{"id":16736,"date":"2026-01-20T01:15:18","date_gmt":"2026-01-20T01:15:18","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16736"},"modified":"2026-01-20T01:15:18","modified_gmt":"2026-01-20T01:15:18","slug":"17q11-2-duplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/17q11-2-duplication-syndrome\/","title":{"rendered":"17q11.2 duplication 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>17q11.2\u91cd\u8907\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>NF1\u9818\u57df\u91cd\u8907\u75c7\u5019\u7fa4\uff08NF1 region duplication syndrome\uff09<\/li>\n\n\n\n<li>17q11.2\u5fae\u7d30\u91cd\u8907\u75c7\u5019\u7fa4\uff0817q11.2 microduplication syndrome\uff09<\/li>\n\n\n\n<li>\u90e8\u5206\u7684\u30c8\u30ea\u30bd\u30df\u30fc17q11.2\uff08Partial trisomy 17q11.2\uff09<\/li>\n\n\n\n<li>\u30b0\u30ea\u30f3\u30ac\u30eb\u30c6\u30f3\u30fb\u30af\u30e9\u30c3\u30c4\u75c7\u5019\u7fa4\uff08Gryngarten-Kratz syndrome\uff09\u203b\u7a00\u306a\u547c\u79f0<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u795e\u7d4c\u7dda\u7dad\u816b\u75c71\u578b\uff08NF1\uff09\u203b\u672c\u75be\u60a3\u306fNF1\u306e\u300c\u9006\uff08Reciprocal\uff09\u300d\u306e\u67d3\u8272\u4f53\u7570\u5e38\u3067\u3059\u3002<\/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>17\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0911.2\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e17\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306b\u3042\u308b\u300c11.2\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u91cd\u8907\uff08\u30b3\u30d4\u30fc\u6570\u304c\u901a\u5e38\u306e2\u672c\u304b\u30893\u672c\u306b\u5897\u52a0\uff09\u3059\u308b\u3053\u3068\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\u6027\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306f\u3001\u907a\u4f1d\u6027\u75be\u60a3\u306e\u4e2d\u3067\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u3044\u3082\u306e\u306e\u4e00\u3064\u3067\u3042\u308b\u300c\u795e\u7d4c\u7dda\u7dad\u816b\u75c71\u578b\uff08NF1 \/ \u30ec\u30c3\u30af\u30ea\u30f3\u30b0\u30cf\u30a6\u30bc\u30f3\u75c5\uff09\u300d\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3001NF1\u907a\u4f1d\u5b50\u304c\u5b58\u5728\u3059\u308b\u5834\u6240\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b20\u5931\uff08Deletion\uff09:<\/strong> \u3053\u306e\u9818\u57df\u304c\u6b20\u5931\u3059\u308b\u3068\u3001\u300cNF1\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u306a\u308a\u3001\u91cd\u5ea6\u306eNF1\u75c7\u72b6\uff08\u816b\u760d\u3001\u30ab\u30d5\u30a7\u30fb\u30aa\u30fb\u30ec\u6591\u3001\u904e\u6210\u9577\u306a\u3069\uff09\u304c\u73fe\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u8907\uff08Duplication\uff09:<\/strong> \u672c\u75be\u60a3\u306f\u3053\u306e\u300c\u9006\u300d\u306e\u72b6\u614b\u3067\u3059\u3002\u540c\u3058\u9818\u57df\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u3001NF1\u3068\u306f\u5bfe\u7167\u7684\u306a\u3001\u3042\u308b\u3044\u306f\u5168\u304f\u7570\u306a\u308b\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3010\u91cd\u8907\u306e\u30bf\u30a4\u30d7\u3011<\/p>\n\n\n\n<p>\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u540c\u69d8\u306b\u3001\u91cd\u8907\u3059\u308b\u7bc4\u56f2\u306e\u30b5\u30a4\u30ba\u306b\u3088\u3063\u3066\u3044\u304f\u3064\u304b\u306e\u30bf\u30a4\u30d7\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u6700\u3082\u4e00\u822c\u7684\u306a\u306e\u306f\u7d041.4\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u306e\u91cd\u8907\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u7bc4\u56f2\u306b\u306f\u3001NF1\u907a\u4f1d\u5b50\u306b\u52a0\u3048\u3001RNF135\u3001SUZ12\u3001OMG\u306a\u3069\u3001\u7d0415\u500b\u4ee5\u4e0a\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u304c\u307e\u3068\u3081\u3066\u904e\u5270\u306b\u306a\u308b\uff08\u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3\uff09\u3053\u3068\u3067\u75c7\u72b6\u304c\u5f62\u6210\u3055\u308c\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>\u7a00\uff08Rare\uff09<\/strong><\/p>\n\n\n\n<p>\u795e\u7d4c\u7dda\u7dad\u816b\u75c71\u578b\uff08NF1\uff09\u3084NF1\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u6bd4\u3079\u308b\u3068\u3001\u5831\u544a\u6570\u306f\u975e\u5e38\u306b\u5c11\u306a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u4e00\u822c\u96c6\u56e3\u306b\u304a\u3051\u308b\u983b\u5ea6\u306f\u6570\u4e07\u4eba\u306b1\u4eba\u3001\u3042\u308b\u3044\u306f\u305d\u308c\u4ee5\u4e0b\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u672c\u75be\u60a3\u306e\u75c7\u72b6\uff08\u77e5\u7684\u969c\u5bb3\u3084\u767a\u9054\u9045\u6ede\uff09\u306f\u4ed6\u306e\u75be\u60a3\u3067\u3082\u3088\u304f\u898b\u3089\u308c\u308b\u3082\u306e\u3067\u3042\u308a\u3001\u304b\u3064NF1\u306e\u3088\u3046\u306b\u76ae\u819a\u306b\u76ee\u7acb\u3064\u7279\u5fb4\uff08\u3042\u3056\u3084\u816b\u760d\uff09\u304c\u51fa\u306a\u3044\u305f\u3081\u3001\u8a3a\u65ad\u306b\u81f3\u3063\u3066\u3044\u306a\u3044\uff08\u904e\u5c11\u8a3a\u65ad\u3055\u308c\u3066\u3044\u308b\uff09\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u306e\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u539f\u56e0\u4e0d\u660e\u306e\u77e5\u7684\u969c\u5bb3\u3084\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u306e\u60a3\u8005\u3055\u3093\u306e\u4e2d\u304b\u3089\u767a\u898b\u3055\u308c\u308b\u30b1\u30fc\u30b9\u304c\u5897\u52a0\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\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>17q11.2\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u50cf\u306f\u3001\u300c\u77e5\u7684\u969c\u5bb3\u300d\u300c\u884c\u52d5\u7279\u6027\uff08ASD\uff09\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u306e3\u3064\u304c\u4e3b\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u8981\u306a\u70b9\u3068\u3057\u3066\u3001\u540c\u3058\u9818\u57df\u306e\u7570\u5e38\u3067\u3042\u308a\u306a\u304c\u3089\u3001NF1\uff08\u6b20\u5931\/\u5909\u7570\uff09\u3067\u898b\u3089\u308c\u308b\u3088\u3046\u306a\u300c\u795e\u7d4c\u7dda\u7dad\u816b\uff08\u816b\u760d\uff09\u300d\u3084\u300c\u30ab\u30d5\u30a7\u30fb\u30aa\u30fb\u30ec\u6591\uff08\u3042\u3056\uff09\u300d\u306f\u3001\u901a\u5e38\u898b\u3089\u308c\u306a\u3044\u304b\u3001\u3042\u3063\u3066\u3082\u7a00\u3067\u3042\u308b\u3068\u3044\u3046\u3053\u3068\u3067\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\u3066\u306e\u60a3\u8005\u3055\u3093\u306b\u304a\u3044\u3066\u3001\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\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>IQ\u30b9\u30b3\u30a2\u306f\u5e45\u5e83\u304f\u5206\u5e03\u3057\u307e\u3059\u304c\u3001\u5e73\u5747\u3059\u308b\u3068\u8efd\u5ea6\u306e\u4f4e\u4e0b\uff08IQ 70\u524d\u5f8c\uff09\u304c\u898b\u3089\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u306f\u6bd4\u8f03\u7684\u7a00\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\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\u3001\u53d7\u8a3a\u306e\u304d\u3063\u304b\u3051\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u904b\u52d5\u767a\u9054\uff08\u6b69\u884c\u958b\u59cb\u306a\u3069\uff09\u306e\u9045\u308c\u3082\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u7372\u5f97\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5b66\u7fd2\u969c\u5bb3\uff08LD\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u304c\u8efd\u5ea6\u3067\u3042\u3063\u3066\u3082\u3001\u8aad\u307f\u66f8\u304d\u3084\u8a08\u7b97\u306a\u3069\u306b\u7279\u7570\u7684\u306a\u56f0\u96e3\u3055\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7279\u6027<\/strong><\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u304c\u65e5\u5e38\u751f\u6d3b\u3067\u6700\u3082\u76f4\u9762\u3059\u308b\u8ab2\u984c\u306e\u4e00\u3064\u3067\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>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306b\u304a\u3044\u3066\u3001\u793e\u4f1a\u7684\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u56f0\u96e3\u3055\u3084\u3001\u8208\u5473\u306e\u9650\u5c40\u3001\u3053\u3060\u308f\u308a\u3068\u3044\u3063\u305fASD\u306e\u7279\u6027\u304c\u898b\u3089\u308c\u307e\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>\u4e0d\u6ce8\u610f\u3001\u591a\u52d5\u6027\u3001\u885d\u52d5\u6027\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u5b66\u9f62\u671f\u306b\u304a\u3051\u308b\u5b66\u7fd2\u3084\u96c6\u56e3\u751f\u6d3b\u306e\u59a8\u3052\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u884c\u52d5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e0d\u5b89\u969c\u5bb3\u3001\u5f37\u8feb\u7684\u884c\u52d5\u3001\u653b\u6483\u7684\u884c\u52d5\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>3. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u901a\u5e38\u306eNF1\u306b\u306f\u7279\u7570\u7684\u306a\u9854\u3064\u304d\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u3067\u306f\u5171\u901a\u3057\u305f\u9854\u8c8c\u306e\u7279\u5fb4\uff08Dysmorphism\uff09\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u3053\u308c\u3089\u306f\u5fae\u7d30\u306a\u3082\u306e\u3067\u3042\u308a\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5316\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9854\u306e\u5f62\u72b6:<\/strong> \u9762\u9577\uff08Long face\uff09\u3001\u9006\u4e09\u89d2\u5f62\u306e\u9854\u7acb\u3061\u3002<\/li>\n\n\n\n<li><strong>\u984d:<\/strong> \u524d\u982d\u90e8\u304c\u5e83\u304f\u3001\u7a81\u51fa\u3057\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u7709\u30fb\u76ee:<\/strong> \u7709\u6bdb\u304c\u6fc3\u3044\u3001\u7709\u304c\u5916\u5074\u3067\u4e0a\u304c\u3063\u3066\u3044\u308b\u3001\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3001\u773c\u77bc\u88c2\u659c\u4e0b\uff08\u30bf\u30ec\u76ee\uff09\u3001\u776b\u6bdb\u304c\u9577\u3044\u3002<\/li>\n\n\n\n<li><strong>\u9f3b:<\/strong> \u9f3b\u6839\u90e8\u304c\u592a\u3044\u3001\u9f3b\u5148\u304c\u76ee\u7acb\u3064\u3002<\/li>\n\n\n\n<li><strong>\u53e3\u5143:<\/strong> \u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\uff09\u304c\u77ed\u3044\u3001\u4e0a\u5507\u304c\u8584\u3044\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u306e\u7570\u5e38:<\/strong> \u6b6f\u4e26\u3073\u304c\u60aa\u3044\u3001\u6b20\u640d\u6b6f\u304c\u3042\u308b\u306a\u3069\u306e\u6b6f\u79d1\u7684\u554f\u984c\u304c\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u6210\u9577<\/strong><\/p>\n\n\n\n<p>NF1\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u304c\u300c\u904e\u6210\u9577\uff08\u9ad8\u8eab\u9577\uff09\u300d\u3092\u793a\u3059\u306e\u306b\u5bfe\u3057\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u3067\u306f\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8eab\u9577\uff08Short stature\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u6642\u306e\u4f53\u683c\u306f\u6b63\u5e38\u7bc4\u56f2\u5185\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u51fa\u751f\u5f8c\u306b\u6210\u9577\u7387\u304c\u4f4e\u4e0b\u3057\u3001\u4f4e\u8eab\u9577\uff08-2SD\u4ee5\u4e0b\uff09\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306f\u3001<em>RNF135<\/em>\u907a\u4f1d\u5b50\u306e\u904e\u5270\u767a\u73fe\u304c\u6210\u9577\u6291\u5236\u306b\u50cd\u3044\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\uff08\u6b20\u5931\u3059\u308b\u3068\u904e\u6210\u9577\u306b\u306a\u308b\u305f\u3081\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u982d\u56f2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09\u3084\u5927\u982d\u75c7\uff08Macrocephaly\uff09\u306e\u4e21\u65b9\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u6b63\u5e38\u7bc4\u56f2\u5185\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9aa8\u683c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u6307\u306e\u7570\u5e38\uff08\u6307\u304c\u7d30\u9577\u3044\u3001\u307e\u305f\u306f\u77ed\u3044\uff09\u3001\u95a2\u7bc0\u306e\u904e\u4f38\u5c55\uff08\u4f53\u304c\u67d4\u3089\u304b\u3044\uff09\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong> \u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u7a00\u3067\u3059\u304c\u3001\u5fc3\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069\u306e\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u76ae\u819a:<\/strong> NF1\u3068\u306f\u7570\u306a\u308a\u3001\u30ab\u30d5\u30a7\u30fb\u30aa\u30fb\u30ec\u6591\u306f\u3042\u3063\u3066\u3082\u6570\u500b\u7a0b\u5ea6\u3067\u3001\u8a3a\u65ad\u57fa\u6e96\u3092\u6e80\u305f\u3059\u307b\u3069\u591a\u767a\u3059\u308b\u3053\u3068\u306f\u7a00\u3067\u3059\u3002\u795e\u7d4c\u7dda\u7dad\u816b\uff08\u816b\u760d\uff09\u306e\u767a\u751f\u30ea\u30b9\u30af\u306f\u3001\u4e00\u822c\u96c6\u56e3\u3068\u540c\u7a0b\u5ea6\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>17\u756a\u67d3\u8272\u4f53\u9577\u8155\uff0817q11.2\uff09\u306b\u304a\u3051\u308b\u7d041.4Mb\u306e\u5fae\u7d30\u91cd\u8907<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f\uff1aNAHR\uff08\u975e\u30a2\u30ea\u30eb\u9593\u540c\u6e90\u7d44\u63db\u3048\uff09<\/strong><\/p>\n\n\n\n<p>\u306a\u305c\u3053\u306e\u9818\u57df\u3067\u91cd\u8907\u304c\u8d77\u3053\u308b\u306e\u3067\u3057\u3087\u3046\u304b\uff1f<\/p>\n\n\n\n<p>\u305d\u308c\u306f\u3001NF1\uff08\u6b20\u5931\uff09\u304c\u8d77\u3053\u308b\u30e1\u30ab\u30cb\u30ba\u30e0\u3068\u5168\u304f\u540c\u3058\u3067\u3059\u3002<\/p>\n\n\n\n<p>NF1\u907a\u4f1d\u5b50\u306e\u5468\u8fba\u306b\u306f\u3001\u300cNF1-REPs\u300d\u3068\u547c\u3070\u308c\u308b\u3001DNA\u914d\u5217\u304c\u4e92\u3044\u306b\u3088\u304f\u4f3c\u305f\u300c\u53cd\u5fa9\u914d\u5217\u300d\u304c\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6e1b\u6570\u5206\u88c2\u306e\u969b\u3001\u3053\u306e\u4f3c\u305f\u914d\u5217\u540c\u58eb\u304c\u8aa4\u3063\u3066\u30da\u30a2\u3092\u7d44\u307f\u3001\u67d3\u8272\u4f53\u306e\u7d44\u63db\u3048\uff08\u60c5\u5831\u306e\u4ea4\u63db\uff09\u304c\u8d77\u3053\u308b\u3068\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7d50\u679c\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7247\u65b9\u306e\u67d3\u8272\u4f53\uff1a\u9818\u57df\u304c\u629c\u3051\u843d\u3061\u308b \u2192 <strong>\u6b20\u5931\uff08NF1\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff09<\/strong><\/li>\n\n\n\n<li>\u3082\u3046\u7247\u65b9\u306e\u67d3\u8272\u4f53\uff1a\u9818\u57df\u304c\u500d\u306b\u306a\u308b \u2192 <strong>\u91cd\u8907\uff0817q11.2\u91cd\u8907\u75c7\u5019\u7fa4\uff09<\/strong><\/li>\n<\/ul>\n\n\n\n<p>\u3064\u307e\u308a\u3001\u672c\u75be\u60a3\u306fNF1\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u300c\u8868\u88cf\u4e00\u4f53\u300d\u306e\u95a2\u4fc2\u306b\u3042\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Gene Dosage Effect\uff09<\/strong><\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306f\u300c\u3042\u308c\u3070\u3042\u308b\u307b\u3069\u826f\u3044\u300d\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>NF1\u907a\u4f1d\u5b50\u306e\u904e\u5270:<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>NF1<\/em>\u306f\u7d30\u80de\u5897\u6b96\u3092\u6291\u3048\u308b\u30d6\u30ec\u30fc\u30ad\uff08\u304c\u3093\u6291\u5236\u907a\u4f1d\u5b50\uff09\u3067\u3059\u3002\u6b20\u5931\u3059\u308b\u3068\u30d6\u30ec\u30fc\u30ad\u304c\u52b9\u304b\u305a\u306b\u816b\u760d\u304c\u3067\u304d\u307e\u3059\u304c\u3001\u91cd\u8907\u3057\u3066\u30d6\u30ec\u30fc\u30ad\u304c\u5897\u3048\u3059\u304e\u308b\u3068\u3069\u3046\u306a\u308b\u304b\u306f\u5b8c\u5168\u306b\u306f\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u8133\u306e\u767a\u9054\u306b\u304a\u3044\u3066\u306f\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u904e\u5270\u306b\u306a\u308b\u3053\u3068\u3067\u795e\u7d4c\u56de\u8def\u306e\u5f62\u6210\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3001\u77e5\u7684\u969c\u5bb3\u3084ASD\u306e\u539f\u56e0\u306b\u306a\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>RNF135\u907a\u4f1d\u5b50\u306e\u904e\u5270:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u7d30\u80de\u306e\u6210\u9577\u5236\u5fa1\u306b\u95a2\u308f\u3063\u3066\u304a\u308a\u3001\u6b20\u5931\u3059\u308b\u3068\u904e\u6210\u9577\u306b\u306a\u308a\u307e\u3059\u304c\u3001\u91cd\u8907\u3059\u308b\u3068\u9006\u306b\u6210\u9577\u304c\u6291\u5236\u3055\u308c\u3001\u4f4e\u8eab\u9577\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u907a\u4f1d\u5f62\u5f0f<\/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>\u591a\u304f\u306e\u75c7\u4f8b\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\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>\u6bd4\u8f03\u7684\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u306e\u304c\u3001<strong>\u89aa\u304b\u3089\u306e\u907a\u4f1d<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u81ea\u8eab\u304c\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u3082\u306e\u306e\u3001\u75c7\u72b6\u304c\u8efd\u5ea6\uff08\u300c\u5c11\u3057\u52c9\u5f37\u304c\u82e6\u624b\u3060\u3063\u305f\u300d\u300c\u5c0f\u67c4\u3067\u3042\u308b\u300d\u7a0b\u5ea6\uff09\u3067\u3001\u8a3a\u65ad\u3055\u308c\u305a\u306b\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u5b50\u306b\u907a\u4f1d\u3059\u308b\u78ba\u7387\u306f50%\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\uff09\u3067\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>\u901a\u5e38\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u306f\u3001\u91cd\u8907\u304c\u5c0f\u3055\u3059\u304e\u3066\u691c\u51fa\u3067\u304d\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3067\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>\u30b2\u30ce\u30e0\u4e0a\u306e\u30b3\u30d4\u30fc\u6570\u5909\u5316\uff08CNV\uff09\u3092\u691c\u51fa\u3059\u308b\u73fe\u5728\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3067\u3059\u3002<\/li>\n\n\n\n<li>17q11.2\u9818\u57df\u306e\u30b3\u30d4\u30fc\u6570\u304c\u300c3\u300d\u306b\u306a\u3063\u3066\u3044\u308b\u3053\u3068\u3092\u78ba\u8a8d\u3057\u3001\u78ba\u5b9a\u8a3a\u65ad\u3068\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>FISH\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>NF1<\/em>\u9818\u57df\u3092\u30bf\u30fc\u30b2\u30c3\u30c8\u3068\u3057\u305f\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u308b\u3053\u3068\u3067\u3001\u91cd\u8907\u3092\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>MLPA\u6cd5:<\/strong><\/li>\n<\/ul>\n\n\n\n<p><em>NF1<\/em>\u907a\u4f1d\u5b50\u306e\u30b3\u30d4\u30fc\u6570\u89e3\u6790\u306b\u7279\u5316\u3057\u305f\u691c\u67fb\u3067\u3001\u6b20\u5931\u3060\u3051\u3067\u306a\u304f\u91cd\u8907\u3082\u691c\u51fa\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u904e\u5270\u306a\u67d3\u8272\u4f53\u9818\u57df\u3092\u53d6\u308a\u9664\u304f\u3088\u3046\u306a\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u304a\u5b50\u3055\u3093\u306e\u75c7\u72b6\u3084\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u7642\u80b2\u7684\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>NF1\uff08\u6b20\u5931\uff09\u306e\u3088\u3046\u306a\u816b\u760d\u306b\u5bfe\u3059\u308b\u53b3\u91cd\u306a\u76e3\u8996\u306f\u901a\u5e38\u5fc5\u8981\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u767a\u9054\u9762\u3067\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u30fb\u6559\u80b2\u7684\u652f\u63f4\uff08\u7642\u80b2\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>\u8a3a\u65ad\u5f8c\u3001\u65e9\u671f\u304b\u3089\u7642\u80b2\uff08Early Intervention\uff09\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u304c\u9855\u8457\u306a\u5834\u5408\u3001\u8a00\u8a9e\u8a13\u7df4\u3092\u884c\u3044\u307e\u3059\u3002\u8996\u899a\u7684\u306a\u652f\u63f4\uff08\u7d75\u30ab\u30fc\u30c9\u306a\u3069\uff09\u304c\u6709\u52b9\u306a\u5834\u5408\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\u304c\u3042\u308b\u5834\u5408\u3001\u904a\u3073\u3084\u4f5c\u696d\u3092\u901a\u3058\u3066\u9069\u5fdc\u529b\u3092\u9ad8\u3081\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SST\uff08\u30bd\u30fc\u30b7\u30e3\u30eb\u30b9\u30ad\u30eb\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>ASD\u7279\u6027\u304c\u3042\u308b\u5834\u5408\u3001\u96c6\u56e3\u751f\u6d3b\u3067\u306e\u30eb\u30fc\u30eb\u3084\u5bfe\u4eba\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>\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u3084ADHD\u7279\u6027\u306b\u5408\u308f\u305b\u3001\u901a\u7d1a\u6307\u5c0e\u6559\u5ba4\u3001\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u3001\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>\u96c6\u4e2d\u529b\u304c\u7d9a\u304b\u306a\u3044\u5834\u5408\u306f\u3001\u5ea7\u5e2d\u306e\u4f4d\u7f6e\u3092\u5de5\u592b\u3057\u305f\u308a\u3001\u8ab2\u984c\u3092\u7d30\u5206\u5316\u3057\u305f\u308a\u3059\u308b\u306a\u3069\u306e\u914d\u616e\u304c\u5b66\u7fd2\u3092\u52a9\u3051\u307e\u3059\u3002<\/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>\u5b9a\u671f\u691c\u8a3a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8eab\u4f53\u8a08\u6e2c\u3092\u884c\u3044\u3001\u6210\u9577\u66f2\u7dda\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u8457\u3057\u3044\u4f4e\u8eab\u9577\u304c\u3042\u308b\u5834\u5408\u306f\u5185\u5206\u6ccc\u79d1\u3067\u306e\u8a55\u4fa1\u3092\u691c\u8a0e\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b6f\u79d1\u691c\u8a3a\uff1a\u6b6f\u4e26\u3073\u306e\u554f\u984c\u304c\u591a\u3044\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u3068\u77ef\u6b63\u6cbb\u7642\u306e\u691c\u8a0e\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u5b66\u7684\u7ba1\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u8133\u6ce2\u691c\u67fb\u3092\u884c\u3044\u3001\u6cbb\u7642\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u79d1\u7684\u30b1\u30a2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e0d\u5b89\u3084\u30d1\u30cb\u30c3\u30af\u3001\u885d\u52d5\u6027\u304c\u5f37\u304f\u3001\u65e5\u5e38\u751f\u6d3b\u306b\u652f\u969c\u304c\u51fa\u308b\u5834\u5408\u306f\u3001\u85ac\u7269\u7642\u6cd5\u3092\u542b\u3081\u305f\u7cbe\u795e\u79d1\u7684\u30a2\u30d7\u30ed\u30fc\u30c1\u3092\u691c\u8a0e\u3057\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\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u4e21\u89aa\u306e\u691c\u67fb\u3092\u884c\u3046\u304b\u3069\u3046\u304b\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u305f\u5834\u5408\u3001\u89aa\u306e\u75c7\u72b6\uff08\u8efd\u5ea6\u3067\u3042\u308b\u3053\u3068\u306a\u3069\uff09\u304c\u3001\u304a\u5b50\u3055\u3093\u306e\u5c06\u6765\u3092\u4e88\u6e2c\u3059\u308b\u4e0a\u3067\u306e\u53c2\u8003\u60c5\u5831\u306b\u306a\u308b\u3053\u3068\u304c\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>17q11.2 duplication syndrome\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\uff08NF1\u907a\u4f1d\u5b50\u3092\u542b\u3080\u9818\u57df\uff09\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u5148\u5929\u6027\u306e\u4f53\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u795e\u7d4c\u7dda\u7dad\u816b\u75c71\u578b\uff08NF1\uff09\u300d\u306b\u95a2\u9023\u3059\u308b\u5834\u6240\u306e\u7570\u5e38\u3067\u3059\u304c\u3001\u816b\u760d\u304c\u3067\u304d\u3084\u3059\u3044NF1\u3068\u306f\u7570\u306a\u308a\u3001\u816b\u760d\u306e\u5fc3\u914d\u306f\u307b\u3068\u3093\u3069\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u4ee3\u308f\u308a\u3001\u8a00\u8449\u306e\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u3060\u3063\u305f\u308a\u3001\u3053\u3060\u308f\u308a\u304c\u5f37\u304b\u3063\u305f\u308a\u3068\u3044\u3063\u305f\u300c\u767a\u9054\u306e\u51f8\u51f9\u300d\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002\u307e\u305f\u3001\u5c11\u3057\u5c0f\u67c4\u3067\u3001\u611b\u3089\u3057\u3044\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u3092\u3057\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u4f53\u8cea\u3092\u6301\u3064\u304a\u5b50\u3055\u3093\u306f\u3001\u5f97\u610f\u306a\u3053\u3068\u3068\u82e6\u624b\u306a\u3053\u3068\u306e\u5dee\u304c\u5927\u304d\u3044\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u65e9\u671f\u304b\u3089\u305d\u306e\u5b50\u306e\u7279\u6027\u3092\u7406\u89e3\u3057\u3001\u9069\u5207\u306a\u7642\u80b2\u3084\u6559\u80b2\u74b0\u5883\u3092\u6574\u3048\u308b\u3053\u3068\u3067\u3001\u7740\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306f\u3001\u816b\u760d\u3078\u306e\u904e\u5ea6\u306a\u5fc3\u914d\u3092\u3059\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u767a\u9054\u306e\u7279\u6027\u306b\u5bc4\u308a\u6dfb\u3044\u3001\u9577\u3044\u76ee\u3067\u6210\u9577\u3092\u898b\u5b88\u3063\u3066\u3044\u304f\u30b5\u30dd\u30fc\u30c8\u304c\u5927\u5207\u3067\u3059\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>Gryngarten, D., et al.<\/strong> (2020). <em>17q11.2 Microduplication Syndrome: Clinical and Molecular Characterization of 13 Patients.<\/em> Frontiers in Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b13\u540d\u306e\u60a3\u8005\u30c7\u30fc\u30bf\u3092\u8a73\u7d30\u306b\u89e3\u6790\u3057\u3001\u77e5\u7684\u969c\u5bb3\u3001ASD\u3001\u7279\u5fb4\u7684\u9854\u8c8c\u306a\u3069\u306e\u81e8\u5e8a\u50cf\u3092\u307e\u3068\u3081\u305f\u3001\u6bd4\u8f03\u7684\u65b0\u3057\u304f\u5305\u62ec\u7684\u306a\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Kehrer-Sawatzki, H., et al.<\/strong> (2008). <em>Genotype-phenotype correlation in patients with 17q11.2 microduplication.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u907a\u4f1d\u5b50\u578b\u3068\u8868\u73fe\u578b\u306e\u76f8\u95a2\u306b\u3064\u3044\u3066\u8003\u5bdf\u3057\u305f\u57fa\u790e\u7684\u306a\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Salgado, C.M., et al.<\/strong> (2018). <em>17q11.2 microduplication syndrome: A new case and review of the literature.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u75c7\u4f8b\u5831\u544a\u3068\u904e\u53bb\u306e\u6587\u732e\u30ec\u30d3\u30e5\u30fc\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Engman, M.L., et al.<\/strong> (2014). <em>The 17q11.2 microduplication syndrome: A distinct clinical entity.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u672c\u75be\u60a3\u304cNF1\u3068\u306f\u7570\u306a\u308b\u72ec\u81ea\u306e\u81e8\u5e8a\u5358\u4f4d\u3067\u3042\u308b\u3053\u3068\u3092\u5b9a\u7fa9\u3065\u3051\u305f\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>NF1<\/em> (Triplosensitivity score: 1 &#8211; Little evidence for dosage pathogenicity by itself), <em>RNF135<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203bNF1\u907a\u4f1d\u5b50\u5358\u72ec\u306e\u91cd\u8907\u3088\u308a\u3082\u3001\u9818\u57df\u5168\u4f53\u306e\u91cd\u8907\u306b\u3088\u308b\u8907\u5408\u7684\u306a\u5f71\u97ff\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b\u8a55\u4fa1\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>17q11.2 microduplications<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306e\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\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-16736","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\/16736","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":1,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16736\/revisions"}],"predecessor-version":[{"id":16737,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16736\/revisions\/16737"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16736"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}