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<meta name="keywords" content="C4551705, abnormality of chromosome stability, cell or molecular dysfunction, 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="A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=1631925
ConceptID=C4551705
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of chromosome stability</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1631925</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)&#10;Click for more information.">C4551705</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>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003220">HP:0003220</a></td></tr>
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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">A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration. [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="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=C4551705[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1631925">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 unavailable" title="ClinVar">V</span></span><span class="TLline">Abnormality of chromosome stability</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1369113" ref="tree=MeSH" title="MedGen record for Abnormal cellular phenotype">Abnormal cellular phenotype</a></span><ul><li><span class="TLline"><a href="/medgen/869173" ref="tree=MeSH" title="MedGen record for Abnormal cellular physiology">Abnormal cellular physiology</a></span><ul><li><span class="matched_ds">Abnormality of chromosome stability</span><ul><li><span class="TLline"><a href="/medgen/91280" ref="tree=MeSH" title="MedGen record for Chromosome breakage">Chromosome breakage</a></span><ul><li><span class="TLline"><a href="/medgen/867372" ref="tree=MeSH" title="MedGen record for Chromosomal breakage induced by crosslinking agents">Chromosomal breakage induced by crosslinking agents</a></span></li><li><span class="TLline"><a href="/medgen/866851" ref="tree=MeSH" title="MedGen record for Chromosomal breakage induced by ionizing radiation">Chromosomal breakage induced by ionizing radiation</a></span></li><li><span class="TLline"><a href="/medgen/326579" ref="tree=MeSH" title="MedGen record for Folate-dependent fragile site at Xq28">Folate-dependent fragile site at Xq28</a></span></li><li><span class="TLline"><a href="/medgen/890368" ref="tree=MeSH" title="MedGen record for Large-Scale State Transition">Large-Scale State Transition</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869182" ref="tree=MeSH" title="MedGen record for Increased susceptibility to spontaneous sister chromatid exchange">Increased susceptibility to spontaneous sister chromatid exchange</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
<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>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_2685"><div><strong>Bloom syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2685</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)&#10;Click for more information."><span class="highlight" style="background-color:">C0005859</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Bloom syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. Despite their very small head circumference, most affected individuals have normal intellectual ability. Women may be fertile but often have early menopause, and men tend to be infertile, with only one confirmed case of paternity. Serious medical complications that are more common than in the general population and that also appear at unusually early ages include cancer of a wide variety of types and anatomic sites, diabetes mellitus as a result of insulin resistance, chronic obstructive pulmonary disease, and hypothyroidism.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2685">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_336901"><div><strong>Fanconi anemia complementation group B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336901</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)&#10;Click for more information.">C1845292</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors particularly of the head and neck, skin, and genitourinary tract are more common in individuals with FA.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/336901">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_356661"><div><strong>Scleroderma, familial progressive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356661</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)&#10;Click for more information.">C1866983</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Systemic sclerosis is a clinically heterogeneous connective tissue disorder characterized by immune activation, vascular damage, and fibrosis of the skin and major internal organs. Clinical and experimental data suggest that the disorder is multifactorial, involving both genetic and environmental factors (Fonseca et al., 2007).&#13; Gabrielli et al. (2009) provided a detailed review of scleroderma, including clinical manifestations and pathophysiology.&#13; See also Reynolds syndrome (613471), which shares some clinical features with scleroderma and CREST syndrome.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/356661">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_419040"><div><strong>Intrauterine growth retardation with increased mitomycin c sensitivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419040</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)&#10;Click for more information.">C2931307</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/419040">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_424834"><div><strong>N syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>424834</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)&#10;Click for more information.">C2936859</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Syndrome that is characterized by intellectual deficit, deafness, ocular anomalies, T-cell leukemia, cryptorchidism, hypospadias and spasticity. Mutations in DNA polymerase alpha, leading to increased chromosome breakage, may be responsible for the syndrome. X-linked recessive transmission has been proposed.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/424834">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_854017"><div><strong>Fanconi anemia complementation group G</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854017</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)&#10;Click for more information.">C3469527</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors particularly of the head and neck, skin, and genitourinary tract are more common in individuals with FA.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/854017">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1824040"><div><strong>Mosaic variegated aneuploidy syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824040</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)&#10;Click for more information.">C5774267</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Mosaic variegated aneuploidy syndrome-4 (MVA4) is an autosomal recessive disorder resulting from errors in chromosome segregation. In addition to mosaic aneuploidy, patients have microcephaly, mild developmental delay, and mild maculopathy (de Wolf et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1824040">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_2685" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bloom syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336901" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group B</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854017" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi anemia complementation group G</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419040" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intrauterine growth retardation with increased mitomycin c sensitivity</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824040" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mosaic variegated aneuploidy syndrome 4</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_424834" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">N syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356661" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scleroderma, familial progressive</a></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/33213339">Target Genetic Abnormalities for the Treatment of Colon Cancer and Its Progression to Metastasis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baviskar T,
Momin M,
Liu J,
Guo B,
Bhatt L</span><br />
<span class="medgenPMjournal">Curr Drug Targets</span>
2021;22(7):722-733.
doi: 10.2174/1389450121666201119141015.
<span class="bold">PMID: </span><a href="/pubmed/33213339" target="_blank">33213339</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33079159">Medical Care of Adults With Down Syndrome: A Clinical Guideline.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tsou AY,
Bulova P,
Capone G,
Chicoine B,
Gelaro B,
Harville TO,
Martin BA,
McGuire DE,
McKelvey KD,
Peterson M,
Tyler C,
Wells M,
Whitten MS;
Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome Workgroup</span><br />
<span class="medgenPMjournal">JAMA</span>
2020 Oct 20;324(15):1543-1556.
doi: 10.1001/jama.2020.17024.
<span class="bold">PMID: </span><a href="/pubmed/33079159" target="_blank">33079159</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28760306">High-risk Multiple Myeloma: Definition and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Joseph NS,
Gentili S,
Kaufman JL,
Lonial S,
Nooka AK</span><br />
<span class="medgenPMjournal">Clin Lymphoma Myeloma Leuk</span>
2017 Jul;17S:S80-S87.
doi: 10.1016/j.clml.2017.02.018.
<span class="bold">PMID: </span><a href="/pubmed/28760306" target="_blank">28760306</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20chromosome%20stability)%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 (39)</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/34801142">Neurosurgical Evaluation and Management of Patients with Chromosomal Abnormalities.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stadler JA 3rd</span><br />
<span class="medgenPMjournal">Neurosurg Clin N Am</span>
2022 Jan;33(1):61-65.
Epub 2021 Oct 27
doi: 10.1016/j.nec.2021.09.012.
<span class="bold">PMID: </span><a href="/pubmed/34801142" target="_blank">34801142</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33079159">Medical Care of Adults With Down Syndrome: A Clinical Guideline.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tsou AY,
Bulova P,
Capone G,
Chicoine B,
Gelaro B,
Harville TO,
Martin BA,
McGuire DE,
McKelvey KD,
Peterson M,
Tyler C,
Wells M,
Whitten MS;
Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome Workgroup</span><br />
<span class="medgenPMjournal">JAMA</span>
2020 Oct 20;324(15):1543-1556.
doi: 10.1001/jama.2020.17024.
<span class="bold">PMID: </span><a href="/pubmed/33079159" target="_blank">33079159</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31540807">The Etiology of Peyronie's Disease: Pathogenesis and Genetic Contributions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sharma KL,
Alom M,
Trost L</span><br />
<span class="medgenPMjournal">Sex Med Rev</span>
2020 Apr;8(2):314-323.
Epub 2019 Sep 17
doi: 10.1016/j.sxmr.2019.06.004.
<span class="bold">PMID: </span><a href="/pubmed/31540807" target="_blank">31540807</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18978745">HSCT for Fanconi anemia in children: factors that influence early and late results.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dalle JH</span><br />
<span class="medgenPMjournal">Bone Marrow Transplant</span>
2008 Oct;42 Suppl 2:S51-3.
doi: 10.1038/bmt.2008.284.
<span class="bold">PMID: </span><a href="/pubmed/18978745" target="_blank">18978745</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14707715">Medulloblastoma as a first presentation of fanconi anemia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tischkowitz MD,
Chisholm J,
Gaze M,
Michalski A,
Rosser EM</span><br />
<span class="medgenPMjournal">J Pediatr Hematol Oncol</span>
2004 Jan;26(1):52-5.
doi: 10.1097/00043426-200401000-00016.
<span class="bold">PMID: </span><a href="/pubmed/14707715" target="_blank">14707715</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20chromosome%20stability%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 (644)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/33079159">Medical Care of Adults With Down Syndrome: A Clinical Guideline.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tsou AY,
Bulova P,
Capone G,
Chicoine B,
Gelaro B,
Harville TO,
Martin BA,
McGuire DE,
McKelvey KD,
Peterson M,
Tyler C,
Wells M,
Whitten MS;
Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome Workgroup</span><br />
<span class="medgenPMjournal">JAMA</span>
2020 Oct 20;324(15):1543-1556.
doi: 10.1001/jama.2020.17024.
<span class="bold">PMID: </span><a href="/pubmed/33079159" target="_blank">33079159</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31704779">Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sarogni P,
Pallotta MM,
Musio A</span><br />
<span class="medgenPMjournal">J Med Genet</span>
2020 May;57(5):289-295.
Epub 2019 Nov 8
doi: 10.1136/jmedgenet-2019-106277.
<span class="bold">PMID: </span><a href="/pubmed/31704779" target="_blank">31704779</a><a href="/pmc/articles/PMC7231464" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31537806">Chromosome instability syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Taylor AMR,
Rothblum-Oviatt C,
Ellis NA,
Hickson ID,
Meyer S,
Crawford TO,
Smogorzewska A,
Pietrucha B,
Weemaes C,
Stewart GS</span><br />
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
2019 Sep 19;5(1):64.
doi: 10.1038/s41572-019-0113-0.
<span class="bold">PMID: </span><a href="/pubmed/31537806" target="_blank">31537806</a><a href="/pmc/articles/PMC10617425" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8929954">Nijmegen breakage syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">van der Burgt I,
Chrzanowska KH,
Smeets D,
Weemaes C</span><br />
<span class="medgenPMjournal">J Med Genet</span>
1996 Feb;33(2):153-6.
doi: 10.1136/jmg.33.2.153.
<span class="bold">PMID: </span><a href="/pubmed/8929954" target="_blank">8929954</a><a href="/pmc/articles/PMC1051843" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3295158">Fragile X syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chudley AE,
Hagerman RJ</span><br />
<span class="medgenPMjournal">J Pediatr</span>
1987 Jun;110(6):821-31.
doi: 10.1016/s0022-3476(87)80392-x.
<span class="bold">PMID: </span><a href="/pubmed/3295158" target="_blank">3295158</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20chromosome%20stability%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 (654)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/32805281">The Long Noncoding RNA CCAT2 Induces Chromosomal Instability Through BOP1-AURKB Signaling.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chen B,
Dragomir MP,
Fabris L,
Bayraktar R,
Knutsen E,
Liu X,
Tang C,
Li Y,
Shimura T,
Ivkovic TC,
De Los Santos MC,
Anfossi S,
Shimizu M,
Shah MY,
Ling H,
Shen P,
Multani AS,
Pardini B,
Burks JK,
Katayama H,
Reineke LC,
Huo L,
Syed M,
Song S,
Ferracin M,
Oki E,
Fromm B,
Ivan C,
Bhuvaneshwar K,
Gusev Y,
Mimori K,
Menter D,
Sen S,
Matsuyama T,
Uetake H,
Vasilescu C,
Kopetz S,
Parker-Thornburg J,
Taguchi A,
Hanash SM,
Girnita L,
Slaby O,
Goel A,
Varani G,
Gagea M,
Li C,
Ajani JA,
Calin GA</span><br />
<span class="medgenPMjournal">Gastroenterology</span>
2020 Dec;159(6):2146-2162.e33.
Epub 2020 Aug 15
doi: 10.1053/j.gastro.2020.08.018.
<span class="bold">PMID: </span><a href="/pubmed/32805281" target="_blank">32805281</a><a href="/pmc/articles/PMC7725986" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29141972">Epigenetic Regulation of Centromere Chromatin Stability by Dietary and Environmental Factors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hernández-Saavedra D,
Strakovsky RS,
Ostrosky-Wegman P,
Pan YX</span><br />
<span class="medgenPMjournal">Adv Nutr</span>
2017 Nov;8(6):889-904.
Epub 2017 Nov 15
doi: 10.3945/an.117.016402.
<span class="bold">PMID: </span><a href="/pubmed/29141972" target="_blank">29141972</a><a href="/pmc/articles/PMC5683002" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28760306">High-risk Multiple Myeloma: Definition and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Joseph NS,
Gentili S,
Kaufman JL,
Lonial S,
Nooka AK</span><br />
<span class="medgenPMjournal">Clin Lymphoma Myeloma Leuk</span>
2017 Jul;17S:S80-S87.
doi: 10.1016/j.clml.2017.02.018.
<span class="bold">PMID: </span><a href="/pubmed/28760306" target="_blank">28760306</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25328138">Topoisomerase IIα in chromosome instability and personalized cancer therapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chen T,
Sun Y,
Ji P,
Kopetz S,
Zhang W</span><br />
<span class="medgenPMjournal">Oncogene</span>
2015 Jul 30;34(31):4019-31.
Epub 2014 Oct 20
doi: 10.1038/onc.2014.332.
<span class="bold">PMID: </span><a href="/pubmed/25328138" target="_blank">25328138</a><a href="/pmc/articles/PMC4404185" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16169148">Abnormal folate metabolism in mothers with Down syndrome offspring: review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Eskes TK</span><br />
<span class="medgenPMjournal">Eur J Obstet Gynecol Reprod Biol</span>
2006 Feb 1;124(2):130-3.
Epub 2005 Oct 5
doi: 10.1016/j.ejogrb.2005.07.028.
<span class="bold">PMID: </span><a href="/pubmed/16169148" target="_blank">16169148</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20chromosome%20stability%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 (215)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38175717">Single-cell DNA sequencing reveals a high incidence of chromosomal abnormalities in human blastocysts.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chavli EA,
Klaasen SJ,
Van Opstal D,
Laven JS,
Kops GJ,
Baart EB</span><br />
<span class="medgenPMjournal">J Clin Invest</span>
2024 Jan 4;134(6)
doi: 10.1172/JCI174483.
<span class="bold">PMID: </span><a href="/pubmed/38175717" target="_blank">38175717</a><a href="/pmc/articles/PMC10940095" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38012214">Knockdown of TACC3 inhibits tumor cell proliferation and increases chemosensitivity in pancreatic cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shi S,
Guo D,
Ye L,
Li T,
Fei Q,
Lin M,
Yu X,
Jin K,
Wu W</span><br />
<span class="medgenPMjournal">Cell Death Dis</span>
2023 Nov 27;14(11):778.
doi: 10.1038/s41419-023-06313-x.
<span class="bold">PMID: </span><a href="/pubmed/38012214" target="_blank">38012214</a><a href="/pmc/articles/PMC10682013" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37516809">Cyclers' kinases in cell division: from molecules to cancer therapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Milletti G,
Colicchia V,
Cecconi F</span><br />
<span class="medgenPMjournal">Cell Death Differ</span>
2023 Sep;30(9):2035-2052.
Epub 2023 Jul 29
doi: 10.1038/s41418-023-01196-z.
<span class="bold">PMID: </span><a href="/pubmed/37516809" target="_blank">37516809</a><a href="/pmc/articles/PMC10482880" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33144689">Clear cell renal cell carcinoma ontogeny and mechanisms of lethality.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jonasch E,
Walker CL,
Rathmell WK</span><br />
<span class="medgenPMjournal">Nat Rev Nephrol</span>
2021 Apr;17(4):245-261.
Epub 2020 Nov 3
doi: 10.1038/s41581-020-00359-2.
<span class="bold">PMID: </span><a href="/pubmed/33144689" target="_blank">33144689</a><a href="/pmc/articles/PMC8172121" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30193109">The Multifaceted Role of Chromosomal Instability in Cancer and Its Microenvironment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bakhoum SF,
Cantley LC</span><br />
<span class="medgenPMjournal">Cell</span>
2018 Sep 6;174(6):1347-1360.
doi: 10.1016/j.cell.2018.08.027.
<span class="bold">PMID: </span><a href="/pubmed/30193109" target="_blank">30193109</a><a href="/pmc/articles/PMC6136429" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20chromosome%20stability%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 (386)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38175717">Single-cell DNA sequencing reveals a high incidence of chromosomal abnormalities in human blastocysts.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chavli EA,
Klaasen SJ,
Van Opstal D,
Laven JS,
Kops GJ,
Baart EB</span><br />
<span class="medgenPMjournal">J Clin Invest</span>
2024 Jan 4;134(6)
doi: 10.1172/JCI174483.
<span class="bold">PMID: </span><a href="/pubmed/38175717" target="_blank">38175717</a><a href="/pmc/articles/PMC10940095" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37286593">Epigenetic dysregulation from chromosomal transit in micronuclei.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Agustinus AS,
Al-Rawi D,
Dameracharla B,
Raviram R,
Jones BSCL,
Stransky S,
Scipioni L,
Luebeck J,
Di Bona M,
Norkunaite D,
Myers RM,
Duran M,
Choi S,
Weigelt B,
Yomtoubian S,
McPherson A,
Toufektchan E,
Keuper K,
Mischel PS,
Mittal V,
Shah SP,
Maciejowski J,
Storchova Z,
Gratton E,
Ly P,
Landau D,
Bakhoum MF,
Koche RP,
Sidoli S,
Bafna V,
David Y,
Bakhoum SF</span><br />
<span class="medgenPMjournal">Nature</span>
2023 Jul;619(7968):176-183.
Epub 2023 Jun 7
doi: 10.1038/s41586-023-06084-7.
<span class="bold">PMID: </span><a href="/pubmed/37286593" target="_blank">37286593</a><a href="/pmc/articles/PMC10322720" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27013377">Mechanisms and consequences of aneuploidy and chromosome instability in the aging brain.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Andriani GA,
Vijg J,
Montagna C</span><br />
<span class="medgenPMjournal">Mech Ageing Dev</span>
2017 Jan;161(Pt A):19-36.
Epub 2016 Mar 21
doi: 10.1016/j.mad.2016.03.007.
<span class="bold">PMID: </span><a href="/pubmed/27013377" target="_blank">27013377</a><a href="/pmc/articles/PMC5490080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20420946">The chromosomal instability pathway in colon cancer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pino MS,
Chung DC</span><br />
<span class="medgenPMjournal">Gastroenterology</span>
2010 Jun;138(6):2059-72.
doi: 10.1053/j.gastro.2009.12.065.
<span class="bold">PMID: </span><a href="/pubmed/20420946" target="_blank">20420946</a><a href="/pmc/articles/PMC4243705" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Emanuel BS,
Shaikh TH</span><br />
<span class="medgenPMjournal">Nat Rev Genet</span>
2001 Oct;2(10):791-800.
doi: 10.1038/35093500.
<span class="bold">PMID: </span><a href="/pubmed/11584295" target="_blank">11584295</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20chromosome%20stability%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 (780)</a></div></div>
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Smith P,
Morgan NV,
Coomarasamy A,
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2019 Jul 1;25(4):452-472.
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<div class="nl"><a target="_blank" href="/pubmed/29803742">Total hip arthroplasty in patients with Trisomy 21: Systematic review and exploratory patient level analysis.</a></div>
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doi: 10.1016/j.surge.2018.04.008.
<span class="bold">PMID: </span><a href="/pubmed/29803742" target="_blank">29803742</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12557225">Molecular cytogenetic characterization of Sézary syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mao X,
Lillington DM,
Czepulkowski B,
Russell-Jones R,
Young BD,
Whittaker S</span><br />
<span class="medgenPMjournal">Genes Chromosomes Cancer</span>
2003 Mar;36(3):250-60.
doi: 10.1002/gcc.10152.
<span class="bold">PMID: </span><a href="/pubmed/12557225" target="_blank">12557225</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20chromosome%20stability%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
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