{"id":86047,"date":"2024-11-14T13:54:52","date_gmt":"2024-11-14T04:54:52","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/3q26_microduplication_syndrome\/"},"modified":"2025-10-10T18:12:24","modified_gmt":"2025-10-10T09:12:24","slug":"3q26_microduplication_syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/3q26_microduplication_syndrome\/?lang=en","title":{"rendered":"About 3q26 Microduplication 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\/3q26_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\/3q26_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\/3q26_microduplication_syndrome\/?lang=en\/#3_%E6%B2%BB%E7%99%82\" >3. \u6cbb\u7642<\/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\/3q26_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\/3q26_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>3q26 microduplication syndrome is a genetic disorder caused by a duplication of more than the usual number of genes in the 26 region of the long arm of chromosome 3. The duplication usually manifests as a de novo mutation, but in some cases may be inherited from a parent. The duplicated genes affect normal development and function of the nervous system, resulting in a variety of symptoms. The severity and type of symptoms vary from person to person, depending on the extent of the duplication and the genetic influence.<\/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<p>Symptoms of 3q26 microduplication syndrome vary from patient to patient, but common features include:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Developmental delay and intellectual disability:<\/strong><br>Delays in speech, motor and cognitive development may be present, and may be accompanied by mild to moderate intellectual disability. Delays in language development may be particularly noticeable.<\/li>\n\n\n\n<li><strong>Behavioral and psychological problems:<\/strong><br>Behaviors associated with Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>) may be observed, as well as impulsivity, anxiety, and moodiness.<\/li>\n\n\n\n<li><strong>Physical characteristics<\/strong><br>Some patients may have facial and skeletal abnormalities, such as a low nasal bridge, a broad forehead, or distinctive eye shape, and may have abnormalities of the hands and feet.<\/li>\n\n\n\n<li><strong>Growth abnormalities<\/strong><br>Growth failure may be reported in some patients, and height and weight development may be delayed.<\/li>\n\n\n\n<li><strong>Internal Organ Abnormalities<\/strong><br>Cardiac, renal, and digestive system abnormalities may be seen and may require special medical management.<\/li>\n\n\n\n<li><strong>Epileptic seizures<\/strong><br>Epileptic seizures may occur and require proper management and treatment.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E6%B2%BB%E7%99%82\"><\/span>3. \u6cbb\u7642<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>There is no cure for 3q26 microduplication syndrome, but support and management can be individualized depending on the patient&#8217;s symptoms. Approaches include:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Developmental and Therapeutic<\/strong><br>Care: Children will receive help to improve their language and motor skills through speech, physical and occupational therapy. An individualized treatment plan is important.<\/li>\n\n\n\n<li><strong>Behavioral therapy and psychological support<\/strong><br>Behavioral problems can be treated with behavioral therapy and counseling, and support for improving social skills is provided. Support at home and at school is important.<\/li>\n\n\n\n<li><strong>Management of internal organs and specialized medical care<\/strong><br>. Cardiac and renal disorders are treated by specialists and undergo ongoing follow-up. Surgical treatment may be performed if necessary.<\/li>\n\n\n\n<li><strong>Managing epilepsyIf<\/strong><br>you have seizures, you may be treated with anti-epileptic drugs.<\/li>\n\n\n\n<li><strong>Physical therapy<\/strong><br>Physical therapy is performed to improve muscle tone and motor function, thereby improving basic physical functions.<\/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>The prognosis for 3q26 microduplication syndrome depends on the severity of symptoms and whether or not appropriate support is provided. <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> intervention can help compensate for developmental delays and improve social and motor skills. However, many children continue to have intellectual disabilities and behavioral problems, so long-term support is necessary. Creating an individual care plan and working with experts to provide appropriate support can improve the prognosis.<\/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>Raising a child with 3q26 microduplication syndrome can be a medical, financial, and emotional burden for families.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Burden of medical management<\/strong><br>If you have internal organ complications or need to manage epilepsy, you will need to visit the hospital regularly and the medical costs will increase.<\/li>\n\n\n\n<li><strong>The burden of developmental support:<\/strong><br>In order to receive medical treatment and special support, parents need to be centrally involved and support at home is required. Cooperation with educational institutions is important.<\/li>\n\n\n\n<li><strong>Financial burden:<\/strong><br>Medical expenses, childcare expenses, and expenses associated with using special support services can place a financial burden on families. It is recommended that you make use of public assistance.<\/li>\n\n\n\n<li><strong>Emotional strain<\/strong><br>Worries about a child&#8217;s development or health, and the stresses of everyday caregiving can affect parents and families. Support groups and professional support may be helpful.<\/li>\n\n\n\n<li><strong>The need for social support<\/strong><br>It is important to work with local support groups and welfare services to help children develop better while reducing the burden on the entire family.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"1. Causes of the dis&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/3q26_microduplication_syndrome\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":87483,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-86047","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\/86047","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=86047"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/86047\/revisions"}],"predecessor-version":[{"id":117945,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/86047\/revisions\/117945"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/87483"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=86047"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=86047"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=86047"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}