{"id":16784,"date":"2026-01-20T03:21:28","date_gmt":"2026-01-20T03:21:28","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16784"},"modified":"2026-01-20T05:44:01","modified_gmt":"2026-01-20T05:44:01","slug":"17q22-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/17q22-deletion-syndrome\/","title":{"rendered":"17q22 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>17q22\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>17q22\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff0817q22 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>NOG\u95a2\u902317q22\u6b20\u5931\u75c7\u5019\u7fa4\uff08NOG-related 17q22 deletion syndrome\uff09<\/li>\n\n\n\n<li>17q22\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 17q22\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u8fd1\u4f4d\u6307\u7bc0\u9593\u95a2\u7bc0\u7652\u5408\u75c7\uff08Proximal symphalangism; SYM1\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u591a\u767a\u6027\u9aa8\u7652\u5408\u75c7\u75c7\u5019\u7fa4\uff08Multiple synostoses syndrome 1; SYNS1\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u75be\u60a3\u306e\u4f4d\u7f6e\u3065\u3051\u306b\u3064\u3044\u3066\uff1a<\/p>\n\n\n\n<p>17q22\u9818\u57df\u306b\u306f\u3001\u9aa8\u3084\u95a2\u7bc0\u306e\u5f62\u6210\u306b\u6c7a\u5b9a\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3059NOG\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3084\u6b20\u5931\u306f\u3001\u6307\u306e\u95a2\u7bc0\u304c\u7652\u5408\u3057\u3066\u66f2\u304c\u3089\u306a\u304f\u306a\u308b\u300c\u30b7\u30f3\u30d5\u30a1\u30e9\u30f3\u30b8\u30ba\u30e0\uff08\u6307\u7bc0\u7652\u5408\u75c7\uff09\u300d\u306a\u3069\u306e\u9aa8\u7cfb\u7d71\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c17q22 deletion syndrome\u300d\u306f\u3001\u3053\u306eNOG\u907a\u4f1d\u5b50\u3092\u542b\u3080\u67d3\u8272\u4f53\u9818\u57df\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u3001\u9aa8\u30fb\u95a2\u7bc0\u306e\u75c7\u72b6\u306b\u52a0\u3048\u3001\u6b20\u5931\u7bc4\u56f2\u306b\u3088\u3063\u3066\u306f\u767a\u9054\u306e\u9045\u308c\u306a\u3069\u3092\u4f75\u767a\u3059\u308b\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d\u3068\u3057\u3066\u6271\u308f\u308c\u307e\u3059\u3002<\/p>\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\uff0922\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\u300c22\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\u8cac\u4efb\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>\u6b20\u5931\u306e\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\uff08\u6570\u767ekb\u301c\u6570Mb\uff09\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u6700\u3082\u7279\u5fb4\u7684\u306a\u75c7\u72b6\uff08\u9aa8\u30fb\u95a2\u7bc0\u30fb\u8074\u899a\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u306e\u306f\u3001\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>NOG (Noggin):<\/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><em>NOG<\/em>\u907a\u4f1d\u5b50\u304c\u4f5c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u300c\u30ce\u30ae\u30f3\uff08Noggin\uff09\u300d\u306f\u3001**BMP\uff08\u9aa8\u5f62\u6210\u56e0\u5b50\uff09**\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u50cd\u304d\u3092\u9069\u5ea6\u306b\u6291\u3048\u308b\u30d6\u30ec\u30fc\u30ad\u306e\u5f79\u5272\u3092\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u901a\u5e38\u3001\u80ce\u5150\u306e\u624b\u8db3\u304c\u4f5c\u3089\u308c\u308b\u969b\u3001\u95a2\u7bc0\u306b\u306a\u308b\u90e8\u5206\u306f\u7d30\u80de\u304c\u6b7b\u6ec5\u3057\u3066\u9699\u9593\uff08\u95a2\u7bc0\u8154\uff09\u304c\u3067\u304d\u307e\u3059\u304c\u3001\u3053\u308c\u306b\u306fBMP\u30b7\u30b0\u30ca\u30eb\u306e\u9069\u5207\u306a\u6291\u5236\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><em>NOG<\/em>\u304c\u6b20\u5931\u3057\u3066\u30d6\u30ec\u30fc\u30ad\u304c\u52b9\u304b\u306a\u304f\u306a\u308b\u3068\u3001BMP\u304c\u904e\u5270\u306b\u50cd\u304d\u3001\u672c\u6765\u95a2\u7bc0\u306b\u306a\u308b\u3079\u304d\u5834\u6240\u3082\u9aa8\u306b\u306a\u3063\u3066\u3064\u306a\u304c\u3063\u3066\u3057\u307e\u3044\u307e\u3059\uff08\u9aa8\u7652\u5408\uff09\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u3067\u3042\u308b\u300c\u6307\u306e\u95a2\u7bc0\u304c\u66f2\u304c\u3089\u306a\u3044\u300d\u300c\u8033\u306e\u9aa8\u304c\u56fa\u307e\u308b\uff08\u96e3\u8074\uff09\u300d\u3068\u3044\u3046\u75c7\u72b6\u306e\u76f4\u63a5\u7684\u306a\u539f\u56e0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u907a\u4f1d\u5b50:<\/strong><\/li>\n<\/ul>\n\n\n\n<p>\u6b20\u5931\u304c\u5e83\u7bc4\u56f2\u306b\u53ca\u3076\u5834\u5408\u3001<em>RNF43<\/em>\u3084<em>TRIM25<\/em>\u306a\u3069\u3001\u5468\u8fba\u306e\u4ed6\u306e\u907a\u4f1d\u5b50\u3082\u4e00\u7dd2\u306b\u5931\u308f\u308c\u307e\u3059\u3002\u3053\u308c\u304c\u3001\u5358\u306a\u308b<em>NOG<\/em>\u907a\u4f1d\u5b50\u5909\u7570\uff08\u9aa8\u306e\u75c5\u6c17\u306e\u307f\uff09\u3068\u306f\u7570\u306a\u308a\u3001\u767a\u9054\u9045\u6ede\u3084\u305d\u306e\u4ed6\u306e\u5168\u8eab\u75c7\u72b6\u3092\u5408\u4f75\u3059\u308b\u8981\u56e0\u306b\u306a\u3063\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\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>\u975e\u5e38\u306b\u7a00\uff08Very Rare\uff09<\/strong><\/p>\n\n\n\n<p>17q22\u6b20\u5931\u75c7\u5019\u7fa4\u306e\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\u75c7\u4f8b\u5831\u544a\u6570\u3082\u6570\u5341\u4f8b\u898f\u6a21\u3067\u3042\u308a\u3001\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\u306e\u4e2d\u3067\u3082\u7a00\u306a\u90e8\u985e\u306b\u5165\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u672c\u75be\u60a3\u306e\u4e3b\u75c7\u72b6\u3067\u3042\u308b\u300c\u6307\u306e\u95a2\u7bc0\u304c\u66f2\u304c\u3089\u306a\u3044\u300d\u300c\u96e3\u8074\u300d\u3068\u3044\u3063\u305f\u75c7\u72b6\u306f\u3001\u547d\u306b\u95a2\u308f\u308b\u3082\u306e\u3067\u306f\u306a\u3044\u305f\u3081\u3001\u8efd\u75c7\u306e\u5834\u5408\u306f\u300c\u5bb6\u7cfb\u7684\u306a\u4f53\u8cea\u300d\u3068\u3057\u3066\u898b\u904e\u3054\u3055\u308c\u3001\u907a\u4f1d\u5b66\u7684\u8a3a\u65ad\u306b\u81f3\u3063\u3066\u3044\u306a\u3044\u30b1\u30fc\u30b9\uff08\u904e\u5c11\u8a3a\u65ad\uff09\u304c\u4e00\u5b9a\u6570\u5b58\u5728\u3059\u308b\u3068\u63a8\u6e2c\u3055\u308c\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>17q22 deletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u9aa8\u30fb\u95a2\u7bc0\u306e\u7570\u5e38\u300d\u300c\u8074\u899a\u969c\u5bb3\u300d\u300c\u8efd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u300d**\u304c3\u3064\u306e\u67f1\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u9aa8\u3068\u8033\u306e\u75c7\u72b6\u306fNOG\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u76f4\u7d50\u3057\u3066\u304a\u308a\u3001\u975e\u5e38\u306b\u7279\u5fb4\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u9aa8\u30fb\u95a2\u7bc0\u306e\u7570\u5e38\uff08Skeletal \/ Joint anomalies\uff09<\/strong><\/p>\n\n\n\n<p>\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u8a8d\u3081\u3089\u308c\u308b\u6700\u3082\u9855\u8457\u306a\u7279\u5fb4\u3067\u3059\u3002\u75db\u307f\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u52d5\u304d\u306b\u5236\u9650\u304c\u51fa\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8fd1\u4f4d\u6307\u7bc0\u9593\u95a2\u7bc0\u7652\u5408\u75c7\uff08Symphalangism\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u6307\u3084\u8db3\u6307\u306e\u300c\u7b2c2\u95a2\u7bc0\uff08PIP\u95a2\u7bc0\uff09\u300d\u304c\u7652\u5408\u3057\u3066\u3057\u307e\u3044\u3001\u66f2\u3052\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u898b\u305f\u76ee\u306b\u306f\u3001\u6307\u306e\u95a2\u7bc0\u306e\u30b7\u30ef\uff08\u76ae\u7dda\uff09\u304c\u6d88\u5931\u3057\u3066\u304a\u308a\u3001\u6307\u304c\u30c4\u30eb\u30c3\u3068\u3057\u305f\u68d2\u72b6\u306b\u898b\u3048\u308b\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u6307\u4ee5\u5916\u306e\u6307\u3001\u7279\u306b\u5c0f\u6307\u3084\u85ac\u6307\u306b\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u5168\u3066\u306e\u6307\u306b\u53ca\u3076\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u624b\u6839\u9aa8\u30fb\u8db3\u6839\u9aa8\u7652\u5408\u75c7\uff08Carpal\/Tarsal coalition\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u9996\uff08\u624b\u6839\u9aa8\uff09\u3084\u8db3\u9996\uff08\u8db3\u6839\u9aa8\uff09\u306b\u3042\u308b\u5c0f\u3055\u306a\u9aa8\u540c\u58eb\u304c\u304f\u3063\u3064\u3044\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8db3\u6839\u9aa8\u7652\u5408\u306b\u3088\u308a\u3001<strong>\u504f\u5e73\u8db3<\/strong>\u3084\u8db3\u306e\u75db\u307f\u3001\u6b69\u884c\u6642\u306e\u75b2\u308c\u3084\u3059\u3055\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u9aa8\u683c\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77ed\u3044\u6307\uff08\u77ed\u6307\u75c7\uff09\u3001\u89aa\u6307\u306e\u4ed8\u3051\u6839\u304c\u592a\u3044\uff08\u5e45\u5e83\u6bcd\u6307\uff09\u3001\u8098\u95a2\u7bc0\u306e\u53ef\u52d5\u57df\u5236\u9650\uff08\u8098\u304c\u5b8c\u5168\u306b\u4f38\u3073\u306a\u3044\u30fb\u66f2\u304c\u3089\u306a\u3044\uff09\u3001\u810a\u67f1\u306e\u7570\u5e38\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>2. \u8074\u899a\u969c\u5bb3\uff08\u96e3\u8074\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308bQOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f1d\u97f3\u6027\u96e3\u8074\uff08Conductive hearing loss\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5e7c\u5c11\u671f\u304b\u3089\u96e3\u8074\u3092\u8a8d\u3081\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u539f\u56e0\u306f\u3001\u4e2d\u8033\u306b\u3042\u308b\u97f3\u3092\u4f1d\u3048\u308b\u5c0f\u3055\u306a\u9aa8\uff08\u8033\u5c0f\u9aa8\uff1a\u30c4\u30c1\u9aa8\u3001\u30ad\u30cc\u30bf\u9aa8\u3001\u30a2\u30d6\u30df\u9aa8\uff09\u306e\u3046\u3061\u3001**\u30a2\u30d6\u30df\u9aa8\uff08Stapes\uff09**\u304c\u56fa\u7740\u3057\u3066\u52d5\u304b\u306a\u304f\u306a\u308b\u3053\u3068\uff08Stapes ankylosis\uff09\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8033\u5c0f\u9aa8\u306b\u3082\u95a2\u7bc0\u306e\u3088\u3046\u306a\u69cb\u9020\u304c\u3042\u308a\u3001<em>NOG<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u308a\u3053\u306e\u90e8\u5206\u3082\u9aa8\u7652\u5408\u3057\u3066\u3057\u307e\u3046\u305f\u3081\u3001\u97f3\u304c\u3046\u307e\u304f\u4f1d\u308f\u3089\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u9032\u884c\u6027\u3067\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u3001\u65e9\u671f\u767a\u898b\u304c\u8a00\u8a9e\u767a\u9054\u306b\u304a\u3044\u3066\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u9aa8\u3060\u3051\u306e\u75c5\u6c17\uff08NOG\u5909\u7570\u5358\u72ec\uff09\u3068\u306f\u7570\u306a\u308a\u3001\u67d3\u8272\u4f53\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u3057\u3066\u4ee5\u4e0b\u306e\u7279\u5fb4\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>\u767a\u9054\u9045\u6ede\u30fb\u77e5\u7684\u969c\u5bb3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u75c7\u4f8b\u5831\u544a\u3067\u306f\u3001<strong>\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6<\/strong>\u306e\u767a\u9054\u9045\u6ede\u3084\u77e5\u7684\u969c\u5bb3\u304c\u8a8d\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001\u91cd\u5ea6\u3067\u3042\u308b\u3053\u3068\u306f\u7a00\u3067\u3042\u308a\u3001\u901a\u5e38\u306e\u5b66\u6821\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u60a3\u8005\u3055\u3093\u3082\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u96e3\u8074\u304c\u3042\u308b\u5834\u5408\u3001\u8a00\u8449\u306e\u9045\u308c\u304c\u300c\u77e5\u7684\u306a\u9045\u308c\u300d\u306b\u3088\u308b\u3082\u306e\u304b\u300c\u805e\u3053\u3048\u306b\u304f\u3055\u300d\u306b\u3088\u308b\u3082\u306e\u304b\u306e\u9451\u5225\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u306a\u3069\u306e\u884c\u52d5\u7279\u6027\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u7279\u7570\u7684\u306a\u884c\u52d5\u30d1\u30bf\u30fc\u30f3\u306f\u5b9a\u307e\u3063\u3066\u3044\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u7279\u5fb4\u7684\u306a\u9854\u8c8c<\/strong><\/p>\n\n\n\n<p>\u300c\u3053\u306e\u75c5\u6c17\u7279\u6709\u300d\u3068\u3044\u3046\u307b\u3069\u5f37\u3044\u7279\u5fb4\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u3044\u304f\u3064\u304b\u306e\u5171\u901a\u70b9\uff08Dysmorphism\uff09\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5e83\u3044\u524d\u982d\u90e8\uff08\u304a\u3067\u3053\u304c\u5e83\u3044\uff09<\/li>\n\n\n\n<li>\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09<\/li>\n\n\n\n<li>\u8584\u3044\u4e0a\u5507<\/li>\n\n\n\n<li>\u8033\u306e\u5f62\u306e\u7570\u5e38\uff08\u4f4e\u4f4d\u4ed8\u7740\u8033\u306a\u3069\uff09<\/li>\n\n\n\n<li>\u5c0f\u3055\u306a\u984e\uff08\u5c0f\u984e\u75c7\uff09<\/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>\u773c\u79d1:<\/strong> \u9060\u8996\u3001\u659c\u8996\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u30fb\u5c3f\u8def\u7cfb:<\/strong> \u7a00\u306b\u814e\u81d3\u306e\u5f62\u614b\u7570\u5e38\u304c\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u5fc3\u8840\u7ba1\u7cfb:<\/strong> \u5831\u544a\u306f\u5c11\u306a\u3044\u3067\u3059\u304c\u3001\u5fc3\u75be\u60a3\u306e\u5408\u4f75\u4f8b\u3082\u5b58\u5728\u3057\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\uff0817q22\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931\u306b\u3088\u308b\u3001NOG\u907a\u4f1d\u5b50\u7b49\u306e\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. NOG\u907a\u4f1d\u5b50\u3068BMP\u30b7\u30b0\u30ca\u30eb<\/strong><\/p>\n\n\n\n<p>\u306a\u305c\u300c\u95a2\u7bc0\u300d\u3068\u300c\u8033\u300d\u304c\u304a\u304b\u3057\u304f\u306a\u308b\u306e\u3067\u3057\u3087\u3046\u304b\uff1f<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u95a2\u7bc0\u306e\u5f62\u6210:<\/strong> \u80ce\u5150\u306e\u624b\u8db3\u306f\u6700\u521d\u3001\u6c34\u304b\u304d\u306e\u3088\u3046\u306a\u584a\u3067\u3059\u304c\u3001\u30d7\u30ed\u30b0\u30e9\u30e0\u3055\u308c\u305f\u7d30\u80de\u6b7b\uff08\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\uff09\u306b\u3088\u3063\u3066\u6307\u304c\u5206\u304b\u308c\u3001\u9aa8\u306e\u9593\u306b\u95a2\u7bc0\u8154\u304c\u3067\u304d\u307e\u3059\u3002\u3053\u306e\u30d7\u30ed\u30bb\u30b9\u3092\u7cbe\u5bc6\u306b\u5236\u5fa1\u3057\u3066\u3044\u308b\u306e\u304c\u3001\u9aa8\u3092\u4f5c\u308b\u30a2\u30af\u30bb\u30eb\u300cBMP\u300d\u3068\u3001\u30d6\u30ec\u30fc\u30ad\u300cNoggin\uff08NOG\uff09\u300d\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30d6\u30ec\u30fc\u30ad\u306e\u6545\u969c:<\/strong> 17q22\u6b20\u5931\u306b\u3088\u308aNoggin\u304c\u4e0d\u8db3\u3059\u308b\u3068\u3001BMP\u306e\u30d6\u30ec\u30fc\u30ad\u304c\u52b9\u304b\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u3059\u308b\u3068\u3001\u672c\u6765\u95a2\u7bc0\u3068\u3057\u3066\u9699\u9593\u304c\u3067\u304d\u308b\u306f\u305a\u306e\u5834\u6240\u3067\u3082\u9aa8\u5f62\u6210\u304c\u9032\u3093\u3067\u3057\u307e\u3044\u3001\u9aa8\u3068\u9aa8\u304c\u3064\u306a\u304c\u3063\u3066\u3057\u307e\u3044\u307e\u3059\uff08\u7652\u5408\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8033\u5c0f\u9aa8:<\/strong> \u8033\u306e\u5965\u306e\u5c0f\u3055\u306a\u9aa8\uff08\u30a2\u30d6\u30df\u9aa8\u306a\u3069\uff09\u3082\u95a2\u7bc0\u3067\u3064\u306a\u304c\u3063\u3066\u52d5\u3044\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u3053\u3082\u540c\u69d8\u306b\u56fa\u307e\u3063\u3066\u3057\u307e\u3046\u305f\u3081\u3001\u96e3\u8074\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5f62\u5f0f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304b\u3089\u5b50\u307850%\u306e\u78ba\u7387\u3067\u907a\u4f1d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u5185\u767a\u75c7\u304c\u591a\u3044:<\/strong> \u672c\u75be\u60a3\uff08\u307e\u305f\u306f\u985e\u4f3c\u306e\u9aa8\u7cfb\u7d71\u75be\u60a3\uff09\u306f\u3001\u89aa\u3082\u540c\u3058\u75c7\u72b6\uff08\u6307\u304c\u66f2\u304c\u3089\u306a\u3044\u3001\u96e3\u8074\u304c\u3042\u308b\uff09\u3092\u6301\u3063\u3066\u3044\u308b\u30b1\u30fc\u30b9\u304c\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u89aa\u304c\u300cNOG\u70b9\u5909\u7570\u300d\u3067\u306f\u306a\u304f\u300c17q22\u6b20\u5931\u300d\u3092\u6301\u3063\u3066\u3044\u305f\u5834\u5408\u3001\u5b50\u4f9b\u306b\u3082\u6b20\u5931\u304c\u907a\u4f1d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e21\u89aa\u306f\u5065\u5e38\u3067\u3001\u5b50\u4f9b\u3067\u521d\u3081\u3066\u767a\u751f\u3059\u308b\u7a81\u7136\u5909\u7570\u306e\u30b1\u30fc\u30b9\u3082\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>\u300c\u6307\u306e\u95a2\u7bc0\u306e\u30b7\u30ef\u304c\u306a\u3044\u300d\u300c\u6307\u304c\u66f2\u304c\u3089\u306a\u3044\u300d\u3068\u3044\u3046\u8eab\u4f53\u6240\u898b\u304c\u8a3a\u65ad\u306e\u5f37\u3044\u304d\u3063\u304b\u3051\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>X\u7dda\u691c\u67fb\uff08\u30ec\u30f3\u30c8\u30b2\u30f3\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u8db3\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\u3067\u3001\u6307\u7bc0\u9593\u95a2\u7bc0\u3084\u624b\u6839\u9aa8\u30fb\u8db3\u6839\u9aa8\u306e\u7652\u5408\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u95a2\u7bc0\u306e\u9699\u9593\u304c\u306a\u304f\u306a\u308a\u3001\u9aa8\u304c\u9023\u7d9a\u3057\u3066\u3044\u308b\u50cf\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\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>17q22\u9818\u57df\u306e\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u6b20\u5931\u7bc4\u56f2\uff08\u30b5\u30a4\u30ba\uff09\u3068\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\uff08<em>NOG<\/em>\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\uff09\u3092\u7279\u5b9a\u3059\u308b\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8074\u529b\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f1d\u97f3\u6027\u96e3\u8074\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\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\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u9aa8\u30fb\u95a2\u7bc0\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u6574\u5f62\u5916\u79d1\u7684\u5bfe\u5fdc\u3001\u96e3\u8074\u306b\u5bfe\u3059\u308b\u8033\u9f3b\u79d1\u7684\u5bfe\u5fdc\u3001\u304a\u3088\u3073\u767a\u9054\u652f\u63f4\u306e3\u672c\u67f1\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6574\u5f62\u5916\u79d1\u7684\u6cbb\u7642\u30fb\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u89b3\u5bdf\u3068\u4fdd\u5b58\u7642\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u6307\u306e\u95a2\u7bc0\u7652\u5408\uff08\u30b7\u30f3\u30d5\u30a1\u30e9\u30f3\u30b8\u30ba\u30e0\uff09\u81ea\u4f53\u306b\u306f\u75db\u307f\u304c\u306a\u3044\u305f\u3081\u3001\u65e5\u5e38\u751f\u6d3b\u306b\u5927\u304d\u306a\u652f\u969c\u304c\u306a\u3051\u308c\u3070\u624b\u8853\u306f\u884c\u308f\u305a\u3001\u9053\u5177\u306e\u5de5\u592b\uff08\u81ea\u52a9\u5177\u306e\u4f7f\u7528\u306a\u3069\uff09\u3067\u5bfe\u5fdc\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8db3\u306e\u7ba1\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8db3\u6839\u9aa8\u7652\u5408\u306b\u3088\u308a\u75db\u307f\u304c\u3042\u308b\u5834\u5408\u3084\u3001\u8457\u3057\u3044\u504f\u5e73\u8db3\u3067\u6b69\u884c\u304c\u56f0\u96e3\u306a\u5834\u5408\u306f\u3001\u4e2d\u6577\u304d\uff08\u30a2\u30fc\u30c1\u30b5\u30dd\u30fc\u30c8\uff09\u3084\u7279\u6ce8\u9774\u3092\u4f7f\u7528\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u91cd\u5ea6\u306e\u5834\u5408\u306f\u3001\u7652\u5408\u90e8\u5206\u3092\u5207\u9664\u3059\u308b\u624b\u8853\u3084\u3001\u9006\u306b\u95a2\u7bc0\u3092\u56fa\u5b9a\u3059\u308b\u624b\u8853\u3092\u691c\u8a0e\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u614e\u91cd\u306b\u5224\u65ad\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u8033\u9f3b\u54bd\u5589\u79d1\u7684\u6cbb\u7642\uff08\u96e3\u8074\u5bfe\u7b56\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u88dc\u8074\u5668:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f1d\u97f3\u6027\u96e3\u8074\u306b\u5bfe\u3057\u3066\u3001\u65e9\u671f\u304b\u3089\u88dc\u8074\u5668\u3092\u4f7f\u7528\u3057\u3001\u8074\u899a\u3068\u8a00\u8a9e\u306e\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30a2\u30d6\u30df\u9aa8\u624b\u8853:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8033\u786c\u5316\u75c7\u306e\u624b\u8853\u3068\u540c\u69d8\u306b\u3001\u56fa\u7740\u3057\u305f\u30a2\u30d6\u30df\u9aa8\u306e\u4e00\u90e8\u3092\u53d6\u308a\u9664\u304d\u3001\u4eba\u5de5\u30a2\u30d6\u30df\u9aa8\u306b\u7f6e\u304d\u63db\u3048\u308b\u624b\u8853\uff08\u30a2\u30d6\u30df\u9aa8\u624b\u8853\uff09\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u8074\u529b\u304c\u5287\u7684\u306b\u6539\u5584\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u9069\u5fdc\u306f\u614e\u91cd\u306b\u6c7a\u5b9a\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u767a\u9054\u30fb\u6559\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u306e\u9045\u308c\u304c\u3042\u308b\u5834\u5408\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b\u624b\u6307\u306e\u5de7\u7dfb\u6027\uff08\u624b\u5148\u306e\u5668\u7528\u3055\uff09\u306b\u5236\u9650\u304c\u3042\u308b\u5834\u5408\u3001OT\u306b\u3088\u308b\u751f\u6d3b\u52d5\u4f5c\u306e\u5de5\u592b\u3084\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\u304c\u6709\u52b9\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6559\u80b2\u74b0\u5883:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u767a\u9054\u306e\u7a0b\u5ea6\u3084\u96e3\u8074\u306e\u6709\u7121\u306b\u5408\u308f\u305b\u3001\u901a\u5e38\u306e\u5b66\u7d1a\u3067\u306e\u914d\u616e\uff08\u5ea7\u5e2d\u306e\u524d\u65b9\u78ba\u4fdd\u3001FM\u88dc\u8074\u30b7\u30b9\u30c6\u30e0\u306e\u5229\u7528\u306a\u3069\uff09\u3084\u3001\u901a\u7d1a\u6307\u5c0e\u6559\u5ba4\u3001\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u306e\u5229\u7528\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\u300c\u9aa8\u306e\u75c7\u72b6\u3060\u3051\u300d\u306e\u5834\u5408\u3082\u3042\u308c\u3070\u300c\u767a\u9054\u306e\u9045\u308c\u300d\u3092\u4f34\u3046\u5834\u5408\u3082\u3042\u308a\u3001\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b21\u5b50\u306e\u598a\u5a20\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u3084\u3001\u89aa\u81ea\u8eab\u306b\u3082\u4f3c\u305f\u75c7\u72b6\u304c\u3042\u308b\u5834\u5408\u3001\u907a\u4f1d\u5f62\u5f0f\u3084\u518d\u767a\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u5c02\u9580\u5bb6\u3068\u76f8\u8ac7\u3059\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\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>17q22 deletion syndrome\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\uff08NOG\u907a\u4f1d\u5b50\u306a\u3069\uff09\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u3001\u9aa8\u3068\u95a2\u7bc0\u3001\u305d\u3057\u3066\u8033\u306e\u9aa8\u306b\u7279\u5fb4\u7684\u306a\u5909\u5316\u304c\u73fe\u308c\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u6307\u306e\u95a2\u7bc0\u304c\u751f\u307e\u308c\u3064\u304d\u56fa\u307e\u3063\u3066\u3044\u3066\u66f2\u304c\u3089\u306a\u3044\u300d\u3068\u3044\u3046\u75c7\u72b6\u306f\u3001\u4e00\u898b\u4e0d\u4fbf\u305d\u3046\u306b\u898b\u3048\u307e\u3059\u304c\u3001\u75db\u307f\u306f\u306a\u304f\u3001\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u306f\u5668\u7528\u306b\u624b\u3092\u4f7f\u3063\u3066\u65e5\u5e38\u751f\u6d3b\u306b\u9069\u5fdc\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3067\u3001\u5916\u898b\u304b\u3089\u306f\u5206\u304b\u308a\u306b\u304f\u3044\u300c\u96e3\u8074\u300d\u304c\u96a0\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u3053\u308c\u304c\u8a00\u8449\u306e\u767a\u9054\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u65e9\u671f\u306e\u767a\u898b\u3068\u5bfe\u5fdc\uff08\u88dc\u8074\u5668\u306a\u3069\uff09\u304c\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u767a\u9054\u306e\u30da\u30fc\u30b9\u304c\u3086\u3063\u304f\u308a\u306a\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u305d\u308c\u305e\u308c\u306e\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u7642\u80b2\u3084\u6559\u80b2\u7684\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u7740\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6574\u5f62\u5916\u79d1\u3084\u8033\u9f3b\u79d1\u306e\u5b9a\u671f\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u3092\u53d7\u3051\u306a\u304c\u3089\u3001\u3054\u672c\u4eba\u304c\u6301\u3061\u524d\u306e\u80fd\u529b\u3092\u767a\u63ee\u3067\u304d\u308b\u3088\u3046\u3001\u74b0\u5883\u3092\u6574\u3048\u3066\u3044\u304f\u3053\u3068\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>Potti, T.A., et al.<\/strong> (2011). <em>A novel 17q22 microdeletion associated with NOG-related symphalangism spectrum.<\/em> American Journal of Medical Genetics Part A.\n<ul class=\"wp-block-list\">\n<li>(\u203b17q22\u5fae\u7d30\u6b20\u5931\u3068NOG\u95a2\u9023\u30b7\u30f3\u30d5\u30a1\u30e9\u30f3\u30b8\u30ba\u30e0\uff08\u6307\u7bc0\u7652\u5408\uff09\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3068\u306e\u95a2\u9023\u3092\u5831\u544a\u3057\u3001NOG\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u4e3b\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>NOG-Related-Symphalangism Spectrum Disorder<\/em>. Initial Posting: February 16, 2006; Last Update: October 12, 2017. <em>Authors: Potti TA, et al.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bNOG\u907a\u4f1d\u5b50\u7570\u5e38\u306b\u3088\u308b\u75be\u60a3\u7fa4\u306e\u5305\u62ec\u7684\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u300217q22\u6b20\u5931\u306b\u3064\u3044\u3066\u3082\u8a00\u53ca\u3055\u308c\u3066\u304a\u308a\u3001\u81e8\u5e8a\u30de\u30cd\u30b8\u30e1\u30f3\u30c8\uff08\u7279\u306b\u96e3\u8074\u3084\u5916\u79d1\u7684\u6cbb\u7642\uff09\u306b\u95a2\u3059\u308b\u8a73\u7d30\u306a\u60c5\u5831\u6e90\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Takahashi, Y., et al.<\/strong> (2013). <em>1.6 Mb microdeletion of 17q22 including NOG in a patient with proximal symphalangism, conductive hearing loss, and intellectual disability.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b17q22\u6b20\u5931\u60a3\u8005\uff08\u65e5\u672c\u4eba\u306e\u75c7\u4f8b\u542b\u3080\uff09\u306e\u8a73\u7d30\u306a\u5831\u544a\u3002NOG\u6b20\u5931\u306b\u3088\u308b\u9aa8\u30fb\u8074\u899a\u75c7\u72b6\u306b\u52a0\u3048\u3001\u5468\u8fba\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u308b\u77e5\u7684\u969c\u5bb3\u306e\u5408\u4f75\u306b\u3064\u3044\u3066\u8003\u5bdf\u3057\u3066\u3044\u307e\u3059\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Su, P., et al.<\/strong> (2019). <em>Identification of a 17q22 deletion in a father and son with symphalangism and intellectual disability.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u89aa\u5b50\u4f8b\u306e\u5831\u544a\u3002\u5bb6\u65cf\u6027\u304c\u3042\u308b\u3053\u3068\u3084\u3001\u8868\u73fe\u578b\u306e\u591a\u69d8\u6027\u306b\u3064\u3044\u3066\u306e\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>NOG<\/em> (Haploinsufficiency score: 3 &#8211; Sufficient evidence).\n<ul class=\"wp-block-list\">\n<li>(\u203bNOG\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff08\u6b20\u5931\uff09\u304c\u75be\u60a3\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>DECIPHER Database<\/strong>: <em>Genomic coordinates and phenotype data for 17q22 deletions.<\/em><\/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-16784","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\/16784","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":3,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16784\/revisions"}],"predecessor-version":[{"id":16825,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16784\/revisions\/16825"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16784"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}