{"id":16919,"date":"2026-01-21T02:22:49","date_gmt":"2026-01-21T02:22:49","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16919"},"modified":"2026-01-21T02:22:49","modified_gmt":"2026-01-21T02:22:49","slug":"20q11-2-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/20q11-2-microdeletion-syndrome\/","title":{"rendered":"20q11.2 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>20q11.2\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>20q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff0820q11.2 deletion syndrome\uff09<\/li>\n\n\n\n<li>20q11.2\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 20q11.2\uff09<\/li>\n\n\n\n<li>20\u756a\u67d3\u8272\u4f53\u9577\u8155\u90e8\u5206\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>\u95a2\u9023\uff1aGDF5\u95a2\u9023\u9aa8\u683c\u7570\u5f62\u6210<\/li>\n\n\n\n<li>\u95a2\u9023\uff1aBohring-Opitz\u75c7\u5019\u7fa4\uff08ASXL1\u907a\u4f1d\u5b50\u5909\u7570\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u4e00\u3064\u3068\u3057\u3066\u95a2\u9023\u3057\u307e\u3059\u304c\u3001\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u81e8\u5e8a\u50cf\u304c\u7570\u306a\u308a\u307e\u3059\uff08\u5f8c\u8ff0\uff09\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 \u9577\u8155\uff08q\uff0911.2\u9818\u57df\uff0820q11.21 &#8211; q11.23\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e20\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u4ed8\u3051\u6839\u306b\u8fd1\u3044\u300c11.2\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u5468\u8fba\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u5fae\u7d30\u306b\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\u9818\u57df\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\u306e20q11.2\u9818\u57df\u306b\u306f\u8eab\u4f53\u306e\u767a\u9054\u3001\u7279\u306b\u9aa8\u683c\u3084\u795e\u7d4c\u7cfb\u306e\u5f62\u6210\u306b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b20\u5931\u306e\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u7a0b\u5ea6\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3067\u3042\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u8fd1\u5e74\u306e\u7814\u7a76\u306b\u3088\u308a\u3001\u672c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u300c\u6700\u5c0f\u8cac\u4efb\u9818\u57df\uff08SRO: Smallest Region of Overlap\uff09\u300d\u304c\u7d5e\u308a\u8fbc\u307e\u308c\u3066\u304a\u308a\u3001\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u304c\u75c7\u72b6\u5f62\u6210\u306b\u6df1\u304f\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u4e3b\u8981\u306a\u8cac\u4efb\u907a\u4f1d\u5b50\u3068\u305d\u306e\u5f79\u5272\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>GDF5 (Growth Differentiation Factor 5):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u91cd\u8981\u306e\u8cac\u4efb\u907a\u4f1d\u5b50\u306e\u4e00\u3064<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u9aa8\u5f62\u6210\u30bf\u30f3\u30d1\u30af\u8cea\uff08BMP\uff09\u30d5\u30a1\u30df\u30ea\u30fc\u306b\u5c5e\u3057\u3001\u80ce\u5150\u671f\u306b<strong>\u9aa8\u3084\u95a2\u7bc0\u3001\u8edf\u9aa8<\/strong>\u304c\u5f62\u6210\u3055\u308c\u308b\u969b\u306b\u5fc5\u9808\u306e\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u4f4e\u4e0b\u306f\u3001\u672c\u75c7\u5019\u7fa4\u306b\u898b\u3089\u308c\u308b**\u300c\u77ed\u6307\u75c7\uff08\u6307\u304c\u77ed\u3044\uff09\u300d<strong>\u3084<\/strong>\u300c\u56db\u80a2\u306e\u5f62\u6210\u7570\u5e38\u300d**\u306e\u76f4\u63a5\u7684\u306a\u539f\u56e0\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>EPB41L1 (Erythrocyte Membrane Protein Band 4.1 Like 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u795e\u7d4c\u7d30\u80de\uff08\u30cb\u30e5\u30fc\u30ed\u30f3\uff09\u306b\u591a\u304f\u767a\u73fe\u3057\u3001\u30c9\u30fc\u30d1\u30df\u30f3\u53d7\u5bb9\u4f53\u306e\u5b89\u5b9a\u5316\u306a\u3069\u306b\u95a2\u308f\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306f\u3001<strong>\u77e5\u7684\u969c\u5bb3<\/strong>\u3084<strong>\u904b\u52d5\u767a\u9054\u9045\u6ede<\/strong>\u3001<strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/strong>\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SAMHD1 (SAM And HD Domain Containing Deoxynucleoside Triphosphate Triphosphohydrolase 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u514d\u75ab\u7cfb\u3084\u7d30\u80de\u5185\u306e\u4ee3\u8b1d\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u4e21\u65b9\u306e\u907a\u4f1d\u5b50\u304c\u6a5f\u80fd\u4e0d\u5168\u306b\u306a\u308b\u3068\u300cAicardi-Goutieres\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u91cd\u7be4\u306a\u8133\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306a\u7247\u65b9\u306e\u6b20\u5931\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u304c\u3069\u306e\u3088\u3046\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u304b\u306f\u3001\u307e\u3060\u5b8c\u5168\u306b\u306f\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ASXL1 (Additional Sex Combs Like 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u3044\u5834\u5408\uff0820q11.21\u3092\u542b\u3080\u5834\u5408\uff09\u3001\u3053\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><em>ASXL1<\/em>\u907a\u4f1d\u5b50\u306e\u70b9\u5909\u7570\uff08\u7279\u5b9a\u306e\u6587\u5b57\u5316\u3051\uff09\u306f\u3001\u91cd\u5ea6\u306a\u300cBohring-Opitz\u75c7\u5019\u7fa4\u300d\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u304c\u3001\u6b20\u5931\uff08\u907a\u4f1d\u5b50\u304c\u4e38\u3054\u3068\u306a\u3044\u72b6\u614b\uff09\u306e\u5834\u5408\u306f\u3001\u305d\u3053\u307e\u3067\u91cd\u7be4\u306a\u8868\u73fe\u578b\u306b\u306f\u306a\u3089\u305a\u3001\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3084\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u306b\u95a2\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u6975\u3081\u3066\u7a00\uff08Ultra-rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u306b\u304a\u3051\u308b\u8a73\u7d30\u306a\u75c7\u4f8b\u5831\u544a\u6570\u306f\u3001\u73fe\u6642\u70b9\u3067\u6570\u5341\u4f8b\u7a0b\u5ea6\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002Orphanet\uff08\u4e16\u754c\u7684\u306a\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\uff09\u306e\u63a8\u5b9a\u3067\u306f\u3001100\u4e07\u4eba\u306b1\u4eba\u672a\u6e80\uff08&lt;1 \/ 1,000,000\uff09\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u300c\u75be\u60a3\u304c\u5b58\u5728\u3057\u306a\u3044\u300d\u3053\u3068\u3092\u610f\u5473\u3059\u308b\u306e\u3067\u306f\u306a\u304f\u3001\u4ee5\u4e0b\u306e\u7406\u7531\u306b\u3088\u308a\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u691c\u67fb\u306e\u58c1:<\/strong> \u4e00\u822c\u7684\u306a\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u306f\u691c\u51fa\u3067\u304d\u306a\u3044\u307b\u3069\u5fae\u7d30\u306a\u6b20\u5931\u3067\u3042\u308b\u305f\u3081\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u3092\u884c\u308f\u306a\u3044\u3068\u8a3a\u65ad\u3067\u304d\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u75c7\u72b6\u306e\u975e\u7279\u7570\u6027:<\/strong> \u6442\u98df\u969c\u5bb3\u3084\u767a\u9054\u9045\u6ede\u306f\u4ed6\u306e\u591a\u304f\u306e\u75be\u60a3\u3067\u3082\u898b\u3089\u308c\u308b\u305f\u3081\u3001\u7279\u5fb4\u7684\u306a\u300c\u624b\u8db3\u306e\u7570\u5e38\u300d\u306a\u3069\u306b\u6ce8\u76ee\u3057\u306a\u3044\u9650\u308a\u3001\u3053\u306e\u75be\u60a3\u3092\u7591\u3046\u3053\u3068\u304c\u96e3\u3057\u3044\u305f\u3081\u3067\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>20q11.2 microdeletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u96e3\u6cbb\u6027\u306e\u6442\u98df\u969c\u5bb3\u300d\u300c\u6210\u9577\u969c\u5bb3\u300d\u300c\u7279\u5fb4\u7684\u306a\u56db\u80a2\u30fb\u9aa8\u683c\u7570\u5e38\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d**\u306e5\u3064\u304c\u4e2d\u6838\u7684\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u4e73\u5e7c\u5150\u671f\u306e\u300c\u30df\u30eb\u30af\u304c\u98f2\u3081\u306a\u3044\u30fb\u4f53\u91cd\u304c\u5897\u3048\u306a\u3044\u300d\u3068\u3044\u3046\u60a9\u307f\u306f\u3001\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u975e\u5e38\u306b\u5927\u304d\u306a\u8ca0\u62c5\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6442\u98df\u969c\u5bb3\u3068\u6210\u9577\u969c\u5bb3\uff08Feeding difficulties &amp; Failure to thrive\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u3055\u3093\u306e\u591a\u304f\u304c\u3001\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u5f37\u3044\u6442\u98df\u306e\u554f\u984c\u3092\u62b1\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u96e3\u6cbb\u6027\u6442\u98df\u969c\u5bb3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u54fa\u4e73\u529b\u304c\u5f31\u3044\uff08\u5438\u3046\u529b\u304c\u5f31\u3044\uff09\u3001\u56a5\u4e0b\u6a5f\u80fd\uff08\u98f2\u307f\u8fbc\u3080\u529b\uff09\u304c\u672a\u719f\u3001\u3042\u308b\u3044\u306f\u30df\u30eb\u30af\u3092\u62d2\u5426\u3059\u308b\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e00\u822c\u7684\u306a\u300c\u30df\u30eb\u30af\u306e\u98f2\u307f\u304c\u60aa\u3044\u300d\u30ec\u30d9\u30eb\u3092\u8d85\u3048\u3066\u3001\u533b\u7642\u7684\u306a\u4ecb\u5165\u304c\u5fc5\u8981\u306b\u306a\u308b\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u80c3\u98df\u9053\u9006\u6d41\u75c7\uff08GERD\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u98f2\u3093\u3060\u30df\u30eb\u30af\u3092\u983b\u7e41\u306b\u5410\u3044\u3066\u3057\u307e\u3046\u75c7\u72b6\u304c\u9ad8\u983b\u5ea6\u3067\u5408\u4f75\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6210\u9577\u969c\u5bb3\uff08Failure to thrive\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e0a\u8a18\u306e\u6442\u98df\u969c\u5bb3\u306b\u52a0\u3048\u3001\u5b50\u5bae\u5185\u767a\u80b2\u9045\u5ef6\uff08IUGR\uff09\u306e\u5f71\u97ff\u3082\u3042\u308a\u3001\u8eab\u9577\u30fb\u4f53\u91cd\u3068\u3082\u306b\u6210\u9577\u66f2\u7dda\u306e\u7bc4\u56f2\u3092\u4e0b\u56de\u308b<strong>\u4f4e\u8eab\u9577\u30fb\u4f4e\u4f53\u91cd<\/strong>\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7d4c\u7ba1\u6804\u990a\uff08\u9f3b\u30c1\u30e5\u30fc\u30d6\u3084\u80c3\u308d\u3046\uff09\u304c\u5fc5\u8981\u306b\u306a\u308b\u671f\u9593\u304c\u9577\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u56db\u80a2\u30fb\u9aa8\u683c\u306e\u7570\u5e38\uff08Skeletal anomalies\uff09<\/strong><\/p>\n\n\n\n<p><em>GDF5<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u95a2\u9023\u3059\u308b\u3001\u30e6\u30cb\u30fc\u30af\u306a\u7279\u5fb4\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77ed\u6307\u75c7\uff08Brachydactyly\uff09:<\/strong> \u624b\u8db3\u306e\u6307\u3001\u7279\u306b\u4e2d\u7bc0\u9aa8\u306a\u3069\u304c\u77ed\u304f\u3001\u5168\u4f53\u7684\u306b\u6307\u304c\u77ed\u304f\u898b\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u659c\u6307\u75c7\uff08Clinodactyly\uff09:<\/strong> \u7b2c5\u6307\uff08\u5c0f\u6307\uff09\u306a\u3069\u304c\u5185\u5074\u306b\u66f2\u304c\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6307\u306e\u5947\u5f62:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5408\u6307\u75c7<\/strong>\uff08\u6307\u306e\u9593\u304c\u819c\u3067\u3064\u306a\u304c\u3063\u3066\u3044\u308b\uff09\u3001<strong>\u591a\u6307\u75c7<\/strong>\uff08\u6307\u304c\u591a\u3044\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8db3\u306e\u6307\u306e\u91cd\u306a\u308a\uff08Overlapping toes\uff09\u3084\u3001\u5185\u53cd\u8db3\uff08Talipes equinovarus\uff09\u306a\u3069\u306e\u8db3\u306e\u5909\u5f62\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u95a2\u7bc0\u62d8\u7e2e:<\/strong> \u751f\u307e\u308c\u3064\u304d\u95a2\u7bc0\u304c\u786c\u304f\u3001\u958b\u304d\u306b\u304f\u3044\uff08\u591a\u767a\u6027\u95a2\u7bc0\u62d8\u7e2e\uff09\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/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>\u307b\u307c\u5168\u4f8b\u3067\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>\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u958b\u59cb\u306a\u3069\u306e\u904b\u52d5\u9762\u3068\u3001\u8a00\u8449\u306e\u7406\u89e3\u30fb\u8868\u51fa\u306a\u3069\u306e\u7cbe\u795e\u9762\u306e\u4e21\u65b9\u3067\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u72ec\u6b69\uff08\u4e00\u4eba\u6b69\u304d\uff09\u306e\u7372\u5f97\u306f\u30012\u6b73\u301c3\u6b73\u4ee5\u964d\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u304c\u7372\u5f97\u53ef\u80fd\u3067\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\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u91cd\u5ea6\u306e\u969c\u5bb3\u3068\u306a\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u3092\u7372\u5f97\u3057\u3001\u7c21\u5358\u306a\u4f1a\u8a71\u304c\u53ef\u80fd\u306b\u306a\u308b\u304a\u5b50\u3055\u3093\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5168\u8eab\u306e\u7b4b\u8089\u306e\u5f35\u308a\u304c\u5f31\u304f\u3001\u4f53\u304c\u67d4\u3089\u304b\u3044\u72b6\u614b\uff08\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\uff09\u3067\u3059\u3002\u3053\u308c\u304c\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u3084\u6442\u98df\u969c\u5bb3\u306e\u4e00\u56e0\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u307e\u3059\u304c\u3001\u3044\u304f\u3064\u304b\u306e\u5171\u901a\u3057\u305f\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9854\u306e\u5f62:<\/strong> \u9006\u4e09\u89d2\u5f62\u306e\u9854\u7acb\u3061\uff08Triangular face\uff09\u3002<\/li>\n\n\n\n<li><strong>\u76ee:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li>\u773c\u7403\u9665\u51f9\uff08\u76ee\u304c\u5965\u307e\u3063\u3066\u3044\u308b\uff1aDeep-set eyes\uff09\u3002<\/li>\n\n\n\n<li>\u773c\u77bc\u4e0b\u5782\uff08\u307e\u3076\u305f\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li>\u540a\u308a\u4e0a\u304c\u3063\u305f\u76ee\uff08Upslanting palpebral fissures\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9f3b:<\/strong> \u9f3b\u6839\u90e8\u304c\u5e83\u304f\u3001\u9f3b\u7ffc\uff08\u5c0f\u9f3b\uff09\u304c\u4f4e\u5f62\u6210\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong> \u9ad8\u3044\u524d\u984d\u90e8\uff08\u304a\u3067\u3053\u304c\u5e83\u3044\uff09\u3001\u984e\u304c\u5c0f\u3055\u3044\uff08\u5c0f\u984e\u75c7\uff09\u3001\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3002<\/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> \u7db2\u819c\u7570\u5f62\u6210\uff08Retinal dysplasia\uff09\u3001\u659c\u8996\u3001\u4e71\u8996\u306a\u3069\u3002\u7db2\u819c\u306e\u554f\u984c\u306f\u8996\u529b\u306b\u5f71\u97ff\u3059\u308b\u305f\u3081\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069\u306e\u5148\u5929\u6027\u5fc3\u75be\u60a3\u304c\u7a00\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6d88\u5316\u5668:<\/strong> \u4fbf\u79d8\u304c\u9811\u56fa\u3067\u3001\u7ba1\u7406\u304c\u5fc5\u8981\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>20\u756a\u67d3\u8272\u4f53\u9577\u8155\uff0820q11.2\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff08Haploinsufficiency\uff09<\/strong><\/p>\n\n\n\n<p>\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u3001\u305d\u3053\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u304c1\u30bb\u30c3\u30c8\uff08\u7247\u89aa\u5206\uff09\u3057\u304b\u306a\u304f\u306a\u308a\u3001\u4f5c\u3089\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u534a\u5206\u306b\u306a\u3063\u3066\u3057\u307e\u3046\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>GDF5\u4e0d\u8db3\u306e\u5f71\u97ff:<br>\u9aa8\u3084\u8edf\u9aa8\u3092\u4f5c\u308b\u30b7\u30b0\u30ca\u30eb\u304c\u5f31\u304f\u306a\u308b\u305f\u3081\u3001\u6307\u304c\u5341\u5206\u306b\u4f38\u3073\u306a\u304b\u3063\u305f\u308a\u3001\u95a2\u7bc0\u306e\u5f62\u6210\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u304b\u3063\u305f\u308a\u3057\u307e\u3059\u3002\u3053\u308c\u304c\u77ed\u6307\u75c7\u3084\u95a2\u7bc0\u62d8\u7e2e\u306e\u539f\u56e0\u3067\u3059\u3002<\/li>\n\n\n\n<li>EPB41L1\u4e0d\u8db3\u306e\u5f71\u97ff:<br>\u795e\u7d4c\u7d30\u80de\u306e\u6a5f\u80fd\u7dad\u6301\u306b\u5fc5\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u6e1b\u308b\u3053\u3068\u3067\u3001\u8133\u306e\u767a\u9054\u3084\u904b\u52d5\u5236\u5fa1\u306b\u9045\u308c\u304c\u751f\u3058\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u751f\u6a5f\u5e8f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>20q11.2\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u306e<strong>\u5927\u90e8\u5206<\/strong>\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\n\n\n<li>\u4f55\u304b\u598a\u5a20\u4e2d\u306e\u884c\u52d5\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u975e\u5e38\u306b\u4f4e\u3044\uff081%\u672a\u6e80\uff09\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u7a00\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6975\u3081\u3066\u7a00\u3067\u3059\u304c\u3001\u89aa\u304c\u75c7\u72b6\u3092\u6301\u305f\u306a\u3044\uff08\u3042\u308b\u3044\u306f\u6975\u3081\u3066\u8efd\u5fae\u306a\uff09\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3084\u3001\u89aa\u306e\u751f\u6b96\u7d30\u80de\uff08\u7cbe\u5b50\u30fb\u5375\u5b50\uff09\u306e\u4e00\u90e8\u306b\u306e\u307f\u5909\u7570\u304c\u3042\u308b\u300c\u6027\u817a\u30e2\u30b6\u30a4\u30af\u300d\u306e\u53ef\u80fd\u6027\u3082\u5b8c\u5168\u306b\u306f\u5426\u5b9a\u3067\u304d\u307e\u305b\u3093\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\u96e3\u6cbb\u6027\u306e\u6442\u98df\u969c\u5bb3\u300d\u300c\u6307\u306e\u7570\u5e38\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u306e\u7d44\u307f\u5408\u308f\u305b\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u304c\u3001\u81e8\u5e8a\u75c7\u72b6\u3060\u3051\u3067\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306f\u56f0\u96e3\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>\u672c\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b**\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff08\u7b2c\u4e00\u9078\u629e\uff09**\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>20q11.2\u9818\u57df\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u6b20\u5931\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\u3068\u3001<em>GDF5<\/em>\u3084<em>ASXL1<\/em>\u306a\u3069\u306e\u91cd\u8981\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f93\u6765\u306eG\u30d0\u30f3\u30c9\u6cd5\u3067\u306f\u898b\u9003\u3055\u308c\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u305f\u3081\u3001CMA\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30ec\u30f3\u30c8\u30b2\u30f3\u5199\u771f\uff1a\u624b\u8db3\u306e\u6307\u306e\u9aa8\u306e\u5f62\u72b6\uff08\u77ed\u6307\u75c7\u306a\u3069\uff09\u3092\u78ba\u8a8d\u3057\u3001\u8a3a\u65ad\u306e\u88dc\u52a9\u3068\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u982d\u90e8MRI\uff1a\u8133\u306e\u69cb\u9020\u7684\u306a\u7570\u5e38\u304c\u306a\u3044\u304b\u78ba\u8a8d\u3057\u307e\u3059\uff08\u8133\u840e\u7e2e\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6b20\u5931\u3057\u305f\u67d3\u8272\u4f53\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u6210\u9577\u30fb\u767a\u9054\u3092\u652f\u3048\u308b\u305f\u3081\u306e\u5305\u62ec\u7684\u306a\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6804\u990a\u30fb\u6442\u98df\u7ba1\u7406\uff08\u6700\u512a\u5148\u4e8b\u9805\uff09<\/strong><\/p>\n\n\n\n<p>\u4e73\u5e7c\u5150\u671f\u306e\u6700\u5927\u306e\u8ab2\u984c\u306f\u3001\u5341\u5206\u306a\u6804\u990a\u3092\u6442\u308a\u3001\u4f53\u91cd\u3092\u5897\u3084\u3059\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7d4c\u7ba1\u6804\u990a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u53e3\u304b\u3089\u306e\u6442\u53d6\u3060\u3051\u3067\u5fc5\u8981\u91cf\u3092\u6e80\u305f\u305b\u306a\u3044\u5834\u5408\u3001\u9f3b\u304b\u3089\u80c3\u3078\u30c1\u30e5\u30fc\u30d6\u3092\u901a\u3059\uff08\u7d4c\u9f3b\u80c3\u7ba1\uff09\u3084\u3001\u304a\u8179\u306b\u5c0f\u3055\u306a\u7a74\u3092\u958b\u3051\u308b\uff08\u80c3\u308d\u3046\uff09\u306a\u3069\u306e\u65b9\u6cd5\u3092\u7a4d\u6975\u7684\u306b\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u300c\u80c3\u308d\u3046\u300d\u3068\u805e\u304f\u3068\u62b5\u6297\u304c\u3042\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u5b89\u5b9a\u3057\u3066\u6804\u990a\u3092\u6442\u308b\u3053\u3068\u3067\u4f53\u529b\u304c\u3064\u304d\u3001\u30ea\u30cf\u30d3\u30ea\u3084\u767a\u9054\u306b\u3082\u826f\u3044\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u3059\u3002\u56a5\u4e0b\u6a5f\u80fd\u304c\u6210\u9577\u3068\u3068\u3082\u306b\u6539\u5584\u3059\u308c\u3070\u3001\u5c06\u6765\u7684\u306b\u306f\u53e3\u304b\u3089\u98df\u3079\u3089\u308c\u308b\u3088\u3046\u306b\u306a\u308b\u53ef\u80fd\u6027\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9006\u6d41\u5bfe\u7b56:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u80c3\u98df\u9053\u9006\u6d41\u75c7\u306b\u5bfe\u3057\u3001\u30df\u30eb\u30af\u306b\u3068\u308d\u307f\u3092\u3064\u3051\u308b\u3001\u98df\u5f8c\u306e\u4f53\u4f4d\u3092\u5de5\u592b\u3059\u308b\u3001\u80c3\u9178\u3092\u6291\u3048\u308b\u85ac\u3092\u4f7f\u3046\u306a\u3069\u306e\u5bfe\u5fdc\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \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>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u767a\u9054\u9045\u6ede\u306b\u5bfe\u3057\u3001\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>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f53\u5e79\u3092\u935b\u3048\u3001\u5ea7\u308b\u30fb\u6b69\u304f\u3068\u3044\u3063\u305f\u904b\u52d5\u6a5f\u80fd\u306e\u7372\u5f97\u3092\u76ee\u6307\u3057\u307e\u3059\u3002\u95a2\u7bc0\u62d8\u7e2e\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u95a2\u7bc0\u53ef\u52d5\u57df\u8a13\u7df4\u3082\u884c\u3044\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\u3001\u6307\u306e\u5909\u5f62\u306b\u3088\u308b\u4f7f\u3044\u306b\u304f\u3055\u3092\u30ab\u30d0\u30fc\u3059\u308b\u305f\u3081\u306e\u8a13\u7df4\u3084\u3001\u81ea\u52a9\u5177\u306e\u63d0\u6848\u3092\u884c\u3044\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>\u6442\u98df\u56a5\u4e0b\u8a13\u7df4\u3092\u884c\u3046\u3068\u3068\u3082\u306b\u3001\u8a00\u8449\u306e\u767a\u9054\u3092\u4fc3\u3059\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u6574\u5f62\u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u56db\u80a2\u306e\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5185\u53cd\u8db3\u3084\u95a2\u7bc0\u62d8\u7e2e\u304c\u3042\u308b\u5834\u5408\u3001\u88c5\u5177\u7642\u6cd5\u3084\u30ae\u30d7\u30b9\u77ef\u6b63\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u591a\u6307\u75c7\u3084\u5408\u6307\u75c7\u304c\u3042\u308b\u5834\u5408\u3082\u3001\u6a5f\u80fd\u9762\u30fb\u6574\u5bb9\u9762\u3092\u8003\u616e\u3057\u3066\u624b\u8853\u6642\u671f\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u305d\u306e\u4ed6\u306e\u5065\u5eb7\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1:<\/strong> \u7db2\u819c\u7570\u5f62\u6210\u3084\u659c\u8996\u306e\u65e9\u671f\u767a\u898b\u30fb\u6cbb\u7642\u306e\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u773c\u79d1\u691c\u8a3a\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1:<\/strong> \u6b6f\u4e26\u3073\u306e\u554f\u984c\u3084\u866b\u6b6f\u4e88\u9632\u306e\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u6b6f\u79d1\u691c\u8a3a\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u5bb6\u65cf\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308a\u3001\u540c\u3058\u75c5\u6c17\u306e\u5b50\u3092\u6301\u3064\u5bb6\u65cf\u3068\u51fa\u4f1a\u3046\u6a5f\u4f1a\u304c\u5c11\u306a\u3044\u305f\u3081\u3001\u5b64\u7acb\u611f\u3092\u62b1\u304d\u3084\u3059\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u901a\u3058\u3066\u3001\u75be\u60a3\u3078\u306e\u6b63\u3057\u3044\u7406\u89e3\u3092\u6df1\u3081\u308b\u3068\u3068\u3082\u306b\u3001\u5730\u57df\u306e\u7642\u80b2\u30bb\u30f3\u30bf\u30fc\u3084\u798f\u7949\u30b5\u30fc\u30d3\u30b9\uff08\u969c\u5bb3\u5150\u901a\u6240\u652f\u63f4\u306a\u3069\uff09\u3068\u3064\u306a\u304c\u308a\u3001\u30ec\u30b9\u30d1\u30a4\u30c8\uff08\u4f11\u606f\uff09\u30b1\u30a2\u306a\u3069\u3092\u5229\u7528\u3067\u304d\u308b\u4f53\u5236\u3092\u6574\u3048\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>20q11.2 microdeletion syndrome\u306f\u300120\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u3001\u9aa8\u3084\u795e\u7d4c\u306e\u767a\u9054\u306b\u5fc5\u8981\u306a\u907a\u4f1d\u5b50\u304c\u4e0d\u8db3\u3057\u3066\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u30df\u30eb\u30af\u3092\u98f2\u3080\u306e\u304c\u3068\u3066\u3082\u82e6\u624b\u300d\u300c\u624b\u8db3\u306e\u6307\u304c\u5c11\u3057\u7279\u5fb4\u7684\u300d\u300c\u3086\u3063\u304f\u308a\u3068\u3057\u305f\u6210\u9577\u300d\u3068\u3044\u3046\u306e\u304c\u3001\u3053\u306e\u75be\u60a3\u306e\u304a\u5b50\u3055\u3093\u306b\u3088\u304f\u898b\u3089\u308c\u308b\u59ff\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u8d64\u3061\u3083\u3093\u306e\u9803\u306f\u3001\u4f53\u91cd\u304c\u5897\u3048\u305a\u3001\u3054\u5bb6\u65cf\u306f\u300c\u3069\u3046\u3057\u3066\u98f2\u3093\u3067\u304f\u308c\u306a\u3044\u306e\u300d\u3068\u60a9\u307f\u3001\u75b2\u308c\u679c\u3066\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u304a\u5b50\u3055\u3093\u306e\u308f\u304c\u307e\u307e\u3067\u306f\u306a\u304f\u3001\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u306b\u3088\u308b\u300c\u4f53\u8cea\u300d\u306a\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u7642\u306e\u529b\u3092\u501f\u308a\u3066\u6804\u990a\u3092\u3057\u3063\u304b\u308a\u6442\u308c\u308b\u3088\u3046\u306b\u306a\u308c\u3070\u3001\u304a\u5b50\u3055\u3093\u306f\u305d\u306e\u5b50\u306a\u308a\u306e\u30da\u30fc\u30b9\u3067\u78ba\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002\u6b69\u3051\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u308a\u3001\u304a\u8a71\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u308a\u3068\u3001\u5b09\u3057\u3044\u9a5a\u304d\u3092\u305f\u304f\u3055\u3093\u898b\u305b\u3066\u304f\u308c\u308b\u306f\u305a\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u975e\u5e38\u306b\u7a00\u3067\u3059\u304c\u3001\u4e16\u754c\u4e2d\u306e\u7814\u7a76\u8005\u306b\u3088\u3063\u3066\u5c11\u3057\u305a\u3064\u89e3\u660e\u304c\u9032\u3093\u3067\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u6cbb\u533b\u3084\u30bb\u30e9\u30d4\u30b9\u30c8\u3001\u5730\u57df\u306e\u652f\u63f4\u8005\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u500b\u6027\u8c4a\u304b\u306a\u6210\u9577\u3092\u4e00\u7dd2\u306b\u652f\u3048\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Posmyk, R., et al.<\/strong> (2011). <em>Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients.<\/em> American Journal of Medical Genetics Part A.\n<ul class=\"wp-block-list\">\n<li>(\u203b20q11.2\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u60a3\u80056\u540d\u306e\u81e8\u5e8a\u50cf\u3092\u8a73\u7d30\u306b\u5831\u544a\u3057\u3001\u6442\u98df\u969c\u5bb3\u3001\u6210\u9577\u969c\u5bb3\u3001\u7279\u5fb4\u7684\u9854\u8c8c\u3001GDF5\u95a2\u9023\u306e\u56db\u80a2\u7570\u5e38\u306a\u3069\u306e\u5171\u901a\u9805\u3092\u5b9a\u7fa9\u3057\u305f\u3001\u672c\u75c7\u5019\u7fa4\u306e\u57fa\u790e\u3068\u306a\u308b\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Hiraki, Y., et al.<\/strong> (2011). <em>A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty.<\/em> American Journal of Medical Genetics Part A.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u96e3\u6cbb\u6027\u6442\u98df\u969c\u5bb3\u3001\u56db\u80a2\u7570\u5e38\u3001\u7db2\u819c\u7570\u5f62\u6210\u3092\u5448\u3059\u308b\u65e5\u672c\u4eba\u75c7\u4f8b\u306e\u5831\u544a\u3002GDF5\u3092\u542b\u3080\u8cac\u4efb\u9818\u57df\u306b\u3064\u3044\u3066\u8003\u5bdf\u3057\u3066\u3044\u308b\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Loddo, I., et al.<\/strong> (2018). <em>20q11.2 microdeletion syndrome: Clinical and molecular characterization of a new patient and review of the literature.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u904e\u53bb\u306e\u5831\u544a\u4f8b\u3092\u30ec\u30d3\u30e5\u30fc\u3057\u300120q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u7684\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff08\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u3084\u8eab\u4f53\u5408\u4f75\u75c7\u306a\u3069\uff09\u3092\u307e\u3068\u3081\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Uehara, T., et al.<\/strong> (2017). <em>The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features.<\/em> Human Genome Variation.\n<ul class=\"wp-block-list\">\n<li>(\u203bGDF5\u3092\u542b\u30801.2Mb\u306e\u6700\u5c0f\u6b20\u5931\u9818\u57df\u3092\u6301\u3064\u75c7\u4f8b\u3092\u5831\u544a\u3057\u3001\u3053\u306e\u9818\u57df\u306e\u907a\u4f1d\u5b50\uff08GDF5, EPB41L1, SAMHD1\uff09\u304c\u4e3b\u8981\u306a\u75c7\u72b6\u306e\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u7a81\u304d\u6b62\u3081\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Orphanet<\/strong>: <em>20q11.2 microdeletion syndrome<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u4e16\u754c\u7684\u306a\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306b\u304a\u3051\u308b\u75be\u60a3\u6982\u8981\u3068\u75ab\u5b66\u60c5\u5831\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>GDF5<\/em>, <em>ASXL1<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5404\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\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<\/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-16919","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\/16919","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\/16919\/revisions"}],"predecessor-version":[{"id":16920,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16919\/revisions\/16920"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16919"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}