{"id":111771,"date":"2024-11-14T13:21:12","date_gmt":"2024-11-14T04:21:12","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q43_q44\/"},"modified":"2025-08-22T13:19:21","modified_gmt":"2025-08-22T04:19:21","slug":"1q43_q44","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q43_q44\/?lang=en","title":{"rendered":"About 1q43-q44 Deletion 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\/1q43_q44\/?lang=en\/#Article_Summary\" >Article Summary<\/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\/1q43_q44\/?lang=en\/#1_Cause_of_the_Disorder\" >1. Cause of the Disorder<\/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\/1q43_q44\/?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\/1q43_q44\/?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\/1q43_q44\/?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\/1q43_q44\/?lang=en\/#5_Parental_Burden\" >5. Parental Burden<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"Article_Summary\"><\/span>Article Summary<span class=\"ez-toc-section-end\"><\/span><\/h2><p>1q43-q44 deletion syndrome is a genetic disorder caused by the deletion of a segment on chromosome 1. Key symptoms include intellectual disability, developmental delay, epilepsy, brain structural abnormalities, distinctive facial features, physical anomalies, and behavioral issues. Treatment primarily involves developmental support, epilepsy management, behavioral therapy, and addressing physical complications. <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> intervention is critical to improving quality of life. Although families may face medical, financial, and emotional challenges, utilizing local support and welfare services can help ease the burden and support the child\u2019s development.<\/p><\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_Cause_of_the_Disorder\"><\/span>1. Cause of the Disorder<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>1q43-q44 Deletion Syndrome is a genetic disorder caused by the partial deletion of the long arm of chromosome 1 (specifically in the q43-q44 region). This deletion usually arises as a new mutation and is rarely inherited. The symptoms and complications vary depending on the size and location of the deletion. The region contains multiple genes, and their loss can result in neurological and physical developmental abnormalities.<\/p>\n\n\n\n    <a href=\"\/nipt\/xp21-2-microduplication-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">Xp21.2 \u91cd\u8907\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">\u672c\u8a18\u4e8b\u3067\u306f\u3001IL1RAPL1\u907a\u4f1d\u5b50\u306b\u3088\u308bX\u9023\u9396\u6027\u77e5\u7684\u969c\u5bb321\u3084NR0B1\u907a\u4f1d\u5b50\u95a2\u9023\u5148\u5929\u6027\u526f\u814e\u4f4e\u5f62\u6210\u75c7\u3001\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30ce\u30d1\u30b7\u30fc\u306a\u3069\u3001\u7a00\u5c11\u75be\u60a3\u3068\u305d...<\/div>\n      <\/div>\n    <\/a>\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>Although symptoms vary between individuals, common features include:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Intellectual disability and developmental delay<\/strong>: Ranging from mild to severe, with delays in speech and motor development.<br><\/li>\n\n\n\n<li><strong>Epilepsy<\/strong>: Seizures are common, and their frequency and severity vary. Antiepileptic drugs may be necessary for management.<br><\/li>\n\n\n\n<li><strong>Brain abnormalities<\/strong>: Structural brain anomalies such as cranial malformations or agenesis of the corpus callosum have been reported, potentially affecting neurodevelopment.<br><\/li>\n\n\n\n<li><strong>Distinct facial features<\/strong>: Includes microcephaly, broad forehead, wide-set eyes, and atypical shapes of the nose or ears.<br><\/li>\n\n\n\n<li><strong>Physical anomalies<\/strong>: May involve limb deformities, skeletal abnormalities, and urogenital malformations.<br><\/li>\n<\/ul>\n\n\n\n<p><strong>Behavioral issues<\/strong>: Symptoms resembling autism spectrum disorder (ASD), attention-deficit\/hyperactivity disorder (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>), anxiety, and impulsivity may occur.<\/p>\n\n\n\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<p>There is no specific cure for 1q43-q44 Deletion Syndrome, but treatments and support are tailored to individual symptoms:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Developmental and therapeutic support<\/strong>: Speech therapy, physical therapy, and occupational therapy help improve life skills.<br><\/li>\n\n\n\n<li><strong>Seizure management<\/strong>: Antiepileptic medications are used to control seizures, improving quality of life.<br><\/li>\n\n\n\n<li><strong>Behavioral and psychological support<\/strong>: Behavioral therapy and counseling are effective for managing emotional and behavioral problems. Coordination with family and educators is crucial.<br><\/li>\n<\/ul>\n\n\n\n<p><strong>Management of physical complications<\/strong>: Cardiac, skeletal, or urogenital issues should be handled by appropriate specialists.<\/p>\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>Prognosis varies with the extent of the deletion and the severity of symptoms. With proper medical and developmental support, many individuals can achieve improved quality of life. Long-term care is often required, particularly for intellectual disabilities and seizure control. <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> intervention may improve social skills and independence.<\/p>\n\n\n\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\/24474970_s.jpg\" alt=\"\u5b89\u5b9a\u306a\u6301\u3061\u65b9\" class=\"wp-image-87719\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_Parental_Burden\"><\/span>5. Parental Burden<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Caring for a child with 1q43-q44 Deletion Syndrome can present several challenges:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Medical management burden<\/strong>: Ongoing care is needed for seizures and other complications, with regular specialist consultations.<br><\/li>\n\n\n\n<li><strong>Developmental and educational support<\/strong>: Special needs require dedicated support both at home and in school, involving active parental involvement.<br><\/li>\n\n\n\n<li><strong>Financial strain<\/strong>: Medical and therapeutic costs may place pressure on family finances. Public assistance programs should be utilized.<br><\/li>\n\n\n\n<li><strong>Emotional stress<\/strong>: Anxiety over the child\u2019s health and future, along with daily caregiving, can be stressful. Support groups and counseling may help.<br><\/li>\n\n\n\n<li><strong>Community support<\/strong>: Collaboration with local welfare services and support organizations is vital to reduce the burden on the entire family.<\/li>\n<\/ul>\n\n\n\n    <a href=\"\/nipt\/xp11-3-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">Xp11.3 \u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">Xp11.3 \u6b20\u5931\u75c7\u5019\u7fa4\u306b\u95a2\u3059\u308b\u5305\u62ec\u7684\u306a\u60c5\u5831\u3092\u63d0\u4f9b\u3002\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u5909\u7570\u3084\u75be\u60a3\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u30a2\u30d7\u30ed\u30fc\u30c1\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n","protected":false},"excerpt":{"rendered":"Article Summary1q43-&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q43_q44\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":87516,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-111771","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\/111771","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=111771"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111771\/revisions"}],"predecessor-version":[{"id":111777,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111771\/revisions\/111777"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/87516"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=111771"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=111771"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=111771"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}