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class=\"wp-block-list\">\n<li><strong>\u9996\u306e\u9aa8\u306e\u5b9a\u671f\u7684\u306a\u78ba\u8a8d<\/strong>\uff1a\u4e0d\u5b89\u5b9a\u3055\u304c\u5f37\u3044\u5834\u5408\u306f\u3001\u810a\u9ac4\u3092\u5b88\u308b\u305f\u3081\u306e\u56fa\u5b9a\u624b\u8853\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002\u9ebb\u9154\u3084\u624b\u8853\u306e\u969b\u306b\u3082\u7279\u5225\u306a\u914d\u616e\u304c\u5fc5\u8981\u3067\u3059<\/li>\n\n\n\n<li><strong>\u80a1\u95a2\u7bc0\u30fb\u811a\u30fb\u80cc\u9aa8\u306e\u6574\u5f62\u5916\u79d1\u7684\u6cbb\u7642<\/strong>\uff1a\u5909\u5f62\u3084\u75db\u307f\u306e\u7a0b\u5ea6\u306b\u5fdc\u3058\u3066\u3001\u88c5\u5177\u3084\u624b\u8853\u3092\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\u95a2\u7bc0\u306e\u52d5\u304d\u3092\u4fdd\u3061\u3001\u65e5\u5e38\u751f\u6d3b\u306e\u52d5\u4f5c\u3092\u652f\u3048\u307e\u3059<\/li>\n\n\n\n<li><strong>\u767a\u9054\u652f\u63f4\u30fb\u7642\u80b2<\/strong>\uff1a\u304a\u5b50\u3055\u307e\u306e\u767a\u9054\u306e\u72b6\u614b\u306b\u5408\u308f\u305b\u305f\u6559\u80b2\u3084\u652f\u63f4\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4<\/strong>\uff1a\u798f\u7949\u5236\u5ea6\u306e\u5229\u7528\u3084\u3001\u3054\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u8aac\u660e\u3082\u542b\u3081\u3066\u76f8\u8ac7\u306b\u5fdc\u3058\u307e\u3059<\/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>DYM<\/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>DYM<\/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\">\u3053\u306e\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u305f\u3081\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>\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\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>DYM<\/strong> \u304c\u30b3\u30fc\u30c9\u3059\u308b\u30c0\u30a4\u30e1\u30af\u30ea\u30f3\u306f\u3001<strong>\u30b4\u30eb\u30b8\u88c5\u7f6e\u306b\u5c40\u5728\u3057\u3001\u30b4\u30eb\u30b8\u4f53\u306e\u69cb\u9020\u7dad\u6301\u3068\u5c0f\u80de\u8f38\u9001\u306b\u95a2\u4e0e\u3059\u308b<\/strong>\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u305f\u3093\u3071\u304f\u8cea\u3067\u3042\u308b\u30022003\u5e74\u306b2\u3064\u306e\u7814\u7a76\u30b0\u30eb\u30fc\u30d7\u306b\u3088\u3063\u3066\u3001\u672c\u75c7\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u3057\u3066\u72ec\u7acb\u306b\u540c\u5b9a\u3055\u308c\u305f\u3002\u60a3\u8005\u306e\u591a\u304f\u3067<strong>\u6a5f\u80fd\u55aa\u5931\u578b\uff08\u30ca\u30f3\u30bb\u30f3\u30b9\u3001\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u3001\u30b9\u30d7\u30e9\u30a4\u30b9\u7570\u5e38\uff09\u306e\u5909\u7570<\/strong>\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u8edf\u9aa8\u7d30\u80de\u3067\u306f\u7d30\u80de\u5916\u57fa\u8cea\u6210\u5206\u306e\u5206\u6ccc\u969c\u5bb3\u304c\u60f3\u5b9a\u3055\u308c\u3001<strong>\u75c5\u7406\u5b66\u7684\u306b\u306f\u8edf\u9aa8\u7d30\u80de\u5185\u306e\u62e1\u5f35\u3057\u305f\u7c97\u9762\u5c0f\u80de\u4f53\u3084\u7a7a\u80de<\/strong>\u304c\u8a18\u8f09\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u540c\u4e00\u907a\u4f1d\u5b50\u306b\u3088\u308b\u5bfe\u7acb\u907a\u4f1d\u5b50\u75be\u60a3\u3068\u3057\u3066\u3001\u30b9\u30df\u30b9\u30fb\u30de\u30c3\u30b3\u30fc\u30c8\u9aa8\u7570\u5f62\u6210\u75c71\u578b\u304c\u3042\u308b<\/strong>\u3002\u9aa8\u683c\u8868\u73fe\u578b\u306f\u672c\u75c7\u3068\u307b\u307c\u540c\u4e00\uff08\u77ed\u4f53\u5e79\u578b\u4f4e\u8eab\u9577\u3001\u6241\u5e73\u690e\u3001\u8178\u9aa8\u7a1c\u306e\u30ec\u30fc\u30b9\u72b6\u5909\u5316\u3001\u74b0\u8ef8\u690e\u4e0d\u5b89\u5b9a\u6027\uff09\u3060\u304c\u3001<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3068\u5c0f\u982d\u75c7\u3092\u6b20\u304f<\/strong>\u70b9\u3067\u533a\u5225\u3055\u308c\u308b\u3002\u30b9\u30df\u30b9\u30fb\u30de\u30c3\u30b3\u30fc\u30c8\u9aa8\u7570\u5f62\u6210\u75c71\u578b\u3067\u306f\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u306a\u3069\u6b8b\u5b58\u6a5f\u80fd\u3092\u793a\u5506\u3059\u308b\u5909\u7570\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001<strong>\u8133\u3067\u306e\u30c0\u30a4\u30e1\u30af\u30ea\u30f3\u6a5f\u80fd\u304c\u3069\u306e\u7a0b\u5ea6\u4fdd\u305f\u308c\u308b\u304b\u304c\u795e\u7d4c\u5b66\u7684\u8868\u73fe\u578b\u3092\u5de6\u53f3\u3059\u308b<\/strong>\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002\u306a\u304a\u3001\u30b9\u30df\u30b9\u30fb\u30de\u30c3\u30b3\u30fc\u30c8\u9aa8\u7570\u5f62\u6210\u75c72\u578b\u306f <em>RAB33B<\/em> \u3092\u539f\u56e0\u3068\u3059\u308b\u5225\u306e\u75be\u60a3\u3067\u3042\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u81e8\u5e8a\u7684\u306b\u306f<strong>\u51fa\u751f\u6642\u306f\u6b63\u5e38\u3067\u3001\u4e73\u5150\u671f\u301c\u5e7c\u5150\u671f\u306b\u9032\u884c\u6027\u306b\u9855\u5728\u5316\u3059\u308b<\/strong>\u305f\u3081\u3001\u80ce\u5150\u671f\u306e\u8d85\u97f3\u6ce2\u3067\u691c\u51fa\u3055\u308c\u308b\u3053\u3068\u306f\u7a00\u3067\u3042\u308b\u3002\u9451\u5225\u3068\u3057\u3066\u306f\u30e0\u30b3\u591a\u7cd6\u75c7IVA\u578b\uff08\u30e2\u30eb\u30ad\u30aaA\u75c7\u5019\u7fa4\u3001<em>GALNS<\/em>\uff09\u3084\u810a\u690e\u9aa8\u7aef\u7570\u5f62\u6210\u75c7\u306e\u5404\u578b\u304c\u6319\u304c\u308b\u3002<strong>\u672c\u75c7\u306f\u5f53\u521d\u30e0\u30b3\u591a\u7cd6\u75c7\u3068\u306e\u95a2\u9023\u304c\u7591\u308f\u308c\u305f\u304c\u3001\u5c3f\u4e2d\u30b0\u30ea\u30b3\u30b5\u30df\u30ce\u30b0\u30ea\u30ab\u30f3\u306f\u6b63\u5e38\u3067\u3001\u84c4\u7a4d\u75c7\u3067\u306f\u306a\u3044<\/strong>\u3002<strong>\u6700\u3082\u91cd\u8981\u306a\u7ba1\u7406\u4e0a\u306e\u8ab2\u984c\u306f\u6b6f\u7a81\u8d77\u4f4e\u5f62\u6210\u306b\u4f34\u3046\u74b0\u8ef8\u690e\u4e0d\u5b89\u5b9a\u6027\u3067\u3001\u810a\u9ac4\u75c7\u306e\u4e88\u9632\u306e\u305f\u3081\u5b9a\u671f\u7684\u306a\u9838\u690e\u8a55\u4fa1\u304c\u63a8\u5968\u3055\u308c\u308b\u3002<\/strong>\u5831\u544a\u306f\u8fd1\u89aa\u5a5a\u306e\u591a\u3044\u96c6\u56e3\u304b\u3089\u306e\u3082\u306e\u304c\u591a\u3044\u3002<\/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>\u767a\u75c7\u3057\u3066\u3044\u306a\u3044\u3054\u304d\u3087\u3046\u3060\u3044\u306f\u30013\u5206\u306e2\u306e\u78ba\u7387\u3067\u30ad\u30e3\u30ea\u30a2\u3068\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\u3057\u3066\u304a\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u5206\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u751f\u307e\u308c\u305f\u3042\u3068\u306b\u5c11\u3057\u305a\u3064\u75c7\u72b6\u304c\u73fe\u308c\u308b\u305f\u3081\u3001\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u898b\u3064\u304b\u308b\u3053\u3068\u306f\u307b\u3068\u3093\u3069\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u5206\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u308b\u51fa\u751f\u524d\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\u77e5\u7684\u306a\u9045\u308c\u306e\u306a\u3044\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>\u540c\u3058 DYM \u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u3082\u3001\u9aa8\u306e\u75c7\u72b6\u3060\u3051\u3067\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u3092\u4f34\u308f\u306a\u3044\u300c\u30b9\u30df\u30b9\u30fb\u30de\u30c3\u30b3\u30fc\u30c8\u9aa8\u7570\u5f62\u6210\u75c7\u300d\u3068\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306e\u7a2e\u985e\u306b\u3088\u3063\u3066\u3001\u8133\u3067\u306e\u306f\u305f\u3089\u304d\u304c\u3069\u306e\u7a0b\u5ea6\u6b8b\u308b\u304b\u304c\u9055\u3046\u305f\u3081\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5927\u4eba\u306b\u306a\u308b\u307e\u3067\u751f\u6d3b\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u591a\u304f\u306e\u65b9\u304c\u6210\u4eba\u671f\u307e\u3067\u6210\u9577\u3055\u308c\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u9996\u306e\u9aa8\u306e\u4e0d\u5b89\u5b9a\u3055\u306b\u3088\u308b\u810a\u9ac4\u306e\u5727\u8feb\u306f\u91cd\u3044\u5f8c\u907a\u75c7\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001<strong>\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf\u3067\u65e9\u3081\u306b\u6c17\u3065\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong>\u95a2\u7bc0\u3084\u80cc\u9aa8\u306e\u5909\u5f62\u306b\u5bfe\u3059\u308b\u6cbb\u7642\u3084\u3001\u767a\u9054\u306b\u5408\u308f\u305b\u305f\u652f\u63f4\u3092\u7d9a\u3051\u308b\u3053\u3068\u3067\u3001\u305d\u306e\u65b9\u3089\u3057\u3044\u751f\u6d3b\u3092\u76ee\u6307\u3057\u307e\u3059\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>Cohn DH, Ehtesham N, Krakow D, et al. Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. <em>Am J Hum Genet<\/em>. 2003;72(2):419-428.<\/li>\n\n\n\n<li>El Ghouzzi V, Dagoneau N, Kinning E, et al. Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. <em>Hum Mol Genet<\/em>. 2003;12(3):357-364.<\/li>\n\n\n\n<li>Bonaf\u00e9 L, Cormier-Daire V, Hall C, et al. Nosology and classification of genetic skeletal disorders: 2015 revision. <em>Am J Med Genet A<\/em>. 2015;167A(12):2869-2892.<\/li>\n\n\n\n<li>OMIM #223800 Dyggve-Melchior-Clausen Dysplasia; DMC. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>OMIM #607326 Smith-McCort Dysplasia 1; SMC1. 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-147930","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\/147930","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\/147930\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147930"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}