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<meta name="keywords" content="C4551972, disease or syndrome, mosaic variegated aneuplody microcephaly syndrome, mosaic variegated aneuploidy syndrome, mva syndrome, warburton anyane yeboa syndrome, warburton-anyane-yeboa syndrome, 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="Mosaic variegated aneuploidy (MVA) is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy Syndrome See also MVA2 (614114), caused by mutation in the CEP57 gene (607951) on chromosome 11q21; MVA3 (617598), caused by mutation in the TRIP13 gene (604507) on chromosome 5p15; MVA4 (620153), caused by mutation in the CENATAC gene (620142) on chromosome 11q23; MVA5 (620184), caused by mutation in the SLF2 gene (610348) on chromosome 10q24; and MVA6 (620185), caused by mutation in the SMC5 gene (609386) on chromosome 9q21." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1641418
|
||
ConceptID=C4551972
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Mosaic variegated aneuploidy syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641418</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:">C4551972</span></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>MVA SYNDROME</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Mosaic variegated aneuploidy syndrome (700056005)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/9702">CEP57</a>, <a target="_blank" href="/gene/9319">TRIP13</a>, <a target="_blank" href="/gene/701">BUB1B</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0000141" target="_blank">MONDO:0000141</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS257300" target="_blank">PS257300</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=1052">ORPHA1052</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_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>
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<div class="portlet_content ln">Mosaic variegated aneuploidy (MVA) is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy Syndrome See also MVA2 (614114), caused by mutation in the CEP57 gene (607951) on chromosome 11q21; MVA3 (617598), caused by mutation in the TRIP13 gene (604507) on chromosome 5p15; MVA4 (620153), caused by mutation in the CENATAC gene (620142) on chromosome 11q23; MVA5 (620184), caused by mutation in the SLF2 gene (610348) on chromosome 10q24; and MVA6 (620185), caused by mutation in the SMC5 gene (609386) on chromosome 9q21. [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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||
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||
<div class="portlet mgSection" id="ID_118">
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||
<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="matched_ds"><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">Mosaic variegated aneuploidy syndrome</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="TLclosed"><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"><a href="/medgen/1616382" ref="tree=GTR&ncbi_uid=1616382&link_uid=1616382" title="View MedGen record for 'Mosaic variegated aneuploidy syndrome 3'">Mosaic variegated aneuploidy syndrome 3</a></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="matched_ds">Mosaic variegated aneuploidy syndrome</span><ul><li><span class="TLline"><a href="/medgen/338026" ref="tree=MeSH" title="MedGen record for Mosaic variegated aneuploidy syndrome 1">Mosaic variegated aneuploidy syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/481473" ref="tree=MeSH" title="MedGen record for Mosaic variegated aneuploidy syndrome 2">Mosaic variegated aneuploidy syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/1616382" ref="tree=MeSH" title="MedGen record for Mosaic variegated aneuploidy syndrome 3">Mosaic variegated aneuploidy syndrome 3</a></span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33720449">Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levy B,
|
||
Hoffmann ER,
|
||
McCoy RC,
|
||
Grati FR</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2021 Apr;41(5):631-641.
|
||
Epub 2021 Mar 22
|
||
doi: 10.1002/pd.5931.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33720449" target="_blank">33720449</a><a href="/pmc/articles/PMC8176867" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(mosaic%20variegated%20aneuploidy%20syndrome)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></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/31963583">Applications of Genome Editing Technology in Research on Chromosome Aneuploidy Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akutsu SN,
|
||
Fujita K,
|
||
Tomioka K,
|
||
Miyamoto T,
|
||
Matsuura S</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2020 Jan 17;9(1)
|
||
doi: 10.3390/cells9010239.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31963583" target="_blank">31963583</a><a href="/pmc/articles/PMC7016705" target="_blank" class="PubMedFree">Free PMC Article</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/23495138">Apparent germline mosaicism for a novel 19p13.13 deletion disrupting NFIX and CACNA1A.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nimmakayalu M,
|
||
Horton VK,
|
||
Darbro B,
|
||
Patil SR,
|
||
Alsayouf H,
|
||
Keppler-Noreuil K,
|
||
Shchelochkov OA</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2013 May;161A(5):1105-9.
|
||
Epub 2013 Mar 13
|
||
doi: 10.1002/ajmg.a.35790.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23495138" target="_blank">23495138</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22824904">Molecular detection of cryptic Y-chromosomal material in patients with Turner syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cortés-Gutiérrez EI,
|
||
Herrera-Bartolo R,
|
||
Dávila-Rodríguez MI,
|
||
Palacios-Saucedo GC,
|
||
Vargas-Villarreal J,
|
||
Romero-Villarreal JB</span><br />
|
||
<span class="medgenPMjournal">Oncol Rep</span>
|
||
2012 Oct;28(4):1205-10.
|
||
Epub 2012 Jul 16
|
||
doi: 10.3892/or.2012.1916.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22824904" target="_blank">22824904</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14081161">TRANSVESTISM AND FERTILITY IN A CHROMOSOMAL MOSAIC.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DOWLING RH,
|
||
KNOX SJ</span><br />
|
||
<span class="medgenPMjournal">Postgrad Med J</span>
|
||
1963 Nov;39(457):665-9.
|
||
doi: 10.1136/pgmj.39.457.665.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14081161" target="_blank">14081161</a><a href="/pmc/articles/PMC2482624" 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%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 (18)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31184400">Rhabdomyosarcoma with premature chromatid separation-mosaic variegated aneuploidy syndrome: Reduced-intensity chemotherapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nishitani-Isa M,
|
||
Hiraumi Y,
|
||
Nishida Y,
|
||
Usami I,
|
||
Maihara T</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2019 Jun;61(6):613-616.
|
||
Epub 2019 Jun 11
|
||
doi: 10.1111/ped.13849.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31184400" target="_blank">31184400</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,
|
||
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 class="nl"><a target="_blank" href="/pubmed/22824904">Molecular detection of cryptic Y-chromosomal material in patients with Turner syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cortés-Gutiérrez EI,
|
||
Herrera-Bartolo R,
|
||
Dávila-Rodríguez MI,
|
||
Palacios-Saucedo GC,
|
||
Vargas-Villarreal J,
|
||
Romero-Villarreal JB</span><br />
|
||
<span class="medgenPMjournal">Oncol Rep</span>
|
||
2012 Oct;28(4):1205-10.
|
||
Epub 2012 Jul 16
|
||
doi: 10.3892/or.2012.1916.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22824904" target="_blank">22824904</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16059936">Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Callier P,
|
||
Faivre L,
|
||
Cusin V,
|
||
Marle N,
|
||
Thauvin-Robinet C,
|
||
Sandre D,
|
||
Rousseau T,
|
||
Sagot P,
|
||
Lacombe E,
|
||
Faber V,
|
||
Mugneret F</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2005 Aug 30;137(2):204-7.
|
||
doi: 10.1002/ajmg.a.30783.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16059936" target="_blank">16059936</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mosaic%20variegated%20aneuploidy%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 (23)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31184400">Rhabdomyosarcoma with premature chromatid separation-mosaic variegated aneuploidy syndrome: Reduced-intensity chemotherapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nishitani-Isa M,
|
||
Hiraumi Y,
|
||
Nishida Y,
|
||
Usami I,
|
||
Maihara T</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2019 Jun;61(6):613-616.
|
||
Epub 2019 Jun 11
|
||
doi: 10.1111/ped.13849.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31184400" target="_blank">31184400</a></div>
|
||
|
||
<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 />
|
||
<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/24667481">The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taylor TH,
|
||
Gitlin SA,
|
||
Patrick JL,
|
||
Crain JL,
|
||
Wilson JM,
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Griffin DK</span><br />
|
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|
||
2014 Jul-Aug;20(4):571-81.
|
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Epub 2014 Mar 25
|
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|
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<span class="bold">PMID: </span><a href="/pubmed/24667481" target="_blank">24667481</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24369136">Male-mediated developmental toxicity.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Anderson D,
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2014 Jan-Feb;16(1):81-8.
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<span class="bold">PMID: </span><a href="/pubmed/24369136" target="_blank">24369136</a><a href="/pmc/articles/PMC3901885" 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>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Alamillo CM,
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Krantz D,
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Evans M,
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Fiddler M,
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2013 Mar;33(3):251-6.
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<span class="bold">PMID: </span><a href="/pubmed/23354915" target="_blank">23354915</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mosaic%20variegated%20aneuploidy%20syndrome%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 (6)</a></div><h3 class="subhead">Prognosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/38664248">Sudden unexpected postnatal collapse and BUB1B mutation: first forensic case report.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Esposito M,
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2024 Sep;138(5):2049-2055.
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<span class="bold">PMID: </span><a href="/pubmed/38664248" target="_blank">38664248</a><a href="/pmc/articles/PMC11306263" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<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,
|
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Saluja S,
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||
Ethayathulla AS,
|
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Jana M,
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Shukla R,
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Palanichamy JK,
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Gupta N</span><br />
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<span class="medgenPMjournal">Clin Genet</span>
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||
2023 Apr;103(4):478-483.
|
||
Epub 2023 Jan 23
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doi: 10.1111/cge.14297.
|
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<span class="bold">PMID: </span><a href="/pubmed/36635612" target="_blank">36635612</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31081598">Long-term remission of bilateral Wilms tumors that developed from premature separation of chromatids/mosaic variegated aneuploidy syndrome due to bilateral nephrectomy and peritoneal dialysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ochiai K,
|
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Yamada A,
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Kimoto Y,
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Imamura H,
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Ikeda T,
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Matsukubo M,
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Ieiri S,
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Moritake H</span><br />
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<span class="medgenPMjournal">Pediatr Blood Cancer</span>
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2019 Aug;66(8):e27804.
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||
Epub 2019 May 13
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doi: 10.1002/pbc.27804.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31081598" target="_blank">31081598</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24259107">CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pinson L,
|
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Mannini L,
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Willems M,
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Cucco F,
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Geneviève D,
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Musio A</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
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2014 Jan;164A(1):177-81.
|
||
Epub 2013 Nov 20
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|
||
<span class="bold">PMID: </span><a href="/pubmed/24259107" target="_blank">24259107</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,
|
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Bocéno M,
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||
Rival JM,
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||
Méchinaud F,
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||
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.
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||
<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%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 (8)</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/30804344">The Cep57-pericentrin module organizes PCM expansion and centriole engagement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Watanabe K,
|
||
Takao D,
|
||
Ito KK,
|
||
Takahashi M,
|
||
Kitagawa D</span><br />
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||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2019 Feb 25;10(1):931.
|
||
doi: 10.1038/s41467-019-08862-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30804344" target="_blank">30804344</a><a href="/pmc/articles/PMC6389942" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24324169">Whole chromosome gain does not in itself confer cancer-like chromosomal instability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Valind A,
|
||
Jin Y,
|
||
Baldetorp B,
|
||
Gisselsson D</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
2013 Dec 24;110(52):21119-23.
|
||
Epub 2013 Dec 9
|
||
doi: 10.1073/pnas.1311163110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24324169" target="_blank">24324169</a><a href="/pmc/articles/PMC3876223" target="_blank" class="PubMedFree">Free PMC Article</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 />
|
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<span class="medgenPMjournal">Nat Commun</span>
|
||
2012;3:1251.
|
||
doi: 10.1038/ncomms2249.
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|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23015528">Prenatal detection of del(10)(q11.2) mosaicism in chorionic villus specimens likely caused by a common chromosomal fragile site FRA10G is associated with a normal phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liao J,
|
||
Sathanoori M,
|
||
Yatsenko SA,
|
||
Hu J,
|
||
Kochmar SJ,
|
||
Hoffner L,
|
||
Hogge WA,
|
||
Surti U</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2012 Dec;32(12):1166-9.
|
||
Epub 2012 Sep 26
|
||
doi: 10.1002/pd.3977.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23015528" target="_blank">23015528</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mosaic%20variegated%20aneuploidy%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 (11)</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 -->
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||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<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>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4551972%5bDISCUI%5d&filter=method%3A3%5F32" target="_blank">Karyotyping (8)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4551972%5bDISCUI%5d" target="_blank">See all (8)</a></total></li>
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||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<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>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS257300" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1052" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Mosaic%20variegated%20aneuploidy%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
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|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(mosaic%20variegated%20aneuploidy%20syndrome)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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|
||
<div class="portlet mgSection" id="ID_116">
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<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>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Mosaic%20variegated%20aneuploidy%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/3007/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">
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<h3>Reviews</h3>
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</div>
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<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>
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</div>
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||
<div class="portlet_content">
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||
<ul>
|
||
<li>
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||
<a href="/pubmed/clinical?term=Mosaic%20variegated%20aneuploidy%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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||
</li>
|
||
<li>
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||
<a href="/pubmed?term=Mosaic%20variegated%20aneuploidy%20syndrome%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 -->
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<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>
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||
<div class="portlet_content DiscoveryDbLinks">
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||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1641418" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4551972[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4551972[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=1641418" ref="log$=recordlinks">MeSH</a>
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