{"id":84334,"date":"2024-11-15T15:53:23","date_gmt":"2024-11-15T06:53:23","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/16p11-2-p12-2-microduplication-syndrome\/"},"modified":"2025-10-10T17:33:56","modified_gmt":"2025-10-10T08:33:56","slug":"16p11-2-p12-2-microduplication-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/16p11-2-p12-2-microduplication-syndrome\/?lang=en","title":{"rendered":"16p12.2 Deletion (Proximal) 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\/16p11-2-p12-2-microduplication-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\/16p11-2-p12-2-microduplication-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\/16p11-2-p12-2-microduplication-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\/16p11-2-p12-2-microduplication-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\/16p11-2-p12-2-microduplication-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>16p12.2 deletion (proximal) syndrome is a genetic disorder caused by the deletion of part of the short arm (p12.2) of chromosome 16. This deletion impairs the function of genes involved in neurodevelopment and physical growth, causing a variety of symptoms. In many cases, the condition is caused by a new mutation.<\/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;: Developmental delays in language and motor skills are observed.<\/li>\n\n\n\n<li><strong>Intellectual disability<\/strong>&nbsp;: Mild to moderate intellectual disability has been reported.<\/li>\n\n\n\n<li><strong>Behavioral problems<\/strong>&nbsp;: Autism-related behaviors, hyperactivity, and attention deficits may be present.<\/li>\n\n\n\n<li><strong>Abnormalities in internal organs<\/strong>&nbsp;: Abnormalities in the internal organs, such as the heart and kidneys, may be present.<\/li>\n\n\n\n<li><strong>Physical Characteristics<\/strong>&nbsp;: People may have distinctive facial features, 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;: Developmental support is provided using speech therapy, occupational therapy, physical therapy, etc.<\/li>\n\n\n\n<li><strong>Behavioral Therapy<\/strong>&nbsp;: Psychological and behavioral therapy is offered for behavioral issues.<\/li>\n\n\n\n<li><strong>Management of internal organs<\/strong>&nbsp;: If necessary, specialized treatment will be provided for any abnormalities in the internal organs.<\/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 the right medical care and support, development and quality of life can be improved, but prognosis varies depending on the individual&#8217;s condition.<\/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>The need for long-term medical and behavioral support can place a heavy financial and emotional burden on patients, so it is important to work with local support 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\/16p11-2-p12-2-microduplication-syndrome\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":84746,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-84334","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\/84334","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=84334"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/84334\/revisions"}],"predecessor-version":[{"id":117877,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/84334\/revisions\/117877"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/84746"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=84334"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=84334"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=84334"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}