{"id":17061,"date":"2026-01-21T05:46:29","date_gmt":"2026-01-21T05:46:29","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17061"},"modified":"2026-01-21T05:46:29","modified_gmt":"2026-01-21T05:46:29","slug":"3q29-duplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/3q29-duplication-syndrome\/","title":{"rendered":"3q29 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>3q29\u91cd\u8907\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>3q29\u5fae\u7d30\u91cd\u8907\u75c7\u5019\u7fa4\uff083q29 microduplication syndrome\uff09<\/li>\n\n\n\n<li>3q29\u30c8\u30ea\u30bd\u30df\u30fc\uff08Trisomy 3q29\uff09<\/li>\n\n\n\n<li>3q29\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff08\u91cd\u8907\uff09\uff083q29 copy number variant, duplication\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a3q29\u6b20\u5931\u75c7\u5019\u7fa4\uff083q29 deletion syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75be\u60a3\u3068\u540c\u3058\u9818\u57df\u304c\u6b20\u5931\u3059\u308b\u3001\u5bfe\uff08\u3064\u3044\uff09\u3068\u306a\u308b\u75be\u60a3\u3067\u3059\u3002\u6b20\u5931\u578b\u306f\u7d71\u5408\u5931\u8abf\u75c7\u306e\u5f37\u529b\u306a\u30ea\u30b9\u30af\u56e0\u5b50\u3068\u3057\u3066\u6709\u540d\u3067\u3059\u304c\u3001\u91cd\u8907\u578b\uff08\u672c\u75be\u60a3\uff09\u306f\u81e8\u5e8a\u50cf\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>3\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0929\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\u672b\u7aef\u306b\u8fd1\u3044\u300c29\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\u300c\u76f8\u53cd\u3059\u308b\u300d\u95a2\u4fc2\u3011<\/p>\n\n\n\n<p>3q29\u9818\u57df\u306b\u306f\u3001\u7d041.6\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u306e\u5178\u578b\u7684\u306a\u53cd\u5fa9\u9818\u57df\u304c\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306e\u4e21\u7aef\u306b\u306f\u3001DNA\u914d\u5217\u304c\u4e92\u3044\u306b\u3088\u304f\u4f3c\u305f\u300cLCR\uff08Low Copy Repeats\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u30d6\u30ed\u30c3\u30af\u304c\u3042\u308a\u3001\u7d30\u80de\u5206\u88c2\u306e\u969b\u306b\u67d3\u8272\u4f53\u306e\u7d44\u63db\u3048\u30a8\u30e9\u30fc\uff08NAHR\uff09\u304c\u8d77\u3053\u308a\u3084\u3059\u3044\u69cb\u9020\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u7d50\u679c\u3001\u3053\u306e\u533a\u9593\u304c\u300c\u629c\u3051\u843d\u3061\u308b\uff08\u6b20\u5931\uff09\u300d\u304b\u300c\u500d\u306b\u306a\u308b\uff08\u91cd\u8907\uff09\u300d\u304b\u306e\u3069\u3061\u3089\u304b\u304c\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u3053\u306e\u907a\u4f1d\u5b50\u7fa4\u304c**3\u30b3\u30d4\u30fc\uff08\u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3\uff09**\u306b\u306a\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u7d0422\u500b\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u7279\u306b\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u306e\u904e\u5270\u304c\u8133\u306e\u767a\u9054\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>DLG1 (Discs Large MAGUK Scaffold Protein 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u91cd\u8981\u306e\u8cac\u4efb\u907a\u4f1d\u5b50<\/strong>\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u306e\u30b7\u30ca\u30d7\u30b9\uff08\u795e\u7d4c\u7d30\u80de\u306e\u3064\u306a\u304e\u76ee\uff09\u306e\u5f62\u6210\u3084\u6a5f\u80fd\u3092\u652f\u3048\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\uff08\u4e0d\u8db3\uff09:<\/strong> \u7d71\u5408\u5931\u8abf\u75c7\u306e\u30ea\u30b9\u30af\u3092\u5287\u7684\u306b\u9ad8\u3081\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u8907\uff08\u904e\u5270\uff09:<\/strong> \u672c\u75be\u60a3\u306e\u72b6\u614b\u3067\u3059\u3002\u904e\u5270\u306b\u306a\u308b\u3068\u30b7\u30ca\u30d7\u30b9\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u5909\u5316\u3057\u3001**\u300c\u77e5\u7684\u969c\u5bb3\u300d<strong>\u3084<\/strong>\u300c\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u300d**\u306e\u30ea\u30b9\u30af\u306b\u306a\u308a\u307e\u3059\u304c\u3001\u7d71\u5408\u5931\u8abf\u75c7\u306e\u30ea\u30b9\u30af\u3068\u306e\u95a2\u9023\u306f\u6b20\u5931\u307b\u3069\u660e\u78ba\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>PAK2 (P21 (RAC1) Activated Kinase 2):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306e\u9aa8\u683c\u5236\u5fa1\u3084\u79fb\u52d5\u306b\u95a2\u308f\u308b\u9175\u7d20\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u306e\u30b5\u30a4\u30ba\uff08\u5c0f\u982d\u75c7\u306a\u3069\uff09\u3084\u795e\u7d4c\u56de\u8def\u306e\u5f62\u6210\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>BDH1:<\/strong> \u8102\u80aa\u9178\u4ee3\u8b1d\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\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\u3060\u304c\u3001\u6b63\u78ba\u306a\u983b\u5ea6\u306f\u4e0d\u660e<\/strong><\/p>\n\n\n\n<p>\u4e00\u822c\u96c6\u56e3\u306b\u304a\u3051\u308b\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u5bfe\u3068\u306a\u308b\u300c3q29\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u306f\u7d0430,000\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u5831\u544a\u6570\u306f\u305d\u308c\u3088\u308a\u3082\u5c11\u306a\u3044\u50be\u5411\u306b\u3042\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\uff08Underdiagnosis\uff09\u300d**\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u6975\u3081\u3066\u9ad8\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u75c7\u72b6\u304c\u8efd\u5ea6\u30fb\u975e\u7279\u7570\u7684:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u91cd\u7be4\u306a\u8eab\u4f53\u5947\u5f62\u3092\u4f34\u308f\u306a\u3044\u3053\u3068\u304c\u591a\u304f\u3001\u8efd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u306e\u307f\u3092\u6301\u3064\u304a\u5b50\u3055\u3093\u3068\u3057\u3066\u8a3a\u65ad\u304c\u3064\u304b\u306a\u3044\u307e\u307e\u904e\u3054\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e0d\u5b8c\u5168\u6d78\u900f\uff08Incomplete Penetrance\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u75c7\u72b6\u304c\u5168\u304f\u51fa\u306a\u3044\uff08\u7121\u75c7\u72b6\uff09\u306e\u4eba\u304c\u5b58\u5728\u3059\u308b\u305f\u3081\u3001\u691c\u67fb\u3092\u53d7\u3051\u305a\u306b\u751f\u6d3b\u3057\u3066\u3044\u308b\u300c\u6f5c\u5728\u7684\u306a\u4fdd\u56e0\u8005\u300d\u304c\u76f8\u5f53\u6570\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\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>3q29 duplication syndrome\u306e\u81e8\u5e8a\u50cf\u306f\u3001**\u300c\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u767a\u9054\u9045\u6ede\u300d\u3068\u300c\u5c0f\u982d\u75c7\u300d\u304c\u4e3b\u5fb4\u3067\u3059\u304c\u3001\u300c\u75c7\u72b6\u306e\u500b\u4eba\u5dee\u304c\u6975\u3081\u3066\u5927\u304d\u3044\u300d**\u3053\u3068\u304c\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306a\u300c\u7d71\u5408\u5931\u8abf\u75c7\u306e\u9ad8\u30ea\u30b9\u30af\u300d\u3068\u3044\u3046\u5207\u8feb\u3057\u305f\u7cbe\u795e\u75c7\u72b6\u3088\u308a\u3082\u3001\u767a\u9054\u3084\u884c\u52d5\u7279\u6027\u3078\u306e\u7a4f\u3084\u304b\u306a\u5f71\u97ff\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u6700\u3082\u4e00\u822c\u7684\u306a\u53d7\u8a3a\u7406\u7531\u306f\u3001\u4e73\u5e7c\u5150\u671f\u306e\u767a\u9054\u306e\u9045\u308c\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u6ede\uff08DD\uff09 \/ \u77e5\u7684\u969c\u5bb3\uff08ID\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u75c7\u4f8b\u3067\u3001\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u767a\u9054\u9045\u6ede\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u9045\u308c\uff08Speech delay\uff09\u3084\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u91cd\u5ea6\u3067\u3042\u308b\u3053\u3068\u306f\u7a00\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u91cd\u8981\u306a\u70b9\u3068\u3057\u3066\u3001**\u300c\u77e5\u80fd\u304c\u6b63\u5e38\u7bc4\u56f2\uff08Normal IQ\uff09\u300d**\u3067\u3042\u308b\u60a3\u8005\u3055\u3093\u3082\u6570\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5b66\u7fd2\u969c\u5bb3\uff08LD\uff09\u306e\u307f\u3092\u6301\u3064\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8868\u73fe\u6027\u8a00\u8a9e\uff08\u8a71\u3059\u3053\u3068\uff09\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u9069\u5207\u306a\u7642\u80b2\u306b\u3088\u308a\u4f1a\u8a71\u80fd\u529b\u3092\u7372\u5f97\u3059\u308b\u30b1\u30fc\u30b9\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7279\u6027<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u793e\u4f1a\u7684\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u82e6\u624b\u3055\u3084\u3001\u3053\u3060\u308f\u308a\u3068\u3044\u3063\u305fASD\u7279\u6027\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u843d\u3061\u7740\u304d\u306e\u306a\u3055\u3084\u4e0d\u6ce8\u610f\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9:<\/strong>\n<ul class=\"wp-block-list\">\n<li>3q29&#8243;\u6b20\u5931&#8221;\u75c7\u5019\u7fa4\u3067\u306f\u7d71\u5408\u5931\u8abf\u75c7\u306e\u30ea\u30b9\u30af\u304c\u7d0440\u500d\u3068\u6975\u3081\u3066\u9ad8\u3044\u3067\u3059\u304c\u3001\u672c\u75be\u60a3\uff08&#8221;\u91cd\u8907&#8221;\u75c7\u5019\u7fa4\uff09\u306b\u304a\u3044\u3066\u306f\u3001\u305d\u3053\u307e\u3067\u306e\u5f37\u3044\u95a2\u9023\u306f\u793a\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001\u53cc\u6975\u6027\u969c\u5bb3\u3084\u4e0d\u5b89\u969c\u5bb3\u306a\u3069\u306e\u30ea\u30b9\u30af\u304c\u4e00\u822c\u3088\u308a\u3084\u3084\u9ad8\u3044\u53ef\u80fd\u6027\u306f\u5426\u5b9a\u3067\u304d\u306a\u3044\u305f\u3081\u3001\u601d\u6625\u671f\u4ee5\u964d\u306e\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9\u306b\u306f\u6ce8\u610f\u3092\u6255\u3046\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u300c\u3053\u306e\u75c5\u6c17\u7279\u6709\u300d\u3068\u3044\u3046\u5f37\u3044\u7279\u5fb4\uff08\u7279\u7570\u7684\u9854\u8c8c\uff09\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u3044\u304f\u3064\u304b\u306e\u50be\u5411\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u982d\u56f2\u304c\u5c0f\u3055\u3081\u3067\u3042\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f<em>PAK2<\/em>\u907a\u4f1d\u5b50\u306a\u3069\u306e\u904e\u5270\u767a\u73fe\u304c\u8133\u306e\u6210\u9577\u306b\u5f71\u97ff\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u9006\u306b\u3001\u5927\u982d\u75c7\uff08Macrocephaly\uff09\u304c\u898b\u3089\u308c\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u3001\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\u306e\u8907\u96d1\u3055\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9854\u8c8c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e38\u3044\u9854\u3001\u30a2\u30fc\u30c1\u72b6\u306e\u7709\u6bdb\u3001\u9f3b\u306e\u7279\u5fb4\uff08\u7403\u72b6\u306e\u9f3b\u5148\u306a\u3069\uff09\u3001\u8033\u306e\u5f62\u306e\u5909\u5f62\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u975e\u5e38\u306b\u8efd\u5fae\u3067\u3042\u308a\u3001\u5bb6\u65cf\u306b\u4f3c\u3066\u3044\u308b\u7bc4\u56f2\u5185\u3067\u3042\u308b\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u306e\u773c\u7403\u7570\u5e38\uff08\u659c\u8996\u3001\u5c48\u6298\u7570\u5e38\u306a\u3069\uff09\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. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<p>\u5185\u81d3\u5947\u5f62\u306e\u5408\u4f75\u7387\u306f\u4f4e\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u8efd\u5fae\u306a\u5fc3\u75be\u60a3\uff08\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069\uff09\u304c\u7a00\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c:<\/strong> \u5074\u5f2f\u75c7\u3084\u3001\u624b\u8db3\u306e\u6307\u306e\u8efd\u5fae\u306a\u7570\u5e38\uff08\u30af\u30ea\u30ce\u30c0\u30af\u30c6\u30a3\u30ea\u30fc\u306a\u3069\uff09\u3002<\/li>\n\n\n\n<li><strong>\u6210\u9577:<\/strong> \u4f4e\u51fa\u751f\u4f53\u91cd\u3084\u3001\u305d\u306e\u5f8c\u306e\u4f53\u91cd\u5897\u52a0\u4e0d\u826f\uff08\u307e\u305f\u306f\u9006\u306b\u80a5\u6e80\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4e00\u5b9a\u306e\u50be\u5411\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/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\uff083q29\uff09\u306b\u304a\u3051\u308b\u7d041.6Mb\u306e\u5fae\u7d30\u91cd\u8907<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f\uff1aNAHR\uff08\u975e\u30a2\u30ea\u30eb\u9593\u540c\u6e90\u7d44\u63db\u3048\uff09<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u3001DNA\u914d\u5217\u304c\u305d\u3063\u304f\u308a\u306a\u30d6\u30ed\u30c3\u30af\uff08LCR\uff09\u304c\u5b58\u5728\u3059\u308b\u305f\u3081\u3001\u7d30\u80de\u5206\u88c2\u306e\u969b\u306b\u67d3\u8272\u4f53\u306e\u7d44\u63db\u3048\u30a8\u30e9\u30fc\u304c\u8d77\u3053\u308a\u3084\u3059\u304f\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u6b20\u5931\u300d\u3068\u300c\u91cd\u8907\u300d\u306f\u30b3\u30a4\u30f3\u306e\u88cf\u8868\u306e\u95a2\u4fc2\u3067\u3042\u308a\u3001\u540c\u3058\u30e1\u30ab\u30cb\u30ba\u30e0\u3067\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Gene Dosage Effect\uff09<\/strong><\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306f\u91cf\u304c\u591a\u3059\u304e\u3066\u3082\u554f\u984c\u3092\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><em>DLG1<\/em>\u306a\u3069\u306e\u30b7\u30ca\u30d7\u30b9\u95a2\u9023\u907a\u4f1d\u5b50\u304c\u904e\u5270\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u56de\u8def\u306e\u5f62\u6210\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3001\u767a\u9054\u306e\u9045\u308c\u3084ASD\u7279\u6027\u306b\u3064\u306a\u304c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3057\u304b\u3057\u3001\u91cd\u8907\uff08\u904e\u5270\uff09\u306f\u6b20\u5931\uff08\u4e0d\u8db3\uff09\u306b\u6bd4\u3079\u3066\u3001\u7d30\u80de\u306b\u3068\u3063\u3066\u306e\u30c0\u30e1\u30fc\u30b8\u304c\u5c11\u306a\u3044\uff08\u8a31\u5bb9\u7bc4\u56f2\u304c\u5e83\u3044\uff09\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u304c\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u65b9\u304c\u75c7\u72b6\u304c\u8efd\u304b\u3063\u305f\u308a\u3001\u7121\u75c7\u72b6\u3060\u3063\u305f\u308a\u3059\u308b\u7406\u7531\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u907a\u4f1d\u5f62\u5f0f\u3068\u4e0d\u5b8c\u5168\u6d78\u900f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5bb6\u65cf\u6027\uff08Inherited\uff09\u306e\u983b\u5ea6\u304c\u9ad8\u3044:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75be\u60a3\u306b\u304a\u3044\u3066\u975e\u5e38\u306b\u91cd\u8981\u306a\u70b9\u3067\u3059\u3002<\/li>\n\n\n\n<li>3q29\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001**\u300c\u89aa\u304b\u3089\u306e\u907a\u4f1d\u300d**\u3067\u3042\u308b\u30b1\u30fc\u30b9\u304c\u975e\u5e38\u306b\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u81ea\u8eab\u3082\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u304c\u3001\u89aa\u306f\u300c\u7121\u75c7\u72b6\u300d\u3067\u3042\u3063\u305f\u308a\u3001\u300c\u5c11\u3057\u52c9\u5f37\u304c\u82e6\u624b\u3060\u3063\u305f\u300d\u7a0b\u5ea6\u3067\u3042\u3063\u305f\u308a\u3057\u3066\u3001\u8a3a\u65ad\u3055\u308c\u305a\u306b\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5b50\u3069\u3082\u304c\u767a\u9054\u306e\u9045\u308c\u306a\u3069\u3067\u691c\u67fb\u3092\u53d7\u3051\u305f\u969b\u306b\u3001\u521d\u3081\u3066\u89aa\u306e\u91cd\u8907\u3082\u5224\u660e\u3059\u308b\uff08\u4e0d\u5b8c\u5168\u6d78\u900f\uff09\u3068\u3044\u3046\u30d1\u30bf\u30fc\u30f3\u304c\u3088\u304f\u898b\u3089\u308c\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>\u5916\u898b\u304b\u3089\u306f\u8a3a\u65ad\u3067\u304d\u306a\u3044\u305f\u3081\u3001\u767a\u9054\u9045\u6ede\u3084\u81ea\u9589\u75c7\u306e\u691c\u67fb\u904e\u7a0b\u3067\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u884c\u308f\u308c\u3066\u767a\u898b\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\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>3q29\u9818\u57df\u306e\u30b3\u30d4\u30fc\u6570\u5897\u52a0\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\u3068\u3001<em>DLG1<\/em>\u907a\u4f1d\u5b50\u306a\u3069\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u691c\u67fb\u306b\u3088\u308a\u3001\u6b20\u5931\uff08Deletion\uff09\u306a\u306e\u304b\u91cd\u8907\uff08Duplication\uff09\u306a\u306e\u304b\u304c\u660e\u78ba\u306b\u306a\u308a\u307e\u3059\u3002\u4e88\u5f8c\uff08\u7279\u306b\u7cbe\u795e\u75be\u60a3\u30ea\u30b9\u30af\uff09\u304c\u5168\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u3053\u306e\u533a\u5225\u306f\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e21\u89aa\u306e\u89e3\u6790\uff08Parental Testing\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u304a\u5b50\u3055\u3093\u306b\u91cd\u8907\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u3001\u4e21\u89aa\u306e\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u304c<strong>\u5f37\u304f\u63a8\u5968<\/strong>\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u610f\u7fa9:<\/strong> \u3082\u3057\u89aa\u3082\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u305f\u5834\u5408\u3001\u305d\u306e\u91cd\u8907\u306e\u75c5\u539f\u6027\u306f\u4f4e\u3044\uff08\u826f\u6027\u5bc4\u308a\uff09\u304b\u3001\u3042\u308b\u3044\u306f\u4e0d\u5b8c\u5168\u6d78\u900f\u3067\u3042\u308b\u3068\u5224\u65ad\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u5065\u5eb7\u3067\u3042\u308c\u3070\u3001\u304a\u5b50\u3055\u3093\u3082\u5c06\u6765\u7684\u306b\u5065\u5eb7\u306b\u751f\u6d3b\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3068\u3044\u3046\u3001\u5f37\u529b\u306a\u5b89\u5fc3\u6750\u6599\u306b\u306a\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>\u904e\u5270\u306a\u67d3\u8272\u4f53\u9818\u57df\u3092\u53d6\u308a\u9664\u304f\u3088\u3046\u306a\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u307e\u305f\u3001\u7121\u75c7\u72b6\u3067\u3042\u308c\u3070\u6cbb\u7642\u306e\u5fc5\u8981\u3082\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u767a\u9054\u30fb\u5b66\u7fd2\u9762\u3078\u306e\u7642\u80b2\u7684\u652f\u63f4\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:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u304c\u3042\u308b\u5834\u5408\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u6d3b\u7528\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u767a\u9054\u691c\u67fb\u3092\u884c\u3044\u3001\u304a\u5b50\u3055\u3093\u306e\u5f97\u610f\u306a\u90e8\u5206\uff08\u8996\u899a\u512a\u4f4d\u306a\u3069\uff09\u3068\u82e6\u624b\u306a\u90e8\u5206\u3092\u628a\u63e1\u3057\u3001\u500b\u5225\u306e\u652f\u63f4\u8a08\u753b\u3092\u7acb\u3066\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6559\u80b2\u7684\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u304c\u306a\u304f\u3066\u3082\u3001\u5b66\u7fd2\u969c\u5bb3\uff08LD\uff09\u306e\u50be\u5411\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5b66\u6821\u3067\u306e\u74b0\u5883\u8abf\u6574\uff08\u8aad\u307f\u66f8\u304d\u306e\u30b5\u30dd\u30fc\u30c8\u306a\u3069\uff09\u3084\u3001\u901a\u7d1a\u6307\u5c0e\u6559\u5ba4\u306e\u5229\u7528\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306f\u3001\u901a\u5e38\u306e\u5b66\u7d1a\u307e\u305f\u306f\u652f\u63f4\u7d1a\u3067\u5b66\u3073\u3001\u81ea\u7acb\u3057\u305f\u751f\u6d3b\u3092\u76ee\u6307\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5065\u5eb7\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b9a\u671f\u691c\u8a3a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7279\u5225\u306a\u5185\u81d3\u306e\u75c5\u6c17\u304c\u306a\u3051\u308c\u3070\u3001\u983b\u7e41\u306a\u901a\u9662\u306f\u4e0d\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8a3a\u65ad\u6642\u306b\u4e00\u5ea6\u3001\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u306a\u3069\u3067\u96a0\u308c\u305f\u7570\u5e38\u304c\u306a\u3044\u304b\u78ba\u8a8d\u3059\u308c\u3070\u3001\u3042\u3068\u306f\u901a\u5e38\u306e\u4e73\u5e7c\u5150\u5065\u8a3a\u3084\u5b66\u6821\u5065\u8a3a\u3067\u5341\u5206\u306a\u5834\u5408\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u982d\u56f2\u306e\u6e2c\u5b9a\u3092\u884c\u3044\u3001\u5c0f\u982d\u75c7\u306e\u50be\u5411\u304c\u3042\u308b\u5834\u5408\u306f\u767a\u9054\u306e\u7d4c\u904e\u3092\u4e01\u5be7\u306b\u8ffd\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \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\u30b1\u30a2\u306e\u4e00\u3064\u3067\u3059\u3002<\/strong><\/li>\n\n\n\n<li><strong>\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306e\u533a\u5225:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u300c3q29\u300d\u3068\u691c\u7d22\u3059\u308b\u3068\u3001\u300c\u7d71\u5408\u5931\u8abf\u75c7\u300d\u3084\u300c\u91cd\u3044\u969c\u5bb3\u300d\u3068\u3044\u3063\u305f\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u60c5\u5831\u304c\u591a\u304f\u51fa\u3066\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3053\u308c\u3089\u3068\u306f\u7570\u306a\u308b\u3082\u306e\u3067\u3042\u308a\u3001\u4e00\u822c\u7684\u306b\u4e88\u5f8c\u306f\u826f\u597d\u3067\u3042\u308b\u3053\u3068\u3092\u6b63\u3057\u304f\u7406\u89e3\u3057\u3001\u904e\u5ea6\u306a\u4e0d\u5b89\u3092\u53d6\u308a\u9664\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u89aa\u304c\u4fdd\u56e0\u8005\u3060\u3063\u305f\u5834\u5408:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u300c\u907a\u4f1d\u3055\u305b\u3066\u3057\u307e\u3063\u305f\u300d\u3068\u81ea\u5206\u3092\u8cac\u3081\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u5065\u5eb7\u306a\u89aa\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u305f\u3068\u3044\u3046\u3053\u3068\u306f\u3001\u3080\u3057\u308d\u300c\u3053\u306e\u91cd\u8907\u304c\u3042\u3063\u3066\u3082\u793e\u4f1a\u306b\u9069\u5fdc\u3067\u304d\u308b\u300d\u3068\u3044\u3046\u8a3c\u660e\u3067\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>3q29 duplication syndrome\u306f\u30013\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u4f53\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u5927\u304d\u306a\u7279\u5fb4\u306f\u3001\u300c\u6301\u3063\u3066\u3044\u308b\u3051\u308c\u3069\u75c7\u72b6\u304c\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u3068\u3066\u3082\u8efd\u3044\u300d\u4eba\u304c\u305f\u304f\u3055\u3093\u3044\u308b\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306b\u8a00\u8449\u306e\u9045\u308c\u3084\u3001\u5c11\u3057\u843d\u3061\u7740\u304d\u304c\u306a\u3044\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u3042\u308a\u3001\u691c\u67fb\u306e\u7d50\u679c\u3053\u306e\u91cd\u8907\u304c\u898b\u3064\u304b\u3063\u305f\u3068\u3057\u3066\u3082\u3001\u305d\u308c\u304c\u300c\u5c06\u6765\u305a\u3063\u3068\u7d9a\u304f\u91cd\u3044\u969c\u5bb3\u300d\u3092\u610f\u5473\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3080\u3057\u308d\u3001\u5065\u5eb7\u306a\u304a\u7236\u3055\u3093\u3084\u304a\u6bcd\u3055\u3093\u3082\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3001\u4eca\u307e\u3067\u6c17\u3065\u304b\u305a\u306b\u5143\u6c17\u306b\u904e\u3054\u3057\u3066\u304d\u305f\u3001\u3068\u3044\u3046\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5bfe\u3068\u306a\u308b\u300c\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u306f\u7d71\u5408\u5931\u8abf\u75c7\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u3053\u3068\u3067\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u306e\u300c\u91cd\u8907\u75c7\u5019\u7fa4\u300d\u3067\u306f\u305d\u3053\u307e\u3067\u306e\u30ea\u30b9\u30af\u306f\u306a\u304f\u3001\u75c7\u72b6\u306f\u3088\u308a\u30de\u30a4\u30eb\u30c9\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u5225\u306a\u624b\u8853\u3084\u5165\u9662\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u306f\u7a00\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8449\u306e\u7df4\u7fd2\u3084\u3001\u5b66\u7fd2\u306e\u30b5\u30dd\u30fc\u30c8\u306a\u3069\u3001\u305d\u306e\u6642\u306e\u304a\u5b50\u3055\u3093\u306e\u300c\u56f0\u308a\u611f\u300d\u306b\u5408\u308f\u305b\u305f\u7642\u80b2\u3092\u884c\u3048\u3070\u3001\u304a\u5b50\u3055\u3093\u306f\u305d\u306e\u5b50\u306a\u308a\u306e\u30da\u30fc\u30b9\u3067\u7740\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u4e0a\u306e\u3001\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u91cd\u3044\u60c5\u5831\u306b\u60d1\u308f\u3055\u308c\u305a\u3001\u907a\u4f1d\u306e\u5c02\u9580\u5bb6\u3068\u9023\u643a\u3057\u3066\u3001\u6b63\u3057\u3044\u77e5\u8b58\u3092\u6301\u3063\u3066\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>Lisi, E.C., et al.<\/strong> (2008). <em>Clinical and molecular characterization of patients with recurrent 3q29 microduplications.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b3q29\u91cd\u8907\u3092\u6301\u3064\u60a3\u800519\u4f8b\u3092\u8a73\u7d30\u306b\u89e3\u6790\u3057\u3001\u75c7\u72b6\u306e\u591a\u69d8\u6027\uff08\u8efd\u5ea6\u306eID\u3001\u5c0f\u982d\u75c7\u3001\u307e\u305f\u306f\u7121\u75c7\u72b6\u306a\u3069\uff09\u3068\u3001\u4e0d\u5b8c\u5168\u6d78\u900f\u306b\u3064\u3044\u3066\u5831\u544a\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Willatt, L., et al.<\/strong> (2005). <em>3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u767a\u898b\u306b\u95a2\u3059\u308b\u8ad6\u6587\u3060\u304c\u3001\u5bfe\u7167\u7684\u306a\u91cd\u8907\uff08Reciprocal duplication\uff09\u306b\u3064\u3044\u3066\u3082\u8a00\u53ca\u304c\u3042\u308a\u3001\u767a\u751f\u6a5f\u5e8f\uff08NAHR\uff09\u306e\u7406\u89e3\u306b\u5f79\u7acb\u3064\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Ballif, B.C., et al.<\/strong> (2008). <em>Identification of a recurrent microdeletion at 3q29 of ~1.6 Mb and a reciprocal microduplication in patients with mental retardation and congenital anomalies.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b3q29\u9818\u57df\u306b\u304a\u3051\u308b\u6b20\u5931\u3068\u91cd\u8907\u306e\u518d\u767a\u6027CNV\u3092\u540c\u5b9a\u3057\u3001\u305d\u308c\u305e\u308c\u306e\u983b\u5ea6\u3084\u81e8\u5e8a\u50cf\u3092\u6bd4\u8f03\u691c\u8a0e\u3057\u305f\u57fa\u790e\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Goes, F.S., et al.<\/strong> (2012). <em>Copy number variants in bipolar disorder.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u53cc\u6975\u6027\u969c\u5bb3\u306a\u3069\u306e\u7cbe\u795e\u75be\u60a3\u60a3\u8005\u306b\u304a\u3051\u308bCNV\u89e3\u6790\u306b\u304a\u3044\u3066\u30013q29\u91cd\u8907\u304c\u691c\u51fa\u3055\u308c\u308b\u30b1\u30fc\u30b9\u304c\u3042\u308b\u3053\u3068\u3092\u5831\u544a\u3057\u3001\u7cbe\u795e\u533b\u5b66\u7684\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u8003\u5bdf\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>3q29 microduplications<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u6b20\u5931\u3068\u306e\u9055\u3044\u3001\u75c7\u72b6\u306e\u5e45\u5e83\u3055\u3001\u89aa\u304c\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u306e\u8003\u3048\u65b9\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>ClinGen Dosage Sensitivity Curation<\/strong>: <em>DLG1<\/em>, <em>PAK2<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5404\u907a\u4f1d\u5b50\u306e\u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3\uff08\u91cd\u8907\u306b\u3088\u308b\u5f71\u97ff\uff09\u306b\u95a2\u3059\u308b\u79d1\u5b66\u7684\u8a55\u4fa1\u3002\u6b20\u5931\u306b\u6bd4\u3079\u3066\u91cd\u8907\u306e\u75c5\u539f\u6027\u8a3c\u62e0\u306f\u4f4e\u3044\u3001\u307e\u305f\u306f\u591a\u69d8\u3067\u3042\u308b\u3068\u8a55\u4fa1\u3055\u308c\u3066\u3044\u308b\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> 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