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<!--
|
||
UID=977694
|
||
ConceptID=CN293936
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Autosomal monosomy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>977694</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN293936</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>Autosomal deletion</td></tr>
|
||
<tr><td colspan="2" class="small"> </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=102020">ORPHA102020</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_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>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0008626[DISCUI]&test_type=Clinical" ref="ncbi_uid=3441">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0008626[DISCUI]&test_type=Research" ref="ncbi_uid=3441">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/3441" ref="tree=GTR&ncbi_uid=3441&link_uid=3441" title="View MedGen record for 'Congenital chromosomal disease'">Congenital chromosomal disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1843454" ref="tree=GTR&ncbi_uid=1843454&link_uid=1843454" title="View MedGen record for 'Autosomal anomaly'">Autosomal anomaly</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN293936[DISCUI]&test_type=Clinical" ref="ncbi_uid=977694">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Autosomal monosomy</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0035639[DISCUI]&test_type=Clinical" ref="ncbi_uid=11248">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/11248" ref="tree=GTR&ncbi_uid=11248&link_uid=11248" title="View MedGen record for 'Ring chromosome'">Ring chromosome</a></span></li></ul></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0969687[DISCUI]&test_type=Clinical" ref="ncbi_uid=199033">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0969687[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=199033">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/199033" ref="tree=GTR&ncbi_uid=199033&link_uid=199033" title="View MedGen record for 'Autosomal chromosomal disorder'">Autosomal chromosomal disorder</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0795849[DISCUI]&test_type=Clinical" ref="ncbi_uid=162780">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/162780" ref="tree=GTR&ncbi_uid=162780&link_uid=162780" title="View MedGen record for 'Chromosome 13q trisomy'">Chromosome 13q trisomy</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0795807[DISCUI]&test_type=Clinical" ref="ncbi_uid=167068">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/167068" ref="tree=GTR&ncbi_uid=167068&link_uid=167068" title="View MedGen record for 'Chromosome 3, trisomy 3p'">Chromosome 3, trisomy 3p</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931575[DISCUI]&test_type=Clinical" ref="ncbi_uid=419839">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/419839" ref="tree=GTR&ncbi_uid=419839&link_uid=419839" title="View MedGen record for 'Chromosome 5, trisomy 5p'">Chromosome 5, trisomy 5p</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0152095[DISCUI]&test_type=Clinical" ref="ncbi_uid=56261">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=56261" ref="ncbi_uid=56261">V</a></span></span><span class="TLline"><a href="/medgen/56261" ref="tree=GTR&ncbi_uid=56261&link_uid=56261" title="View MedGen record for 'Complete trisomy 13 syndrome'">Complete trisomy 13 syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0265479[DISCUI]&test_type=Clinical" ref="ncbi_uid=120542">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/120542" ref="tree=GTR&ncbi_uid=120542&link_uid=120542" title="View MedGen record for 'Complete trisomy 20 syndrome'">Complete trisomy 20 syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0013080[DISCUI]&test_type=Clinical" ref="ncbi_uid=4385">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0013080[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=4385">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=4385" target="_blank" href="/omim/190685">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=4385" ref="ncbi_uid=4385">V</a></span></span><span class="TLline"><a href="/medgen/4385" ref="tree=GTR&ncbi_uid=4385&link_uid=4385" title="View MedGen record for 'Down syndrome'">Down syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/693553" ref="tree=GTR&ncbi_uid=693553&link_uid=693553" title="View MedGen record for 'Translocation Down syndrome'">Translocation Down syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/760825" ref="tree=GTR&ncbi_uid=760825&link_uid=760825" title="View MedGen record for 'Trisomy 21'">Trisomy 21</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0432412[DISCUI]&test_type=Clinical" ref="ncbi_uid=98158">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/98158" ref="tree=GTR&ncbi_uid=98158&link_uid=98158" title="View MedGen record for 'Trisomy 8'">Trisomy 8</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=C4317091[DISCUI]&test_type=Clinical" ref="ncbi_uid=1384417">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1384417" ref="ncbi_uid=1384417">V</a></span></span><span class="TLline"><a href="/medgen/1384417" ref="tree=GTR&ncbi_uid=1384417&link_uid=1384417" title="View MedGen record for 'Trisomy 18'">Trisomy 18</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/988614" ref="tree=GTR&ncbi_uid=988614&link_uid=988614" title="View MedGen record for 'Ring chromosome anomaly'">Ring chromosome anomaly</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0949683[DISCUI]&test_type=Clinical" ref="ncbi_uid=183658">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/183658" ref="tree=GTR&ncbi_uid=183658&link_uid=183658" title="View MedGen record for 'Sex-linked hereditary disorder'">Sex-linked hereditary disorder</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/3441" ref="tree=MeSH" title="MedGen record for Congenital chromosomal disease">Congenital chromosomal disease</a></span><ul><li><span class="TLline"><a href="/medgen/1843454" ref="tree=MeSH" title="MedGen record for Autosomal anomaly">Autosomal anomaly</a></span><ul><li><span class="matched_ds">Autosomal monosomy</span><ul><li><span class="TLline"><a href="/medgen/11248" ref="tree=MeSH" title="MedGen record for Ring chromosome">Ring chromosome</a></span><ul><li><span class="TLline"><a href="/medgen/895673" ref="tree=MeSH" title="MedGen record for Chromosome 8-derived supernumerary ring/marker">Chromosome 8-derived supernumerary ring/marker</a></span></li><li><span class="TLline"><a href="/medgen/274178" ref="tree=MeSH" title="MedGen record for Ring Chromosome 1">Ring Chromosome 1</a></span></li><li><span class="TLline"><a href="/medgen/539215" ref="tree=MeSH" title="MedGen record for Ring chromosome 1">Ring chromosome 1</a></span></li><li><span class="TLline"><a href="/medgen/1642621" ref="tree=MeSH" title="MedGen record for Ring chromosome 2">Ring chromosome 2</a></span></li><li><span class="TLline"><a href="/medgen/1643677" ref="tree=MeSH" title="MedGen record for Ring chromosome 3">Ring chromosome 3</a></span></li><li><span class="TLline"><a href="/medgen/881956" ref="tree=MeSH" title="MedGen record for Ring chromosome 5">Ring chromosome 5</a></span></li><li><span class="TLline"><a href="/medgen/167069" ref="tree=MeSH" title="MedGen record for Ring chromosome 6">Ring chromosome 6</a></span></li><li><span class="TLline"><a href="/medgen/419454" ref="tree=MeSH" title="MedGen record for Ring chromosome 7">Ring chromosome 7</a></span></li><li><span class="TLline"><a href="/medgen/539244" ref="tree=MeSH" title="MedGen record for Ring chromosome 9">Ring chromosome 9</a></span></li><li><span class="TLline"><a href="/medgen/539252" ref="tree=MeSH" title="MedGen record for Ring chromosome 10">Ring chromosome 10</a></span></li><li><span class="TLline"><a href="/medgen/539256" ref="tree=MeSH" title="MedGen record for Ring chromosome 11">Ring chromosome 11</a></span></li><li><span class="TLline"><a href="/medgen/162879" ref="tree=MeSH" title="MedGen record for Ring chromosome 12">Ring chromosome 12</a></span></li><li><span class="TLline"><a href="/medgen/444146" ref="tree=MeSH" title="MedGen record for Ring chromosome 13">Ring chromosome 13</a></span></li><li><span class="TLline"><a href="/medgen/419284" ref="tree=MeSH" title="MedGen record for Ring chromosome 14">Ring chromosome 14</a></span></li><li><span class="TLline"><a href="/medgen/1646359" ref="tree=MeSH" title="MedGen record for Ring chromosome 15">Ring chromosome 15</a></span></li><li><span class="TLline"><a href="/medgen/1641955" ref="tree=MeSH" title="MedGen record for Ring chromosome 16">Ring chromosome 16</a></span></li><li><span class="TLline"><a href="/medgen/419477" ref="tree=MeSH" title="MedGen record for Ring chromosome 17">Ring chromosome 17</a></span></li><li><span class="TLline"><a href="/medgen/539285" ref="tree=MeSH" title="MedGen record for Ring chromosome 18">Ring chromosome 18</a></span></li><li><span class="TLline"><a href="/medgen/419501" ref="tree=MeSH" title="MedGen record for Ring chromosome 19">Ring chromosome 19</a></span></li><li><span class="TLline"><a href="/medgen/489853" ref="tree=MeSH" title="MedGen record for Ring chromosome 20 syndrome">Ring chromosome 20 syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419409" ref="tree=MeSH" title="MedGen record for Ring chromosome 21">Ring chromosome 21</a></span></li><li><span class="TLline"><a href="/medgen/539299" ref="tree=MeSH" title="MedGen record for Ring chromosome 22">Ring chromosome 22</a></span></li><li><span class="TLline"><a href="/medgen/75571" ref="tree=MeSH" title="MedGen record for Ring chromosome 4 syndrome">Ring chromosome 4 syndrome</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/35849469">Incidental Detection of Maternal Malignancy by Fetal Cell-Free DNA Screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rink BD,
|
||
Stevens BK,
|
||
Norton ME</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol</span>
|
||
2022 Jul 1;140(1):121-131.
|
||
Epub 2022 Jun 7
|
||
doi: 10.1097/AOG.0000000000004833.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35849469" target="_blank">35849469</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29164644">Should embryos with autosomal monosomy by preimplantation genetic testing for aneuploidy be transferred?: Implications for embryo selection from a systematic literature review of autosomal monosomy survivors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bunnell ME,
|
||
Wilkins-Haug L,
|
||
Reiss R</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2017 Dec;37(13):1273-1280.
|
||
doi: 10.1002/pd.5185.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29164644" target="_blank">29164644</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26785403">Follow-up of multiple aneuploidies and single monosomies detected by noninvasive prenatal testing: implications for management and counseling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Snyder HL,
|
||
Curnow KJ,
|
||
Bhatt S,
|
||
Bianchi DW</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2016 Mar;36(3):203-9.
|
||
Epub 2016 Feb 8
|
||
doi: 10.1002/pd.4778.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26785403" target="_blank">26785403</a><a href="/pmc/articles/PMC5067681" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22autosomal%20monosomy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (3)</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/37650670">Chorionic Villous Testing Versus Amniocentesis After Abnormal Noninvasive Prenatal Testing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rogers R,
|
||
Mardy A</span><br />
|
||
<span class="medgenPMjournal">Clin Obstet Gynecol</span>
|
||
2023 Sep 1;66(3):595-606.
|
||
Epub 2023 Jul 17
|
||
doi: 10.1097/GRF.0000000000000801.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37650670" target="_blank">37650670</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35849469">Incidental Detection of Maternal Malignancy by Fetal Cell-Free DNA Screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rink BD,
|
||
Stevens BK,
|
||
Norton ME</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol</span>
|
||
2022 Jul 1;140(1):121-131.
|
||
Epub 2022 Jun 7
|
||
doi: 10.1097/AOG.0000000000004833.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35849469" target="_blank">35849469</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31722585">Cell-free DNA analysis in maternal blood: comparing genome-wide versus targeted approach as a first-line screening test.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Wergifosse S,
|
||
Bevilacqua E,
|
||
Mezela I,
|
||
El Haddad S,
|
||
Gounongbe C,
|
||
de Marchin J,
|
||
Maggi V,
|
||
Conotte S,
|
||
Badr DA,
|
||
Fils JF,
|
||
Guizani M,
|
||
Jani JC</span><br />
|
||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
|
||
2021 Nov;34(21):3552-3561.
|
||
Epub 2019 Nov 13
|
||
doi: 10.1080/14767058.2019.1686478.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31722585" target="_blank">31722585</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29164644">Should embryos with autosomal monosomy by preimplantation genetic testing for aneuploidy be transferred?: Implications for embryo selection from a systematic literature review of autosomal monosomy survivors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bunnell ME,
|
||
Wilkins-Haug L,
|
||
Reiss R</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2017 Dec;37(13):1273-1280.
|
||
doi: 10.1002/pd.5185.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29164644" target="_blank">29164644</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3193408">Chromosome anomalies in early human embryos.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Angell RR,
|
||
Hillier SG,
|
||
West JD,
|
||
Glasier AF,
|
||
Rodger MW,
|
||
Baird DT</span><br />
|
||
<span class="medgenPMjournal">J Reprod Fertil Suppl</span>
|
||
1988;36:73-81.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3193408" target="_blank">3193408</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20monosomy%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 (12)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37650670">Chorionic Villous Testing Versus Amniocentesis After Abnormal Noninvasive Prenatal Testing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rogers R,
|
||
Mardy A</span><br />
|
||
<span class="medgenPMjournal">Clin Obstet Gynecol</span>
|
||
2023 Sep 1;66(3):595-606.
|
||
Epub 2023 Jul 17
|
||
doi: 10.1097/GRF.0000000000000801.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37650670" target="_blank">37650670</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35849469">Incidental Detection of Maternal Malignancy by Fetal Cell-Free DNA Screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rink BD,
|
||
Stevens BK,
|
||
Norton ME</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol</span>
|
||
2022 Jul 1;140(1):121-131.
|
||
Epub 2022 Jun 7
|
||
doi: 10.1097/AOG.0000000000004833.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35849469" target="_blank">35849469</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31722585">Cell-free DNA analysis in maternal blood: comparing genome-wide versus targeted approach as a first-line screening test.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Wergifosse S,
|
||
Bevilacqua E,
|
||
Mezela I,
|
||
El Haddad S,
|
||
Gounongbe C,
|
||
de Marchin J,
|
||
Maggi V,
|
||
Conotte S,
|
||
Badr DA,
|
||
Fils JF,
|
||
Guizani M,
|
||
Jani JC</span><br />
|
||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
|
||
2021 Nov;34(21):3552-3561.
|
||
Epub 2019 Nov 13
|
||
doi: 10.1080/14767058.2019.1686478.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31722585" target="_blank">31722585</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26785403">Follow-up of multiple aneuploidies and single monosomies detected by noninvasive prenatal testing: implications for management and counseling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Snyder HL,
|
||
Curnow KJ,
|
||
Bhatt S,
|
||
Bianchi DW</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2016 Mar;36(3):203-9.
|
||
Epub 2016 Feb 8
|
||
doi: 10.1002/pd.4778.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26785403" target="_blank">26785403</a><a href="/pmc/articles/PMC5067681" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26596971">Decitabine improves progression-free survival in older high-risk MDS patients with multiple autosomal monosomies: results of a subgroup analysis of the randomized phase III study 06011 of the EORTC Leukemia Cooperative Group and German MDS Study Group.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lübbert M,
|
||
Suciu S,
|
||
Hagemeijer A,
|
||
Rüter B,
|
||
Platzbecker U,
|
||
Giagounidis A,
|
||
Selleslag D,
|
||
Labar B,
|
||
Germing U,
|
||
Salih HR,
|
||
Muus P,
|
||
Pflüger KH,
|
||
Schaefer HE,
|
||
Bogatyreva L,
|
||
Aul C,
|
||
de Witte T,
|
||
Ganser A,
|
||
Becker H,
|
||
Huls G,
|
||
van der Helm L,
|
||
Vellenga E,
|
||
Baron F,
|
||
Marie JP,
|
||
Wijermans PW;
|
||
EORTC Leukemia Group and the German MDS Study Group</span><br />
|
||
<span class="medgenPMjournal">Ann Hematol</span>
|
||
2016 Jan;95(2):191-9.
|
||
Epub 2015 Nov 23
|
||
doi: 10.1007/s00277-015-2547-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26596971" target="_blank">26596971</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20monosomy%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 (7)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26596971">Decitabine improves progression-free survival in older high-risk MDS patients with multiple autosomal monosomies: results of a subgroup analysis of the randomized phase III study 06011 of the EORTC Leukemia Cooperative Group and German MDS Study Group.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lübbert M,
|
||
Suciu S,
|
||
Hagemeijer A,
|
||
Rüter B,
|
||
Platzbecker U,
|
||
Giagounidis A,
|
||
Selleslag D,
|
||
Labar B,
|
||
Germing U,
|
||
Salih HR,
|
||
Muus P,
|
||
Pflüger KH,
|
||
Schaefer HE,
|
||
Bogatyreva L,
|
||
Aul C,
|
||
de Witte T,
|
||
Ganser A,
|
||
Becker H,
|
||
Huls G,
|
||
van der Helm L,
|
||
Vellenga E,
|
||
Baron F,
|
||
Marie JP,
|
||
Wijermans PW;
|
||
EORTC Leukemia Group and the German MDS Study Group</span><br />
|
||
<span class="medgenPMjournal">Ann Hematol</span>
|
||
2016 Jan;95(2):191-9.
|
||
Epub 2015 Nov 23
|
||
doi: 10.1007/s00277-015-2547-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26596971" target="_blank">26596971</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23317194">Monosomal karyotypes among 1147 Chinese patients with acute myeloid leukemia: prevalence, features and prognostic impact.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang XF,
|
||
Sun AN,
|
||
Yin J,
|
||
Cai CS,
|
||
Tian XP,
|
||
Qian J,
|
||
Chen SN,
|
||
Wu DP</span><br />
|
||
<span class="medgenPMjournal">Asian Pac J Cancer Prev</span>
|
||
2012;13(11):5421-6.
|
||
doi: 10.7314/apjcp.2012.13.11.5421.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23317194" target="_blank">23317194</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5676342">Autosomal monosomy mosaicism in human bone marrow aspirate. Report of a case.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Long DL,
|
||
Pierre RV</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Pathol</span>
|
||
1968 Oct;50(4):482-4.
|
||
doi: 10.1093/ajcp/50.4.482.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5676342" target="_blank">5676342</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20monosomy%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27784745">Mutational Landscape and Gene Expression Patterns in Adult Acute Myeloid Leukemias with Monosomy 7 as a Sole Abnormality.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eisfeld AK,
|
||
Kohlschmidt J,
|
||
Mrózek K,
|
||
Volinia S,
|
||
Blachly JS,
|
||
Nicolet D,
|
||
Oakes C,
|
||
Kroll K,
|
||
Orwick S,
|
||
Carroll AJ,
|
||
Stone RM,
|
||
Byrd JC,
|
||
de la Chapelle A,
|
||
Bloomfield CD</span><br />
|
||
<span class="medgenPMjournal">Cancer Res</span>
|
||
2017 Jan 1;77(1):207-218.
|
||
Epub 2016 Oct 26
|
||
doi: 10.1158/0008-5472.CAN-16-1386.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27784745" target="_blank">27784745</a><a href="/pmc/articles/PMC5215102" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26785403">Follow-up of multiple aneuploidies and single monosomies detected by noninvasive prenatal testing: implications for management and counseling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Snyder HL,
|
||
Curnow KJ,
|
||
Bhatt S,
|
||
Bianchi DW</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2016 Mar;36(3):203-9.
|
||
Epub 2016 Feb 8
|
||
doi: 10.1002/pd.4778.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26785403" target="_blank">26785403</a><a href="/pmc/articles/PMC5067681" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23317194">Monosomal karyotypes among 1147 Chinese patients with acute myeloid leukemia: prevalence, features and prognostic impact.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang XF,
|
||
Sun AN,
|
||
Yin J,
|
||
Cai CS,
|
||
Tian XP,
|
||
Qian J,
|
||
Chen SN,
|
||
Wu DP</span><br />
|
||
<span class="medgenPMjournal">Asian Pac J Cancer Prev</span>
|
||
2012;13(11):5421-6.
|
||
doi: 10.7314/apjcp.2012.13.11.5421.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23317194" target="_blank">23317194</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18695255">Monosomal karyotype in acute myeloid leukemia: a better indicator of poor prognosis than a complex karyotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Breems DA,
|
||
Van Putten WL,
|
||
De Greef GE,
|
||
Van Zelderen-Bhola SL,
|
||
Gerssen-Schoorl KB,
|
||
Mellink CH,
|
||
Nieuwint A,
|
||
Jotterand M,
|
||
Hagemeijer A,
|
||
Beverloo HB,
|
||
Löwenberg B</span><br />
|
||
<span class="medgenPMjournal">J Clin Oncol</span>
|
||
2008 Oct 10;26(29):4791-7.
|
||
Epub 2008 Aug 11
|
||
doi: 10.1200/JCO.2008.16.0259.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18695255" target="_blank">18695255</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7506129">Application of molecular and cytogenetic techniques to the detection of a de novo unbalanced t(11q;21q) in a patient previously diagnosed as having monosomy 21.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hertz B,
|
||
Brandt CA,
|
||
Petersen MB,
|
||
Pedersen S,
|
||
König U,
|
||
Strømkjaer H,
|
||
Jensen PK</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
1993 Aug;44(2):89-94.
|
||
doi: 10.1111/j.1399-0004.1993.tb03853.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7506129" target="_blank">7506129</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20monosomy%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31722585">Cell-free DNA analysis in maternal blood: comparing genome-wide versus targeted approach as a first-line screening test.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Wergifosse S,
|
||
Bevilacqua E,
|
||
Mezela I,
|
||
El Haddad S,
|
||
Gounongbe C,
|
||
de Marchin J,
|
||
Maggi V,
|
||
Conotte S,
|
||
Badr DA,
|
||
Fils JF,
|
||
Guizani M,
|
||
Jani JC</span><br />
|
||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
|
||
2021 Nov;34(21):3552-3561.
|
||
Epub 2019 Nov 13
|
||
doi: 10.1080/14767058.2019.1686478.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31722585" target="_blank">31722585</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18695255">Monosomal karyotype in acute myeloid leukemia: a better indicator of poor prognosis than a complex karyotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Breems DA,
|
||
Van Putten WL,
|
||
De Greef GE,
|
||
Van Zelderen-Bhola SL,
|
||
Gerssen-Schoorl KB,
|
||
Mellink CH,
|
||
Nieuwint A,
|
||
Jotterand M,
|
||
Hagemeijer A,
|
||
Beverloo HB,
|
||
Löwenberg B</span><br />
|
||
<span class="medgenPMjournal">J Clin Oncol</span>
|
||
2008 Oct 10;26(29):4791-7.
|
||
Epub 2008 Aug 11
|
||
doi: 10.1200/JCO.2008.16.0259.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18695255" target="_blank">18695255</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12470531">Impact of parental gonosomal mosaicism detected in peripheral blood on preimplantation embryos.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magli MC,
|
||
Gianaroli L,
|
||
Ferraretti AP,
|
||
Gordts S,
|
||
Feliciani E</span><br />
|
||
<span class="medgenPMjournal">Reprod Biomed Online</span>
|
||
2002 Nov-Dec;5(3):306-12.
|
||
doi: 10.1016/s1472-6483(10)61837-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12470531" target="_blank">12470531</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4442701">Nature and consequences of induced chromosome damage in mammals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Searle AG</span><br />
|
||
<span class="medgenPMjournal">Genetics</span>
|
||
1974 Sep;78(1):173-86.
|
||
doi: 10.1093/genetics/78.1.173.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4442701" target="_blank">4442701</a><a href="/pmc/articles/PMC1213177" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20monosomy%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 (4)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/29164644">Should embryos with autosomal monosomy by preimplantation genetic testing for aneuploidy be transferred?: Implications for embryo selection from a systematic literature review of autosomal monosomy survivors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bunnell ME,
|
||
Wilkins-Haug L,
|
||
Reiss R</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2017 Dec;37(13):1273-1280.
|
||
doi: 10.1002/pd.5185.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29164644" target="_blank">29164644</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20monosomy%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 (1)</a></div></div>
|
||
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|
||
</div></div></div></div></div></div></div>
|
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|
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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=CN293936%5bDISCUI%5d&filter=method%3A3%5F32" target="_blank">Karyotyping (8)</a></li>
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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=(%22autosomal%20monosomy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">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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