{"id":85744,"date":"2024-11-14T14:08:59","date_gmt":"2024-11-14T05:08:59","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/5p13_duplication_syndrome\/"},"modified":"2025-08-22T09:16:18","modified_gmt":"2025-08-22T00:16:18","slug":"5p13_duplication_syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/5p13_duplication_syndrome\/?lang=en","title":{"rendered":"5p13 Duplication Syndrome"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><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\/5p13_duplication_syndrome\/?lang=en\/#Summary_of_the_Article\" >Summary of the Article<\/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\/5p13_duplication_syndrome\/?lang=en\/#1_Cause\" >1. Cause<\/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\/5p13_duplication_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-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5p13_duplication_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-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5p13_duplication_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-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5p13_duplication_syndrome\/?lang=en\/#5_Burden_on_Parents\" >5. Burden on Parents<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"Summary_of_the_Article\"><\/span>Summary of the Article<span class=\"ez-toc-section-end\"><\/span><\/h2><p>5p13 duplication syndrome is a genetic disorder caused by a duplication in the 13th region of the short arm of chromosome 5. The main symptoms include developmental delay, mild to moderate intellectual disability, and behavioral issues associated with autism spectrum disorder and attention deficit hyperactivity disorder (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>). Some patients may also exhibit physical characteristics. While there is no fundamental cure, individualized support such as speech therapy, physical therapy, and behavioral therapy is crucial. Receiving appropriate support early on can improve the quality of life. However, families often face economic and emotional burdens, so it is recommended to utilize local welfare services and specialized support systems.<\/p><\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_Cause\"><\/span>1. <strong>Cause<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>5p13 duplication syndrome is a genetic disorder caused by duplication of the short arm region 13 of chromosome 5. This duplication affects development and the nervous system.<\/p>\n\n\n\n    <a href=\"\/nipt\/17p13-3-duplication\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">17p13.3 \u30c6\u30ed\u30e1\u30ea\u30c3\u30af\u91cd\u8907\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">17p13.3\u30c6\u30ed\u30e1\u30ea\u30c3\u30af\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u767a\u9054\u9045\u5ef6\u3084\u77e5\u7684\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u75be\u60a3\u3067\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u652f\u63f4\u306b\u3088\u308a\u751f\u6d3b\u306e\u8cea\u306e\u5411\u4e0a\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002\u9577\u671f...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_Symptoms\"><\/span>2. <strong>Symptoms<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Developmental delay<\/strong>: Delays may occur in language, motor, and social skills.<br><\/li>\n\n\n\n<li><strong>Intellectual disability<\/strong>: Mild to moderate intellectual disability may be present.<br><\/li>\n\n\n\n<li><strong>Behavioral problems<\/strong>: Behaviors associated with autism spectrum disorder or attention-deficit\/hyperactivity disorder (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>) may be observed.<br><\/li>\n\n\n\n<li><strong>Physical features<\/strong>: Some patients may have facial or body abnormalities.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_Treatment\"><\/span>3. <strong>Treatment<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>There is no fundamental cure. Supportive and individualized interventions are essential. Speech therapy and physical therapy are used to promote development, while behavioral therapy and psychological support are also important.\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_Prognosis\"><\/span>4. <strong>Prognosis<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>The outcome varies depending on the severity of symptoms and the type of support provided. <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> and appropriate interventions can improve quality of life.<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/23502599_s.jpg\" alt=\"\u53cb\u3055\u3048\u3044\u308c\u3070\" class=\"wp-image-87443\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_Burden_on_Parents\"><\/span>5. Burden on Parents<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>The financial burden of medical care and therapy, as well as the strain of frequent hospital visits, can be significant. Parents also face considerable emotional stress. It is important to receive appropriate support and make use of local welfare services.<\/p>\n\n\n\n    <a href=\"\/nipt\/xq27-3-q28-duplication-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">Xq27.3-q28 \u91cd\u8907\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">Xq27.3-q28\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001X\u67d3\u8272\u4f53\u306e\u907a\u4f1d\u7684\u91cd\u8907\u306b\u3088\u3063\u3066\u767a\u751f\u3057\u3001\u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\u3001\u591a\u52d5\u6027\u3001\u81ea\u9589\u75c7\u69d8\u884c\u52d5\u306a\u3069\u306e\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u65e9...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n","protected":false},"excerpt":{"rendered":"Summary of the Artic&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5p13_duplication_syndrome\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":87442,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-85744","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\/85744","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=85744"}],"version-history":[{"count":9,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85744\/revisions"}],"predecessor-version":[{"id":111530,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85744\/revisions\/111530"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/87442"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=85744"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=85744"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=85744"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}