{"id":17059,"date":"2026-01-21T05:43:09","date_gmt":"2026-01-21T05:43:09","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17059"},"modified":"2026-01-21T05:44:28","modified_gmt":"2026-01-21T05:44:28","slug":"3q29-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/3q29-deletion-syndrome\/","title":{"rendered":"3q29 deletion 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\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>3q29\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff083q29 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>3q29\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 3q29\uff09<\/li>\n\n\n\n<li>3q29\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff08\u6b20\u5931\uff09\uff083q29 copy number variant, deletion\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u7d71\u5408\u5931\u8abf\u75c7\u611f\u53d7\u6027\u907a\u4f1d\u5b50\u5ea7\uff08Susceptibility locus for Schizophrenia\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75be\u60a3\u306f\u3001\u4e00\u822c\u96c6\u56e3\u306b\u6bd4\u3079\u3066\u7d71\u5408\u5931\u8abf\u75c7\u306e\u767a\u75c7\u30ea\u30b9\u30af\u304c\u6975\u3081\u3066\u9ad8\u3044\uff08\u7d0440\u500d\u4ee5\u4e0a\uff09\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u7cbe\u795e\u533b\u5b66\u907a\u4f1d\u5b66\u306e\u5206\u91ce\u3067\u6700\u91cd\u8981\u8996\u3055\u308c\u3066\u3044\u308bCNV\uff08\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff09\u306e\u4e00\u3064\u3067\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\u6b20\u5931\u3059\u308b\u3053\u3068\uff08\u30b3\u30d4\u30fc\u6570\u304c1\u3064\u306b\u306a\u308b\uff1a\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\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\u6b20\u5931\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\u3053\u308c\u3089\u304c\u8aa4\u3063\u3066\u30da\u30a2\u3092\u7d44\u3080\u3053\u3068\u3067\u6b20\u5931\u304c\u8d77\u3053\u308a\u3084\u3059\u304f\u306a\u3063\u3066\u3044\u307e\u3059\uff08\u518d\u767a\u6027\u6b20\u5931\uff09\u3002<\/p>\n\n\n\n<p>\u3053\u306e1.6Mb\u306e\u533a\u9593\u306b\u306f\u7d0422\u500b\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u7279\u306b\u8133\u306e\u767a\u9054\u3084\u795e\u7d4c\u6a5f\u80fd\u306b\u95a2\u308f\u308b\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u304c\u3001\u75c7\u72b6\u5f62\u6210\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3011<\/strong><\/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\u795e\u7d4c\u7d30\u80de\u540c\u58eb\u304c\u3064\u306a\u304c\u308b\u300c\u30b7\u30ca\u30d7\u30b9\u300d\u306e\u5f62\u6210\u3084\u6a5f\u80fd\u3092\u652f\u3048\u308b\u8db3\u5834\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u4e0d\u5168\u306f\u3001\u60c5\u5831\u306e\u4f1d\u9054\u52b9\u7387\u3092\u5909\u5316\u3055\u305b\u3001\u7d71\u5408\u5931\u8abf\u75c7\u3084\u77e5\u7684\u969c\u5bb3\u306e\u767a\u75c7\u30e1\u30ab\u30cb\u30ba\u30e0\u306b\u6df1\u304f\u95a2\u308f\u3063\u3066\u3044\u308b\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\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\u304c\u6b63\u3057\u3044\u5834\u6240\u306b\u79fb\u52d5\u3057\u305f\u308a\u3001\u7a81\u8d77\u3092\u4f38\u3070\u3057\u305f\u308a\u3059\u308b\uff08\u7d30\u80de\u9aa8\u683c\u306e\u5236\u5fa1\uff09\u306e\u306b\u95a2\u308f\u308b\u9175\u7d20\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u306e\u767a\u9054\u6bb5\u968e\u306b\u304a\u3051\u308b\u914d\u7dda\u30df\u30b9\uff08\u795e\u7d4c\u56de\u8def\u306e\u5f62\u6210\u4e0d\u5168\uff09\u306b\u95a2\u4e0e\u3057\u3001\u5fae\u7d30\u306a\u8133\u69cb\u9020\u306e\u5909\u5316\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>BDH1 (3-Hydroxybutyrate Dehydrogenase 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8102\u80aa\u9178\u306e\u4ee3\u8b1d\uff08\u30b1\u30c8\u30f3\u4f53\uff09\u306b\u95a2\u308f\u308b\u9175\u7d20\u3067\u3042\u308a\u3001\u8eab\u4f53\u7684\u306a\u4ee3\u8b1d\u3078\u306e\u5f71\u97ff\u304c\u8003\u3048\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u7a00\uff08Rare\uff09\u3060\u304c\u3001\u7cbe\u795e\u75be\u60a3\u60a3\u8005\u7fa4\u3067\u306f\u983b\u5ea6\u304c\u9ad8\u3044<\/strong><\/p>\n\n\n\n<p>\u4e00\u822c\u96c6\u56e3\u306b\u304a\u3051\u308b\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u3001\u7d0430,000\u4eba\u301c40,000\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f**\u300c\u904e\u5c11\u8a3a\u65ad\uff08Underdiagnosis\uff09\u300d**\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u975e\u5e38\u306b\u9ad8\u3044\u3067\u3059\u3002\u7406\u7531\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u8eab\u4f53\u7684\u7279\u5fb4\u304c\u76ee\u7acb\u305f\u306a\u3044:<\/strong> \u660e\u3089\u304b\u306a\u5947\u5f62\u3092\u4f34\u308f\u306a\u3044\u3053\u3068\u304c\u591a\u304f\u3001\u51fa\u751f\u6642\u306b\u6c17\u3065\u304b\u308c\u306a\u3044\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8efd\u75c7\u4f8b\u306e\u5b58\u5728:<\/strong> \u77e5\u7684\u969c\u5bb3\u304c\u8efd\u5ea6\u3067\u3042\u3063\u305f\u308a\u3001\u6210\u4eba\u3059\u308b\u307e\u3067\u7cbe\u795e\u75c7\u72b6\u304c\u51fa\u306a\u304b\u3063\u305f\u308a\u3059\u308b\u5834\u5408\u3001\u691c\u67fb\u3092\u53d7\u3051\u305a\u306b\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u4e00\u65b9\u3067\u3001<strong>\u7d71\u5408\u5931\u8abf\u75c7<\/strong>\u306e\u60a3\u8005\u3055\u3093\u3092\u5bfe\u8c61\u306b\u907a\u4f1d\u5b50\u89e3\u6790\u3092\u884c\u3046\u3068\u3001\u3053\u306e\u6b20\u5931\u304c\u898b\u3064\u304b\u308b\u983b\u5ea6\u304c\u6709\u610f\u306b\u9ad8\u304f\u306a\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\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>3q29 deletion syndrome\u306e\u75c7\u72b6\u306f\u3001\u300c\u7cbe\u795e\u533b\u5b66\u7684\u7279\u5fb4\u300d\u300c\u795e\u7d4c\u767a\u9054\u75c7\u300d\u300c\u8eab\u4f53\u7684\u7279\u5fb4\u300d\u306e3\u3064\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u601d\u6625\u671f\u4ee5\u964d\u306e\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9\u306e\u554f\u984c\u304c\u3001\u3053\u306e\u75be\u60a3\u306e\u6700\u5927\u306e\u7279\u5fb4\u3067\u3042\u308a\u3001\u30e9\u30a4\u30d5\u30b9\u30c6\u30fc\u30b8\u3092\u901a\u3058\u305f\u30b1\u30a2\u306e\u8981\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u7cbe\u795e\u533b\u5b66\u7684\u7279\u5fb4\uff08\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9\uff09<\/strong><\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u3084\u672c\u4eba\u304c\u6700\u3082\u4e0d\u5b89\u306b\u611f\u3058\u3001\u304b\u3064\u6700\u3082\u6ce8\u610f\u6df1\u3044\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u306a\u9818\u57df\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7d71\u5408\u5931\u8abf\u75c7\uff08Schizophrenia\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u306e**\u7d0420%\u301c40%**\u304c\u3001\u601d\u6625\u671f\u304b\u3089\u6210\u4eba\u671f\u306b\u304b\u3051\u3066\u7d71\u5408\u5931\u8abf\u75c7\u307e\u305f\u306f\u7cbe\u795e\u75c5\u6027\u969c\u5bb3\u3092\u767a\u75c7\u3059\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306f\u4e00\u822c\u96c6\u56e3\u306e\u767a\u75c7\u7387\uff08\u7d041%\uff09\u306b\u6bd4\u3079\u3066<strong>40\u500d\u4ee5\u4e0a<\/strong>\u3068\u3044\u3046\u6975\u3081\u3066\u9ad8\u3044\u30ea\u30b9\u30af\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u75c7\u72b6:<\/strong> \u5e7b\u8074\u3001\u5984\u60f3\u3001\u601d\u8003\u306e\u307e\u3068\u307e\u308a\u306a\u3055\u3001\u610f\u6b32\u306e\u4f4e\u4e0b\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u524d\u99c6\u75c7\u72b6:<\/strong> \u672c\u683c\u7684\u306a\u767a\u75c7\u306e\u524d\u306b\u3001\u4e0d\u5b89\u306e\u5897\u5927\u3001\u5f15\u304d\u3053\u3082\u308a\u3001\u7761\u7720\u969c\u5bb3\u3001\u904e\u654f\u3055\u306a\u3069\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u65e9\u671f\u767a\u898b\u30fb\u65e9\u671f\u4ecb\u5165\u304c\u4e88\u5f8c\u3092\u6539\u5584\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u7cbe\u795e\u75c7\u72b6:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u4e0d\u5b89\u969c\u5bb3:<\/strong> \u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u304c\u3001\u5168\u822c\u6027\u4e0d\u5b89\u969c\u5bb3\u3084\u793e\u4f1a\u4e0d\u5b89\u969c\u5bb3\u3092\u62b1\u3048\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u53cc\u6975\u6027\u969c\u5bb3\uff08\u8e81\u3046\u3064\u75c5\uff09\u3084\u3046\u3064\u75c5\u306e\u30ea\u30b9\u30af\u3082\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\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>\u5e7c\u5c11\u671f\u304b\u3089\u5b66\u7ae5\u671f\u306b\u304b\u3051\u3066\u306e\u4e3b\u8a34\u3068\u306a\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>\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u5e45\u304c\u5e83\u304f\u3001\u5883\u754c\u57df\u3084\u6b63\u5e38\u77e5\u80fd\uff08Normal IQ\uff09\u306e\u60a3\u8005\u3055\u3093\u3082\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8a9e\u7684\u306a\u7406\u89e3\u529b\u306b\u6bd4\u3079\u3001\u51e6\u7406\u901f\u5ea6\u3084\u30ef\u30fc\u30ad\u30f3\u30b0\u30e1\u30e2\u30ea\u304c\u5f31\u3044\u306a\u3069\u306e\u300c\u8a8d\u77e5\u306e\u51f9\u51f8\u300d\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u6ede\uff08DD\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\uff08Speech delay\uff09\u3084\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u6b69\u884c\u958b\u59cb\u306f\u5e73\u5747\u3057\u306618\u30f6\u6708\u9803\u3068\u3084\u3084\u9045\u3081\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7d0430%\u301c40%\u306e\u60a3\u8005\u3055\u3093\u306b\u3001\u793e\u4f1a\u6027\u306e\u82e6\u624b\u3055\u3084\u3053\u3060\u308f\u308a\u3068\u3044\u3063\u305fASD\u7279\u6027\u304c\u898b\u3089\u308c\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>\u4e0d\u6ce8\u610f\u3084\u591a\u52d5\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\u7279\u5fb4\u30fb\u9854\u8c8c<\/strong><\/p>\n\n\n\n<p>\u300c\u3053\u306e\u75c5\u6c17\u7279\u6709\u300d\u3068\u3044\u3046\u5f37\u3044\u7279\u5fb4\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>\u51fa\u751f\u6642\u306e\u7279\u5fb4:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u51fa\u751f\u4f53\u91cd\uff08Low birth weight\uff09\uff1a<\/strong> \u5728\u80ce\u9031\u6570\u306b\u6bd4\u3079\u3066\u5c0f\u3055\u304f\u751f\u307e\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u54fa\u4e73\u56f0\u96e3\uff08Feeding difficulties\uff09\u306b\u3088\u308b\u4f53\u91cd\u5897\u52a0\u4e0d\u826f\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9854\u8c8c\uff08Craniofacial features\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9762\u9577\uff08\u9577\u3044\u9854\uff09\u3002<\/li>\n\n\n\n<li>\u9ad8\u3044\u9f3b\u6881\uff08\u9f3b\u7b4b\u304c\u901a\u3063\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li>\u77ed\u3044\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\uff09\u3002<\/li>\n\n\n\n<li>\u8033\u306e\u5f62\u306e\u7279\u5fb4\uff08\u5927\u304d\u306a\u8033\u3001\u56de\u65cb\u7570\u5e38\u306a\u3069\uff09\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>\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<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u8eab\u4f53\u5408\u4f75\u75c7:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u52d5\u8108\u7ba1\u958b\u5b58\u75c7\uff08PDA\uff09\u306a\u3069\u306e\u8efd\u5fae\u306a\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08\u7d0420%\uff09\u3002<\/li>\n\n\n\n<li><strong>\u6d88\u5316\u5668:<\/strong> \u80c3\u98df\u9053\u9006\u6d41\u75c7\uff08GERD\uff09\u3001\u4fbf\u79d8\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c:<\/strong> \u6f0f\u6597\u80f8\u3001\u810a\u67f1\u5074\u5f2f\u75c7\u3001\u6307\u306e\u5f62\u72b6\u7570\u5e38\uff08\u7d30\u9577\u3044\u6307\u306a\u3069\uff09\u3002<\/li>\n\n\n\n<li>\u514d\u75ab\u7cfb\u306e\u5f31\u3055\uff08\u98a8\u90aa\u3092\u3072\u304d\u3084\u3059\u3044\uff09\u3084\u3001\u30a2\u30c8\u30d4\u30fc\u6027\u76ae\u819a\u708e\u306a\u3069\u306e\u30a2\u30ec\u30eb\u30ae\u30fc\u4f53\u8cea\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\uff083q29\uff09\u306b\u304a\u3051\u308b\u7d041.6Mb\u306e\u5fae\u7d30\u6b20\u5931<\/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>3q29\u9818\u57df\u306e\u4e21\u7aef\u306b\u306f\u3001DNA\u914d\u5217\u304c\u305d\u3063\u304f\u308a\u306a\u30d6\u30ed\u30c3\u30af\uff08LCR\uff09\u304c\u5b58\u5728\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u969b\u3001\u3053\u306e\u305d\u3063\u304f\u308a\u306a\u914d\u5217\u540c\u58eb\u304c\u9593\u9055\u3063\u3066\u30da\u30a2\u3092\u7d44\u3093\u3067\u3057\u307e\u3044\u3001\u305d\u306e\u9593\u306e\u9818\u57df\u304c\u629c\u3051\u843d\u3061\u3066\u3057\u307e\u3046\uff08\u6b20\u5931\u3059\u308b\uff09\u3053\u3068\u3067\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u69cb\u9020\u7684\u306a\u300c\u8106\u3055\u300d\u306b\u3088\u308b\u3082\u306e\u3067\u3042\u308a\u3001\u89aa\u306e\u598a\u5a20\u4e2d\u306e\u884c\u52d5\u3084\u74b0\u5883\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5f62\u5f0f\u3068\u4e0d\u5b8c\u5168\u6d78\u900f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u30b1\u30fc\u30b9\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u7a81\u7136\u5909\u7570\u3067\u767a\u751f\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08Inherited\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e00\u90e8\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001<strong>\u89aa\u304b\u3089\u306e\u907a\u4f1d<\/strong>\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e0d\u5b8c\u5168\u6d78\u900f\uff08Incomplete Penetrance\uff09\uff1a<\/strong> \u3053\u3053\u304c\u91cd\u8981\u3067\u3059\u3002\u89aa\u304c\u540c\u30583q29\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u89aa\u306f\u300c\u8efd\u5ea6\u306e\u5b66\u7fd2\u969c\u5bb3\u306e\u307f\u300d\u3084\u300c\u5c11\u3057\u5fc3\u914d\u6027\u306a\u6027\u683c\u300d\u7a0b\u5ea6\u3067\u3001\u7d71\u5408\u5931\u8abf\u75c7\u306a\u3069\u306e\u91cd\u3044\u75c7\u72b6\u3092\u767a\u75c7\u3057\u3066\u3044\u306a\u3044\uff08\u7121\u75c7\u72b6\u306b\u8fd1\u3044\uff09\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u5065\u5e38\u3067\u3042\u3063\u3066\u3082\u3001\u5b50\u306b\u6b20\u5931\u304c\u53d7\u3051\u7d99\u304c\u308c\u305f\u5834\u5408\u3001\u5b50\u306e\u75c7\u72b6\u304c\u3069\u3046\u306a\u308b\u304b\uff08\u91cd\u304f\u306a\u308b\u304b\u8efd\u304f\u306a\u308b\u304b\uff09\u306f\u4e88\u6e2c\u304c\u96e3\u3057\u3044\u90e8\u5206\u304c\u3042\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>\u8eab\u4f53\u7684\u7279\u5fb4\u304c\u5c11\u306a\u3044\u305f\u3081\u3001\u767a\u9054\u9045\u6ede\u3084\u7cbe\u795e\u75c7\u72b6\u306e\u7cbe\u67fb\u3068\u3057\u3066\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u884c\u308f\u308c\u3001\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\u6b20\u5931\u3092\u78ba\u5b9f\u306b\u691c\u51fa\u3057\u3001\u305d\u306e\u7bc4\u56f2\u306b<em>DLG1<\/em>\u3084<em>PAK2<\/em>\u306a\u3069\u306e\u91cd\u8981\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e00\u822c\u7684\u306aG\u30d0\u30f3\u30c9\u691c\u67fb\u3067\u306f\u898b\u9003\u3055\u308c\u308b\u5fae\u7d30\u306a\u6b20\u5931\u3067\u3042\u308b\u305f\u3081\u3001CMA\u304c\u5fc5\u9808\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>\u8a3a\u65ad\u78ba\u5b9a\u5f8c\u3001\u4e21\u89aa\u306e\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5bb6\u65cf\u6027\u304b\u7a81\u7136\u5909\u7570\u304b\u3092\u77e5\u308b\u3053\u3068\u306f\u3001\u6b21\u5b50\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\u3084\u3001\u89aa\u81ea\u8eab\uff08\u3082\u3057\u4fdd\u56e0\u8005\u3060\u3063\u305f\u5834\u5408\uff09\u306e\u5065\u5eb7\u7ba1\u7406\u306b\u304a\u3044\u3066\u3082\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6b20\u5931\u3057\u305f\u67d3\u8272\u4f53\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u30e9\u30a4\u30d5\u30b9\u30c6\u30fc\u30b8\u3054\u3068\u306e\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u7cbe\u795e\u767a\u9054\u9762\u3067\u306e\u4e88\u9632\u7684\u4ecb\u5165\u30fb\u30b5\u30dd\u30fc\u30c8\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u7cbe\u795e\u533b\u5b66\u7684\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff08\u4e88\u9632\u3068\u65e9\u671f\u4ecb\u5165\uff09<\/strong><\/p>\n\n\n\n<p><strong>\u3053\u306e\u75be\u60a3\u306e\u7ba1\u7406\u306b\u304a\u3044\u3066\u6700\u3082\u91cd\u8981\u306a\u30d1\u30fc\u30c8\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b9a\u671f\u7684\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u601d\u6625\u671f\uff0810\u4ee3\u524d\u534a\u301c\uff09\u4ee5\u964d\u306f\u3001\u7cbe\u795e\u72b6\u614b\u306e\u5909\u5316\u306b\u6ce8\u610f\u3092\u6255\u3046\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u300c\u7720\u308c\u306a\u3044\u300d\u300c\u4e0d\u5b89\u304c\u5f37\u3044\u300d\u300c\u97f3\u306b\u904e\u654f\u306b\u306a\u3063\u305f\u300d\u300c\u72ec\u308a\u8a00\u304c\u5897\u3048\u305f\u300d\u306a\u3069\u306e\u30b5\u30a4\u30f3\u304c\u3042\u308c\u3070\u3001\u65e9\u3081\u306b\u5c02\u9580\u533b\uff08\u5150\u7ae5\u7cbe\u795e\u79d1\u306a\u3069\uff09\u306b\u76f8\u8ac7\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u65e9\u671f\u4ecb\u5165:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3082\u3057\u7cbe\u795e\u75c5\u75c7\u72b6\u306e\u524d\u5146\u304c\u898b\u3089\u308c\u305f\u5834\u5408\u3001\u65e9\u671f\u306b\u85ac\u7269\u7642\u6cd5\u3084\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u958b\u59cb\u3059\u308b\u3053\u3068\u3067\u3001\u91cd\u75c7\u5316\u3092\u9632\u304e\u3001\u793e\u4f1a\u6a5f\u80fd\u3092\u7dad\u6301\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30b9\u30c8\u30ec\u30b9\u30de\u30cd\u30b8\u30e1\u30f3\u30c8\u3084\u3001\u74b0\u5883\u8abf\u6574\uff08\u7121\u7406\u306e\u306a\u3044\u9032\u8def\u9078\u629e\u306a\u3069\uff09\u3082\u91cd\u8981\u3067\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>\u8a00\u8449\u3084\u904b\u52d5\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5b66\u7fd2\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u304c\u8efd\u5ea6\u3067\u3082\u3001\u7279\u5b9a\u306e\u5b66\u7fd2\uff08\u8aad\u307f\u66f8\u304d\u3084\u7b97\u6570\u306a\u3069\uff09\u306b\u82e6\u624b\u3055\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u500b\u5225\u306e\u6559\u80b2\u652f\u63f4\u8a08\u753b\u306b\u57fa\u3065\u3044\u305f\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SST\uff08\u30bd\u30fc\u30b7\u30e3\u30eb\u30b9\u30ad\u30eb\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>ASD\u7279\u6027\u3084\u4e0d\u5b89\u306b\u5bfe\u3057\u3001\u5bfe\u4eba\u95a2\u4fc2\u306e\u30b9\u30ad\u30eb\u3084\u611f\u60c5\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u65b9\u6cd5\u3092\u5b66\u3073\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u8eab\u4f53\u5408\u4f75\u75c7\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5faa\u74b0\u5668\u30fb\u6d88\u5316\u5668:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u6642\u306b\u5fc3\u30a8\u30b3\u30fc\u306a\u3069\u3067\u30c1\u30a7\u30c3\u30af\u3092\u884c\u3044\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u6cbb\u7642\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u54fa\u4e73\u56f0\u96e3\u3084\u80c3\u98df\u9053\u9006\u6d41\u306b\u5bfe\u3057\u3066\u306f\u3001\u6804\u990a\u6307\u5c0e\u3084\u85ac\u7269\u7642\u6cd5\u3092\u884c\u3044\u307e\u3059\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>\u60c5\u5831\u306e\u6574\u7406\u3068\u53d7\u5bb9:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u300c\u7d71\u5408\u5931\u8abf\u75c7\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u300d\u3068\u3044\u3046\u60c5\u5831\u306f\u3001\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u975e\u5e38\u306b\u91cd\u3044\u3082\u306e\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3057\u304b\u3057\u3001\u300c\u5fc5\u305a\u767a\u75c7\u3059\u308b\u308f\u3051\u3067\u306f\u306a\u3044\uff08\u4e0d\u5b8c\u5168\u6d78\u900f\uff09\u300d\u3053\u3068\u3001\u300c\u767a\u75c7\u3057\u3066\u3082\u6cbb\u7642\u6cd5\u304c\u3042\u308b\u300d\u3053\u3068\u3001\u300c\u30ea\u30b9\u30af\u3092\u77e5\u3063\u3066\u3044\u308b\u304b\u3089\u3053\u305d\u3001\u65e9\u671f\u767a\u898b\u30fb\u65e9\u671f\u6cbb\u7642\u3068\u3044\u3046\u6700\u5f37\u306e\u5bfe\u7b56\u304c\u6253\u3066\u308b\u300d\u3053\u3068\u3092\u7406\u89e3\u3057\u3001\u524d\u5411\u304d\u306b\u5099\u3048\u308b\u305f\u3081\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u3078\u306e\u30b1\u30a2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u4fdd\u56e0\u8005\u3060\u3063\u305f\u5834\u5408\u306e\u7f6a\u60aa\u611f\u306e\u8efd\u6e1b\u3084\u3001\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u8aac\u660e\u306b\u3064\u3044\u3066\u3082\u76f8\u8ac7\u3057\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 deletion syndrome\u306f\u30013\u756a\u67d3\u8272\u4f53\u306e\u3054\u304f\u4e00\u90e8\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u4f53\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3054\u5bb6\u65cf\u306f\u3001\u7279\u306b\u300c\u5fc3\u306e\u75c5\u6c17\uff08\u7d71\u5408\u5931\u8abf\u75c7\u306a\u3069\uff09\u300d\u3068\u306e\u95a2\u9023\u306b\u3064\u3044\u3066\u805e\u304d\u3001\u5927\u304d\u306a\u4e0d\u5b89\u3092\u611f\u3058\u3089\u308c\u3066\u3044\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u78ba\u304b\u306b\u3001\u3053\u306e\u6b20\u5931\u3092\u6301\u3064\u65b9\u306f\u3001\u6301\u305f\u306a\u3044\u65b9\u306b\u6bd4\u3079\u3066\u5c06\u6765\u7684\u306b\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9\u306e\u4e0d\u8abf\u3092\u304d\u305f\u3059\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u300c\u904b\u547d\u304c\u6c7a\u307e\u3063\u3066\u3044\u308b\u300d\u3068\u3044\u3046\u3053\u3068\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u300c\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u300d\u3068\u3042\u3089\u304b\u3058\u3081\u5206\u304b\u3063\u3066\u3044\u308b\u3053\u3068\u306f\u3001\u5b9f\u306f\u5927\u304d\u306a\u30a2\u30c9\u30d0\u30f3\u30c6\u30fc\u30b8\u306b\u306a\u308a\u307e\u3059\u3002\u306a\u305c\u306a\u3089\u3001\u4ed6\u306e\u4eba\u306a\u3089\u898b\u904e\u3054\u3057\u3066\u3057\u307e\u3046\u3088\u3046\u306a\u5c0f\u3055\u306a\u30b5\u30a4\u30f3\uff08\u4e0d\u5b89\u3084\u4e0d\u7720\u306a\u3069\uff09\u306b\u65e9\u671f\u306b\u6c17\u3065\u304d\u3001\u5c02\u9580\u533b\u3068\u3064\u306a\u304c\u3063\u3066\u3001\u3054\u304f\u521d\u671f\u306e\u6bb5\u968e\u3067\u30b1\u30a2\u3092\u59cb\u3081\u3089\u308c\u308b\u304b\u3089\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u65e9\u671f\u306b\u5bfe\u5fdc\u3059\u308c\u3070\u3059\u308b\u307b\u3069\u3001\u5fc3\u306e\u5065\u5eb7\u306f\u5b88\u3089\u308c\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u8eab\u4f53\u7684\u306b\u306f\u5927\u304d\u306a\u75c5\u6c17\u3092\u6301\u305f\u306a\u3044\u65b9\u3082\u591a\u304f\u3001\u7642\u80b2\u3084\u652f\u63f4\u3092\u53d7\u3051\u306a\u304c\u3089\u5b66\u6821\u751f\u6d3b\u3092\u9001\u308a\u3001\u793e\u4f1a\u306b\u51fa\u3066\u3044\u308b\u65b9\u3082\u305f\u304f\u3055\u3093\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5e7c\u5c11\u671f\u306f\u767a\u9054\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u3001\u601d\u6625\u671f\u4ee5\u964d\u306f\u5fc3\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u4e2d\u5fc3\u306b\u3002<\/p>\n\n\n\n<p>\u300c\u4f55\u304b\u3042\u3063\u305f\u3089\u3059\u3050\u306b\u76f8\u8ac7\u3067\u304d\u308b\u5c02\u9580\u5bb6\u300d\u3092\u5473\u65b9\u306b\u3064\u3051\u3066\u3001\u304a\u5b50\u3055\u3093\u306e\u7e4a\u7d30\u306a\u611f\u53d7\u6027\u3092\u5b88\u308a\u306a\u304c\u3089\u3001\u305d\u306e\u6210\u9577\u3092\u6e29\u304b\u304f\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>Mulle, J.G., et al.<\/strong> (2010). <em>Microdeletions of 3q29 confer high risk for schizophrenia.<\/em> American Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b3q29\u6b20\u5931\u304c\u7d71\u5408\u5931\u8abf\u75c7\u306e\u975e\u5e38\u306b\u5f37\u529b\u306a\u30ea\u30b9\u30af\u56e0\u5b50\u3067\u3042\u308b\u3053\u3068\u3092\u5927\u898f\u6a21\u306a\u907a\u4f1d\u5b66\u7684\u89e3\u6790\u3067\u521d\u3081\u3066\u6c7a\u5b9a\u3065\u3051\u305f\u3001\u672c\u75be\u60a3\u306b\u304a\u3051\u308b\u6700\u3082\u91cd\u8981\u306a\u8ad6\u6587\u306e\u4e00\u3064\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Glassford, M.R., et al.<\/strong> (2016). <em>Phenotypic spectrum of the recurrent 3q29 deletion.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b3q29\u6b20\u5931\u3092\u6301\u3064\u60a3\u8005\u306e\u81e8\u5e8a\u75c7\u72b6\uff08\u8eab\u4f53\u7279\u5fb4\u3001\u767a\u9054\u3001\u7cbe\u795e\u75c7\u72b6\uff09\u3092\u8a73\u7d30\u306b\u8abf\u67fb\u3057\u3001\u305d\u306e\u591a\u69d8\u306a\u8868\u73fe\u578b\uff08\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff09\u3092\u660e\u3089\u304b\u306b\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Sanchez Russo, R., et al.<\/strong> (2021). <em>The 3q29 deletion confers >40-fold increase in risk for schizophrenia.<\/em> Molecular Psychiatry.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u6700\u65b0\u306e\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u304d\u30013q29\u6b20\u5931\u306b\u3088\u308b\u7d71\u5408\u5931\u8abf\u75c7\u30ea\u30b9\u30af\u306e\u5927\u304d\u3055\u3092\u518d\u8a55\u4fa1\u3057\u3001\u4e88\u9632\u7684\u4ecb\u5165\u306e\u91cd\u8981\u6027\u3092\u5f37\u8abf\u3057\u305f\u7814\u7a76\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>(\u203b3q29\u6b20\u5931\u75c7\u5019\u7fa4\u3092\u65b0\u3057\u3044\u75be\u60a3\u5358\u4f4d\u3068\u3057\u3066\u521d\u3081\u3066\u63d0\u5531\u3057\u305f\u8ad6\u6587\u3002\u57fa\u672c\u7684\u306a\u8eab\u4f53\u7279\u5fb4\u3084\u907a\u4f1d\u5b50\u69cb\u9020\u306b\u3064\u3044\u3066\u8a18\u8ff0\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>3q29 deletion syndrome<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u767a\u9054\u306e\u7d4c\u904e\u3001\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9\u3078\u306e\u6ce8\u610f\u70b9\u3001\u5b66\u6821\u751f\u6d3b\u3067\u306e\u914d\u616e\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>The 3q29 Project (Emory University)<\/strong>: <em>Information for Families.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b3q29\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u7279\u5316\u3057\u305f\u7814\u7a76\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u306b\u3088\u308b\u3001\u5bb6\u65cf\u5411\u3051\u306e\u6700\u65b0\u60c5\u5831\u3068\u30ac\u30a4\u30c0\u30f3\u30b9\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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