{"id":83601,"date":"2024-11-15T15:57:49","date_gmt":"2024-11-15T06:57:49","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83601"},"modified":"2025-08-25T09:44:43","modified_gmt":"2025-08-25T00:44:43","slug":"17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/","title":{"rendered":"17p12 \u6b20\u5931\u75c7\u5019\u7fa4 (\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c51A\u578b)"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\">\n<h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2>\n<p>17p12\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff0817p12\uff09\u9818\u57df\u306e\u907a\u4f1d\u5b50\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u3001\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c51A\u578b\uff08CMT1A\uff09\u3092\u767a\u75c7\u3055\u305b\u307e\u3059\u3002\u4e3b\u306a\u75c7\u72b6\u306b\u306f\u3001\u7b4b\u529b\u4f4e\u4e0b\u3001\u611f\u899a\u7570\u5e38\u3001\u8db3\u306e\u5909\u5f62\u3001\u904b\u52d5\u56f0\u96e3\u304c\u3042\u308a\u3001\u9032\u884c\u6027\u306e\u75be\u60a3\u3067\u3059\u3002\u7406\u5b66\u7642\u6cd5\u3084\u88c5\u5177\u3001\u5916\u79d1\u7684\u4ecb\u5165\u306a\u3069\u306e\u6cbb\u7642\u6cd5\u304c\u3042\u308a\u3001\u9069\u5207\u306a\u7ba1\u7406\u3068\u652f\u63f4\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u75c7\u72b6\u306e\u8efd\u6e1b\u304c\u53ef\u80fd\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u9577\u671f\u7684\u306a\u7642\u990a\u3084\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3001\u5bb6\u65cf\u306b\u306f\u5927\u304d\u306a\u8ca0\u62c5\u304c\u304b\u304b\u308a\u307e\u3059\u3002\n<\/p><\/div>\n\n\n\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\" 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ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/#%E6%B2%BB%E7%99%82\" >\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\/17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/#%E4%BA%88%E5%BE%8C\" >\u4e88\u5f8c<\/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\/17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/#%E4%B8%A1%E8%A6%AA%E3%81%AE%E8%B2%A0%E6%8B%85\" >\u4e21\u89aa\u306e\u8ca0\u62c5<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E6%B0%97%E3%81%AE%E5%8E%9F%E5%9B%A0\"><\/span>\u75c5\u6c17\u306e\u539f\u56e0<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>17p12\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff0817p12\uff09\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308b\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306f\u3001\u672b\u68a2\u795e\u7d4c\u306e\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c51A\u578b\uff08CMT1A\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u3067\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u795e\u7d4c\u4f1d\u5c0e\u901f\u5ea6\u304c\u4f4e\u4e0b\u3057\u3001\u7b4b\u529b\u3084\u611f\u899a\u306e\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/17p13-3-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">17p13.3 \u6b20\u5931\u75c7\u5019\u7fa4 (Miller-Dieker \u75c7\u5019\u7fa4) \/ Miller-Dieker \u6ed1\u8133\u75c7\u5019\u7fa4 (MDLS) <\/div>\n          <div class=\"blog-card-excerpt\">\u30df\u30e9\u30fc\u30fb\u30c7\u30a3\u30fc\u30ab\u30fc\u75c7\u5019\u7fa4\uff08MDS\uff09\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u6b20\u5931\u304c\u539f\u56e0\u3067\u767a\u75c7\u3059\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u75be\u60a3\u306e\u7279\u5fb4\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u7ba1\u7406\u30a2\u30d7\u30ed\u30fc\u30c1...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6\"><\/span>\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b4b\u529b\u4f4e\u4e0b<\/strong>: \u4e3b\u306b\u4e0b\u80a2\u306e\u7b4b\u529b\u304c\u4f4e\u4e0b\u3057\u3001\u6b69\u884c\u304c\u56f0\u96e3\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u611f\u899a\u7570\u5e38<\/strong>: \u624b\u8db3\u306b\u3057\u3073\u308c\u3084\u611f\u899a\u7570\u5e38\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8db3\u306e\u5909\u5f62<\/strong>: \u9ad8\u3044\u30a2\u30fc\u30c1\u3084\u30cf\u30f3\u30de\u30fc\u30c8\u30a5\u306a\u3069\u3001\u8db3\u306e\u5909\u5f62\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u56f0\u96e3<\/strong>: \u5fae\u7d30\u904b\u52d5\u3084\u624b\u306e\u52d5\u4f5c\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82\"><\/span>\u6cbb\u7642<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5<\/strong>: \u7b4b\u529b\u3092\u7dad\u6301\u3057\u3001\u904b\u52d5\u6a5f\u80fd\u3092\u30b5\u30dd\u30fc\u30c8\u3059\u308b\u305f\u3081\u306b\u7406\u5b66\u7642\u6cd5\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u88c5\u5177\u306e\u4f7f\u7528<\/strong>: \u6b69\u884c\u3092\u88dc\u52a9\u3059\u308b\u305f\u3081\u306b\u88c5\u5177\u3084\u652f\u5177\u304c\u4f7f\u7528\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5916\u79d1\u7684\u4ecb\u5165<\/strong>: \u5909\u5f62\u3057\u305f\u8db3\u3084\u624b\u3092\u6539\u5584\u3059\u308b\u305f\u3081\u306b\u624b\u8853\u304c\u884c\u308f\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\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\/30444643_s.jpg\" alt=\"\u5e7c\u7a1a\u5712\u3067\u904a\u3076\u5b50\u3069\u3082\" class=\"wp-image-87138\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%88%E5%BE%8C\"><\/span>\u4e88\u5f8c<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u9032\u884c\u6027\u306e\u75be\u60a3\u3067\u3059\u304c\u3001\u9069\u5207\u306a\u7ba1\u7406\u3068\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u75c7\u72b6\u3092\u8efd\u6e1b\u3057\u3001\u65e5\u5e38\u751f\u6d3b\u3092\u3088\u308a\u826f\u304f\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%A1%E8%A6%AA%E3%81%AE%E8%B2%A0%E6%8B%85\"><\/span>\u4e21\u89aa\u306e\u8ca0\u62c5<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u9577\u671f\u306b\u308f\u305f\u308b\u7406\u5b66\u7642\u6cd5\u3084\u88c5\u5177\u306e\u7ba1\u7406\u304c\u5fc5\u8981\u306a\u305f\u3081\u3001\u5bb6\u65cf\u306e\u8ca0\u62c5\u306f\u5927\u304d\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u30b5\u30dd\u30fc\u30c8\u30b0\u30eb\u30fc\u30d7\u3084\u533b\u7642\u30c1\u30fc\u30e0\u3068\u5354\u529b\u3057\u3066\u3001\u60a3\u8005\u3092\u652f\u3048\u308b\u4f53\u5236\u3092\u6574\u3048\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/18q-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">18q \u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">18q\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300118\u756a\u67d3\u8272\u4f53\u306e\u6b20\u5931\u306b\u3088\u308a\u767a\u9054\u9045\u5ef6\u3084\u77e5\u7684\u969c\u5bb3\u3001\u8074\u529b\u4f4e\u4e0b\u306a\u3069\u306e\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u7684\u75be\u60a3\u3067\u3059\u3002\u65e9\u671f\u306e\u652f\u63f4\u3068\u6cbb\u7642\u306b\u3088\u308a\u751f\u6d3b\u306e\u8cea...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081 17p12\u6b20\u5931\u75c7\u5019\u7fa4\u306f&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":84933,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[58],"tags":[33,43,49,73],"class_list":["post-83601","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genetic-disorder","tag-symptom","tag-gene","tag-genetic-disease","tag-deletion-syndrome"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83601","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=83601"}],"version-history":[{"count":5,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83601\/revisions"}],"predecessor-version":[{"id":112169,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83601\/revisions\/112169"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/84933"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=83601"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=83601"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=83601"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}