{"id":147958,"date":"2026-11-03T03:47:40","date_gmt":"2026-11-02T18:47:40","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/elsahy-waters-syndrome-cdh11\/"},"modified":"2026-11-03T03:47:40","modified_gmt":"2026-11-02T18:47:40","slug":"elsahy-waters-syndrome-cdh11","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/elsahy-waters-syndrome-cdh11\/","title":{"rendered":"\u30a8\u30eb\u30b5\u30d2\u30fb\u30a6\u30a9\u30fc\u30bf\u30fc\u30ba\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n<p 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class=\"wp-block-paragraph\">1971\u5e74\u306b\u3001\u9854\u3084\u984e\uff08\u3042\u3054\uff09\u306e\u3082\u3068\u306b\u306a\u308b\u300c\u9c13\u5f13\uff08\u3055\u3044\u304d\u3085\u3046\uff09\u300d\u3001\u9aa8\u683c\u3001\u6027\u5668\u306e3\u3064\u306b\u7279\u5fb4\u304c\u307f\u3089\u308c\u308b\u75c5\u6c17\u3068\u3057\u3066\u521d\u3081\u3066\u5831\u544a\u3055\u308c\u3001\u5f53\u521d\u306f\u300c\u9c13\u5f13\u30fb\u9aa8\u683c\u30fb\u6027\u5668\u75c7\u5019\u7fa4\uff08branchio-skeleto-genital syndrome\uff09\u300d\u3068\u547c\u3070\u308c\u3066\u3044\u307e\u3057\u305f\u3002<strong>\u5831\u544a\u4f8b\u306f\u4e16\u754c\u3067\u3082\u3054\u304f\u308f\u305a\u304b\u3067\u3001\u75c7\u72b6\u306e\u5e45\u3084\u9577\u3044\u76ee\u3067\u898b\u305f\u7d4c\u904e\u306b\u3064\u3044\u3066\u306f\u3001\u307e\u3060\u5206\u304b\u3063\u3066\u3044\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u75c5\u6c17\u3067\u3059\u3002<\/strong><\/p>\n\n\n<p 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class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>CDH11<\/strong> \u306f\u3001<strong>\u300c\u30ab\u30c9\u30d8\u30ea\u30f311\u300d\u3068\u3044\u3046\u3001\u7d30\u80de\u3069\u3046\u3057\u3092\u304f\u3063\u3064\u3051\u308b\u201c\u306e\u308a\u201d\u306e\u5f79\u5272\u3092\u3059\u308b\u305f\u3093\u3071\u304f\u8cea<\/strong>\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u9aa8\u3092\u3064\u304f\u308b\u7d30\u80de\uff08\u9aa8\u82bd\u7d30\u80de\uff09\u306b\u591a\u304f\u898b\u3089\u308c\u308b\u3053\u3068\u304b\u3089\u300c\u9aa8\u82bd\u7d30\u80de\u30ab\u30c9\u30d8\u30ea\u30f3\u300d\u3068\u3082\u547c\u3070\u308c\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u304a\u306a\u304b\u306e\u8d64\u3061\u3083\u3093\u306e\u9854\u3084\u984e\u3001\u6b6f\u3001\u9aa8\u306f\u3001<strong>\u3082\u3068\u306b\u306a\u308b\u7d30\u80de\u304c\u6c7a\u307e\u3063\u305f\u5834\u6240\u306b\u96c6\u307e\u308a\u3001\u4e92\u3044\u306b\u304f\u3063\u3064\u304d\u5408\u3044\u306a\u304c\u3089\u5f62\u3092\u3064\u304f\u3063\u3066\u3044\u304d\u307e\u3059<\/strong>\u3002\u30ab\u30c9\u30d8\u30ea\u30f311\u304c\u306f\u305f\u3089\u304b\u306a\u3044\u3068\u3001<strong>\u3053\u306e\u7d30\u80de\u3069\u3046\u3057\u306e\u3064\u306a\u304c\u308a\u3084\u79fb\u52d5\u304c\u3046\u307e\u304f\u3044\u304b\u305a\u3001\u9854\u306e\u9aa8\u30fb\u6b6f\u30fb\u9996\u306e\u9aa8\u306a\u3069\u306e\u5f62\u3065\u304f\u308a\u306b\u5f71\u97ff\u304c\u51fa\u308b<\/strong>\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<p 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class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n<p 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class=\"wp-block-paragraph\">\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u3001\u30a8\u30eb\u30b5\u30d2\u30fb\u30a6\u30a9\u30fc\u30bf\u30fc\u30ba\u75c7\u5019\u7fa4\u3067\u306f <strong>CDH11<\/strong> \u907a\u4f1d\u5b50\u306b\u7236\u65b9\u30fb\u6bcd\u65b9\u305d\u308c\u305e\u308c\u7531\u6765\u306e\u5909\u5316\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002<strong>\u4f3c\u305f\u9854\u3064\u304d\u3092\u793a\u3059\u75c5\u6c17\u306f\u591a\u304f\u3001\u907a\u4f1d\u5f62\u5f0f\u3082\u3055\u307e\u3056\u307e\u306a\u305f\u3081\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306f\u3001\u4eca\u5f8c\u306e\u898b\u901a\u3057\u3084\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3092\u6b63\u3057\u304f\u304a\u4f1d\u3048\u3059\u308b\u3046\u3048\u3067\u5927\u304d\u306a\u610f\u5473\u304c\u3042\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u73fe\u6642\u70b9\u3067\u3001\u3053\u306e\u75c5\u6c17\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u6cbb\u7642\uff08\u5bfe\u75c7\u7642\u6cd5\uff09\u3068\u3001\u6210\u9577\u30fb\u767a\u9054\u306e\u652f\u63f4\u3092\u3001<strong>\u5c0f\u5150\u79d1\u30fb\u6b6f\u79d1\u30fb\u53e3\u8154\u5916\u79d1\u30fb\u5f62\u6210\u5916\u79d1\u30fb\u6ccc\u5c3f\u5668\u79d1\u306a\u3069\u8907\u6570\u306e\u8a3a\u7642\u79d1\u304c\u9023\u643a\u3057\u3066<\/strong>\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b6f\u79d1\u30fb\u53e3\u8154\u5916\u79d1\u3067\u306e\u5b9a\u671f\u7684\u306a\u7ba1\u7406<\/strong>\uff1a\u6b6f\u306e\u6839\u306e\u72b6\u614b\u3084\u984e\u306e\u56a2\u80de\u3092\u5b9a\u671f\u7684\u306b\u78ba\u8a8d\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u56a2\u80de\u306e\u6cbb\u7642\u3084\u6b6f\u306e\u6cbb\u7642\u30fb\u88dc\u7db4\uff08\u5165\u308c\u6b6f\u306a\u3069\uff09\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u9854\u306e\u5f62\u306e\u6cbb\u7642<\/strong>\uff1a\u9854\u306e\u5de6\u53f3\u5dee\u3084\u9aa8\u683c\u306e\u554f\u984c\u306b\u5bfe\u3057\u3066\u3001\u6210\u9577\u3092\u898b\u306a\u304c\u3089\u5f62\u6210\u5916\u79d1\u30fb\u53e3\u8154\u5916\u79d1\u306e\u624b\u8853\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u5c3f\u9053\u4e0b\u88c2\u306e\u624b\u8853<\/strong>\uff1a\u6ccc\u5c3f\u5668\u79d1\u3067\u6642\u671f\u3092\u76f8\u8ac7\u3057\u3066\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u9996\u306e\u9aa8\u306e\u8a55\u4fa1<\/strong>\uff1a\u9838\u690e\u306e\u7652\u5408\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u6574\u5f62\u5916\u79d1\u3067\u7d4c\u904e\u3092\u78ba\u8a8d\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u767a\u9054\u306e\u652f\u63f4<\/strong>\uff1a\u7642\u80b2\u3084\u3053\u3068\u3070\u306e\u8a13\u7df4\u3001\u5c31\u5b66\u306b\u5411\u3051\u305f\u652f\u63f4\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li>\u805e\u3053\u3048\u3084\u76ee\u306e\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af<\/li>\n\n\n<\/ul>\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>CDH11<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n<p class=\"wp-block-paragraph\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>CDH11<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/carrier-screening-1200\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c81,200\uff0b\u306e\u30da\u30fc\u30b8<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>CDH11<\/strong>\uff08cadherin-11\u3001OB-cadherin\uff09\u306f<strong>\u9593\u8449\u7cfb\u7d30\u80de\u306b\u767a\u73fe\u3059\u308b\u53e4\u5178\u7684\u2161\u578b\u30ab\u30c9\u30d8\u30ea\u30f3<\/strong>\u3067\u3001\u30ab\u30eb\u30b7\u30a6\u30e0\u4f9d\u5b58\u6027\u306e\u540c\u7a2e\u89aa\u548c\u6027\u7d30\u80de\u63a5\u7740\u3092\u62c5\u3046\u3002\u9aa8\u82bd\u7d30\u80de\u3001\u795e\u7d4c\u5824\u7531\u6765\u306e\u982d\u84cb\u9854\u9762\u9593\u8449\u3001\u6b6f\u306e\u767a\u751f\u306b\u95a2\u308f\u308b\u9593\u8449\u306b\u767a\u73fe\u3057\u3001<strong>\u7d30\u80de\u306e\u51dd\u96c6\u30fb\u79fb\u52d5\u30fb\u5206\u5316\u306e\u5236\u5fa1<\/strong>\u306b\u95a2\u4e0e\u3059\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u30a8\u30eb\u30b5\u30d2\u30fb\u30a6\u30a9\u30fc\u30bf\u30fc\u30ba\u75c7\u5019\u7fa4\u306f\u3001<strong>2018\u5e74\u306b\u8907\u6570\u5bb6\u7cfb\u306e\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u304b\u3089 CDH11 \u306e\u4e21\u30a2\u30ec\u30eb\u6027\u6a5f\u80fd\u55aa\u5931\u578b\u5909\u7570\uff08\u30ca\u30f3\u30bb\u30f3\u30b9\u30fb\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u306a\u3069\uff09\u304c\u539f\u56e0\u3068\u540c\u5b9a\u3055\u308c\u305f<\/strong>\u3002\u4e2d\u6838\u75c7\u72b6\u306f<strong>\u773c\u9593\u958b\u96e2\u30fb\u773c\u7403\u7a81\u51fa\u30fb\u4e2d\u9854\u9762\u4f4e\u5f62\u6210\u30fb\u77ed\u982d\u3092\u4f34\u3046\u9854\u8c8c\u3001\u6839\u90e8\u8c61\u7259\u8cea\u7570\u5f62\u6210\u3068\u6b6f\u306e\u840c\u51fa\u969c\u5bb3\u3001\u6b6f\u539f\u6027\u56a2\u80de\u3001\u9032\u884c\u6027\u306e\u9854\u9762\u975e\u5bfe\u79f0\u3001\u9838\u690e\u7652\u5408\u3001\u5c3f\u9053\u4e0b\u88c2\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/strong>\u3067\u3042\u308b\u3002<strong>\u4e00\u65b9\u3001CDH11 \u306e\u30d8\u30c6\u30ed\u63a5\u5408\u6027\u5909\u7570\uff08\u7d30\u80de\u5916\u30c9\u30e1\u30a4\u30f3\u306e\u30df\u30b9\u30bb\u30f3\u30b9\u306a\u3069\uff09\u306f\u3001\u9855\u6027\u907a\u4f1d\u306e\u30c6\u30a3\u30fc\u30d3\u30fc\u578b\u773c\u9593\u958b\u96e2\u75c7\u5019\u7fa4\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u540c\u4e00\u907a\u4f1d\u5b50\u3067\u6a5f\u80fd\u55aa\u5931\uff08\u6f5c\u6027\uff09\u3068\u6a5f\u80fd\u5909\u5316\uff08\u9855\u6027\uff09\u306b\u3088\u308b\u7570\u306a\u308b\u8868\u73fe\u578b\u3092\u3068\u308b\u70b9\u304c\u6ce8\u76ee\u3055\u308c\u308b<\/strong>\u3002\u5831\u544a\u4f8b\u304c\u5c11\u306a\u304f\u3001\u907a\u4f1d\u578b\u3068\u8868\u73fe\u578b\u306e\u95a2\u9023\u306f\u307e\u3060\u5341\u5206\u306b\u78ba\u7acb\u3057\u3066\u3044\u306a\u3044\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u30c6\u30a3\u30fc\u30d3\u30fc\u578b\u773c\u9593\u958b\u96e2\u75c7\u5019\u7fa4\uff08<em>SPECC1L<\/em>\u3001<em>CDH11<\/em> \u30d8\u30c6\u30ed\u63a5\u5408\uff09\u3001\u524d\u982d\u9f3b\u7570\u5f62\u6210\u75c7\u3001\u30aa\u30d4\u30c3\u30c4G\/BBB\u75c7\u5019\u7fa4\uff08\u5c3f\u9053\u4e0b\u88c2\u3068\u773c\u9593\u958b\u96e2\u3092\u4f34\u3046\uff09\u3001\u982d\u84cb\u524d\u982d\u9f3b\u75c7\u5019\u7fa4\uff08<em>EFNB1<\/em>\u3001X\u9023\u9396\uff09\u306a\u3069\u304c\u6319\u304c\u308b\u3002<strong>\u3053\u308c\u3089\u306f\u907a\u4f1d\u5f62\u5f0f\u304c\u7570\u306a\u308a\u3001\u6b21\u5b50\u518d\u767a\u7387\u304c25%\uff08\u6f5c\u6027\uff09\u300150%\uff08\u9855\u6027\uff09\u3001\u307b\u307c0%\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u3068\u5927\u304d\u304f\u9055\u3046\u305f\u3081\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u76f4\u7d50\u3059\u308b\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/strong>\u4f3c\u305f\u9854\u3064\u304d\u3092\u793a\u3059\u75c5\u6c17\u306b\u306f\u3001\u9855\u6027\u907a\u4f1d\u306e\u3082\u306e\u3084\u5076\u767a\u7684\u306b\u8d77\u3053\u308b\u3082\u306e\u3082\u3042\u308a\u3001\u305d\u308c\u305e\u308c\u518d\u767a\u7387\u304c\u7570\u306a\u308a\u307e\u3059\u3002<strong>\u6b63\u78ba\u306a\u898b\u901a\u3057\u306e\u305f\u3081\u306b\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u598a\u5a20\u4e2d\u306b\u5206\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u3001\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3060\u3051\u3067\u898b\u3064\u3051\u308b\u3053\u3068\u306f\u96e3\u3057\u304f\u3001\u591a\u304f\u306f\u751f\u307e\u308c\u305f\u3042\u3068\u306b\u9854\u3064\u304d\u3084\u6b6f\u306e\u69d8\u5b50\u304b\u3089\u6c17\u3065\u304b\u308c\u307e\u3059\u3002<\/strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3084\u3054\u5bb6\u65cf\u3067\u539f\u56e0\u306e\u907a\u4f1d\u5b50\u5909\u5316\u304c\u5206\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u51fa\u751f\u524d\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u691c\u8a0e\u3067\u304d\u307e\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u540c\u3058\u907a\u4f1d\u5b50\u3067\u5225\u306e\u75c5\u6c17\u3082\u3042\u308b\u3068\u805e\u304d\u307e\u3057\u305f\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u306f\u3044\u3002<strong>CDH11 \u907a\u4f1d\u5b50\u306e\u7247\u65b9\u3060\u3051\u306b\u7279\u5b9a\u306e\u5909\u5316\u304c\u3042\u308b\u5834\u5408\u306b\u306f\u3001\u76ee\u3068\u76ee\u306e\u9593\u9694\u304c\u5e83\u3044\u3053\u3068\u3092\u4e3b\u306a\u7279\u5fb4\u3068\u3059\u308b\u5225\u306e\u75c5\u6c17\uff08\u30c6\u30a3\u30fc\u30d3\u30fc\u578b\u773c\u9593\u958b\u96e2\u75c7\u5019\u7fa4\uff09\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u30a8\u30eb\u30b5\u30d2\u30fb\u30a6\u30a9\u30fc\u30bf\u30fc\u30ba\u75c7\u5019\u7fa4\u306f\u30012\u672c\u3068\u3082\u5909\u5316\u3057\u3066\u3044\u308b\u5834\u5408\u306b\u8d77\u3053\u308a\u3001\u6b6f\u306e\u6839\u306e\u7570\u5e38\u3084\u9996\u306e\u9aa8\u306e\u7652\u5408\u3092\u4f34\u3044\u3084\u3059\u3044\u70b9\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5927\u4eba\u306b\u306a\u308b\u307e\u3067\u3001\u3069\u306e\u3088\u3046\u306a\u898b\u5b88\u308a\u304c\u5fc5\u8981\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u6b6f\u306e\u6839\u306e\u7570\u5e38\u3084\u984e\u306e\u56a2\u80de\u3001\u9854\u306e\u5de6\u53f3\u5dee\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5316\u3059\u308b\u305f\u3081\u3001\u6b6f\u79d1\u30fb\u53e3\u8154\u5916\u79d1\u3067\u306e\u5b9a\u671f\u7684\u306a\u78ba\u8a8d\u304c\u3068\u304f\u306b\u5927\u5207\u3067\u3059\u3002<\/strong>\u3042\u308f\u305b\u3066\u3001\u767a\u9054\u306e\u652f\u63f4\u3001\u805e\u3053\u3048\u3084\u76ee\u306e\u30c1\u30a7\u30c3\u30af\u306a\u3069\u3092\u3001\u6210\u9577\u306b\u5408\u308f\u305b\u3066\u7d9a\u3051\u3066\u3044\u304d\u307e\u3059\u3002\u5831\u544a\u4f8b\u304c\u5c11\u306a\u3044\u75c5\u6c17\u306e\u305f\u3081\u3001\u62c5\u5f53\u306e\u533b\u5e2b\u3068\u3088\u304f\u76f8\u8ac7\u3057\u306a\u304c\u3089\u9032\u3081\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u4f55\u3092\u76f8\u8ac7\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u8a3a\u65ad\u306e\u610f\u5473\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3001\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\u524d\u691c\u67fb\u306e\u9078\u629e\u80a2\u3001\u3054\u304d\u3087\u3046\u3060\u3044\u3084\u3054\u89aa\u65cf\u3078\u306e\u5f71\u97ff\u306a\u3069\u3092\u3054\u76f8\u8ac7\u3044\u305f\u3060\u3051\u307e\u3059\u3002\u5224\u65ad\u3092\u6025\u304c\u305b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>Elsahy NI, Waters WR. The branchio-skeleto-genital syndrome: a new hereditary syndrome. <em>Plast Reconstr Surg<\/em>. 1971;48(6):542-550.<\/li>\n\n\n\n<li>Harms FL, Nampoothiri S, Anazi S, et al. Elsahy-Waters syndrome is caused by biallelic mutations in CDH11. <em>Am J Med Genet A<\/em>. 2018;176(2):477-482.<\/li>\n\n\n\n<li>OMIM #211380 Elsahy-Waters syndrome. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>OMIM *600023 Cadherin 11; CDH11. Online Mendelian Inheritance in Man.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147958","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/147958","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":0,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/147958\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147958"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}