{"id":111840,"date":"2025-02-22T08:38:23","date_gmt":"2025-02-21T23:38:23","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-14-ring-syndrome\/"},"modified":"2025-08-22T14:11:37","modified_gmt":"2025-08-22T05:11:37","slug":"chromosome-14-ring-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-14-ring-syndrome\/?lang=en","title":{"rendered":"Ring Chromosome 14 Syndrome"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\">\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\/chromosome-14-ring-syndrome\/?lang=en\/#Summary_of_This_Article\" >Summary of This 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\/chromosome-14-ring-syndrome\/?lang=en\/#What_is_Ring_Chromosome_14\" >What is Ring Chromosome 14?<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-14-ring-syndrome\/?lang=en\/#Cause\" >Cause<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-14-ring-syndrome\/?lang=en\/#Symptoms\" >Symptoms<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-14-ring-syndrome\/?lang=en\/#Prenatal_Risk_Management\" >Prenatal Risk Management<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-14-ring-syndrome\/?lang=en\/#Diagnosis\" >Diagnosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-14-ring-syndrome\/?lang=en\/#Treatment\" >Treatment<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-14-ring-syndrome\/?lang=en\/#Prognosis\" >Prognosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-14-ring-syndrome\/?lang=en\/#Information_Sources\" >Information Sources<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-14-ring-syndrome\/?lang=en\/#Notes\" >Notes<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"Summary_of_This_Article\"><\/span>Summary of This Article<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Ring Chromosome 14 Syndrome is a rare genetic disorder in which chromosome 14 forms a ring structure. The main symptoms include developmental delay, intellectual disability, epilepsy, and distinctive facial features. Diagnosis is made through chromosomal testing. Treatment mainly focuses on symptomatic therapy, and prognosis varies among individuals. This condition cannot be detected by <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> and requires a G-banding test.\n<\/p><\/div>\n\n\n\n\n\n\n<p>Ring Chromosome 14 Syndrome is an extremely rare genetic disorder caused by a structural abnormality of chromosome 14.<br><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"What_is_Ring_Chromosome_14\"><\/span><strong>What is Ring Chromosome 14?<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Normally, chromosomes have a linear structure. In this syndrome, both ends of chromosome 14 are deleted, and the remaining ends join together to form a ring structure \u2014 the hallmark of this condition.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Cause\"><\/span><strong>Cause<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Ring Chromosome 14 Syndrome is caused by a spontaneous chromosomal abnormality involving the breakage and rejoining of chromosome 14. In most cases, it is not inherited from a parent.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Symptoms\"><\/span><strong>Symptoms<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Key symptoms include:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Developmental delay<\/strong>: Delayed motor and intellectual development.<br><\/li>\n\n\n\n<li><strong>Intellectual disability<\/strong>: Ranges from mild to severe.<br><\/li>\n\n\n\n<li><strong>Epilepsy<\/strong>: Often presents with intractable seizures.<br><\/li>\n\n\n\n<li><strong>Distinct facial features<\/strong>: May be noticeable in affected individuals.<br><\/li>\n\n\n\n<li><strong>Other symptoms<\/strong>: Short stature, microcephaly, heart or kidney abnormalities, and autism spectrum disorder (ASD) may also occur.<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Prenatal_Risk_Management\"><\/span><strong>Prenatal Risk Management<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>For peace of mind during pregnancy, consider <strong>non-invasive prenatal testing (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>)<\/strong>.<br><strong>Book your appointment today<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Diagnosis\"><\/span><strong>Diagnosis<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>The condition is diagnosed through chromosomal testing.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Treatment\"><\/span><strong>Treatment<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>There is currently no cure for Ring Chromosome 14 Syndrome. Treatment is symptomatic and supportive:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Epilepsy<\/strong>: Managed with anti-epileptic drugs.<br><\/li>\n\n\n\n<li><strong>Developmental delay<\/strong>: Requires rehabilitation and early intervention.<br><\/li>\n\n\n\n<li><strong>Other symptoms<\/strong>: Treated by appropriate specialists.<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Prognosis\"><\/span><strong>Prognosis<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Prognosis varies widely between individuals, depending on the severity of intellectual disability and presence of complications.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Information_Sources\"><\/span><strong>Information Sources<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>More detailed information can be found at:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Rare &amp; Intractable Disease Center (Japan):<a href=\"https:\/\/www.nanbyou.or.jp\/\"> https:\/\/www.nanbyou.or.jp\/<br><\/a><\/li>\n\n\n\n<li>Orphanet (Rare Disease Information):<a href=\"https:\/\/www.orpha.net\/\"> https:\/\/www.orpha.net\/<br><\/a><\/li>\n<\/ul>\n\n\n\n<p>These sites also provide resources for patient and family support groups.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Notes\"><\/span><strong>Notes<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>This syndrome is extremely rare and information is limited. <strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> cannot detect this condition<\/strong>, as it results from a structural rather than quantitative chromosomal change. A G-banding karyotype test \u2014 an older cytogenetic method \u2014 is usually required for detection.<\/p>\n","protected":false},"excerpt":{"rendered":"Summary of This Arti&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-14-ring-syndrome\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":59,"featured_media":90956,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-111840","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\/111840","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\/59"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=111840"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111840\/revisions"}],"predecessor-version":[{"id":111850,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111840\/revisions\/111850"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/90956"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=111840"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=111840"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=111840"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}