{"id":84284,"date":"2024-11-15T15:54:47","date_gmt":"2024-11-15T06:54:47","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/16p13-11-deletion-syndrome\/"},"modified":"2025-08-12T12:30:08","modified_gmt":"2025-08-12T03:30:08","slug":"16p13-11-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/16p13-11-deletion-syndrome\/?lang=en","title":{"rendered":"16p13.11 Deletion Syndrome"},"content":{"rendered":"\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/16p13-11-deletion-syndrome\/?lang=en\/#1_Causes_of_the_disease\" >1. Causes of the disease<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/16p13-11-deletion-syndrome\/?lang=en\/#2_Symptoms\" >2. Symptoms<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/16p13-11-deletion-syndrome\/?lang=en\/#3_Treatment\" >3. Treatment<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/16p13-11-deletion-syndrome\/?lang=en\/#4_Prognosis\" >4. Prognosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/16p13-11-deletion-syndrome\/?lang=en\/#5_The_burden_on_parents\" >5. The burden on parents<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_Causes_of_the_disease\"><\/span>1. Causes of the disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>16p13.11 deletion syndrome is a rare genetic disorder caused by the deletion of part of the short arm of chromosome 16 (the p13.11 region). This genetic change can result in the deletion of multiple genes that affect neurodevelopment, behavior, and physical characteristics, resulting in a wide range of symptoms. It often occurs as a de novo mutation, but can also run in families.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_Symptoms\"><\/span>2. Symptoms<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Developmental delays<\/strong>&nbsp;: Delays in language and motor skills are common.<\/li>\n\n\n\n<li><strong>Intellectual disability<\/strong>&nbsp;: There may be mild to moderate intellectual disability.<\/li>\n\n\n\n<li><strong>Behavioral problems<\/strong>&nbsp;: Behavioral problems such as autism spectrum disorder and attention deficit hyperactivity disorder (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>) may be present.<\/li>\n\n\n\n<li><strong>Epilepsy<\/strong>&nbsp;: Epileptic seizures have been reported in some patients.<\/li>\n\n\n\n<li><strong>Physical characteristics<\/strong>&nbsp;: Certain facial features and body abnormalities may be present, but there is considerable individual variation.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_Treatment\"><\/span>3. Treatment<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Developmental Support<\/strong>&nbsp;: Physiotherapy, speech therapy, and occupational therapy are used to support development.<\/li>\n\n\n\n<li><strong>Behavioral therapy<\/strong>&nbsp;: Psychological and behavioral therapy for behavioral problems may be used.<\/li>\n\n\n\n<li><strong>Epilepsy Management<\/strong>&nbsp;: For epileptic seizures, appropriate anti-epileptic drugs may be prescribed.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_Prognosis\"><\/span>4. Prognosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>With appropriate medical support and therapy, symptoms can be expected to improve and quality of life can be enhanced, but prognosis varies depending on the severity of symptoms and complications of each individual patient.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_The_burden_on_parents\"><\/span>5. The burden on parents<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Since long-term treatment and medical management will be required, this can be a financial and psychological burden. It is important to work with local support services and medical institutions to receive appropriate support.<\/p>\n","protected":false},"excerpt":{"rendered":"1. Causes of the dis&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/16p13-11-deletion-syndrome\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":82841,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-84284","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/84284","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/101"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=84284"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/84284\/revisions"}],"predecessor-version":[{"id":109930,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/84284\/revisions\/109930"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/82841"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=84284"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=84284"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=84284"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}