{"id":17018,"date":"2026-01-21T05:04:27","date_gmt":"2026-01-21T05:04:27","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17018"},"modified":"2026-01-21T05:04:27","modified_gmt":"2026-01-21T05:04:27","slug":"2q32-q33-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/2q32-q33-microdeletion-syndrome\/","title":{"rendered":"2q32-q33 microdeletion 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>2q32-q33\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>2q32-q33\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>2q33.1\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff082q33.1 microdeletion syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u6b20\u5931\u306e\u4e2d\u5fc3\u304cq33.1\u306b\u3042\u308b\u5834\u5408\u3001\u3088\u308a\u9650\u5b9a\u7684\u306b\u3053\u3046\u547c\u3070\u308c\u307e\u3059\u3002\u672c\u75c7\u5019\u7fa4\u306e\u4e2d\u6838\u3092\u306a\u3059\u75c5\u614b\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u30b0\u30e9\u30b9\u75c7\u5019\u7fa4\uff08Glass syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b1989\u5e74\u306bGlass\u535a\u58eb\u3089\u304c\u5831\u544a\u3057\u305f\u300c2q32.2-q33.1\u6b20\u5931\u300d\u3092\u6301\u3064\u75c7\u4f8b\u306b\u7531\u6765\u3057\u307e\u3059\u3002\u73fe\u5728\u306f\u3053\u306e\u540d\u79f0\u304c\u672c\u75c7\u5019\u7fa4\u306e\u6b74\u53f2\u7684\u306a\u5225\u540d\u3068\u3057\u3066\u4f7f\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>SATB2\u95a2\u9023\u75c7\u5019\u7fa4\uff08SATB2-associated syndrome; SAS\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u306a\u75c7\u72b6\uff08\u53e3\u84cb\u88c2\u3001\u767a\u9054\u9045\u6ede\u306a\u3069\uff09\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u304c<em>SATB2<\/em>\u3067\u3042\u308b\u3053\u3068\u304c\u5224\u660e\u3057\u305f\u305f\u3081\u3001\u73fe\u5728\u306f\u5305\u62ec\u7684\u306b\u3053\u3046\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>2q32\u30e2\u30ce\u30bd\u30df\u30fc \/ 2q33\u30e2\u30ce\u30bd\u30df\u30fc<\/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\uff0932\u304b\u308933\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\u306b\u3042\u308b\u300c32\u300d\u304b\u3089\u300c33\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\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306e\u6b20\u5931\u306f\u3001\u30b5\u30a4\u30ba\u304c\u6570\u767e\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u304b\u3089\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u4ee5\u4e0a\u306e\u5927\u304d\u306a\u3082\u306e\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6b20\u5931\u7bc4\u56f2\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u91cd\u3055\u306f\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u7279\u306b\u91cd\u8981\u8996\u3055\u308c\u308b\u306e\u306f2q33.1\u9818\u57df\u3067\u3059\u3002\u3053\u3053\u306b\u306f\u3001\u672c\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306e\u5927\u90e8\u5206\u3092\u8aac\u660e\u3067\u304d\u308b\u6c7a\u5b9a\u7684\u306a\u907a\u4f1d\u5b50\uff08SATB2\uff09\u304c\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u300c2q32-q33\u6b20\u5931\u300d\u3068\u3044\u3046\u5e83\u7bc4\u56f2\u306e\u6b20\u5931\u306e\u5834\u5408\u3001SATB2\u3060\u3051\u3067\u306a\u304f\u3001\u5468\u56f2\u306e\u4ed6\u306e\u907a\u4f1d\u5b50\u3082\u4e00\u7dd2\u306b\u5931\u308f\u308c\u308b\u305f\u3081\u3001\u76ae\u819a\u3084\u9aea\u306e\u6bdb\u306e\u7570\u5e38\u306a\u3069\u3001\u5358\u4e00\u306e\u907a\u4f1d\u5b50\u5909\u7570\u3067\u306f\u8aac\u660e\u3057\u304d\u308c\u306a\u3044\u8907\u5408\u7684\u306a\u75c7\u72b6\uff08\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff09\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u3042\u308a\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>SATB2 (Special AT-rich sequence-binding protein 2):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u91cd\u8981\u306e\u8cac\u4efb\u907a\u4f1d\u5b50<\/strong>\u3067\u3059\uff082q33.1\u306b\u4f4d\u7f6e\uff09\u3002<\/li>\n\n\n\n<li>\u8133\u306e\u5927\u8133\u76ae\u8cea\u306e\u5f62\u6210\u3001\u5de6\u53f3\u306e\u8133\u3092\u3064\u306a\u3050\u300c\u8133\u6881\u300d\u306e\u767a\u9054\u3001\u305d\u3057\u3066\u984e\u3084\u53e3\u84cb\uff08\u53e3\u306e\u5929\u4e95\uff09\u306e\u5f62\u6210\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u30de\u30b9\u30bf\u30fc\u5236\u5fa1\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306f\u3001**\u300c\u91cd\u5ea6\u306e\u8a00\u8a9e\u969c\u5bb3\u300d\u300c\u53e3\u84cb\u88c2\u300d\u300c\u6b6f\u306e\u7570\u5e38\u300d\u300c\u9aa8\u7c97\u9b06\u75c7\u300d**\u306e\u76f4\u63a5\u7684\u306a\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GLI2 (GLI Family Zinc Finger 2):<\/strong>\n<ul class=\"wp-block-list\">\n<li>2q24-q32\u4ed8\u8fd1\u306b\u4f4d\u7f6e\u3059\u308b\u907a\u4f1d\u5b50\u3067\u3001\u6b20\u5931\u7bc4\u56f2\u304c\u8fd1\u4f4d\uff08\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\u5074\uff09\u306b\u5e83\u304c\u3063\u3066\u3044\u308b\u5834\u5408\u306b\u95a2\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u8133\u306e\u6b63\u4e2d\u69cb\u9020\u306e\u5f62\u6210\u306b\u95a2\u308f\u308a\u3001\u5168\u524d\u8133\u80de\u75c7\u69d8\u306e\u7279\u5fb4\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>LANCL2 \/ B3GALT1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>2q33\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u3067\u3001\u514d\u75ab\u7cfb\u3084\u4ee3\u8b1d\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u81e8\u5e8a\u75c7\u72b6\u3078\u306e\u5177\u4f53\u7684\u306a\u5bc4\u4e0e\u306f\u7814\u7a76\u6bb5\u968e\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>\u7a00\uff08Rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>1989\u5e74\u306e\u6700\u521d\u306e\u5831\u544a\u4ee5\u6765\u3001\u4e16\u754c\u3067\u767e\u4f8b\u4ee5\u4e0a\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\u306e\u4e00\u3064\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u53e3\u84cb\u88c2\u3084\u767a\u9054\u9045\u6ede\u3092\u6301\u3064\u60a3\u8005\u3055\u3093\u306b\u5bfe\u3057\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u304c\u884c\u308f\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u3053\u3068\u3067\u3001\u767a\u898b\u6570\u306f\u5897\u52a0\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7537\u5973\u5dee\u306f\u306a\u304f\u3001\u4eba\u7a2e\u306b\u3088\u308b\u504f\u308a\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u305b\u3093\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>2q32-q33 microdeletion syndrome\u306e\u75c7\u72b6\u306f\u3001\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3068\u6b6f\u300d\u300c\u53e3\u84cb\u88c2\u300d\u300c\u91cd\u5ea6\u306e\u8a00\u8a9e\u767a\u9054\u9045\u6ede\u300d\u300c\u884c\u52d5\u7279\u6027\u300d\u3001\u305d\u3057\u3066**\u300c\u5916\u80da\u8449\u75c7\u72b6\uff08\u8584\u3044\u76ae\u819a\u306a\u3069\uff09\u300d**\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001**\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\uff08\u5c0f\u984e\uff0b\u820c\u6839\u6c88\u4e0b\uff0b\u53e3\u84cb\u88c2\uff09**\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u306e\u304c\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u53e3\u8154\u30fb\u9854\u8c8c\u306e\u7279\u5fb4\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e\u6700\u5927\u306e\u7279\u5fb4\u3067\u3042\u308a\u3001\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u6240\u898b\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53e3\u84cb\u88c2\uff08Cleft palate\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u60a3\u8005\u3055\u3093\u306e\u7d04\u534a\u6570\u4ee5\u4e0a\u306b\u53e3\u84cb\u88c2\uff08\u53e3\u306e\u4e2d\u306e\u5929\u4e95\u304c\u5272\u308c\u3066\u3044\u308b\uff09\u3001\u3042\u308b\u3044\u306f\u9ad8\u53e3\u84cb\uff08\u5929\u4e95\u304c\u9ad8\u3044\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\uff08Pierre Robin sequence\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u300c\u3042\u3054\u304c\u6975\u7aef\u306b\u5c0f\u3055\u3044\uff08\u5c0f\u984e\u75c7\uff09\u300d\u2192\u300c\u820c\u304c\u5965\u306b\u843d\u3061\u8fbc\u3080\uff08\u820c\u6839\u6c88\u4e0b\uff09\u300d\u2192\u300c\u53e3\u84cb\u304c\u9589\u3058\u306a\u3044\uff08\u53e3\u84cb\u88c2\uff09\u300d\u3068\u3044\u3046\u4e00\u9023\u306e\u5f62\u614b\u7570\u5e38\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u65b0\u751f\u5150\u671f\u306e\u547c\u5438\u56f0\u96e3\u3084\u54fa\u4e73\u969c\u5bb3\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7279\u5fb4\u7684\u306a\u6b6f\uff08Dental anomalies\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5de8\u5927\u6b6f\uff08Macrodontia\uff09\uff1a<\/strong> \u4e0a\u306e\u771f\u3093\u4e2d\u306e\u524d\u6b6f\uff08\u4e0a\u984e\u4e2d\u5207\u6b6f\uff09\u304c\u3001\u7570\u5e38\u306b\u5e45\u5e83\u304f\u5927\u304d\u3044\u3053\u3068\u304c\u975e\u5e38\u306b\u7279\u5fb4\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b6f\u306e\u6b20\u640d\u3084\u3001\u30a8\u30ca\u30e1\u30eb\u8cea\u5f62\u6210\u4e0d\u5168\u3001\u6b6f\u4e26\u3073\u306e\u4e71\u308c\uff08\u53e2\u751f\uff09\u3082\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9854\u8c8c\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9854\u306e\u975e\u5bfe\u79f0\u6027\u3001\u8584\u3044\u4e0a\u5507\u3001\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\uff09\u304c\u5e73\u5766\u3001\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u524d\u982d\u90e8\u7a81\u51fa\u306a\u3069\u3002<\/li>\n\n\n\n<li>\u3057\u304b\u3057\u3001\u9854\u3064\u304d\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u3001\u611b\u5b0c\u306e\u3042\u308b\u8868\u60c5\uff08\u30cb\u30b3\u30cb\u30b3\u3057\u3066\u3044\u308b\uff09\u3092\u898b\u305b\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5916\u80da\u8449\u75c7\u72b6\uff08\u76ae\u819a\u30fb\u6bdb\u9aea\uff09<\/strong><\/p>\n\n\n\n<p>2q32-q33\u9818\u57df\u306e\u6b20\u5931\u306b\u7279\u7570\u7684\u306a\u6240\u898b\u3068\u3057\u3066\u3001\u76ae\u819a\u3084\u9aea\u306e\u6bdb\u306e\u7570\u5e38\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8584\u3044\u76ae\u819a\uff1a<\/strong> \u76ae\u819a\u304c\u8584\u304f\u3001\u8840\u7ba1\u304c\u900f\u3051\u3066\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6bdb\u9aea\u306e\u7570\u5e38\uff1a<\/strong> \u9aea\u306e\u6bdb\u304c\u7d30\u304f\u3001\u5c11\u306a\u3044\uff08\u758e\u6bdb\uff09\u3002\u6210\u9577\u304c\u9045\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u722a\u306e\u7570\u5e38\uff1a<\/strong> \u722a\u304c\u8584\u3044\u3001\u3042\u308b\u3044\u306f\u5909\u5f62\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u3089\u306f\u300c\u5916\u80da\u8449\u5f62\u6210\u4e0d\u5168\u300d\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u9818\u57df\u306b\u542b\u307e\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u3092\u793a\u5506\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u91cd\u5ea6\u306e\u8a00\u8a9e\u767a\u9054\u9045\u6ede\uff08Severe speech delay\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u3082\u3054\u5bb6\u65cf\u304c\u60a9\u307e\u308c\u308b\u75c7\u72b6<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u304c\u51fa\u59cb\u3081\u308b\u306e\u304c\u975e\u5e38\u306b\u9045\u304f\u3001\u6570\u8a9e\u3057\u304b\u8a71\u305b\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u5168\u304f\u767a\u8a9e\u304c\u306a\u3044\uff08Non-verbal\uff09\u30b1\u30fc\u30b9\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u300c\u7406\u89e3\u300d\uff1e\u300c\u8868\u51fa\u300d\uff1a<\/strong> \u8a00\u8449\u3092\u8a71\u3059\u3053\u3068\u306f\u82e6\u624b\u3067\u3082\u3001\u3053\u3061\u3089\u306e\u8a00\u3063\u3066\u3044\u308b\u3053\u3068\u306f\u3088\u304f\u7406\u89e3\u3057\u3066\u3044\u308b\u5834\u5408\u304c\u591a\u3044\u3067\u3059\u3002\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u3084\u8868\u60c5\u3067\u610f\u601d\u758e\u901a\u3092\u56f3\u308d\u3046\u3068\u3057\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>\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b69\u884c\u958b\u59cb\u306f2\u301c3\u6b73\u9803\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u6b69\u304d\u65b9\u304c\u4e0d\u5b89\u5b9a\uff08\u5931\u8abf\u6027\u6b69\u884c\uff09\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7279\u6027\uff08Behavioral phenotype\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u967d\u6c17\u306a\u6027\u683c\uff08Happy demeanor\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4eba\u61d0\u3063\u3053\u304f\u3001\u3088\u304f\u7b11\u3044\u3001\u793e\u4ea4\u7684\u3067\u3059\u3002\u3053\u306e\u7279\u5fb4\u304b\u3089\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u3068\u9593\u9055\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3066\u3093\u304b\u3093\u306e\u983b\u5ea6\u306a\u3069\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u591a\u52d5\u30fb\u885d\u52d5\u6027\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3058\u3063\u3068\u3057\u3066\u3044\u308b\u306e\u304c\u82e6\u624b\u3067\u3001\u6b21\u3005\u3068\u8208\u5473\u304c\u79fb\u308a\u5909\u308f\u308bADHD\u69d8\u306e\u884c\u52d5\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u304b\u3093\u3057\u3083\u304f\u30fb\u653b\u6483\u6027\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f1d\u3048\u305f\u3044\u3053\u3068\u304c\u4f1d\u308f\u3089\u306a\u3044\u30d5\u30e9\u30b9\u30c8\u30ec\u30fc\u30b7\u30e7\u30f3\u304b\u3089\u3001\u53e9\u304f\u3001\u7269\u3092\u6295\u3052\u308b\u3068\u3044\u3063\u305f\u884c\u52d5\u306b\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9ad8\u3044\u75db\u899a\u95be\u5024\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u75db\u307f\u306b\u920d\u611f\u3067\u3001\u8ee2\u3093\u3060\u308a\u3076\u3064\u3051\u305f\u308a\u3057\u3066\u3082\u6ce3\u304b\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7761\u7720\u969c\u5bb3\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5165\u7720\u56f0\u96e3\u3084\u591c\u9593\u306e\u899a\u9192\u306a\u3069\u3001\u7761\u7720\u30ea\u30ba\u30e0\u304c\u6574\u3044\u306b\u304f\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u9aa8\u683c\u30fb\u6210\u9577<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u969c\u5bb3\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u524d\u306e\u80ce\u5150\u767a\u80b2\u4e0d\u5168\uff08IUGR\uff09\u3084\u3001\u51fa\u751f\u5f8c\u306e\u4f4e\u8eab\u9577\u30fb\u4f4e\u4f53\u91cd\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6442\u98df\u969c\u5bb3\uff08\u54fa\u4e73\u56f0\u96e3\uff09\u304c\u5f71\u97ff\u3057\u3066\u3044\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9aa8\u5bc6\u5ea6\u306e\u4f4e\u4e0b\uff08Osteopenia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>SATB2<\/em>\u907a\u4f1d\u5b50\u306f\u9aa8\u306e\u5f62\u6210\u306b\u3082\u95a2\u308f\u308b\u305f\u3081\u3001\u82e5\u5e74\u671f\u304b\u3089\u9aa8\u5bc6\u5ea6\u304c\u4f4e\u304f\u3001\u9aa8\u6298\u3057\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u9aa8\u683c\u7570\u5e38\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30af\u30e2\u72b6\u6307\uff08\u6307\u304c\u9577\u3044\uff09\u3001\u5f2f\u6307\uff08\u6307\u304c\u66f2\u304c\u3063\u3066\u3044\u308b\uff09\u3001\u5074\u5f2f\u75c7\u3001\u95a2\u7bc0\u306e\u904e\u4f38\u5c55\uff08\u4f53\u304c\u67d4\u3089\u304b\u3044\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>2\u756a\u67d3\u8272\u4f53\u9577\u8155\uff082q32-q33\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>\u3053\u306e\u75be\u60a3\u306e\u672c\u8cea\u306f\u3001\u67d3\u8272\u4f53\u304c1\u672c\u3057\u304b\u306a\u3044\uff08\u6b20\u5931\u3057\u3066\u3044\u308b\uff09\u90e8\u5206\u306e\u907a\u4f1d\u5b50\u304c\u3001\u901a\u5e38\u306e\u534a\u5206\u306e\u91cf\u3057\u304b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308c\u306a\u3044\u3053\u3068\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>SATB2\u306e\u4e0d\u8db3:<\/strong> \u8133\u306e\u914d\u7dda\u3084\u3001\u984e\u30fb\u53e3\u84cb\u306e\u5f62\u6210\u306b\u5fc5\u8981\u306a<em>SATB2<\/em>\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u4e0d\u8db3\u3059\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u56de\u8def\u306e\u5f62\u6210\u4e0d\u5168\u3084\u5f62\u614b\u7570\u5e38\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>Glass\u75c7\u5019\u7fa4:<\/strong> \u6b74\u53f2\u7684\u306b\u300cGlass\u75c7\u5019\u7fa4\u300d\u3068\u547c\u3070\u308c\u3066\u3044\u305f\u75be\u60a3\u306f\u3001\u73fe\u5728\u3067\u306f\u4e3b\u306b\u3053\u306e<em>SATB2<\/em>\u907a\u4f1d\u5b50\u3092\u542b\u30802q32-q33\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u540c\u7fa9\u3001\u3042\u308b\u3044\u306f\u305d\u306e\u4e00\u90e8\u3068\u8003\u3048\u3089\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\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>2q32-q33\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u306e<strong>\u307b\u307c\u5168\u4f8b<\/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\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\u7a00\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\uff09\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3001\u5b50\u306b\u4e0d\u5747\u8861\u306a\u6b20\u5931\u304c\u751f\u3058\u308b\u3053\u3068\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>\u300c\u53e3\u84cb\u88c2\uff08\u7279\u306b\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\uff09\u300d\u300c\u8a00\u8449\u306e\u9045\u308c\u300d\u300c\u5927\u304d\u306a\u524d\u6b6f\u300d\u306e3\u3064\u304c\u63c3\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u5f37\u304f\u7591\u308f\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>2q32-q33\u9818\u57df\u306e\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u7bc4\u56f2\uff08bp\u5358\u4f4d\uff09\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u7bc4\u56f2\u306b<em>SATB2<\/em>\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3001\u3042\u308b\u3044\u306f\u96a3\u63a5\u3059\u308b\u3069\u306e\u907a\u4f1d\u5b50\u307e\u3067\u6b20\u5931\u3057\u3066\u3044\u308b\u304b\u3092\u77e5\u308b\u3053\u3068\u306f\u3001\u4e88\u5f8c\uff08\u76ae\u819a\u75c7\u72b6\u306e\u6709\u7121\u306a\u3069\uff09\u3092\u4e88\u6e2c\u3059\u308b\u4e0a\u3067\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb \/ \u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u6b20\u5931\u3067\u306f\u306a\u304f\u3001<em>SATB2<\/em>\u907a\u4f1d\u5b50\u5358\u72ec\u306e\u70b9\u5909\u7570\u3067\u3082\u540c\u69d8\u306e\u75c7\u72b6\u304c\u51fa\u308b\u305f\u3081\u3001CMA\u3067\u7570\u5e38\u304c\u306a\u304b\u3063\u305f\u5834\u5408\u306b\u9078\u629e\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\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\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u5bfe\u75c7\u7642\u6cd5\uff08\u7279\u306b\u53e3\u84cb\u88c2\u306e\u6cbb\u7642\uff09\u3068\u3001\u767a\u9054\u3092\u652f\u3048\u308b\u7642\u80b2\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u53e3\u8154\u30fb\u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53e3\u84cb\u88c2\u306e\u624b\u8853:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f62\u6210\u5916\u79d1\u3084\u53e3\u8154\u5916\u79d1\u3067\u3001\u53e3\u84cb\u88c2\u3092\u9589\u9396\u3059\u308b\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\u306e\u7ba1\u7406:<\/strong> \u65b0\u751f\u5150\u671f\u306b\u547c\u5438\u56f0\u96e3\u304c\u3042\u308b\u5834\u5408\u3001\u4f53\u4f4d\u5909\u63db\uff08\u8179\u81e5\u4f4d\uff09\u3084\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u820c\u5507\u7652\u7740\u8853\u306a\u3069\u306e\u5916\u79d1\u7684\u51e6\u7f6e\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u77ef\u6b63\u30fb\u7ba1\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5de8\u5927\u6b6f\u3084\u6b6f\u4e26\u3073\u306e\u60aa\u3055\u3001\u30a8\u30ca\u30e1\u30eb\u8cea\u5f62\u6210\u4e0d\u5168\u306b\u5bfe\u3057\u3001\u9577\u671f\u7684\u306a\u6b6f\u79d1\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002\u866b\u6b6f\u306b\u306a\u308a\u3084\u3059\u3044\u305f\u3081\u3001\u4e88\u9632\u6b6f\u79d1\u304c\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>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u512a\u5148\u306e\u8ab2\u984c<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u53e3\u84cb\u88c2\u306b\u3088\u308b\u69cb\u97f3\u969c\u5bb3\uff08\u767a\u97f3\u306e\u3057\u306b\u304f\u3055\uff09\u3068\u3001\u8133\u6a5f\u80fd\u306b\u3088\u308b\u8a00\u8a9e\u767a\u9054\u9045\u6ede\u306e\u4e21\u9762\u304b\u3089\u30a2\u30d7\u30ed\u30fc\u30c1\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>AAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09\u306e\u5c0e\u5165:<\/strong> \u767a\u8a9e\u304c\u96e3\u3057\u3044\u5834\u5408\u3001\u30b5\u30a4\u30f3\u3001\u7d75\u30ab\u30fc\u30c9\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\uff08VOCA\uff09\u306a\u3069\u3092\u65e9\u671f\u304b\u3089\u5c0e\u5165\u3057\u3001\u300c\u4f1d\u3048\u305f\u3044\u300d\u3068\u3044\u3046\u610f\u6b32\u3092\u652f\u3048\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u304b\u3093\u3057\u3083\u304f\u7b49\u306e\u884c\u52d5\u969c\u5bb3\u304c\u8efd\u6e1b\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6442\u98df\u6307\u5c0e:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u54fa\u4e73\u56f0\u96e3\u3084\u56a5\u4e0b\u969c\u5bb3\u306b\u5bfe\u3057\u3001\u5c02\u9580\u5bb6\u306b\u3088\u308b\u6307\u5c0e\u3084\u3001\u98df\u4e8b\u5f62\u614b\u306e\u8abf\u6574\u3092\u884c\u3044\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>\u9aa8\u5bc6\u5ea6\u306e\u7ba1\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9aa8\u7c97\u9b06\u75c7\u306e\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u9aa8\u5bc6\u5ea6\u691c\u67fb\u3084\u3001\u30d3\u30bf\u30df\u30f3D\u30fb\u30ab\u30eb\u30b7\u30a6\u30e0\u306e\u6442\u53d6\u3001\u9069\u5ea6\u306a\u65e5\u5149\u6d74\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u9aa8\u6298\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u5b66\u7684\u8a55\u4fa1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u6ce2\u691c\u67fb\u3092\u884c\u3044\u3001\u3066\u3093\u304b\u3093\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\uff08\u983b\u5ea6\u306f\u305d\u308c\u307b\u3069\u9ad8\u304f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\uff09\u3002<\/li>\n\n\n\n<li>\u8133\u306eMRI\u691c\u67fb\u3067\u69cb\u9020\u7570\u5e38\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u76ae\u819a\u30b1\u30a2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u76ae\u819a\u304c\u8584\u304f\u4e7e\u71e5\u3057\u3084\u3059\u3044\u5834\u5408\u304c\u3042\u308b\u305f\u3081\u3001\u4fdd\u6e7f\u306a\u3069\u306e\u30b9\u30ad\u30f3\u30b1\u30a2\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\u3084\u5c06\u6765\u3078\u306e\u4e0d\u5b89\u304c\u751f\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\uff08\u7279\u306b\u9577\u671f\u7684\u306a\u9aa8\u306e\u7ba1\u7406\u3084\u3001\u884c\u52d5\u7279\u6027\u3078\u306e\u5bfe\u5fdc\uff09\u306b\u3064\u3044\u3066\u8aac\u660e\u3092\u53d7\u3051\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b21\u5b50\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\u306b\u3064\u3044\u3066\u3082\u76f8\u8ac7\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>2q32-q33 microdeletion syndrome\u306f\u30012\u756a\u67d3\u8272\u4f53\u306e\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\u304a\u5b50\u3055\u3093\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u304a\u53e3\u306e\u5929\u4e95\u304c\u5272\u308c\u3066\u3044\u305f\u308a\uff08\u53e3\u84cb\u88c2\uff09\u3001\u3042\u3054\u304c\u5c0f\u3055\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u8d64\u3061\u3083\u3093\u306e\u9803\u306f\u30df\u30eb\u30af\u3092\u98f2\u3080\u306e\u304c\u5927\u5909\u3060\u3063\u305f\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u307e\u305f\u3001\u4e0a\u306e\u524d\u6b6f\u304c\u5927\u304d\u3044\u306e\u304c\u30c1\u30e3\u30fc\u30e0\u30dd\u30a4\u30f3\u30c8\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\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\u300d\u3053\u3068\u3067\u306f\u306a\u3044\u3067\u3057\u3087\u3046\u304b\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u8133\u306e\u8a00\u8449\u3092\u3064\u304b\u3055\u3069\u308b\u90e8\u5206\u306e\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u306b\u306a\u308b\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3067\u3082\u3001\u5927\u5207\u306a\u304a\u77e5\u3089\u305b\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306e\u304a\u5b50\u3055\u3093\u306f\u3001\u8a00\u8449\u306f\u8a71\u305b\u306a\u304f\u3066\u3082\u3001**\u300c\u5fc3\u306e\u4e2d\u3067\u306f\u305f\u304f\u3055\u3093\u306e\u3053\u3068\u3092\u7406\u89e3\u3057\u3066\u3044\u308b\u300d**\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30cb\u30b3\u30cb\u30b3\u3068\u4eba\u61d0\u3063\u3053\u3044\u7b11\u9854\u3067\u3001\u8eab\u632f\u308a\u624b\u632f\u308a\u3092\u4ea4\u3048\u3066\u3001\u4e00\u751f\u61f8\u547d\u306b\u6c17\u6301\u3061\u3092\u4f1d\u3048\u3088\u3046\u3068\u3057\u3066\u304f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7d75\u30ab\u30fc\u30c9\u3084\u30bf\u30d6\u30ec\u30c3\u30c8\u3092\u4f7f\u3048\u3070\u3001\u3082\u3063\u3068\u30b9\u30e0\u30fc\u30ba\u306b\u304a\u8a71\u3057\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002\u300c\u4f1d\u308f\u3063\u305f\uff01\u300d\u3068\u3044\u3046\u559c\u3073\u306f\u3001\u304a\u5b50\u3055\u3093\u306e\u81ea\u4fe1\u306b\u306a\u308a\u3001\u304b\u3093\u3057\u3083\u304f\u3092\u6e1b\u3089\u3059\u3053\u3068\u306b\u3082\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u9aa8\u304c\u5c11\u3057\u5f31\u3044\u50be\u5411\u304c\u3042\u308b\u306e\u3067\u3001\u30ab\u30eb\u30b7\u30a6\u30e0\u3092\u6442\u3063\u3066\u3001\u5b9a\u671f\u7684\u306b\u30c1\u30a7\u30c3\u30af\u3092\u53d7\u3051\u308b\u3053\u3068\u3082\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u53e3\u84cb\u88c2\u306e\u6cbb\u7642\u3001\u3053\u3068\u3070\u306e\u7df4\u7fd2\u3001\u6b6f\u306e\u30b1\u30a2\u306a\u3069\u3001\u3084\u308b\u3079\u304d\u3053\u3068\u306f\u591a\u3044\u3067\u3059\u304c\u3001\u4e00\u3064\u3072\u3068\u3064\u30af\u30ea\u30a2\u3057\u3066\u3044\u3051\u3070\u5927\u4e08\u592b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u5e2b\u3001\u6b6f\u79d1\u533b\u3001\u8a00\u8a9e\u8074\u899a\u58eb\u3001\u305d\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\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>Glass, I.A., et al.<\/strong> (1989). <em>Two unrelated patients with de novo microdeletion of 2q31.1-q33: a recognizable syndrome?<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u672c\u75c7\u5019\u7fa4\u304c\u300cGlass\u75c7\u5019\u7fa4\u300d\u3068\u547c\u3070\u308c\u308b\u304d\u3063\u304b\u3051\u3068\u306a\u3063\u305f\u6700\u521d\u306e\u75c7\u4f8b\u5831\u544a\u3002\u53e3\u84cb\u88c2\u3001\u8584\u3044\u76ae\u819a\u3001\u7cbe\u795e\u9045\u6ede\u306a\u3069\u306e\u7279\u5fb4\u7684\u306a\u7d44\u307f\u5408\u308f\u305b\u3092\u5831\u544a\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Balasubramanian, M., et al.<\/strong> (2011). <em>Case series: 2q33.1 microdeletion syndrome&#8211;further delineation of the phenotype.<\/em> Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b2q33.1\u6b20\u5931\u3092\u6301\u3064\u60a3\u8005\u306e\u8a73\u7d30\u306a\u81e8\u5e8a\u30c7\u30fc\u30bf\u3092\u89e3\u6790\u3057\u3001SATB2\u907a\u4f1d\u5b50\u304c\u8868\u73fe\u578b\u306e\u4e2d\u5fc3\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002\u884c\u52d5\u7279\u6027\uff08\u591a\u52d5\u3001\u967d\u6c17\u3055\uff09\u306b\u3064\u3044\u3066\u3082\u8a73\u8ff0\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Zarate, Y.A., et al.<\/strong> (2019). <em>Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.<\/em> American Journal of Medical Genetics Part A.\n<ul class=\"wp-block-list\">\n<li>(\u203bSATB2\u95a2\u9023\u75c7\u5019\u7fa4\uff08\u70b9\u5909\u7570\u304a\u3088\u3073\u6b20\u5931\u3092\u542b\u3080\uff09\u306e\u5927\u898f\u6a21\u30b3\u30db\u30fc\u30c8\u7814\u7a76\u3002\u5de8\u5927\u6b6f\u3001\u9aa8\u5bc6\u5ea6\u4f4e\u4e0b\u3001\u8a00\u8a9e\u969c\u5bb3\u306e\u30d1\u30bf\u30fc\u30f3\uff08\u7406\u89e3\uff1e\u8868\u51fa\uff09\u306a\u3069\u3092\u660e\u78ba\u306b\u5b9a\u7fa9\u3057\u305f\u3001\u73fe\u5728\u6700\u3082\u4fe1\u983c\u6027\u306e\u9ad8\u3044\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Rosenfeld, J.A., et al.<\/strong> (2009). <em>Small deletions of SATB2 cause some of the clinical features of the 2q31.1 microdeletion syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b2q31-33\u9818\u57df\u306e\u6b20\u5931\u306b\u304a\u3044\u3066\u3001SATB2\u907a\u4f1d\u5b50\u304c\u5358\u72ec\u3067\u53e3\u84cb\u88c2\u3084\u6b6f\u306e\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3059\u5341\u5206\u306a\u539f\u56e0\u3068\u306a\u308b\u3053\u3068\u3092\u8a3c\u660e\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>2q33.1 microdeletion syndrome<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\u306e\u30b1\u30a2\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4\u3001\u6b6f\u306e\u7ba1\u7406\u306a\u3069\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>SATB2-Associated Syndrome<\/em>. Initial Posting: October 12, 2017; Last Update: January 23, 2020. <em>Authors: Zarate YA, Fish JL.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b2q32-q33\u6b20\u5931\u3092\u542b\u3080SATB2\u95a2\u9023\u75be\u60a3\u306e\u5305\u62ec\u7684\u306a\u7ba1\u7406\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002\u9aa8\u5bc6\u5ea6\u691c\u67fb\u3084\u6b6f\u79d1\u7ba1\u7406\u306e\u63a8\u5968\u4e8b\u9805\u304c\u8a18\u8f09\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-17018","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\/17018","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\/17018\/revisions"}],"predecessor-version":[{"id":17020,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17018\/revisions\/17020"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17018"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}