{"id":17047,"date":"2026-01-21T05:31:24","date_gmt":"2026-01-21T05:31:24","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17047"},"modified":"2026-01-21T05:31:24","modified_gmt":"2026-01-21T05:31:24","slug":"3q21-duplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/3q21-duplication-syndrome\/","title":{"rendered":"3q21 duplication syndrome"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>3q21\u91cd\u8907\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>3q21\u5fae\u7d30\u91cd\u8907\u75c7\u5019\u7fa4\uff083q21 microduplication syndrome\uff09<\/li>\n\n\n\n<li>3q21\u30c8\u30ea\u30bd\u30df\u30fc\uff08Trisomy 3q21\uff09<\/li>\n\n\n\n<li>\u90e8\u5206\u7684\u30c8\u30ea\u30bd\u30df\u30fc3q\uff08Partial trisomy 3q\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b3q21\u304b\u3089\u672b\u7aef\uff08qter\uff09\u307e\u3067\u3092\u542b\u3080\u5e83\u7bc4\u56f2\u306a\u91cd\u8907\u306e\u5834\u5408\u3001\u3053\u306e\u3088\u3046\u306b\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>3q\u91cd\u8907\u75c7\u5019\u7fa4\uff08Duplication 3q syndrome\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u30b3\u30eb\u30cd\u30ea\u30a2\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\u75c7\u5019\u7fa4\uff08Cornelia de Lange syndrome; CdLS\uff09\u69d8\u8868\u73fe\u578b\n<ul class=\"wp-block-list\">\n<li>\u203b3q21-q26\u9818\u57df\u306e\u91cd\u8907\u306f\u3001\u591a\u6bdb\u3084\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u304cCdLS\u306b\u9177\u4f3c\u3059\u308b\u305f\u3081\u3001\u9451\u5225\u304c\u5fc5\u8981\u306a\u75be\u60a3\u3068\u3057\u3066\u6319\u3052\u3089\u308c\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>3\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0921\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e3\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u4e2d\u9593\u4ed8\u8fd1\u306b\u3042\u308b\u300c21\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u91cd\u8907\uff08\u30b3\u30d4\u30fc\u6570\u304c\u901a\u5e38\u306e2\u672c\u304b\u30893\u672c\u306b\u5897\u52a0\uff09\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3011<\/p>\n\n\n\n<p>3q21\u9818\u57df\u306e\u91cd\u8907\u306b\u306f\u3001\u4e3b\u306b\u4ee5\u4e0b\u306e2\u3064\u306e\u30d1\u30bf\u30fc\u30f3\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u4e2d\u9593\u91cd\u8907\uff08Interstitial duplication\uff09\uff1a<\/strong> 3q21\u9818\u57df\uff08\u4f8b\u3048\u30703q21.1\u304b\u30893q21.3\u306a\u3069\uff09\u3060\u3051\u304c\u5c40\u6240\u7684\u306b\u91cd\u8907\u3057\u3066\u3044\u308b\u30bf\u30a4\u30d7\u3002<\/li>\n\n\n\n<li><strong>\u672b\u7aef\u91cd\u8907\uff08Terminal duplication\uff09\u306e\u4e00\u90e8\uff1a<\/strong> 3q21\u304b\u3089\u67d3\u8272\u4f53\u306e\u7aef\uff08qter\uff09\u307e\u3067\u304c\u9023\u7d9a\u3057\u3066\u91cd\u8907\u3057\u3066\u3044\u308b\u300c3q\u91cd\u8907\u75c7\u5019\u7fa4\u300d\u306e\u59cb\u70b9\u3068\u306a\u308b\u30bf\u30a4\u30d7\u3002\u3053\u308c\u306f\u3001\u89aa\u306e\u67d3\u8272\u4f53\u8ee2\u5ea7\u306b\u7531\u6765\u3059\u308b\u5834\u5408\u306b\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u767a\u751f\u3084\u7d30\u80de\u5206\u5316\u306b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u591a\u6570\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u305d\u308c\u3089\u304c\u904e\u5270\u306b\u306a\u308b\uff08\u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3\uff09\u3053\u3068\u3067\u3001\u8eab\u4f53\u3084\u8133\u306e\u767a\u9054\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3068\u95a2\u9023\u6027\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>GATA2 (GATA Binding Protein 2):<\/strong> 3q21.3\u306b\u4f4d\u7f6e\u3057\u307e\u3059\u3002\u8840\u6db2\u7d30\u80de\u306e\u7523\u751f\u3084\u8840\u7ba1\u3001\u5185\u8033\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u91cd\u8981\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3084\u6b20\u5931\u306f\u514d\u75ab\u4e0d\u5168\u75c7\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u304c\u3001\u91cd\u8907\u306b\u3088\u308b\u904e\u5270\u767a\u73fe\u3082\u9020\u8840\u30b7\u30b9\u30c6\u30e0\u3084\u7279\u5b9a\u306e\u7d44\u7e54\u767a\u751f\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>MME (Membrane Metalloendopeptidase):<\/strong> \u795e\u7d4c\u6a5f\u80fd\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3001\u91cd\u8907\u7bc4\u56f2\u306b\u542b\u307e\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>CdLS\u95a2\u9023\u9818\u57df:<\/strong> 3q21-q26\u9818\u57df\u306e\u91cd\u8907\u304c\u300c\u30b3\u30eb\u30cd\u30ea\u30a2\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\u75c7\u5019\u7fa4\u300d\u306b\u4f3c\u305f\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304b\u3089\u3001\u3053\u306e\u9818\u57df\u306b\u306f\u9854\u9762\u5f62\u6210\u3084\u6bdb\u9aea\u306e\u6210\u9577\u5236\u5fa1\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\uff08\u30b3\u30d2\u30fc\u30b7\u30f3\u8907\u5408\u4f53\u95a2\u9023\u306a\u3069\uff09\u304c\u5b58\u5728\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/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>\u7a00\uff08Rare\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>\u67d3\u8272\u4f53\u7570\u5e38\u5168\u4f53\u306e\u4e2d\u3067\u306f\u30013\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u90e8\u5206\u91cd\u8907\u306f\u6bd4\u8f03\u7684\u3088\u304f\u5831\u544a\u3055\u308c\u308b\uff08\u4e16\u754c\u3067\u6570\u767e\u4f8b\u4ee5\u4e0a\uff09\u90e8\u985e\u306b\u5165\u308a\u307e\u3059\u304c\u30013q21\u306b\u9650\u5c40\u3057\u305f\u91cd\u8907\u306f\u7a00\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u300c3q21\u304b\u3089\u672b\u7aef\u307e\u3067\u300d\u306e\u91cd\u8907\u3092\u542b\u3081\u308b\u3068\u3001\u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc\u75c7\u5019\u7fa4\u3068\u3057\u3066\u4e00\u5b9a\u306e\u8a8d\u77e5\u5ea6\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u306e\u4e0d\u5747\u8861\u8ee2\u5ea7\u3068\u3057\u3066\u751f\u3058\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u305d\u306e\u5834\u5408\u306f\u5bb6\u7cfb\u5185\u306b\u8907\u6570\u4eba\u767a\u751f\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6027\u5225\u306b\u3088\u308b\u767a\u751f\u983b\u5ea6\u306e\u5dee\u306f\u306a\u304f\u3001\u7537\u5150\u306b\u3082\u5973\u5150\u306b\u3082\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>3q21 duplication syndrome\u306e\u81e8\u5e8a\u50cf\u306f\u3001**\u300c\u591a\u6bdb\u30fb\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u300c\u91cd\u5ea6\u306e\u7cbe\u795e\u767a\u9054\u9045\u6ede\u300d\u300c\u5185\u81d3\u5947\u5f62\u300d\u304c3\u5927\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u300c\u30b3\u30eb\u30cd\u30ea\u30a2\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\u75c7\u5019\u7fa4\uff08CdLS\uff09\u300d**\u306b\u4f3c\u305f\u5916\u898b\uff08\u591a\u6bdb\u3001\u3064\u306a\u304c\u308a\u7709\u3001\u9577\u3044\u307e\u3064\u6bdb\u306a\u3069\uff09\u3092\u793a\u3059\u3053\u3068\u304c\u3001\u8a3a\u65ad\u306e\u5927\u304d\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\u30fb\u76ae\u819a\u6240\u898b<\/strong><\/p>\n\n\n\n<p>\u4ed6\u306e\u67d3\u8272\u4f53\u7570\u5e38\u3068\u6bd4\u8f03\u3057\u3066\u3082\u3001\u975e\u5e38\u306b\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u3092\u793a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u591a\u6bdb\u75c7\uff08Hypertrichosis\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5168\u8eab\u306e\u6bdb\u304c\u6fc3\u3044\u3001\u80cc\u4e2d\u3084\u984d\u306b\u7523\u6bdb\u304c\u591a\u3044\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7709\u30fb\u76ee\u306e\u7279\u5fb4\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u9023\u7709\uff08Synophrys\uff09\uff1a<\/strong> \u5de6\u53f3\u306e\u7709\u6bdb\u304c\u3064\u306a\u304c\u3063\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li>\u6fc3\u3044\u7709\u6bdb\u3001\u9577\u3044\u307e\u3064\u6bdb\u3002<\/li>\n\n\n\n<li>\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3001\u773c\u77bc\u88c2\u659c\u4e0b\uff08\u30bf\u30ec\u76ee\uff09\u3001\u773c\u77bc\u4e0b\u5782\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9f3b\u30fb\u53e3\u306e\u7279\u5fb4\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9f3b\u6881\u304c\u5e83\u3044\u3001\u9f3b\u5148\u304c\u4e0a\u3092\u5411\u3044\u3066\u3044\u308b\uff08\u77ed\u9f3b\uff09\u3002<\/li>\n\n\n\n<li>\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\uff09\u304c\u9577\u3044\u3002<\/li>\n\n\n\n<li>\u8584\u3044\u4e0a\u5507\u3001\u53e3\u89d2\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\uff08\u3078\u306e\u5b57\u53e3\uff09\u3002<\/li>\n\n\n\n<li>\u5c0f\u984e\u75c7\uff08\u3042\u3054\u304c\u5c0f\u3055\u3044\uff09\u3001\u53e3\u84cb\u88c2\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8033\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u4f4d\u4ed8\u7740\u8033\uff08\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\uff09\u3001\u8033\u4ecb\u306e\u5909\u5f62\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u91cd\u8907\u7bc4\u56f2\u304c\u5e83\u3044\u307b\u3069\u3001\u75c7\u72b6\u306f\u91cd\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li>3q21\u306b\u9650\u5c40\u3057\u305f\u5c0f\u3055\u306a\u91cd\u8907\u3067\u3042\u308c\u3070\u8efd\u5ea6\u306e\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u304c\u30013q21-qter\u306e\u3088\u3046\u306a\u5927\u304d\u306a\u91cd\u8907\u3067\u306f\u91cd\u5ea6\u3068\u306a\u308a\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u652f\u63f4\u304c\u5fc5\u8981\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\uff1a<\/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\u767a\u9054\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b69\u884c\u7372\u5f97\u5f8c\u3082\u3001\u30d0\u30e9\u30f3\u30b9\u304c\u60aa\u304b\u3063\u305f\u308a\u3001\u4e0d\u5668\u7528\u3055\u304c\u6b8b\u3063\u305f\u308a\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\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u7406\u89e3\u30fb\u8868\u51fa\u3068\u3082\u306b\u9045\u308c\u307e\u3059\u3002\u767a\u8a9e\u304c\u306a\u3044\uff08Non-verbal\uff09\u30b1\u30fc\u30b9\u3084\u3001\u8eab\u632f\u308a\u3084\u5358\u8a9e\u3067\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u4e2d\u5fc3\u3068\u306a\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u52d5\u3001\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u69d8\u306e\u7279\u5fb4\uff08\u3053\u3060\u308f\u308a\u3001\u5e38\u540c\u884c\u52d5\uff09\u3001\u81ea\u50b7\u884c\u70ba\u3001\u653b\u6483\u6027\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u8eab\u4f53\u7684\u6210\u9577\u30fb\u9aa8\u683c<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b50\u5bae\u5185\u767a\u80b2\u9045\u5ef6\uff08IUGR\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u6642\u306e\u4f53\u91cd\u304c\u5c0f\u3055\u3081\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6210\u9577\u969c\u5bb3\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u5f8c\u3082\u4f53\u91cd\u5897\u52a0\u4e0d\u826f\u3084\u4f4e\u8eab\u9577\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u6b20\u5931\u75c7\u5019\u7fa4\uff083p-\u306a\u3069\uff09\u306b\u6bd4\u3079\u308b\u3068\u3001\u4f53\u683c\u306f\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u3066\u3044\u308b\u3001\u3042\u308b\u3044\u306f\u5e73\u5747\u7684\u306a\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u56db\u80a2\u306e\u7570\u5e38\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u8db3\u304c\u5c0f\u3055\u3044\u3002<\/li>\n\n\n\n<li><strong>\u77ed\u6307\u75c7\uff08Brachydactyly\uff09\uff1a<\/strong> \u6307\u304c\u77ed\u3044\u3002<\/li>\n\n\n\n<li>\u5074\u5f2f\u75c7\u3084\u95a2\u7bc0\u62d8\u7e2e\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5408\u4f75\u75c7\uff08\u5185\u81d3\u30fb\u611f\u899a\u5668\uff09<\/strong><\/p>\n\n\n\n<p>\u751f\u547d\u4e88\u5f8c\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u5408\u4f75\u75c7\u304c\u542b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3\uff08\u7d0440\u301c50%\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u3001\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09\u3001\u52d5\u8108\u7ba1\u958b\u5b58\u75c7\uff08PDA\uff09\u3001\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u306a\u3069\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306e\u5408\u4f75\u7387\u304c\u9ad8\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u814e\u30fb\u6ccc\u5c3f\u5668\u7cfb\uff08\u7d0430%\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6c34\u814e\u75c7\u3001\u814e\u4f4e\u5f62\u6210\u3001\u56a2\u80de\u814e\u3002<\/li>\n\n\n\n<li>\u7537\u5150\u3067\u306f\u505c\u7559\u7cbe\u5de3\u3001\u5c3f\u9053\u4e0b\u88c2\u3001\u5c0f\u9670\u830e\u306a\u3069\u304c\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u75be\u60a3\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7dd1\u5185\u969c\u3001\u767d\u5185\u969c\u3001\u659c\u8996\u3001\u773c\u632f\u3001\u5c0f\u773c\u7403\u75c7\u306a\u3069\u3001\u8996\u529b\u306b\u95a2\u308f\u308b\u7570\u5e38\u304c\u9ad8\u3044\u983b\u5ea6\u3067\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u65e9\u671f\u306e\u773c\u79d1\u691c\u8a3a\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u96e3\u8074\u3001\u6d88\u5316\u7ba1\u5947\u5f62\uff08\u8178\u56de\u8ee2\u7570\u5e38\u306a\u3069\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>3\u756a\u67d3\u8272\u4f53\u9577\u8155\uff083q21\uff09\u3092\u542b\u3080\u9818\u57df\u306e\u91cd\u8907<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f\u306e\u5206\u985e<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u3001\u767a\u751f\u6a5f\u5e8f\u306e\u7279\u5b9a\u306f\u3001\u6b21\u5b50\u306e\u518d\u767a\u30ea\u30b9\u30af\u3092\u77e5\u308b\u4e0a\u3067\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5bb6\u65cf\u6027\uff08\u89aa\u306e\u8ee2\u5ea7\u7531\u6765\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u983b\u5ea6\u304c\u9ad8\u3044\u30d1\u30bf\u30fc\u30f3\u3067\u3059\u3002<\/strong><\/li>\n\n\n\n<li>\u89aa\u306e\u3069\u3061\u3089\u304b\u304c**\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d**\uff083\u756a\u67d3\u8272\u4f53\u3068\u4ed6\u306e\u67d3\u8272\u4f53\u306e\u9593\u3067\u3001\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u304c\u907a\u4f1d\u5b50\u306e\u91cf\u306f\u6b63\u5e38\uff09\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u81ea\u8eab\u306f\u5065\u5eb7\u3067\u3059\u304c\u3001\u751f\u6b96\u7d30\u80de\uff08\u7cbe\u5b50\u30fb\u5375\u5b50\uff09\u304c\u4f5c\u3089\u308c\u308b\u969b\u306b\u67d3\u8272\u4f53\u306e\u914d\u5206\u304c\u30a2\u30f3\u30d0\u30e9\u30f3\u30b9\u306b\u306a\u308a\u3001\u5b50\u306b\u300c3q21\u90e8\u5206\u306e\u91cd\u8907\uff08\u3068\u3001\u76f8\u624b\u306e\u67d3\u8272\u4f53\u306e\u6b20\u5931\uff09\u300d\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u306a\u3069\uff09\u3067\u89aa\u306e\u8ee2\u5ea7\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3068\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u3084\u3001\u304d\u3087\u3046\u3060\u3044\u30fb\u89aa\u65cf\u3078\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u30013q21\u9818\u57df\u304c\u91cd\u8907\u3057\u3066\u3057\u307e\u3046\u30b1\u30fc\u30b9\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4f4e\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Gene Dosage Effect\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>3q21\u9818\u57df\u306e\u907a\u4f1d\u5b50\u304c3\u30b3\u30d4\u30fc\uff081.5\u500d\uff09\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u904e\u5270\u306b\u4f5c\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b\u3001\u9854\u9762\u5f62\u6210\u3084\u8133\u795e\u7d4c\u7cfb\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u308b\u3053\u3068\u304c\u3001CdLS\u69d8\u9854\u8c8c\u3084\u77e5\u7684\u969c\u5bb3\u306e\u76f4\u63a5\u7684\u306a\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u91cd\u8907\u7bc4\u56f2\u304c\u5e83\u3044\uff083q21-qter\uff09\u5834\u5408\u3001<em>SOX2<\/em>\uff083q26.33\u306b\u4f4d\u7f6e\u3059\u308b\u91cd\u8981\u907a\u4f1d\u5b50\uff09\u306a\u3069\u3082\u91cd\u8907\u306b\u542b\u307e\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u3053\u308c\u306b\u3088\u308a\u773c\u7403\u7570\u5e38\u306a\u3069\u306e\u75c7\u72b6\u304c\u4fee\u98fe\u3055\u308c\u307e\u3059\u3002<\/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\u591a\u6bdb\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u300c\u5fc3\u75be\u60a3\u300d\u306e\u7d44\u307f\u5408\u308f\u305b\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u304c\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u67d3\u8272\u4f53\u691c\u67fb\u304c\u5fc5\u8981\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\uff1a<\/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>3q21\u9818\u57df\u306e\u91cd\u8907\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\uff08bp\u5358\u4f4d\uff09\u3068\u3001\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5358\u306a\u308b3q21\u306e\u91cd\u8907\u306a\u306e\u304b\u3001\u4ed6\u306e\u67d3\u8272\u4f53\u306e\u6b20\u5931\u3092\u4f34\u3046\uff08\u8ee2\u5ea7\u7531\u6765\u306e\uff09\u4e0d\u5747\u8861\u306a\u306e\u304b\u3092\u8a73\u7d30\u306b\u5206\u6790\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>G\u30d0\u30f3\u30c9\u67d3\u8272\u4f53\u691c\u67fb\uff08\u6838\u578b\u5206\u6790\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>3q21\u3092\u542b\u3080\u5927\u304d\u306a\u91cd\u8907\uff083q21-qter\u306a\u3069\uff09\u306e\u5834\u5408\u3001\u9855\u5fae\u93e1\u306b\u3088\u308b\u3053\u306e\u691c\u67fb\u3067\u3082\u8a3a\u65ad\u53ef\u80fd\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u8981:<\/strong> \u8ee2\u5ea7\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u3001<strong>\u4e21\u89aa\u306eG\u30d0\u30f3\u30c9\u691c\u67fb<\/strong>\u304c\u5f37\u304f\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u691c\u67fb\uff08\u30a8\u30b3\u30fc\u30fbMRI\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u81d3\u3001\u814e\u81d3\u3001\u8133\u306e\u69cb\u9020\u7570\u5e38\u3092\u30c1\u30a7\u30c3\u30af\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\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>\u91cd\u8907\u3057\u305f\u67d3\u8272\u4f53\u3092\u5143\u306b\u623b\u3059\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u5408\u4f75\u75c7\u306b\u5bfe\u3059\u308b\u5916\u79d1\u7684\u30fb\u5185\u79d1\u7684\u6cbb\u7642\u3068\u3001\u767a\u9054\u3092\u4fc3\u3059**\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09**\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5408\u4f75\u75c7\u306e\u7ba1\u7406\uff08\u751f\u547d\u4e88\u5f8c\u306e\u6539\u5584\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3\u306e\u6cbb\u7642:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069\u306e\u5fc3\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u3001\u85ac\u7269\u7642\u6cd5\u306b\u3088\u308b\u5fc3\u4e0d\u5168\u7ba1\u7406\u3084\u3001\u624b\u8853\u306b\u3088\u308b\u4fee\u5fa9\u3092\u884c\u3044\u307e\u3059\u3002\u5faa\u74b0\u5668\u5c02\u9580\u533b\u306b\u3088\u308b\u5b9a\u671f\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u7684\u6cbb\u7642:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7dd1\u5185\u969c\u3084\u767d\u5185\u969c\u306f\u3001\u653e\u7f6e\u3059\u308b\u3068\u5931\u660e\u306b\u3064\u306a\u304c\u308b\u305f\u3081\u3001\u65e9\u671f\u767a\u898b\u30fb\u65e9\u671f\u6cbb\u7642\uff08\u70b9\u773c\u3001\u624b\u8853\uff09\u304c\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u814e\u30fb\u6ccc\u5c3f\u5668:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c3f\u8def\u611f\u67d3\u75c7\u306e\u4e88\u9632\u3084\u3001\u505c\u7559\u7cbe\u5de3\u306e\u624b\u8853\u306a\u3069\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\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>\u8a3a\u65ad\u5f8c\u3001\u3067\u304d\u308b\u3060\u3051\u65e9\u671f\u304b\u3089\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u306e\u30d0\u30e9\u30f3\u30b9\u3092\u6574\u3048\u3001\u304a\u5ea7\u308a\u3084\u6b69\u884c\u306a\u3069\u306e\u7c97\u5927\u904b\u52d5\u306e\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\u3092\u6539\u5584\u3057\u3001\u98df\u4e8b\u3084\u7740\u66ff\u3048\u306a\u3069\u306e\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\uff08ADL\uff09\u306e\u81ea\u7acb\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u500b\u3005\u306e\u7406\u89e3\u5ea6\u306b\u5408\u308f\u305b\u305f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002\u7d75\u30ab\u30fc\u30c9\u3084\u30b5\u30a4\u30f3\u306e\u6d3b\u7528\u3082\u6709\u52b9\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6559\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7279\u5225\u652f\u63f4\u5b66\u6821\u3084\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u3001\u304a\u5b50\u3055\u3093\u306e\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u6559\u80b2\u74b0\u5883\u3092\u6574\u3048\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5065\u5eb7\u7ba1\u7406\u30fb\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b9a\u671f\u7684\u306a\u5168\u8eab\u30c1\u30a7\u30c3\u30af:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6210\u9577\uff08\u8eab\u9577\u30fb\u4f53\u91cd\uff09\u306e\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3002<\/li>\n\n\n\n<li>\u8996\u529b\u30fb\u8074\u529b\u306e\u5b9a\u671f\u691c\u67fb\u3002<\/li>\n\n\n\n<li>\u6b6f\u79d1\u691c\u8a3a\uff08\u6b6f\u4e26\u3073\u3084\u866b\u6b6f\u306e\u30b1\u30a2\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u3082\u91cd\u8981\u306a\u30d7\u30ed\u30bb\u30b9\u306e\u4e00\u3064\u3067\u3059\u3002<\/strong><\/li>\n\n\n\n<li><strong>\u89aa\u306e\u691c\u67fb:<\/strong> \u89aa\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u3092\u6301\u3063\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u3067\u3001\u6b21\u5b50\u306e\u30ea\u30b9\u30af\u304c\u5927\u304d\u304f\u5909\u308f\u308a\u307e\u3059\uff08\u6570%\u301c\u6570\u5341%\uff09\u3002<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u3078\u306e\u652f\u63f4:<\/strong> \u89aa\u65cf\u5185\u306b\u540c\u3058\u8ee2\u5ea7\u3092\u6301\u3064\u65b9\u304c\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u5bb6\u7cfb\u56f3\u3092\u4f5c\u6210\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u89aa\u65cf\u3078\u306e\u60c5\u5831\u63d0\u4f9b\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5c06\u6765\u306e\u898b\u901a\u3057:<\/strong> \u75c7\u72b6\u306e\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u305f\u3081\u3001\u9577\u671f\u7684\u306a\u751f\u6d3b\u306e\u30a4\u30e1\u30fc\u30b8\u3084\u3001\u5229\u7528\u3067\u304d\u308b\u798f\u7949\u5236\u5ea6\u306b\u3064\u3044\u3066\u60c5\u5831\u63d0\u4f9b\u3092\u53d7\u3051\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>3q21 duplication syndrome\u306f\u30013\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u91cd\u8907\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u304a\u5b50\u3055\u3093\u306f\u3001\u30ad\u30ea\u30c3\u3068\u3057\u305f\u6fc3\u3044\u7709\u6bdb\u3084\u9577\u3044\u307e\u3064\u6bdb\u3001\u5c11\u3057\u6bdb\u6df1\u3044\u3068\u3044\u3063\u305f\u3001\u3068\u3066\u3082\u5370\u8c61\u7684\u3067\u611b\u3089\u3057\u3044\u304a\u9854\u7acb\u3061\u3092\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u3053\u308c\u306f\u300c\u30b3\u30eb\u30cd\u30ea\u30a2\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u5225\u306e\u75be\u60a3\u306b\u4f3c\u3066\u3044\u308b\u3068\u8a00\u308f\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u751f\u307e\u308c\u305f\u6642\u306b\u3001\u5fc3\u81d3\u306e\u7a74\u3084\u3001\u304a\u3057\u3063\u3053\u306e\u901a\u308a\u9053\u306e\u75c5\u6c17\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u533b\u7642\u306e\u9032\u6b69\u306b\u3088\u308a\u9069\u5207\u306a\u624b\u8853\u3084\u6cbb\u7642\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u6c17\u3092\u3064\u3051\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u306e\u306f\u300c\u76ee\u300d\u306e\u3053\u3068\u3067\u3059\u3002\u7dd1\u5185\u969c\u306a\u3069\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u3042\u308b\u306e\u3067\u3001\u5c0f\u3055\u3044\u3046\u3061\u304b\u3089\u773c\u79d1\u3067\u8a3a\u3066\u3082\u3089\u3046\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u306b\u95a2\u3057\u3066\u306f\u3001\u3086\u3063\u304f\u308a\u306a\u30da\u30fc\u30b9\u3067\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u304a\u5ea7\u308a\u304c\u3067\u304d\u305f\u308a\u3001\u6b69\u3051\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u308a\u3068\u3001\u305d\u306e\u5b50\u306a\u308a\u306b\u7740\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u300c\u67d3\u8272\u4f53\u7570\u5e38\u300d\u3084\u300c\u89aa\u306e\u907a\u4f1d\u304b\u3082\u3057\u308c\u306a\u3044\u300d\u3068\u3044\u3046\u8a71\u306f\u3001\u5927\u304d\u306a\u4e0d\u5b89\u3084\u845b\u85e4\u3092\u751f\u3080\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306f\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u81ea\u7136\u306a\u3053\u3068\u3067\u3042\u308a\u3001\u8ab0\u306e\u305b\u3044\u3067\u3082\u3042\u308a\u307e\u305b\u3093\u3002\u5927\u5207\u306a\u306e\u306f\u3001\u4eca\u306e\u304a\u5b50\u3055\u3093\u306e\u72b6\u614b\u3092\u6b63\u3057\u304f\u77e5\u308a\u3001\u5fc5\u8981\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3046\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8449\u3067\u306e\u4f1a\u8a71\u304c\u96e3\u3057\u304f\u3066\u3082\u3001\u7b11\u9854\u3084\u8eab\u632f\u308a\u3067\u305f\u304f\u3055\u3093\u306e\u6c17\u6301\u3061\u3092\u4f1d\u3048\u3066\u304f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u5e2b\u3001\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3001\u305d\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u500b\u6027\u8c4a\u304b\u306a\u6210\u9577\u3092\u9577\u304f\u3001\u6e29\u304b\u304f\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>Faas, B.H., et al.<\/strong> (2002). <em>Evaluation of the 3q21q26 duplication syndrome\/Cornelia de Lange syndrome phenotype correlation.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b3q21-q26\u91cd\u8907\u75c7\u5019\u7fa4\u3068CdLS\u306e\u81e8\u5e8a\u7684\u985e\u4f3c\u6027\u306b\u3064\u3044\u3066\u8a73\u7d30\u306b\u691c\u8a0e\u3057\u3001\u907a\u4f1d\u5b50\u578b\u3068\u8868\u73fe\u578b\u306e\u76f8\u95a2\u3092\u89e3\u6790\u3057\u305f\u91cd\u8981\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Aqua, M.S., et al.<\/strong> (1995). <em>Duplication 3q syndrome: molecular delineation of the critical region.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b3q\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u8cac\u4efb\u9818\u57df\uff08\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\uff09\u3092\u5206\u5b50\u30ec\u30d9\u30eb\u3067\u7279\u5b9a\u3057\u30013q21-qter\u91cd\u8907\u306e\u81e8\u5e8a\u50cf\u3092\u5b9a\u7fa9\u3057\u305f\u57fa\u790e\u7684\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Raggio, V., et al.<\/strong> (2004). <em>Pure distal 3q21.3-q25.2 duplication.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u4ed6\u306e\u67d3\u8272\u4f53\u7570\u5e38\u3092\u4f34\u308f\u306a\u3044\u3001\u7d14\u7c8b\u306a3q\u4e2d\u9593\u91cd\u8907\u306e\u75c7\u4f8b\u5831\u544a\u3002\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u591a\u6bdb\u3001\u5fc3\u75be\u60a3\u306a\u3069\uff09\u3092\u8a73\u7d30\u306b\u8a18\u8ff0\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Schinzel, A.<\/strong> (2001). <em>Catalogue of Unbalanced Chromosome Aberrations in Man.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u67d3\u8272\u4f53\u4e0d\u5747\u8861\u306b\u3088\u308b\u75c7\u5019\u7fa4\u3092\u7db2\u7f85\u3057\u305f\u30ab\u30bf\u30ed\u30b0\u30023q\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u5178\u578b\u7684\u306a\u9854\u8c8c\u3084\u5408\u4f75\u75c7\u983b\u5ea6\u306b\u3064\u3044\u3066\u306e\u7d71\u8a08\u7684\u30c7\u30fc\u30bf\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>Duplications of 3q<\/em> (2018).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u767a\u9054\u306e\u76ee\u5b89\u3001\u5408\u4f75\u75c7\uff08\u7279\u306b\u773c\u79d1\u30fb\u5fc3\u81d3\uff09\u3078\u306e\u5bfe\u5fdc\u3001\u7642\u80b2\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u306a\u3069\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Cornelia de Lange Syndrome<\/em>. (For differential diagnosis comparison).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u9451\u5225\u75be\u60a3\u3067\u3042\u308bCdLS\u306e\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u3084\u81e8\u5e8a\u7684\u7279\u5fb4\u306b\u3064\u3044\u3066\u306e\u53c2\u7167\u5143\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-17047","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\/17047","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\/17047\/revisions"}],"predecessor-version":[{"id":17050,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17047\/revisions\/17050"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17047"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}