlinks">Gene</a>
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