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<!--
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UID=867516
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ConceptID=C4021899
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Premature chromatid separation</div></h1><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><table class="medgenTable"><tbody><tr><td>HPO:</td>
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0200024">HP:0200024</a></td></tr>
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<div class="portlet_content ln">The presence of premature sister chromatid segregation. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_338026"><div><strong>Mosaic variegated aneuploidy syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338026</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.">C1850343</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of chromosomes instead of the usual 46 chromosomes, a situation known as aneuploidy. Most commonly, cells have an extra chromosome, which is called trisomy, or are missing a chromosome, which is known as monosomy. In MVA syndrome, some cells are aneuploid and others have the normal number of chromosomes, which is a phenomenon known as mosaicism. Typically, at least one-quarter of cells in affected individuals have an abnormal number of chromosomes. Because the additional or missing chromosomes vary among the abnormal cells, the aneuploidy is described as variegated.\n\nThere are at least three types of MVA syndrome, each with a different genetic cause. Type 1 is the most common and displays the classic signs and symptoms described above. Type 2 appears to have slightly different signs and symptoms than type 1, although the small number of affected individuals makes it difficult to define its characteristic features. Individuals with MVA syndrome type 2 grow slowly before and after birth; however, their head size is typically normal. Some people with MVA syndrome type 2 have unusually short arms. Individuals with MVA syndrome type 2 do not seem to have an increased risk of cancer. Another form of MVA syndrome is characterized by a high risk of developing Wilms tumor. Individuals with this form may also have other signs and symptoms typical of MVA syndrome type 1.\n\nIn MVA syndrome, growth before birth is slow (intrauterine growth restriction). After birth, affected individuals continue to grow at a slow rate and are shorter than average. In addition, they typically have an unusually small head size (microcephaly). Another common feature of MVA syndrome is an increased risk of developing cancer in childhood. Cancers that occur most frequently in affected individuals include a cancer of muscle tissue called rhabdomyosarcoma, a form of kidney cancer known as Wilms tumor, and a cancer of the blood-forming tissue known as leukemia.\n\nLess commonly, people with MVA syndrome have eye abnormalities or distinctive facial features, such as a broad nasal bridge and low-set ears. Some affected individuals have brain abnormalities, the most common of which is called Dandy-Walker malformation. Intellectual disability, seizures, and other health problems can also occur in people with MVA syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338026">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344288"><div><strong>Tuberous sclerosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344288</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.">C1854465</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, TSC-associated neuropsychiatric disorder [TAND]); kidneys (benign renal angiomyolipomas, epithelial cysts, oncocytoma, renal cell carcinoma); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system-related problems (including TAND) are the leading cause of morbidity, whereas kidney disease is the leading cause of mortality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344288">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400517"><div><strong>Premature chromatid separation trait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400517</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.">C1864389</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Premature chromatid separation consists of separate and splayed chromatids with discernible centromeres and involves all or most chromosomes of a metaphase. It is found in up to 2% of metaphases in cultured lymphocytes from approximately 40% of normal individuals. When PCS is present in 5% or more of cells, it is known as the 'heterozygous PCS trait' and has no obvious phenotypic effect, although some have reported decreased fertility (Gabarron et al., 1986). Inheritance is autosomal codominant (Kajii and Ikeuchi, 2004). See also 158250 for a possible inherited predisposition to nondisjunction, which may be a related phenomenon.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400517">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1616382"><div><strong>Mosaic variegated aneuploidy syndrome 3</strong><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></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1616382">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338026" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mosaic variegated aneuploidy syndrome 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1616382" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mosaic variegated aneuploidy syndrome 3</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400517" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature chromatid separation trait</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tuberous sclerosis 1</a></div></div>
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||
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|
||
<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/15098245">Prenatal diagnosis of a heterozygous carrier of premature chromatid separation (PCS) trait.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kajii T,
|
||
Asamoto A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2004 May 1;126A(4):432.
|
||
doi: 10.1002/ajmg.a.20615.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15098245" target="_blank">15098245</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22premature%20chromatid%20separation%22%5Btiab%3A~0%5D)%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/24344301">TALEN-mediated single-base-pair editing identification of an intergenic mutation upstream of BUB1B as causative of PCS (MVA) syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ochiai H,
|
||
Miyamoto T,
|
||
Kanai A,
|
||
Hosoba K,
|
||
Sakuma T,
|
||
Kudo Y,
|
||
Asami K,
|
||
Ogawa A,
|
||
Watanabe A,
|
||
Kajii T,
|
||
Yamamoto T,
|
||
Matsuura S</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
2014 Jan 28;111(4):1461-6.
|
||
Epub 2013 Dec 16
|
||
doi: 10.1073/pnas.1317008111.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24344301" target="_blank">24344301</a><a href="/pmc/articles/PMC3910577" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23916859">Refractory infantile spasms associated with mosaic variegated aneuploidy syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akasaka N,
|
||
Tohyama J,
|
||
Ogawa A,
|
||
Takachi T,
|
||
Watanabe A,
|
||
Asami K</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2013 Nov;49(5):364-7.
|
||
Epub 2013 Aug 2
|
||
doi: 10.1016/j.pediatrneurol.2013.05.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23916859" target="_blank">23916859</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21389084">Insufficiency of BUBR1, a mitotic spindle checkpoint regulator, causes impaired ciliogenesis in vertebrates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miyamoto T,
|
||
Porazinski S,
|
||
Wang H,
|
||
Borovina A,
|
||
Ciruna B,
|
||
Shimizu A,
|
||
Kajii T,
|
||
Kikuchi A,
|
||
Furutani-Seiki M,
|
||
Matsuura S</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2011 May 15;20(10):2058-70.
|
||
Epub 2011 Mar 9
|
||
doi: 10.1093/hmg/ddr090.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21389084" target="_blank">21389084</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19690971">Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castronovo P,
|
||
Gervasini C,
|
||
Cereda A,
|
||
Masciadri M,
|
||
Milani D,
|
||
Russo S,
|
||
Selicorni A,
|
||
Larizza L</span><br />
|
||
<span class="medgenPMjournal">Chromosome Res</span>
|
||
2009;17(6):763-71.
|
||
Epub 2009 Aug 19
|
||
doi: 10.1007/s10577-009-9066-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19690971" target="_blank">19690971</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17540495">How safe is germinal vesicle stage oocyte rescue? Aneuploidy analysis of in vitro matured oocytes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vlaisavljević V,
|
||
Krizancić Bombek L,
|
||
Vokac NK,
|
||
Kovacic B,
|
||
Cizek-Sajko M</span><br />
|
||
<span class="medgenPMjournal">Eur J Obstet Gynecol Reprod Biol</span>
|
||
2007 Oct;134(2):213-9.
|
||
Epub 2007 May 30
|
||
doi: 10.1016/j.ejogrb.2007.03.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17540495" target="_blank">17540495</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Premature%20chromatid%20separation%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 (10)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39014450">BUB1B monoallelic germline variants contribute to prostate cancer predisposition by triggering chromosomal instability.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silva MP,
|
||
Ferreira LT,
|
||
Brás NF,
|
||
Torres L,
|
||
Brandão A,
|
||
Pinheiro M,
|
||
Cardoso M,
|
||
Resende A,
|
||
Vieira J,
|
||
Palmeira C,
|
||
Martins G,
|
||
Silva M,
|
||
Pinto C,
|
||
Peixoto A,
|
||
Silva J,
|
||
Henrique R,
|
||
Maia S,
|
||
Maiato H,
|
||
Teixeira MR,
|
||
Paulo P</span><br />
|
||
<span class="medgenPMjournal">J Biomed Sci</span>
|
||
2024 Jul 16;31(1):74.
|
||
doi: 10.1186/s12929-024-01056-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39014450" target="_blank">39014450</a><a href="/pmc/articles/PMC11251299" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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/29673003">Prenatal diagnosis of premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamaguchi T,
|
||
Yamaguchi M,
|
||
Akeno K,
|
||
Fujisaki M,
|
||
Sumiyoshi K,
|
||
Ohashi M,
|
||
Sameshima H,
|
||
Ozaki M,
|
||
Kato M,
|
||
Kato T,
|
||
Hosoba E,
|
||
Kurahashi H</span><br />
|
||
<span class="medgenPMjournal">J Obstet Gynaecol Res</span>
|
||
2018 Jul;44(7):1313-1317.
|
||
Epub 2018 Apr 19
|
||
doi: 10.1111/jog.13647.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29673003" target="_blank">29673003</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19690971">Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castronovo P,
|
||
Gervasini C,
|
||
Cereda A,
|
||
Masciadri M,
|
||
Milani D,
|
||
Russo S,
|
||
Selicorni A,
|
||
Larizza L</span><br />
|
||
<span class="medgenPMjournal">Chromosome Res</span>
|
||
2009;17(6):763-71.
|
||
Epub 2009 Aug 19
|
||
doi: 10.1007/s10577-009-9066-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19690971" target="_blank">19690971</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14559033">Genetic analysis of the oocyte--a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Plachot M</span><br />
|
||
<span class="medgenPMjournal">Placenta</span>
|
||
2003 Oct;24 Suppl B:S66-9.
|
||
doi: 10.1016/s0143-4004(03)00143-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14559033" target="_blank">14559033</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Premature%20chromatid%20separation%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 (11)</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/27527863">Radiation induces premature chromatid separation via the miR-142-3p/Bod1 pathway in carcinoma cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pan D,
|
||
Du Y,
|
||
Ren Z,
|
||
Chen Y,
|
||
Li X,
|
||
Wang J,
|
||
Hu B</span><br />
|
||
<span class="medgenPMjournal">Oncotarget</span>
|
||
2016 Sep 13;7(37):60432-60445.
|
||
doi: 10.18632/oncotarget.11080.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27527863" target="_blank">27527863</a><a href="/pmc/articles/PMC5312394" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19373780">Wilms tumor, AML and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sari N,
|
||
Akyuz C,
|
||
Aktas D,
|
||
Gumruk F,
|
||
Orhan D,
|
||
Alikasifoglu M,
|
||
Aydin B,
|
||
Alanay Y,
|
||
Buyukpamukcu M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
|
||
2009 Aug;53(2):208-10.
|
||
doi: 10.1002/pbc.21966.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19373780" target="_blank">19373780</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Premature%20chromatid%20separation%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<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,
|
||
Yamada A,
|
||
Kimoto Y,
|
||
Imamura H,
|
||
Ikeda T,
|
||
Matsukubo M,
|
||
Ieiri S,
|
||
Moritake H</span><br />
|
||
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
|
||
2019 Aug;66(8):e27804.
|
||
Epub 2019 May 13
|
||
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/23440991">Absence of aneuploidy and gastrointestinal tumours in a man with a chromosomal 2q13 deletion and BUB1 monoallelic deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoang D,
|
||
Sue GR,
|
||
Xu F,
|
||
Li P,
|
||
Narayan D</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2013 Feb 25;2013
|
||
doi: 10.1136/bcr-2013-008684.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23440991" target="_blank">23440991</a><a href="/pmc/articles/PMC3604111" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19646878">Ska3 is required for spindle checkpoint silencing and the maintenance of chromosome cohesion in mitosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daum JR,
|
||
Wren JD,
|
||
Daniel JJ,
|
||
Sivakumar S,
|
||
McAvoy JN,
|
||
Potapova TA,
|
||
Gorbsky GJ</span><br />
|
||
<span class="medgenPMjournal">Curr Biol</span>
|
||
2009 Sep 15;19(17):1467-72.
|
||
Epub 2009 Jul 30
|
||
doi: 10.1016/j.cub.2009.07.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19646878" target="_blank">19646878</a><a href="/pmc/articles/PMC2783354" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11746029">Cancer-prone syndrome of mosaic variegated aneuploidy and total premature chromatid separation: report of five infants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kajii T,
|
||
Ikeuchi T,
|
||
Yang ZQ,
|
||
Nakamura Y,
|
||
Tsuji Y,
|
||
Yokomori K,
|
||
Kawamura M,
|
||
Fukuda S,
|
||
Horita S,
|
||
Asamoto A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
2001 Nov 15;104(1):57-64.
|
||
doi: 10.1002/ajmg.1580.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11746029" target="_blank">11746029</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9677059">Mosaic variegated aneuploidy with multiple congenital abnormalities: homozygosity for total premature chromatid separation trait.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kajii T,
|
||
Kawai T,
|
||
Takumi T,
|
||
Misu H,
|
||
Mabuchi O,
|
||
Takahashi Y,
|
||
Tachino M,
|
||
Nihei F,
|
||
Ikeuchi T</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1998 Jul 7;78(3):245-9.
|
||
doi: 10.1002/(sici)1096-8628(19980707)78:3<245::aid-ajmg7>3.0.co;2-o.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9677059" target="_blank">9677059</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Premature%20chromatid%20separation%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27936973">Premature chromatid separation and altered proliferation of human leukocytes treated with vanadium (III) oxide.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mateos-Nava RA,
|
||
Rodríguez-Mercado JJ,
|
||
Altamirano-Lozano MA</span><br />
|
||
<span class="medgenPMjournal">Drug Chem Toxicol</span>
|
||
2017 Oct;40(4):457-462.
|
||
Epub 2016 Dec 12
|
||
doi: 10.1080/01480545.2016.1260582.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27936973" target="_blank">27936973</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19690971">Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castronovo P,
|
||
Gervasini C,
|
||
Cereda A,
|
||
Masciadri M,
|
||
Milani D,
|
||
Russo S,
|
||
Selicorni A,
|
||
Larizza L</span><br />
|
||
<span class="medgenPMjournal">Chromosome Res</span>
|
||
2009;17(6):763-71.
|
||
Epub 2009 Aug 19
|
||
doi: 10.1007/s10577-009-9066-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19690971" target="_blank">19690971</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19646878">Ska3 is required for spindle checkpoint silencing and the maintenance of chromosome cohesion in mitosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daum JR,
|
||
Wren JD,
|
||
Daniel JJ,
|
||
Sivakumar S,
|
||
McAvoy JN,
|
||
Potapova TA,
|
||
Gorbsky GJ</span><br />
|
||
<span class="medgenPMjournal">Curr Biol</span>
|
||
2009 Sep 15;19(17):1467-72.
|
||
Epub 2009 Jul 30
|
||
doi: 10.1016/j.cub.2009.07.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19646878" target="_blank">19646878</a><a href="/pmc/articles/PMC2783354" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19332642">Deregulated Aurora-B induced tetraploidy promotes tumorigenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen HG,
|
||
Makitalo M,
|
||
Yang D,
|
||
Chinnappan D,
|
||
St Hilaire C,
|
||
Ravid K</span><br />
|
||
<span class="medgenPMjournal">FASEB J</span>
|
||
2009 Aug;23(8):2741-8.
|
||
Epub 2009 Mar 30
|
||
doi: 10.1096/fj.09-130963.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19332642" target="_blank">19332642</a><a href="/pmc/articles/PMC2717782" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18548531">Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: delineation of clinical subtypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">García-Castillo H,
|
||
Vásquez-Velásquez AI,
|
||
Rivera H,
|
||
Barros-Núñez P</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2008 Jul 1;146A(13):1687-95.
|
||
doi: 10.1002/ajmg.a.32315.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18548531" target="_blank">18548531</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Premature%20chromatid%20separation%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 (12)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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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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