{"id":573,"date":"2024-01-09T15:26:06","date_gmt":"2024-01-09T21:26:06","guid":{"rendered":"https:\/\/wp.uthscsa.edu\/chromosome-18\/?page_id=573"},"modified":"2024-01-18T09:32:34","modified_gmt":"2024-01-18T15:32:34","slug":"proximal-18q-treatment-and-surveillance","status":"publish","type":"page","link":"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/proximal-18q-treatment-and-surveillance\/","title":{"rendered":"Proximal 18q- Treatment and Surveillance"},"content":{"rendered":"<div class=\"wpb-content-wrapper\" id=\"wpb-content-root\"><p>[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_column_text]<u><img loading=\"lazy\" decoding=\"async\" class=\"alignright wp-image-804\" src=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/wp-content\/uploads\/sites\/247\/2024\/01\/Proximal18q-_ideogramB-1-411x400.png\" alt=\"\" width=\"308\" height=\"300\" srcset=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/wp-content\/uploads\/sites\/247\/2024\/01\/Proximal18q-_ideogramB-1-411x400.png 411w, https:\/\/wp.uthscsa.edu\/chromosome-18\/wp-content\/uploads\/sites\/247\/2024\/01\/Proximal18q-_ideogramB-1.png 566w\" sizes=\"auto, (max-width: 639px) 98vw, (max-width: 1199px) 64vw, 308px\" \/>ICD-10 = Q99.9 or Q93.89<\/u><\/p>\n<p>These recommendations are inclusive of the entire population of people with\u00a0 Proximal 18q deletions even though each person has a unique deletion. Therefore each person\u2019s deletion could have different genes that are hemizygous. The specific hemizygous genes for an individual patient will dictate the probability of particular phenotypes. Guidance for creating an individualized plan for evaluation and management based on the person\u2019s specific deletion can be found in the next section. However, the information in this document\u00a0 encompasses the global proximal 18q- evaluation and management plan.[\/vc_column_text][vc_row_inner][vc_column_inner width=&#8221;1\/2&#8243;][vc_column_text]<strong>Potential conditions in a neonate<\/strong><\/p>\n<ul>\n<li>Structural\n<ul>\n<li>Palate abnormality<\/li>\n<\/ul>\n<\/li>\n<li>Functional\n<ul>\n<li>Respiratory<\/li>\n<li>Feeding difficulties<\/li>\n<li>Central apnea<\/li>\n<li>Hypotonia<\/li>\n<\/ul>\n<\/li>\n<li>Biochemical\n<ul>\n<li>Jaundice<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p><strong>Initial evaluations after diagnosis<\/strong><\/p>\n<ul>\n<li>Cardiology evaluation \u2013 50% have cardiac defects<\/li>\n<li>Hearing evaluation \u2013 30% with hearing deficits<\/li>\n<li>Renal ultrasound \u2013 43% with reflux<\/li>\n<li>Vision evaluation \u2013 64% with optic problems<\/li>\n<li>MRI- 62% abnormal findings<\/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\n<ul>\n<li>Parents genotyped for balanced rearrangements<\/li>\n<\/ul>\n<\/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>Sinus\/ ear infections<\/li>\n<li>Genitourinary\n<ul>\n<li>Reflux<\/li>\n<\/ul>\n<\/li>\n<li>Gastrointestinal<\/li>\n<li>Immunology\/Rheumatology\n<ul>\n<li>Atopic disorders<\/li>\n<\/ul>\n<\/li>\n<li>Orthopedics\n<ul>\n<li>Scoliosis<\/li>\n<\/ul>\n<\/li>\n<li>Respiratory issues<\/li>\n<li>Neurology\n<ul>\n<li>Seizure disorder<\/li>\n<li>Tremors<\/li>\n<li>Hypotonia<\/li>\n<\/ul>\n<\/li>\n<li>Development\n<ul>\n<li>Milestones<\/li>\n<li>Psychometric data<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>Annual Screenings<\/p>\n<ul>\n<li>Vision<\/li>\n<li>Hearing<\/li>\n<\/ul>\n<p>Current Adult Status<\/p>\n<p>Age and Cause of Death[\/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\/Prox-18q-Management-Guidlines-8-2020.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\" 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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\/Prox-18q-Management-Guidlines-8-2020.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=\" \">Proximal 18q- Treatment &amp; Surveilllance 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\u00a0 Proximal 18q deletions even though each person has a unique deletion. Therefore each person\u2019s deletion could have different genes that are hemizygous. The specific hemizygous genes for an individual patient will dictate the probability of particular phenotypes. Guidance [&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-573","page","type-page","status-publish","has-post-thumbnail","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.3 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Proximal 18q- 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\/proximal-18q-treatment-and-surveillance\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Proximal 18q- 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\u00a0 Proximal 18q deletions even though each person has a unique deletion. Therefore each person\u2019s deletion could have different genes that are hemizygous. The specific hemizygous genes for an individual patient will dictate the probability of particular phenotypes. 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