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<meta name="keywords" content="9p duplication, 9p partial trisomy syndrome, 9p trisomy, C0265428, chromosome 9, partial trisomy 9p, chromosome 9p duplication, disease or syndrome, duplication 9p, duplication 9p partial, duplication of the short arm of chromosome 9, partial duplication of chromosome 9p, partial duplication of the short arm of chromosome 9, partial trisomy 9p, partial trisomy of chromosome 9p, partial trisomy of the short arm of chromosome 9, partial trisomy of the short arm of chromosome type 9, partial trisomy/tetrasomy of the short arm of chromosome 9, rethore syndrome, réthoré syndrome, trisomy 9p, trisomy 9p partial, trisomy 9p syndrome, trisomy of the short arm of chromosome 9, trisomy type 9p, 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="Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=120539
|
||
ConceptID=C0265428
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">9p partial trisomy syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120539</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0265428</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Chromosome 9, partial trisomy 9p; Duplication 9p partial; Partial trisomy of the short arm of chromosome 9; Trisomy 9p; Trisomy 9p partial</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>9p partial trisomy syndrome (77527000); Réthoré syndrome (77527000); Trisomy 9p syndrome (77527000); Rethore syndrome (77527000)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0016526" target="_blank">MONDO:0016526</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=236">ORPHA236</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations. [from <a title="Orphanet Rare Disease Ontology (ORDO)" href="http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php" class="defSource" target="_blank">ORDO</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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0265428[DISCUI]&test_type=Clinical" ref="ncbi_uid=120539">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=120539" ref="ncbi_uid=120539">V</a></span></span><span class="TLline">9p partial trisomy syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">9p partial trisomy syndrome</span><ul><li><span class="matched_ds">9p partial trisomy syndrome</span><ul><li><span class="matched_ds">9p partial trisomy syndrome</span><ul><li><span class="matched_ds">9p partial trisomy syndrome</span><ul><li><span class="matched_ds">9p partial trisomy syndrome</span><ul><li><span class="matched_ds">9p partial trisomy syndrome</span><ul><li><span class="matched_ds">9p partial trisomy syndrome</span><ul><li><span class="TLline"><a href="/medgen/162876" ref="tree=MeSH" title="MedGen record for Tetrasomy 9p">Tetrasomy 9p</a></span></li></ul></li></ul></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/38059735">Evaluating Airway Management in Patients With Trisomy 21 in the PICU and Cardiac ICU: A Retrospective Cohort Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilsterman EJ Jr,
|
||
Nellis ME,
|
||
Panisello J,
|
||
Al-Subu A,
|
||
Breuer R,
|
||
Kimura D,
|
||
Krawiec C,
|
||
Mallory PP,
|
||
Nett S,
|
||
Owen E,
|
||
Parsons SJ,
|
||
Sanders RC Jr,
|
||
Garcia-Marcinkiewicz A,
|
||
Napolitano N,
|
||
Shults J,
|
||
Nadkarni VM,
|
||
Nishisaki A;
|
||
National Emergency Airway Registry for Children (NEAR4KIDS) and Pediatric Acute Lung Injury and Sepsis Investigators (PALISI) Network</span><br />
|
||
<span class="medgenPMjournal">Pediatr Crit Care Med</span>
|
||
2024 Apr 1;25(4):335-343.
|
||
Epub 2023 Dec 7
|
||
doi: 10.1097/PCC.0000000000003418.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38059735" target="_blank">38059735</a><a href="/pmc/articles/PMC10994735" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37657051">Association between chromosome abnormities and prenatal diagnosis indicators screening in the second trimester of pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pan C,
|
||
Li Z,
|
||
Cheng G,
|
||
Luo X,
|
||
Nie F,
|
||
Gao J,
|
||
Yang P</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2023 Sep 1;102(35):e34762.
|
||
doi: 10.1097/MD.0000000000034762.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37657051" target="_blank">37657051</a><a href="/pmc/articles/PMC10476756" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34238780">Prenatal diagnosis of the Dandy-Walker malformation associated with partial trisomy 12p and distal 15q deletion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun Y,
|
||
Zhang N,
|
||
Tian H,
|
||
Zhang P,
|
||
Li Y</span><br />
|
||
<span class="medgenPMjournal">J Genet</span>
|
||
2021;100
|
||
<span class="bold">PMID: </span><a href="/pubmed/34238780" target="_blank">34238780</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(9p%20partial%20trisomy%20syndrome)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (6)</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/33998078">Routine first-trimester combined screening for pre-eclampsia: pregnancy-associated plasma protein-A or placental growth factor?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noël L,
|
||
Guy GP,
|
||
Jones S,
|
||
Forenc K,
|
||
Buck E,
|
||
Papageorghiou AT,
|
||
Thilaganathan B</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2021 Oct;58(4):540-545.
|
||
Epub 2021 Sep 13
|
||
doi: 10.1002/uog.23669.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33998078" target="_blank">33998078</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33472713">Infantile Spasms and Trisomy 21: Unfavorable Outcomes with First-line Vigabatrin Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Datta AN,
|
||
Crawford J,
|
||
Wong PKH</span><br />
|
||
<span class="medgenPMjournal">Can J Neurol Sci</span>
|
||
2021 Nov;48(6):839-844.
|
||
Epub 2021 Jan 21
|
||
doi: 10.1017/cjn.2021.12.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33472713" target="_blank">33472713</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33375814">Clinical Course for Patients With Trisomy 13 and 18 Pursuing Life-Prolonging Therapies Versus Comfort-Directed Care.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Milligan MCP,
|
||
Jackson LE,
|
||
Maurer SH</span><br />
|
||
<span class="medgenPMjournal">Am J Hosp Palliat Care</span>
|
||
2021 Oct;38(10):1225-1229.
|
||
Epub 2020 Dec 30
|
||
doi: 10.1177/1049909120985210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33375814" target="_blank">33375814</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17389182">Chromosomal abnormalities associated with omphalocele.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen CP</span><br />
|
||
<span class="medgenPMjournal">Taiwan J Obstet Gynecol</span>
|
||
2007 Mar;46(1):1-8.
|
||
doi: 10.1016/S1028-4559(08)60099-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17389182" target="_blank">17389182</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5079109">A case of partial 14 trisomy 47,XY,(14q-)+ and translocation t(9p+;14q-) in mother and brother.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Short EM,
|
||
Solitare GB,
|
||
Breg WR</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1972 Sep;9(3):367-73.
|
||
doi: 10.1136/jmg.9.3.367.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5079109" target="_blank">5079109</a><a href="/pmc/articles/PMC1469148" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%229p%20partial%20trisomy%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (37)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34238780">Prenatal diagnosis of the Dandy-Walker malformation associated with partial trisomy 12p and distal 15q deletion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun Y,
|
||
Zhang N,
|
||
Tian H,
|
||
Zhang P,
|
||
Li Y</span><br />
|
||
<span class="medgenPMjournal">J Genet</span>
|
||
2021;100
|
||
<span class="bold">PMID: </span><a href="/pubmed/34238780" target="_blank">34238780</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25667990">Clinical and molecular delineation of duplication 9p24.3q21.11 in a patient with psychotic behavior.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martínez-Jacobo L,
|
||
Ortíz-López R,
|
||
Rizo-Méndez A,
|
||
García-Molina V,
|
||
Santuario-Facio SK,
|
||
Rivas F,
|
||
Rojas-Martínez A</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2015 Apr 10;560(1):124-7.
|
||
Epub 2015 Feb 7
|
||
doi: 10.1016/j.gene.2015.02.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25667990" target="_blank">25667990</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16179225">Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Menten B,
|
||
Buysse K,
|
||
Vandesompele J,
|
||
De Smet E,
|
||
De Paepe A,
|
||
Speleman F,
|
||
Mortier G</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2005 Jul-Sep;48(3):301-9.
|
||
doi: 10.1016/j.ejmg.2005.04.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16179225" target="_blank">16179225</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1746881">Four cases of trisomy 9p syndrome with particular chromosome rearrangements.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bussani Mastellone C,
|
||
Giovannucci Uzielli ML,
|
||
Guarducci S,
|
||
Nathan G</span><br />
|
||
<span class="medgenPMjournal">Ann Genet</span>
|
||
1991;34(2):115-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1746881" target="_blank">1746881</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5079109">A case of partial 14 trisomy 47,XY,(14q-)+ and translocation t(9p+;14q-) in mother and brother.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Short EM,
|
||
Solitare GB,
|
||
Breg WR</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1972 Sep;9(3):367-73.
|
||
doi: 10.1136/jmg.9.3.367.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5079109" target="_blank">5079109</a><a href="/pmc/articles/PMC1469148" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%229p%20partial%20trisomy%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (59)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35619116">Congenital hydrocephalus in a trisomy 9p gained child: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Henningsen MB,
|
||
Gulisano HA,
|
||
Bjarkam CR</span><br />
|
||
<span class="medgenPMjournal">J Med Case Rep</span>
|
||
2022 May 27;16(1):206.
|
||
doi: 10.1186/s13256-022-03424-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35619116" target="_blank">35619116</a><a href="/pmc/articles/PMC9137177" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33472713">Infantile Spasms and Trisomy 21: Unfavorable Outcomes with First-line Vigabatrin Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Datta AN,
|
||
Crawford J,
|
||
Wong PKH</span><br />
|
||
<span class="medgenPMjournal">Can J Neurol Sci</span>
|
||
2021 Nov;48(6):839-844.
|
||
Epub 2021 Jan 21
|
||
doi: 10.1017/cjn.2021.12.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33472713" target="_blank">33472713</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31568780">Recent advances in trigonocephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mocquard C,
|
||
Aillet S,
|
||
Riffaud L</span><br />
|
||
<span class="medgenPMjournal">Neurochirurgie</span>
|
||
2019 Nov;65(5):246-251.
|
||
Epub 2019 Sep 27
|
||
doi: 10.1016/j.neuchi.2019.09.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31568780" target="_blank">31568780</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26689153">Good response to long-term therapy with growth hormone in a patient with 9p trisomy syndrome: A case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Canton AP,
|
||
Nishi MY,
|
||
Furuya TK,
|
||
Roela RA,
|
||
Jorge AA</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 Apr;170A(4):1046-9.
|
||
Epub 2015 Dec 22
|
||
doi: 10.1002/ajmg.a.37521.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26689153" target="_blank">26689153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/322750">Limb anomalies in chromosomal aberrations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pfeiffer RA,
|
||
Santelmann R</span><br />
|
||
<span class="medgenPMjournal">Birth Defects Orig Artic Ser</span>
|
||
1977;13(1):319-37.
|
||
<span class="bold">PMID: </span><a href="/pubmed/322750" target="_blank">322750</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%229p%20partial%20trisomy%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (15)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39707235">Role of copy number variation analysis in prenatally diagnosed Blake's pouch cyst.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guo C,
|
||
Sun L,
|
||
Liu Y,
|
||
Yan Y,
|
||
Wang L,
|
||
Wang X,
|
||
Wu Q</span><br />
|
||
<span class="medgenPMjournal">BMC Pregnancy Childbirth</span>
|
||
2024 Dec 20;24(1):842.
|
||
doi: 10.1186/s12884-024-07014-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39707235" target="_blank">39707235</a><a href="/pmc/articles/PMC11660839" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37657051">Association between chromosome abnormities and prenatal diagnosis indicators screening in the second trimester of pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pan C,
|
||
Li Z,
|
||
Cheng G,
|
||
Luo X,
|
||
Nie F,
|
||
Gao J,
|
||
Yang P</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2023 Sep 1;102(35):e34762.
|
||
doi: 10.1097/MD.0000000000034762.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37657051" target="_blank">37657051</a><a href="/pmc/articles/PMC10476756" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33375814">Clinical Course for Patients With Trisomy 13 and 18 Pursuing Life-Prolonging Therapies Versus Comfort-Directed Care.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Milligan MCP,
|
||
Jackson LE,
|
||
Maurer SH</span><br />
|
||
<span class="medgenPMjournal">Am J Hosp Palliat Care</span>
|
||
2021 Oct;38(10):1225-1229.
|
||
Epub 2020 Dec 30
|
||
doi: 10.1177/1049909120985210.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33375814" target="_blank">33375814</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22752474">Unbalanced translocation involving partial trisomy 9p and partial monosomy yq with neurodevelopmental delays.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lyons MJ,
|
||
Fuller JD,
|
||
Montoya Mdel C,
|
||
DuPont BR,
|
||
Holden KR</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2013 Apr;28(4):524-6.
|
||
Epub 2012 Jun 29
|
||
doi: 10.1177/0883073812446309.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22752474" target="_blank">22752474</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15276542">Better surgical prognosis for patients with complete atrioventricular septal defect and Down's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Formigari R,
|
||
Di Donato RM,
|
||
Gargiulo G,
|
||
Di Carlo D,
|
||
Feltri C,
|
||
Picchio FM,
|
||
Marino B</span><br />
|
||
<span class="medgenPMjournal">Ann Thorac Surg</span>
|
||
2004 Aug;78(2):666-72; discussion 672.
|
||
doi: 10.1016/j.athoracsur.2003.12.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15276542" target="_blank">15276542</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%229p%20partial%20trisomy%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (26)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31568780">Recent advances in trigonocephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mocquard C,
|
||
Aillet S,
|
||
Riffaud L</span><br />
|
||
<span class="medgenPMjournal">Neurochirurgie</span>
|
||
2019 Nov;65(5):246-251.
|
||
Epub 2019 Sep 27
|
||
doi: 10.1016/j.neuchi.2019.09.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31568780" target="_blank">31568780</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16179225">Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Menten B,
|
||
Buysse K,
|
||
Vandesompele J,
|
||
De Smet E,
|
||
De Paepe A,
|
||
Speleman F,
|
||
Mortier G</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2005 Jul-Sep;48(3):301-9.
|
||
doi: 10.1016/j.ejmg.2005.04.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16179225" target="_blank">16179225</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8970601">Genetic aspects of uveal melanoma: a brief review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh AD,
|
||
Wang MX,
|
||
Donoso LA,
|
||
Shields CL,
|
||
De Potter P,
|
||
Shields JA</span><br />
|
||
<span class="medgenPMjournal">Semin Oncol</span>
|
||
1996 Dec;23(6):768-72.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8970601" target="_blank">8970601</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/511173">Trisomy 9p resulting from de novo 9/15 translocation and a 9p isochromosome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sandig KR,
|
||
Mücke J,
|
||
Veit H</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
1979 Nov;52(2):175-8.
|
||
doi: 10.1007/BF00271570.
|
||
<span class="bold">PMID: </span><a href="/pubmed/511173" target="_blank">511173</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1196731">The trisomy 9p syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Centerwall WR,
|
||
Beatty-DeSana JW</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
1975 Nov;56(5):748-55.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1196731" target="_blank">1196731</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%229p%20partial%20trisomy%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (36)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0265428%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
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<li><a href="/gtr/tests?term=C0265428%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (1)</a></li>
|
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<li><a href="/gtr/tests?term=C0265428%5bDISCUI%5d&filter=method%3A3%5F32" target="_blank">Karyotyping (8)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0265428%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
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