{"id":567,"date":"2024-01-09T15:23:29","date_gmt":"2024-01-09T21:23:29","guid":{"rendered":"https:\/\/wp.uthscsa.edu\/chromosome-18\/?page_id=567"},"modified":"2024-01-18T09:08:02","modified_gmt":"2024-01-18T15:08:02","slug":"18p-treatment-surveillance","status":"publish","type":"page","link":"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/18p-treatment-surveillance\/","title":{"rendered":"18p- Treatment and Surveillance"},"content":{"rendered":"<div class=\"wpb-content-wrapper\"><p>[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_column_text]<u><img loading=\"lazy\" decoding=\"async\" class=\"alignright wp-image-774\" src=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/wp-content\/uploads\/sites\/247\/2024\/01\/Screen-Shot-2021-05-17-at-4.25.44-PM-434x400.png\" alt=\"\" width=\"326\" height=\"300\" srcset=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/wp-content\/uploads\/sites\/247\/2024\/01\/Screen-Shot-2021-05-17-at-4.25.44-PM-434x400.png 434w, https:\/\/wp.uthscsa.edu\/chromosome-18\/wp-content\/uploads\/sites\/247\/2024\/01\/Screen-Shot-2021-05-17-at-4.25.44-PM-597x550.png 597w, https:\/\/wp.uthscsa.edu\/chromosome-18\/wp-content\/uploads\/sites\/247\/2024\/01\/Screen-Shot-2021-05-17-at-4.25.44-PM-768x707.png 768w, https:\/\/wp.uthscsa.edu\/chromosome-18\/wp-content\/uploads\/sites\/247\/2024\/01\/Screen-Shot-2021-05-17-at-4.25.44-PM-640x589.png 640w, https:\/\/wp.uthscsa.edu\/chromosome-18\/wp-content\/uploads\/sites\/247\/2024\/01\/Screen-Shot-2021-05-17-at-4.25.44-PM.png 834w\" sizes=\"auto, (max-width: 639px) 98vw, (max-width: 1199px) 64vw, 326px\" \/>ICD-10 = Q99.9 or Q93.89<\/u><\/p>\n<p><i>These recommendations are inclusive of the entire population of people with 18p deletions. Even though about half of this group have deletions of the entire short arm of the chromosome and the other half have individually unique deletion of only a portion of the chromosome arm. Consequently, not everyone with 18p- has exactly the same genes that are hemizygous. The specific hemizygous genes for an individual patient will dictate the probability of particular phenotypes. However, the information in this document includes the global 18p- evaluation and management plan.<\/i>[\/vc_column_text][vc_row_inner][vc_column_inner width=&#8221;1\/2&#8243;][vc_column_text]<strong><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/18p-treatment-surveillance\/structural-functional-biochemical\/\">Potential conditions in a neonate<\/a><\/strong><\/p>\n<ul>\n<li>Structural\n<ul>\n<li>Hernias (inguinal, umbilical)<\/li>\n<li>Heart abnormalities<\/li>\n<li>Cryptorchidism<\/li>\n<li>Sacral agenesis \/ myelomeningocele<\/li>\n<\/ul>\n<\/li>\n<li>FunctionalRespiratory\n<ul>\n<li>Feeding problems<\/li>\n<li>Hypotonia<\/li>\n<\/ul>\n<\/li>\n<li>Biochemical\n<ul>\n<li>Jaundice<\/li>\n<li>Hypoglycemia<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p><strong>Initial evaluations after diagnosis<\/strong><\/p>\n<ul>\n<li>Cerebral MRI-abnormalities \u2013 &gt;70%<\/li>\n<li>Ophthalmology exam-\n<ul>\n<li>ptosis-47%<\/li>\n<li>vision and optic problems \u2013 &gt;38%<\/li>\n<\/ul>\n<\/li>\n<li>Audiology evaluation \u2013 hearing deficits-22%<\/li>\n<li>Thyroid evaluation-<\/li>\n<li>thyroid problems-17%<\/li>\n<li>Cardiology exam-cardiac defects-45%<\/li>\n<li>Orthopedic exam-orthopedic problems 47%<\/li>\n<li>Renal ultrasound-hydronephrosis or malformations-14%<\/li>\n<\/ul>\n<p><strong>Referrals to<\/strong><\/p>\n<ul>\n<li>Appropriate sub-specialist as indicated by initial evaluations<\/li>\n<li>Genetics Follow -up if not previous to diagnosis<\/li>\n<li>Early intervention\/developmental services<\/li>\n<li>The Chromosome 18 Registry &amp; Research Society<\/li>\n<li>The Chromosome 18 Clinical Research Center<\/li>\n<\/ul>\n<p>[\/vc_column_text][\/vc_column_inner][vc_column_inner width=&#8221;1\/2&#8243;][vc_column_text]<strong>Closely monitor and manage<\/strong><\/p>\n<ul>\n<li>Failure to thrive\/growth failure\n<ul>\n<li>Weight gain<\/li>\n<li>Linear growth<\/li>\n<\/ul>\n<\/li>\n<li>Ear infections<\/li>\n<li>Immunology\/Rheumatology\n<ul>\n<li>Atopic disorders<\/li>\n<li>Arthritis<\/li>\n<li>Other autoimmune conditions<\/li>\n<\/ul>\n<\/li>\n<li>Orthopedics\n<ul>\n<li>Scoliosis or kyphosis<\/li>\n<li>Sacral agenesis<\/li>\n<\/ul>\n<\/li>\n<li>Development\n<ul>\n<li>Milestones<\/li>\n<li>Psychmetric data<\/li>\n<li>Current Adult Status<\/li>\n<\/ul>\n<\/li>\n<li>Neurology\n<ul>\n<li>Seizure disorder<\/li>\n<li>Balance problems<\/li>\n<li>Muscle weakness<\/li>\n<li>Hypotonia<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>Annual Screenings<\/p>\n<ul>\n<li>Thyroid<\/li>\n<li>Vision<\/li>\n<li>Hearing<\/li>\n<\/ul>\n<p>Current Adult Status<\/p>\n<p>Age and Cause of Death<\/p>\n<p>Updated 2020[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_row_inner][vc_column_inner][vc_column_text]There is additional information on each of the areas mentioned above within the\u00a0<a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/wp-content\/uploads\/sites\/247\/2024\/01\/18p-Treatment-and-Surveillance.pdf\">downloadable PDF document<\/a>.<\/p>\n<p>Updated 2020[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][\/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 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 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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 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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 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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\/18p-Treatment-and-Surveillance.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=\" \">18p- Treatment &amp; Surveillance 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]ICD-10 = Q99.9 or Q93.89 These recommendations are inclusive of the entire population of people with 18p deletions. Even though about half of this group have deletions of the entire short arm of the chromosome and the other half have individually unique deletion of only a portion of the chromosome arm. Consequently, not everyone [&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-567","page","type-page","status-publish","has-post-thumbnail","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.0 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>18p- Treatment and Surveillance - 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-treatment-surveillance\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"18p- Treatment and Surveillance - Chromosome 18\" \/>\n<meta property=\"og:description\" content=\"[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_column_text]ICD-10 = Q99.9 or Q93.89 These recommendations are inclusive of the entire population of people with 18p deletions. Even though about half of this group have deletions of the entire short arm of the chromosome and the other half have individually unique deletion of only a portion of the chromosome arm. 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