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class=\"wp-block-paragraph\">\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u306a\u3069\u3068\u75c7\u72b6\u304c\u91cd\u306a\u308b\u305f\u3081\u3001\u75c7\u72b6\u3060\u3051\u3067\u533a\u5225\u3059\u308b\u306e\u306f\u96e3\u3057\u304f\u3001\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u307e\u3059\u3002\u30af\u30ea\u30b9\u30c1\u30e3\u30f3\u30bd\u30f3\u578b\u3067\u306f <strong>SLC9A6<\/strong> \u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002\u3042\u308f\u305b\u3066\u304a\u6bcd\u3055\u307e\u304c\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001<strong>\u6b21\u306e\u304a\u5b50\u3055\u307e\u306e\u898b\u901a\u3057\u3092\u6b63\u3057\u304f\u304a\u4f1d\u3048\u3059\u308b\u3053\u3068\u304c\u3067\u304d\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\u3092\u6839\u672c\u304b\u3089\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u7814\u7a76\u306f\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u5b9f\u969b\u306e\u6cbb\u7642\u3068\u3057\u3066\u4f7f\u3048\u308b\u6bb5\u968e\u306b\u306f\u81f3\u3063\u3066\u3044\u307e\u305b\u3093\u3002<strong>\u5c0f\u5150\u795e\u7d4c\u79d1\u3092\u4e2d\u5fc3\u306b\u3001\u591a\u304f\u306e\u5c02\u9580\u8077\u304c\u5354\u529b\u3057\u3066\u3001\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u6cbb\u7642\u3068\u767a\u9054\u306e\u652f\u63f4\u3092\u9577\u304f\u7d9a\u3051\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\u306e\u6cbb\u7642<\/strong>\uff1a\u6297\u3066\u3093\u304b\u3093\u85ac\u3092\u4f7f\u3044\u307e\u3059\u3002\u8907\u6570\u306e\u85ac\u306e\u7d44\u307f\u5408\u308f\u305b\u3084\u8abf\u6574\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u3067\u3001\u59ff\u52e2\u3092\u4fdd\u3064\u529b\u3001\u6b69\u304f\u529b\u3001\u624b\u306e\u52d5\u304d\u3092\u652f\u3048\u307e\u3059<\/li>\n\n\n\n<li><strong>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u652f\u63f4<\/strong>\uff1a\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\u3084\u3001\u7d75\u30ab\u30fc\u30c9\u30fb\u6a5f\u5668\u306a\u3069\u8a00\u8449\u4ee5\u5916\u3067\u4f1d\u3048\u308b\u624b\u6bb5\u3092\u53d6\u308a\u5165\u308c\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6804\u990a\u3068\u98df\u4e8b\u306e\u652f\u63f4<\/strong>\uff1a\u4f53\u91cd\u306e\u5897\u3048\u306b\u304f\u3055\u3084\u98f2\u307f\u8fbc\u307f\u306e\u554f\u984c\u306b\u5bfe\u3057\u3001\u98df\u4e8b\u306e\u5f62\u306e\u5de5\u592b\u3084\u6804\u990a\u7ba1\u7406\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u7761\u7720\u30fb\u884c\u52d5\u9762\u306e\u652f\u63f4\u3001\u7642\u80b2\u30fb\u7279\u5225\u652f\u63f4\u6559\u80b2<\/strong><\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf<\/strong>\uff1a\u6210\u9577\u3001\u6b69\u304f\u529b\u306e\u5909\u5316\u3001\u76ee\u306e\u52d5\u304d\u3001\u80cc\u9aa8\u306e\u66f2\u304c\u308a\uff08\u5074\u5f2f\uff09\u306a\u3069\u3092\u78ba\u8a8d\u3057\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\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3001\u5fc3\u7406\u7684\u306a\u652f\u3048<\/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>SLC9A6<\/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>SLC9A6<\/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\u306fX\u9023\u9396\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308b\u305f\u3081\u3001<strong>\u304a\u6bcd\u3055\u307e\u304c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u306e\u5834\u5408\u3001\u7537\u306e\u5b50\u3067\u306f2\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059<\/strong>\uff08\u5973\u306e\u5b50\u3067\u306f2\u5206\u306e1\u306e\u78ba\u7387\u3067\u30ad\u30e3\u30ea\u30a2\u3068\u306a\u308a\u307e\u3059\uff09\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>SLC9A6<\/strong> \u306f Xq26.3 \u306b\u4f4d\u7f6e\u3057\u3001<strong>\u30a8\u30f3\u30c9\u30bd\u30fc\u30e0\u578b\u30ca\u30c8\u30ea\u30a6\u30e0\uff0f\u6c34\u7d20\u30a4\u30aa\u30f3\u4ea4\u63db\u8f38\u9001\u4f53 NHE6<\/strong> \u3092\u30b3\u30fc\u30c9\u3059\u308b\u3002NHE6 \u306f\u521d\u671f\u30a8\u30f3\u30c9\u30bd\u30fc\u30e0\u304a\u3088\u3073\u30ea\u30b5\u30a4\u30af\u30ea\u30f3\u30b0\u30a8\u30f3\u30c9\u30bd\u30fc\u30e0\u306e\u5185\u8154 pH \u3092\u8abf\u7bc0\u3057\u3066\u304a\u308a\u3001\u6b20\u640d\u3067\u306f<strong>\u5185\u8154\u306e\u904e\u9178\u6027\u5316\u3001\u30a8\u30f3\u30c9\u30bd\u30fc\u30e0\u6210\u719f\u3068\u819c\u8f38\u9001\u306e\u969c\u5bb3\u3001\u795e\u7d4c\u7a81\u8d77\u306e\u5206\u679d\u30fb\u30b7\u30ca\u30d7\u30b9\u5f62\u6210\u306e\u4f4e\u4e0b\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u6a5f\u80fd\u969c\u5bb3<\/strong>\u304c\u751f\u3058\u308b\u3002\u5256\u691c\u4f8b\u3067\u306f\u795e\u7d4c\u7d30\u80de\u30fb\u30b0\u30ea\u30a2\u306e\u8131\u843d\u3068\u30bf\u30a6\u84c4\u7a4d\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\uff08Garbern \u3089\u30012010\u5e74\uff09\u3001<strong>\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u306b\u52a0\u3048\u3066\u795e\u7d4c\u5909\u6027\u306e\u8981\u7d20\u3092\u3082\u3064<\/strong>\u70b9\u304c\u7279\u5fb4\u3067\u3042\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u672c\u75c7\u306f1999\u5e74\u306b Christianson \u3089\u304c\u5357\u30a2\u30d5\u30ea\u30ab\u306e\u5927\u5bb6\u7cfb\u3067\u5831\u544a\u3057\u30012008\u5e74\u306b Gilfillan \u3089\u304c<strong>\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u69d8\u306e\u8868\u73fe\u578b\u3092\u793a\u3059\u7537\u6027\u3067 SLC9A6 \u5909\u7570\u3092\u540c\u5b9a<\/strong>\u3057\u305f\u3002\u5909\u7570\u306e\u591a\u304f\u306f\u30ca\u30f3\u30bb\u30f3\u30b9\u3001\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u3001\u30b9\u30d7\u30e9\u30a4\u30b9\u7570\u5e38\u3001\u6b20\u5931\u306a\u3069\u306e\u6a5f\u80fd\u55aa\u5931\u578b\u3067\u3042\u308b\u3002\u4e3b\u8981\u6240\u898b\u306f<strong>\u91cd\u5ea6<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u8a71\u3057\u8a00\u8449\u306e\u6b20\u5982\u3001\u3066\u3093\u304b\u3093\u3001\u904b\u52d5\u5931\u8abf\u3001\u5f8c\u5929\u6027\u5c0f\u982d\u75c7\u3001\u591a\u52d5\u3001\u9032\u884c\u6027\u5c0f\u8133\u840e\u7e2e<\/strong>\u3067\u3001<strong>\u4e00\u90e8\u3067\u306f\u601d\u6625\u671f\u4ee5\u964d\u306b\u904b\u52d5\u6a5f\u80fd\u306e\u9000\u884c\u304c\u307f\u3089\u308c\u308b<\/strong>\u3002\u30d8\u30c6\u30ed\u63a5\u5408\u306e\u5973\u6027\u306f\u7121\u75c7\u72b6\u304b\u3089\u8efd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/learning-disabilities-genetics-support\/\">\u5b66\u7fd2\u969c\u5bb3<\/a>\u30fb\u884c\u52d5\u7279\u6027\u307e\u3067\u5e45\u304c\u3042\u308a\u3001X\u67d3\u8272\u4f53\u4e0d\u6d3b\u5316\u306e\u504f\u308a\u306e\u5f71\u97ff\u304c\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\uff08<em>UBE3A<\/em>\u300115q11-q13 \u306e\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u7570\u5e38\u3092\u542b\u3080\uff09\u3001\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\uff08<em>MECP2<\/em>\uff09\u3001\u30d4\u30c3\u30c8\u30fb\u30db\u30d7\u30ad\u30f3\u30b9\u75c7\u5019\u7fa4\uff08<em>TCF4<\/em>\uff09\u3001\u30e2\u30ef\u30c3\u30c8\u30fb\u30a6\u30a3\u30eb\u30bd\u30f3\u75c7\u5019\u7fa4\uff08<em>ZEB2<\/em>\uff09\u3001\u4ed6\u306e X\u9023\u9396<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u6319\u304c\u308b\u3002<strong>\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u306e\u30e1\u30c1\u30eb\u5316\u691c\u67fb\u304c\u9670\u6027\u3067\u3001\u7537\u5150\u306b\u5f8c\u5929\u6027\u5c0f\u982d\u75c7\u30fb\u3066\u3093\u304b\u3093\u30fb\u904b\u52d5\u5931\u8abf\u30fb\u5c0f\u8133\u840e\u7e2e\u3092\u8a8d\u3081\u308b\u5834\u5408\u306f\u672c\u75c7\u3092\u8003\u616e\u3059\u308b\u3002<\/strong>\u6b21\u5b50\u518d\u767a\u7387\u306f\u3001\u6bcd\u304c\u4fdd\u56e0\u8005\u3067\u3042\u308c\u3070\u7537\u5150\u306750%\u3001\u65b0\u751f\u7a81\u7136\u5909\u7570\u3067\u3042\u308c\u3070\u4f4e\u3044\u304c\u3001\u6027\u817a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u306e\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u30810%\u3068\u306f\u3044\u3048\u306a\u3044\u3002<strong>\u907a\u4f1d\u5f62\u5f0f\u3068\u518d\u767a\u7387\u304c\u9451\u5225\u75be\u60a3\u3054\u3068\u306b\u7570\u306a\u308b\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\u306fX\u9023\u9396\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u304a\u6bcd\u3055\u307e\u304c\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u7537\u306e\u5b50\u3067\u306f2\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u3001\u5973\u306e\u5b50\u3067\u306f2\u5206\u306e1\u306e\u78ba\u7387\u3067\u30ad\u30e3\u30ea\u30a2\u3068\u306a\u308a\u307e\u3059\u3002<\/strong>\u304a\u6bcd\u3055\u307e\u304c\u30ad\u30e3\u30ea\u30a2\u3067\u306a\u304f\u65b0\u751f\u7a81\u7136\u5909\u7570\u3067\u8d77\u304d\u305f\u5834\u5408\u3001\u518d\u767a\u306e\u53ef\u80fd\u6027\u306f\u4f4e\u304f\u306a\u308a\u307e\u3059\u304c\u3001\u30bc\u30ed\u3068\u306f\u3044\u3048\u307e\u305b\u3093\u3002<strong>\u304a\u6bcd\u3055\u307e\u304c\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u8abf\u3079\u308b\u3053\u3068\u304c\u3001\u898b\u901a\u3057\u3092\u8003\u3048\u308b\u3046\u3048\u3067\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>\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u306f\u3001\u307b\u3068\u3093\u3069\u306e\u5834\u5408\u308f\u304b\u308a\u307e\u305b\u3093\u3002<\/strong>\u3054\u5bb6\u65cf\u3067\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u3059\u3067\u306b\u308f\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\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. \u5973\u306e\u5b50\u3082\u767a\u75c7\u3057\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u5178\u578b\u7684\u306a\u75c7\u72b6\u304c\u51fa\u308b\u306e\u306f\u3001\u304a\u3082\u306b\u7537\u306e\u5b50\u3067\u3059\u3002<\/strong>\u5973\u306e\u5b50\u306fX\u67d3\u8272\u4f53\u30922\u672c\u3082\u3064\u305f\u3081\u3001\u591a\u304f\u306f\u75c7\u72b6\u304c\u306a\u3044\u304b\u8efd\u304f\u3059\u307f\u307e\u3059\u3002\u305f\u3060\u3057\u3001<strong>\u5b66\u7fd2\u306e\u56f0\u96e3\u3084\u884c\u52d5\u9762\u306e\u7279\u5fb4\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/strong>\u306e\u3067\u3001\u6c17\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308c\u3070\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u3068\u306f\u9055\u3046\u306e\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u75c7\u72b6\u306f\u3088\u304f\u4f3c\u3066\u3044\u307e\u3059\u304c\u3001<strong>\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u3082\u907a\u4f1d\u306e\u3057\u304b\u305f\u3082\u7570\u306a\u308a\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3082\u9055\u3044\u307e\u3059\u3002<\/strong>\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u306e\u691c\u67fb\u3067\u7570\u5e38\u304c\u898b\u3064\u304b\u3089\u306a\u304b\u3063\u305f\u7537\u306e\u5b50\u3067\u306f\u3001\u3053\u306e\u75c5\u6c17\u3092\u542b\u3081\u3066\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u306b\u610f\u5473\u304c\u3042\u308a\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>Christianson AL, Stevenson RE, van der Meyden CH, et al. X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27. <em>J Med Genet<\/em>. 1999;36(10):759-766.<\/li>\n\n\n\n<li>Gilfillan GD, Selmer KK, Roxrud I, et al. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. <em>Am J Hum Genet<\/em>. 2008;82(4):1003-1010.<\/li>\n\n\n\n<li>Garbern JY, Neumann M, Trojanowski JQ, et al. A mutation affecting the sodium\/proton exchanger, SLC9A6, causes mental retardation with tau deposition. <em>Brain<\/em>. 2010;133(Pt 5):1391-1402.<\/li>\n\n\n\n<li>Pescosolido MF, Stein DM, Schmidt M, et al. Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome. <em>Ann Neurol<\/em>. 2014;76(4):581-593.<\/li>\n\n\n\n<li>OMIM #300243 Intellectual developmental disorder, X-linked syndromic, Christianson type. 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-147839","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\/147839","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\/147839\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147839"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}