{"id":16975,"date":"2026-01-21T03:19:06","date_gmt":"2026-01-21T03:19:06","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16975"},"modified":"2026-01-21T03:19:06","modified_gmt":"2026-01-21T03:19:06","slug":"2q11-2-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/2q11-2-deletion-syndrome\/","title":{"rendered":"2q11.2 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>2q11.2\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>2q11.2\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff082q11.2 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>2q11.2\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 2q11.2\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1aAFF3\u95a2\u9023\u767a\u9054\u969c\u5bb3<\/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>2\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0911.2\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e2\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u4ed8\u3051\u6839\uff08\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\uff09\u306b\u8fd1\u3044\u300c11.2\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\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u3011<\/p>\n\n\n\n<p>2\u756a\u67d3\u8272\u4f53\u306f\u30d2\u30c8\u30672\u756a\u76ee\u306b\u5927\u304d\u306a\u67d3\u8272\u4f53\u3067\u3059\u304c\u3001\u3053\u306e\u300c2q11.2\u300d\u9818\u57df\u306e\u6b20\u5931\u306f\u975e\u5e38\u306b\u7a00\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6b20\u5931\u306e\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>\u3053\u306e\u9818\u57df\u306b\u306f\u3044\u304f\u3064\u304b\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\uff08\u7279\u306b\u6210\u9577\u969c\u5bb3\u3084\u77e5\u7684\u969c\u5bb3\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059**\u300c\u8cac\u4efb\u907a\u4f1d\u5b50\uff08Causative Gene\uff09\u300d**\u3068\u3057\u3066\u3001\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u304c\u7279\u306b\u6ce8\u76ee\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>AFF3 (AF4\/FMR2 Family Member 3) \/ \u65e7\u540d LAF4:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u91cd\u8981\u306e\u8cac\u4efb\u907a\u4f1d\u5b50<\/strong>\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8ee2\u5199\u56e0\u5b50\uff08\u4ed6\u306e\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u8abf\u7bc0\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\uff09\u306e\u4e00\u7a2e\u3067\u3042\u308a\u3001\u80ce\u5150\u671f\u306e<strong>\u8133\u306e\u767a\u9054<\/strong>\u3084<strong>\u9aa8\u683c\u5f62\u6210<\/strong>\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u4e2d\u80da\u8449\u3084\u795e\u7d4c\u5916\u80da\u8449\u3068\u547c\u3070\u308c\u308b\u7d44\u7e54\u306e\u5206\u5316\u306b\u95a2\u308f\u3063\u3066\u304a\u308a\u3001\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u300c\u4f4e\u8eab\u9577\u300d\u3084\u300c\u77e5\u7684\u969c\u5bb3\u300d\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u307e\u305f\u3001<em>AFF3<\/em>\u907a\u4f1d\u5b50\u306f\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u3068\u306e\u95a2\u9023\u3082\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>FHL2 (Four And A Half LIM Domains 2):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u8089\u3084\u5fc3\u81d3\u3001\u9aa8\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6210\u9577\u969c\u5bb3\u3084\u9aa8\u683c\u7570\u5e38\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\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>\u6975\u3081\u3066\u7a00\uff08Ultra-rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u306b\u304a\u3051\u308b\u8a73\u7d30\u306a\u75c7\u4f8b\u5831\u544a\u6570\u306f\u3001\u73fe\u6642\u70b9\u3067\u6570\u5341\u4f8b\u7a0b\u5ea6\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002Orphanet\u306a\u3069\u306e\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3067\u306f\u3001100\u4e07\u4eba\u306b1\u4eba\u672a\u6e80\uff08&lt;1 \/ 1,000,000\uff09\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u300c\u75be\u60a3\u304c\u5b58\u5728\u3057\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\u304c\u975e\u7279\u7570\u7684:<\/strong> \u91cd\u7be4\u306a\u8eab\u4f53\u5947\u5f62\u3092\u4f34\u308f\u306a\u3044\u5834\u5408\u3001\u5358\u306a\u308b\u300c\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u300d\u3084\u300c\u4f4e\u8eab\u9577\u300d\u3068\u3057\u3066\u6271\u308f\u308c\u3001\u67d3\u8272\u4f53\u691c\u67fb\u307e\u3067\u81f3\u3089\u306a\u3044\u3053\u3068\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>2q11.2 deletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u51fa\u751f\u524d\u304b\u3089\u306e\u6210\u9577\u969c\u5bb3\uff08\u4f4e\u8eab\u9577\uff09\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d**\u304c3\u5927\u5fb4\u5019\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u7be4\u306a\u5185\u81d3\u5947\u5f62\u306e\u5408\u4f75\u306f\u6bd4\u8f03\u7684\u5c11\u306a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u767a\u9054\u3084\u6210\u9577\u306b\u95a2\u3059\u308b\u60a9\u307f\u3092\u6301\u3064\u3054\u5bb6\u65cf\u304c\u591a\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6210\u9577\u969c\u5bb3\u30fb\u9aa8\u683c\u7570\u5e38<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e\u6700\u3082\u76ee\u7acb\u3064\u7279\u5fb4\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b50\u5bae\u5185\u767a\u80b2\u9045\u5ef6\uff08IUGR\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u598a\u5a20\u4e2d\u304b\u3089\u80ce\u5150\u306e\u63a8\u5b9a\u4f53\u91cd\u304c\u5c0f\u3055\u304f\u3001\u5728\u80ce\u9031\u6570\u306b\u6bd4\u3079\u3066\u5c0f\u3055\u304f\u751f\u307e\u308c\u308b\uff08SGA\u5150\uff09\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4f4e\u8eab\u9577\uff08Short stature\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u5f8c\u3082\u8eab\u9577\u30fb\u4f53\u91cd\u306e\u4f38\u3073\u304c\u7de9\u3084\u304b\u3067\u3001\u6210\u9577\u66f2\u7dda\u306e\u4e0b\u9650\u3092\u4e0b\u56de\u308b\u4f4e\u8eab\u9577\uff08-2SD\u4ee5\u4e0b\uff09\u3068\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u306e\u5206\u6ccc\u81ea\u4f53\u306f\u6b63\u5e38\u306a\u5834\u5408\u304c\u591a\u304f\u3001\u9aa8\u306e\u611f\u53d7\u6027\u3084\u907a\u4f1d\u5b50\uff08AFF3\u306a\u3069\uff09\u306e\u5f71\u97ff\u306b\u3088\u308b\u300c\u4f53\u8cea\u7684\u306a\u4f4e\u8eab\u9577\u300d\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9aa8\u683c\u306e\u7279\u5fb4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u8db3\u304c\u5c0f\u3055\u3044\uff08Small hands and feet\uff09\u3002<\/li>\n\n\n\n<li>\u7b2c5\u6307\u306e\u77ed\u7e2e\u3084\u6e7e\u66f2\uff08\u5185\u6e7e\u6307\uff09\u3002<\/li>\n\n\n\n<li>\u810a\u67f1\u5074\u5f2f\u75c7\u3084\u95a2\u7bc0\u306e\u67d4\u8edf\u6027\uff08\u4f53\u304c\u67d4\u3089\u304b\u3044\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\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>\u307b\u307c\u5168\u4f8b\u3067\u3001\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\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>\u767a\u9054\u9045\u6ede\uff08DD\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u8a00\u8a9e\u767a\u9054\u9045\u6ede:<\/strong> \u8a00\u8449\u306e\u7406\u89e3\u3084\u8868\u51fa\u304c\u9045\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\u9045\u6ede:<\/strong> \u9996\u3059\u308f\u308a\u3084\u304a\u5ea7\u308a\u3001\u6b69\u884c\u958b\u59cb\u304c\u3086\u3063\u304f\u308a\u3067\u3059\u3002\u6b69\u884c\u958b\u59cb\u306f1\u6b73\u534a\u301c2\u6b73\u4ee5\u964d\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/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\u3002<\/li>\n\n\n\n<li>\u3057\u304b\u3057\u3001\u91cd\u5ea6\u306e\u969c\u5bb3\u3068\u306a\u308b\u3053\u3068\u306f\u6bd4\u8f03\u7684\u5c11\u306a\u304f\u3001\u6642\u9593\u3092\u304b\u3051\u3066\u5b66\u7fd2\u3057\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u3092\u7372\u5f97\u3067\u304d\u308b\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u306e\u3088\u3046\u306a\u843d\u3061\u7740\u304d\u306e\u306a\u3055\u3084\u3001\u4e0d\u5b89\u306e\u5f37\u3055\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e00\u90e8\u3067\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u306e\u5408\u4f75\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u300c\u975e\u5e38\u306b\u7279\u5fb4\u7684\u300d\u3068\u3044\u3046\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u60a3\u8005\u3055\u3093\u540c\u58eb\u3067\u4f3c\u305f\u96f0\u56f2\u6c17\uff08Gestalt\uff09\u3092\u6301\u3064\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u76ee:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u9577\u3044\u307e\u3064\u6bdb\uff08Long eyelashes\uff09<\/strong>\uff1a\u5370\u8c61\u7684\u306a\u9577\u3044\u307e\u3064\u6bdb\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6fc3\u3044\u7709\u6bdb<\/strong>\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>\u9f3b\u30fb\u53e3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9f3b\u6881\u304c\u9ad8\u3044\u3001\u3042\u308b\u3044\u306f\u7a81\u51fa\u3057\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li>\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\uff09\u304c\u77ed\u3044\u3002<\/li>\n\n\n\n<li>\u8584\u3044\u4e0a\u5507\u3002<\/li>\n\n\n\n<li><strong>\u9ad8\u53e3\u84cb\uff08High-arched palate\uff09<\/strong>\uff1a\u53e3\u306e\u4e2d\u306e\u5929\u4e95\u304c\u9ad8\u304f\u72ed\u3044\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u524d\u982d\u90e8\u7a81\u51fa\uff08\u304a\u3067\u3053\u304c\u5e83\u3044\u30fb\u51fa\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li>\u8033\u4ecb\u306e\u5909\u5f62\u3084\u4f4e\u4f4d\u4ed8\u7740\u8033\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<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1:<\/strong> \u659c\u8996\u3001\u5c48\u6298\u7570\u5e38\uff08\u9060\u8996\u30fb\u8fd1\u8996\uff09\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1:<\/strong> \u6b6f\u4e26\u3073\u306e\u60aa\u3055\uff08\u53e2\u751f\uff09\u3084\u3001\u6b6f\u306e\u6b20\u640d\u3002<\/li>\n\n\n\n<li><strong>\u53e3\u84cb:<\/strong> \u7c98\u819c\u4e0b\u53e3\u84cb\u88c2\u3084\u53e3\u84cb\u5782\u88c2\uff08\u306e\u3069\u3061\u3093\u3053\u306e\u5272\u308c\uff09\u304c\u7a00\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3\u30fb\u814e\u75be\u60a3:<\/strong> \u983b\u5ea6\u306f\u4f4e\u3044\u3067\u3059\u304c\u3001\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069\u306e\u8efd\u5fae\u306a\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>2\u756a\u67d3\u8272\u4f53\u9577\u8155\uff082q11.2\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. AFF3\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong><\/p>\n\n\n\n<p>\u73fe\u5728\u306e\u7814\u7a76\u3067\u306f\u3001<strong>AFF3\u907a\u4f1d\u5b50<\/strong>\u304c\u7247\u65b9\u5931\u308f\u308c\u308b\u3053\u3068\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u304c\u3001\u75c7\u72b6\u306e\u4e3b\u8981\u306a\u539f\u56e0\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><em>AFF3<\/em>\u306f\u3001\u9aa8\u3084\u8133\u304c\u4f5c\u3089\u308c\u308b\u6642\u671f\u306b\u3001\u300c\u3069\u306e\u7d30\u80de\u304c\u9aa8\u306b\u306a\u308a\u3001\u3069\u306e\u7d30\u80de\u304c\u795e\u7d4c\u306b\u306a\u308b\u304b\u300d\u3068\u3044\u3046\u904b\u547d\u6c7a\u5b9a\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u304c\u4e0d\u8db3\u3059\u308b\u3053\u3068\u3067\u3001\u9aa8\u306e\u6210\u9577\u304c\u6291\u5236\u3055\u308c\u3066\u300c\u4f4e\u8eab\u9577\u300d\u306b\u306a\u3063\u305f\u308a\u3001\u8133\u306e\u795e\u7d4c\u56de\u8def\u306e\u5f62\u6210\u304c\u9045\u308c\u3066\u300c\u77e5\u7684\u969c\u5bb3\u300d\u306b\u306a\u3063\u305f\u308a\u3059\u308b\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\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:<\/strong>\n<ul class=\"wp-block-list\">\n<li>2q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306e<strong>\u591a\u304f<\/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\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u975e\u5e38\u306b\u4f4e\u3044\uff08\u4e00\u822c\u96c6\u56e3\u3068\u540c\u7a0b\u5ea6\uff09\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u907a\u4f1d\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u306f\u3001\u89aa\u304c\u540c\u3058\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u308b\uff08\u5bb6\u65cf\u6027\uff09\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8208\u5473\u6df1\u3044\u3053\u3068\u306b\u3001\u89aa\u306f\u300c\u5c0f\u67c4\u3067\u3042\u308b\u300d\u300c\u52c9\u5f37\u304c\u5c11\u3057\u82e6\u624b\u3060\u3063\u305f\u300d\u7a0b\u5ea6\u306e\u8efd\u5fae\u306a\u75c7\u72b6\u3057\u304b\u306a\u304f\u3001\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08<strong>\u53ef\u5909\u8868\u73fe\u6027<\/strong>\uff09\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u5b50\u3078\u907a\u4f1d\u3059\u308b\u78ba\u7387\u306f50%\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\uff09\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u300c\u4f4e\u8eab\u9577\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u306e\u7d44\u307f\u5408\u308f\u305b\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u304c\u3001\u81e8\u5e8a\u75c7\u72b6\u3060\u3051\u3067\u8a3a\u65ad\u3059\u308b\u3053\u3068\u306f\u4e0d\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\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>2q11.2\u9818\u57df\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\u3068\u3001<em>AFF3<\/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>\u4e00\u822c\u7684\u306aG\u30d0\u30f3\u30c9\u691c\u67fb\u3067\u306f\u3001\u6b20\u5931\u304c\u5c0f\u3055\u3059\u304e\u3066\u300c\u6b63\u5e38\u300d\u3068\u5224\u5b9a\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\u89e3\u6790\uff08Parental Testing\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u304a\u5b50\u3055\u3093\u306b\u6b20\u5931\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\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>\u89aa\u304c\u540c\u3058\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u306f\u3001\u6b21\u5b50\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\u3060\u3051\u3067\u306a\u304f\u3001\u304a\u5b50\u3055\u3093\u306e\u5c06\u6765\u306e\u4e88\u5f8c\uff08\u89aa\u304c\u5143\u6c17\u306a\u3089\u5b50\u3082\u8efd\u75c7\u306e\u53ef\u80fd\u6027\u304c\u3042\u308b\u306a\u3069\uff09\u3092\u4e88\u6e2c\u3059\u308b\u4e0a\u3067\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\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u6210\u9577\u30fb\u767a\u9054\u3092\u652f\u3048\u308b\u305f\u3081\u306e\u5305\u62ec\u7684\u306a\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6210\u9577\u30fb\u6804\u990a\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8eab\u9577\u30fb\u4f53\u91cd\u3092\u5b9a\u671f\u7684\u306b\u8a08\u6e2c\u3057\u3001\u6210\u9577\u66f2\u7dda\u3092\u4f5c\u6210\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5185\u5206\u6ccc\u5b66\u7684\u8a55\u4fa1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8457\u3057\u3044\u4f4e\u8eab\u9577\u304c\u3042\u308b\u5834\u5408\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u306e\u5206\u6ccc\u8a66\u9a13\u306a\u3069\u3092\u884c\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u4e0d\u5168\u75c7\u306e\u57fa\u6e96\u3092\u6e80\u305f\u3059\u5834\u5408\u306f\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308b\u52b9\u679c\uff08\u6700\u7d42\u8eab\u9577\u306e\u6539\u5584\uff09\u306b\u3064\u3044\u3066\u306f\u3001\u307e\u3060\u5341\u5206\u306a\u30c7\u30fc\u30bf\u304c\u84c4\u7a4d\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u500b\u5225\u306b\u9069\u5fdc\u304c\u5224\u65ad\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6804\u990a\u6307\u5c0e:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u54fa\u4e73\u4e0d\u826f\u3084\u504f\u98df\u304c\u3042\u308b\u5834\u5408\u3001\u9069\u5207\u306a\u6804\u990a\u6442\u53d6\u306e\u305f\u3081\u306e\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u5f8c\u3001\u3067\u304d\u308b\u3060\u3051\u65e9\u671f\u304b\u3089\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u304c\u76ee\u7acb\u3064\u5834\u5408\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u3092\u9ad8\u3081\u308b\u305f\u3081\u306e\u8a13\u7df4\u3092\u884c\u3044\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\u306e\u7a0b\u5ea6\u306b\u5408\u308f\u305b\u3001\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u3084\u901a\u7d1a\u6307\u5c0e\u6559\u5ba4\u306a\u3069\u3001\u500b\u5225\u306b\u9069\u3057\u305f\u6559\u80b2\u74b0\u5883\u3092\u6574\u3048\u307e\u3059\u3002\u5b66\u7fd2\u306e\u30da\u30fc\u30b9\u306b\u5408\u308f\u305b\u305f\u6307\u5c0e\u304c\u3001\u81ea\u5df1\u80af\u5b9a\u611f\u3092\u80b2\u3080\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5065\u5eb7\u7ba1\u7406\u30fb\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b9a\u671f\u691c\u8a3a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u773c\u79d1\u691c\u8a3a\uff08\u659c\u8996\u30fb\u5c48\u6298\u7570\u5e38\uff09\u3001\u6b6f\u79d1\u691c\u8a3a\uff08\u6b6f\u4e26\u3073\u30fb\u866b\u6b6f\uff09\u3001\u6574\u5f62\u5916\u79d1\u691c\u8a3a\uff08\u5074\u5f2f\u75c7\uff09\u3092\u5b9a\u671f\u7684\u306b\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5fc3\u96d1\u97f3\u306a\u3069\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5faa\u74b0\u5668\u79d1\u3067\u306e\u7cbe\u67fb\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>\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u3054\u5bb6\u65cf\u306f\u60c5\u5831\u306e\u5c11\u306a\u3055\u306b\u4e0d\u5b89\u3092\u611f\u3058\u3084\u3059\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u304b\u3089\u3001\u75be\u60a3\u306e\u7279\u6027\u3001\u5bb6\u65cf\u5185\u767a\u75c7\u306e\u53ef\u80fd\u6027\u3001\u5c06\u6765\u306e\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u6b63\u78ba\u306a\u60c5\u5831\u3092\u5f97\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b\u89aa\u304c\u672a\u8a3a\u65ad\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u5bb6\u65cf\u5168\u4f53\u3067\u306e\u30b5\u30dd\u30fc\u30c8\u4f53\u5236\u3092\u691c\u8a0e\u3057\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>2q11.2 deletion syndrome\u306f\u30012\u756a\u67d3\u8272\u4f53\u306e\u3054\u304f\u4e00\u90e8\u304c\u6b20\u3051\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\u5927\u304d\u306a\u304a\u5b50\u3055\u3093\u306e\u7279\u5fb4\u3068\u3057\u3066\u3001\u300c\u4f53\u304c\u5c0f\u67c4\u3067\u3042\u308b\u3053\u3068\u300d\u3084\u300c\u8a00\u8449\u3084\u904b\u52d5\u306e\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u3053\u3068\u300d\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u751f\u307e\u308c\u305f\u6642\u304b\u3089\u4f53\u304c\u5c0f\u3055\u304f\u3001\u30df\u30eb\u30af\u3092\u98f2\u3080\u306e\u304c\u82e6\u624b\u3060\u3063\u305f\u308a\u3057\u3066\u3001\u3054\u5bb6\u65cf\u306f\u6210\u9577\u306b\u3064\u3044\u3066\u305a\u3063\u3068\u5fc3\u914d\u3055\u308c\u3066\u304d\u305f\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u9aa8\u3084\u8133\u306e\u767a\u9054\u306b\u95a2\u308f\u308bAFF3\u3068\u3044\u3046\u907a\u4f1d\u5b50\u304c\u4e0d\u8db3\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u52b9\u85ac\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3057\u3066\u3067\u304d\u308b\u3053\u3068\u306f\u305f\u304f\u3055\u3093\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4f4e\u8eab\u9577\u306b\u5bfe\u3057\u3066\u306f\u30db\u30eb\u30e2\u30f3\u306e\u5c02\u9580\u533b\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u6210\u9577\u3092\u898b\u5b88\u308a\u3001\u767a\u9054\u306e\u9045\u308c\u306b\u5bfe\u3057\u3066\u306f\u7642\u80b2\u3092\u901a\u3058\u3066\u300c\u3067\u304d\u308b\u3053\u3068\u300d\u3092\u5897\u3084\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306f\u3001\u3086\u3063\u304f\u308a\u306a\u304c\u3089\u3082\u8a00\u8449\u3092\u7372\u5f97\u3057\u3001\u5b66\u6821\u751f\u6d3b\u3092\u9001\u308a\u3001\u793e\u4f1a\u3068\u306e\u3064\u306a\u304c\u308a\u3092\u6301\u3063\u3066\u751f\u6d3b\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u5e0c\u5c11\u75be\u60a3\u300d\u3068\u3044\u3046\u8a00\u8449\u306b\u5b64\u72ec\u3092\u611f\u3058\u308b\u3053\u3068\u3082\u3042\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u533b\u5e2b\u3001\u30bb\u30e9\u30d4\u30b9\u30c8\u3001\u6559\u80b2\u8005\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u500b\u6027\u8c4a\u304b\u306a\u6210\u9577\u3092\u4e00\u7dd2\u306b\u652f\u3048\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Riley, B.M., et al.<\/strong> (2010). <em>A 3.1 Mb microdeletion of 2q11.2 associated with developmental delay and dysmorphic features.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b2q11.2\u6b20\u5931\u3092\u6301\u3064\u60a3\u8005\u306e\u8a73\u7d30\u306a\u81e8\u5e8a\u50cf\uff08\u767a\u9054\u9045\u6ede\u3001\u9854\u8c8c\u3001\u9aa8\u683c\u7570\u5e38\uff09\u3092\u5831\u544a\u3057\u3001AFF3(LAF4)\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u8868\u73fe\u578b\u306e\u4e3b\u306a\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u5506\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Mencarelli, M.A., et al.<\/strong> (2007). <em>2q11.2 deletion in a child with mental retardation and dysmorphic features.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u77e5\u7684\u969c\u5bb3\u3068\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3092\u6301\u3064\u5c0f\u5150\u306b\u304a\u3051\u308b2q11.2\u6b20\u5931\u306e\u75c7\u4f8b\u5831\u544a\u3002\u521d\u671f\u306e\u6587\u732e\u3068\u3057\u3066\u81e8\u5e8a\u7684\u7279\u5fb4\u3092\u5b9a\u7fa9\u3065\u3051\u305f\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Lildballe, D.L., et al.<\/strong> (2011). <em>Maternal transmission of a 2q11.2 deletion in a patient with a complex phenotype.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5bb6\u65cf\u6027\uff08\u6bcd\u304b\u3089\u5b50\u3078\uff09\u306e2q11.2\u6b20\u5931\u4e8b\u4f8b\u3092\u5831\u544a\u3002\u89aa\u304c\u8efd\u75c7\uff08\u53ef\u5909\u8868\u73fe\u6027\uff09\u3067\u3042\u308b\u3053\u3068\u3084\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u91cd\u8981\u6027\u306b\u3064\u3044\u3066\u8a00\u53ca\u3057\u3066\u3044\u308b\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Luo, S., et al.<\/strong> (2012). <em>Recurrent 2q11.2 deletion syndrome: Report of a new patient and review of the literature.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u65b0\u305f\u306a\u75c7\u4f8b\u5831\u544a\u306b\u52a0\u3048\u3001\u904e\u53bb\u306e\u6587\u732e\u3092\u30ec\u30d3\u30e5\u30fc\u3057\u3001\u4f4e\u8eab\u9577\u3001\u77ed\u3044\u6307\u3001\u767a\u9054\u9045\u6ede\u3068\u3044\u3063\u305f\u5171\u901a\u75c7\u72b6\uff08Core phenotype\uff09\u3092\u307e\u3068\u3081\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>2q11.2 microdeletions<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u75c7\u72b6\u3001\u6210\u9577\u306e\u7d4c\u904e\u3001\u751f\u6d3b\u4e0a\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002\u5e0c\u5c11\u75be\u60a3\u306e\u5bb6\u65cf\u306b\u3068\u3063\u3066\u8cb4\u91cd\u306a\u60c5\u5831\u6e90\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>AFF3<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203bAFF3\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff08\u6b20\u5931\uff09\u304c\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u306e\u79d1\u5b66\u7684\u6839\u62e0\u8a55\u4fa1\u3002\u767a\u80b2\u4e0d\u5168\u3084\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3068\u306e\u95a2\u9023\u304c\u652f\u6301\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> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-16975","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\/16975","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\/16975\/revisions"}],"predecessor-version":[{"id":16977,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16975\/revisions\/16977"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16975"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}