{"id":84347,"date":"2024-11-15T15:51:55","date_gmt":"2024-11-15T06:51:55","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q14-microdeletion-syndrome\/"},"modified":"2025-08-12T12:24:28","modified_gmt":"2025-08-12T03:24:28","slug":"15q14-microdeletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q14-microdeletion-syndrome\/?lang=en","title":{"rendered":"15q14 Microdeletion 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\/15q14-microdeletion-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\/15q14-microdeletion-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\/15q14-microdeletion-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\/15q14-microdeletion-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\/15q14-microdeletion-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>15q14 microdeletion syndrome is a rare genetic disorder caused by the deletion of part of the long arm of chromosome 15 (q14 region). This deletion affects several important genes related to neurodevelopment and physical growth, which can result in a variety of symptoms. Most cases arise as de novo mutations, but some cases can be inherited genetically.<\/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 the development of language and motor skills are common.<\/li>\n\n\n\n<li><strong>Intellectual disability<\/strong>&nbsp;: Mild to moderate intellectual disability is often present.<\/li>\n\n\n\n<li><strong>Behavioral problems<\/strong>&nbsp;: Behavioral problems such as hyperactivity 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>Facial features<\/strong>&nbsp;: Some patients may have distinctive facial features (such as a broad forehead, low nasal bridge, and wide eyes).<\/li>\n\n\n\n<li><strong>Abnormalities in internal organs<\/strong>&nbsp;: In some cases, abnormalities in internal organs such as the heart and kidneys may be present.<\/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 and Therapy<\/strong>&nbsp;: Supporting patients&#8217; development through physical, speech and occupational therapy.<\/li>\n\n\n\n<li><strong>Behavioral Therapy<\/strong>&nbsp;: Psychotherapy and counseling may be used to treat behavioral problems.<\/li>\n\n\n\n<li><strong>Visceral Management<\/strong>&nbsp;: Specialized treatment for visceral abnormalities is provided, if required.<\/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 support and medical management, it is expected that the quality of life will improve, but the prognosis will vary depending on the severity of the symptoms and whether or not there are any complications. <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> therapeutic support is important.<\/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 medical care and therapy are often required, which can be both financially and mentally burdensome, it is important to establish a support system in cooperation with local support services and medical institutions.<\/p>\n","protected":false},"excerpt":{"rendered":"1. Causes of the dis&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q14-microdeletion-syndrome\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":84658,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-84347","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\/84347","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=84347"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/84347\/revisions"}],"predecessor-version":[{"id":109920,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/84347\/revisions\/109920"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/84658"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=84347"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=84347"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=84347"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}