{"id":17044,"date":"2026-01-21T05:27:31","date_gmt":"2026-01-21T05:27:31","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17044"},"modified":"2026-01-21T05:27:59","modified_gmt":"2026-01-21T05:27:59","slug":"3q13-31-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/3q13-31-deletion-syndrome\/","title":{"rendered":"3q13.31 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>3q13.31\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>3q13.31\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff083q13.31 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>3q13.31\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 3q13.31\uff09<\/li>\n\n\n\n<li>3q13\u6b20\u5931\u75c7\u5019\u7fa4\uff083q13 deletion syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u3088\u308a\u5e83\u7bc4\u56f2\u306a\u6b20\u5931\u306e\u4e00\u90e8\u3068\u3057\u3066\u6271\u308f\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u73fe\u5728\u306f3q13.31\u306b\u9650\u5c40\u3057\u305f\u7279\u5fb4\u7684\u306a\u75c7\u5019\u7fa4\u3068\u3057\u3066\u533a\u5225\u3055\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\uff0913.31\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\u4ed8\u3051\u6839\u306b\u8fd1\u3044\u300c13.31\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>3q13.31\u9818\u57df\u306e\u6b20\u5931\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u6570\u767e\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u304b\u3089\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u306e\u7814\u7a76\u306b\u3088\u308a\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\uff08\u8868\u73fe\u578b\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u305f\u3081\u306b\u5171\u901a\u3057\u3066\u6b20\u5931\u3057\u3066\u3044\u308b\u9818\u57df\uff08Shortest Region of Overlap: SRO\uff09\u304c\u7279\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u300c\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\uff08\u8cac\u4efb\u9818\u57df\uff09\u300d\u306b\u306f\u3001\u8133\u306e\u767a\u9054\u3084\u6a5f\u80fd\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u3044\u304f\u3064\u304b\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3068\u305d\u306e\u5f79\u5272\u3011<\/p>\n\n\n\n<p>\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff08\u91cf\u304c\u534a\u5206\u306b\u306a\u308b\u3053\u3068\uff09\u304c\u3001\u75c7\u72b6\u5f62\u6210\u306b\u5927\u304d\u304f\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>DRD3 (Dopamine Receptor D3):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u9375\u3068\u306a\u308b\u907a\u4f1d\u5b50<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u5185\u306e\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u3067\u3042\u308b\u30c9\u30fc\u30d1\u30df\u30f3\u3092\u53d7\u3051\u53d6\u308b\u53d7\u5bb9\u4f53\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u611f\u60c5\u306e\u5236\u5fa1\u3001\u52d5\u6a5f\u3065\u3051\u3001\u904b\u52d5\u6a5f\u80fd\u3001\u8a8d\u77e5\u6a5f\u80fd\u306b\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306f\u3001\u672c\u75c7\u5019\u7fa4\u3067\u898b\u3089\u308c\u308b**\u300c\u591a\u52d5\uff08ADHD\uff09\u300d<strong>\u3084<\/strong>\u300c\u81ea\u9589\u50be\u5411\u300d<strong>\u3001<\/strong>\u300c\u7761\u7720\u969c\u5bb3\u300d**\u306a\u3069\u306e\u884c\u52d5\u7279\u6027\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ZBTB20 (Zinc Finger And BTB Domain Containing 20):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u3082\u91cd\u8981\u306a\u8cac\u4efb\u907a\u4f1d\u5b50<\/strong>\u306e\u4e00\u3064\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u306e\u6d77\u99ac\u3084\u5927\u8133\u76ae\u8cea\u306e\u767a\u9054\u3001\u304a\u3088\u3073\u8eab\u4f53\u306e\u4ee3\u8b1d\u3084\u6210\u9577\u3092\u5236\u5fa1\u3059\u308b\u8ee2\u5199\u56e0\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong> \u77e5\u7684\u969c\u5bb3\u3001\u767a\u9054\u9045\u6ede\u3001\u305d\u3057\u3066\u672c\u75c7\u5019\u7fa4\u306b\u7279\u5fb4\u7684\u306a**\u300c\u9854\u8c8c\uff08\u77ed\u3044\u4eba\u4e2d\u3001\u539a\u3044\u5507\uff09\u300d<strong>\u3084<\/strong>\u300c\u904e\u6210\u9577\uff08\u65b0\u751f\u5150\u671f\u4ee5\u964d\u306e\u4f53\u91cd\u5897\u52a0\uff09\u300d**\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u203b\u53c2\u8003: \u3053\u306e\u907a\u4f1d\u5b50\u306e\u70b9\u5909\u7570\u306f\u300c\u30d7\u30ea\u30e0\u30ed\u30fc\u30ba\u75c7\u5019\u7fa4\uff08Primrose syndrome\uff09\u300d\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u304c\u3001\u6b20\u5931\uff08\u672c\u75be\u60a3\uff09\u3068\u306f\u75c7\u72b6\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>LSAMP (Limbic System-Associated Membrane Protein):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u5927\u8133\u8fba\u7e01\u7cfb\uff08\u611f\u60c5\u3084\u8a18\u61b6\u3092\u53f8\u308b\u90e8\u5206\uff09\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3042\u308a\u3001\u60c5\u52d5\u8abf\u7bc0\u3084\u884c\u52d5\u9762\u3078\u306e\u5f71\u97ff\u304c\u8003\u3048\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GAP43 (Growth Associated Protein 43):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u795e\u7d4c\u7d30\u80de\u306e\u6210\u9577\u3084\u53ef\u5851\u6027\uff08\u5b66\u7fd2\u80fd\u529b\uff09\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u6975\u3081\u3066\u7a00\uff08Ultra-rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>2011\u5e74\u301c2012\u5e74\u9803\u306b\u75be\u60a3\u6982\u5ff5\u304c\u78ba\u7acb\u3055\u308c\u305f\u6bd4\u8f03\u7684\u65b0\u3057\u3044\u75c7\u5019\u7fa4\u3067\u3042\u308a\u3001\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u306b\u304a\u3051\u308b\u8a73\u7d30\u306a\u75c7\u4f8b\u5831\u544a\u6570\u306f\u6570\u5341\u4f8b\u898f\u6a21\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u300c\u767a\u751f\u3057\u3066\u3044\u306a\u3044\u300d\u306e\u3067\u306f\u306a\u304f\u3001\u4ee5\u4e0b\u306e\u7406\u7531\u306b\u3088\u308b**\u300c\u904e\u5c11\u8a3a\u65ad\uff08Underdiagnosis\uff09\u300d**\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u75c7\u72b6\u306e\u7279\u7570\u6027\u304c\u4f4e\u3044:<\/strong> \u91cd\u7be4\u306a\u8eab\u4f53\u5947\u5f62\u3092\u4f34\u308f\u306a\u3044\u3053\u3068\u304c\u591a\u304f\u3001\u5358\u306a\u308b\u300c\u767a\u9054\u9045\u6ede\u300d\u3084\u300c\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u300d\u3068\u3057\u3066\u8a3a\u65ad\u3055\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u691c\u67fb\u6280\u8853:<\/strong> \u4e00\u822c\u7684\u306aG\u30d0\u30f3\u30c9\u67d3\u8272\u4f53\u691c\u67fb\u3067\u306f\u898b\u9003\u3055\u308c\u308b\u307b\u3069\u5fae\u7d30\u306a\u6b20\u5931\u3067\u3042\u308b\u5834\u5408\u304c\u591a\u304f\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u3092\u884c\u308f\u306a\u3044\u3068\u767a\u898b\u3067\u304d\u307e\u305b\u3093\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>3q13.31 deletion syndrome\u306e\u75c7\u72b6\u306f\u3001\u300c\u767a\u9054\u9045\u6ede\u300d\u300c\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u3001\u305d\u3057\u3066\u6210\u9577\u306b\u4f34\u3063\u3066\u9855\u5728\u5316\u3059\u308b**\u300c\u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u554f\u984c\u300d**\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u7be4\u306a\u5185\u81d3\u5947\u5f62\u306e\u5408\u4f75\u7387\u306f\u6bd4\u8f03\u7684\u4f4e\u3044\u3068\u3055\u308c\u3066\u3044\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>\u307b\u307c\u5168\u4f8b\u3067\u3001\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5168\u822c\u7684\u767a\u9054\u9045\u6ede\uff08GDD\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u306f\u3044\u306f\u3044\u3001\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b69\u884c\u958b\u59cb\u306f2\u6b73\u301c3\u6b73\u9803\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306f\u72ec\u6b69\u3092\u7372\u5f97\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u91cd\u5ea6\u306e\u8a00\u8a9e\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u3082\u9855\u8457\u306a\u75c7\u72b6<\/strong>\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u7406\u89e3\uff08\u53d7\u5bb9\u8a00\u8a9e\uff09\u306b\u6bd4\u3079\u3066\u3001\u8a00\u8449\u3092\u8a71\u3059\u3053\u3068\uff08\u8868\u51fa\u8a00\u8a9e\uff09\u304c\u8457\u3057\u304f\u9045\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6570\u8a9e\u306e\u5358\u8a9e\u306e\u307f\u3067\u4f1a\u8a71\u304c\u96e3\u3057\u3044\u30b1\u30fc\u30b9\u3084\u3001\u767a\u8a9e\u304c\u306a\u3044\uff08Non-verbal\uff09\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u5834\u5408\u3001\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u300c\u306a\u3093\u3068\u306a\u304f\u4f3c\u3066\u3044\u308b\u300d\u3068\u3044\u3046\u5171\u901a\u3057\u305f\u96f0\u56f2\u6c17\uff08Gestalt\uff09\u304c\u3042\u308a\u307e\u3059\u3002\u6210\u9577\u3068\u3068\u3082\u306b\u7279\u5fb4\u304c\u306f\u3063\u304d\u308a\u3057\u3066\u304f\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77ed\u3044\u4eba\u4e2d\uff08Short philtrum\uff09\uff1a<\/strong> \u9f3b\u306e\u4e0b\u304c\u77ed\u3044\u3002<\/li>\n\n\n\n<li><strong>\u539a\u304f\u7a81\u51fa\u3057\u305f\u5507\uff08Prominent lips\uff09\uff1a<\/strong> \u7279\u306b\u4e0b\u5507\u304c\u539a\u304f\u3001\u3075\u3063\u304f\u3089\u3068\u3057\u3066\u3044\u307e\u3059\u3002\u4e0a\u5507\u304c\u5c71\u578b\uff08Cupid&#8217;s bow\uff09\u306b\u306a\u3063\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u306e\u7279\u5fb4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li>\u6df1\u304f\u304f\u307c\u3093\u3060\u76ee\uff08Deep-set eyes\uff09\u3002<\/li>\n\n\n\n<li>\u773c\u77bc\u88c2\u72ed\u5c0f\uff08\u76ee\u304c\u7d30\u3044\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9ad8\u3044\u524d\u982d\u90e8\u3001\u9ad8\u53e3\u84cb\uff08\u53e3\u306e\u4e2d\u306e\u5929\u4e95\u304c\u9ad8\u3044\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7279\u6027\uff08Behavioral phenotype\uff09<\/strong><\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u5c31\u5b66\u671f\u4ee5\u964d\u306e\u751f\u6d3b\u7ba1\u7406\u306b\u304a\u3044\u3066\u6700\u3082\u91cd\u8981\u306a\u8ab2\u984c\u3068\u306a\u308b\u90e8\u5206\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\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\u3001\u4e0d\u6ce8\u610f\u3001\u885d\u52d5\u6027\u304c\u9ad8\u983b\u5ea6\u3067\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u793e\u4f1a\u7684\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u96e3\u3057\u3055\u3001\u3053\u3060\u308f\u308a\u3001\u5e38\u540c\u884c\u52d5\u306a\u3069\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u884c\u52d5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e0d\u5b89\u306e\u5f37\u3055\u3001\u653b\u6483\u7684\u306a\u884c\u52d5\uff08\u304b\u3093\u3057\u3083\u304f\uff09\u3001\u81ea\u50b7\u884c\u70ba\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><em>DRD3<\/em>\u907a\u4f1d\u5b50\u306a\u3069\u306e\u6b20\u5931\u306b\u3088\u308b\u8133\u5185\u30db\u30eb\u30e2\u30f3\u30d0\u30e9\u30f3\u30b9\u306e\u5f71\u97ff\u304c\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7761\u7720\u969c\u5bb3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5165\u7720\u56f0\u96e3\u3084\u4e2d\u9014\u899a\u9192\u306a\u3069\u3001\u7761\u7720\u30ea\u30ba\u30e0\u306e\u554f\u984c\u3092\u62b1\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u6210\u9577<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5e7c\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u304f\uff08\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\uff09\u3001\u54fa\u4e73\u56f0\u96e3\u3084\u904b\u52d5\u767a\u9054\u9045\u6ede\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6210\u9577\u30d1\u30bf\u30fc\u30f3\uff08\u904e\u6210\u9577\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e00\u90e8\u306e\u60a3\u8005\u3055\u3093\u3067\u306f\u3001\u51fa\u751f\u6642\u306f\u6b63\u5e38\u307e\u305f\u306f\u5c0f\u3055\u3081\u3067\u3082\u3001\u5e7c\u5150\u671f\u4ee5\u964d\u306b\u8eab\u9577\u306e\u4f38\u3073\u304c\u826f\u304f\u3001\u4f53\u91cd\u304c\u5897\u3048\u3084\u3059\u3044\uff08\u904e\u6210\u9577\u30fb\u80a5\u6e80\u50be\u5411\uff09\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f<em>ZBTB20<\/em>\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u306e\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9aa8\u683c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u810a\u67f1\u5074\u5f2f\u75c7\u3001\u95a2\u7bc0\u306e\u904e\u4f38\u5c55\uff08\u4f53\u304c\u67d4\u3089\u304b\u3044\uff09\u3001\u5c0f\u3055\u306a\u624b\u8db3\u306a\u3069\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u751f\u6b96\u5668\uff08\u7537\u5150\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u505c\u7559\u7cbe\u5de3\uff08\u30bf\u30de\u304c\u964d\u308a\u3066\u3053\u306a\u3044\uff09\u3001\u5c0f\u9670\u830e\u3001\u5c3f\u9053\u4e0b\u88c2\u306a\u3069\u304c\u9ad8\u983b\u5ea6\u3067\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<p>\u5185\u81d3\u5947\u5f62\u306e\u5408\u4f75\u306f\u5fc5\u9808\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1:<\/strong> \u659c\u8996\u3001\u9060\u8996\u3001\u8fd1\u8996\u3002<\/li>\n\n\n\n<li><strong>\u8074\u899a:<\/strong> \u6ef2\u51fa\u6027\u4e2d\u8033\u708e\u306b\u3088\u308b\u96e3\u8074\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u814e\u30fb\u6ccc\u5c3f\u5668:<\/strong> \u814e\u81d3\u306e\u69cb\u9020\u7570\u5e38\uff08\u7a00\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>3\u756a\u67d3\u8272\u4f53\u9577\u8155\uff083q13.31\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u30cf\u30d7\u30ed\u4e0d\u5168\u306e\u30e1\u30ab\u30cb\u30ba\u30e0<\/strong><\/p>\n\n\n\n<p>\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u3001\u305d\u3053\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u304c1\u30bb\u30c3\u30c8\uff08\u7247\u89aa\u5206\uff09\u3057\u304b\u306a\u304f\u306a\u308a\u3001\u4f5c\u3089\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u534a\u5206\u306b\u306a\u3063\u3066\u3057\u307e\u3046\u72b6\u614b\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><em>ZBTB20<\/em>\u304c\u4e0d\u8db3\u3059\u308b\u3053\u3068\u3067\u8133\u306e\u69cb\u7bc9\u3084\u4ee3\u8b1d\u306b\u5f71\u97ff\u304c\u51fa\u307e\u3059\u3002<\/li>\n\n\n\n<li>DRD3\u304c\u4e0d\u8db3\u3059\u308b\u3053\u3068\u3067\u3001\u60c5\u52d5\u3084\u884c\u52d5\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u96e3\u3057\u304f\u306a\u308a\u307e\u3059\u3002<br>\u3053\u308c\u3089\u304c\u8907\u5408\u7684\u306b\u4f5c\u7528\u3057\u3066\u3001\u672c\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u751f\u6a5f\u5e8f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>3q13.31\u6b20\u5931\u75c7\u5019\u7fa4\u306e<strong>\u5927\u591a\u6570<\/strong>\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\uff08\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6642\u3001\u307e\u305f\u306f\u53d7\u7cbe\u76f4\u5f8c\uff09\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306e\u5e74\u9f62\u3084\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u7fd2\u6163\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u975e\u5e38\u306b\u4f4e\u3044\uff08\u4e00\u822c\u96c6\u56e3\u3068\u540c\u7a0b\u5ea6\u301c1%\u672a\u6e80\uff09\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>NAHR\uff08\u975e\u30a2\u30ea\u30eb\u9593\u540c\u6e90\u7d44\u63db\u3048\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u306e\u67d3\u8272\u4f53\u9818\u57df\u306b\u306f\u3001DNA\u914d\u5217\u304c\u4f3c\u3066\u3044\u308b\u30d6\u30ed\u30c3\u30af\uff08\u5206\u7bc0\u91cd\u8907\uff09\u304c\u5b58\u5728\u3057\u306a\u3044\u304b\u3001\u3042\u308b\u3044\u306f\u5c11\u306a\u3044\u305f\u3081\u3001\u7279\u5b9a\u306e\u5834\u6240\u3067\u5207\u308c\u3084\u3059\u3044\u3068\u3044\u3046\u3088\u308a\u306f\u3001\u60a3\u8005\u3055\u3093\u3054\u3068\u306b\u6b20\u5931\u3059\u308b\u7bc4\u56f2\u304c\u7570\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\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>\u81e8\u5e8a\u75c7\u72b6\u3060\u3051\u3067\u306f\u8a3a\u65ad\u304c\u96e3\u3057\u304f\u3001\u767a\u9054\u9045\u6ede\u306e\u539f\u56e0\u7cbe\u67fb\u3068\u3057\u3066\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>3q13.31\u9818\u57df\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\uff08bp\u5358\u4f4d\uff09\u3068\u3001<em>DRD3<\/em>\u3084<em>ZBTB20<\/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>\u5f93\u6765\u306eG\u30d0\u30f3\u30c9\u691c\u67fb\u3067\u306f\u3001\u6b20\u5931\u304c\u5c0f\u3055\u3059\u304e\u308b\u5834\u5408\u306b\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001CMA\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08FISH\u6cd5 \/ CMA\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u304a\u5b50\u3055\u3093\u306e\u8a3a\u65ad\u78ba\u5b9a\u5f8c\u3001\u305d\u308c\u304c\u300c\u7a81\u7136\u5909\u7570\u300d\u306a\u306e\u304b\u300c\u89aa\u306e\u5747\u8861\u578b\u8ee2\u5ea7\u7531\u6765\u300d\u306a\u306e\u304b\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u6b21\u5b50\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\u306b\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\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u751f\u6d3b\u80fd\u529b\u3092\u5411\u4e0a\u3055\u305b\u308b\u305f\u3081\u306e**\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. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u767a\u9054\u9045\u6ede\u306b\u5bfe\u3057\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3092\u65e9\u671f\u304b\u3089\u958b\u59cb\u3057\u3001\u7c97\u5927\u904b\u52d5\uff08\u6b69\u884c\u306a\u3069\uff09\u3084\u5fae\u7d30\u904b\u52d5\uff08\u624b\u5148\uff09\u306e\u767a\u9054\u3092\u4fc3\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><strong>\u6700\u91cd\u8981\u8ab2\u984c\u306e\u4e00\u3064<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u9045\u308c\u304c\u9855\u8457\u306a\u305f\u3081\u3001\u767a\u8a9e\u306e\u8a13\u7df4\u3060\u3051\u3067\u306a\u304f\u3001\u30b5\u30a4\u30f3\u3001\u7d75\u30ab\u30fc\u30c9\uff08PECS\uff09\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u306a\u3069\u306e**AAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09**\u3092\u5c0e\u5165\u3057\u3001\u300c\u4f1d\u3048\u308b\u624b\u6bb5\u300d\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u4e0d\u5168\u306b\u3088\u308b\u884c\u52d5\u4e0a\u306e\u554f\u984c\uff08\u304b\u3093\u3057\u3083\u304f\uff09\u3092\u6e1b\u3089\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u30b1\u30a2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u74b0\u5883\u8abf\u6574:<\/strong>\n<ul class=\"wp-block-list\">\n<li>ADHD\u3084\u81ea\u9589\u50be\u5411\u304c\u3042\u308b\u5834\u5408\u3001\u523a\u6fc0\u306e\u5c11\u306a\u3044\u74b0\u5883\u3092\u4f5c\u3063\u305f\u308a\u3001\u898b\u901a\u3057\u306e\u7acb\u3064\u30b9\u30b1\u30b8\u30e5\u30fc\u30eb\u63d0\u793a\u3092\u884c\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u85ac\u7269\u7642\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u52d5\u3001\u885d\u52d5\u6027\u3001\u4e0d\u5b89\u3001\u7761\u7720\u969c\u5bb3\u306a\u3069\u304c\u5f37\u304f\u3001\u65e5\u5e38\u751f\u6d3b\u3084\u5b66\u7fd2\u306b\u652f\u969c\u304c\u51fa\u308b\u5834\u5408\u306f\u3001\u533b\u5e2b\u306e\u5224\u65ad\u306b\u3088\u308a\u9069\u5207\u306a\u85ac\u5264\u306e\u4f7f\u7528\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<em>DRD3<\/em>\u907a\u4f1d\u5b50\u6b20\u5931\u306e\u5f71\u97ff\u3092\u8003\u616e\u3057\u3001\u614e\u91cd\u306b\u85ac\u5264\u9078\u629e\u304c\u884c\u308f\u308c\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>\u751f\u6b96\u5668\u306e\u7ba1\u7406\uff08\u7537\u5150\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u505c\u7559\u7cbe\u5de3\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u9069\u5207\u306a\u6642\u671f\u306b\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5074\u5f2f\u75c7\u306e\u6709\u7121\u3092\u5b9a\u671f\u7684\u306b\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u30fb\u8033\u9f3b\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8996\u529b\u3084\u8074\u529b\u306e\u691c\u67fb\u3092\u5b9a\u671f\u7684\u306b\u884c\u3044\u3001\u5b66\u7fd2\u306e\u59a8\u3052\u306b\u306a\u3089\u306a\u3044\u3088\u3046\u306b\u30b1\u30a2\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4f53\u91cd\u7ba1\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u904e\u6210\u9577\u3084\u80a5\u6e80\u50be\u5411\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u306f\u3001\u98df\u4e8b\u5185\u5bb9\u3084\u904b\u52d5\u7fd2\u6163\u306e\u6307\u5c0e\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>\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308a\u3001\u60c5\u5831\u306e\u5c11\u306a\u3055\u304b\u3089\u3054\u5bb6\u65cf\u306f\u4e0d\u5b89\u3092\u611f\u3058\u3084\u3059\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8a3a\u65ad\u306e\u610f\u5473\u3001\u5c06\u6765\u306e\u898b\u901a\u3057\u3001\u6b21\u5b50\u3078\u306e\u5f71\u97ff\u306a\u3069\u306b\u3064\u3044\u3066\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u304b\u3089\u6b63\u78ba\u306a\u60c5\u5831\u3092\u5f97\u308b\u3053\u3068\u304c\u3001\u5bb6\u65cf\u306e\u7cbe\u795e\u7684\u306a\u5b89\u5b9a\u306b\u3064\u306a\u304c\u308a\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>3q13.31 deletion syndrome\u306f\u30013\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5fae\u7d30\u306b\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u304a\u5b50\u3055\u3093\u306f\u3001\u8d64\u3061\u3083\u3093\u306e\u9803\u306f\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u6210\u9577\u306e\u30da\u30fc\u30b9\u306f\u3086\u3063\u304f\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u9854\u7acb\u3061\u306b\u306f\u3001\u300c\u9f3b\u306e\u4e0b\u304c\u5c11\u3057\u77ed\u304f\u3001\u5507\u304c\u3075\u3063\u304f\u3089\u3057\u3066\u3044\u308b\u300d\u3068\u3044\u3063\u305f\u611b\u3089\u3057\u3044\u7279\u5fb4\u304c\u3042\u308a\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u500b\u6027\u304c\u306f\u3063\u304d\u308a\u3057\u3066\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u4e00\u756a\u306e\u5fc3\u914d\u4e8b\u306f\u3001\u300c\u8a00\u8449\u304c\u306a\u304b\u306a\u304b\u51fa\u306a\u3044\u3053\u3068\u300d\u3084\u300c\u3058\u3063\u3068\u3057\u3066\u3044\u308b\u306e\u304c\u82e6\u624b\uff08\u591a\u52d5\uff09\u300d\u306a\u3053\u3068\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u3067\u306f\u3001\u8a00\u8449\u3092\u300c\u8a71\u3059\u300d\u3053\u3068\u304c\u7279\u306b\u82e6\u624b\u306a\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5fc3\u306e\u4e2d\u3067\u306f\u305f\u304f\u3055\u3093\u306e\u3053\u3068\u3092\u611f\u3058\u3001\u7406\u89e3\u3057\u3066\u3044\u307e\u3059\u3002\u7d75\u30ab\u30fc\u30c9\u3084\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u3092\u4f7f\u3048\u3070\u3001\u6c17\u6301\u3061\u3092\u4f1d\u3048\u5408\u3046\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u6d3b\u767a\u3059\u304e\u3066\u76ee\u304c\u96e2\u305b\u306a\u3044\u884c\u52d5\u3082\u3001\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u306b\u3088\u308b\u8133\u306e\u7279\u6027\u3067\u3059\u3002\u3057\u3064\u3051\u306e\u554f\u984c\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u74b0\u5883\u3092\u6574\u3048\u305f\u308a\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u304a\u85ac\u306e\u52a9\u3051\u3092\u501f\u308a\u305f\u308a\u3059\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u3082\u3054\u5bb6\u65cf\u3082\u843d\u3061\u7740\u3044\u3066\u904e\u3054\u305b\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u30012010\u5e74\u4ee3\u306b\u306a\u3063\u3066\u304b\u3089\u8a73\u3057\u304f\u5206\u304b\u3063\u3066\u304d\u305f\u65b0\u3057\u3044\u75c5\u6c17\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u4e0a\u306e\u60c5\u5831\u306f\u5c11\u306a\u3044\u3067\u3059\u304c\u3001\u4e16\u754c\u4e2d\u306b\u540c\u3058\u8a3a\u65ad\u306e\u4ef2\u9593\u304c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u7be4\u306a\u5185\u81d3\u306e\u75c5\u6c17\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u306f\u5c11\u306a\u3044\u305f\u3081\u3001\u9069\u5207\u306a\u7642\u80b2\u3068\u30b5\u30dd\u30fc\u30c8\u304c\u3042\u308c\u3070\u3001\u305d\u306e\u5b50\u3089\u3057\u304f\u5143\u6c17\u306b\u6210\u9577\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u5e2b\u3001\u30bb\u30e9\u30d4\u30b9\u30c8\u3001\u5b66\u6821\u306e\u5148\u751f\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u8c4a\u304b\u306a\u53ef\u80fd\u6027\u3092\u4fe1\u3058\u3066\u3001\u4e00\u6b69\u305a\u3064\u6b69\u3093\u3067\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>Molin, A.M., et al.<\/strong> (2011). <em>A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.<\/em> Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b3q13.31\u6b20\u5931\u75c7\u5019\u7fa4\u3092\u521d\u3081\u3066\u72ec\u7acb\u3057\u305f\u75be\u60a3\u5358\u4f4d\u3068\u3057\u3066\u63d0\u5531\u3057\u305f\u8a18\u5ff5\u7891\u7684\u306a\u8ad6\u6587\u3002ZBTB20\u3084DRD3\u306e\u91cd\u8981\u6027\u3092\u6307\u6458\u3057\u3001\u904e\u6210\u9577\u3084\u9854\u8c8c\u306e\u7279\u5fb4\u3092\u5b9a\u7fa9\u3057\u305f\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Shuvarikov, A., et al.<\/strong> (2013). <em>Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u6b20\u5931\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3068\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u8a00\u8a9e\u9045\u6ede\u3068\u3044\u3063\u305f\u81e8\u5e8a\u75c7\u72b6\u306e\u76f8\u95a2\u3092\u8a73\u7d30\u306b\u89e3\u6790\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Kashevarova, A.A., et al.<\/strong> (2014). <em>Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-qter and mosaic microdeletion 3q13.31-q13.32.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u75c7\u4f8b\u5831\u544a\u306e\u4e2d\u3067\u30013q13.31\u6b20\u5931\u9818\u57df\u306e\u907a\u4f1d\u5b50\uff08ZBTB20, LSAMP, GAP43\uff09\u306e\u6a5f\u80fd\u306b\u3064\u3044\u3066\u8a73\u7d30\u306a\u8003\u5bdf\u3092\u884c\u3063\u3066\u3044\u308b\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Vulto-van Silfhout, A.T., et al.<\/strong> (2013). <em>Detailed delineation of the specific 3q13.31 microdeletion syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u8907\u6570\u306e\u60a3\u8005\u30c7\u30fc\u30bf\u3092\u96c6\u7a4d\u3057\u3001\u884c\u52d5\u7279\u6027\uff08ADHD\u3001\u81ea\u9589\u75c7\uff09\u3084\u7cbe\u795e\u533b\u5b66\u7684\u306a\u5074\u9762\u306b\u7126\u70b9\u3092\u5f53\u3066\u3066\u81e8\u5e8a\u50cf\u3092\u6d17\u7df4\u3055\u305b\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>3q13 deletions<\/em> (2018).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u767a\u9054\u306e\u7d4c\u904e\u3001\u884c\u52d5\u9762\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>ClinGen Dosage Sensitivity Curation<\/strong>: <em>ZBTB20<\/em>, <em>DRD3<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5404\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff08\u6b20\u5931\uff09\u304c\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3084\u884c\u52d5\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u306e\u79d1\u5b66\u7684\u6839\u62e0\u8a55\u4fa1\u3002)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-17044","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\/17044","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\/17044\/revisions"}],"predecessor-version":[{"id":17046,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17044\/revisions\/17046"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17044"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}