{"id":17278,"date":"2026-01-22T01:25:54","date_gmt":"2026-01-22T01:25:54","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17278"},"modified":"2026-01-22T01:26:49","modified_gmt":"2026-01-22T01:26:49","slug":"digeorge-syndrome-velocardiofacial-syndrome-complex-2-dsg2","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/digeorge-syndrome-velocardiofacial-syndrome-complex-2-dsg2\/","title":{"rendered":"DiGeorge syndrome\/ velocardiofacial syndrome complex 2 (DSG2)"},"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><strong>10p13-p14\u6b20\u5931\u75c7\u5019\u7fa4\uff0810p13-p14 deletion syndrome\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u907a\u4f1d\u5b66\u7684\u306b\u6700\u3082\u6b63\u78ba\u306a\u3001\u67d3\u8272\u4f53\u306e\u72b6\u614b\u3092\u8868\u3059\u540d\u79f0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>10p14\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\uff0810p14 microdeletion syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>HDR\u75c7\u5019\u7fa4\uff08HDR syndrome\uff09\u3068\u306e\u95a2\u9023:<\/strong>\n<ul class=\"wp-block-list\">\n<li>10p14\u9818\u57df\u306e\u8fd1\u508d\u306b\u3042\u308b10p15\u9818\u57df\u306e\u6b20\u5931\u306f\u3001HDR\u75c7\u5019\u7fa4\uff08Hypoparathyroidism, Deafness, Renal anomaly\uff1a\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3001\u96e3\u8074\u3001\u814e\u7570\u5e38\uff09\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002DGS2\u306e\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u3044\u5834\u5408\u3001\u3053\u308c\u3089\u306e\u75c7\u72b6\u304c\u91cd\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4 1\u578b\uff09\u3068\u306e\u9451\u5225:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u75c7\u72b6\u304c\u9177\u4f3c\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u4ee5\u524d\u306f\u6df7\u540c\u3055\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u73fe\u5728\u306f\u67d3\u8272\u4f5310\u756a\u306e\u539f\u56e0\u306b\u3088\u308b\u3082\u306e\u3092\u300c2\u578b\uff08DGS2\uff09\u300d\u3068\u533a\u5225\u3057\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>10\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0913\u304b\u308914\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e10\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306e\u5148\u7aef\u306b\u8fd1\u3044\u300c14\u300d\u304b\u3089\u300c13\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>\u80ce\u5150\u671f\u306b\u304a\u3051\u308b\u300c\u7b2c3\u30fb\u7b2c4\u54bd\u982d\u56a2\uff08\u3044\u3093\u3068\u3046\u306e\u3046\uff09\u300d\u3068\u3044\u3046\u7d44\u7e54\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u304c\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u3053\u304b\u3089\u80f8\u817a\u3001\u526f\u7532\u72b6\u817a\u3001\u5fc3\u81d3\u306e\u6d41\u51fa\u8def\u306a\u3069\u304c\u4f5c\u3089\u308c\u308b\u305f\u3081\u3001\u3053\u306e\u9818\u57df\u304c\u6b20\u5931\u3059\u308b\u3068\u3053\u308c\u3089\u306e\u81d3\u5668\u306b\u4e00\u9023\u306e\u7570\u5e38\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u6700\u91cd\u8981\u907a\u4f1d\u5b50\uff1aGATA3 \u304a\u3088\u3073\u305d\u306e\u4ed6\u5019\u88dc\u907a\u4f1d\u5b50\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>GATA3 (GATA Binding Protein 3):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u80f8\u817a\u306e\u767a\u9054\u3001\u514d\u75ab\u7d30\u80de\uff08T\u7d30\u80de\uff09\u306e\u5206\u5316\u3001\u526f\u7532\u72b6\u817a\u3084\u8033\u3001\u814e\u81d3\u306e\u5f62\u6210\u306b\u4e0d\u53ef\u6b20\u306a\u53f8\u4ee4\u5854\u3068\u306a\u308b\u907a\u4f1d\u5b50\u3067\u3059\u300210p14\u9818\u57df\u306e\u6b20\u5931\u306bGATA3\u304c\u542b\u307e\u308c\u308b\u3068\u3001\u514d\u75ab\u4e0d\u5168\u3084\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u304c\u9855\u8457\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>CUGBP2 \/ CUEDC2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u81d3\u306e\u5f62\u6210\u3084\u795e\u7d4c\u767a\u9054\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u7814\u7a76\u3055\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u7bc4\u56f2\u306b\u542b\u307e\u308c\u308b\u3053\u3068\u3067\u3001DGS2\u7279\u6709\u306e\u5fc3\u75be\u60a3\u3084\u767a\u9054\u9045\u6ede\u304c\u751f\u3058\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\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\u6709\u75c5\u7387\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u5168\u4f53\u306e\u7d0490%\u4ee5\u4e0a\u306f22q11.2\u6b20\u5931\uff081\u578b\uff09\u3067\u3042\u308a\u3001\u3053\u306e<strong>10p13-p14\u6b20\u5931\u306b\u3088\u308b2\u578b\uff08DGS2\uff09\u306f\u975e\u5e38\u306b\u5e0c\u5c11<\/strong>\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5168\u4e16\u754c\u3067\u306e\u5831\u544a\u4f8b\u3082\u9650\u3089\u308c\u3066\u304a\u308a\u3001\u6570\u4e07\u4eba\u306b1\u4eba\u4ee5\u4e0b\u306e\u983b\u5ea6\u3068\u63a8\u6e2c\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>22q11.2\u6b20\u5931\u304c\u7591\u308f\u308c\u308b\u60a3\u8005\u306e\u3046\u3061\u3001\u691c\u67fb\u306722\u756a\u306b\u7570\u5e38\u304c\u898b\u3064\u304b\u3089\u306a\u304b\u3063\u305f\u30b1\u30fc\u30b9\u306e\u4e00\u90e8\u306b\u3001\u3053\u306e10\u756a\u67d3\u8272\u4f53\u306e\u7570\u5e38\uff08DGS2\uff09\u304c\u96a0\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>DGS2\u306e\u75c7\u72b6\u306f\u300122q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u5171\u901a\u3059\u308b\u90e8\u5206\u304c\u591a\u3044\u3067\u3059\u304c\u3001<strong>\u300c\u514d\u75ab\u4e0d\u5168\u300d\u3084\u300c\u814e\u5947\u5f62\u300d\u306e\u983b\u5ea6\u304c22q11.2\u6b20\u5931\u3088\u308a\u3082\u9ad8\u3044\u53ef\u80fd\u6027<\/strong>\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08Cardiac anomalies\uff09<\/strong><\/p>\n\n\n\n<p>\u60a3\u8005\u306e\u7d04\u534a\u6570\u304b\u3089\u305d\u308c\u4ee5\u4e0a\u306b\u898b\u3089\u308c\u308b\u3001\u751f\u547d\u4e88\u5f8c\u306b\u76f4\u7d50\u3059\u308b\u91cd\u8981\u306a\u75c7\u72b6\u3067\u3059\u3002\u7279\u306b\u300c\u5fc3\u81d3\u304b\u3089\u8840\u6db2\u304c\u51fa\u308b\u9053\u300d\u306e\u7570\u5e38\u304c\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\uff08Tetralogy of Fallot\uff09:<\/strong> \u8840\u6db2\u304c\u6df7\u3056\u308a\u3001\u30c1\u30a2\u30ce\u30fc\u30bc\uff08\u4f53\u304c\u9752\u767d\u304f\u306a\u308b\uff09\u304c\u8d77\u304d\u308b\u75c5\u6c17\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09 \/ \u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09:<\/strong> \u5fc3\u81d3\u306e\u58c1\u306b\u7a74\u304c\u958b\u3044\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5927\u52d5\u8108\u5f13\u96e2\u65ad \/ \u52d5\u8108\u7ba1\u958b\u5b58\u75c7:<\/strong> \u8840\u7ba1\u306e\u3064\u306a\u304c\u308a\u65b9\u304c\u6b63\u5e38\u3068\u7570\u306a\u308b\u7570\u5e38\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u514d\u75ab\u4e0d\u5168\uff08Immunodeficiency\uff09\uff1a\u80f8\u817a\u4f4e\u5f62\u6210<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80f8\u817a\u306e\u6b20\u640d\u30fb\u4f4e\u5f62\u6210:<\/strong>\n<ul class=\"wp-block-list\">\n<li>10p13-p14\u9818\u57df\u306f\u80f8\u817a\u306e\u767a\u9054\u306b\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u80f8\u817a\u306fT\u7d30\u80de\uff08\u30a6\u30a4\u30eb\u30b9\u3084\u7d30\u83cc\u3068\u6226\u3046\u7d30\u80de\uff09\u3092\u80b2\u3066\u308b\u5834\u6240\u3067\u3042\u308b\u305f\u3081\u3001\u3053\u3053\u304c\u672a\u767a\u9054\u3060\u3068**\u300cT\u7d30\u80de\u6b20\u640d\u300d**\u304c\u8d77\u304d\u3001\u91cd\u3044\u611f\u67d3\u75c7\u306b\u304b\u304b\u308a\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5b8c\u5168\u306b\u80f8\u817a\u304c\u306a\u3044\u300c\u5b8c\u5168\u578b\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u300d\u3068\u306a\u308b\u30ea\u30b9\u30af\u304c\u300122q11.2\u6b20\u5931\u3088\u308a\u3082\u9ad8\u3044\u3068\u3044\u3046\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5185\u5206\u6ccc\u7570\u5e38\uff1a\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u526f\u7532\u72b6\u817a\u304c\u5c0f\u3055\u3044\u305f\u3081\u3001\u8840\u6db2\u4e2d\u306e\u30ab\u30eb\u30b7\u30a6\u30e0\u6fc3\u5ea6\u3092\u7dad\u6301\u3059\u308b\u30db\u30eb\u30e2\u30f3\u304c\u8db3\u308a\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u75c7\u72b6:<\/strong> \u8d64\u3061\u3083\u3093\u6642\u671f\u306e\u3051\u3044\u308c\u3093\uff08\u30c6\u30bf\u30cb\u30fc\uff09\u3001\u7b4b\u786c\u76f4\u306a\u3069\u304c\u73fe\u308c\u307e\u3059\u3002\u6210\u9577\u5f8c\u3082\u30b9\u30c8\u30ec\u30b9\u6642\u306b\u30ab\u30eb\u30b7\u30a6\u30e0\u304c\u4e0b\u304c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>22q11.2\u6b20\u5931\u3068\u5171\u901a\u3057\u305f\u3001\u3044\u304f\u3064\u304b\u306e\u63a7\u3048\u3081\u3067\u3059\u304c\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c:<\/strong> \u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3001\u773c\u77bc\u88c2\u659c\u4e0b\uff08\u30bf\u30ec\u76ee\uff09\u3002<\/li>\n\n\n\n<li><strong>\u9f3b:<\/strong> \u9f3b\u6839\u90e8\u304c\u5e73\u5766\u3001\u9f3b\u5148\u304c\u4e38\u3044\u3002<\/li>\n\n\n\n<li><strong>\u53e3\u30fb\u984e:<\/strong> \u5c0f\u984e\u75c7\uff08\u3042\u3054\u304c\u5c0f\u3055\u3044\uff09\u3001\u8033\u306e\u5f62\u304c\u7279\u5fb4\u7684\uff08\u4f4e\u4f4d\u4ed8\u7740\u8033\u3001\u5f8c\u65b9\u56de\u8ee2\u306a\u3069\uff09\u3002<\/li>\n\n\n\n<li><strong>\u53e3\u84cb:<\/strong> \u8edf\u53e3\u84cb\u9ebb\u75fa\u3084\u7c98\u819c\u4e0b\u53e3\u84cb\u88c2\uff08\u898b\u305f\u76ee\u306f\u3064\u306a\u304c\u3063\u3066\u3044\u308b\u304c\u4e2d\u306e\u7b4b\u8089\u304c\u5206\u304b\u308c\u3066\u3044\u308b\uff09\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u30df\u30eb\u30af\u304c\u9f3b\u304b\u3089\u51fa\u308b\u3001\u8a00\u8449\u304c\u9f3b\u306b\u629c\u3051\u308b\uff08\u958b\u9f3b\u58f0\uff09\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u51fa\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u814e\u81d3\u30fb\u6ccc\u5c3f\u5668\u306e\u7570\u5e38\uff08Renal anomalies\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u814e\u6b20\u640d\u30fb\u814e\u5f62\u6210\u4e0d\u5168:<\/strong> \u7247\u65b9\u306e\u814e\u81d3\u304c\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u975e\u5e38\u306b\u5c0f\u3055\u3044\u3002<\/li>\n\n\n\n<li><strong>\u8180\u80f1\u5c3f\u7ba1\u9006\u6d41\u75c7:<\/strong> \u5c3f\u304c\u9006\u6d41\u3057\u3001\u814e\u76c2\u708e\u306a\u3069\u3092\u8d77\u3053\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u203b10p\u9818\u57df\u306e\u6b20\u5931\u3067\u306f\u300122\u756a\u306e\u6b20\u5931\u3088\u308a\u3082\u814e\u5947\u5f62\u306e\u5408\u4f75\u7387\u304c\u9ad8\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>6. \u795e\u7d4c\u767a\u9054\u30fb\u7cbe\u795e\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u6ede\u30fb\u77e5\u7684\u969c\u5bb3:<\/strong> \u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b:<\/strong> \u4e73\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u904b\u52d5\u767a\u9054\uff08\u9996\u3059\u308f\u308a\u3001\u6b69\u884c\uff09\u304c\u3086\u3063\u304f\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8449\u306e\u9045\u308c:<\/strong> \u69cb\u97f3\u969c\u5bb3\uff08\u3046\u307e\u304f\u767a\u97f3\u3067\u304d\u306a\u3044\uff09\u3084\u8a00\u8a9e\u7372\u5f97\u306e\u9045\u308c\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>10\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff0810p13-p14\uff09\u306e\u5fae\u5c0f\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \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>\u60a3\u8005\u306e\u7d0490%\u4ee5\u4e0a\u306f\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u306b\u6b20\u5931\u304c\u751f\u3058\u305f\u3082\u306e\u3067\u3059\u3002\u3053\u308c\u306f\u8ab0\u306e\u305b\u3044\u3067\u3082\u306a\u304f\u3001\u4e88\u9632\u3067\u304d\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e0d\u5747\u8861\u578b\u8ee2\u5ea7\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7a00\u306b\u3001\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u304c\u3001\u91cf\u306f\u6b63\u5e38\u306a\u306e\u3067\u5065\u5eb7\uff09\u300d\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u5b50\u306b\u4e0d\u5747\u8861\u306a\u5f62\u3067\u53d7\u3051\u7d99\u304c\u308c\u308b\u3068\u6b20\u5931\u304c\u751f\u3058\u3001\u518d\u767a\u30ea\u30b9\u30af\u3092\u8003\u616e\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u30cf\u30d7\u30ed\u4e0d\u5168<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u907a\u4f1d\u5b50\u306f\u901a\u5e382\u672c\u3067\u30da\u30a2\u3067\u3059\u304c\u30011\u672c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7523\u751f\u91cf\u304c\u534a\u5206\u306b\u306a\u308a\u307e\u3059\u3002<em>GATA3<\/em>\u306a\u3069\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u534a\u5206\u306b\u306a\u308b\u3060\u3051\u3067\u3001\u8907\u96d1\u306a\u81d3\u5668\u5f62\u6210\uff08\u7279\u306b\u5fc3\u81d3\u3084\u80f8\u817a\uff09\u306e\u30d7\u30ed\u30bb\u30b9\u304c\u9014\u4e2d\u3067\u6b62\u307e\u3063\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u539f\u56e0\u3067\u3059\u3002<\/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\u304b\u3089\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u3067\u3082\u300122\u756a\u306e\u691c\u67fb\u304c\u9670\u6027\u3067\u3042\u308b\u3068\u304d\u306b10\u756a\u306e\u7570\u5e38\u3092\u7591\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>FISH\u6cd5\uff08\u86cd\u5149\u30a4\u30f3\u30b5\u30a4\u30c1\u30e5\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>10p13-p14\u9818\u57df\u306b\u7279\u7570\u7684\u306a\u86cd\u5149\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u3001\u6b20\u5931\u306e\u6709\u7121\u3092\u76f4\u63a5\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\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><strong>\u73fe\u5728\u3001\u6700\u3082\u63a8\u5968\u3055\u308c\u308b\u691c\u67fb<\/strong>\u3067\u3059\u300210\u756a\u67d3\u8272\u4f53\u306e\u3069\u306e\u7bc4\u56f2\u304c\u3001\u3069\u306e\u304f\u3089\u3044\u6b20\u3051\u3066\u3044\u308b\u304b\u3092\u6b63\u78ba\u306b\u6e2c\u5b9a\u3067\u304d\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u8fd1\u96a3\u306e<em>GATA3<\/em>\u907a\u4f1d\u5b50\u306a\u3069\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u3082\u5206\u304b\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u691c\u67fb\u30fb\u8840\u6db2\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u30a8\u30b3\u30fc:<\/strong> \u5fc3\u75be\u60a3\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3002<\/li>\n\n\n\n<li><strong>\u8840\u6db2\u691c\u67fb:<\/strong> T\u7d30\u80de\u6570\uff08\u514d\u75ab\uff09\u3001\u30ab\u30eb\u30b7\u30a6\u30e0\u5024\uff08\u526f\u7532\u72b6\u817a\uff09\u306e\u6e2c\u5b9a\u3002<\/li>\n\n\n\n<li><strong>\u8179\u90e8\u30a8\u30b3\u30fc:<\/strong> \u814e\u5947\u5f62\u306e\u6709\u7121\u3092\u78ba\u8a8d\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\u6cbb\u3059\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u304c\u3001\u5404\u75c7\u72b6\u306b\u5bfe\u3057\u3066\u65e9\u671f\u304b\u3089\u5c02\u9580\u7684\u306a\u4ecb\u5165\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u826f\u597d\u306a\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5916\u79d1\u7684\u6cbb\u7642\uff08\u5fc3\u75be\u60a3\u30fb\u53e3\u84cb\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u81d3\u624b\u8853:<\/strong> \u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u306a\u3069\u306e\u5fc3\u75be\u60a3\u306b\u5bfe\u3057\u3001\u9069\u5207\u306a\u6642\u671f\u306b\u5916\u79d1\u7684\u77ef\u6b63\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f62\u6210\u5916\u79d1\u7684\u6cbb\u7642:<\/strong> \u53e3\u84cb\u88c2\u3084\u8edf\u53e3\u84cb\u9589\u9396\u4e0d\u5168\u306b\u5bfe\u3057\u3001\u8a00\u8a9e\u3084\u98df\u4e8b\u3092\u6539\u5584\u3059\u308b\u305f\u3081\u306e\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5185\u79d1\u7684\u30fb\u514d\u75ab\u5b66\u7684\u7ba1\u7406\uff08\u91cd\u8981\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30ab\u30eb\u30b7\u30a6\u30e0\u88dc\u5145:<\/strong> \u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u306b\u5bfe\u3057\u3001\u6d3b\u6027\u578b\u30d3\u30bf\u30df\u30f3D\u88fd\u5264\u3084\u30ab\u30eb\u30b7\u30a6\u30e0\u5264\u306e\u6295\u4e0e\u3092\u751f\u6daf\u306b\u308f\u305f\u3063\u3066\u7d99\u7d9a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u514d\u75ab\u7ba1\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u514d\u75ab\u4e0d\u5168\u304c\u3042\u308b\u5834\u5408\u3001<strong>\u751f\u30ef\u30af\u30c1\u30f3\u306e\u63a5\u7a2e\u3092\u63a7\u3048\u308b<\/strong>\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u611f\u67d3\u75c7\u4e88\u9632\u306e\u305f\u3081\u306e\u6297\u751f\u5264\u6295\u4e0e\u3084\u3001\u8f38\u8840\u304c\u5fc5\u8981\u306a\u969b\u306e\u5916\u7167\u5c04\u8840\uff08\u30c9\u30ca\u30fc\u306e\u7d30\u80de\u3092\u9664\u53bb\u3057\u305f\u3082\u306e\uff09\u306e\u4f7f\u7528\u306a\u3069\u306e\u914d\u616e\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6975\u3081\u3066\u7a00\u306a\u300c\u5b8c\u5168\u578b\u300d\u3067\u306f\u80f8\u817a\u79fb\u690d\u306a\u3069\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u767a\u9054\u30fb\u6559\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2:<\/strong> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u5bfe\u3059\u308b\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff08PT\/OT\uff09\u3084\u3001\u8a00\u8449\u306e\u8a13\u7df4\uff08ST\uff09\u3092\u65e9\u671f\u304b\u3089\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5225\u306a\u6559\u80b2\u7684\u914d\u616e:<\/strong> \u77e5\u7684\u969c\u5bb3\u3084\u5b66\u7fd2\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u5408\u308f\u305b\u3001\u500b\u5225\u306e\u652f\u63f4\u8a08\u753b\uff08IEP\uff09\u306b\u57fa\u3065\u3044\u305f\u6559\u80b2\u74b0\u5883\u3092\u6574\u3048\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u814e\u81d3\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u814e\u5947\u5f62\u304c\u3042\u308b\u5834\u5408\u3001\u5b9a\u671f\u7684\u306b\u5c3f\u691c\u67fb\u3084\u30a8\u30b3\u30fc\u3092\u884c\u3044\u3001\u814e\u6a5f\u80fd\u304c\u7dad\u6301\u3055\u308c\u3066\u3044\u308b\u304b\u3001\u5c3f\u8def\u611f\u67d3\u75c7\u304c\u306a\u3044\u304b\u3092\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u672c\u75be\u60a3\u306f\u5e0c\u5c11\u3067\u3042\u308b\u305f\u3081\u3001\u3054\u5bb6\u65cf\u306e\u4e0d\u5b89\u306f\u975e\u5e38\u306b\u5927\u304d\u304f\u306a\u308a\u307e\u3059\u300222q11.2\u6b20\u5931\u3068\u306e\u9055\u3044\u3084\u3001\u305d\u308c\u305e\u308c\u306e\u5408\u4f75\u75c7\u306b\u5bfe\u3059\u308b\u9577\u671f\u7684\u306a\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u3001\u5c02\u9580\u533b\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8\u304c\u4e0d\u53ef\u6b20\u3067\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>DiGeorge syndrome \/ velocardiofacial syndrome complex 2 (DGS2) \u306f\u300110\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u3066\u3044\u308b\u3053\u3068\u3067\u3001\u5fc3\u81d3\u3001\u514d\u75ab\u3001\u30ab\u30eb\u30b7\u30a6\u30e0\u8abf\u7bc0\u3001\u814e\u81d3\u306a\u3069\u5168\u8eab\u306b\u3055\u307e\u3056\u307e\u306a\u7279\u5fb4\u304c\u73fe\u308c\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c1\u578b\u300d\u3068\u3057\u3066\u77e5\u3089\u308c\u308b22\u756a\u67d3\u8272\u4f53\u306e\u6b20\u5931\u3068\u3088\u304f\u4f3c\u3066\u3044\u307e\u3059\u304c\u3001DGS2\u3067\u306f\u7279\u306b\u514d\u75ab\u7cfb\u3084\u814e\u81d3\u306e\u30c1\u30a7\u30c3\u30af\u304c\u91cd\u8981\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u591a\u304f\u306e\u8a3a\u7642\u79d1\u3092\u53d7\u8a3a\u3059\u308b\u3053\u3068\u306f\u5927\u5909\u306a\u8ca0\u62c5\u3067\u3059\u304c\u3001\u5fc3\u81d3\u8840\u7ba1\u5916\u79d1\u3001\u5c0f\u5150\u79d1\u3001\u514d\u75ab\u5b66\u3001\u5185\u5206\u6ccc\u5b66\u306e\u5c02\u9580\u5bb6\u304c\u9023\u643a\u3059\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u306f\u305d\u308c\u305e\u308c\u306e\u58c1\u3092\u4e57\u308a\u8d8a\u3048\u3066\u6210\u9577\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u65e9\u671f\u306b\u8a3a\u65ad\u3092\u53d7\u3051\u3001\u9069\u5207\u306a\u514d\u75ab\u7ba1\u7406\u3068\u30ab\u30eb\u30b7\u30a6\u30e0\u88dc\u7d66\u3092\u884c\u3046\u3053\u3068\u304c\u3001\u5c06\u6765\u306e\u5065\u5eb7\u3092\u5b88\u308b\u9375\u3068\u306a\u308a\u307e\u3059\u3002\u3086\u3063\u304f\u308a\u3068\u3057\u305f\u767a\u9054\u306e\u6b69\u307f\u306b\u5408\u308f\u305b\u3001\u7642\u80b2\u3084\u6559\u80b2\u306e\u5834\u3067\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u7d44\u307f\u5408\u308f\u305b\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>Schuffenhauer, S., et al.<\/strong> (1998). <em>The 10p13-p14 DiGeorge critical region (DGCR2).<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bDGS2\u306e\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\u3092\u7279\u5b9a\u3057\u300110\u756a\u67d3\u8272\u4f53\u77ed\u8155\u6b20\u5931\u3068\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u306e\u95a2\u9023\u3092\u78ba\u7acb\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Lichtner, P., et al.<\/strong> (2000). <em>An integrated genetic and cytogenetic map of the DiGeorge syndrome 2 region on 10p14-p13.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bDGS2\u9818\u57df\u306e\u907a\u4f1d\u5b50\u30de\u30c3\u30d7\u3092\u8a73\u7d30\u306b\u793a\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Yagi, H., et al.<\/strong> (2003). <em>GATA3 haploinsufficiency causes human HDR syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bDGS2\u3068\u5bc6\u63a5\u306b\u95a2\u9023\u3059\u308b10p\u6b20\u5931\u9818\u57df\u306eGATA3\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u4e0d\u5168\u304c\u3001\u526f\u7532\u72b6\u817a\u3084\u8074\u899a\u306b\u4e0e\u3048\u308b\u5f71\u97ff\u3092\u89e3\u6790\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>10p deletions<\/em> (2018).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\u306e\u60a3\u8005\u56e3\u4f53\u306b\u3088\u308b\u300110p\u6b20\u5931\u3092\u6301\u3064\u3054\u5bb6\u65cf\u5411\u3051\u306e\u5305\u62ec\u7684\u306a\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>22q11.2 Deletion Syndrome<\/em>. (\u203bDGS2\u3068\u306e\u81e8\u5e8a\u7684\u6bd4\u8f03\u306b\u304a\u3044\u3066\u30011\u578b\u306e\u7ba1\u7406\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u304c\u53c2\u7167\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3002)<\/li>\n\n\n\n<li><strong>OMIM (Online Mendelian Inheritance in Man)<\/strong>: <em>#601362 DIGEORGE SYNDROME, TYPE II; DGS2<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u672c\u75be\u60a3\u306e\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u3001\u75c7\u4f8b\u5831\u544a\u3001\u907a\u4f1d\u5b50\u5ea7\u306b\u95a2\u3059\u308b\u6700\u65b0\u306e\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-17278","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\/17278","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":3,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17278\/revisions"}],"predecessor-version":[{"id":17283,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17278\/revisions\/17283"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17278"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}