{"id":16950,"date":"2026-01-21T02:55:27","date_gmt":"2026-01-21T02:55:27","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16950"},"modified":"2026-01-21T02:56:09","modified_gmt":"2026-01-21T02:56:09","slug":"2p12-p11-2-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/2p12-p11-2-deletion-syndrome\/","title":{"rendered":"2p12-p11.2 deletion 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>2p12-p11.2\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>2p12-p11.2\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff082p12-p11.2 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>2p12-p11.2\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 2p12-p11.2\uff09<\/li>\n\n\n\n<li>\u8fd1\u4f4d2p\u6b20\u5931\u75c7\u5019\u7fa4\uff08Proximal 2p deletion syndrome\uff09<\/li>\n\n\n\n<li>CTNNA2\u95a2\u9023\u75c7\u5019\u7fa4\uff08CTNNA2-related syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u6b20\u5931\u306b\u542b\u307e\u308c\u308b\u4e3b\u8981\u306a\u8cac\u4efb\u907a\u4f1d\u5b50\u306e\u540d\u524d\u3092\u7528\u3044\u3066\u3053\u3046\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u76ae\u8cea\u7570\u5f62\u6210\uff08Cortical dysplasia\uff09 \/ \u8133\u56de\u7570\u5e38<\/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>2\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0912\u304b\u308911.2\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e2\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306e\u4ed8\u3051\u6839\uff08\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\uff09\u306b\u8fd1\u3044\u300c12\u300d\u304b\u3089\u300c11.2\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\uff08\u30b3\u30d4\u30fc\u6570\u304c1\u3064\u306b\u306a\u308b\uff1a\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u91cd\u8981\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>2\u756a\u67d3\u8272\u4f53\u306f2\u756a\u76ee\u306b\u5927\u304d\u3044\u67d3\u8272\u4f53\u3067\u3059\u304c\u3001\u3053\u306e\u300cp12-p11.2\u300d\u3068\u3044\u3046\u9818\u57df\u306e\u6b20\u5931\u5831\u544a\u306f\u7a00\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6b20\u5931\u306e\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u6570\u767e\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u304b\u3089\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u3044\u304f\u3064\u304b\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u7684\u306a\u795e\u7d4c\u75c7\u72b6\uff08\u77e5\u7684\u969c\u5bb3\u3084\u8133\u5f62\u6210\u7570\u5e38\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059**\u300c\u8cac\u4efb\u907a\u4f1d\u5b50\u300d**\u3068\u3057\u3066\u3001\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>CTNNA2 (Catenin Alpha 2):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u91cd\u8981\u306e\u8cac\u4efb\u907a\u4f1d\u5b50<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\uff08\u30cb\u30e5\u30fc\u30ed\u30f3\uff09\u306b\u591a\u304f\u767a\u73fe\u3057\u3066\u3044\u308b\u300c\u03b1-N-\u30ab\u30c6\u30cb\u30f3\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f79\u5272:<\/strong> \u795e\u7d4c\u7d30\u80de\u540c\u58eb\u306e\u63a5\u7740\u3084\u3001\u7d30\u80de\u306e\u9aa8\u7d44\u307f\uff08\u7d30\u80de\u9aa8\u683c\uff09\u306e\u5236\u5fa1\u306b\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u3001\u80ce\u5150\u671f\u306e\u8133\u304c\u4f5c\u3089\u308c\u308b\u969b\u3001\u795e\u7d4c\u7d30\u80de\u304c\u6b63\u3057\u3044\u5834\u6240\u3078\u79fb\u52d5\u3059\u308b\uff08\u795e\u7d4c\u7d30\u80de\u904a\u8d70\uff09\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f71\u97ff:<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3059\u308b\u3068\u3001\u795e\u7d4c\u7d30\u80de\u304c\u3046\u307e\u304f\u79fb\u52d5\u3067\u304d\u305a\u3001\u8133\u306e\u8868\u9762\u306e\u30b7\u30ef\uff08\u8133\u56de\uff09\u304c\u539a\u304f\u306a\u3063\u305f\u308a\uff08\u539a\u8133\u56de\uff09\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u77e5\u7684\u969c\u5bb3\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>LRIF1 (Ligand Dependent Nuclear Receptor Interacting Factor 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u907a\u4f1d\u5b50\u767a\u73fe\u306e\u8abf\u7bc0\u306b\u95a2\u308f\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u4e0d\u5168\u306f\u3001\u9854\u9762\u80a9\u7532\u4e0a\u8155\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08FSHD\uff09\u306b\u95a2\u9023\u3059\u308b\u30e1\u30ab\u30cb\u30ba\u30e0\uff08SMCHD1\u306e\u6291\u5236\u306a\u3069\uff09\u306b\u95a2\u4e0e\u3059\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u672c\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308b\u81e8\u5e8a\u7684\u610f\u7fa9\uff08\u767a\u9054\u9045\u6ede\u306a\u3069\uff09\u3078\u306e\u5bc4\u4e0e\u5ea6\u306f\u3001CTNNA2\u306b\u6bd4\u3079\u308b\u3068\u526f\u6b21\u7684\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>REEP1 (Receptor Accessory Protein 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u3044\u5834\u5408\u306b\u542b\u307e\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u70b9\u5909\u7570\u3067\u306f\u300c\u907a\u4f1d\u6027\u75d9\u6027\u5bfe\u9ebb\u75fa\uff08HSP\uff09\u300d\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002\u6b20\u5931\u3057\u305f\u5834\u5408\u3001\u904b\u52d5\u6a5f\u80fd\uff08\u7279\u306b\u8db3\u306e\u3064\u3063\u3071\u308a\u306a\u3069\uff09\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u6975\u3081\u3066\u7a00\uff08Ultra-rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u306b\u304a\u3051\u308b\u8a73\u7d30\u306a\u75c7\u4f8b\u5831\u544a\u6570\u306f\u6570\u5341\u4f8b\u672a\u6e80\u3067\u3042\u308a\u3001\u975e\u5e38\u306b\u7a00\u306a\u67d3\u8272\u4f53\u7570\u5e38\u3067\u3059\u3002<\/p>\n\n\n\n<p>Orphanet\u306a\u3069\u306e\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3067\u3082\u3001\u767a\u751f\u983b\u5ea6\u306f\u300c\u4e0d\u660e\u300d\u307e\u305f\u306f\u300c&lt;1 \/ 1,000,000\u300d\u3068\u5206\u985e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u4ee5\u4e0b\u306e\u7406\u7531\u306b\u3088\u308b\u300c\u904e\u5c11\u8a3a\u65ad\u300d\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u7279\u7570\u7684\u306a\u5916\u898b\u304c\u5c11\u306a\u3044:<\/strong> \u30c0\u30a6\u30f3\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306a\u4e00\u898b\u3057\u3066\u308f\u304b\u308b\u9854\u8c8c\u306e\u7279\u5fb4\u304c\u5c11\u306a\u3044\u305f\u3081\u3001\u67d3\u8272\u4f53\u691c\u67fb\u304c\u884c\u308f\u308c\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u691c\u67fb\u6280\u8853\u306e\u9032\u6b69:<\/strong> \u5f93\u6765\u306eG\u30d0\u30f3\u30c9\u691c\u67fb\u3067\u306f\u898b\u9003\u3055\u308c\u308b\u5fae\u7d30\u306a\u6b20\u5931\u3067\u3042\u308b\u5834\u5408\u304c\u591a\u304f\u3001\u8fd1\u5e74\u306e\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u3084\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u306e\u666e\u53ca\u306b\u3088\u3063\u3066\u3001\u3088\u3046\u3084\u304f\u767a\u898b\u3055\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u65b0\u3057\u3044\u75be\u60a3\u5358\u4f4d\u3067\u3059\u3002<\/li>\n<\/ol>\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>2p12-p11.2 deletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u77e5\u7684\u969c\u5bb3\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u300c\u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7279\u5fb4\u300d\u300c\u8efd\u5ea6\u306e\u9854\u8c8c\u7570\u5e38\u300d**\u304c\u4e3b\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001CTNNA2\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u306b\u542b\u307e\u308c\u308b\u5834\u5408\u3001\u8133\u306e\u69cb\u9020\u7684\u306a\u5909\u5316\uff08MRI\u6240\u898b\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\u3067\u3001\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4e2d\u7b49\u5ea6\u4ee5\u4e0a\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u62bd\u8c61\u7684\u306a\u601d\u8003\u3084\u3001\u8907\u96d1\u306a\u8ab2\u984c\u306e\u89e3\u6c7a\u306b\u56f0\u96e3\u3092\u793a\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\uff08Speech delay\uff09\u304c\u9855\u8457\u3067\u3059\u3002<\/li>\n\n\n\n<li>2\u301c3\u6b73\u306b\u306a\u3063\u3066\u3082\u767a\u8a9e\u304c\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u5358\u8a9e\u306e\u307f\u3067\u3042\u308b\u30b1\u30fc\u30b9\u304c\u591a\u304f\u3001\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002\u53d7\u5bb9\u8a00\u8a9e\uff08\u7406\u89e3\uff09\u306f\u8868\u51fa\u8a00\u8a9e\uff08\u8a71\u3059\u3053\u3068\uff09\u3088\u308a\u826f\u597d\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u958b\u59cb\u306a\u3069\u306e\u904b\u52d5\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306f\u72ec\u6b69\uff08\u4e00\u4eba\u6b69\u304d\uff09\u3092\u7372\u5f97\u3057\u307e\u3059\u304c\u3001\u30d0\u30e9\u30f3\u30b9\u611f\u899a\u304c\u60aa\u304b\u3063\u305f\u308a\u3001\u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\uff08\u5fae\u7d30\u904b\u52d5\u969c\u5bb3\uff09\u304c\u6b8b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u8133\u306e\u69cb\u9020\u7570\u5e38\uff08Brain malformations\uff09<\/strong><\/p>\n\n\n\n<p><em>CTNNA2<\/em>\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u306b\u95a2\u9023\u3057\u3066\u3001\u8133\u306e\u5f62\u6210\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u76ae\u8cea\u5f62\u6210\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u8868\u9762\uff08\u76ae\u8cea\uff09\u306e\u5c64\u69cb\u9020\u304c\u4e71\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u539a\u8133\u56de\uff08Pachygyria\uff09 \/ \u6ed1\u8133\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u30b7\u30ef\u304c\u5c11\u306a\u304f\u3001\u539a\u304f\u306a\u3063\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002\u3053\u308c\u306f\u795e\u7d4c\u7d30\u80de\u304c\u79fb\u52d5\u3092\u9014\u4e2d\u3067\u6b62\u3081\u3066\u3057\u307e\u3063\u305f\u3053\u3068\u3092\u793a\u5506\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001MRI\u3067\u660e\u3089\u304b\u306a\u7570\u5e38\u304c\u898b\u3089\u308c\u306a\u3044\uff08\u6b63\u5e38\u306b\u898b\u3048\u308b\uff09\u60a3\u8005\u3055\u3093\u3082\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7279\u6027<\/strong><\/p>\n\n\n\n<p>\u767a\u9054\u306e\u9045\u308c\u306b\u52a0\u3048\u3001\u884c\u52d5\u9762\u3067\u306e\u7279\u5fb4\u304c\u751f\u6d3b\u4e0a\u306e\u8ab2\u984c\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u793e\u4f1a\u7684\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u82e6\u624b\u3055\u3001\u8996\u7dda\u304c\u5408\u3044\u306b\u304f\u3044\u3001\u3053\u3060\u308f\u308a\u304c\u5f37\u3044\u3001\u611f\u899a\u904e\u654f\u3068\u3044\u3063\u305fASD\u7279\u6027\u3092\u6301\u3064\u983b\u5ea6\u304c\u9ad8\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u843d\u3061\u7740\u304d\u306e\u306a\u3055\u3001\u885d\u52d5\u6027\u3001\u6ce8\u610f\u6563\u6f2b\u306a\u3069\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e0d\u5b89\u306e\u5f37\u3055\u3001\u304b\u3093\u3057\u3083\u304f\uff08Meltdown\uff09\u3001\u7761\u7720\u969c\u5bb3\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u300c\u7279\u5fb4\u7684\u300d\u3068\u306f\u8a00\u308f\u308c\u307e\u3059\u304c\u3001\u975e\u5e38\u306b\u8efd\u5fae\u3067\u3001\u3054\u5bb6\u65cf\u306b\u4f3c\u3066\u3044\u308b\u7bc4\u56f2\u5185\u3067\u3042\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9ad8\u3044\u524d\u982d\u90e8\uff08\u304a\u3067\u3053\u304c\u5e83\u3044\uff09\u3002<\/li>\n\n\n\n<li>\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li>\u773c\u77bc\u88c2\u659c\u4e0b\uff08\u30bf\u30ec\u76ee\uff09\u3001\u307e\u305f\u306f\u659c\u4e0a\uff08\u3064\u308a\u76ee\uff09\u3002<\/li>\n\n\n\n<li>\u9f3b\u6839\u90e8\u304c\u5e83\u3044\u3001\u9f3b\u5148\u304c\u4e38\u3044\u3002<\/li>\n\n\n\n<li>\u8584\u3044\u4e0a\u5507\u3001\u53e3\u89d2\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u306e\u5f62\u306e\u5909\u5f62\u3002<\/li>\n\n\n\n<li>\u5c0f\u982d\u75c7\uff08\u982d\u304c\u5c0f\u3055\u3044\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u795e\u7d4c\u30fb\u7b4b\u9aa8\u683c\u7cfb\u306e\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5e7c\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u59ff\u52e2\u4fdd\u6301\u304c\u56f0\u96e3\u306a\u72b6\u614b\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u75d9\u7e2e\uff08Spasticity\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6210\u9577\u3068\u3068\u3082\u306b\u3001\u8db3\u306e\u7b4b\u8089\u304c\u7a81\u3063\u5f35\u308b\uff08\u75d9\u6027\uff09\u306a\u3069\u306e\u75c7\u72b6\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08<em>REEP1<\/em>\u907a\u4f1d\u5b50\u306e\u95a2\u4e0e\u306e\u53ef\u80fd\u6027\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u659c\u8996\u3001\u9060\u8996\u3001\u4e71\u8996\u3001\u5f31\u8996\u306a\u3069\u306e\u8996\u899a\u7684\u554f\u984c\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>6. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<p>\u5185\u81d3\u5947\u5f62\u306e\u5408\u4f75\u7387\u306f\u6bd4\u8f03\u7684\u4f4e\u3044\u3067\u3059\u304c\u3001\u4ee5\u4e0b\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u505c\u7559\u7cbe\u5de3\uff08\u7537\u5150\uff09\u3002<\/li>\n\n\n\n<li>\u5074\u5f2f\u75c7\u3002<\/li>\n\n\n\n<li>\u3066\u3093\u304b\u3093\u767a\u4f5c\uff08\u8133\u5f62\u6210\u7570\u5e38\u304c\u3042\u308b\u5834\u5408\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308a\u307e\u3059\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>2\u756a\u67d3\u8272\u4f53\u77ed\u8155\u8fd1\u4f4d\uff082p12-p11.2\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u907a\u4f1d\u5b50\u30cf\u30d7\u30ed\u4e0d\u5168\u3068\u795e\u7d4c\u7d30\u80de\u904a\u8d70<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u672c\u8cea\u7684\u306a\u539f\u56e0\u306f\u3001<strong>CTNNA2\u907a\u4f1d\u5b50<\/strong>\u306a\u3069\u306e\u91cf\u304c\u534a\u5206\u306b\u306a\u308b\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b63\u5e38\u306a\u8133\u306e\u767a\u9054:<\/strong> \u80ce\u5150\u671f\u306b\u8133\u304c\u4f5c\u3089\u308c\u308b\u969b\u3001\u795e\u7d4c\u7d30\u80de\u306f\u8133\u306e\u5965\u6df1\u304f\u3067\u751f\u307e\u308c\u3001\u8868\u9762\uff08\u76ae\u8cea\uff09\u306b\u5411\u304b\u3063\u3066\u9577\u3044\u65c5\uff08\u904a\u8d70\uff09\u3092\u3057\u307e\u3059\u3002\u3053\u306e\u6642\u3001\u7d30\u80de\u306e\u9aa8\u7d44\u307f\uff08\u30a2\u30af\u30c1\u30f3\u9aa8\u683c\uff09\u3092\u5909\u5316\u3055\u305b\u306a\u304c\u3089\u52d5\u304f\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong> <em>CTNNA2<\/em>\u304c\u4f5c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u3053\u306e\u7d30\u80de\u9aa8\u683c\u306e\u5236\u5fa1\u306b\u91cd\u8981\u3067\u3059\u3002\u3053\u308c\u304c\u4e0d\u8db3\u3059\u308b\u3068\u3001\u795e\u7d4c\u7d30\u80de\u304c\u3046\u307e\u304f\u52d5\u3051\u305a\u3001\u9014\u4e2d\u3067\u6b62\u307e\u3063\u3066\u3057\u307e\u3063\u305f\u308a\u3001\u914d\u7f6e\u304c\u4e71\u308c\u305f\u308a\u3057\u307e\u3059\u3002\u3053\u308c\u304c\u77e5\u7684\u969c\u5bb3\u3084\u539a\u8133\u56de\u306a\u3069\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u751f\u6a5f\u5e8f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>2p12-p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306e<strong>\u5927\u591a\u6570<\/strong>\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\uff08\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6642\u3001\u307e\u305f\u306f\u53d7\u7cbe\u76f4\u5f8c\uff09\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306e\u5e74\u9f62\u3084\u751f\u6d3b\u7fd2\u6163\u306a\u3069\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u975e\u5e38\u306b\u4f4e\u3044\uff081%\u672a\u6e80\uff09\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u907a\u4f1d\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u540c\u3058\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u308b\u30b1\u30fc\u30b9\u306f\u975e\u5e38\u306b\u7a00\u3067\u3059\u304c\u3001\u5831\u544a\u304c\u306a\u3044\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\uff09\u300d\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3001\u5b50\u306b\u4e0d\u5747\u8861\u306a\u6b20\u5931\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u7279\u5fb4\u7684\u306a\u5916\u898b\u304c\u4e4f\u3057\u3044\u305f\u3081\u3001\u81e8\u5e8a\u75c7\u72b6\u3060\u3051\u3067\u8a3a\u65ad\u3059\u308b\u3053\u3068\u306f\u56f0\u96e3\u3067\u3059\u3002\u300c\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u300d\u3084\u300c\u81ea\u9589\u75c7\u300d\u3068\u3057\u3066\u691c\u67fb\u304c\u9032\u3081\u3089\u308c\u308b\u4e2d\u3067\u767a\u898b\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b**\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff08\u7b2c\u4e00\u9078\u629e\uff09**\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>2p12-p11.2\u9818\u57df\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u6b20\u5931\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\u3068\u3001<em>CTNNA2<\/em>\u907a\u4f1d\u5b50\u306a\u3069\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u982d\u90e8MRI\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u9045\u6ede\u306e\u539f\u56e0\u7cbe\u67fb\u3068\u3057\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u306e\u30b7\u30ef\u306e\u72b6\u614b\uff08\u539a\u8133\u56de\u3084\u591a\u5c0f\u8133\u56de\u306a\u3069\uff09\u3084\u3001\u767d\u8cea\u306e\u72b6\u614b\u3092\u78ba\u8a8d\u3057\u3001<em>CTNNA2<\/em>\u95a2\u9023\u306e\u8133\u5f62\u6210\u7570\u5e38\u304c\u306a\u3044\u304b\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u6b20\u5931\u3067\u306f\u306a\u304f\u3001<em>CTNNA2<\/em>\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u306e\u70b9\u5909\u7570\u3067\u3082\u985e\u4f3c\u306e\u75c7\u72b6\u304c\u51fa\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u30ec\u30d9\u30eb\u306e\u89e3\u6790\u3067\u898b\u3064\u304b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6b20\u5931\u3057\u305f\u67d3\u8272\u4f53\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u304a\u5b50\u3055\u3093\u306e\u6301\u3063\u3066\u3044\u308b\u80fd\u529b\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\u305f\u3081\u306e\u7642\u80b2\u7684\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4\uff08Habilitation\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u53ef\u5851\u6027\uff08\u5909\u5316\u3059\u308b\u529b\uff09\u304c\u9ad8\u3044\u4e73\u5e7c\u5150\u671f\u304b\u3089\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u767a\u8a9e\u304c\u96e3\u3057\u3044\u5834\u5408\u3001\u7d75\u30ab\u30fc\u30c9\u3001\u30b5\u30a4\u30f3\u3001AAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09\u30c4\u30fc\u30eb\u3092\u6d3b\u7528\u3057\u3001\u610f\u601d\u4f1d\u9054\u306e\u624b\u6bb5\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u304b\u3093\u3057\u3083\u304f\u7b49\u306e\u884c\u52d5\u9762\u306e\u554f\u984c\u304c\u8efd\u6e1b\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\u3084\u611f\u899a\u904e\u654f\u306b\u5bfe\u3057\u3001\u904a\u3073\u3092\u901a\u3058\u305f\u30a2\u30d7\u30ed\u30fc\u30c1\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30bd\u30fc\u30b7\u30e3\u30eb\u30b9\u30ad\u30eb\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\uff08SST\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u81ea\u9589\u50be\u5411\u304c\u3042\u308b\u5834\u5408\u3001\u96c6\u56e3\u751f\u6d3b\u306e\u30eb\u30fc\u30eb\u3084\u5bfe\u4eba\u95a2\u4fc2\u306e\u30b9\u30ad\u30eb\u3092\u5b66\u3073\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6559\u80b2\u74b0\u5883\u306e\u8abf\u6574<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u500b\u5225\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u5408\u308f\u305b\u3001\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u3084\u7279\u5225\u652f\u63f4\u5b66\u6821\u306a\u3069\u3001\u500b\u5225\u306b\u9069\u3057\u305f\u6559\u80b2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8996\u899a\u7684\u306a\u652f\u63f4\uff08\u898b\u3066\u308f\u304b\u308b\u30b9\u30b1\u30b8\u30e5\u30fc\u30eb\u306a\u3069\uff09\u3084\u3001\u523a\u6fc0\u306e\u5c11\u306a\u3044\u74b0\u5883\u8a2d\u5b9a\u304c\u6709\u52b9\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u533b\u5b66\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u30fb\u6574\u5f62\u5916\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u659c\u8996\u3084\u810a\u67f1\u5074\u5f2f\u75c7\u306a\u3069\u304c\u306a\u3044\u304b\u3001\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u3092\u884c\u3044\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u88c5\u5177\u7642\u6cd5\u306a\u3069\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u672c\u75be\u60a3\u306f\u975e\u5e38\u306b\u7a00\u3067\u3042\u308b\u305f\u3081\u3001\u60c5\u5831\u306e\u5c11\u306a\u3055\u304c\u3054\u5bb6\u65cf\u306e\u4e0d\u5b89\u306b\u3064\u306a\u304c\u308a\u3084\u3059\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u304b\u3089\u3001\u75be\u60a3\u306e\u7279\u6027\u3001\u5c06\u6765\u306e\u898b\u901a\u3057\u3001\u6b21\u5b50\u306e\u518d\u767a\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u6b63\u78ba\u306a\u8aac\u660e\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u672a\u8a3a\u65ad\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u53ef\u80fd\u6027\uff08\u5bb6\u65cf\u6027\uff09\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u3001\u4e21\u89aa\u306e\u691c\u67fb\u3092\u691c\u8a0e\u3059\u308b\u5834\u5408\u3082\u3042\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>2p12-p11.2 deletion syndrome\u306f\u30012\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u3001\u7279\u306b\u8133\u306e\u795e\u7d4c\u7d30\u80de\u304c\u79fb\u52d5\u3059\u308b\u305f\u3081\u306b\u5fc5\u8981\u306aCTNNA2\u907a\u4f1d\u5b50\u306a\u3069\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u8a00\u8449\u304c\u306a\u304b\u306a\u304b\u51fa\u306a\u3044\u300d\u300c\u904b\u52d5\u304c\u3086\u3063\u304f\u308a\u300d\u300c\u3053\u3060\u308f\u308a\u304c\u5f37\u3044\u300d\u3068\u3044\u3063\u305f\u75c7\u72b6\u3067\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u8133\u306eMRI\u691c\u67fb\u3067\u7279\u5fb4\u7684\u306a\u6240\u898b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u3055\u308c\u305f\u5f53\u521d\u306f\u3001\u300c\u8133\u306e\u5f62\u6210\u7570\u5e38\u300d\u3068\u3044\u3046\u8a00\u8449\u306b\u30b7\u30e7\u30c3\u30af\u3092\u53d7\u3051\u3089\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u3053\u308c\u306f\u75c5\u6c17\u304c\u9032\u884c\u3059\u308b\u3068\u3044\u3046\u610f\u5473\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u8133\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u65b0\u3057\u3044\u56de\u8def\u3092\u4f5c\u308a\u3001\u5b66\u7fd2\u3057\u3066\u3044\u304f\u529b\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u52b9\u85ac\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\uff08\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09\u3084\u3001\u304a\u5b50\u3055\u3093\u306e\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u6559\u80b2\u74b0\u5883\u3092\u6574\u3048\u308b\u3053\u3068\u304c\u3001\u6700\u5927\u306e\u6cbb\u7642\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8449\u3067\u306e\u8868\u73fe\u304c\u82e6\u624b\u3067\u3082\u3001\u304a\u5b50\u3055\u3093\u306f\u8c4a\u304b\u306a\u611f\u60c5\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u65b9\u6cd5\u3092\u5de5\u592b\u3057\u3001\u5468\u56f2\u304c\u7406\u89e3\u8005\u3068\u306a\u308b\u3053\u3068\u3067\u3001\u305d\u306e\u5b50\u3089\u3057\u3044\u6210\u9577\u3092\u652f\u3048\u3066\u3044\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u7642\u3001\u6559\u80b2\u3001\u798f\u7949\u306e\u5c02\u9580\u5bb6\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u6b69\u307f\u3092\u6e29\u304b\u304f\u898b\u5b88\u3063\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Rolland, A.S., et al.<\/strong> (2014). <em>Phenotypic severity of pachygyria mechanisms associated with CTNNA2 deletions.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b2p12-p11.2\u6b20\u5931\u3092\u6301\u3064\u60a3\u8005\u306b\u304a\u3051\u308b\u8133\u56de\u7570\u5e38\uff08\u539a\u8133\u56de\uff09\u3068\u3001CTNNA2\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u7bc4\u56f2\u3068\u306e\u95a2\u9023\u3092\u8a73\u7d30\u306b\u89e3\u6790\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002CTNNA2\u304c\u795e\u7d4c\u7d30\u80de\u904a\u8d70\u306b\u4e0d\u53ef\u6b20\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u5506\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Schoch, K., et al.<\/strong> (2016). <em>Clinical and molecular characterization of a patient with a 2p11.2 deletion and a review of the literature.<\/em> American Journal of Medical Genetics Part A.\n<ul class=\"wp-block-list\">\n<li>(\u203b2p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u75c7\u4f8b\u5831\u544a\u3068\u6587\u732e\u30ec\u30d3\u30e5\u30fc\u3002\u77e5\u7684\u969c\u5bb3\u3001\u767a\u9054\u9045\u6ede\u3001\u8efd\u5ea6\u306e\u9854\u8c8c\u7570\u5e38\u306a\u3069\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3092\u307e\u3068\u3081\u3066\u3044\u308b\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Mencarelli, M.A., et al.<\/strong> (2011). <em>A 2p11.2-p12 deletion in a child with intellectual disability and pachygyria.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u77e5\u7684\u969c\u5bb3\u3068\u539a\u8133\u56de\u3092\u6301\u3064\u5c0f\u5150\u306e\u75c7\u4f8b\u5831\u544a\u3002CTNNA2\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u8133\u5f62\u6210\u7570\u5e38\u306e\u4e3b\u8981\u306a\u539f\u56e0\u3067\u3042\u308b\u3068\u7d50\u8ad6\u4ed8\u3051\u3066\u3044\u308b\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Deciphering Developmental Disorders Study<\/strong>: <em>Genotype-phenotype data for 2p12 deletions.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5927\u898f\u6a21\u306a\u907a\u4f1d\u5b66\u7684\u7814\u7a76\u30c7\u30fc\u30bf\u306b\u304a\u3044\u3066\u3001\u3053\u306e\u9818\u57df\u306e\u6b20\u5931\u304c\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u306e\u30ea\u30b9\u30af\u56e0\u5b50\u3068\u3057\u3066\u540c\u5b9a\u3055\u308c\u3066\u3044\u308b\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>CTNNA2<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203bCTNNA2\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff08\u6b20\u5931\uff09\u304c\u75be\u60a3\uff08\u7279\u306b\u77e5\u7684\u969c\u5bb3\u3084\u8133\u5947\u5f62\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u306e\u79d1\u5b66\u7684\u6839\u62e0\u8a55\u4fa1\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>2p deletions<\/em> (2020).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u30012\u756a\u67d3\u8272\u4f53\u77ed\u8155\u6b20\u5931\u5168\u822c\u306e\u75c7\u72b6\u3084\u751f\u6d3b\u4e0a\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u3092\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002\u8fd1\u4f4d\u6b20\u5931\u306b\u3064\u3044\u3066\u306e\u8a00\u53ca\u3042\u308a\u3002)<\/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-16950","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\/16950","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\/16950\/revisions"}],"predecessor-version":[{"id":16952,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16950\/revisions\/16952"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16950"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}