{"id":596,"date":"2024-01-09T15:35:40","date_gmt":"2024-01-09T21:35:40","guid":{"rendered":"https:\/\/wp.uthscsa.edu\/chromosome-18\/?page_id=596"},"modified":"2024-01-18T14:27:16","modified_gmt":"2024-01-18T20:27:16","slug":"18p-summary","status":"publish","type":"page","link":"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/18p-summary\/","title":{"rendered":"What is 18p: A Sixty-Second Summary"},"content":{"rendered":"<div class=\"wpb-content-wrapper\"><p>[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_single_image image=&#8221;832&#8243; img_size=&#8221;full&#8221;][vc_column_text](Aliases: 18p deletion, 18p- syndrome, partial monosomy 18p, de Grouchy Syndrome type 1)<\/p>\n<p>ICD-10 = Q99.9 or Q93.89[\/vc_column_text][vc_column_text]<strong>Key points on genotype<\/strong><\/p>\n<ul>\n<li>People with 18p deletions have some degree of genetic homogeneity. About half of the people have breakpoints\u00a0 in the centromere\u00a0 region and are missing all the genes on 18p. The remainder of the\u00a0 people have breakpoints scattered along the entirety of the short arm and therefore each have a different set of genes deleted.<\/li>\n<li>89% are de novo events as opposed to inherited from a parent with a translocation.<\/li>\n<li>All parents should be genotyped for balanced rearrangements.<\/li>\n<\/ul>\n<p><strong>Key Points on phenotype<\/strong><\/p>\n<ul>\n<li>Developmental delay is very common and is often the reason for initial detection.<\/li>\n<li>The average full scale IQ score\u00a0 is\u00a0 69 with a range from 51 to 99.<\/li>\n<li>Life expectancy is believed to be near normal .<\/li>\n<li>Multiple congenital anomalies are possible. Specific phenotypes are determined by\u00a0 the specific genes deleted\u00a0 \u2013 see the section of this report on molecular implications.<\/li>\n<\/ul>\n<p><strong>Follow-up<\/strong><\/p>\n<ul>\n<li>Affected individuals do not appear to be at increased risk for adverse reactions to drugs or standard medical treatments<\/li>\n<li>Recommendations for specific evaluations\u00a0 and treatments are on the following pages<\/li>\n<\/ul>\n<p><strong>Enrollment<\/strong><\/p>\n<ul>\n<li>The Chromosome 18 Clinical Research Center is enrolling everyone with a chromosome 18 abnormality in our longitudinal study of all aspects of the conditions.<\/li>\n<li>To enroll, parents need to contact Annice Hill at <a href=\"mailto:hilla3@uthscsa.edu\">hilla3@uthscsa.edu<\/a> or call (210) 567-5321<\/li>\n<li>We need the diagnostic genetics report and any other informative medical records<\/li>\n<li>Once received\u00a0 we will\u00a0 send a kit for the blood sample.<\/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\u00a0<a href=\"mailto:hilla3@uthscsa.edu\">hilla3@uthscsa.edu<\/a>\u00a0or 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 accordion-menu\" data-accordion-menu><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 href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/about-us\/\">About Us<\/a>\n<ul 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id=\"menu-item-644\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-644\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/clinical-assessment\/evaluation\/\">Evaluation Purpose and Procedures<\/a><\/li>\n\t<\/ul>\n<\/li>\n\t<li id=\"menu-item-645\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-645\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/clinical-dosage-map-instructions\/\">Clinical Dosage Map Instructions<\/a><\/li>\n\t<li id=\"menu-item-646\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-646\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/deletion-clinical-dosage-map-legend\/\">Deletion Clinical Dosage Map Legend<\/a><\/li>\n\t<li id=\"menu-item-647\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-647\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/research-1\/gene-dosage-track-legend\/\">Gene Dosage Track Legend<\/a><\/li>\n\t<li id=\"menu-item-648\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-648\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/research-1\/path-to-treatment\/\">Path to Treatment<\/a><\/li>\n\t<li id=\"menu-item-649\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-649\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/?page_id=561\">Phenotype Track<\/a>\n\t<ul class=\"sub-menu\">\n\t\t<li id=\"menu-item-858\" class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-858\"><a href=\"https:\/\/genome.ucsc.edu\/cgi-bin\/hgTracks?db=hg19&#038;lastVirtModeType=default&#038;lastVirtModeExtraState=&#038;virtModeType=default&#038;virtMode=0&#038;nonVirtPosition=&#038;position=chr18%3A1%2D78077248&#038;hgsid=1884264926_hn6iHMJzv9LO3nFmOdJiwp3soiMC\">Phenotype Deletion Map<\/a><\/li>\n\t\t<li id=\"menu-item-859\" class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-859\"><a href=\"https:\/\/genome.ucsc.edu\/cgi-bin\/hgTracks?db=hg19&#038;lastVirtModeType=default&#038;lastVirtModeExtraState=&#038;virtModeType=default&#038;virtMode=0&#038;nonVirtPosition=&#038;position=chr18%3A1%2D78077248&#038;hgsid=1884265652_EZW3C1gYccZy8K8mq1vjkNvPnA1w\">Phenotype Duplication Map<\/a><\/li>\n\t<\/ul>\n<\/li>\n\t<li id=\"menu-item-735\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-735\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/research-1\/publications\/\">Publications<\/a><\/li>\n<\/ul>\n<\/li>\n<li id=\"menu-item-509\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-509\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/our-program\/\">Our Program<\/a>\n<ul class=\"sub-menu\">\n\t<li id=\"menu-item-650\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-650\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/our-program\/current-studies\/\">Current Studies<\/a><\/li>\n<\/ul>\n<\/li>\n<li id=\"menu-item-510\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-510\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/enrollment\/\">Enrollment<\/a><\/li>\n<li id=\"menu-item-511\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-511\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/\">Resources<\/a>\n<ul class=\"sub-menu\">\n\t<li id=\"menu-item-651\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-651\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/\">Clinical Management Guides<\/a>\n\t<ul class=\"sub-menu\">\n\t\t<li id=\"menu-item-666\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-666\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/18q-summary\/\">What is 18q: A Sixty-Second Summary<\/a><\/li>\n\t\t<li id=\"menu-item-656\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-656\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/distal-18q-treatment-and-surveillance\/\">Distal 18q- Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-657\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-657\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/proximal-18q-treatment-and-surveillance\/\">Proximal 18q- Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-667\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-667\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/ring-18-summary\/\">What is Ring 18: A Sixty-Second Summary<\/a><\/li>\n\t\t<li id=\"menu-item-659\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-659\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/ring-18-treatment-and-surveillance-2\/\">Ring 18- Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-850\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-850\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/ring-18-distal-treatment-and-surveillance\/\">Ring 18 Distal- Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-665\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-665\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/18p-summary\/\">What is 18p: A Sixty-Second Summary<\/a><\/li>\n\t\t<li id=\"menu-item-655\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-655\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/18p-treatment-surveillance\/\">18p- Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-660\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-660\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/tetrasomy-18p-summary\/\">Tetrasomy 18p: Sixty-Second Summary<\/a>\n\t\t<ul class=\"sub-menu\">\n\t\t\t<li id=\"menu-item-662\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-662\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/tetrasomy-18p-treatment-and-surveillance-2\/initial-evaluations\/\">Initial Evaluations After Diagnosis<\/a><\/li>\n\t\t\t<li id=\"menu-item-663\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-663\"><a 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=\"\" >\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=\" \">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_single_image image=&#8221;832&#8243; img_size=&#8221;full&#8221;][vc_column_text](Aliases: 18p deletion, 18p- syndrome, partial monosomy 18p, de Grouchy Syndrome type 1) ICD-10 = Q99.9 or Q93.89[\/vc_column_text][vc_column_text]Key points on genotype People with 18p deletions have some degree of genetic homogeneity. About half of the people have breakpoints\u00a0 in the centromere\u00a0 region and are missing all the genes on 18p. The remainder [&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-596","page","type-page","status-publish","has-post-thumbnail","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>What is 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\/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 18p: A Sixty-Second Summary - Chromosome 18\" \/>\n<meta property=\"og:description\" content=\"[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_single_image image=&#8221;832&#8243; img_size=&#8221;full&#8221;][vc_column_text](Aliases: 18p deletion, 18p- syndrome, partial monosomy 18p, de Grouchy Syndrome type 1) ICD-10 = Q99.9 or Q93.89[\/vc_column_text][vc_column_text]Key points on genotype People with 18p deletions have some degree of genetic homogeneity. About half of the people have breakpoints\u00a0 in the centromere\u00a0 region and are missing all the genes on 18p. 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