{"id":83491,"date":"2024-11-14T14:13:42","date_gmt":"2024-11-14T05:13:42","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83491"},"modified":"2026-03-04T14:09:56","modified_gmt":"2026-03-04T05:09:56","slug":"5q12_deletion_syndrome-2","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q12_deletion_syndrome-2\/","title":{"rendered":"5q12\u6b20\u5931\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p>\u6838\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3068\u306a\u308b\u7a00\u5c11\u75be\u60a3\u3001\u30b3\u30b1\u30a4\u30f3\u75c7\u5019\u7fa4\u3068\u30ea\u30fc\u75c7\u5019\u7fa4\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306b\u7126\u70b9\u3092\u5f53\u3066\u305f\u8a18\u4e8b\u3067\u3059\u3002\u3053\u308c\u3089\u306e\u75be\u60a3\u306f\u3001\u60a3\u8005\u306e\u6210\u9577\u3084\u591a\u304f\u306e\u81d3\u5668\u6a5f\u80fd\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u3001\u75c7\u72b6\u306e\u9032\u884c\u6027\u3084\u91cd\u75c7\u5ea6\u306f\u3055\u307e\u3056\u307e\u3067\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u75be\u60a3\u306e\u7279\u5fb4\u3001\u8a3a\u65ad\u6cd5\u3001\u6cbb\u7642\u306e\u9078\u629e\u80a2\u3092\u4e01\u5be7\u306b\u8aac\u660e\u3057\u3001\u60a3\u8005\u3084\u305d\u306e\u5bb6\u65cf\u304c\u76f4\u9762\u3059\u308b\u8ab2\u984c\u306b\u5bc4\u308a\u6dfb\u3044\u307e\u3059\u3002<\/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\" 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\/5q12_deletion_syndrome-2\/#%E3%81%93%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E5%BA%A7%E3%81%AB%E3%81%82%E3%82%8B%E7%96%BE%E6%82%A3%E3%81%AB%E9%96%A2%E4%B8%8E%E3%81%99%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%8C%E9%AB%98%E3%81%84%E9%81%BA%E4%BC%9D%E5%AD%90\" >\u3053\u306e\u907a\u4f1d\u5b50\u5ea7\u306b\u3042\u308b\u75be\u60a3\u306b\u95a2\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u907a\u4f1d\u5b50<\/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\/5q12_deletion_syndrome-2\/#%EF%BC%91_ERCC8%E3%80%80%E3%82%B3%E3%82%B1%E3%82%A4%E3%83%B3%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88Cockayne_Syndrome%EF%BC%89\" >[\uff11_ERCC8]\u3000\u30b3\u30b1\u30a4\u30f3\u75c7\u5019\u7fa4\uff08Cockayne Syndrome\uff09<\/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\/5q12_deletion_syndrome-2\/#%EF%BC%92_NDUFAF2%E3%80%80%E6%A0%B8%E9%81%BA%E4%BC%9D%E5%AD%90%E3%82%B3%E3%83%BC%E3%83%89%E5%8C%96%E3%83%AA%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A4%E3%82%B9%E3%83%9A%E3%82%AF%E3%83%88%E3%83%A9%E3%83%A0%EF%BC%88Nuclear_Gene-Encoded_Leigh_Syndrome_Spectrum%EF%BC%89\" >[\uff12_NDUFAF2]\u3000\u6838\u907a\u4f1d\u5b50\u30b3\u30fc\u30c9\u5316\u30ea\u30fc\u75c7\u5019\u7fa4\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff08Nuclear Gene-Encoded Leigh Syndrome Spectrum\uff09<\/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\/5q12_deletion_syndrome-2\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\" >\u5f15\u7528\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E5%BA%A7%E3%81%AB%E3%81%82%E3%82%8B%E7%96%BE%E6%82%A3%E3%81%AB%E9%96%A2%E4%B8%8E%E3%81%99%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%8C%E9%AB%98%E3%81%84%E9%81%BA%E4%BC%9D%E5%AD%90\"><\/span>\u3053\u306e\u907a\u4f1d\u5b50\u5ea7\u306b\u3042\u308b\u75be\u60a3\u306b\u95a2\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u907a\u4f1d\u5b50<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/997ac3a7fcb1296ed23d18410109503e-1024x20.png\" alt=\"5q12\u3000\" class=\"wp-image-90937\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<figure class=\"wp-block-table\"><table><tbody><tr><td class=\"has-text-align-center\" data-align=\"center\"><strong>S\/N<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>\u907a\u4f1d\u5b50\u540d<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>\u95a2\u9023\u3059\u308b\u75be\u60a3\u540d<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>Associated disease name<\/strong><\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff11<\/td><td class=\"has-text-align-center\" data-align=\"center\">ERCC8<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30b3\u30b1\u30a4\u30f3\u75c7\u5019\u7fa4<\/td><td class=\"has-text-align-center\" data-align=\"center\">Cockayne Syndrome<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff12<\/td><td class=\"has-text-align-center\" data-align=\"center\">NDUFAF2<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u6838\u907a\u4f1d\u5b50\u30b3\u30fc\u30c9\u5316\u30ea\u30fc\u75c7\u5019\u7fa4\u30b9\u30da\u30af\u30c8\u30e9\u30e0<\/td><td class=\"has-text-align-center\" data-align=\"center\">Nuclear Gene-Encoded Leigh Syndrome Spectrum<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"923\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chromo5-MeDRNUcKWLAeMACReMAAALLX.png\" alt=\"chromo5\" class=\"wp-image-89830\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%91_ERCC8%E3%80%80%E3%82%B3%E3%82%B1%E3%82%A4%E3%83%B3%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88Cockayne_Syndrome%EF%BC%89\"><\/span>[\uff11_ERCC8]\u3000\u30b3\u30b1\u30a4\u30f3\u75c7\u5019\u7fa4\uff08Cockayne Syndrome\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/997ac3a7fcb1296ed23d18410109503e-1024x20.png\" alt=\"5q12\u3000\" class=\"wp-image-90937\"\/><\/figure><\/div>\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/6527038e95cbae6dcd2e58421ef0858a-1024x20.png\" alt=\"ERCC8\u3000\" class=\"wp-image-90940\"\/><\/figure>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30b3\u30b1\u30a4\u30f3\u75c7\u5019\u7fa4\uff08Cockayne syndrome, CS\uff09\u306f\u3001\u907a\u4f1d\u5b50ERCC8\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u975e\u5e38\u306b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3001\u6210\u9577\u969c\u5bb3\u3084\u591a\u304f\u306e\u81d3\u5668\u3084\u6a5f\u80fd\u306e\u7570\u5e38\u304c\u4e3b\u306a\u7279\u5fb4\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u9032\u884c\u6027\u3067\u3042\u308a\u3001\u75c7\u72b6\u304c\u6642\u9593\u3068\u3068\u3082\u306b\u60aa\u5316\u3059\u308b\u70b9\u304c\u91cd\u8981\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u305d\u306e\u767a\u75c7\u6642\u671f\u3084\u9032\u884c\u306e\u901f\u3055\u3001\u75c7\u72b6\u306e\u91cd\u3055\u306f\u500b\u4eba\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002CS\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001\u4e21\u89aa\u304c\u305d\u308c\u305e\u308c\u75c5\u539f\u6027\u5909\u7570\u3092\u6301\u3064\u5834\u5408\u3001\u5b50\u3069\u3082\u304c\u3053\u306e\u75be\u60a3\u3092\u767a\u75c7\u3059\u308b\u78ba\u7387\u306f25%\u3067\u3059\u3002<\/p>\n\n\n\n<p>CS\u306e\u75c7\u72b6\u306f\u591a\u5c90\u306b\u308f\u305f\u308a\u3001\u7d2b\u5916\u7dda\u3078\u306e\u904e\u654f\u6027\uff08\u5149\u7dda\u904e\u654f\u6027\uff09\u304c\u9855\u8457\u306a\u307b\u304b\u3001\u6210\u9577\u9045\u5ef6\u3001\u8457\u3057\u3044\u4f53\u91cd\u6e1b\u5c11\u306b\u3088\u308b\u75e9\u305b\u578b\u5c0f\u4eba\u75c7\u3001\u65e9\u8001\u69d8\u306e\u5916\u898b\u304c\u7279\u5fb4\u3067\u3059\u3002\u307e\u305f\u3001\u8996\u529b\u3084\u8074\u529b\u304c\u5f90\u3005\u306b\u4f4e\u4e0b\u3057\u3001\u795e\u7d4c\u7cfb\u306e\u91cd\u5ea6\u306e\u9000\u884c\u304c\u307f\u3089\u308c\u307e\u3059\u3002\u7279\u306b\u8133\u306e\u767d\u8cea\u306b\u304a\u3051\u308b\u8131\u9ac4\uff08\u9ac4\u9798\u306e\u6e1b\u5c11\uff09\u3084\u5c0f\u8133\u306e\u840e\u7e2e\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u9032\u884c\u3068\u3044\u3063\u305f\u795e\u7d4c\u5b66\u7684\u306a\u7279\u5fb4\u304c\u9855\u8457\u3067\u3059\u3002\u4e00\u65b9\u3067\u3001\u5149\u7dda\u904e\u654f\u6027\u304c\u3042\u308b\u306b\u3082\u304b\u304b\u308f\u3089\u305a\u3001\u76ae\u819a\u304c\u3093\u306e\u30ea\u30b9\u30af\u306f\u5897\u52a0\u3057\u306a\u3044\u3068\u3044\u3046\u70b9\u304c\u3001\u4f3c\u305f\u75be\u60a3\u3067\u3042\u308b\u8272\u7d20\u6027\u4e7e\u76ae\u75c7\uff08Xeroderma Pigmentosum\uff09\u3068\u7570\u306a\u308b\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/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\/3611103_s.jpg\" alt=\"\u3042\u307e\u308a\u898b\u3048\u306a\u3044\" class=\"wp-image-90947\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>CS\u306f\u4e3b\u306b4\u3064\u306e\u81e8\u5e8a\u578b\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002\u305d\u308c\u305e\u308c\u306e\u578b\u306f\u3001\u75c7\u72b6\u306e\u91cd\u3055\u3084\u767a\u75c7\u6642\u671f\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u300c\u30af\u30e9\u30b7\u30c3\u30af\u578b\u300d\uff08CS\u30bf\u30a4\u30d7I\uff09\u306f\u6700\u3082\u4e00\u822c\u7684\u3067\u3001\u751f\u5f8c\u3057\u3070\u3089\u304f\u306f\u6b63\u5e38\u306a\u6210\u9577\u3092\u793a\u3057\u307e\u3059\u304c\u3001\u5e7c\u5150\u671f\u306b\u6210\u9577\u969c\u5bb3\u3084\u767a\u9054\u9045\u5ef6\u304c\u660e\u3089\u304b\u306b\u306a\u308a\u307e\u3059\u3002\u300c\u91cd\u75c7\u578b\u300d\uff08CS\u30bf\u30a4\u30d7II\uff09\u306f\u51fa\u751f\u6642\u304b\u3089\u6210\u9577\u4e0d\u5168\u3084\u795e\u7d4c\u767a\u9054\u306e\u6b20\u5982\u304c\u898b\u3089\u308c\u3001\u901a\u5e38\u30015\u6b73\u672a\u6e80\u3067\u6b7b\u4ea1\u3057\u307e\u3059\u3002\u300c\u8efd\u75c7\u578b\u300d\uff08CS\u30bf\u30a4\u30d7III\uff09\u306f\u7a00\u306a\u578b\u3067\u3001\u75c7\u72b6\u304c\u5c0f\u5150\u671f\u5f8c\u534a\u4ee5\u964d\u306b\u73fe\u308c\u308b\u9045\u767a\u578b\u304c\u7279\u5fb4\u3067\u3059\u3002\u307e\u305f\u3001\u6700\u3082\u91cd\u3044\u578b\u3068\u3057\u3066\u300c\u8133\u773c\u9854\u9aa8\u683c\u75c7\u5019\u7fa4\u300d\uff08COFS\u75c7\u5019\u7fa4\uff09\u304c\u3042\u308a\u3001\u80ce\u5150\u671f\u306b\u8a3a\u65ad\u53ef\u80fd\u306a\u91cd\u5ea6\u306e\u767a\u9054\u7570\u5e38\u3092\u4f34\u3044\u307e\u3059\u3002\u3053\u306e\u578b\u3067\u306f\u3001\u80ce\u5150\u671f\u304b\u3089\u306e\u6210\u9577\u969c\u5bb3\u3084\u95a2\u7bc0\u62d8\u7e2e\u3001\u5148\u5929\u6027\u767d\u5185\u969c\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>CS\u306e\u8a3a\u65ad\u306f\u3001\u60a3\u8005\u306e\u81e8\u5e8a\u7684\u306a\u7279\u5fb4\u3092\u89b3\u5bdf\u3059\u308b\u3053\u3068\u306b\u52a0\u3048\u3001\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u3063\u3066\u884c\u308f\u308c\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001MRI\u691c\u67fb\u3067\u767d\u8cea\u306e\u8131\u9ac4\u3084\u5c0f\u8133\u306e\u840e\u7e2e\u3092\u78ba\u8a8d\u3057\u305f\u308a\u3001\u7d2b\u5916\u7dda\u611f\u53d7\u6027\u8a66\u9a13\u3084\u795e\u7d4c\u4f1d\u5c0e\u901f\u5ea6\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u3067\u8a3a\u65ad\u304c\u88dc\u52a9\u3055\u308c\u307e\u3059\u3002ERCC8\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u78ba\u8a8d\u3055\u308c\u308b\u60a3\u8005\u306f\u3001CS\u5168\u4f53\u306e\u7d0435%\u306b\u306e\u307c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/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\/28429172_s.jpg\" alt=\"\" class=\"wp-image-87940\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>CS\u306e\u6cbb\u7642\u306f\u3001\u4e3b\u306b\u75c7\u72b6\u3092\u7de9\u548c\u3057\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u3092\u76ee\u7684\u3068\u3057\u305f\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u305f\u3068\u3048\u3070\u3001\u6210\u9577\u969c\u5bb3\u3084\u6804\u990a\u4e0d\u8db3\u306b\u5bfe\u3059\u308b\u652f\u63f4\u3068\u3057\u3066\u7d4c\u7ba1\u6804\u990a\u304c\u884c\u308f\u308c\u308b\u307b\u304b\u3001\u767a\u9054\u9045\u5ef6\u306b\u306f\u500b\u5225\u6559\u80b2\u30d7\u30ed\u30b0\u30e9\u30e0\u304c\u5c0e\u5165\u3055\u308c\u307e\u3059\u3002\u7406\u5b66\u7642\u6cd5\u306f\u3001\u95a2\u7bc0\u62d8\u7e2e\u3092\u9632\u3050\u305f\u3081\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002\u307e\u305f\u3001\u5149\u7dda\u904e\u654f\u6027\u3092\u6301\u3064\u60a3\u8005\u306b\u306f\u3001\u30b5\u30f3\u30b0\u30e9\u30b9\u3084\u65e5\u713c\u3051\u6b62\u3081\u3092\u4f7f\u7528\u3057\u3066\u7d2b\u5916\u7dda\u304b\u3089\u4fdd\u8b77\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002\u3055\u3089\u306b\u3001\u8996\u899a\u3084\u8074\u899a\u306e\u969c\u5bb3\u306b\u306f\u88dc\u52a9\u6a5f\u5668\u3092\u4f7f\u7528\u3057\u3001\u6b6f\u79d1\u30b1\u30a2\u3067\u306f\u866b\u6b6f\u3092\u4e88\u9632\u3059\u308b\u305f\u3081\u306e\u7a4d\u6975\u7684\u306a\u6cbb\u7642\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5\u3084\u7279\u5b9a\u306e\u85ac\u5264\uff08\u4f8b\uff1a\u30e1\u30c8\u30ed\u30cb\u30c0\u30be\u30fc\u30eb\u3084\u30aa\u30d4\u30aa\u30a4\u30c9\u7cfb\u93ae\u75db\u5264\uff09\u306f\u907f\u3051\u308b\u3079\u304d\u3067\u3059\u3002<\/p>\n\n\n\n<p>CS\u306f\u9032\u884c\u6027\u306e\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u5065\u5eb7\u30c1\u30a7\u30c3\u30af\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u534a\u5e74\u3054\u3068\u306e\u98df\u4e8b\u3084\u795e\u7d4c\u7cfb\u3001\u773c\u79d1\u7684\u8a55\u4fa1\u306e\u307b\u304b\u3001\u5e741\u56de\u306e\u8074\u529b\u3001\u809d\u6a5f\u80fd\u3001\u814e\u6a5f\u80fd\u306e\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u7279\u306b\u91cd\u75c7\u578b\u306e\u60a3\u8005\u3067\u306f\u3001\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u306e\u7a4d\u6975\u7684\u306a\u533b\u7642\u652f\u63f4\u304c\u5fc5\u8981\u3068\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/2654496_s.jpg\" alt=\"\u6c34\u5206\u88dc\u7d66\" class=\"wp-image-90349\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306f\u3001CS\u60a3\u8005\u3084\u305d\u306e\u5bb6\u65cf\u306b\u3068\u3063\u3066\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u901a\u3058\u3066\u3001\u75be\u60a3\u306e\u907a\u4f1d\u7684\u80cc\u666f\u3084\u5c06\u6765\u7684\u306a\u30ea\u30b9\u30af\u3092\u6b63\u3057\u304f\u7406\u89e3\u3059\u308b\u3053\u3068\u3067\u3001\u533b\u7642\u3084\u30e9\u30a4\u30d5\u30d7\u30e9\u30f3\u306e\u8a08\u753b\u3092\u7acb\u3066\u308b\u52a9\u3051\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u6642\u70b9\u3067\u306f\u3001CS\u3092\u6839\u6cbb\u3059\u308b\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u65e9\u671f\u306b\u8a3a\u65ad\u3057\u3001\u9069\u5207\u306a\u30b1\u30a2\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u53ef\u80fd\u306a\u9650\u308a\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u307e\u305f\u3001\u5bb6\u65cf\u3078\u306e\u652f\u63f4\u3082\u91cd\u8981\u3067\u3042\u308a\u3001\u9069\u5207\u306a\u60c5\u5831\u63d0\u4f9b\u3068\u30b5\u30dd\u30fc\u30c8\u304c\u3001\u5bb6\u65cf\u306e\u8ca0\u62c5\u8efd\u6e1b\u306b\u5bc4\u4e0e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/7p22-1-microduplication-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">7p22.1\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">7p22.1\u30de\u30a4\u30af\u30ed\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001\u67d3\u8272\u4f537p22.1\u9818\u57df\u306e\u90e8\u5206\u91cd\u8907\u306b\u3088\u308b\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001RNF216\u3084ACTB\u306a\u3069\u306e\u907a\u4f1d\u5b50\u306e...<\/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<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%92_NDUFAF2%E3%80%80%E6%A0%B8%E9%81%BA%E4%BC%9D%E5%AD%90%E3%82%B3%E3%83%BC%E3%83%89%E5%8C%96%E3%83%AA%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A4%E3%82%B9%E3%83%9A%E3%82%AF%E3%83%88%E3%83%A9%E3%83%A0%EF%BC%88Nuclear_Gene-Encoded_Leigh_Syndrome_Spectrum%EF%BC%89\"><\/span>[\uff12_NDUFAF2]\u3000\u6838\u907a\u4f1d\u5b50\u30b3\u30fc\u30c9\u5316\u30ea\u30fc\u75c7\u5019\u7fa4\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff08Nuclear Gene-Encoded Leigh Syndrome Spectrum\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/997ac3a7fcb1296ed23d18410109503e-1024x20.png\" alt=\"5q12\u3000\" class=\"wp-image-90937\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/NDUFAF2-hgtIdeo_genome_1a02a_ef0b00-1024x20.png\" alt=\"NDUFAF2 \" class=\"wp-image-90943\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u6838\u907a\u4f1d\u5b50\u306b\u7531\u6765\u3059\u308bNDUFAF2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u30ea\u30fc\u75c7\u5019\u7fa4\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff08Leigh Syndrome Spectrum, LSS\uff09\u3068\u547c\u3070\u308c\u308b\u7a00\u5c11\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u4e3b\u306b\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u4e0d\u5168\u3092\u539f\u56e0\u3068\u3057\u3066\u304a\u308a\u3001\u60a3\u8005\u306e\u8eab\u4f53\u306b\u6df1\u523b\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002NDUFAF2\u907a\u4f1d\u5b50\u306f\u30015q12\u3068\u547c\u3070\u308c\u308b\u30b2\u30ce\u30e0\u9818\u57df\u306b\u4f4d\u7f6e\u3057\u3001NADH\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\uff08\u30e6\u30d3\u30ad\u30ce\u30f3\uff091\u03b1\u30b5\u30d6\u30b3\u30f3\u30d7\u30ec\u30c3\u30af\u30b9\u30a2\u30bb\u30f3\u30d6\u30ea\u30fc\u30d5\u30a1\u30af\u30bf\u30fc2\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\uff08Complex I\uff09\u306e\u7d44\u307f\u7acb\u3066\u306b\u95a2\u4e0e\u3059\u308b\u5206\u5b50\u30b7\u30e3\u30da\u30ed\u30f3\u3068\u3057\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u304a\u308a\u3001NADH\u304b\u3089\u547c\u5438\u9396\u3078\u306e\u96fb\u5b50\u4f1d\u9054\u3092\u62c5\u3044\u307e\u3059\u3002\u8907\u5408\u4f53I\u306e\u96fb\u5b50\u53d7\u5bb9\u4f53\u306f\u30e6\u30d3\u30ad\u30ce\u30f3\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/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\/24920183_s.jpg\" alt=\"\u624b\u3092\u512a\u3057\u304f\u63e1\u308d\u3046\" class=\"wp-image-90954\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>NDUFAF2\u907a\u4f1d\u5b50\u304c\u6b63\u5e38\u306b\u6a5f\u80fd\u3057\u306a\u3044\u5834\u5408\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53I\u6b20\u640d\u75c7\u6838\u578b10\uff08MC1DN10\uff09\u3068\u547c\u3070\u308c\u308b\u72b6\u614b\u304c\u751f\u3058\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u969c\u5bb3\u3067\u6700\u3082\u4e00\u822c\u7684\u306a\u751f\u5316\u5b66\u7684\u7279\u5fb4\u3067\u3042\u308a\u3001\u9178\u5316\u7684\u30ea\u30f3\u9178\u5316\u306b\u304a\u3051\u308b\u6b20\u9665\u304c\u539f\u56e0\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u7a2e\u306e\u75be\u60a3\u306f\u3001\u51fa\u751f1\u4e07\u4eba\u304b\u30895\u4e07\u4eba\u306b1\u4eba\u306e\u5272\u5408\u3067\u767a\u751f\u3057\u3001\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u306f\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u65b0\u751f\u5150\u671f\u306b\u81f4\u547d\u7684\u306a\u75be\u60a3\u3068\u3057\u3066\u73fe\u308c\u308b\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u6210\u4eba\u671f\u306b\u306a\u3063\u3066\u521d\u3081\u3066\u767a\u75c7\u3059\u308b\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3068\u3057\u3066\u73fe\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u75c7\u72b6\u306f\u591a\u5c90\u306b\u308f\u305f\u308a\u3001\u5de8\u982d\u75c7\u3092\u4f34\u3046\u9032\u884c\u6027\u767d\u8cea\u8133\u75c7\u3001\u975e\u7279\u7570\u7684\u306a\u8133\u75c7\u3001\u5fc3\u7b4b\u75c7\u3001\u7b4b\u529b\u4f4e\u4e0b\u3001\u809d\u75be\u60a3\u3001\u30ea\u30fc\u75c7\u5019\u7fa4\u3001\u30ec\u30fc\u30d0\u30fc\u907a\u4f1d\u6027\u8996\u795e\u7d4c\u75c7\u3001\u3055\u3089\u306b\u306f\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u306e\u4e00\u90e8\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3067\u907a\u4f1d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30ea\u30fc\u75c7\u5019\u7fa4\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306f\u3001\u5178\u578b\u7684\u306a\u30ea\u30fc\u75c7\u5019\u7fa4\uff08Leigh Syndrome\uff09\u3068\u30ea\u30fc\u69d8\u75c7\u5019\u7fa4\uff08Leigh-like Syndrome\uff09\u306e2\u3064\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002\u30ea\u30fc\u75c7\u5019\u7fa4\u306f\u6025\u6027\u58ca\u6b7b\u6027\u8133\u75c7\u306e\u4e00\u7a2e\u3068\u3055\u308c\u3001\u611f\u67d3\u75c7\u3092\u5951\u6a5f\u306b\u8840\u6db2\u3084\u9ac4\u6db2\u4e2d\u306e\u4e73\u9178\u5024\u306e\u4e0a\u6607\u304c\u3057\u3070\u3057\u3070\u898b\u3089\u308c\u308b\u4ee3\u8b1d\u7570\u5e38\u304c\u7279\u5fb4\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u3067\u306f\u3001\u5fc3\u7406\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u3084\u9000\u884c\u304c\u898b\u3089\u308c\u308b\u307b\u304b\u3001\u795e\u7d4c\u5b66\u7684\u75c7\u72b6\u3068\u3057\u3066\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u75d9\u6027\u3001\u904b\u52d5\u5931\u8abf\u3001\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u5fc3\u80a5\u5927\u3001\u904e\u5270\u6bdb\u75c7\u3001\u8ca7\u8840\u3001\u814e\u5c3f\u7d30\u7ba1\u969c\u5bb3\u3001\u809d\u969c\u5bb3\u3001\u773c\u77bc\u4e0b\u5782\u3001\u7b4b\u529b\u4f4e\u4e0b\u306a\u3069\u3001\u5168\u8eab\u306b\u308f\u305f\u308b\u75c7\u72b6\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u767a\u75c7\u306f\u901a\u5e38\u3001\u751f\u5f8c3\uff5e12\u30ab\u6708\u9803\u3067\u3001\u30a6\u30a4\u30eb\u30b9\u611f\u67d3\u5f8c\u306b\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u60a3\u8005\u306e\u7d04\u534a\u6570\u306f3\u6b73\u307e\u3067\u306b\u547c\u5438\u4e0d\u5168\u3084\u5fc3\u4e0d\u5168\u3067\u4ea1\u304f\u306a\u308a\u307e\u3059\u304c\u3001\u767a\u75c7\u304c\u9045\u3044\u5834\u5408\u3084\u6210\u4eba\u671f\u307e\u3067\u751f\u5b58\u3059\u308b\u30b1\u30fc\u30b9\u3082\u7a00\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/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\/26499131_s.jpg\" alt=\"\u697d\u3057\u304f\u8a3a\u65ad\u3057\u307e\u3057\u3087\u3046\" class=\"wp-image-90957\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u4e00\u65b9\u3001\u30ea\u30fc\u69d8\u75c7\u5019\u7fa4\u306f\u3001\u30ea\u30fc\u75c7\u5019\u7fa4\u306b\u4f3c\u305f\u81e8\u5e8a\u7684\u7279\u5fb4\u3092\u6301\u3061\u306a\u304c\u3089\u3082\u3001\u8a3a\u65ad\u57fa\u6e96\u3092\u5b8c\u5168\u306b\u306f\u6e80\u305f\u3055\u306a\u3044\u5834\u5408\u306b\u7528\u3044\u3089\u308c\u308b\u7528\u8a9e\u3067\u3059\u3002\u4f8b\u3048\u3070\u3001MRI\u753b\u50cf\u304c\u975e\u5178\u578b\u7684\u3067\u3042\u3063\u305f\u308a\u3001\u30a8\u30cd\u30eb\u30ae\u30fc\u4ee3\u8b1d\u7570\u5e38\u306e\u660e\u78ba\u306a\u8a3c\u62e0\u304c\u4e0d\u8db3\u3057\u3066\u3044\u308b\u5834\u5408\u306a\u3069\u3067\u3059\u3002<\/p>\n\n\n\n<p>1951\u5e74\u306b\u521d\u3081\u3066\u8a18\u8f09\u3055\u308c\u305f\u30ea\u30fc\u75c7\u5019\u7fa4\u306f\u3001\u57fa\u5e95\u6838\u3084\u8996\u5e8a\u3001\u8133\u5e79\u3001\u5c0f\u8133\u6b6f\u72b6\u6838\u3001\u8996\u795e\u7d4c\u306b\u591a\u767a\u6027\u3067\u5bfe\u79f0\u7684\u306a\u58ca\u6b7b\u6027\u75c5\u5909\u3092\u4f34\u3046\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002\u3053\u308c\u3089\u306e\u75c5\u5909\u306f\u3001\u7d44\u7e54\u5b66\u7684\u306b\u306f\u8131\u9ac4\u3084\u30b0\u30ea\u30aa\u30fc\u30b7\u30b9\u3001\u8840\u7ba1\u5897\u6b96\u306a\u3069\u3092\u4f34\u3046\u30b9\u30dd\u30f3\u30b8\u72b6\u306e\u5916\u89b3\u3092\u793a\u3057\u307e\u3059\u3002\u8fd1\u5e74\u306eMRI\u6280\u8853\u306e\u767a\u5c55\u306b\u3088\u308a\u3001\u75c5\u7406\u89e3\u5256\u3092\u884c\u308f\u306a\u304f\u3066\u3082\u8a3a\u65ad\u3092\u78ba\u5b9a\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"480\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24409177_s.jpg\" alt=\"\u307a\u3053\u307a\u3053\" class=\"wp-image-90960\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u6cbb\u7642\u306f\u4e3b\u306b\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u5bfe\u51e6\u7642\u6cd5\u304c\u4e2d\u5fc3\u3067\u3059\u304c\u3001\u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u306f\u7279\u5b9a\u306e\u6cbb\u7642\u304c\u6709\u52b9\u3067\u3059\u3002\u4f8b\u3048\u3070\u3001\u30d3\u30bf\u30df\u30f3B\u7fa4\uff08\u30c1\u30a2\u30df\u30f3\u3084\u30d3\u30aa\u30c1\u30f3\uff09\u306e\u6b20\u4e4f\u75c7\u3084\u30b3\u30a8\u30f3\u30b6\u30a4\u30e0Q10\u6b20\u4e4f\u75c7\u306b\u5bfe\u3057\u3066\u306f\u65e9\u671f\u304b\u3089\u306e\u88dc\u5145\u7642\u6cd5\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3084\u767a\u4f5c\u3001\u30b8\u30b9\u30c8\u30cb\u30a2\u3001\u5fc3\u7b4b\u75c7\u3078\u306e\u5bfe\u5fdc\u3001\u6804\u990a\u7ba1\u7406\u3001\u5fc3\u7406\u7684\u652f\u63f4\u3082\u91cd\u8981\u3067\u3059\u3002\u9ebb\u9154\u306e\u4f7f\u7528\u306b\u3064\u3044\u3066\u306f\u3001\u547c\u5438\u4e0d\u5168\u306e\u30ea\u30b9\u30af\u3092\u907f\u3051\u308b\u305f\u3081\u306b\u614e\u91cd\u306a\u76e3\u8996\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6838\u907a\u4f1d\u5b50\u306b\u8d77\u56e0\u3059\u308b\u30ea\u30fc\u75c7\u5019\u7fa4\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306f\u3001\u975e\u5e38\u306b\u591a\u69d8\u3067\u8907\u96d1\u306a\u75be\u60a3\u7fa4\u3067\u3059\u304c\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u6cbb\u7642\u4ecb\u5165\u306b\u3088\u308a\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5927\u304d\u304f\u6539\u5584\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306b\u5bfe\u3059\u308b\u7814\u7a76\u306e\u9032\u5c55\u306f\u3001\u3088\u308a\u52b9\u679c\u7684\u306a\u6cbb\u7642\u6cd5\u306e\u78ba\u7acb\u306b\u5411\u3051\u3066\u306e\u5e0c\u671b\u3092\u3082\u305f\u3089\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/11q13-2-q13-4-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">11q13.2-q13.4\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">11q13.2-q13.4\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300111\u756a\u67d3\u8272\u4f53\u306e\u907a\u4f1d\u7269\u8cea\u306e\u6b20\u5931\u306b\u3088\u308b\u7a00\u306a\u75be\u60a3\u3067\u3001\u767a\u9054\u9045\u5ef6\u3084\u5185\u81d3\u306e\u7570\u5e38\u3001\u884c\u52d5\u554f\u984c\u304c\u7279\u5fb4\u3067\u3059\u3002\u6cbb\u7642\u6cd5\u3084\u5bb6\u65cf...<\/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=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\"><\/span>\u5f15\u7528\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK320989\/\">Rahman S, Thorburn D. Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview. 2015 Oct 1 [Updated 2020 Jul 16]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK320989\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1342\/\">Laugel V. Cockayne Syndrome. 2000 Dec 28 [Updated 2024 Aug 29]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1342\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkae974\">Perez, G., Barber, G. P., Benet-Pages, A., Casper, J., Clawson, H., Diekhans, M., Fischer, C., Gonzalez, J. N., Hinrichs, A. S., Lee, C. M., Nassar, L. R., Raney, B. J., Speir, M. L., van Baren, M. J., Vaske, C. J., Haussler, D., Kent, W. J., &amp; Haeussler, M. (2024). The UCSC Genome Browser database: 2025 update. Nucleic Acids Research, gkae974. https:\/\/doi.org\/10.1093\/nar\/gkae974<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkad1049\">Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., Bhurji, S. K., Boddu, S., Branco Lins, P. R., Brooks, L., Budhanuru Ramaraju, S., Campbell, L. I., Carbajo Martinez, M., Charkhchi, M., Chougule, K., \u2026 Yates, A. D. (2024). Ensembl 2024. Nucleic Acids Research, 52(D1), D891\u2013D899. https:\/\/doi.org\/10.1093\/nar\/gkad1049<\/a><\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\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\u6838\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3068\u306a&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q12_deletion_syndrome-2\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":90972,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[58],"tags":[489,33,74,43,38,49,73],"class_list":["post-83491","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genetic-disorder","tag-nipt-3","tag-symptom","tag-duplication-syndrome","tag-gene","tag-stable-period","tag-genetic-disease","tag-deletion-syndrome"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83491","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=83491"}],"version-history":[{"count":13,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83491\/revisions"}],"predecessor-version":[{"id":125382,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83491\/revisions\/125382"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/90972"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=83491"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=83491"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=83491"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}