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<meta name="keywords" content="C5436599, disease or syndrome, oocyte maturation defect 9, oocyte/zygote/embryo maturation arrest 9, oomd9, ozema9, trip13, 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="Oocyte/zygote/embryo maturation arrest-9 (OZEMA9) is characterized by female infertility due to oocyte meiotic arrest at metaphase I in most patients. Abnormal zygotic cleavage has also been observed (Zhang et al., 2020). For a discussion of genetic heterogeneity of OZEMA, see 615774." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1724427
|
||
ConceptID=C5436599
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Oocyte maturation defect 9<span class="h1sub">(OOMD9; OZEMA9)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1724427</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:">C5436599</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 9</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="TRIP13 - ID: 9319 - NCBI Gene" href="/gene/9319" class="medgenPMinfo">TRIP13</a> (5p15.33)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0033565" target="_blank">MONDO:0033565</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619011" target="_blank">619011</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">
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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">Oocyte/zygote/embryo maturation arrest-9 (OZEMA9) is characterized by female infertility due to oocyte meiotic arrest at metaphase I in most patients. Abnormal zygotic cleavage has also been observed (Zhang et al., 2020). For a discussion of genetic heterogeneity of OZEMA, see 615774. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_5795"><div><strong>Female infertility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5795</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.">C0021361</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infertility in a woman.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5795">Feature record</a> | <a href="/medgen?term=%22Female%20infertility%22%5BClinical%20Features%5D%20OR%205795%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_893088"><div><strong>Abnormality of the menstrual cycle</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>893088</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.">C4025888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the ovulation cycle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/893088">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20menstrual%20cycle%22%5BClinical%20Features%5D%20OR%20893088%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_897067"><div><strong>Oocyte arrest at metaphase I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>897067</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.">C4227845</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Cell or Molecular Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/897067">Feature record</a> | <a href="/medgen?term=%22Oocyte%20arrest%20at%20metaphase%20I%22%5BClinical%20Features%5D%20OR%20897067%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1741839"><div><strong>Zygotic cleavage failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1741839</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.">C5436598</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Cell or Molecular Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure of a fertilized oocyte to undergo the first round of cell division.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1741839">Feature record</a> | <a href="/medgen?term=%22Zygotic%20cleavage%20failure%22%5BClinical%20Features%5D%20OR%201741839%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1741839" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Zygotic cleavage failure</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_893088" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the menstrual cycle</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5795" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Female infertility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_897067" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oocyte arrest at metaphase I</a></span></li></ul></li></ul></div></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="TLline"><a href="/medgen/893170" ref="tree=GTR&ncbi_uid=893170&link_uid=893170" title="View MedGen record for 'Inherited oocyte maturation defect'">Inherited oocyte maturation defect</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=C4014291[DISCUI]&test_type=Clinical" ref="ncbi_uid=862728">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=862728" target="_blank" href="/omim/195000">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&from_uid=862728" ref="ncbi_uid=862728">V</a></span></span><span class="TLline"><a href="/medgen/862728" ref="tree=GTR&ncbi_uid=862728&link_uid=862728" title="View MedGen record for 'Female infertility due to zona pellucida defect'">Female infertility due to zona pellucida defect</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=C4225210[DISCUI]&test_type=Clinical" ref="ncbi_uid=903836">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=903836" target="_blank" href="/omim/616768">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&from_uid=903836" ref="ncbi_uid=903836">V</a></span></span><span class="TLline"><a href="/medgen/903836" ref="tree=GTR&ncbi_uid=903836&link_uid=903836" title="View MedGen record for 'Oocyte maturation defect 2'">Oocyte maturation defect 2</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=C4540205[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1617317">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1617317" target="_blank" href="/omim/182889">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&from_uid=1617317" ref="ncbi_uid=1617317">V</a></span></span><span class="TLline"><a href="/medgen/1617317" ref="tree=GTR&ncbi_uid=1617317&link_uid=1617317" title="View MedGen record for 'Oocyte maturation defect 3'">Oocyte maturation defect 3</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=C4540284[DISCUI]&test_type=Clinical" ref="ncbi_uid=1616340">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1616340" target="_blank" href="/omim/614661">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&from_uid=1616340" ref="ncbi_uid=1616340">V</a></span></span><span class="TLline"><a href="/medgen/1616340" ref="tree=GTR&ncbi_uid=1616340&link_uid=1616340" title="View MedGen record for 'Oocyte maturation defect 4'">Oocyte maturation defect 4</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=C4693865[DISCUI]&test_type=Clinical" ref="ncbi_uid=1644330">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1644330" target="_blank" href="/omim/614084">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&from_uid=1644330" ref="ncbi_uid=1644330">V</a></span></span><span class="TLline"><a href="/medgen/1644330" ref="tree=GTR&ncbi_uid=1644330&link_uid=1644330" title="View MedGen record for 'Oocyte maturation defect 5'">Oocyte maturation defect 5</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=C5193047[DISCUI]&test_type=Clinical" ref="ncbi_uid=1682649">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1682649" target="_blank" href="/omim/182888">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&from_uid=1682649" ref="ncbi_uid=1682649">V</a></span></span><span class="TLline"><a href="/medgen/1682649" ref="tree=GTR&ncbi_uid=1682649&link_uid=1682649" title="View MedGen record for 'Oocyte maturation defect 6'">Oocyte maturation defect 6</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=C5231407[DISCUI]&test_type=Clinical" ref="ncbi_uid=1684736">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1684736" target="_blank" href="/omim/608420">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&from_uid=1684736" ref="ncbi_uid=1684736">V</a></span></span><span class="TLline"><a href="/medgen/1684736" ref="tree=GTR&ncbi_uid=1684736&link_uid=1684736" title="View MedGen record for 'Oocyte maturation defect 7'">Oocyte maturation defect 7</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 Ocolor" title="OMIM"><a ref="ncbi_uid=1776094" target="_blank" href="/omim/605673">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&from_uid=1776094" ref="ncbi_uid=1776094">V</a></span></span><span class="TLline"><a href="/medgen/1776094" ref="tree=GTR&ncbi_uid=1776094&link_uid=1776094" title="View MedGen record for 'Oocyte maturation defect 8'">Oocyte maturation defect 8</a></span></li><li class="matched_ds"><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 Ocolor" title="OMIM"><a ref="ncbi_uid=1724427" target="_blank" href="/omim/604507">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&from_uid=1724427" ref="ncbi_uid=1724427">V</a></span></span><span class="TLline">Oocyte maturation defect 9</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 Ocolor" title="OMIM"><a ref="ncbi_uid=1766720" target="_blank" href="/omim/618421">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&from_uid=1766720" ref="ncbi_uid=1766720">V</a></span></span><span class="TLline"><a href="/medgen/1766720" ref="tree=GTR&ncbi_uid=1766720&link_uid=1766720" title="View MedGen record for 'Oocyte maturation defect 10'">Oocyte maturation defect 10</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 Ocolor" title="OMIM"><a ref="ncbi_uid=1794243" target="_blank" href="/omim/608860">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&from_uid=1794243" ref="ncbi_uid=1794243">V</a></span></span><span class="TLline"><a href="/medgen/1794243" ref="tree=GTR&ncbi_uid=1794243&link_uid=1794243" title="View MedGen record for 'Oocyte maturation defect 11'">Oocyte maturation defect 11</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 Ocolor" title="OMIM"><a ref="ncbi_uid=1794273" target="_blank" href="/omim/609110">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&from_uid=1794273" ref="ncbi_uid=1794273">V</a></span></span><span class="TLline"><a href="/medgen/1794273" ref="tree=GTR&ncbi_uid=1794273&link_uid=1794273" title="View MedGen record for 'Oocyte maturation defect 12'">Oocyte maturation defect 12</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 Ocolor" title="OMIM"><a ref="ncbi_uid=1840962" target="_blank" href="/omim/603618">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&from_uid=1840962" ref="ncbi_uid=1840962">V</a></span></span><span class="TLline"><a href="/medgen/1840962" ref="tree=GTR&ncbi_uid=1840962&link_uid=1840962" title="View MedGen record for 'Oocyte maturation defect 14'">Oocyte maturation defect 14</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=C5830418[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1841054">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1841054" target="_blank" href="/omim/614107">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&from_uid=1841054" ref="ncbi_uid=1841054">V</a></span></span><span class="TLline"><a href="/medgen/1841054" ref="tree=GTR&ncbi_uid=1841054&link_uid=1841054" title="View MedGen record for 'Oocyte/zygote/embryo maturation arrest 17'">Oocyte/zygote/embryo maturation arrest 17</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=C4225197[DISCUI]&test_type=Clinical" ref="ncbi_uid=896351">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=896351" target="_blank" href="/omim/612399">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&from_uid=896351" ref="ncbi_uid=896351">V</a></span></span><span class="TLline"><a href="/medgen/896351" ref="tree=GTR&ncbi_uid=896351&link_uid=896351" title="View MedGen record for 'Preimplantation embryonic lethality 1'">Preimplantation embryonic lethality 1</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=C4310659[DISCUI]&test_type=Clinical" ref="ncbi_uid=934626">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934626" target="_blank" href="/omim/610363">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&from_uid=934626" ref="ncbi_uid=934626">V</a></span></span><span class="TLline"><a href="/medgen/934626" ref="tree=GTR&ncbi_uid=934626&link_uid=934626" title="View MedGen record for 'Preimplantation embryonic lethality 2'">Preimplantation embryonic lethality 2</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/893170" ref="tree=MeSH" title="MedGen record for Inherited oocyte maturation defect">Inherited oocyte maturation defect</a></span><ul><li><span class="matched_ds">Oocyte maturation defect 9</span></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/1521655">The role of oocyte maturity in the treatment of infertility because of teratozoospermia and normozoospermia with gamete intrafallopian transfer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Merwe JP,
|
||
Kruger TF,
|
||
Swart Y,
|
||
Lombard CJ</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
1992 Sep;58(3):581-6.
|
||
doi: 10.1016/s0015-0282(16)55267-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1521655" target="_blank">1521655</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(oocyte%20maturation%20defect%209)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38678230">Diverse impacts of female chromosomal polymorphisms on assisted reproduction outcomes: a retrospective cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu Y,
|
||
Tian T,
|
||
Chen L,
|
||
Yan L,
|
||
Chang L,
|
||
Qiao J</span><br />
|
||
<span class="medgenPMjournal">BMC Pregnancy Childbirth</span>
|
||
2024 Apr 27;24(1):331.
|
||
doi: 10.1186/s12884-024-06532-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38678230" target="_blank">38678230</a><a href="/pmc/articles/PMC11055351" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38364519">Comparison of luteal phase and follicular phase in-vitro maturation in women with oocyte maturation abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hatirnaz Ş,
|
||
Hatirnaz E,
|
||
Urkmez SS,
|
||
Celik S,
|
||
Urkmez' YC,
|
||
Cao M,
|
||
Tan SL,
|
||
Dahan MH</span><br />
|
||
<span class="medgenPMjournal">Reprod Biomed Online</span>
|
||
2024 Apr;48(4):103648.
|
||
Epub 2023 Oct 29
|
||
doi: 10.1016/j.rbmo.2023.103648.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38364519" target="_blank">38364519</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38194886">Oocyte in-vitro maturation primed with letrozole-HCG versus FSH-HCG in women with oocyte maturation abnormalities: a retrospective study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hatirnaz S,
|
||
Hatirnaz E,
|
||
Urkmez SS,
|
||
Calıskan CS,
|
||
Celik S,
|
||
Hatirnaz K,
|
||
Cao M,
|
||
Tan SL,
|
||
Dahan MH</span><br />
|
||
<span class="medgenPMjournal">Reprod Biomed Online</span>
|
||
2024 Mar;48(3):103620.
|
||
Epub 2023 Oct 14
|
||
doi: 10.1016/j.rbmo.2023.103620.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38194886" target="_blank">38194886</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35917567">Experimentally Induced Hyperglycemia in Prepubertal Phase Impairs Oocyte Quality and Functionality in Adult Mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Predheepan D,
|
||
Daddangadi A,
|
||
Uppangala S,
|
||
Laxminarayana SLK,
|
||
Raval K,
|
||
Kalthur G,
|
||
Kovačič B,
|
||
Adiga SK</span><br />
|
||
<span class="medgenPMjournal">Endocrinology</span>
|
||
2022 Sep 1;163(9)
|
||
doi: 10.1210/endocr/bqac121.
|
||
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<div class="nl"><a target="_blank" href="/pubmed/35917567">Experimentally Induced Hyperglycemia in Prepubertal Phase Impairs Oocyte Quality and Functionality in Adult Mice.</a></div>
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Daddangadi A,
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<div class="nl"><a target="_blank" href="/pubmed/32772081">Exome sequencing links CEP120 mutation to maternally derived aneuploid conception risk.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Tyc KM,
|
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El Yakoubi W,
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Bag A,
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Landis J,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oocyte%20maturation%20defect%209%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 (32)</a></div></div>
|
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|
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(oocyte%20maturation%20defect%209)%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc47b6f4a390645ed4ad74">Oocyte maturation defect 9</a>
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