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<meta name="keywords" content="C1860268, finding, gonadal tissue inappropriate for external genitalia or chromosomal sex, 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="" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=348064
|
||
ConceptID=C1860268
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Gonadal tissue inappropriate for external genitalia or chromosomal sex</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348064</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:">C1860268</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</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:0003248">HP:0003248</a></td></tr>
|
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</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_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Gonadal tissue inappropriate for external genitalia or chromosomal sex</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/52948" ref="tree=MeSH" title="MedGen record for Abnormality of the genitourinary system">Abnormality of the genitourinary system</a></span><ul><li><span class="TLline"><a href="/medgen/155422" ref="tree=MeSH" title="MedGen record for Abnormality of the genital system">Abnormality of the genital system</a></span><ul><li><span class="TLline"><a href="/medgen/866746" ref="tree=MeSH" title="MedGen record for Abnormal reproductive system morphology">Abnormal reproductive system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871335" ref="tree=MeSH" title="MedGen record for Abnormal external genitalia morphology">Abnormal external genitalia morphology</a></span><ul><li><span class="TLline"><a href="/medgen/78596" ref="tree=MeSH" title="MedGen record for Ambiguous genitalia">Ambiguous genitalia</a></span><ul><li><span class="matched_ds">Gonadal tissue inappropriate for external genitalia or chromosomal sex</span></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_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_181980"><div><strong>Drash syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>181980</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.">C0950121</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">WT1 disorder is characterized by congenital/infantile or childhood onset of steroid-resistant nephrotic syndrome (SRNS), a progressive glomerulopathy that does not respond to standard steroid therapy. Additional common findings can include disorders of testicular development (with or without abnormalities of the external genitalia and/or müllerian structures) and Wilms tumor. Less common findings are congenital anomalies of the kidney and urinary tract (CAKUT) and gonadoblastoma. While various combinations of renal and other findings associated with a WT1 pathogenic variant were designated as certain syndromes in the past, those designations are now recognized to be part of a phenotypic continuum and are no longer clinically helpful.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/181980">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_181980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Drash syndrome</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37772882">The Biological Basis of Sex Differences in Athletic Performance: Consensus Statement for the American College of Sports Medicine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hunter SK,
|
||
S Angadi S,
|
||
Bhargava A,
|
||
Harper J,
|
||
Hirschberg AL,
|
||
D Levine B,
|
||
L Moreau K,
|
||
J Nokoff N,
|
||
Stachenfeld NS,
|
||
Bermon S</span><br />
|
||
<span class="medgenPMjournal">Med Sci Sports Exerc</span>
|
||
2023 Dec 1;55(12):2328-2360.
|
||
Epub 2023 Sep 28
|
||
doi: 10.1249/MSS.0000000000003300.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37772882" target="_blank">37772882</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36524989">Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dungan JS,
|
||
Klugman S,
|
||
Darilek S,
|
||
Malinowski J,
|
||
Akkari YMN,
|
||
Monaghan KG,
|
||
Erwin A,
|
||
Best RG;
|
||
ACMG Board of Directors. Electronic address: documents@acmg.net</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2023 Feb;25(2):100336.
|
||
Epub 2022 Dec 16
|
||
doi: 10.1016/j.gim.2022.11.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36524989" target="_blank">36524989</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33498356">Epidemiology, Staging, and Management of Multiple Myeloma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Padala SA,
|
||
Barsouk A,
|
||
Barsouk A,
|
||
Rawla P,
|
||
Vakiti A,
|
||
Kolhe R,
|
||
Kota V,
|
||
Ajebo GH</span><br />
|
||
<span class="medgenPMjournal">Med Sci (Basel)</span>
|
||
2021 Jan 20;9(1)
|
||
doi: 10.3390/medsci9010003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33498356" target="_blank">33498356</a><a href="/pmc/articles/PMC7838784" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(gonadal%20tissue%20inappropriate%20for%20external%20genitalia%20or%20chromosomal%20sex)%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 (792)</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/38394822">PSRs: Selfish chromosomes that manipulate reproductive development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang X,
|
||
Ferree PM</span><br />
|
||
<span class="medgenPMjournal">Semin Cell Dev Biol</span>
|
||
2024 Jun-Jul;159-160:66-73.
|
||
Epub 2024 Feb 22
|
||
doi: 10.1016/j.semcdb.2024.01.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38394822" target="_blank">38394822</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7697345">Sex determination. One for a boy, two for a girl? The Genetics Review Group.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Curr Biol</span>
|
||
1995 Jan 1;5(1):37-9.
|
||
doi: 10.1016/s0960-9822(95)00012-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7697345" target="_blank">7697345</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6362843">The prognostic implications of chromosomal findings in acute lymphoblastic leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Secker-Walker LM</span><br />
|
||
<span class="medgenPMjournal">Cancer Genet Cytogenet</span>
|
||
1984 Feb;11(2):233-48.
|
||
doi: 10.1016/0165-4608(84)90119-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6362843" target="_blank">6362843</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4265019">Dermatoglyphics and syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Preus M,
|
||
Fraser FC</span><br />
|
||
<span class="medgenPMjournal">Am J Dis Child</span>
|
||
1972 Dec;124(6):933-43.
|
||
doi: 10.1001/archpedi.1972.02110180135022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4265019" target="_blank">4265019</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4176862">Maternal radiation and chromosomal aberrations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uchida IA,
|
||
Holunga R,
|
||
Lawler C</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
1968 Nov 16;2(7577):1045-9.
|
||
doi: 10.1016/s0140-6736(68)91525-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4176862" target="_blank">4176862</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gonadal%20tissue%20inappropriate%20for%20external%20genitalia%20or%20chromosomal%20sex%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 (7151)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36690923">Prenatal screening and diagnosis of sex chromosome conditions: The new normal?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hui L,
|
||
Langlois S</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2023 Feb;43(2):131-132.
|
||
Epub 2023 Feb 4
|
||
doi: 10.1002/pd.6323.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36690923" target="_blank">36690923</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34507685">Prenatal diagnosis and genetic counseling of low-level sex chromosomal mosaicism with a favorable outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang C,
|
||
Ma C,
|
||
Liang X,
|
||
Lu Y,
|
||
Li Z</span><br />
|
||
<span class="medgenPMjournal">Taiwan J Obstet Gynecol</span>
|
||
2021 Sep;60(5):953-954.
|
||
doi: 10.1016/j.tjog.2021.07.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34507685" target="_blank">34507685</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25172000">Chromosomal syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shiang R</span><br />
|
||
<span class="medgenPMjournal">Atlas Oral Maxillofac Surg Clin North Am</span>
|
||
2014 Sep;22(2):197-203.
|
||
Epub 2014 Jul 23
|
||
doi: 10.1016/j.cxom.2014.05.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25172000" target="_blank">25172000</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6213324">Fetal dermatoglyphics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Katznelson MB,
|
||
Goldman B</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
1982 Apr;21(4):237-42.
|
||
doi: 10.1111/j.1399-0004.1982.tb00757.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6213324" target="_blank">6213324</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4265019">Dermatoglyphics and syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Preus M,
|
||
Fraser FC</span><br />
|
||
<span class="medgenPMjournal">Am J Dis Child</span>
|
||
1972 Dec;124(6):933-43.
|
||
doi: 10.1001/archpedi.1972.02110180135022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4265019" target="_blank">4265019</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gonadal%20tissue%20inappropriate%20for%20external%20genitalia%20or%20chromosomal%20sex%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 (6353)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38306984">Xist ribonucleoproteins promote female sex-biased autoimmunity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dou DR,
|
||
Zhao Y,
|
||
Belk JA,
|
||
Zhao Y,
|
||
Casey KM,
|
||
Chen DC,
|
||
Li R,
|
||
Yu B,
|
||
Srinivasan S,
|
||
Abe BT,
|
||
Kraft K,
|
||
Hellström C,
|
||
Sjöberg R,
|
||
Chang S,
|
||
Feng A,
|
||
Goldman DW,
|
||
Shah AA,
|
||
Petri M,
|
||
Chung LS,
|
||
Fiorentino DF,
|
||
Lundberg EK,
|
||
Wutz A,
|
||
Utz PJ,
|
||
Chang HY</span><br />
|
||
<span class="medgenPMjournal">Cell</span>
|
||
2024 Feb 1;187(3):733-749.e16.
|
||
doi: 10.1016/j.cell.2023.12.037.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38306984" target="_blank">38306984</a><a href="/pmc/articles/PMC10949934" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29325624">Sex chromosome aneuploidies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Skuse D,
|
||
Printzlau F,
|
||
Wolstencroft J</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2018;147:355-376.
|
||
doi: 10.1016/B978-0-444-63233-3.00024-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29325624" target="_blank">29325624</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21655936">The single active X in human cells: evolutionary tinkering personified.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Migeon BR</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2011 Aug;130(2):281-93.
|
||
Epub 2011 Jun 8
|
||
doi: 10.1007/s00439-011-1016-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21655936" target="_blank">21655936</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17180766">Unravelling the X in sex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whitelaw E</span><br />
|
||
<span class="medgenPMjournal">Dev Cell</span>
|
||
2006 Dec;11(6):759-62.
|
||
doi: 10.1016/j.devcel.2006.11.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17180766" target="_blank">17180766</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5317489">Kallmann syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blizzard RM,
|
||
Harper PS</span><br />
|
||
<span class="medgenPMjournal">Birth Defects Orig Artic Ser</span>
|
||
1971 May;7(6):324-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5317489" target="_blank">5317489</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gonadal%20tissue%20inappropriate%20for%20external%20genitalia%20or%20chromosomal%20sex%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 (1967)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35040871">Association of Telomere Length With Risk of Disease and Mortality.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schneider CV,
|
||
Schneider KM,
|
||
Teumer A,
|
||
Rudolph KL,
|
||
Hartmann D,
|
||
Rader DJ,
|
||
Strnad P</span><br />
|
||
<span class="medgenPMjournal">JAMA Intern Med</span>
|
||
2022 Mar 1;182(3):291-300.
|
||
doi: 10.1001/jamainternmed.2021.7804.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35040871" target="_blank">35040871</a><a href="/pmc/articles/PMC8767489" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31424607">Crossover Interference, Crossover Maturation, and Human Aneuploidy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang S,
|
||
Liu Y,
|
||
Shang Y,
|
||
Zhai B,
|
||
Yang X,
|
||
Kleckner N,
|
||
Zhang L</span><br />
|
||
<span class="medgenPMjournal">Bioessays</span>
|
||
2019 Oct;41(10):e1800221.
|
||
Epub 2019 Aug 19
|
||
doi: 10.1002/bies.201800221.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31424607" target="_blank">31424607</a><a href="/pmc/articles/PMC6756933" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22961704">Ohno's hypothesis and Muller's paradox: sex chromosome dosage compensation may serve collective gene functions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Forsdyke DR</span><br />
|
||
<span class="medgenPMjournal">Bioessays</span>
|
||
2012 Nov;34(11):930-3.
|
||
Epub 2012 Sep 7
|
||
doi: 10.1002/bies.201200103.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22961704" target="_blank">22961704</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8745379">Dystrophinopathies: clarification and complication.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Samaha FJ,
|
||
Quinlan JG</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
1996 Jan;11(1):13-20.
|
||
doi: 10.1177/088307389601100103.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8745379" target="_blank">8745379</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4176862">Maternal radiation and chromosomal aberrations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uchida IA,
|
||
Holunga R,
|
||
Lawler C</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
1968 Nov 16;2(7577):1045-9.
|
||
doi: 10.1016/s0140-6736(68)91525-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4176862" target="_blank">4176862</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gonadal%20tissue%20inappropriate%20for%20external%20genitalia%20or%20chromosomal%20sex%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 (3071)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39854466">The X chromosome's influences on the human brain.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang Z,
|
||
Sullivan PF,
|
||
Li T,
|
||
Zhao B,
|
||
Wang X,
|
||
Luo T,
|
||
Huang S,
|
||
Guan PY,
|
||
Chen J,
|
||
Yang Y,
|
||
Stein JL,
|
||
Li Y,
|
||
Liu D,
|
||
Sun L,
|
||
Zhu H</span><br />
|
||
<span class="medgenPMjournal">Sci Adv</span>
|
||
2025 Jan 24;11(4):eadq5360.
|
||
doi: 10.1126/sciadv.adq5360.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39854466" target="_blank">39854466</a><a href="/pmc/articles/PMC11759047" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22415007">Increased Y-chromosome detection by SRY duplexing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hansen MH,
|
||
Clausen FB,
|
||
Dziegiel MH</span><br />
|
||
<span class="medgenPMjournal">Fetal Diagn Ther</span>
|
||
2012;31(3):185-90.
|
||
Epub 2012 Mar 13
|
||
doi: 10.1159/000335350.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22415007" target="_blank">22415007</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17467256">Germline histone dynamics and epigenetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ooi SL,
|
||
Henikoff S</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Cell Biol</span>
|
||
2007 Jun;19(3):257-65.
|
||
Epub 2007 Apr 27
|
||
doi: 10.1016/j.ceb.2007.04.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17467256" target="_blank">17467256</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1287635">Trisomy 16 confined to the placenta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Post JG,
|
||
Nijhuis JG</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
1992 Dec;12(12):1001-7.
|
||
doi: 10.1002/pd.1970121205.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1287635" target="_blank">1287635</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6362843">The prognostic implications of chromosomal findings in acute lymphoblastic leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Secker-Walker LM</span><br />
|
||
<span class="medgenPMjournal">Cancer Genet Cytogenet</span>
|
||
1984 Feb;11(2):233-48.
|
||
doi: 10.1016/0165-4608(84)90119-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6362843" target="_blank">6362843</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gonadal%20tissue%20inappropriate%20for%20external%20genitalia%20or%20chromosomal%20sex%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 (5349)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/36642718">Global prevalence of Rett syndrome: systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Petriti U,
|
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Dudman DC,
|
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Scosyrev E,
|
||
Lopez-Leon S</span><br />
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<span class="medgenPMjournal">Syst Rev</span>
|
||
2023 Jan 16;12(1):5.
|
||
doi: 10.1186/s13643-023-02169-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36642718" target="_blank">36642718</a><a href="/pmc/articles/PMC9841621" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35608568">Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rose NC,
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Barrie ES,
|
||
Malinowski J,
|
||
Jenkins GP,
|
||
McClain MR,
|
||
LaGrave D,
|
||
Leung ML;
|
||
ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net</span><br />
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<span class="medgenPMjournal">Genet Med</span>
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2022 Jul;24(7):1379-1391.
|
||
Epub 2022 May 24
|
||
doi: 10.1016/j.gim.2022.03.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35608568" target="_blank">35608568</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/34498060">A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Houston BJ,
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||
Riera-Escamilla A,
|
||
Wyrwoll MJ,
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||
Salas-Huetos A,
|
||
Xavier MJ,
|
||
Nagirnaja L,
|
||
Friedrich C,
|
||
Conrad DF,
|
||
Aston KI,
|
||
Krausz C,
|
||
Tüttelmann F,
|
||
O'Bryan MK,
|
||
Veltman JA,
|
||
Oud MS</span><br />
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<span class="medgenPMjournal">Hum Reprod Update</span>
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2021 Dec 21;28(1):15-29.
|
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doi: 10.1093/humupd/dmab030.
|
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<span class="bold">PMID: </span><a href="/pubmed/34498060" target="_blank">34498060</a><a href="/pmc/articles/PMC8730311" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33246831">Gender identity disorder (GID) in adolescents and adults with differences of sex development (DSD): A systematic review and meta-analysis.</a></div>
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|
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Shah U</span><br />
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<span class="medgenPMjournal">J Pediatr Urol</span>
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2021 Feb;17(1):39-47.
|
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Epub 2020 Nov 12
|
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doi: 10.1016/j.jpurol.2020.11.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33246831" target="_blank">33246831</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/28382695">Discordant non-invasive prenatal testing (NIPT) - a systematic review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Hartwig TS,
|
||
Ambye L,
|
||
Sørensen S,
|
||
Jørgensen FS</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2017 Jun;37(6):527-539.
|
||
Epub 2017 Jun 1
|
||
doi: 10.1002/pd.5049.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28382695" target="_blank">28382695</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gonadal%20tissue%20inappropriate%20for%20external%20genitalia%20or%20chromosomal%20sex%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 (78)</a></div></div>
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