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<meta name="keywords" content="C0432412, cell or molecular dysfunction, chromosome 8 duplication, chromosome 8, trisomy, tri8, trisomy 8, 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 chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=98158
ConceptID=C0432412
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Trisomy 8</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98158</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.">C0432412</a></dd><dt><span class="dotprefix"></span></dt><dd>Cell or Molecular Dysfunction</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Chromosome 8 duplication; Chromosome 8, trisomy</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Trisomy 8 (205649008)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0043452" target="_blank">MONDO:0043452</a></td></tr>
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_100">
<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 chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0008626[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=3441">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0008626[DISCUI]&amp;test_type=Research" ref="ncbi_uid=3441">R</a></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"><a href="/medgen/3441" ref="tree=GTR&amp;ncbi_uid=3441&amp;link_uid=3441" title="View MedGen record for 'Congenital chromosomal disease'">Congenital chromosomal disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</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"><a href="/medgen/1843454" ref="tree=GTR&amp;ncbi_uid=1843454&amp;link_uid=1843454" title="View MedGen record for 'Autosomal anomaly'">Autosomal anomaly</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN293936[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=977694">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"><a href="/medgen/977694" ref="tree=GTR&amp;ncbi_uid=977694&amp;link_uid=977694" title="View MedGen record for 'Autosomal monosomy'">Autosomal monosomy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0035639[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=11248">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"><a href="/medgen/11248" ref="tree=GTR&amp;ncbi_uid=11248&amp;link_uid=11248" title="View MedGen record for 'Ring chromosome'">Ring chromosome</a></span></li></ul></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0969687[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=199033">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0969687[DISCUI]&amp;test_type=Research&amp;redirect=true" ref="ncbi_uid=199033">R</a></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"><a href="/medgen/199033" ref="tree=GTR&amp;ncbi_uid=199033&amp;link_uid=199033" title="View MedGen record for 'Autosomal chromosomal disorder'">Autosomal chromosomal disorder</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0795849[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=162780">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"><a href="/medgen/162780" ref="tree=GTR&amp;ncbi_uid=162780&amp;link_uid=162780" title="View MedGen record for 'Chromosome 13q trisomy'">Chromosome 13q trisomy</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=C0795807[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=167068">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"><a href="/medgen/167068" ref="tree=GTR&amp;ncbi_uid=167068&amp;link_uid=167068" title="View MedGen record for 'Chromosome 3, trisomy 3p'">Chromosome 3, trisomy 3p</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=C2931575[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=419839">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"><a href="/medgen/419839" ref="tree=GTR&amp;ncbi_uid=419839&amp;link_uid=419839" title="View MedGen record for 'Chromosome 5, trisomy 5p'">Chromosome 5, trisomy 5p</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=C0152095[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=56261">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&amp;from_uid=56261" ref="ncbi_uid=56261">V</a></span></span><span class="TLline"><a href="/medgen/56261" ref="tree=GTR&amp;ncbi_uid=56261&amp;link_uid=56261" title="View MedGen record for 'Complete trisomy 13 syndrome'">Complete trisomy 13 syndrome</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=C0265479[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=120542">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"><a href="/medgen/120542" ref="tree=GTR&amp;ncbi_uid=120542&amp;link_uid=120542" title="View MedGen record for 'Complete trisomy 20 syndrome'">Complete trisomy 20 syndrome</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=C0013080[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=4385">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0013080[DISCUI]&amp;test_type=Research&amp;redirect=true" ref="ncbi_uid=4385">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=4385" target="_blank" href="/omim/190685">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&amp;from_uid=4385" ref="ncbi_uid=4385">V</a></span></span><span class="TLline"><a href="/medgen/4385" ref="tree=GTR&amp;ncbi_uid=4385&amp;link_uid=4385" title="View MedGen record for 'Down syndrome'">Down syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</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"><a href="/medgen/693553" ref="tree=GTR&amp;ncbi_uid=693553&amp;link_uid=693553" title="View MedGen record for 'Translocation Down syndrome'">Translocation Down syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</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"><a href="/medgen/760825" ref="tree=GTR&amp;ncbi_uid=760825&amp;link_uid=760825" title="View MedGen record for 'Trisomy 21'">Trisomy 21</a></span></li></ul></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0432412[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=98158">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">Trisomy 8</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4317091[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1384417">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&amp;from_uid=1384417" ref="ncbi_uid=1384417">V</a></span></span><span class="TLline"><a href="/medgen/1384417" ref="tree=GTR&amp;ncbi_uid=1384417&amp;link_uid=1384417" title="View MedGen record for 'Trisomy 18'">Trisomy 18</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</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"><a href="/medgen/988614" ref="tree=GTR&amp;ncbi_uid=988614&amp;link_uid=988614" title="View MedGen record for 'Ring chromosome anomaly'">Ring chromosome anomaly</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=C0949683[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=183658">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"><a href="/medgen/183658" ref="tree=GTR&amp;ncbi_uid=183658&amp;link_uid=183658" title="View MedGen record for 'Sex-linked hereditary disorder'">Sex-linked hereditary disorder</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/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/3441" ref="tree=MeSH" title="MedGen record for Congenital chromosomal disease">Congenital chromosomal disease</a></span><ul><li><span class="TLline"><a href="/medgen/199033" ref="tree=MeSH" title="MedGen record for Autosomal chromosomal disorder">Autosomal chromosomal disorder</a></span><ul><li><span class="matched_ds">Trisomy 8</span></li></ul></li></ul></li></ul></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/37934881">Characteristics, primary treatment, and survival of MDS/MPN with neutrophilia: a population-based study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Klein SK,
Huls GA,
Visser O,
Kluin-Nelemans HC,
Dinmohamed AG</span><br />
<span class="medgenPMjournal">Blood Adv</span>
2023 Dec 26;7(24):7554-7563.
doi: 10.1182/bloodadvances.2023011181.
<span class="bold">PMID: </span><a href="/pubmed/37934881" target="_blank">37934881</a><a href="/pmc/articles/PMC10761362" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25931274">Impact of trisomy 8 on treatment response and survival of patients with chronic myelogenous leukemia in the era of tyrosine kinase inhibitors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang W,
Cortes JE,
Lin P,
Khoury JD,
Ai D,
Tang Z,
Tang G,
Jorgensen JL,
Medeiros LJ,
Hu S</span><br />
<span class="medgenPMjournal">Leukemia</span>
2015 Nov;29(11):2263-6.
Epub 2015 Apr 14
doi: 10.1038/leu.2015.96.
<span class="bold">PMID: </span><a href="/pubmed/25931274" target="_blank">25931274</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24883128">Diagnosis and management of intestinal Behçet's disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hisamatsu T,
Naganuma M,
Matsuoka K,
Kanai T</span><br />
<span class="medgenPMjournal">Clin J Gastroenterol</span>
2014 Jun;7(3):205-12.
Epub 2014 Apr 20
doi: 10.1007/s12328-014-0488-0.
<span class="bold">PMID: </span><a href="/pubmed/24883128" target="_blank">24883128</a><a href="/pmc/articles/PMC4037558" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22trisomy%208%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 (30)</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/31422708">Trisomy 8 in acute myeloid leukemia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hemsing AL,
Hovland R,
Tsykunova G,
Reikvam H</span><br />
<span class="medgenPMjournal">Expert Rev Hematol</span>
2019 Nov;12(11):947-958.
Epub 2019 Sep 26
doi: 10.1080/17474086.2019.1657400.
<span class="bold">PMID: </span><a href="/pubmed/31422708" target="_blank">31422708</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31093808">Genetic abnormalities and pathophysiology of MDS.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hosono N</span><br />
<span class="medgenPMjournal">Int J Clin Oncol</span>
2019 Aug;24(8):885-892.
Epub 2019 May 15
doi: 10.1007/s10147-019-01462-6.
<span class="bold">PMID: </span><a href="/pubmed/31093808" target="_blank">31093808</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28643018">Heterogeneity of GATA2-related myeloid neoplasms.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hirabayashi S,
Wlodarski MW,
Kozyra E,
Niemeyer CM</span><br />
<span class="medgenPMjournal">Int J Hematol</span>
2017 Aug;106(2):175-182.
Epub 2017 Jun 22
doi: 10.1007/s12185-017-2285-2.
<span class="bold">PMID: </span><a href="/pubmed/28643018" target="_blank">28643018</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23912822">Childhood myelodysplastic syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chatterjee T,
Choudhry VP</span><br />
<span class="medgenPMjournal">Indian J Pediatr</span>
2013 Sep;80(9):764-71.
Epub 2013 Aug 3
doi: 10.1007/s12098-013-1130-8.
<span class="bold">PMID: </span><a href="/pubmed/23912822" target="_blank">23912822</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11640868">Myeloproliferative disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bench AJ,
Cross NC,
Huntly BJ,
Nacheva EP,
Green AR</span><br />
<span class="medgenPMjournal">Best Pract Res Clin Haematol</span>
2001 Sep;14(3):531-51.
doi: 10.1053/beha.2001.0153.
<span class="bold">PMID: </span><a href="/pubmed/11640868" target="_blank">11640868</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trisomy%208%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 (367)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/32756940">Hepatosplenic T-cell lymphoma: a rare but challenging entity.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pro B,
Allen P,
Behdad A</span><br />
<span class="medgenPMjournal">Blood</span>
2020 Oct 29;136(18):2018-2026.
doi: 10.1182/blood.2019004118.
<span class="bold">PMID: </span><a href="/pubmed/32756940" target="_blank">32756940</a><a href="/pmc/articles/PMC7596851" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30840960">Myeloid Sarcoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Magdy M,
Abdel Karim N,
Eldessouki I,
Gaber O,
Rahouma M,
Ghareeb M</span><br />
<span class="medgenPMjournal">Oncol Res Treat</span>
2019;42(4):224-229.
Epub 2019 Mar 6
doi: 10.1159/000497210.
<span class="bold">PMID: </span><a href="/pubmed/30840960" target="_blank">30840960</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30055055">Aplastic anemia: Etiology, molecular pathogenesis, and emerging concepts.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shallis RM,
Ahmad R,
Zeidan AM</span><br />
<span class="medgenPMjournal">Eur J Haematol</span>
2018 Dec;101(6):711-720.
Epub 2018 Oct 10
doi: 10.1111/ejh.13153.
<span class="bold">PMID: </span><a href="/pubmed/30055055" target="_blank">30055055</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24883128">Diagnosis and management of intestinal Behçet's disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hisamatsu T,
Naganuma M,
Matsuoka K,
Kanai T</span><br />
<span class="medgenPMjournal">Clin J Gastroenterol</span>
2014 Jun;7(3):205-12.
Epub 2014 Apr 20
doi: 10.1007/s12328-014-0488-0.
<span class="bold">PMID: </span><a href="/pubmed/24883128" target="_blank">24883128</a><a href="/pmc/articles/PMC4037558" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4129791">Trisomy 8.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Atkins L,
Holmes LB,
Riccardi VM</span><br />
<span class="medgenPMjournal">J Pediatr</span>
1974 Feb;84(2):302-3.
doi: 10.1016/s0022-3476(74)80631-1.
<span class="bold">PMID: </span><a href="/pubmed/4129791" target="_blank">4129791</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trisomy%208%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 (521)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/32397113">Identification of Lenalidomide Sensitivity and Resistance Mechanisms in Non-Del(5q) Myelodysplastic Syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Drusbosky LM,
Cogle CR</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2020 May 8;21(9)
doi: 10.3390/ijms21093323.
<span class="bold">PMID: </span><a href="/pubmed/32397113" target="_blank">32397113</a><a href="/pmc/articles/PMC7246771" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30840960">Myeloid Sarcoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Magdy M,
Abdel Karim N,
Eldessouki I,
Gaber O,
Rahouma M,
Ghareeb M</span><br />
<span class="medgenPMjournal">Oncol Res Treat</span>
2019;42(4):224-229.
Epub 2019 Mar 6
doi: 10.1159/000497210.
<span class="bold">PMID: </span><a href="/pubmed/30840960" target="_blank">30840960</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29474736">Gastrointestinal Behçet's disease: periodic fever, multiple ulcers and trisomy 8 in elderly man.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Awaji K,
Inokuchi R,
Maehara H,
Moriyama M,
Ohmae T,
Okamoto M,
Suyama Y</span><br />
<span class="medgenPMjournal">QJM</span>
2018 Aug 1;111(8):579-580.
doi: 10.1093/qjmed/hcy041.
<span class="bold">PMID: </span><a href="/pubmed/29474736" target="_blank">29474736</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24883128">Diagnosis and management of intestinal Behçet's disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hisamatsu T,
Naganuma M,
Matsuoka K,
Kanai T</span><br />
<span class="medgenPMjournal">Clin J Gastroenterol</span>
2014 Jun;7(3):205-12.
Epub 2014 Apr 20
doi: 10.1007/s12328-014-0488-0.
<span class="bold">PMID: </span><a href="/pubmed/24883128" target="_blank">24883128</a><a href="/pmc/articles/PMC4037558" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24037237">Behçet's disease-like symptoms associated with myelodysplastic syndrome with trisomy 8: a case report and review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Koguchi-Yoshioka H,
Inokuma D,
Kanda M,
Kondo M,
Kikuchi K,
Shimizu S</span><br />
<span class="medgenPMjournal">Acta Derm Venereol</span>
2014 May;94(3):355-6.
doi: 10.2340/00015555-1706.
<span class="bold">PMID: </span><a href="/pubmed/24037237" target="_blank">24037237</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trisomy%208%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 (211)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/32756940">Hepatosplenic T-cell lymphoma: a rare but challenging entity.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pro B,
Allen P,
Behdad A</span><br />
<span class="medgenPMjournal">Blood</span>
2020 Oct 29;136(18):2018-2026.
doi: 10.1182/blood.2019004118.
<span class="bold">PMID: </span><a href="/pubmed/32756940" target="_blank">32756940</a><a href="/pmc/articles/PMC7596851" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31422708">Trisomy 8 in acute myeloid leukemia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hemsing AL,
Hovland R,
Tsykunova G,
Reikvam H</span><br />
<span class="medgenPMjournal">Expert Rev Hematol</span>
2019 Nov;12(11):947-958.
Epub 2019 Sep 26
doi: 10.1080/17474086.2019.1657400.
<span class="bold">PMID: </span><a href="/pubmed/31422708" target="_blank">31422708</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24883128">Diagnosis and management of intestinal Behçet's disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hisamatsu T,
Naganuma M,
Matsuoka K,
Kanai T</span><br />
<span class="medgenPMjournal">Clin J Gastroenterol</span>
2014 Jun;7(3):205-12.
Epub 2014 Apr 20
doi: 10.1007/s12328-014-0488-0.
<span class="bold">PMID: </span><a href="/pubmed/24883128" target="_blank">24883128</a><a href="/pmc/articles/PMC4037558" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23912822">Childhood myelodysplastic syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chatterjee T,
Choudhry VP</span><br />
<span class="medgenPMjournal">Indian J Pediatr</span>
2013 Sep;80(9):764-71.
Epub 2013 Aug 3
doi: 10.1007/s12098-013-1130-8.
<span class="bold">PMID: </span><a href="/pubmed/23912822" target="_blank">23912822</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11640868">Myeloproliferative disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bench AJ,
Cross NC,
Huntly BJ,
Nacheva EP,
Green AR</span><br />
<span class="medgenPMjournal">Best Pract Res Clin Haematol</span>
2001 Sep;14(3):531-51.
doi: 10.1053/beha.2001.0153.
<span class="bold">PMID: </span><a href="/pubmed/11640868" target="_blank">11640868</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trisomy%208%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 (422)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38300723">Cytogenetic and Molecular Associations with Outcomes in Higher-Risk Myelodysplastic Syndromes Treated with Hypomethylating Agents plus Venetoclax.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bazinet A,
Desikan SP,
Li Z,
Rodriguez-Sevilla JJ,
Venugopal S,
Urrutia S,
Montalban-Bravo G,
Sasaki K,
Chien KS,
Hammond D,
Kanagal-Shamanna R,
Ganan-Gomez I,
Kadia TM,
Borthakur G,
DiNardo CD,
Daver NG,
Jabbour EJ,
Ravandi F,
Kantarjian H,
Garcia-Manero G</span><br />
<span class="medgenPMjournal">Clin Cancer Res</span>
2024 Apr 1;30(7):1319-1326.
doi: 10.1158/1078-0432.CCR-23-2860.
<span class="bold">PMID: </span><a href="/pubmed/38300723" target="_blank">38300723</a><a href="/pmc/articles/PMC11815990" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37247092">GATA2 Deficiency: Predisposition to Myeloid Malignancy and Hematopoietic Cell Transplantation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rajput RV,
Arnold DE</span><br />
<span class="medgenPMjournal">Curr Hematol Malig Rep</span>
2023 Aug;18(4):89-97.
Epub 2023 May 29
doi: 10.1007/s11899-023-00695-7.
<span class="bold">PMID: </span><a href="/pubmed/37247092" target="_blank">37247092</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36762734">Clinical features and independent predictors of Behçet's disease associated with myelodysplastic syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ding Y,
Hu W,
Li L,
Guan W,
Guan K,
He Y,
Liu S,
Li TF</span><br />
<span class="medgenPMjournal">Clin Exp Rheumatol</span>
2023 Sep;41(9):1823-1830.
Epub 2023 Feb 7
doi: 10.55563/clinexprheumatol/04us5e.
<span class="bold">PMID: </span><a href="/pubmed/36762734" target="_blank">36762734</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36727400">Somatic genetic alterations predict hematological progression in GATA2 deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Largeaud L,
Collin M,
Monselet N,
Vergez F,
Fregona V,
Larcher L,
Hirsch P,
Duployez N,
Bidet A,
Luquet I,
Bustamante J,
Dufrechou S,
Prade N,
Nolla M,
Hamelle C,
Tavitian S,
Habib C,
Meynier M,
Bellanne-Chantelot C,
Donadieu J,
De Fontbrune FS,
Fieschi C,
Ferster A,
Delhommeau F,
Delabesse E,
Pasquet M</span><br />
<span class="medgenPMjournal">Haematologica</span>
2023 Jun 1;108(6):1515-1529.
doi: 10.3324/haematol.2022.282250.
<span class="bold">PMID: </span><a href="/pubmed/36727400" target="_blank">36727400</a><a href="/pmc/articles/PMC10230419" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23912822">Childhood myelodysplastic syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chatterjee T,
Choudhry VP</span><br />
<span class="medgenPMjournal">Indian J Pediatr</span>
2013 Sep;80(9):764-71.
Epub 2013 Aug 3
doi: 10.1007/s12098-013-1130-8.
<span class="bold">PMID: </span><a href="/pubmed/23912822" target="_blank">23912822</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trisomy%208%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 (328)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/32140893">How to treat myelodysplastic syndrome with clinical features resembling Behçet syndrome: a case-based systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yilmaz U,
Ar MC,
Esatoglu SN,
Bavunoglu I,
Erzin YZ,
Hatemi AI,
Yildirim S,
Hatemi G,
Celik AF</span><br />
<span class="medgenPMjournal">Ann Hematol</span>
2020 Jun;99(6):1193-1203.
Epub 2020 Mar 5
doi: 10.1007/s00277-020-03951-5.
<span class="bold">PMID: </span><a href="/pubmed/32140893" target="_blank">32140893</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25664843">A reappraisal of the association between Behçet's disease, myelodysplastic syndrome and the presence of trisomy 8: a systematic literature review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Esatoglu SN,
Hatemi G,
Salihoglu A,
Hatemi I,
Soysal T,
Celik AF</span><br />
<span class="medgenPMjournal">Clin Exp Rheumatol</span>
2015 Nov-Dec;33(6 Suppl 94):S145-51.
Epub 2015 Feb 9
<span class="bold">PMID: </span><a href="/pubmed/25664843" target="_blank">25664843</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24505123">Bone marrow transplantation for Behçet's disease: a case report and systematic review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Soysal T,
Salihoğlu A,
Esatoğlu SN,
Gültürk E,
Eşkazan AE,
Hatemi G,
Hatemi I,
Öngören Aydın Ş,
Erzin YZ,
Başlar Z,
Tüzüner N,
Ferhanoğlu B,
Çelik AF</span><br />
<span class="medgenPMjournal">Rheumatology (Oxford)</span>
2014 Jun;53(6):1136-41.
Epub 2014 Feb 6
doi: 10.1093/rheumatology/ket479.
<span class="bold">PMID: </span><a href="/pubmed/24505123" target="_blank">24505123</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trisomy%208%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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<li><a href="/gtr/tests?term=C0432412%5bDISCUI%5d&amp;filter=method%3A2%5F29" target="_blank">Detection of homozygosity (4)</a></li>
<li><a href="/gtr/tests?term=C0432412%5bDISCUI%5d&amp;filter=method%3A3%5F23" target="_blank">FISH-interphase (1)</a></li>
<li><a href="/gtr/tests?term=C0432412%5bDISCUI%5d&amp;filter=method%3A3%5F32" target="_blank">Karyotyping (11)</a></li>
<li><a href="/gtr/tests?term=C0432412%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
<li><a href="/gtr/tests?term=C0432412%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0432412%5bDISCUI%5d" target="_blank">See all (16)</a></total></li>
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