{"id":557,"date":"2024-01-09T15:17:23","date_gmt":"2024-01-09T21:17:23","guid":{"rendered":"https:\/\/wp.uthscsa.edu\/chromosome-18\/?page_id=557"},"modified":"2024-01-25T09:46:22","modified_gmt":"2024-01-25T15:46:22","slug":"deletion-clinical-dosage-map-legend","status":"publish","type":"page","link":"https:\/\/wp.uthscsa.edu\/chromosome-18\/deletion-clinical-dosage-map-legend\/","title":{"rendered":"Deletion Clinical Dosage Map Legend"},"content":{"rendered":"<div class=\"wpb-content-wrapper\"><p>[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_column_text]Hemizygosity (deletion) Clinical Dosage Map explanation.<\/p>\n<p>This map presents the current state of the science for all possible phenotypes or characteristics that could potentially be associated with a single copy deletion of a portion of chromosome 18. Some of the features are associated with a specific gene and others with a specific region that includes several genes for those cases in which the specific causative gene is not yet known.<\/p>\n<p>There are two important points to remember:<\/p>\n<ul>\n<li>The vast majority of the listed features have an extremely low probability of occurring in someone with a deletion of the identified section of the chromosome.<\/li>\n<li>Genomic data interpretation is in its infancy. These data summarize the current state of the science and are continuously revised and updated as new information is learned. There is much yet to learn.<\/li>\n<\/ul>\n<p>Each feature is classified by its possible risk of causing that condition and each level of risk has a color code for easier identification. The classifications are color coded on the map as follows:<\/p>\n<ul>\n<li><strong>Low penetrance.\u00a0<\/strong>These conditions occur as a result of hemizygosity but only in fewer than 50% of people with a deletion of this gene or region. This determination is based primarily on our own previously reported genotype-phenotype correlation data. <em>(genes indicated in orange)<\/em><\/li>\n<li><strong>Causal.<\/strong> These genes or regions are associated with an abnormal condition in at least 50% of the people with hemizygosity (a deletion) of this gene or region. <em>(genes indicated in pink)<\/em><\/li>\n<\/ul>\n<p>[\/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 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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 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 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Society<\/a><\/li>\n<\/ul><\/nav>[\/vc_column][\/vc_row]<\/p>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_column_text]Hemizygosity (deletion) Clinical Dosage Map explanation. This map presents the current state of the science for all possible phenotypes or characteristics that could potentially be associated with a single copy deletion of a portion of chromosome 18. Some of the features are associated with a specific gene and others with a specific region that [&hellip;]<\/p>\n","protected":false},"author":326,"featured_media":398,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"categories":[],"class_list":["post-557","page","type-page","status-publish","has-post-thumbnail","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Deletion Clinical Dosage Map Legend - 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\/deletion-clinical-dosage-map-legend\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Deletion Clinical Dosage Map Legend - Chromosome 18\" \/>\n<meta property=\"og:description\" content=\"[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_column_text]Hemizygosity (deletion) Clinical Dosage Map explanation. This map presents the current state of the science for all possible phenotypes or characteristics that could potentially be associated with a single copy deletion of a portion of chromosome 18. 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