{"id":122834,"date":"2026-01-15T11:10:28","date_gmt":"2026-01-15T02:10:28","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122834"},"modified":"2026-03-27T16:44:19","modified_gmt":"2026-03-27T07:44:19","slug":"chitayat-syndrome-erf-gene-clinical-features","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chitayat-syndrome-erf-gene-clinical-features\/","title":{"rendered":"Chitayat syndrome"},"content":{"rendered":"\n<p>Chitayat\u75c7\u5019\u7fa4\u306f\u30012012\u5e74\u306bChitayat\u3089\u306b\u3088\u3063\u3066\u521d\u3081\u3066\u5831\u544a\u3055\u308c\u305f\u3001\u5168\u8eab\u6027\u306e\u767a\u9054\u7570\u5e38\u3092\u4f34\u3046\u6975\u3081\u3066\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001\u624b\u306e\u89aa\u6307\u306b\u898b\u3089\u308c\u308b\u72ec\u7279\u306a\u653e\u5c04\u7dda\u5b66\u7684\u6240\u898b\u3067\u3042\u308a\u3001\u3053\u308c\u306b\u547c\u5438\u5668\u7cfb\u306e\u7570\u5e38\u3084\u7279\u7570\u7684\u306a\u9854\u8c8c\u304c\u7d44\u307f\u5408\u308f\u3055\u308b\u3053\u3068\u3067\u3001\u4e00\u3064\u306e\u81e8\u5e8a\u5358\u4f4d\u3068\u3057\u3066\u5b9a\u7fa9\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u306e\u5206\u5b50\u907a\u4f1d\u5b66\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u672c\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u304c<strong>ERF\u907a\u4f1d\u5b50<\/strong>\u306e\u75c5\u7684\u5909\u7570\u3067\u3042\u308b\u3053\u3068\u304c\u7279\u5b9a\u3055\u308c\u307e\u3057\u305f\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u3053\u306e\u5e0c\u5c11\u306a\u75c7\u5019\u7fa4\u306e\u75c5\u614b\u30e1\u30ab\u30cb\u30ba\u30e0\u304b\u3089\u3001\u81e8\u5e8a\u73fe\u5834\u3067\u6ce8\u76ee\u3059\u3079\u304d\u8a3a\u65ad\u6307\u6a19\u307e\u3067\u3001\u5c02\u9580\u7684\u77e5\u898b\u306b\u57fa\u3065\u304d\u7db2\u7f85\u7684\u306b\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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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\/chitayat-syndrome-erf-gene-clinical-features\/#1_%E5%88%86%E5%AD%90%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E8%83%8C%E6%99%AF%EF%BC%9AERF%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%82%B7%E3%82%B0%E3%83%8A%E3%83%AB%E5%88%B6%E5%BE%A1\" >1. \u5206\u5b50\u907a\u4f1d\u5b66\u7684\u80cc\u666f\uff1aERF\u907a\u4f1d\u5b50\u3068\u30b7\u30b0\u30ca\u30eb\u5236\u5fa1<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chitayat-syndrome-erf-gene-clinical-features\/#ERF%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2%E3%81%A8%E6%A9%9F%E8%83%BD\" >ERF\u907a\u4f1d\u5b50\u306e\u5f79\u5272\u3068\u6a5f\u80fd<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chitayat-syndrome-erf-gene-clinical-features\/#%E4%BB%96%E3%81%AE%E7%96%BE%E6%82%A3%E3%81%A8%E3%81%AE%E9%96%A2%E9%80%A3\" >\u4ed6\u306e\u75be\u60a3\u3068\u306e\u95a2\u9023<\/a><\/li><\/ul><\/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\/chitayat-syndrome-erf-gene-clinical-features\/#2_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E8%87%A8%E5%BA%8A%E6%89%80%E8%A6%8B%EF%BC%9A%E8%A8%BA%E6%96%AD%E3%81%AE%E9%8D%B5%E3%81%A8%E3%81%AA%E3%82%8B%E3%82%B5%E3%82%A4%E3%83%B3\" >2. \u7279\u5fb4\u7684\u306a\u81e8\u5e8a\u6240\u898b\uff1a\u8a3a\u65ad\u306e\u9375\u3068\u306a\u308b\u30b5\u30a4\u30f3<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chitayat-syndrome-erf-gene-clinical-features\/#%E2%91%A0_%E6%89%8B%E3%81%8A%E3%82%88%E3%81%B3%E9%AA%A8%E6%A0%BC%E7%B3%BB%E3%81%AE%E7%95%B0%E5%B8%B8%EF%BC%88%E6%9C%80%E3%82%82%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E3%82%B5%E3%82%A4%E3%83%B3%EF%BC%89\" >\u2460 \u624b\u304a\u3088\u3073\u9aa8\u683c\u7cfb\u306e\u7570\u5e38\uff08\u6700\u3082\u7279\u5fb4\u7684\u306a\u30b5\u30a4\u30f3\uff09<\/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\/chitayat-syndrome-erf-gene-clinical-features\/#%E2%91%A1_%E5%91%BC%E5%90%B8%E5%99%A8%E7%B3%BB%E3%81%AE%E7%95%B0%E5%B8%B8\" >\u2461 \u547c\u5438\u5668\u7cfb\u306e\u7570\u5e38<\/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\/chitayat-syndrome-erf-gene-clinical-features\/#%E2%91%A2_%E7%89%B9%E7%95%B0%E7%9A%84%E3%81%AA%E9%A1%94%E8%B2%8C%EF%BC%88Facial_Dysmorphism%EF%BC%89\" >\u2462 \u7279\u7570\u7684\u306a\u9854\u8c8c\uff08Facial Dysmorphism\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chitayat-syndrome-erf-gene-clinical-features\/#3_%E8%A8%BA%E6%96%AD%E3%83%97%E3%83%AD%E3%82%BB%E3%82%B9%E3%81%A8%E7%AE%A1%E7%90%86%E6%8C%87%E9%87%9D\" >3. \u8a3a\u65ad\u30d7\u30ed\u30bb\u30b9\u3068\u7ba1\u7406\u6307\u91dd<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chitayat-syndrome-erf-gene-clinical-features\/#%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%B8%E3%81%AE%E3%82%B9%E3%83%86%E3%83%83%E3%83%97\" >\u78ba\u5b9a\u8a3a\u65ad\u3078\u306e\u30b9\u30c6\u30c3\u30d7<\/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\/chitayat-syndrome-erf-gene-clinical-features\/#%E5%8C%85%E6%8B%AC%E7%9A%84%E3%83%9E%E3%83%8D%E3%82%B8%E3%83%A1%E3%83%B3%E3%83%88\" >\u5305\u62ec\u7684\u30de\u30cd\u30b8\u30e1\u30f3\u30c8<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chitayat-syndrome-erf-gene-clinical-features\/#4_%E4%BA%88%E5%BE%8C%E3%81%A8%E4%BB%8A%E5%BE%8C%E3%81%AE%E5%B1%95%E6%9C%9B\" >4. \u4e88\u5f8c\u3068\u4eca\u5f8c\u306e\u5c55\u671b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chitayat-syndrome-erf-gene-clinical-features\/#%E7%B5%90%E8%AB%96%EF%BC%9A%E5%B0%82%E9%96%80%E7%9A%84%E7%9F%A5%E8%AD%98%E3%81%AE%E7%B5%B1%E5%90%88%E3%81%8C%E3%80%8C%E5%B8%8C%E5%B0%91%E3%80%8D%E3%82%92%E6%95%91%E3%81%86\" >\u7d50\u8ad6\uff1a\u5c02\u9580\u7684\u77e5\u8b58\u306e\u7d71\u5408\u304c\u300c\u5e0c\u5c11\u300d\u3092\u6551\u3046<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E5%88%86%E5%AD%90%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E8%83%8C%E6%99%AF%EF%BC%9AERF%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%82%B7%E3%82%B0%E3%83%8A%E3%83%AB%E5%88%B6%E5%BE%A1\"><\/span><strong>1. \u5206\u5b50\u907a\u4f1d\u5b66\u7684\u80cc\u666f\uff1aERF\u907a\u4f1d\u5b50\u3068\u30b7\u30b0\u30ca\u30eb\u5236\u5fa1<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Chitayat\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u306f\u300119\u756a\u67d3\u8272\u4f53\uff0819q13.2\uff09\u306b\u4f4d\u7f6e\u3059\u308b<strong>ERF\uff08ETS2 repressor factor\uff09\u907a\u4f1d\u5b50<\/strong>\u306e\u751f\u6b96\u7d30\u80de\u7cfb\u5217\u5909\u7570\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"ERF%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2%E3%81%A8%E6%A9%9F%E8%83%BD\"><\/span><strong>ERF\u907a\u4f1d\u5b50\u306e\u5f79\u5272\u3068\u6a5f\u80fd<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>ERF\u907a\u4f1d\u5b50\u306f\u3001ETS\u30d5\u30a1\u30df\u30ea\u30fc\u306b\u5c5e\u3059\u308b\u8ee2\u5199\u56e0\u5b50\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u4e3b\u306b<strong>RAS\/MAPK\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def<\/strong>\u306e\u4e0b\u6d41\u3067\u300c\u6291\u5236\u56e0\u5b50\uff08\u30ea\u30d7\u30ec\u30c3\u30b5\u30fc\uff09\u300d\u3068\u3057\u3066\u6a5f\u80fd\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30b7\u30b0\u30ca\u30eb\u306e\u6291\u5236:<\/strong> \u901a\u5e38\u3001ERF\u306f\u7279\u5b9a\u306e\u6a19\u7684\u907a\u4f1d\u5b50\u306e\u30d7\u30ed\u30e2\u30fc\u30bf\u30fc\u9818\u57df\u306b\u7d50\u5408\u3057\u3001\u7d30\u80de\u306e\u5897\u6b96\u3084\u5206\u5316\u3092\u4fc3\u9032\u3059\u308b\u907a\u4f1d\u5b50\u306e\u904e\u5270\u306a\u767a\u73fe\u3092\u6291\u3048\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5909\u7570\u306b\u3088\u308b\u5f71\u97ff:<\/strong> ERF\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3068\u3001\u3053\u306e\u6291\u5236\u6a5f\u80fd\u304c\u5931\u308f\u308c\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u672c\u6765\u6291\u5236\u3055\u308c\u308b\u3079\u304d\u30b7\u30b0\u30ca\u30eb\u304c\u904e\u5270\u306b\u6d3b\u6027\u5316\u3057\u3001\u9aa8\u683c\u5f62\u6210\uff08\u7279\u306b\u982d\u84cb\u9aa8\u3084\u6307\u9aa8\uff09\u3084\u8edf\u90e8\u7d44\u7e54\u306e\u767a\u9054\u306b\u7570\u5e38\u3092\u304d\u305f\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BB%96%E3%81%AE%E7%96%BE%E6%82%A3%E3%81%A8%E3%81%AE%E9%96%A2%E9%80%A3\"><\/span><strong>\u4ed6\u306e\u75be\u60a3\u3068\u306e\u95a2\u9023<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>ERF\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u672c\u75c7\u5019\u7fa4\u4ee5\u5916\u306b\u3082\u300c\u30a8\u30eb\u30fb\u30b8\u30e3\u30e9\u30eb\u30fb\u30a2\u30d3\u30fc\u75c7\u5019\u7fa4\uff08ERF\u95a2\u9023\u982d\u84cb\u7e2b\u5408\u65e9\u671f\u9589\u9396\u75c7\uff09\u300d\u306e\u539f\u56e0\u3068\u306a\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002Chitayat\u75c7\u5019\u7fa4\u306f\u3001\u3053\u308c\u3089\u306e\u75be\u60a3\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306e\u4e2d\u3067\u3082\u7279\u306b\u91cd\u75c7\u3001\u3042\u308b\u3044\u306f\u7279\u7570\u7684\u306a\u8868\u73fe\u578b\u3092\u6301\u3064\u30bf\u30a4\u30d7\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E8%87%A8%E5%BA%8A%E6%89%80%E8%A6%8B%EF%BC%9A%E8%A8%BA%E6%96%AD%E3%81%AE%E9%8D%B5%E3%81%A8%E3%81%AA%E3%82%8B%E3%82%B5%E3%82%A4%E3%83%B3\"><\/span><strong>2. \u7279\u5fb4\u7684\u306a\u81e8\u5e8a\u6240\u898b\uff1a\u8a3a\u65ad\u306e\u9375\u3068\u306a\u308b\u30b5\u30a4\u30f3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Chitayat\u75c7\u5019\u7fa4\u306f\u3001\u305d\u306e\u5e0c\u5c11\u3055\u3086\u3048\u306b\u898b\u9003\u3055\u308c\u3084\u3059\u3044\u75be\u60a3\u3067\u3059\u304c\u3001\u4ee5\u4e0b\u306e3\u3064\u306e\u30c9\u30e1\u30a4\u30f3\u306b\u9855\u8457\u306a\u7279\u5fb4\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E6%89%8B%E3%81%8A%E3%82%88%E3%81%B3%E9%AA%A8%E6%A0%BC%E7%B3%BB%E3%81%AE%E7%95%B0%E5%B8%B8%EF%BC%88%E6%9C%80%E3%82%82%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E3%82%B5%E3%82%A4%E3%83%B3%EF%BC%89\"><\/span><strong>\u2460 \u624b\u304a\u3088\u3073\u9aa8\u683c\u7cfb\u306e\u7570\u5e38\uff08\u6700\u3082\u7279\u5fb4\u7684\u306a\u30b5\u30a4\u30f3\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u3092\u5f37\u304f\u793a\u5506\u3059\u308b\u306e\u304c\u3001\u89aa\u6307\uff08\u6bcd\u6307\uff09\u306e\u5f62\u614b\u7570\u5e38\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e09\u5cf0\u6027\u672b\u7bc0\u9aa8\uff08Tri-lobed terminal phalanx\uff09:<\/strong> X\u7dda\u691c\u67fb\u306b\u304a\u3044\u3066\u3001\u89aa\u6307\u306e\u672b\u7bc0\u9aa8\u304c3\u3064\u306e\u5cf0\u3092\u6301\u3064\u3088\u3046\u306a\u3001\u72ec\u7279\u306e\u5f62\u72b6\u3092\u5448\u3057\u307e\u3059\u3002\u3053\u308c\u306fChitayat\u75c7\u5019\u7fa4\u306b\u975e\u5e38\u306b\u7279\u7570\u7684\u306a\u6240\u898b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u77ed\u6307\u75c7:<\/strong> \u5168\u4f53\u7684\u306b\u6307\u304c\u77ed\u304f\u3001\u5e45\u5e83\u306a\u5f62\u72b6\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E5%91%BC%E5%90%B8%E5%99%A8%E7%B3%BB%E3%81%AE%E7%95%B0%E5%B8%B8\"><\/span><strong>\u2461 \u547c\u5438\u5668\u7cfb\u306e\u7570\u5e38<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u751f\u547d\u306b\u95a2\u308f\u308b\u7ba1\u7406\u304c\u5fc5\u8981\u3068\u306a\u308b\u91cd\u8981\u306a\u5408\u4f75\u75c7\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5589\u982d\u8edf\u5316\u75c7\u30fb\u6c17\u7ba1\u8edf\u5316\u75c7:<\/strong> \u6c17\u9053\u306e\u8edf\u9aa8\u304c\u8106\u5f31\u3067\u3042\u308b\u305f\u3081\u3001\u547c\u5438\u6642\u306b\u6c17\u9053\u304c\u865a\u8131\u3057\u3084\u3059\u304f\u3001\u5598\u9cf4\uff08\u30b9\u30c8\u30e9\u30a4\u30c0\u30fc\uff09\u3084\u547c\u5438\u56f0\u96e3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u983b\u56de\u306a\u547c\u5438\u5668\u611f\u67d3\u75c7:<\/strong> \u69cb\u9020\u7684\u306a\u554f\u984c\u306b\u52a0\u3048\u3001\u56a5\u4e0b\u6a5f\u80fd\u306e\u4f4e\u4e0b\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u3001\u8aa4\u56a5\u6027\u80ba\u708e\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E7%89%B9%E7%95%B0%E7%9A%84%E3%81%AA%E9%A1%94%E8%B2%8C%EF%BC%88Facial_Dysmorphism%EF%BC%89\"><\/span><strong>\u2462 \u7279\u7570\u7684\u306a\u9854\u8c8c\uff08Facial Dysmorphism\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5c02\u9580\u533b\u304c\u8996\u8a3a\u3067\u7591\u3044\u3092\u6301\u3064\u304d\u3063\u304b\u3051\u3068\u306a\u308b\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e83\u3044\u984d\u3068\u7a81\u51fa\u3057\u305f\u773c\u7403:<\/strong> \u982d\u84cb\u9aa8\u306e\u5f62\u6210\u7570\u5e38\u306b\u95a2\u9023\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u3044\u9f3b\u6881\u3068\u5e83\u3044\u9f3b\u7ffc:<\/strong> \u9f3b\u306e\u4ed8\u3051\u6839\u304c\u4f4e\u304f\u3001\u9f3b\u306e\u7a74\u304c\u4e0a\u3092\u5411\u3044\u3066\u3044\u308b\u3088\u3046\u306a\u5f62\u72b6\u3002<\/li>\n\n\n\n<li><strong>\u539a\u3044\u5507\u3068\u77ed\u3044\u4eba\u4e2d:<\/strong> \u53e3\u306e\u5468\u308a\u306e\u8edf\u90e8\u7d44\u7e54\u304c\u539a\u3044\u5370\u8c61\u3092\u4e0e\u3048\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%A8%BA%E6%96%AD%E3%83%97%E3%83%AD%E3%82%BB%E3%82%B9%E3%81%A8%E7%AE%A1%E7%90%86%E6%8C%87%E9%87%9D\"><\/span><strong>3. \u8a3a\u65ad\u30d7\u30ed\u30bb\u30b9\u3068\u7ba1\u7406\u6307\u91dd<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Chitayat\u75c7\u5019\u7fa4\u306e\u78ba\u5b9a\u306b\u306f\u3001\u81e8\u5e8a\u75c7\u72b6\u306e\u7d71\u5408\u3068\u907a\u4f1d\u5b66\u7684\u8a3c\u660e\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%B8%E3%81%AE%E3%82%B9%E3%83%86%E3%83%83%E3%83%97\"><\/span><strong>\u78ba\u5b9a\u8a3a\u65ad\u3078\u306e\u30b9\u30c6\u30c3\u30d7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u653e\u5c04\u7dda\u5b66\u7684\u8a55\u4fa1:<\/strong> \u624b\u306e\u30a8\u30c3\u30af\u30b9\u7dda\u64ae\u5f71\u3092\u884c\u3044\u3001\u524d\u8ff0\u306e\u300c\u4e09\u5cf0\u6027\u672b\u7bc0\u9aa8\u300d\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u3053\u308c\u304c\u8a3a\u65ad\u306e\u5f37\u529b\u306a\u6839\u62e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u89e3\u6790 \/ \u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09:<\/strong> ERF\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u540c\u5b9a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u547c\u5438\u6a5f\u80fd\u8a55\u4fa1:<\/strong> \u6c17\u7ba1\u652f\u5185\u8996\u93e1\u691c\u67fb\u7b49\u306b\u3088\u308a\u3001\u6c17\u7ba1\u8edf\u5316\u75c7\u306e\u7a0b\u5ea6\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8C%85%E6%8B%AC%E7%9A%84%E3%83%9E%E3%83%8D%E3%82%B8%E3%83%A1%E3%83%B3%E3%83%88\"><\/span><strong>\u5305\u62ec\u7684\u30de\u30cd\u30b8\u30e1\u30f3\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6839\u672c\u6cbb\u7642\u306f\u5b58\u5728\u3057\u306a\u3044\u305f\u3081\u3001\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u591a\u89d2\u7684\u306a\u4ecb\u5165\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u547c\u5438\u7ba1\u7406:<\/strong> \u91cd\u75c7\u306e\u6c17\u7ba1\u8edf\u5316\u75c7\u306b\u5bfe\u3057\u3066\u306f\u3001CPAP\uff08\u6301\u7d9a\u967d\u5727\u547c\u5438\u7642\u6cd5\uff09\u3084\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u6c17\u7ba1\u5207\u958b\u304c\u5fc5\u8981\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6442\u98df\u30fb\u6804\u990a\u652f\u63f4:<\/strong> \u547c\u5438\u969c\u5bb3\u306b\u4f34\u3046\u5438\u555c\u30fb\u56a5\u4e0b\u56f0\u96e3\u304c\u3042\u308b\u5834\u5408\u3001\u7d4c\u7ba1\u6804\u990a\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8\u304c\u6210\u9577\u306b\u5bc4\u4e0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u9054\u652f\u63f4:<\/strong> \u591a\u304f\u306e\u75c7\u4f8b\u3067\u5168\u822c\u7684\u306a\u767a\u9054\u9045\u6ede\u304c\u8a8d\u3081\u3089\u308c\u308b\u305f\u3081\u3001\u65e9\u671f\u304b\u3089\u306e\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3084\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\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\/2026\/01\/34023712_s.webp\" alt=\"\u533b\u8005\" class=\"wp-image-121690\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E4%BA%88%E5%BE%8C%E3%81%A8%E4%BB%8A%E5%BE%8C%E3%81%AE%E5%B1%95%E6%9C%9B\"><\/span><strong>4. \u4e88\u5f8c\u3068\u4eca\u5f8c\u306e\u5c55\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Chitayat\u75c7\u5019\u7fa4\u306e\u9577\u671f\u7684\u306a\u4e88\u5f8c\u306b\u3064\u3044\u3066\u306f\u3001\u75c7\u4f8b\u6570\u304c\u9650\u3089\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u307e\u3060\u5b8c\u5168\u306b\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u4e73\u5150\u671f\u306e\u547c\u5438\u5668\u7ba1\u7406\u3092\u9069\u5207\u306b\u4e57\u308a\u5207\u308b\u3053\u3068\u3067\u3001\u767a\u9054\u306e\u9045\u308c\u3092\u4f34\u3044\u306a\u304c\u3089\u3082\u5b89\u5b9a\u3057\u305f\u751f\u6d3b\u3092\u9001\u308b\u75c7\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u306e\u7814\u7a76\u3067\u306f\u3001ERF\u5909\u7570\u306b\u3088\u308bRAS\/MAPK\u7d4c\u8def\u306e\u904e\u5270\u6d3b\u6027\u5316\u3092\u3001\u65e2\u5b58\u306e\u5206\u5b50\u6a19\u7684\u85ac\uff08MEK\u963b\u5bb3\u85ac\u306a\u3069\uff09\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3067\u304d\u308b\u53ef\u80fd\u6027\u306b\u3064\u3044\u3066\u3082\u8b70\u8ad6\u304c\u59cb\u307e\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u5c06\u6765\u7684\u306a\u300c\u7cbe\u5bc6\u533b\u7642\uff08\u30d7\u30ec\u30b7\u30b8\u30e7\u30f3\u30fb\u30e1\u30c7\u30a3\u30b7\u30f3\uff09\u300d\u3068\u3057\u3066\u306e\u9078\u629e\u80a2\u306b\u306a\u308b\u3053\u3068\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 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