{"id":111418,"date":"2024-11-14T13:17:55","date_gmt":"2024-11-14T04:17:55","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p32_p31_deletion_syndrome\/"},"modified":"2025-08-21T17:26:26","modified_gmt":"2025-08-21T08:26:26","slug":"1p32_p31_deletion_syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p32_p31_deletion_syndrome\/?lang=en","title":{"rendered":"About 1p32-p31 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\/1p32_p31_deletion_syndrome\/?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\/1p32_p31_deletion_syndrome\/?lang=en\/#1_Causes\" >1. Causes<\/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\/1p32_p31_deletion_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\/1p32_p31_deletion_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\/1p32_p31_deletion_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\/1p32_p31_deletion_syndrome\/?lang=en\/#5_Family_Burden_and_Support\" >5. Family Burden and Support<\/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>1p32-p31 deletion syndrome is a genetic disorder caused by a deletion on part of chromosome 1. Common symptoms include intellectual disability, developmental delays, physical abnormalities, epilepsy, and behavioral issues. Treatment focuses on developmental and behavioral support, seizure management, and care for physical complications. Although the condition can place medical, financial, and emotional burdens on families, utilizing regional welfare and public assistance can ease these challenges and help support the child\u2019s growth. Appropriate support and community cooperation are key to improving the quality of life for both the child and the family.<\/p><\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_Causes\"><\/span>1. <strong>Causes<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>This syndrome results from a genetic deletion in the 1p32 to 1p31 region on the short arm of chromosome 1. Most cases are due to de novo mutations (not inherited), but familial inheritance is possible. The specific genes affected vary by individual, leading to different symptoms.<\/p>\n\n\n\n    <a href=\"\/nipt\/17p13-1deletionsyndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">17p13.1\u6b20\u5931\u75c7\u5019\u7fa4\uff0817p13.1 deletion syndrome\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">17p13.1\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u6027\u75be\u60a3\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3002\u30b7\u30ca\u30d7\u30bd\u30d1\u30c1\u30fc\u3001\u5148\u5929\u6027\u7b4b\u7121\u529b\u75c7\u5019\u7fa4\u3001\u30c6\u30ed\u30e1\u30a2\u751f\u7269\u5b66\u7684\u75be\u60a3\u306a\u3069\u3092\u53d6\u308a\u4e0a\u3052\u3001\u4e3b\u8981\u306a\u907a\u4f1d\u5b50\u3084...<\/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>Intellectual Disability and Developmental Delays<\/strong>: Language and motor development are often delayed, ranging from mild to severe disability.<br><\/li>\n\n\n\n<li><strong>Physical Features<\/strong>: Some may show distinctive facial features such as unusual ear shape or wide-set eyes.<br><\/li>\n\n\n\n<li><strong>Behavioral and Psychological Issues<\/strong>: Hyperactivity, anxiety, impulsivity, and behaviors resembling <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a> or ASD may occur.<br><\/li>\n\n\n\n<li><strong>Congenital Physical Abnormalities<\/strong>: Some may have heart, urogenital, or skeletal malformations.<br><\/li>\n<\/ul>\n\n\n\n<p><strong>Epilepsy<\/strong>: Seizures may occur and require medical management.<\/p>\n\n\n\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<ul class=\"wp-block-list\">\n<li><strong>Developmental Support and <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> Intervention<\/strong>: Includes speech, physical, and occupational therapies to build social and cognitive skills.<br><\/li>\n\n\n\n<li><strong>Behavioral Therapy and Psychological Support<\/strong>: Addresses behavior issues through therapy, with cooperation from family and schools.<br><\/li>\n\n\n\n<li><strong>Epilepsy Management<\/strong>: Antiepileptic medications may be needed to control seizures.<br><\/li>\n<\/ul>\n\n\n\n<p><strong>Managing Physical Complications<\/strong>: Heart or other organ issues require specialized medical care and possibly surgery.<\/p>\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>Prognosis depends on symptom severity and management. With proper support, many can achieve improved quality of life and, in some cases, live with social 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\/5141217_s1.jpg\" alt=\"\u6170\u3081\u308b\" class=\"wp-image-87746\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_Family_Burden_and_Support\"><\/span>5. <strong>Family Burden and Support<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>Medical Management<\/strong>: Regular appointments and specialized care can be time-consuming and costly.<br><\/p>\n\n\n\n<p><strong>Educational and Developmental Support<\/strong>: Requires personalized programs and active family involvement.<br><\/p>\n\n\n\n<p><strong>Financial Strain<\/strong>: High treatment and care costs; public aid is crucial.<br><\/p>\n\n\n\n<p><strong>Emotional Burden<\/strong>: Anxiety about the future and daily stress may be mitigated by counseling and support groups.<br><\/p>\n\n\n\n<p><strong>Community Engagement<\/strong>: Utilizing social and welfare services helps reduce family stress and supports the child&#8217;s development.<\/p>\n\n\n\n    <a href=\"\/nipt\/9q33-3q34-11-microdeletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u65e9\u671f\u4e73\u5150\u3066\u3093\u304b\u3093\u6027\u8133\u75c74\u578b (EIEE4; Early Infantile Epileptic Encephalopathy 4) <\/div>\n          <div class=\"blog-card-excerpt\">STXBP1\u8133\u75c7\uff08\u3066\u3093\u304b\u3093\u3092\u4f34\u3046\uff09\u306f\u3001\u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\u3001\u7672\u7647\u3001\u904b\u52d5\u969c\u5bb3\u306a\u3069\u3001\u591a\u5c90\u306b\u308f\u305f\u308b\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u8a3a\u65ad\u3001\u6cbb\u7642\u6cd5\u3001\u907a\u4f1d\u7684\u80cc\u666f\u306b\u95a2...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n","protected":false},"excerpt":{"rendered":"Article Summary1p32-&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p32_p31_deletion_syndrome\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":87741,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-111418","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\/111418","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=111418"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111418\/revisions"}],"predecessor-version":[{"id":111434,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111418\/revisions\/111434"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/87741"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=111418"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=111418"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=111418"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}