{"id":17443,"date":"2026-01-22T05:12:27","date_gmt":"2026-01-22T05:12:27","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17443"},"modified":"2026-01-22T05:12:27","modified_gmt":"2026-01-22T05:12:27","slug":"rubinstein-taybi-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/rubinstein-taybi-syndrome\/","title":{"rendered":"Rubinstein-Taybi syndrome"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>RSTS<\/strong><\/li>\n\n\n\n<li><strong>RTS<\/strong><\/li>\n\n\n\n<li><strong>\u5e45\u5e83\u6bcd\u6307\u30fb\u6bcd\u8dbe\u75c7\u5019\u7fa4\uff08Broad Thumb-Hallux Syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>16p13.3\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4<\/strong>\uff08\u539f\u56e0\u304c16\u756a\u67d3\u8272\u4f53\u306e\u6b20\u5931\u306b\u3088\u308b\u5834\u5408\uff09<\/li>\n\n\n\n<li><strong>CREBBP\u95a2\u9023\u30eb\u30d3\u30f3\u30b9\u30bf\u30a4\u30f3\u30fb\u30c6\u30a4\u30d3\u75c7\u5019\u7fa4<\/strong>\uff08RSTS1\uff09<\/li>\n\n\n\n<li><strong>EP300\u95a2\u9023\u30eb\u30d3\u30f3\u30b9\u30bf\u30a4\u30f3\u30fb\u30c6\u30a4\u30d3\u75c7\u5019\u7fa4<\/strong>\uff08RSTS2\uff09<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>16\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0913.3\u9818\u57df\u3001\u307e\u305f\u306f22\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0913.2\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u30eb\u30d3\u30f3\u30b9\u30bf\u30a4\u30f3\u30fb\u30c6\u30a4\u30d3\u75c7\u5019\u7fa4\u306f\u3001\u4e3b\u306b2\u3064\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>16p13.3\u9818\u57df\uff08RSTS1\uff09\uff1a<\/strong> \u5168\u75c7\u4f8b\u306e\u7d0450\u301c60\uff05\u3092\u5360\u3081\u307e\u3059\u3002\u3053\u306e\u9818\u57df\u306b\u3042\u308b\u300cCREBBP\u907a\u4f1d\u5b50\u300d\u306e\u5909\u7570\u3001\u307e\u305f\u306f\u9818\u57df\u5168\u4f53\u306e<strong>\u5fae\u5c0f<\/strong>\u6b20\u5931\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>22q13.2\u9818\u57df\uff08RSTS2\uff09\uff1a<\/strong> \u5168\u75c7\u4f8b\u306e\u7d045\u301c8\uff05\u3092\u5360\u3081\u307e\u3059\u3002\u3053\u306e\u9818\u57df\u306b\u3042\u308b\u300cEP300\u907a\u4f1d\u5b50\u300d\u306e\u5909\u7570\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002EP300\u5909\u7570\u306b\u3088\u308b\u30bf\u30a4\u30d7\u306f\u3001CREBBP\u5909\u7570\u4f53\u306b\u6bd4\u3079\u3066\u8eab\u4f53\u7684\u7279\u5fb4\u304c\u30de\u30a4\u30eb\u30c9\u3067\u3001\u77e5\u7684\u969c\u5bb3\u3082\u8efd\u5ea6\u3067\u3042\u308b\u50be\u5411\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u3010\u75c5\u614b\u30e1\u30ab\u30cb\u30ba\u30e0\uff1a\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30af\u30b9\u306e\u7570\u5e38\u3011<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u304c\u4f5c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\uff08CBP\u304a\u3088\u3073p300\uff09\u306f\u3001\u300c\u30d2\u30b9\u30c8\u30f3\u30a2\u30bb\u30c1\u30eb\u57fa\u8ee2\u79fb\u9175\u7d20\u300d\u3068\u3057\u3066\u306e\u50cd\u304d\u3092\u6301\u3061\u307e\u3059\u3002\u3053\u308c\u306fDNA\u306e\u300c\u5dfb\u304d\u4ed8\u304d\u300d\u3092\u7de9\u3081\u3001\u591a\u304f\u306e\u907a\u4f1d\u5b50\u304c\u9069\u5207\u306b\u8aad\u307f\u53d6\u3089\u308c\u308b\u3088\u3046\u306b\u8abf\u7bc0\u3059\u308b\u300c\u30de\u30b9\u30bf\u30fc\u30fb\u30b9\u30a4\u30c3\u30c1\u300d\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u30b9\u30a4\u30c3\u30c1\u304c\u6545\u969c\u3059\u308b\u3053\u3068\u3067\u3001\u80ce\u5150\u671f\u304b\u3089\u51fa\u751f\u5f8c\u306e\u767a\u9054\u306b\u81f3\u308b\u307e\u3067\u3001\u5168\u8eab\u306e\u591a\u69d8\u306a\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u306b\u4e71\u308c\u304c\u751f\u3058\u3001\u8907\u96d1\u306a\u81e8\u5e8a\u50cf\u3092\u5448\u3059\u308b\u3053\u3068\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>100,000\u4eba \u301c 125,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e0c\u5c11\u6027:<\/strong> \u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3059\u304c\u3001\u7279\u5fb4\u7684\u306a\u8eab\u4f53\u6240\u898b\uff08\u89aa\u6307\u306e\u5e45\u5e83\u3055\u306a\u3069\uff09\u304c\u3042\u308b\u305f\u3081\u3001\u6bd4\u8f03\u7684\u8a3a\u65ad\u304c\u3064\u304d\u3084\u3059\u3044\u75be\u60a3\u3067\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee:<\/strong> \u7537\u5973\u3067\u306e\u767a\u751f\u983b\u5ea6\u306b\u6709\u610f\u306a\u5dee\u306f\u306a\u304f\u3001\u4eba\u7a2e\u3092\u554f\u308f\u305a\u4e16\u754c\u4e2d\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u65e5\u672c\u3067\u306e\u72b6\u6cc1:<\/strong> \u65e5\u672c\u56fd\u5185\u306b\u304a\u3044\u3066\u3082\u6b63\u78ba\u306a\u7d71\u8a08\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u6307\u5b9a\u96e3\u75c5\uff08\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u306a\u3069\uff09\u306e\u5bfe\u8c61\u3068\u306a\u3063\u3066\u304a\u308a\u3001\u5c02\u9580\u5916\u6765\u3067\u306e\u7ba1\u7406\u304c\u884c\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>RSTS\u306e\u75c7\u72b6\u306f\u3001\u9854\u8c8c\u3001\u56db\u80a2\u306e\u5f62\u614b\u3001\u6210\u9577\u3001\u77e5\u7684\u767a\u9054\u306a\u3069\u5168\u8eab\u306b\u53ca\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Facial Features\uff09<\/strong><\/p>\n\n\n\n<p>\u6210\u9577\u3068\u3068\u3082\u306b\u7279\u5fb4\u304c\u3088\u308a\u660e\u78ba\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6fc3\u3044\u7709\u6bdb\u3068\u9577\u3044\u307e\u3064\u6bdb:<\/strong> \u975e\u5e38\u306b\u5370\u8c61\u7684\u306a\u76ee\u5143\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u77bc\u88c2\u659c\u4e0b:<\/strong> \u76ee\u5c3b\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\uff08\u30bf\u30ec\u76ee\uff09\u3002<\/li>\n\n\n\n<li><strong>\u5185\u7725\uff08\u306a\u3044\u3057\uff09\u8d05\u76ae:<\/strong> \u76ee\u982d\u306e\u76ae\u819a\u304c\u88ab\u3055\u3063\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u5634\u72b6\uff08\u304f\u3061\u3070\u3057\u72b6\uff09\u306e\u9f3b:<\/strong> \u9f3b\u4e2d\u9694\uff08\u9f3b\u306e\u7a74\u3092\u9694\u3066\u308b\u58c1\uff09\u304c\u4e0b\u65b9\u306b\u7a81\u51fa\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9ad8\u53e3\u84cb\u30fb\u5c0f\u3055\u306a\u4e0b\u984e:<\/strong> \u53e3\u306e\u4e2d\u306e\u5929\u4e95\u304c\u9ad8\u304f\u3001\u984e\u304c\u5c0f\u3055\u3044\u305f\u3081\u3001\u6b6f\u4e26\u3073\u306e\u6df7\u96d1\uff08\u53e2\u751f\uff09\u304c\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u72ec\u7279\u306a\u7b11\u9854:<\/strong> \u7b11\u3063\u305f\u6642\u306b\u76ee\u304c\u7d30\u304f\u306a\u308a\u3001\u72ec\u7279\u306e\u611b\u5b0c\u306e\u3042\u308b\u8868\u60c5\u3092\u898b\u305b\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u624b\u8db3\u306e\u7279\u5fb4\uff08\u3082\u3063\u3068\u3082\u91cd\u8981\u306a\u8a3a\u65ad\u57fa\u6e96\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e45\u5e83\u304f\u5e73\u5766\u306a\u89aa\u6307\u30fb\u6bcd\u8dbe\uff08\u8db3\u306e\u89aa\u6307\uff09:<\/strong> \u5148\u7aef\u304c\u592a\u304f\u3001\u3078\u3089\u306e\u3088\u3046\u306a\u5f62\u3092\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6307\u306e\u5f2f\u66f2:<\/strong> \u89aa\u6307\u3084\u6bcd\u8dbe\u304c\u5916\u5074\u307e\u305f\u306f\u5185\u5074\u306b\u66f2\u304c\u3063\u3066\u3044\u308b\uff08\u6a48\u5074\u504f\u4f4d\uff09\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u672b\u7bc0\u9aa8\u306e\u5e45\u5e83\u3055:<\/strong> \u30ec\u30f3\u30c8\u30b2\u30f3\u691c\u67fb\u3067\u3001\u6307\u306e\u5148\u7aef\u306e\u9aa8\u304c\u5e45\u5e83\u304f\u306a\u3063\u3066\u3044\u308b\u306e\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u77e5\u7684\u969c\u5bb3\u304a\u3088\u3073\u884c\u52d5\u306e\u7279\u6027<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3:<\/strong> IQ\u306f\u5e73\u5747\u3057\u306630\u301c50\u7a0b\u5ea6\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u500b\u4eba\u5dee\u304c\u975e\u5e38\u306b\u5927\u304d\u304f\u3001\u8efd\u5ea6\u304b\u3089\u6700\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c:<\/strong> \u904b\u52d5\u767a\u9054\u306b\u6bd4\u3079\u3066\u3082\u3001\u8a00\u8449\u306e\u8868\u51fa\uff08\u8a71\u3059\u3053\u3068\uff09\u306b\u5f37\u3044\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u793e\u4ea4\u7684\u306a\u6027\u683c:<\/strong> \u5e7c\u5c11\u671f\u306f\u975e\u5e38\u306b\u4eba\u61d0\u3063\u3053\u304f\u3001\u793e\u4ea4\u7684\u306a\u6027\u683c\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u601d\u6625\u671f\u4ee5\u964d\u306b\u4e0d\u5b89\u611f\u3084\u6c17\u5206\u306e\u5909\u52d5\u3001\u5f37\u8feb\u7684\u306a\u884c\u52d5\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u6210\u9577\u3068\u5168\u8eab\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u969c\u5bb3:<\/strong> \u51fa\u751f\u6642\u306f\u6a19\u6e96\u7684\u3067\u3082\u3001\u305d\u306e\u5f8c\u306e\u8eab\u9577\u30fb\u4f53\u91cd\u306e\u5897\u52a0\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308a\u3001\u6700\u7d42\u7684\u306a\u6210\u4eba\u8eab\u9577\u306f\u4f4e\u3081\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08\u7d0430%\uff09:<\/strong> \u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\u3001\u52d5\u8108\u7ba1\u958b\u5b58\u75c7\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u7684\u7570\u5e38:<\/strong> \u659c\u8996\u3001\u5c48\u6298\u7570\u5e38\u3001\u767d\u5185\u969c\u3001\u9f3b\u6d99\u7ba1\u9589\u585e\uff08\u6d99\u304c\u51fa\u3084\u3059\u3044\uff09\u3002<\/li>\n\n\n\n<li><strong>\u6ccc\u5c3f\u751f\u6b96\u5668:<\/strong> \u7537\u5150\u306b\u304a\u3051\u308b\u505c\u7559\u7cbe\u5de3\u3002<\/li>\n\n\n\n<li><strong>\u76ae\u819a\u75c5\u5909:<\/strong> \u30b1\u30ed\u30a4\u30c9\uff08\u50b7\u8de1\u304c\u76db\u308a\u4e0a\u304c\u308a\u3084\u3059\u3044\uff09\u3092\u4f5c\u308a\u3084\u3059\u3044\u6027\u8cea\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u816b\u760d\u306e\u30ea\u30b9\u30af:<\/strong> \u975e\u5e38\u306b\u7a00\u3067\u3059\u304c\u3001\u9ac4\u819c\u816b\u3084\u767d\u8840\u75c5\u306a\u3069\u306e\u826f\u6027\u30fb\u60aa\u6027\u816b\u760d\u306e\u767a\u751f\u30ea\u30b9\u30af\u304c\u4e00\u822c\u3088\u308a\u308f\u305a\u304b\u306b\u9ad8\u3044\u53ef\u80fd\u6027\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>CREBBP\u907a\u4f1d\u5b50\u307e\u305f\u306fEP300\u907a\u4f1d\u5b50\u306e\u7570\u5e38\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u5f62\u5f0f\uff09<\/strong><\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08De novo mutation\uff09\uff1a\u7d0499%\u4ee5\u4e0a<br>\u307b\u3068\u3093\u3069\u3059\u3079\u3066\u306e\u75c7\u4f8b\u306b\u304a\u3044\u3066\u3001\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u306e\u77ac\u9593\u306b\u5076\u7136\u306b\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3001\u307e\u305f\u306f\u5fae\u5c0f\u6b20\u5931\u304c\u751f\u3058\u305f\u3082\u306e\u3067\u3059\u3002\u3053\u308c\u306f\u300c\u8ab0\u306e\u305b\u3044\u3067\u3082\u306a\u3044\u300d\u5076\u7136\u306e\u51fa\u6765\u4e8b\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d:<br>\u7406\u8ad6\u7684\u306b\u306f\u3001RSTS\u3092\u6301\u3064\u65b9\u304c\u5b50\u4f9b\u3092\u6388\u304b\u3063\u305f\u5834\u5408\u300150\uff05\u306e\u78ba\u7387\u3067\u907a\u4f1d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30e2\u30b6\u30a4\u30af:<br>\u7a00\u306b\u89aa\u304c\u81ea\u899a\u75c7\u72b6\u306e\u306a\u3044\u300c\u30e2\u30b6\u30a4\u30af\u4fdd\u56e0\u8005\uff08\u4f53\u306e\u4e00\u90e8\u306b\u3060\u3051\u5909\u7570\u7d30\u80de\u304c\u3042\u308b\uff09\u300d\u3067\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u3001\u305d\u306e\u5834\u5408\u306f\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u304c1%\u7a0b\u5ea6\u5b58\u5728\u3057\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u81e8\u5e8a\u8a3a\u65ad\uff08\u8eab\u4f53\u7684\u7279\u5fb4\u306b\u3088\u308b\u8a3a\u65ad\uff09\u304c\u5148\u884c\u3057\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u8a3a\u65ad\u57fa\u6e96:<\/strong> \u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u5e45\u5e83\u306e\u89aa\u6307\u30fb\u6bcd\u8dbe\u3001\u77e5\u7684\u969c\u5bb3\u306e3\u3064\u304c\u63c3\u3046\u5834\u5408\u3001\u5f37\u304f\u7591\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb \/ \u5168\u5916\u9855\u5b50\u89e3\u6790\uff08WES\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>CREBBP\u907a\u4f1d\u5b50\u304a\u3088\u3073EP300\u907a\u4f1d\u5b50<\/strong>\u306e\u5869\u57fa\u914d\u5217\u306e\u5909\u5316\uff08\u70b9\u7a81\u7136\u5909\u7570\uff09\u3092\u8abf\u3079\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<br>16p13.3\u9818\u57df\u5168\u4f53\u306e\u5fae\u5c0f\u6b20\u5931\u3092\u691c\u51fa\u3057\u307e\u3059\u3002\u5927\u304d\u306a\u6b20\u5931\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u3088\u308a\u91cd\u7be4\u306a\u75c7\u72b6\u3084\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>FISH\u6cd5:<\/strong> 16p13.3\u306e\u6b20\u5931\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u7528\u3044\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u73fe\u4ee3\u306e\u533b\u5b66\u306b\u304a\u3044\u3066\u3001\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u3092\u4fee\u6b63\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6cbb\u7642\u306f\u3001\u591a\u7cfb\u7d71\u306e\u5408\u4f75\u75c7\u3092\u7ba1\u7406\u3057\u3001\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b**\u300c\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5bfe\u75c7\u7642\u6cd5\u300d**\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5916\u79d1\u7684\u30fb\u6574\u5f62\u5916\u79d1\u7684\u4ecb\u5165<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6307\u306e\u624b\u8853:<\/strong> \u89aa\u6307\u3084\u6bcd\u8dbe\u306e\u5f2f\u66f2\u304c\u5f37\u304f\u3001\u7269\u3092\u63b4\u3080\u3053\u3068\u3084\u6b69\u884c\u306b\u652f\u969c\u304c\u3042\u308b\u5834\u5408\u3001\u4f4d\u7f6e\u3092\u6574\u3048\u308b\u624b\u8853\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u81d3\u624b\u8853:<\/strong> \u91cd\u7be4\u306a\u5148\u5929\u6027\u5fc3\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u3001\u4e73\u5e7c\u5150\u671f\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9f3b\u6d99\u7ba1\u958b\u653e\u8853:<\/strong> \u6d99\u76ee\u304c\u3072\u3069\u3044\u5834\u5408\u3001\u901a\u308a\u9053\u3092\u5e83\u3052\u308b\u51e6\u7f6e\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u9054\u652f\u63f4\u30fb\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u4ecb\u5165:<\/strong> \u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09\u3092\u7d44\u307f\u5408\u308f\u305b\u3001\u904b\u52d5\u30fb\u8a8d\u77e5\u30fb\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u306e\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4:<\/strong> \u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u30b5\u30a4\u30f3\u3084\u7d75\u30ab\u30fc\u30c9\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u306a\u3069\u306e\u4ee3\u66ff\u624b\u6bb5\u3092\u65e9\u671f\u304b\u3089\u5c0e\u5165\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5185\u79d1\u7684\u30fb\u773c\u79d1\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1\u5b9a\u671f\u53d7\u8a3a:<\/strong> \u659c\u8996\u3084\u8996\u529b\u4f4e\u4e0b\u3001\u767d\u5185\u969c\u306e\u65e9\u671f\u767a\u898b\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u7ba1\u7406:<\/strong> \u6b6f\u4e26\u3073\u304c\u975e\u5e38\u306b\u4e71\u308c\u3084\u3059\u3044\u305f\u3081\u3001\u65e9\u671f\u304b\u3089\u306e\u30d6\u30e9\u30c3\u30b7\u30f3\u30b0\u6307\u5c0e\u3084\u77ef\u6b63\u76f8\u8ac7\u3002<\/li>\n\n\n\n<li><strong>\u30b1\u30ed\u30a4\u30c9\u5bfe\u7b56:<\/strong> \u624b\u8853\u6642\u3084\u602a\u6211\u306e\u969b\u3001\u30b1\u30ed\u30a4\u30c9\u304c\u3067\u304d\u3084\u3059\u3044\u305f\u3081\u3001\u76ae\u819a\u79d1\u7684\u306a\u914d\u616e\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5fc3\u7406\u7684\u30fb\u793e\u4f1a\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5bb6\u65cf\u4f1a\uff08\u30eb\u30d3\u30f3\u30b9\u30bf\u30a4\u30f3\u30fb\u30c6\u30a4\u30d3\u75c7\u5019\u7fa4\u89aa\u306e\u4f1a\u306a\u3069\uff09\u3078\u306e\u53c2\u52a0\u3092\u901a\u3058\u305f\u60c5\u5831\u5171\u6709\u3002<\/li>\n\n\n\n<li>\u601d\u6625\u671f\u4ee5\u964d\u306e\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9\uff08\u4e0d\u5b89\u3084\u5f37\u8feb\u75c7\u72b6\uff09\u3078\u306e\u7cbe\u795e\u533b\u5b66\u7684\u30b5\u30dd\u30fc\u30c8\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u751f\u5b58\u671f\u9593:<\/strong> \u91cd\u7be4\u306a\u5fc3\u75be\u60a3\u3084\u60aa\u6027\u816b\u760d\u306e\u5408\u4f75\u304c\u306a\u3051\u308c\u3070\u3001\u5bff\u547d\u305d\u306e\u3082\u306e\u306f\u4e00\u822c\u306e\u65b9\u3068\u307b\u307c\u540c\u7b49\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u7acb\u5ea6:<\/strong> \u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u3088\u308a\u307e\u3059\u304c\u3001\u6210\u4eba\u5f8c\u306f\u5c31\u52b4\u652f\u63f4\u3084\u30b0\u30eb\u30fc\u30d7\u30db\u30fc\u30e0\u306a\u3069\u306e\u793e\u4f1a\u8cc7\u6e90\u3092\u5229\u7528\u3057\u306a\u304c\u3089\u3001\u8c4a\u304b\u306a\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u52a0\u9f62\u306b\u4f34\u3046\u5909\u5316:<\/strong> \u52a0\u9f62\u3068\u3068\u3082\u306b\u80a5\u6e80\u306b\u306a\u308a\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308b\u305f\u3081\u3001\u6210\u4eba\u671f\u4ee5\u964d\u306e\u98df\u4e8b\u7ba1\u7406\u3068\u9069\u5ea6\u306a\u904b\u52d5\u304c\u91cd\u8981\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>Rubinstein-Taybi syndrome\uff08\u30eb\u30d3\u30f3\u30b9\u30bf\u30a4\u30f3\u30fb\u30c6\u30a4\u30d3\u75c7\u5019\u7fa4\uff09\u306f\u300116\u756a\u307e\u305f\u306f22\u756a\u67d3\u8272\u4f53\u306b\u3042\u308b\u3001\u591a\u304f\u306e\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u8abf\u6574\u3059\u308b\u300c\u30de\u30b9\u30bf\u30fc\u30fb\u30b9\u30a4\u30c3\u30c1\u300d\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u6301\u3064\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u89aa\u6307\u3084\u8db3\u306e\u6307\u304c\u5e45\u5e83\u304f\u3001\u5c11\u3057\u66f2\u304c\u3063\u3066\u3044\u308b\u300d\u300c\u3068\u3066\u3082\u5370\u8c61\u7684\u3067\u30c1\u30e3\u30fc\u30df\u30f3\u30b0\u306a\u76ee\u5143\u300d\u300c\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u300d\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u3092\u6301\u3064\u304a\u5b50\u69d8\u305f\u3061\u306f\u3001\u975e\u5e38\u306b\u793e\u4ea4\u7684\u3067\u7b11\u9854\u304c\u7d20\u6575\u306a\u3053\u3068\u304c\u591a\u304f\u3001\u5468\u56f2\u3092\u548c\u307e\u305b\u3066\u304f\u308c\u308b\u529b\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u969b\u3001\u3054\u5bb6\u65cf\u306f\u5c06\u6765\u3078\u306e\u4e0d\u5b89\u3092\u611f\u3058\u3089\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u73fe\u5728\u306f\u591a\u304f\u306e\u5c02\u9580\u533b\uff08\u5c0f\u5150\u79d1\u3001\u6574\u5f62\u5916\u79d1\u3001\u773c\u79d1\u3001\u6b6f\u79d1\u3001\u30ea\u30cf\u30d3\u30ea\u79d1\uff09\u304c\u9023\u643a\u3057\u3001\u304a\u5b50\u69d8\u4e00\u4eba\u3072\u3068\u308a\u306b\u5408\u308f\u305b\u305f\u30b5\u30dd\u30fc\u30c8\u4f53\u5236\u3092\u6574\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u8a00\u8449\u306e\u9045\u308c\u3084\u8eab\u4f53\u7684\u306a\u5408\u4f75\u75c7\u306b\u5bfe\u3057\u3066\u3001\u65e9\u671f\u304b\u3089\u9069\u5207\u306a\u652f\u63f4\u3092\u59cb\u3081\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u306e\u6301\u3064\u53ef\u80fd\u6027\u3092\u5927\u304d\u304f\u5e83\u3052\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u5c02\u9580\u533b\u306e\u30c1\u30fc\u30e0\u3068\u5171\u306b\u3001\u304a\u5b50\u69d8\u306e\u6b69\u307f\u3092\u898b\u5b88\u308a\u306a\u304c\u3089\u3001\u4e00\u3064\u3072\u3068\u3064\u306e\u6210\u9577\u3092\u5927\u5207\u306b\u652f\u3048\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Rubinstein, J. H., &amp; Taybi, H.<\/strong> (1963). <em>Broad thumbs and toes and facial abnormalities: a possible mental retardation syndrome.<\/em> American Journal of Diseases of Children.\n<ul class=\"wp-block-list\">\n<li>\uff08\u672c\u75c7\u5019\u7fa4\u3092\u521d\u3081\u3066\u5b9a\u7fa9\u3057\u305f\u6b74\u53f2\u7684\u306a\u539f\u8457\u8ad6\u6587\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Petrij, F., et al.<\/strong> (1995). <em>Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP.<\/em> Nature.\n<ul class=\"wp-block-list\">\n<li>\uff08\u539f\u56e0\u907a\u4f1d\u5b50CREBBP\u304c\u540c\u5b9a\u3055\u308c\u305f\u969b\u306e\u8a18\u5ff5\u7891\u7684\u306a\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Roelfsema, J. H., et al.<\/strong> (2005). <em>Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in EP300 are a rare cause of RSTS.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u7b2c\u4e8c\u306e\u539f\u56e0\u907a\u4f1d\u5b50EP300\u306e\u95a2\u4e0e\u3092\u660e\u3089\u304b\u306b\u3057\u305f\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Rubinstein-Taybi Syndrome<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u6700\u65b0\u306e\u533b\u5b66\u7684\u77e5\u898b\u3001\u8a3a\u65ad\u3001\u7ba1\u7406\u6307\u91dd\u304c\u7db2\u7f85\u3055\u308c\u3066\u3044\u308b\u4e16\u754c\u7684\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>Rubinstein-Taybi syndrome: A guide for families<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u3001\u3054\u5bb6\u65cf\u5411\u3051\u306e\u5b9f\u8df5\u7684\u304b\u3064\u6e29\u304b\u307f\u306e\u3042\u308b\u30ac\u30a4\u30c9\u8cc7\u6599\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u65e5\u672c\u5c0f\u5150\u79d1\u5b66\u4f1a \/ \u65e5\u672c\u81e8\u5e8a\u907a\u4f1d\u5b66\u4f1a<\/strong>: <em>\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5 \u8a3a\u7642\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u65e5\u672c\u56fd\u5185\u306b\u304a\u3051\u308b\u6700\u65b0\u306e\u8a3a\u7642\u6307\u91dd\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Stevens, C. A., et al.<\/strong> (1990). <em>Rubinstein-Taybi syndrome: A natural history study.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u672c\u75c7\u5019\u7fa4\u306e\u81ea\u7136\u7d4c\u904e\u3001\u52a0\u9f62\u306b\u4f34\u3046\u5909\u5316\u3092\u8a73\u7d30\u306b\u8abf\u67fb\u3057\u305f\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-17443","genetic-screening","type-genetic-screening","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17443","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/genetic-screening"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17443\/revisions"}],"predecessor-version":[{"id":17445,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17443\/revisions\/17445"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17443"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}