{"id":595,"date":"2024-01-09T15:36:03","date_gmt":"2024-01-09T21:36:03","guid":{"rendered":"https:\/\/wp.uthscsa.edu\/chromosome-18\/?page_id=595"},"modified":"2024-01-18T14:46:33","modified_gmt":"2024-01-18T20:46:33","slug":"18q-summary","status":"publish","type":"page","link":"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/18q-summary\/","title":{"rendered":"What is 18q: 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;835&#8243; img_size=&#8221;full&#8221;][vc_column_text](Aliases: 18q deletion syndrome, partial monosomy 18q, de Grouchy Syndrome, chromosome 18 long-arm deletion syndrome)<br \/>\n<span style=\"text-decoration: underline\">ICD-10 = Q99.9 or Q93.89<\/span><\/p>\n<p><strong>Key points on genotype<\/strong><\/p>\n<ul>\n<li>Every patient has a unique deletion; thus 18q- is not a single \u201csyndrome.\u201d (For guidance developing an individualized\u00a0 gene-based interpretation see subsequent pages.)<\/li>\n<li>Some genotype-phenotype correlations have been established and are explored more in the following pages.<\/li>\n<li>~19% are interstitial deletions<\/li>\n<li>~8% with terminal deletions have\u00a0 duplications just proximal to the breakpoint of up to 15 Mb in size<\/li>\n<li>94% are de novo events as opposed to inherited from a parent with a translocation.<\/li>\n<li>Occurs in 1 out of\u00a0 55,000 live births<\/li>\n<\/ul>\n<p><strong>Key Points on phenotype<\/strong><\/p>\n<ul>\n<li>Multiple congenital anomalies are possible. Specific phenotypes are dependent on the specific genes deleted\u00a0 \u2013 see the section of this report on molecular implications.<\/li>\n<li>Developmental milestones are\u00a0 always delayed\u00a0 but with considerable variability<\/li>\n<li>Intellectual disability is common but not inevitable<\/li>\n<li>Failure to thrive and growth hormone deficiency are common<\/li>\n<li>The risk for autism spectrum is higher than average<\/li>\n<li>Life expectancy is believed to be near normal except for individuals whose deletion includes TCF4.<\/li>\n<li>Deletions that include the TCF4 gene (at band q21.2; or at 52.9 Mb) result in a much more severe phenotype, making it important to\u00a0 determine if someone\u2019s deletion includes this gene.<\/li>\n<\/ul>\n<p><strong>Management<\/strong><\/p>\n<ul>\n<li>Affected individuals\u00a0 are not at increased risk for adverse reactions to drugs or standard medical treatments<\/li>\n<li>Treatment is primarily symptomatic<\/li>\n<li>Recommendations for specific evaluations\u00a0 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 need to contact Annice Hill at\u00a0<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>Then we will schedule a blood draw and shipment<\/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\u00a0<\/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 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 class=\"sub-menu\">\n\t<li id=\"menu-item-640\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-640\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/about-us\/our-team\/\">Our Team<\/a><\/li>\n\t<li id=\"menu-item-639\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-639\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/what-is-chromosome-18-abnormality\/\">What is a Chromosome 18 abnormality?<\/a><\/li>\n<\/ul>\n<\/li>\n<li id=\"menu-item-508\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-508\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/?page_id=408\">Research<\/a>\n<ul class=\"sub-menu\">\n\t<li id=\"menu-item-643\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-643\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/clinical-assessment\/\">Clinical Assessment<\/a>\n\t<ul class=\"sub-menu\">\n\t\t<li 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 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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=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/wp-content\/uploads\/sites\/247\/2024\/01\/18q-Sixty-Second-Summary-PDF.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=\" \">18q 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;835&#8243; img_size=&#8221;full&#8221;][vc_column_text](Aliases: 18q deletion syndrome, partial monosomy 18q, de Grouchy Syndrome, chromosome 18 long-arm deletion syndrome) ICD-10 = Q99.9 or Q93.89 Key points on genotype Every patient has a unique deletion; thus 18q- is not a single \u201csyndrome.\u201d (For guidance developing an individualized\u00a0 gene-based interpretation see subsequent pages.) Some genotype-phenotype correlations have been [&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-595","page","type-page","status-publish","has-post-thumbnail","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.3 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>What is 18q: 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\/18q-summary\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"What is 18q: 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;835&#8243; img_size=&#8221;full&#8221;][vc_column_text](Aliases: 18q deletion syndrome, partial monosomy 18q, de Grouchy Syndrome, chromosome 18 long-arm deletion syndrome) ICD-10 = Q99.9 or Q93.89 Key points on genotype Every patient has a unique deletion; thus 18q- is not a single \u201csyndrome.\u201d (For guidance developing an individualized\u00a0 gene-based interpretation see subsequent pages.) 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img_size=&#8221;full&#8221;][vc_column_text](Aliases: 18q deletion syndrome, partial monosomy 18q, de Grouchy Syndrome, chromosome 18 long-arm deletion syndrome) ICD-10 = Q99.9 or Q93.89 Key points on genotype Every patient has a unique deletion; thus 18q- is not a single \u201csyndrome.\u201d (For guidance developing an individualized\u00a0 gene-based interpretation see subsequent pages.) 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