{"id":16865,"date":"2026-01-20T08:32:33","date_gmt":"2026-01-20T08:32:33","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16865"},"modified":"2026-01-20T08:32:33","modified_gmt":"2026-01-20T08:32:33","slug":"1p21-3-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/1p21-3-microdeletion-syndrome\/","title":{"rendered":"1p21.3 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>1p21.3\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>1p21.3\u6b20\u5931\u75c7\u5019\u7fa4\uff081p21.3 deletion syndrome\uff09<\/li>\n\n\n\n<li>1p21.3\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 1p21.3\uff09<\/li>\n\n\n\n<li>MIR137\u95a2\u9023\u77e5\u7684\u969c\u5bb3\uff08MIR137-related intellectual disability\uff09<\/li>\n\n\n\n<li>DPYD\u95a2\u9023\u6b20\u5931\uff08DPYD-related deletion\uff09\u203bDPYD\u907a\u4f1d\u5b50\u3092\u542b\u3080\u5834\u5408<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u75be\u60a3\u540d\u306e\u91cd\u8981\u6027\uff1a<\/p>\n\n\n\n<p>\u67d3\u8272\u4f53\u4e0a\u306e\u300c1p21.3\u300d\u3068\u3044\u3046\u4f4f\u6240\uff08\u30d0\u30f3\u30c9\uff09\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u8133\u306e\u767a\u9054\u306b\u91cd\u8981\u306aMIR137\u907a\u4f1d\u5b50\u3084\u3001\u85ac\u306e\u4ee3\u8b1d\u306b\u95a2\u308f\u308bDPYD\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u304c\u5931\u308f\u308c\u308b\u3053\u3068\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u3063\u3066\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6bd4\u8f03\u7684\u65b0\u3057\u3044\u75be\u60a3\u6982\u5ff5\u3067\u3042\u308a\u3001\u7279\u5b9a\u306e\u300c\u3007\u3007\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u4eba\u540d\u304c\u3064\u3044\u305f\u5225\u540d\u306f\u73fe\u5728\u4e00\u822c\u7684\u3067\u306f\u3042\u308a\u307e\u305b\u3093\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>1\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0921.3\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e1\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306b\u3042\u308b\u300c21.3\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\uff09\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u91cd\u8981\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>1\u756a\u67d3\u8272\u4f53\u306f\u30d2\u30c8\u3067\u6700\u3082\u5927\u304d\u306a\u67d3\u8272\u4f53\u3067\u3059\u304c\u3001\u3053\u306e\u300c1p21.3\u300d\u3068\u3044\u3046\u3054\u304f\u9650\u3089\u308c\u305f\u9818\u57df\u306b\u306f\u3001\u975e\u5e38\u306b\u91cd\u8981\u306a\u6a5f\u80fd\u3092\u6301\u3064\u907a\u4f1d\u5b50\u304c\u5b58\u5728\u3057\u307e\u3059\u3002\u6b20\u5931\u306e\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\uff08\u6570100kb\u301c\u6570Mb\uff09\u304c\u3001\u4e3b\u306b\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u75c7\u72b6\u5f62\u6210\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>MIR137 (MicroRNA 137):<\/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>\u3053\u308c\u306f\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\u3067\u306f\u306a\u304f\u3001\u300c\u30de\u30a4\u30af\u30edRNA\u300d\u3068\u3044\u3046\u3001\u4ed6\u306e\u591a\u304f\u306e\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u8abf\u6574\u3059\u308b\u5c0f\u3055\u306aRNA\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li><em>MIR137<\/em>\u306f\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\uff08\u30cb\u30e5\u30fc\u30ed\u30f3\uff09\u306e\u6210\u9577\u3001\u30b7\u30ca\u30d7\u30b9\u306e\u5f62\u6210\u3001\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u306e\u653e\u51fa\u306a\u3069\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u300c\u6307\u63ee\u8005\u300d\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3059\u308b\u3068\u3001\u8133\u306e\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u5f62\u6210\u304c\u3046\u307e\u304f\u3044\u304b\u305a\u3001\u77e5\u7684\u969c\u5bb3\u3084\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>DPYD (Dihydropyrimidine Dehydrogenase):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6297\u304c\u3093\u5264\uff085-FU\u7cfb\u85ac\u5264\uff09\u306e\u5206\u89e3\u9175\u7d20\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3057\u3066\u3082\u3001\u65e5\u5e38\u751f\u6d3b\u306b\u652f\u969c\u306f\u3042\u308a\u307e\u305b\u3093\uff08\u7121\u75c7\u72b6\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\uff09\u3002<\/li>\n\n\n\n<li>\u3057\u304b\u3057\u3001\u5c06\u6765\u3082\u3057**\u300c5-\u30d5\u30eb\u30aa\u30ed\u30a6\u30e9\u30b7\u30eb\uff085-FU\uff09\u300d\u7cfb\u306e\u6297\u304c\u3093\u5264<strong>\u3092\u4f7f\u7528\u3059\u308b\u3053\u3068\u306b\u306a\u3063\u305f\u5834\u5408\u3001\u85ac\u3092\u5206\u89e3\u3067\u304d\u305a\u306b\u8840\u4e2d\u6fc3\u5ea6\u304c\u5371\u967a\u306a\u30ec\u30d9\u30eb\u307e\u3067\u4e0a\u6607\u3057\u3001\u91cd\u7be4\u306a\u526f\u4f5c\u7528\uff08\u9aa8\u9ac4\u6291\u5236\u3001\u795e\u7d4c\u6bd2\u6027\u306a\u3069\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f<\/strong>\u300c\u751f\u547d\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u533b\u7642\u60c5\u5831\u300d**\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u6975\u3081\u3066\u7a00\uff08Ultra-rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u306b\u304a\u3051\u308b\u8a73\u7d30\u306a\u75c7\u4f8b\u5831\u544a\u6570\u306f\u6570\u5341\u4f8b\u7a0b\u5ea6\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u300c\u767a\u751f\u3057\u3066\u3044\u306a\u3044\u300d\u306e\u3067\u306f\u306a\u304f\u3001\u4ee5\u4e0b\u306e\u7406\u7531\u306b\u3088\u308b\u300c\u904e\u5c11\u8a3a\u65ad\u300d\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u8a3a\u65ad\u6280\u8853:<\/strong> \u5f93\u6765\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u306f\u5fae\u7d30\u306a\u6b20\u5931\u304c\u898b\u9003\u3055\u308c\u3084\u3059\u304f\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u3092\u884c\u308f\u306a\u3044\u3068\u767a\u898b\u3067\u304d\u306a\u3044\u305f\u3081\u3002<\/li>\n\n\n\n<li><strong>\u75c7\u72b6\u306e\u975e\u7279\u7570\u6027:<\/strong> \u7279\u5fb4\u7684\u306a\u5916\u898b\u304c\u5c11\u306a\u3044\u305f\u3081\u3001\u5358\u306a\u308b\u300c\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u300d\u3084\u300c\u81ea\u9589\u75c7\u300d\u3068\u3057\u3066\u8a3a\u65ad\u3055\u308c\u3066\u3044\u308b\u30b1\u30fc\u30b9\u306e\u4e2d\u306b\u3001\u672c\u75be\u60a3\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\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>1p21.3 microdeletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u767a\u9054\u306e\u9045\u308c\u300d\u300c\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u300d\u300c\u8efd\u5ea6\u306e\u8eab\u4f53\u7684\u7279\u5fb4\u300d**\u304c\u4e3b\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u7be4\u306a\u5185\u81d3\u5947\u5f62\u3092\u4f34\u3046\u3053\u3068\u306f\u6bd4\u8f03\u7684\u7a00\u3067\u3059\u304c\u3001\u767a\u9054\u9762\u3067\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u751f\u6daf\u306b\u308f\u305f\u308a\u91cd\u8981\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd\uff08MIR137\u95a2\u9023\uff09<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u3066\u306e\u60a3\u8005\u3055\u3093\u306b\u304a\u3044\u3066\u3001\u4f55\u3089\u304b\u306e\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u5448\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5b66\u7fd2\u306e\u30da\u30fc\u30b9\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308a\u3001\u62bd\u8c61\u7684\u306a\u6982\u5ff5\u306e\u7406\u89e3\u306b\u6642\u9593\u3092\u8981\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u304c\u9855\u8457\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b**\u300c\u8868\u51fa\u6027\u8a00\u8a9e\uff08\u8a71\u3059\u3053\u3068\uff09\u300d**\u306e\u9045\u308c\u304c\u76ee\u7acb\u3061\u3001\u7406\u89e3\u3057\u3066\u3044\u308b\u5185\u5bb9\u306b\u6bd4\u3079\u3066\u3001\u8a00\u8449\u3067\u4f1d\u3048\u308b\u3053\u3068\u304c\u82e6\u624b\u306a\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u6570\u8a9e\u6587\u3067\u306e\u4f1a\u8a71\u306b\u3068\u3069\u307e\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u306e\u7d0430\u301c50%\u4ee5\u4e0a\u306e\u60a3\u8005\u3055\u3093\u306bASD\u306e\u7279\u6027\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8996\u7dda\u304c\u5408\u308f\u306a\u3044\u3001\u793e\u4f1a\u7684\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u56f0\u96e3\u3001\u3053\u3060\u308f\u308a\u884c\u52d5\u3001\u53cd\u5fa9\u884c\u52d5\uff08\u5e38\u540c\u884c\u52d5\uff09\u306a\u3069\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li><em>MIR137<\/em>\u907a\u4f1d\u5b50\u306f\u3001\u7d71\u5408\u5931\u8abf\u75c7\u3084ASD\u306e\u30ea\u30b9\u30af\u907a\u4f1d\u5b50\u3068\u3057\u3066\u3082\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u7cbe\u795e\u795e\u7d4c\u5b66\u7684\u306a\u7279\u6027\u3068\u306e\u95a2\u9023\u304c\u6df1\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\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\u306e\u3088\u3046\u306a\u591a\u52d5\u3001\u885d\u52d5\u6027\u3001\u4e0d\u5b89\u306e\u5f37\u3055\u3001\u5185\u6c17\uff08Shyness\uff09\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. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\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><strong>\u9854\u8c8c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6df1\u3044\u773c\u7aa9\uff08\u76ee\u304c\u5965\u307e\u3063\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li>\u9f3b\u6839\u90e8\u304c\u5e83\u3044\u3001\u307e\u305f\u306f\u9ad8\u3044\u3002<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u306e\u5f62\u306e\u5909\u5f62\u3002<\/li>\n\n\n\n<li>\u8584\u3044\u4e0a\u5507\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u3089\u306e\u7279\u5fb4\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u3001\u76ee\u7acb\u305f\u306a\u304f\u306a\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6210\u9577:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u6642\u306e\u4f53\u91cd\u3084\u8eab\u9577\u306f\u6b63\u5e38\u7bc4\u56f2\u5185\u306e\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u4e00\u90e8\u306e\u60a3\u8005\u3055\u3093\u3067\u306f\u3001**\u904e\u6210\u9577\uff08\u9ad8\u8eab\u9577\u3001\u80a5\u6e80\u50be\u5411\uff09**\u304c\u898b\u3089\u308c\u308b\u3068\u3044\u3046\u5831\u544a\u304c\u3042\u308a\u307e\u3059\uff08\u4ed6\u306e1\u756a\u67d3\u8272\u4f53\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u5bfe\u7167\u7684\u306a\u7279\u5fb4\u3067\u3059\uff09\u3002BMI\u304c\u9ad8\u304f\u306a\u308a\u3084\u3059\u3044\u305f\u3081\u3001\u6804\u990a\u7ba1\u7406\u304c\u5fc5\u8981\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u659c\u8996\u3001\u9060\u8996\u3001\u8fd1\u8996\u306a\u3069\u306e\u5c48\u6298\u7570\u5e38\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. DPYD\u6b20\u5931\u306b\u95a2\u9023\u3059\u308b\u30ea\u30b9\u30af<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u85ac\u7269\u4ee3\u8b1d\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u524d\u8ff0\u306e\u901a\u308a\u3001\u65e5\u5e38\u751f\u6d3b\u3067\u306f\u7121\u75c7\u72b6\u3067\u3059\u304c\u3001\u533b\u7642\u884c\u70ba\u3092\u53d7\u3051\u308b\u969b\u306b\u6975\u3081\u3066\u91cd\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>**DPD\u6b20\u640d\u75c7\uff08Dihydropyrimidine dehydrogenase deficiency\uff09**\u306e\u30ea\u30b9\u30af\u72b6\u614b\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<p>\u983b\u5ea6\u306f\u4f4e\u3044\u3067\u3059\u304c\u3001\u4ee5\u4e0b\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4e73\u5e7c\u5150\u671f\u306e\u4f53\u306e\u67d4\u3089\u304b\u3055\uff09\u3002<\/li>\n\n\n\n<li>\u3066\u3093\u304b\u3093\u767a\u4f5c\u3002<\/li>\n\n\n\n<li>\u8efd\u5ea6\u306e\u9aa8\u683c\u7570\u5e38\uff08\u5074\u5f2f\u75c7\u306a\u3069\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>1\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff081p21.3\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \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>1p21.3\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u306e<strong>\u5927\u591a\u6570<\/strong>\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\uff08\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6642\u3001\u307e\u305f\u306f\u53d7\u7cbe\u76f4\u5f8c\uff09\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u67d3\u8272\u4f53\u306e\u7279\u5b9a\u306e\u90e8\u5206\u304c\u300c\u30b3\u30d4\u30fc\u30df\u30b9\u300d\u3067\u629c\u3051\u843d\u3061\u3066\u3057\u307e\u3063\u305f\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u975e\u5e38\u306b\u4f4e\u3044\uff08\u4e00\u822c\u96c6\u56e3\u3068\u540c\u7a0b\u5ea6\uff09\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u907a\u4f1d\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7a00\u306b\u3001\u89aa\u304c\u540c\u3058\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306e\u75c7\u72b6\u304c\u975e\u5e38\u306b\u8efd\u5ea6\uff08\u8efd\u5ea6\u306e\u5b66\u7fd2\u969c\u5bb3\u3084\u3001\u5358\u306a\u308b\u300c\u500b\u6027\u300d\u3068\u601d\u308f\u308c\u3066\u3044\u308b\u7a0b\u5ea6\uff09\u3067\u3042\u308b\u5834\u5408\u3001\u89aa\u3082\u8a3a\u65ad\u3055\u308c\u3066\u304a\u3089\u305a\u3001\u5b50\u4f9b\u304c\u8a3a\u65ad\u3055\u308c\u305f\u5f8c\u306b\u89aa\u3082\u691c\u67fb\u3092\u3057\u3066\u521d\u3081\u3066\u5224\u660e\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u5b50\u3078\u907a\u4f1d\u3059\u308b\u78ba\u7387\u306f50%\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\uff09\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5b50\u578b\u3068\u8868\u73fe\u578b\u306e\u76f8\u95a2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>MIR137\u306e\u30cf\u30d7\u30ed\u4e0d\u5168:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u795e\u7d4c\u7d30\u80de\u306e\u30b7\u30ca\u30d7\u30b9\u53ef\u5851\u6027\uff08\u5b66\u7fd2\u3084\u8a18\u61b6\u306e\u57fa\u790e\uff09\u304c\u4f4e\u4e0b\u3057\u3001\u77e5\u7684\u969c\u5bb3\u3084ASD\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>DPYD\u306e\u30cf\u30d7\u30ed\u4e0d\u5168:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u85ac\u7269\u4ee3\u8b1d\u9175\u7d20\uff08DPD\uff09\u306e\u6d3b\u6027\u304c\u7d04\u534a\u5206\u306b\u306a\u308a\u307e\u3059\u3002\u901a\u5e38\u306f\u534a\u5206\u3042\u308c\u3070\u751f\u6d3b\u3067\u304d\u307e\u3059\u304c\u3001\u5927\u91cf\u306e\u85ac\u5264\uff08\u6297\u304c\u3093\u5264\uff09\u304c\u5165\u3063\u3066\u304d\u305f\u6642\u306b\u51e6\u7406\u3057\u304d\u308c\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u7279\u5fb4\u7684\u306a\u5916\u898b\u304c\u5c11\u306a\u3044\u305f\u3081\u3001\u81e8\u5e8a\u75c7\u72b6\u3060\u3051\u3067\u8a3a\u65ad\u3059\u308b\u3053\u3068\u306f\u56f0\u96e3\u3067\u3059\u3002\u300c\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u300d\u3068\u3057\u3066\u691c\u67fb\u304c\u9032\u3081\u3089\u308c\u308b\u4e2d\u3067\u767a\u898b\u3055\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\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>1p21.3\u9818\u57df\u306e\u5fae\u7d30\u306a\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>MIR137<\/em>\u3084<em>DPYD<\/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<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u6b20\u5931\u3067\u306f\u306a\u304f\u3001<em>MIR137<\/em>\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u306e\u70b9\u5909\u7570\uff08\u907a\u4f1d\u5b50\u306e\u6587\u5b57\u5316\u3051\uff09\u3067\u3082\u985e\u4f3c\u306e\u75c7\u72b6\u304c\u51fa\u308b\u305f\u3081\u3001CMA\u3067\u7570\u5e38\u304c\u306a\u304b\u3063\u305f\u5834\u5408\u306b\u884c\u308f\u308c\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>\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\u3001\u73fe\u6642\u70b9\u3067\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\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u9ad8\u3081\u308b\u305f\u3081\u306e\u7642\u80b2\u7684\u652f\u63f4\u3001\u305d\u3057\u3066\u5c06\u6765\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2\uff08Early Intervention\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u5f8c\u65e9\u671f\u304b\u3089\u3001\u500b\u3005\u306e\u767a\u9054\u6bb5\u968e\u306b\u5408\u308f\u305b\u305f\u7642\u80b2\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u3092\u9ad8\u3081\u308b\u652f\u63f4\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u3067\u306e\u8868\u73fe\u304c\u82e6\u624b\u306a\u5834\u5408\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u30b5\u30a4\u30f3\u3001AAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09\u3092\u6d3b\u7528\u3057\u3001\u610f\u601d\u4f1d\u9054\u306e\u30d5\u30e9\u30b9\u30c8\u30ec\u30fc\u30b7\u30e7\u30f3\u3092\u8efd\u6e1b\u3057\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\u306e\u6539\u5584\u3084\u3001\u611f\u899a\u904e\u654f\uff08\u7279\u5b9a\u306e\u97f3\u3084\u89e6\u611f\u3078\u306e\u904e\u654f\u3055\uff09\u304c\u3042\u308b\u5834\u5408\u306e\u611f\u899a\u7d71\u5408\u7642\u6cd5\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30bd\u30fc\u30b7\u30e3\u30eb\u30b9\u30ad\u30eb\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\uff08SST\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u306e\u7279\u6027\u306b\u5bfe\u3057\u3001\u96c6\u56e3\u751f\u6d3b\u3067\u306e\u30eb\u30fc\u30eb\u3084\u5bfe\u4eba\u95a2\u4fc2\u306e\u30b9\u30ad\u30eb\u3092\u5b66\u3073\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6559\u80b2\u74b0\u5883\u306e\u8abf\u6574<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u500b\u5225\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u3084ASD\u306e\u7279\u6027\u306b\u5408\u308f\u305b\u3001\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u3084\u901a\u7d1a\u6307\u5c0e\u6559\u5ba4\u306a\u3069\u3001\u5b89\u5fc3\u3057\u3066\u5b66\u3079\u308b\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8996\u899a\u7684\u306a\u652f\u63f4\uff08\u898b\u3066\u308f\u304b\u308b\u30b9\u30b1\u30b8\u30e5\u30fc\u30eb\u306a\u3069\uff09\u3092\u53d6\u308a\u5165\u308c\u308b\u3053\u3068\u3067\u3001\u6d3b\u52d5\u3057\u3084\u3059\u304f\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. DPYD\u6b20\u5931\u306b\u95a2\u3059\u308b\u533b\u5b66\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u85ac\u5264\u30ab\u30eb\u30c6\u3078\u306e\u8a18\u8f09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>DPYD<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u78ba\u8a8d\u3055\u308c\u305f\u5834\u5408\u3001\u5fc5\u305a<strong>\u304a\u85ac\u624b\u5e33<\/strong>\u3084\u30ab\u30eb\u30c6\u306e\u91cd\u8981\u4e8b\u9805\u6b04\u306b**\u300cDPYD\u6b20\u5931\u3042\u308a\uff1a\u30d5\u30eb\u30aa\u30ed\u30a6\u30e9\u30b7\u30eb\u7cfb\u6297\u304c\u3093\u5264\uff085-FU, TS-1, \u30ab\u30da\u30b7\u30bf\u30d3\u30f3\u306a\u3069\uff09\u7981\u5fcc\u307e\u305f\u306f\u8981\u6e1b\u91cf\u300d**\u3068\u8a18\u8f09\u3057\u3066\u304a\u304f\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306f\u5c06\u6765\u3001\u304c\u3093\u6cbb\u7642\u304c\u5fc5\u8981\u306b\u306a\u3063\u305f\u969b\u306b\u3001\u3054\u672c\u4eba\u306e\u547d\u3092\u5b88\u308b\u305f\u3081\u306e\u6975\u3081\u3066\u91cd\u8981\u306a\u60c5\u5831\u3067\u3059\u3002\u3054\u5bb6\u65cf\u304c\u3053\u306e\u60c5\u5831\u3092\u6b63\u3057\u304f\u7406\u89e3\u3057\u3001\u533b\u5e2b\u306b\u4f1d\u3048\u3089\u308c\u308b\u3088\u3046\u306b\u3057\u3066\u304a\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u305d\u306e\u4ed6\u30fb\u5065\u5eb7\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80a5\u6e80\u4e88\u9632:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u904e\u6210\u9577\u3084\u80a5\u6e80\u50be\u5411\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u3001\u5c0f\u5150\u671f\u304b\u3089\u306e\u9069\u5207\u306a\u98df\u7fd2\u6163\u3068\u904b\u52d5\u7fd2\u6163\u306e\u78ba\u7acb\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u30fb\u6b6f\u79d1\u691c\u8a3a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u3092\u53d7\u3051\u3001\u65e9\u671f\u306b\u5bfe\u5fdc\u3057\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\u3084\u3001\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u907a\u4f1d\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u4e0d\u5b89\u304c\u3042\u308b\u5834\u5408\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>\u89aa\u306e\u691c\u67fb\u3092\u884c\u3046\u304b\u3069\u3046\u304b\u306b\u3064\u3044\u3066\u3082\u3001\u30e1\u30ea\u30c3\u30c8\u30fb\u30c7\u30e1\u30ea\u30c3\u30c8\u3092\u542b\u3081\u3066\u8a71\u3057\u5408\u3044\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>1p21.3 microdeletion syndrome\u306f\u30011\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5fae\u7d30\u306b\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u306b\u3001\u8a00\u8449\u306e\u9045\u308c\u3084\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u82e6\u624b\u3055\uff08\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u306e\u7279\u6027\uff09\u3068\u3044\u3063\u305f\u767a\u9054\u9762\u306e\u7279\u5fb4\u304c\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u91cd\u7be4\u306a\u4f53\u306e\u75c5\u6c17\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u306f\u5c11\u306a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u5927\u304d\u306a\u7279\u5fb4\u306f\u3001\u8133\u306e\u6307\u4ee4\u5f79\u3067\u3042\u308bMIR137\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u3067\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u306b\u306a\u308b\u3053\u3068\u3068\u3001\u85ac\u306e\u5206\u89e3\u306b\u95a2\u308f\u308bDPYD\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u3067\u7279\u5b9a\u306e\u304a\u85ac\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3054\u5bb6\u65cf\u306f\u3001\u300c\u5c06\u6765\u3069\u3046\u306a\u308b\u306e\u3060\u308d\u3046\u300d\u3068\u4e0d\u5b89\u306b\u601d\u308f\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u65e9\u671f\u304b\u3089\u7642\u80b2\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u8a00\u8449\u3084\u793e\u4f1a\u6027\u306f\u7740\u5b9f\u306b\u4f38\u3073\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u300c\u7279\u5b9a\u306e\u304a\u85ac\u306b\u5f31\u3044\u300d\u3068\u3044\u3046\u4f53\u8cea\u3092\u3042\u3089\u304b\u3058\u3081\u77e5\u308b\u3053\u3068\u304c\u3067\u304d\u305f\u306e\u306f\u3001\u3042\u308b\u610f\u5473\u3067\u300c\u5c06\u6765\u306e\u30ea\u30b9\u30af\u3092\u56de\u907f\u3067\u304d\u305f\u300d\u3068\u524d\u5411\u304d\u306b\u6349\u3048\u308b\u3053\u3068\u3082\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306e\u30da\u30fc\u30b9\u306b\u5408\u308f\u305b\u305f\u6559\u80b2\u74b0\u5883\u3092\u6574\u3048\u3001\u533b\u7642\u60c5\u5831\u3092\u9069\u5207\u306b\u7ba1\u7406\u3057\u3066\u3044\u304f\u3053\u3068\u3067\u3001\u5065\u5eb7\u3067\u8c4a\u304b\u306a\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u533b\u7642\u30fb\u798f\u7949\u306e\u5c02\u9580\u5bb6\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u3093\u3067\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>Willemsen, M.H., et al.<\/strong> (2011). <em>Chromosome 1p21.3 microdeletions comprising the MIR137 gene in individuals with intellectual disability.<\/em> Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b1p21.3\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u3001MIR137\u907a\u4f1d\u5b50\u304c\u77e5\u7684\u969c\u5bb3\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308b\u3053\u3068\u3092\u521d\u3081\u3066\u660e\u78ba\u306b\u793a\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Tucci, V., et al.<\/strong> (2016). <em>MicroRNA-137 Loss of Function Causes Repetitive Behavior and Deregulation of Synaptic Plasticity Proteins.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bMIR137\u306e\u6a5f\u80fd\u55aa\u5931\u304c\u3001\u81ea\u9589\u75c7\u69d8\u884c\u52d5\uff08\u53cd\u5fa9\u884c\u52d5\u306a\u3069\uff09\u3084\u30b7\u30ca\u30d7\u30b9\u6a5f\u80fd\u306b\u3069\u306e\u3088\u3046\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u304b\u3092\u89e3\u660e\u3057\u305f\u57fa\u790e\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Carter, M.T., et al.<\/strong> (2011). <em>Hemizygous deletions of 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder or intellectual disability.<\/em> Clinical Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b1p21.3\u6b20\u5931\u60a3\u8005\u306b\u304a\u3051\u308bDPYD\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3068\u3001\u81e8\u5e8a\u7684\u7279\u5fb4\uff08ASD\u3001ID\uff09\u304a\u3088\u3073\u85ac\u7406\u907a\u4f1d\u5b66\u7684\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u5831\u544a\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Amorim, M.R., et al.<\/strong> (2017). <em>1p21.3 deletion involving DPYD and MIR137 genes in a patient with autism spectrum disorder and obesity.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bMIR137\u3068DPYD\u3092\u542b\u3080\u6b20\u5931\u3092\u6301\u3064\u60a3\u8005\u306b\u304a\u3051\u308b\u3001ASD\u3068\u80a5\u6e80\u306e\u5408\u4f75\u306b\u3064\u3044\u3066\u306e\u75c7\u4f8b\u5831\u544a\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>MIR137<\/em> (Haploinsufficiency score: 3 &#8211; Sufficient evidence), <em>DPYD<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203bMIR137\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>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>1p21.3 microdeletions<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306e\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-16865","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\/16865","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\/16865\/revisions"}],"predecessor-version":[{"id":16868,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16865\/revisions\/16868"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16865"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}