{"id":16912,"date":"2026-01-21T02:14:04","date_gmt":"2026-01-21T02:14:04","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16912"},"modified":"2026-01-22T08:51:46","modified_gmt":"2026-01-22T08:51:46","slug":"20p12-3-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/20p12-3-microdeletion-syndrome\/","title":{"rendered":"20p12.3 microdeletion 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>20p12.3\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>20p12.3\u6b20\u5931\u75c7\u5019\u7fa4\uff0820p12.3 deletion syndrome\uff09<\/li>\n\n\n\n<li>20p12.3\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 20p12.3\uff09<\/li>\n\n\n\n<li>BMP2\u95a2\u9023\u9aa8\u683c\u30fb\u982d\u84cb\u9854\u9762\u7570\u5f62\u6210\uff08BMP2-related skeletal and craniofacial dysplasia\uff09<\/li>\n\n\n\n<li>\u30a6\u30a9\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7\u5019\u7fa4\u69d8\u9854\u8c8c\u3092\u4f34\u304620p\u6b20\u5931\uff0820p deletion with Wolf-Hirschhorn syndrome-like facial features\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\uff08Pierre Robin sequence\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u30a2\u30e9\u30b8\u30fc\u30eb\u75c7\u5019\u7fa4\uff08Alagille syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u30a2\u30e9\u30b8\u30fc\u30eb\u75c7\u5019\u7fa4\u306e\u8cac\u4efb\u9818\u57df\uff0820p12.2\uff09\u3068\u96a3\u63a5\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u6b20\u5931\u7bc4\u56f2\u306b\u3088\u3063\u3066\u306f\u5408\u4f75\u3059\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>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>20\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0912.3\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e20\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306b\u3042\u308b\u300c12.3\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\uff1aBMP2\u3011<\/p>\n\n\n\n<p>20\u756a\u67d3\u8272\u4f53\u306f\u6bd4\u8f03\u7684\u5c0f\u3055\u306a\u67d3\u8272\u4f53\u3067\u3059\u304c\u3001\u3053\u306e\u300cp12.3\u300d\u3068\u3044\u3046\u9818\u57df\u306b\u306f\u3001\u80ce\u5150\u671f\u306e\u4f53\u306e\u5f62\u6210\u3001\u7279\u306b\u300c\u9aa8\u300d\u3068\u300c\u8edf\u9aa8\u300d\u306e\u767a\u751f\u306b\u4e0d\u53ef\u6b20\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u5f62\u6210\u306b\u304a\u3044\u3066\u3001\u6700\u3082\u4e2d\u5fc3\u7684\u304b\u3064\u6c7a\u5b9a\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u306e\u304cBMP2 (Bone Morphogenetic Protein 2) \u907a\u4f1d\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>BMP2\u907a\u4f1d\u5b50\u306e\u5f79\u5272:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9aa8\u5f62\u6210\u30bf\u30f3\u30d1\u30af\u8cea\uff08BMP\uff09\u306e\u4e00\u7a2e\u3092\u4f5c\u308a\u51fa\u3059\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u80ce\u5150\u306e\u767a\u751f\u6bb5\u968e\u306b\u304a\u3044\u3066\u3001\u7d30\u80de\u304c\u9aa8\u3084\u8edf\u9aa8\u306b\u5909\u5316\uff08\u5206\u5316\uff09\u3059\u308b\u30b9\u30a4\u30c3\u30c1\u3092\u5165\u308c\u308b\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u307e\u305f\u3001\u9854\u9762\uff08\u7279\u306b\u984e\u3084\u53e3\u84cb\uff09\u306e\u5f62\u6210\u3084\u3001\u5fc3\u81d3\u306e\u767a\u751f\u306b\u3082\u6df1\u304f\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>20p12.3\u6b20\u5931\u306b\u3088\u308a<em>BMP2<\/em>\u907a\u4f1d\u5b50\u304c\u7247\u65b9\u5931\u308f\u308c\u308b\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3068\u3001\u3053\u308c\u3089\u306e\u7d44\u7e54\u304c\u5341\u5206\u306b\u767a\u9054\u3067\u304d\u305a\u3001\u53e3\u84cb\u88c2\u3084\u984e\u306e\u4f4e\u5f62\u6210\u3001\u9aa8\u683c\u7570\u5e38\u306a\u3069\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u306a\u304a\u3001\u6b20\u5931\u7bc4\u56f2\u304c\u8fd1\u4f4d\uff08\u4f53\u306e\u4e2d\u5fc3\u5074\uff09\u306b\u5e83\u304c\u308b\u3068\u3001\u96a3\u63a5\u3059\u308b20p12.2\u9818\u57df\u306e<em>JAG1<\/em>\u907a\u4f1d\u5b50\u307e\u3067\u5dfb\u304d\u8fbc\u307e\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u305d\u306e\u5834\u5408\u306f\u300c\u30a2\u30e9\u30b8\u30fc\u30eb\u75c7\u5019\u7fa4\uff08\u809d\u81d3\u3084\u5fc3\u81d3\u306e\u75c5\u6c17\uff09\u300d\u306e\u75c7\u72b6\u3082\u5408\u4f75\u3059\u308b\u3053\u3068\u306b\u306a\u308a\u307e\u3059\uff08\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff09\u3002\u3057\u304b\u3057\u3001\u72ed\u7fa9\u306e\u300c20p12.3\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u306f\u3001\u4e3b\u306b<em>BMP2<\/em>\u6b20\u5931\u306b\u3088\u308b\u75c7\u72b6\u3092\u6307\u3057\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\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\u898f\u6a21\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u53e3\u5507\u53e3\u84cb\u88c2\u3084\u984e\u306e\u5c0f\u3055\u3055\uff08\u5c0f\u984e\u75c7\uff09\u3092\u6301\u3064\u60a3\u8005\u3055\u3093\u306e\u4e2d\u306b\u3001\u67d3\u8272\u4f53\u691c\u67fb\u304c\u884c\u308f\u308c\u3066\u3044\u306a\u3044\u305f\u3081\u306b\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u30b1\u30fc\u30b9\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u5b9f\u969b\u306e\u983b\u5ea6\u306f\u5831\u544a\u6570\u3088\u308a\u3082\u591a\u3044\u3068\u63a8\u6e2c\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u672c\u75be\u60a3\u306f\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306e\u666e\u53ca\u306b\u3088\u3063\u3066\u767a\u898b\u3055\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u6bd4\u8f03\u7684\u65b0\u3057\u3044\u75be\u60a3\u6982\u5ff5\u3067\u3042\u308b\u3053\u3068\u3082\u3001\u5831\u544a\u6570\u304c\u5c11\u306a\u3044\u4e00\u56e0\u3067\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>20p12.3 microdeletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08\u30a6\u30a9\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u69d8\uff09\u300d\u300c\u53e3\u84cb\u88c2\u30fb\u5c0f\u984e\u75c7\uff08\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\uff09\u300d\u300c\u9aa8\u683c\u7570\u5e38\u300d\u300c\u767a\u9054\u306e\u9045\u308c\u300d**\u304c\u4e3b\u8981\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u30014\u756a\u67d3\u8272\u4f53\u306e\u7570\u5e38\u3067\u3042\u308b\u300c\u30a6\u30a9\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7\u5019\u7fa4\uff08WHS\uff09\u300d\u3068\u9854\u3064\u304d\u304c\u975e\u5e38\u306b\u3088\u304f\u4f3c\u3066\u3044\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u907a\u4f1d\u5b66\u7684\u306a\u539f\u56e0\u306f\u5168\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30a6\u30a9\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u69d8\u9854\u8c8c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7709\u9593\uff08\u76ee\u3068\u76ee\u306e\u9593\uff09\u304c\u5e83\u304f\u3001\u9f3b\u6839\u90e8\u304c\u9ad8\u3044\u3001\u3044\u308f\u3086\u308b\u300c\u30ae\u30ea\u30b7\u30e3\u306e\u6226\u58eb\u306e\u30d8\u30eb\u30e1\u30c3\u30c8\u300d\u306b\u4f3c\u305f\u9854\u8c8c\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u9ad8\u3044\u984d\u3001\u30a2\u30fc\u30c1\u72b6\u306e\u7709\u6bdb\u3001\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8033\u306e\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\uff08\u4f4e\u4f4d\u4ed8\u7740\u8033\uff09\u3001\u8033\u4ecb\u306e\u5909\u5f62\u3001\u8033\u306e\u524d\u306b\u3042\u308b\u5c0f\u3055\u306a\u7a74\uff08\u8033\u763b\u5b54\uff09\u3084\u7a81\u8d77\uff08\u526f\u8033\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u53e3\u8154\u30fb\u984e\u306e\u5f62\u6210\u7570\u5e38\uff08\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u6700\u3082\u533b\u5b66\u7684\u7ba1\u7406\u3092\u8981\u3059\u308b\u91cd\u8981\u306a\u75c7\u72b6\u7fa4\u3067\u3059\u3002<em>BMP2<\/em>\u306e\u4e0d\u8db3\u306b\u3088\u308a\u3001\u984e\u3084\u53e3\u306e\u4e2d\u306e\u9aa8\u306e\u6210\u9577\u304c\u60aa\u304f\u306a\u308b\u3053\u3068\u3067\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\uff08Pierre Robin sequence\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4ee5\u4e0b\u306e3\u3064\u306e\u75c7\u72b6\u304c\u9023\u9396\u7684\u306b\u8d77\u3053\u308b\u72b6\u614b\u3067\u3059\u3002\n<ol class=\"wp-block-list\">\n<li><strong>\u5c0f\u984e\u75c7\uff08Micrognathia\uff09:<\/strong> \u4e0b\u3042\u3054\u304c\u6975\u7aef\u306b\u5c0f\u3055\u3044\u3002<\/li>\n\n\n\n<li><strong>\u820c\u6839\u6c88\u4e0b\uff08Glossoptosis\uff09:<\/strong> \u3042\u3054\u304c\u5c0f\u3055\u3044\u305f\u3081\u3001\u820c\u304c\u5589\u306e\u5965\u306b\u843d\u3061\u8fbc\u3093\u3067\u3057\u307e\u3046\u3002<\/li>\n\n\n\n<li><strong>\u6c17\u9053\u9589\u585e\u30fb\u547c\u5438\u56f0\u96e3:<\/strong> \u820c\u304c\u6c17\u9053\u3092\u585e\u304e\u3001\u547c\u5438\u304c\u3067\u304d\u306a\u304f\u306a\u308b\u3002<\/li>\n<\/ol>\n<\/li>\n\n\n\n<li>\u591a\u304f\u306e\u5834\u5408\u3001<strong>\u53e3\u84cb\u88c2\uff08Cleft palate\uff09<\/strong>\uff08\u4e0a\u3042\u3054\u306e\u5272\u308c\uff09\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u53e3\u5507\u88c2:<\/strong> \u5507\u304c\u5272\u308c\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u9aa8\u683c\u30fb\u56db\u80a2\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<p>\u5168\u8eab\u306e\u9aa8\u683c\u5f62\u6210\u306b\u95a2\u308f\u308b<em>BMP2<\/em>\u306e\u5f71\u97ff\u306b\u3088\u308a\u3001\u69d8\u3005\u306a\u9aa8\u306e\u7279\u5fb4\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6307\u306e\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u6307\u75c7\uff08\u6307\u304c\u591a\u3044\uff1a\u305f\u3060\u3057\u3053\u308c\u306f\u96a3\u63a5\u3059\u308b<em>ALX4<\/em>\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u306e\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\uff09\u3002<\/li>\n\n\n\n<li>\u5408\u6307\u75c7\uff08\u6307\u304c\u304f\u3063\u3064\u3044\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li>\u6307\u306e\u77ed\u7e2e\u3001\u722a\u306e\u5f62\u6210\u4e0d\u5168\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u810a\u690e\u306e\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9838\u690e\u306e\u7652\u5408\uff08\u9996\u306e\u9aa8\u304c\u304f\u3063\u3064\u3044\u3066\u3044\u308b\uff1a\u30af\u30ea\u30c3\u30da\u30eb\u30fb\u30d5\u30a1\u30a4\u30eb\u75c7\u5019\u7fa4\u69d8\uff09\u3084\u3001\u5074\u5f2f\u75c7\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6210\u9577\u969c\u5bb3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u5f8c\u306e\u8eab\u9577\u306e\u4f38\u3073\u304c\u60aa\u304f\u3001<strong>\u4f4e\u8eab\u9577<\/strong>\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\u3067\u3001\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u304c\u3001\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u6ede\uff08DD\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9996\u3059\u308f\u308a\u3084\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u3001\u304a\u3088\u3073\u8a00\u8449\u306e\u767a\u9054\u306b\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u96e3\u8074\uff08\u53e3\u84cb\u88c2\u306b\u4f34\u3046\u4e2d\u8033\u708e\u3084\u9aa8\u683c\u7570\u5e38\u306b\u3088\u308b\uff09\u304c\u3042\u308b\u5834\u5408\u3001\u8a00\u8a9e\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u5927\u304d\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\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>\u91cd\u5ea6\u306e\u969c\u5bb3\u3068\u306a\u308b\u3053\u3068\u306f\u6bd4\u8f03\u7684\u5c11\u306a\u304f\u3001\u9069\u5207\u306a\u7642\u80b2\u306b\u3088\u308a\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u3092\u7372\u5f97\u3067\u304d\u308b\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3067\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>\u96e3\u8074:<\/strong> \u4f1d\u97f3\u6027\u96e3\u8074\uff08\u4e2d\u8033\u306e\u554f\u984c\uff09\u307e\u305f\u306f\u611f\u97f3\u6027\u96e3\u8074\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09\u3084\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u814e\u30fb\u6ccc\u5c3f\u5668:<\/strong> \u505c\u7559\u7cbe\u5de3\u3084\u5c3f\u9053\u4e0b\u88c2\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>20\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff0820p12.3\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931\u306b\u3088\u308b\u3001BMP2\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong>\u304c\u4e3b\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u30cf\u30d7\u30ed\u4e0d\u5168\uff08Haploinsufficiency\uff09\u306e\u30e1\u30ab\u30cb\u30ba\u30e0<\/strong><\/p>\n\n\n\n<p>\u901a\u5e38\u3001\u907a\u4f1d\u5b50\u306f\u7236\u7531\u6765\u3068\u6bcd\u7531\u6765\u306e2\u672c\u30bb\u30c3\u30c8\u3067\u6a5f\u80fd\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>BMP2\u907a\u4f1d\u5b50\u306f\u3001\u9aa8\u3084\u9854\u3092\u4f5c\u308b\u305f\u3081\u306e\u975e\u5e38\u306b\u5f37\u529b\u306a\u6307\u4ee4\u3092\u51fa\u3059\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u308c\u304c\u6b20\u5931\u306b\u3088\u3063\u30661\u672c\uff08\u534a\u5206\uff09\u306b\u306a\u3063\u3066\u3057\u307e\u3046\u3068\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u4e0d\u8db3\u3057\u3001\u7d30\u80de\u306b\u5bfe\u3057\u3066\u300c\u9aa8\u306b\u306a\u308c\u300d\u300c\u3042\u3054\u3092\u4f5c\u308c\u300d\u3068\u3044\u3046\u6307\u4ee4\u304c\u5f31\u304f\u306a\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u7d50\u679c\u3001\u3042\u3054\u304c\u5341\u5206\u306b\u6210\u9577\u3057\u306a\u304b\u3063\u305f\u308a\uff08\u5c0f\u984e\u75c7\uff09\u3001\u53e3\u84cb\u304c\u9589\u3058\u306a\u304b\u3063\u305f\u308a\uff08\u53e3\u84cb\u88c2\uff09\u3001\u6307\u306e\u9aa8\u304c\u5909\u5f62\u3057\u305f\u308a\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>2. \u30d5\u30a7\u30ce\u30b3\u30d4\u30fc\uff08\u8868\u73fe\u578b\u306e\u6a21\u5199\uff09<\/strong><\/p>\n\n\n\n<p>\u306a\u305c\u3001\u5168\u304f\u9055\u3046\u5834\u6240\u306e\u67d3\u8272\u4f53\u7570\u5e38\u3067\u3042\u308b\u300c\u30a6\u30a9\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7\u5019\u7fa4\uff084p16.3\u6b20\u5931\uff09\u300d\u3068\u9854\u304c\u4f3c\u308b\u306e\u3067\u3057\u3087\u3046\u304b\uff1f<\/p>\n\n\n\n<p>\u8fd1\u5e74\u306e\u7814\u7a76\u3067\u306f\u300120p12.3\u306b\u3042\u308bBMP2\u907a\u4f1d\u5b50\u3068\u30014p16.3\u306b\u3042\u308bWHS\u95a2\u9023\u907a\u4f1d\u5b50\u306f\u3001\u9854\u9762\u5f62\u6210\u306e\u904e\u7a0b\u306b\u304a\u3044\u3066\u540c\u3058\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u3042\u308b\u3044\u306f\u5bc6\u63a5\u306b\u95a2\u308f\u308b\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u4e0a\u3067\u50cd\u3044\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3064\u307e\u308a\u3001\u9055\u3046\u5834\u6240\u306e\u6545\u969c\u3067\u3082\u3001\u6700\u7d42\u7684\u306a\u9854\u306e\u5f62\u6210\u30d7\u30ed\u30bb\u30b9\u306b\u304a\u3044\u3066\u306f\u4f3c\u305f\u3088\u3046\u306a\u30a8\u30e9\u30fc\u304c\u8d77\u304d\u308b\u305f\u3081\u3001\u7d50\u679c\u3068\u3057\u3066\u4f3c\u305f\u9854\u3064\u304d\u306b\u306a\u308b\uff08\u30d5\u30a7\u30ce\u30b3\u30d4\u30fc\uff09\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>3. \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>\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\u89aa\u306e\u8ee2\u5ea7\u306a\u3069\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3001\u5b50\u4f9b\u306b\u4e0d\u5747\u8861\u306a\u6b20\u5931\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u307e\u305f\u3001\u89aa\u304c\u975e\u5e38\u306b\u8efd\u5fae\u306a\u75c7\u72b6\uff08\u8efd\u5ea6\u306e\u4f4e\u8eab\u9577\u3084\u9854\u8c8c\u306e\u7279\u5fb4\u306e\u307f\uff09\u3092\u6301\u3063\u3066\u304a\u308a\u3001\u6b20\u5931\u304c\u907a\u4f1d\u3057\u3066\u3044\u308b\u30b1\u30fc\u30b9\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\uff08\u53ef\u5909\u8868\u73fe\u6027\uff09\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\u53e3\u84cb\u88c2\u300d\u300c\u5c0f\u984e\u75c7\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u306b\u52a0\u3048\u3001\u300c\u30a6\u30a9\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7\u5019\u7fa4\u306b\u4f3c\u3066\u3044\u308b\u304c4\u756a\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3060\u3063\u305f\u300d\u3068\u3044\u3046\u5834\u5408\u306b\u7591\u308f\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>20p12.3\u9818\u57df\u306e\u5fae\u7d30\u6b20\u5931\u3092\u691c\u51fa\u3059\u308b\u305f\u3081\u306e**\u7b2c\u4e00\u9078\u629e\uff08\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff09**\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\u3068\u3001<em>BMP2<\/em>\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3001\u96a3\u306e<em>JAG1<\/em>\u907a\u4f1d\u5b50\uff08\u30a2\u30e9\u30b8\u30fc\u30eb\u75c7\u5019\u7fa4\uff09\u307e\u3067\u53ca\u3093\u3067\u3044\u306a\u3044\u304b\u3092\u8a73\u7d30\u306b\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u81e8\u5e8a\u7684\u306a\u9664\u5916\u8a3a\u65ad:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30a6\u30a9\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7\u5019\u7fa4\uff084p\u6b20\u5931\uff09\u306e\u691c\u67fb\u304c\u9670\u6027\u3067\u3042\u3063\u305f\u5834\u5408\u306b\u3001\u6b21\u306e\u30b9\u30c6\u30c3\u30d7\u3068\u3057\u3066\u5168\u30b2\u30ce\u30e0\u306e\u30c1\u30a7\u30c3\u30af\uff08CMA\uff09\u3092\u884c\u3044\u767a\u898b\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\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\u7279\u306b\u300c\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\uff08\u547c\u5438\u30fb\u54fa\u4e73\u969c\u5bb3\uff09\u300d\u306b\u5bfe\u3059\u308b\u65e9\u671f\u4ecb\u5165\u3068\u3001\u53e3\u84cb\u88c2\u306b\u5bfe\u3059\u308b\u5916\u79d1\u7684\u6cbb\u7642\u3001\u305d\u3057\u3066\u767a\u9054\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\u3078\u306e\u5bfe\u5fdc\uff08\u65b0\u751f\u5150\u671f\u301c\u4e73\u5150\u671f\uff09<\/strong><\/p>\n\n\n\n<p>\u751f\u547d\u306b\u95a2\u308f\u308b\u305f\u3081\u3001\u6700\u512a\u5148\u3067\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f53\u4f4d\u7ba1\u7406:<\/strong> \u8179\u81e5\u4f4d\uff08\u3046\u3064\u4f0f\u305b\u5bdd\uff09\u306b\u3059\u308b\u3053\u3068\u3067\u3001\u91cd\u529b\u306b\u3088\u308a\u820c\u3092\u524d\u306b\u51fa\u3057\u3001\u6c17\u9053\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7d4c\u9f3b\u30a8\u30a2\u30a6\u30a7\u30a4:<\/strong> \u9f3b\u304b\u3089\u30c1\u30e5\u30fc\u30d6\u3092\u5165\u308c\u3066\u6c17\u9053\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5916\u79d1\u7684\u624b\u8853:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u820c\u5507\u7652\u7740\u8853:<\/strong> \u820c\u3092\u5507\u306b\u7e2b\u3044\u4ed8\u3051\u3066\u3001\u5965\u306b\u843d\u3061\u8fbc\u307e\u306a\u3044\u3088\u3046\u306b\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e0b\u984e\u5ef6\u9577\u8853\uff08\u9aa8\u5ef6\u9577\u6cd5\uff09:<\/strong> \u9aa8\u3092\u5207\u3063\u3066\u5c11\u3057\u305a\u3064\u4f38\u3070\u3059\u88c5\u7f6e\u3092\u4ed8\u3051\u3001\u5c0f\u3055\u3044\u4e0b\u3042\u3054\u3092\u524d\u306b\u51fa\u3057\u3066\u6c17\u9053\u3092\u5e83\u3052\u307e\u3059\u3002\u6839\u672c\u7684\u306a\u6539\u5584\u304c\u671f\u5f85\u3067\u304d\u308b\u6cbb\u7642\u6cd5\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5f62\u6210\u5916\u79d1\u30fb\u53e3\u8154\u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53e3\u84cb\u88c2\u624b\u8853:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u751f\u5f8c1\u6b73\u301c1\u6b73\u534a\u9803\u306b\u3001\u53e3\u84cb\uff08\u4e0a\u3042\u3054\uff09\u3092\u9589\u3058\u308b\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8853\u5f8c\u306f\u3001\u8a00\u8449\u306e\u7df4\u7fd2\uff08\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff09\u3092\u884c\u3044\u3001\u6b63\u3057\u3044\u767a\u97f3\u306e\u7372\u5f97\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u77ef\u6b63:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u984e\u306e\u6210\u9577\u3084\u6b6f\u4e26\u3073\u306e\u554f\u984c\u306b\u5bfe\u3057\u3001\u9577\u671f\u9593\u306e\u77ef\u6b63\u6cbb\u7642\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4<\/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>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u65e9\u671f\u304b\u3089\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>\u53e3\u84cb\u88c2\u306b\u4f34\u3046\u69cb\u97f3\u969c\u5bb3\uff08\u767a\u97f3\u306e\u4e0d\u660e\u77ad\u3055\uff09\u3084\u3001\u8a00\u8a9e\u767a\u9054\u9045\u6ede\u306b\u5bfe\u3057\u3066\u5c02\u9580\u7684\u306a\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u96e3\u8074\u30b1\u30a2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e2d\u8033\u708e\u3092\u7e70\u308a\u8fd4\u3057\u3084\u3059\u3044\u305f\u3081\u3001\u9f13\u819c\u63db\u6c17\u30c1\u30e5\u30fc\u30d6\u7559\u7f6e\u8853\u306a\u3069\u3092\u884c\u3044\u3001\u8074\u529b\u3092\u78ba\u4fdd\u3059\u308b\u3053\u3068\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>4. \u6210\u9577\u30fb\u5185\u5206\u6ccc\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8eab\u9577:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6210\u9577\u66f2\u7dda\u3092\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3057\u3001\u8457\u3057\u3044\u4f4e\u8eab\u9577\u304c\u3042\u308b\u5834\u5408\u306f\u5185\u5206\u6ccc\u5b66\u7684\u8a55\u4fa1\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b21\u5b50\u306e\u598a\u5a20\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u306a\u3069\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08\u8ee2\u5ea7\u306e\u6709\u7121\uff09\u3092\u884c\u3046\u304b\u3069\u3046\u304b\u306b\u3064\u3044\u3066\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u76f8\u8ac7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u672c\u75be\u60a3\u306f\u7a00\u3067\u3059\u304c\u3001\u9069\u5207\u306a\u6cbb\u7642\u3068\u7642\u80b2\u3092\u884c\u3048\u3070\u3001\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u304c\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002\u9577\u671f\u7684\u306a\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u60c5\u5831\u3092\u5f97\u308b\u3053\u3068\u304c\u5927\u5207\u3067\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>20p12.3 microdeletion syndrome\u306f\u300120\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u3001\u7279\u306b\u9aa8\u3084\u9854\u3092\u4f5c\u308bBMP2\u3068\u3044\u3046\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u3042\u3054\u304c\u5c0f\u3055\u3044\u300d\u300c\u53e3\u84cb\u88c2\u304c\u3042\u308b\u300d\u300c\u547c\u5438\u304c\u82e6\u3057\u3044\u300d\u3068\u3044\u3063\u305f\u75c7\u72b6\u3067\u751f\u307e\u308c\u3001\u65b0\u751f\u5150\u671f\u306b\u306f\u547c\u5438\u3084\u30df\u30eb\u30af\u3092\u98f2\u3080\u305f\u3081\u306e\u96c6\u4e2d\u30b1\u30a2\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u9854\u3064\u304d\u304c\u4ed6\u306e\u67d3\u8272\u4f53\u75be\u60a3\uff084p-\uff09\u3068\u4f3c\u3066\u3044\u308b\u305f\u3081\u3001\u8a3a\u65ad\u304c\u3064\u304f\u307e\u3067\u306b\u6642\u9593\u304c\u304b\u304b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u306f\u3001\u624b\u8853\u3084\u547c\u5438\u7ba1\u7406\u306a\u3069\u3001\u6700\u521d\u306f\u5927\u5909\u306a\u3053\u3068\u304c\u591a\u3044\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u3042\u3054\u306e\u9aa8\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u5927\u304d\u304f\u306a\u308a\u3001\u547c\u5438\u3084\u98df\u4e8b\u306e\u554f\u984c\u306f\u5f90\u3005\u306b\u6539\u5584\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u53e3\u84cb\u88c2\u306e\u624b\u8853\u3084\u8a00\u8449\u306e\u7df4\u7fd2\u3001\u305d\u3057\u3066\u767a\u9054\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306f\u7740\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5f62\u6210\u5916\u79d1\u3001\u5c0f\u5150\u79d1\u3001\u8033\u9f3b\u79d1\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u79d1\u306a\u3069\u3001\u591a\u304f\u306e\u5c02\u9580\u5bb6\u304c\u30c1\u30fc\u30e0\u3068\u306a\u3063\u3066\u304a\u5b50\u3055\u3093\u3092\u652f\u3048\u307e\u3059\u3002\u7126\u3089\u305a\u3001\u4e00\u3064\u3072\u3068\u3064\u306e\u8ab2\u984c\u3092\u30af\u30ea\u30a2\u3057\u306a\u304c\u3089\u3001\u304a\u5b50\u3055\u3093\u306e\u6210\u9577\u3092\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>Coukouma, A., et al.<\/strong> (2019). <em>A 20p12.3 microdeletion involving BMP2 contributes to syndromic cleft palate and Pierre Robin sequence.<\/em> American Journal of Medical Genetics Part A.\n<ul class=\"wp-block-list\">\n<li>(\u203b20p12.3\u6b20\u5931\u3068BMP2\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u3001\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\u3084\u53e3\u84cb\u88c2\u306e\u76f4\u63a5\u7684\u306a\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u3001\u8a73\u7d30\u306a\u75c7\u4f8b\u89e3\u6790\u3068\u5171\u306b\u5831\u544a\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Gingras, S., et al.<\/strong> (2022). <em>Genotype-phenotype correlations in 20p12.3 deletion syndrome: A case report and review of literature.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u65b0\u305f\u306a\u75c7\u4f8b\u5831\u544a\u306b\u52a0\u3048\u3001\u904e\u53bb\u306e\u6587\u732e\u3092\u30ec\u30d3\u30e5\u30fc\u3057\u3001BMP2\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u30a6\u30a9\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u69d8\u9854\u8c8c\u3084\u9aa8\u683c\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3059\u30e1\u30ab\u30cb\u30ba\u30e0\uff08\u30d5\u30a7\u30ce\u30b3\u30d4\u30fc\uff09\u306b\u3064\u3044\u3066\u8003\u5bdf\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Barber, J.C., et al.<\/strong> (2013). <em>8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.<\/em> (Contains comparative data on 20p deletions and WHS-like features).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u67d3\u8272\u4f53\u5fae\u7d30\u6b20\u5931\u306b\u304a\u3051\u308b\u9854\u8c8c\u306e\u985e\u4f3c\u6027\u306b\u3064\u3044\u3066\u306e\u8b70\u8ad6\u3092\u542b\u3080\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Riley, B.M., et al.<\/strong> (2007). <em>Impaired FGF signaling contributes to cleft lip and palate.<\/em> (References BMP2 pathways).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u53e3\u5507\u53e3\u84cb\u88c2\u306e\u767a\u751f\u306b\u304a\u3051\u308bBMP\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u306e\u91cd\u8981\u6027\u306b\u3064\u3044\u3066\u306e\u57fa\u790e\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>BMP2<\/em> (Haploinsufficiency score: 3 &#8211; Sufficient evidence).\n<ul class=\"wp-block-list\">\n<li>(\u203bBMP2\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\u30ec\u30d9\u30eb\u3092\u8a55\u4fa1\u3057\u305f\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>20p deletions<\/em> (2020).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u300120\u756a\u67d3\u8272\u4f53\u77ed\u8155\u6b20\u5931\uff08p12\u9818\u57df\u542b\u3080\uff09\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)<\/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-16912","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\/16912","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\/16912\/revisions"}],"predecessor-version":[{"id":17610,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16912\/revisions\/17610"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16912"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}