{"id":593,"date":"2024-01-09T15:37:20","date_gmt":"2024-01-09T21:37:20","guid":{"rendered":"https:\/\/wp.uthscsa.edu\/chromosome-18\/?page_id=593"},"modified":"2024-01-18T14:58:33","modified_gmt":"2024-01-18T20:58:33","slug":"trisomy-18p-summary","status":"publish","type":"page","link":"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/trisomy-18p-summary\/","title":{"rendered":"What is Trisomy 18p: A Sixty-Second Summary"},"content":{"rendered":"<div class=\"wpb-content-wrapper\" id=\"wpb-content-root\"><p>[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_column_text]<\/p>\n<p class=\"p1\">(Aliases: partial trisomy 18)<br \/>\n<strong>ICD-10 = Q93.2<\/strong><\/p>\n<p class=\"p1\"><strong>Trisomy 18p<\/strong><\/p>\n<p class=\"p1\">This a rare condition caused by 3 copies of the short arm (p arm)of chromosome 18. This results in a total of 3 copies of each of the 67 genes on 18p. Little is known about how the presence of three copies of these genes directly relates to the clinical features associated with Trisomy 18p. The information here is based on cases in the medical literature as well as from our own study participants.<\/p>\n<p>[\/vc_column_text][vc_single_image image=&#8221;844&#8243; img_size=&#8221;full&#8221;][vc_column_text]<strong>Key points on genotype<\/strong><\/p>\n<ul>\n<li>There are four chromosome configurations that can lead to Trisomy 18p1. An extra short arm can be translocated to another chromosome usually an acrocentric chromosome<br \/>\n(Chromosome 13, 14 15 or 21)This occurs in 33% of cases.<\/p>\n<p>2. An extra short arm can be a supernumerary chromosome sometimes called a \u201cmarker chromosome.\u201d<br \/>\nThis occurs in 30% of cases.<\/p>\n<p>3. An extra short arm can be duplicated in a tandem or inverted orientation in 26% of cases.<\/p>\n<p>4. The co-occurrence of two separate chromosome changes; an 18p deletion of one chromosome and an isochomosome 18p composed of 2 p arms. The combined result is Trisomy 18p and occurs in 11% of cases.<\/li>\n<li>41% of the cases in the literature were of individuals whose diagnosis was incidental and subsequent to another family member\u2019s diagnosis. They had not come to medical attention on their own.<\/li>\n<li>The familial cases were mothers with the same chromosome change or a parent with a balanced translocation.<\/li>\n<li>Parents may consider chromosome analysis to better define risks for future pregnancies<\/li>\n<\/ul>\n<p><strong>Key Points on phenotype<\/strong><\/p>\n<ul>\n<li>Psychomotor delay is uncommon<\/li>\n<li>Mild cognitive delay is common<\/li>\n<li>Life expectancy is believed to be near normal<\/li>\n<li>Congenital anomalies are uncommon<\/li>\n<\/ul>\n<p><strong>Follow-up<\/strong><\/p>\n<ul>\n<li>Recommendations for specific evaluations and treatments are in the following sections<\/li>\n<\/ul>\n<p><strong>Enrollment<\/strong><\/p>\n<ul>\n<li>The Chromosome 18 Clinical Research Center is enrolling anyone with any chromosome 18 abnormality in our longitudinal study of all aspects of the conditions<\/li>\n<li>Parents may contact Annice Hill at hilla3@uthscsa.edu or call (210) 567-5321<\/li>\n<li>Enrollment requires the diagnostic genetics report and any other informative medical records<\/li>\n<\/ul>\n<p><strong>Consultation<\/strong><\/p>\n<ul>\n<li>Daniel Hale, MD, Medical Director of the Chromosome 18 Clinical Research Center can be reached through Annice Hill at <a href=\"mailto:hilla3@uthscsa.edu\">hilla3@uthscsa.edu<\/a> or call (210) 567-5321<\/li>\n<\/ul>\n<p>Updated 2020[\/vc_column_text][\/vc_column][vc_column width=&#8221;1\/3&#8243;]<nav id=\"subnav\" class=\"null\" aria-label=\"Sub navigation for Chromosome 18 Subnav\"><ul id=\"menu-chromosome-18-subnav\" class=\"subnav vertical menu drilldown\" data-drilldown><li id=\"menu-item-506\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-home menu-item-506\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/\">Home<\/a><\/li>\n<li id=\"menu-item-507\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-507\"><a 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href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/tetrasomy-18p-treatment-and-surveillance-2\/potential-conditions\/\">Potential Conditions in a Neonate<\/a><\/li>\n\t\t\t<li id=\"menu-item-661\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-661\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/tetrasomy-18p-treatment-and-surveillance-2\/immediate-referrals\/\">Immediate Referrals to<\/a><\/li>\n\t\t<\/ul>\n<\/li>\n\t\t<li id=\"menu-item-851\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-851\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/tetrasomy-18p-treatment-and-surveillance-2\/\">Tetrasomy 18p: Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-668\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-668\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/trisomy-18p-summary\/\">What is Trisomy 18p: A Sixty-Second Summary<\/a><\/li>\n\t\t<li id=\"menu-item-664\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-664\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/trisomy-18p-treatment-and-surveillance\/\">Trisomy 18p: Treatment and Surveillance<\/a><\/li>\n\t<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<li id=\"menu-item-512\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-512\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/contact-us\/\">Contact Us<\/a><\/li>\n<li id=\"menu-item-669\" class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-669\"><a href=\"https:\/\/www.chromosome18.org\/\">Chromosome 18 Registry &amp; Research Society<\/a><\/li>\n<\/ul><\/nav> \n        <a class=\"callout panel-mobile text-center colorized\" href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/wp-content\/uploads\/sites\/247\/2024\/01\/Trisomy18p-Sixty-Second-Summary.pdf\" >\n            <span class=\"fa-stack fa-2x\">\n            <i class=\"fas fa-circle fa-stack-2x\"><\/i>\n            <i class=\"fas fa-fas fa-file fa-stack-1x fa-inverse\"><\/i>\n            <\/span><h3 class=\" \">What is Trisomy 18p Sixty Second Summary PDF<\/h3>\n        <\/a>[\/vc_column][\/vc_row]<\/p>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_column_text] (Aliases: partial trisomy 18) ICD-10 = Q93.2 Trisomy 18p This a rare condition caused by 3 copies of the short arm (p arm)of chromosome 18. This results in a total of 3 copies of each of the 67 genes on 18p. Little is known about how the presence of three copies of these [&hellip;]<\/p>\n","protected":false},"author":326,"featured_media":398,"parent":569,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"page-templates\/basic-page.php","meta":{"footnotes":""},"categories":[],"class_list":["post-593","page","type-page","status-publish","has-post-thumbnail","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>What is Trisomy 18p: A Sixty-Second Summary - Chromosome 18<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/trisomy-18p-summary\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"What is Trisomy 18p: A Sixty-Second Summary - Chromosome 18\" \/>\n<meta property=\"og:description\" content=\"[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_column_text] (Aliases: partial trisomy 18) ICD-10 = Q93.2 Trisomy 18p This a rare condition caused by 3 copies of the short arm (p arm)of chromosome 18. This results in a total of 3 copies of each of the 67 genes on 18p. 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This results in a total of 3 copies of each of the 67 genes on 18p. 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