{"id":17284,"date":"2026-01-22T01:33:37","date_gmt":"2026-01-22T01:33:37","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17284"},"modified":"2026-01-22T08:19:58","modified_gmt":"2026-01-22T08:19:58","slug":"digeorge-velocardiofacial-syndrome-catch22","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/digeorge-velocardiofacial-syndrome-catch22\/","title":{"rendered":"DiGeorge\/Velocardiofacial syndrome (CATCH22)"},"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>22q11.2\u6b20\u5931\u75c7\u5019\u7fa4 (22q11.2 deletion syndrome)<\/strong>\uff1a\u73fe\u5728\u3001\u533b\u5b66\u7684\u306b\u6700\u3082\u4e00\u822c\u7684\u306b\u4f7f\u7528\u3055\u308c\u308b\u5305\u62ec\u7684\u306a\u540d\u79f0\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4 (DiGeorge Syndrome; DGS)<\/strong>\uff1a\u4e3b\u306b\u514d\u75ab\u4e0d\u5168\u3001\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3092\u4e3b\u5fb4\u3068\u3059\u308b\u5834\u5408\u306e\u547c\u79f0\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8edf\u53e3\u84cb\u8840\u7ba1\u9854\u9762\u75c7\u5019\u7fa4 (Velocardiofacial Syndrome; VCFS)<\/strong>\uff1a\u53e3\u84cb\u88c2\u3001\u5fc3\u75be\u60a3\u3001\u7279\u5fb4\u7684\u9854\u8c8c\u3001\u5b66\u7fd2\u969c\u5bb3\u3092\u4e3b\u5fb4\u3068\u3059\u308b\u5834\u5408\u306e\u547c\u79f0\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>CATCH22<\/strong>\uff1a\u672c\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u306a\u75c7\u72b6\u306e\u982d\u6587\u5b57\u3092\u3068\u3063\u305f\u30a2\u30af\u30ed\u30cb\u30e0\uff08\u7565\u8a9e\uff09\u3067\u3059\u3002\n<ul class=\"wp-block-list\">\n<li><strong>C<\/strong>ardiac defects\uff08\u5fc3\u75be\u60a3\uff09<\/li>\n\n\n\n<li><strong>A<\/strong>bnormal facies\uff08\u7279\u5fb4\u7684\u9854\u8c8c\uff09<\/li>\n\n\n\n<li><strong>T<\/strong>hymic hypoplasia\uff08\u80f8\u817a\u4f4e\u5f62\u6210\u306b\u3088\u308b\u514d\u75ab\u4e0d\u5168\uff09<\/li>\n\n\n\n<li><strong>C<\/strong>left palate\uff08\u53e3\u84cb\u88c2\uff09<\/li>\n\n\n\n<li><strong>H<\/strong>ypocalcemia\uff08\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\uff09<\/li>\n\n\n\n<li><strong>22<\/strong>\uff0822\u756a\u67d3\u8272\u4f53\u306e\u7570\u5e38\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5186\u9310\u5207\u75d5\u90e8\u7570\u5e38\u3092\u4f34\u3046\u9854\u8c8c\u75c7\u5019\u7fa4 (Conotruncal Anomaly Face Syndrome; CAFS)<\/strong><\/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>22\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0911.2\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u300122\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306b\u3042\u308b\u300c11.2\u300d\u3068\u3044\u3046\u975e\u5e38\u306b\u7279\u5b9a\u306e\u9818\u57df\u306b\u304a\u3044\u3066\u3001\u5fae\u5c0f\u306a\u6b20\u5931\uff08\u30b3\u30d4\u30fc\u6570\u304c\u901a\u5e38\u306e2\u672c\u304b\u30891\u672c\u306b\u6e1b\u5c11\u3059\u308b\u3053\u3068\uff09\u304c\u751f\u3058\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u6b20\u5931\u7bc4\u56f2\u306f\u7d041.5\u301c3\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u3067\u3042\u308a\u3001\u901a\u5e38\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u5206\u67d3\u6cd5\uff09\u3067\u306f\u78ba\u8a8d\u304c\u56f0\u96e3\u306a\u307b\u3069\u5c0f\u3055\u3044\u305f\u3081\u3001\u300c\u5fae\u5c0f\u6b20\u5931\u300d\u3068\u547c\u3070\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u7d044,000\u4eba \u301c 6,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<p>\u5148\u5929\u6027\u75be\u60a3\u306e\u4e2d\u3067\u306f\u6bd4\u8f03\u7684\u983b\u5ea6\u304c\u9ad8\u304f\u3001\u30c0\u30a6\u30f3\u75c7\u5019\u7fa4\u306b\u6b21\u3044\u3067\u591a\u3044\u67d3\u8272\u4f53\u7570\u5e38\u306e\u4e00\u3064\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4eba\u7a2e\u3084\u6027\u5225\u306b\u3088\u308b\u983b\u5ea6\u306e\u5dee\u306f\u306a\u304f\u3001\u4e16\u754c\u4e2d\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u203b\u8fd1\u5e74\u306e\u8a3a\u65ad\u6280\u8853\u306e\u5411\u4e0a\u306b\u3088\u308a\u3001\u8efd\u75c7\u4f8b\u304c\u898b\u3064\u304b\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u305f\u3081\u3001\u5b9f\u969b\u306b\u306f2,000\u4eba\u301c3,000\u4eba\u306b1\u4eba\u7a0b\u5ea6\u5b58\u5728\u3059\u308b\u306e\u3067\u306f\u306a\u3044\u304b\u3068\u3044\u3046\u63a8\u8a08\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306f\u300c\u591a\u7cfb\u7d71\u75be\u60a3\u300d\u3067\u3042\u308a\u3001\u5168\u8eab\u306e\u3055\u307e\u3056\u307e\u306a\u81d3\u5668\u306b\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u75c7\u72b6\u306e\u7a2e\u985e\u3084\u91cd\u75c7\u5ea6\u306b\u306f\u6975\u3081\u3066\u5927\u304d\u306a\u500b\u4eba\u5dee\uff08\u8868\u73fe\u578b\u306e\u591a\u69d8\u6027\uff09\u304c\u3042\u308b\u3053\u3068\u304c\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08\u7d0475%\u301c80%\uff09<\/strong><\/p>\n\n\n\n<p>\u6700\u3082\u91cd\u7be4\u306b\u306a\u308a\u3084\u3059\u304f\u3001\u65e9\u671f\u306e\u5bfe\u5fdc\u304c\u5fc5\u8981\u306a\u75c7\u72b6\u3067\u3059\u3002\u7279\u306b\u300c\u5fc3\u81d3\u6d41\u51fa\u8def\uff08\u5186\u9310\u5207\u75d5\u90e8\uff09\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<\/strong><\/li>\n\n\n\n<li><strong>\u96e2\u65ad\u578b\u5927\u52d5\u8108\u5f13<\/strong><\/li>\n\n\n\n<li><strong>\u7dcf\u52d5\u8108\u5e79\u75c7<\/strong><\/li>\n\n\n\n<li><strong>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7 (VSD)<\/strong><\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u514d\u75ab\u7cfb\u306e\u7570\u5e38\uff08\u7d0475%\uff09<\/strong><\/p>\n\n\n\n<p>\u5fc3\u81d3\u306e\u8fd1\u304f\u306b\u3042\u308b\u300c\u80f8\u817a\u300d\u304c\u5341\u5206\u306b\u767a\u9054\u3057\u306a\u3044\uff08\u4f4e\u5f62\u6210\u30fb\u6b20\u640d\uff09\u3053\u3068\u306b\u3088\u308a\u3001\u30a6\u30a4\u30eb\u30b9\u3084\u7d30\u83cc\u3068\u6226\u3046\u300cT\u7d30\u80de\u300d\u306e\u6570\u304c\u6e1b\u5c11\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6613\u611f\u67d3\u6027<\/strong>\uff1a\u4e73\u5e7c\u5150\u671f\u306b\u80ba\u708e\u3001\u4e2d\u8033\u708e\u3001\u526f\u9f3b\u8154\u708e\u306a\u3069\u3092\u7e70\u308a\u8fd4\u3057\u3084\u3059\u3044\u3002<\/li>\n\n\n\n<li><strong>\u751f\u30ef\u30af\u30c1\u30f3\u306e\u5236\u9650<\/strong>\uff1a\u514d\u75ab\u72b6\u614b\u306b\u3088\u3063\u3066\u306f\u3001BCG\u3084\u9ebb\u75b9\u98a8\u75b9\u306a\u3069\u306e\u751f\u30ef\u30af\u30c1\u30f3\u63a5\u7a2e\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u203b\u6210\u9577\u3068\u3068\u3082\u306b\u80f8\u817a\u4ee5\u5916\u306e\u5834\u6240\u3067T\u7d30\u80de\u304c\u4f5c\u3089\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u3001\u514d\u75ab\u80fd\u304c\u6539\u5584\u3059\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5185\u5206\u6ccc\u7cfb\u306e\u7570\u5e38\uff08\u7d0450%\uff09<\/strong><\/p>\n\n\n\n<p>\u526f\u7532\u72b6\u817a\u306e\u4f4e\u5f62\u6210\u306b\u3088\u308a\u3001\u8840\u4e2d\u306e\u30ab\u30eb\u30b7\u30a6\u30e0\u6fc3\u5ea6\u3092\u8abf\u7bc0\u3059\u308b\u30d1\u30e9\u30c8\u30eb\u30e2\u30f3\u304c\u4e0d\u8db3\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7<\/strong>\uff1a\u7279\u306b\u65b0\u751f\u5150\u671f\u306b\u3051\u3044\u308c\u3093\uff08\u30c6\u30bf\u30cb\u30fc\uff09\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7<\/strong>\uff1a\u30b9\u30c8\u30ec\u30b9\u3084\u624b\u8853\u6642\u306a\u3069\u306b\u3001\u4e00\u6642\u7684\u306b\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u304c\u518d\u767a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u53e3\u84cb\u304a\u3088\u3073\u69cb\u97f3\u306e\u7570\u5e38\uff08\u7d0470%\u301c80%\uff09<\/strong><\/p>\n\n\n\n<p>\u53e3\u306e\u4e2d\uff08\u8edf\u53e3\u84cb\uff09\u306e\u69cb\u9020\u3084\u52d5\u304d\u306b\u554f\u984c\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7c98\u819c\u4e0b\u53e3\u84cb\u88c2<\/strong>\uff1a\u898b\u305f\u76ee\u306b\u306f\u7a74\u304c\u958b\u3044\u3066\u3044\u306a\u304f\u3066\u3082\u3001\u7b4b\u8089\u304c\u3064\u306a\u304c\u3063\u3066\u3044\u306a\u3044\u72b6\u614b\u3002<\/li>\n\n\n\n<li><strong>\u9f3b\u54bd\u8154\u9589\u9396\u4e0d\u5168<\/strong>\uff1a\u8a71\u3059\u3068\u304d\u306b\u7a7a\u6c17\u304c\u9f3b\u306b\u629c\u3051\u3001\u9f3b\u58f0\uff08\u958b\u9f3b\u58f0\uff09\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6442\u98df\u56a5\u4e0b\u969c\u5bb3<\/strong>\uff1a\u8d64\u3061\u3083\u3093\u306e\u6642\u306b\u30df\u30eb\u30af\u304c\u9f3b\u304b\u3089\u51fa\u3084\u3059\u3044\u3001\u98f2\u307f\u8fbc\u307f\u306b\u304f\u3044\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u7279\u5fb4\u7684\u306a\u9854\u8c8c<\/strong><\/p>\n\n\n\n<p>\u63a7\u3048\u3081\u306a\u7279\u5fb4\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u533b\u5b66\u7684\u306b\u306f\u91cd\u8981\u306a\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9f3b\u6839\u90e8\uff08\u9f3b\u306e\u4ed8\u3051\u6839\uff09\u304c\u5e83\u3044\u3001\u9f3b\u5148\u304c\u4e38\u3044\uff08\u7403\u72b6\u9f3b\uff09\u3002<\/li>\n\n\n\n<li>\u773c\u77bc\u88c2\u304c\u7d30\u3044\uff08\u30bf\u30ec\u76ee\u6c17\u5473\uff09\u3001\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u4ecb\u306e\u5909\u5f62\uff08\u4e0a\u90e8\u304c\u6298\u308c\u66f2\u304c\u3063\u3066\u3044\u308b\u306a\u3069\uff09\u3002<\/li>\n\n\n\n<li>\u5c0f\u984e\u75c7\uff08\u3042\u3054\u304c\u5c0f\u3055\u3044\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>6. \u795e\u7d4c\u767a\u9054\u304a\u3088\u3073\u7cbe\u795e\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<p>\u6210\u9577\u3068\u3068\u3082\u306b\u76f4\u9762\u3059\u308b\u8ab2\u984c\u3068\u3057\u3066\u91cd\u8981\u8996\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u6ede\u30fb\u77e5\u7684\u969c\u5bb3<\/strong>\uff1a\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u6b63\u5e38\u77e5\u80fd\u306e\u7bc4\u56f2\u5185\u306e\u65b9\u3082\u3044\u307e\u3059\u3002\u7b97\u6570\u3084\u6982\u5ff5\u7684\u306a\u7406\u89e3\u304c\u82e6\u624b\u306a\u53cd\u9762\u3001\u8aad\u307f\u66f8\u304d\u3084\u8a18\u61b6\u529b\u304c\u512a\u308c\u3066\u3044\u308b\u3068\u3044\u3063\u305f\u7279\u6027\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c<\/strong>\uff1a\u69cb\u97f3\u306e\u969c\u5bb3\uff08\u3046\u307e\u304f\u767a\u97f3\u3067\u304d\u306a\u3044\uff09\u3068\u8a00\u8a9e\u7372\u5f97\u306e\u9045\u308c\u3002<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u75be\u60a3\u306e\u5408\u4f75<\/strong>\uff1a\u601d\u6625\u671f\u4ee5\u964d\u306b\u3001\u6ce8\u610f\u6b20\u9665\u591a\u52d5\u6027\u969c\u5bb3(ADHD)\u3001\u4e0d\u5b89\u969c\u5bb3\u3001\u305d\u3057\u3066\u7d0425%\u301c30%\u306e\u5272\u5408\u3067\u7d71\u5408\u5931\u8abf\u75c7\u69d8\u75c7\u72b6\u3092\u767a\u75c7\u3059\u308b\u30ea\u30b9\u30af\u304c\u3042\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>7. \u305d\u306e\u4ed6\u306e\u75c7\u72b6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u814e\u5947\u5f62<\/strong>\uff1a\u7247\u814e\u6b20\u640d\u3001\u591a\u56a2\u80de\u6027\u7570\u5f62\u6210\u814e\u306a\u3069\uff08\u7d0430%\uff09\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c\u7570\u5e38<\/strong>\uff1a\u5074\u5f2f\u75c7\u3001\u624b\u6307\u306e\u7d30\u9577\u3055\u3002<\/li>\n\n\n\n<li><strong>\u96e3\u8074<\/strong>\uff1a\u6ef2\u51fa\u6027\u4e2d\u8033\u708e\u306e\u7e70\u308a\u8fd4\u3057\u306b\u3088\u308b\u4f1d\u97f3\u6027\u96e3\u8074\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff08Haploinsufficiency\uff09<\/strong><\/p>\n\n\n\n<p>22q11.2\u9818\u57df\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u3001\u305d\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u7d0430\u301c40\u500b\u306e\u907a\u4f1d\u5b50\u304c\u3001\u901a\u5e38\u306e2\u672c\u304b\u30891\u672c\u306b\u6e1b\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7523\u751f\u91cf\u304c\u534a\u5206\u306b\u306a\u308a\u3001\u80ce\u5150\u671f\u306e\u81d3\u5668\u5f62\u6210\uff08\u7279\u306b\u7b2c3\u30fb\u7b2c4\u54bd\u982d\u56a2\u306e\u5f62\u6210\uff09\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u304f\u306a\u308b\u3053\u3068\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3068\u3057\u3066\u3001<strong>TBX1<\/strong>\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002TBX1\u306f\u5fc3\u81d3\u3001\u80f8\u817a\u3001\u526f\u7532\u72b6\u817a\u3001\u9854\u9762\u306e\u69cb\u9020\u5f62\u6210\u306b\u304a\u3044\u3066\u53f8\u4ee4\u5854\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u8ee2\u5199\u56e0\u5b50\u3067\u3042\u308a\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u4e0d\u8db3\u304c\u672c\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u306a\u8eab\u4f53\u7684\u7279\u5fb4\u306e\u591a\u304f\u3092\u5f15\u304d\u8d77\u3053\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u907a\u4f1d\u306e\u30e1\u30ab\u30cb\u30ba\u30e0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65b0\u751f\u7a81\u7136\u5909\u7570 (\u7d0490%)<\/strong>\uff1a\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3067\u5076\u7136\u306b\u6b20\u5931\u304c\u751f\u3058\u305f\u3082\u306e\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027 (\u7d0410%)<\/strong>\uff1a\u89aa\u306e\u3044\u305a\u308c\u304b\u304c22q11.2\u6b20\u5931\u3092\u6301\u3063\u3066\u304a\u308a\u300150%\u306e\u78ba\u7387\u3067\u5b50\u306b\u907a\u4f1d\u3057\u307e\u3059\u3002\u89aa\u304c\u8efd\u75c7\u3067\u3001\u5b50\u3069\u3082\u306e\u8a3a\u65ad\u3092\u304d\u3063\u304b\u3051\u306b\u89aa\u306e\u6b20\u5931\u304c\u5224\u660e\u3059\u308b\u30b1\u30fc\u30b9\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\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\u672c\u75be\u60a3\u3092\u7591\u3063\u305f\u5834\u5408\u3001\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>FISH\u6cd5 (Fluorescence In Situ Hybridization)<\/strong>\uff1a22q11.2\u9818\u57df\u306b\u7279\u7570\u7684\u306a\u86cd\u5149\u30e9\u30d9\u30eb\u3092\u7528\u3044\u3066\u6b20\u5931\u3092\u691c\u51fa\u3057\u307e\u3059\u3002\u73fe\u5728\u6700\u3082\u4e00\u822c\u7684\u306a\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb (CMA)<\/strong>\uff1a\u67d3\u8272\u4f53\u306e\u5fae\u5c0f\u306a\u5909\u5316\u3092\u30b2\u30ce\u30e0\u5168\u4f53\u3067\u30b9\u30ad\u30e3\u30f3\u3057\u307e\u3059\u3002FISH\u6cd5\u3067\u691c\u51fa\u3067\u304d\u306a\u3044\u6975\u5fae\u5c0f\u306a\u6b20\u5931\u3084\u3001\u6b63\u78ba\u306a\u6b20\u5931\u7bc4\u56f2\u306e\u7279\u5b9a\u304c\u53ef\u80fd\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>MLPA\u6cd5<\/strong>\uff1a\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u9818\u57df\u306e\u30b3\u30d4\u30fc\u6570\u5909\u5316\u3092\u591a\u691c\u4f53\u540c\u6642\u306b\u89e3\u6790\u3059\u308b\u624b\u6cd5\u3067\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u300c\u67d3\u8272\u4f53\u306e\u6b20\u5931\u3092\u6cbb\u3059\u65b9\u6cd5\u300d\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u300c\u5bfe\u75c7\u7642\u6cd5\u300d\u3068\u3001\u9577\u671f\u7684\u306a\u300c\u30c1\u30fc\u30e0\u533b\u7642\u300d\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u81d3\u8840\u7ba1\u5916\u79d1<\/strong>\uff1a\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306b\u5bfe\u3059\u308b\u6839\u6cbb\u8853\u3084\u7de9\u548c\u8853\u3002<\/li>\n\n\n\n<li><strong>\u5f62\u6210\u5916\u79d1<\/strong>\uff1a\u53e3\u84cb\u88c2\u306e\u9589\u9396\u8853\u3084\u3001\u54bd\u982d\u5f01\u5f62\u6210\u8853\uff08\u9f3b\u58f0\u3092\u6539\u5584\u3059\u308b\u305f\u3081\u306e\u624b\u8853\uff09\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u30fb\u77ef\u6b63\u6b6f\u79d1<\/strong>\uff1a\u6b6f\u4e26\u3073\u3084\u54ac\u5408\u306e\u7ba1\u7406\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5185\u79d1\u7684\u30fb\u514d\u75ab\u5b66\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5185\u5206\u6ccc\u79d1<\/strong>\uff1a\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u306b\u5bfe\u3059\u308b\u6d3b\u6027\u578b\u30d3\u30bf\u30df\u30f3D\u88fd\u5264\u3084\u30ab\u30eb\u30b7\u30a6\u30e0\u5264\u306e\u88dc\u5145\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u5150\u79d1\u30fb\u514d\u75ab\u79d1<\/strong>\uff1a\u514d\u75ab\u80fd\u306e\u8a55\u4fa1\u3002T\u7d30\u80de\u304c\u8457\u3057\u304f\u4f4e\u3044\u5834\u5408\u306f\u3001\u611f\u67d3\u4e88\u9632\u306e\u305f\u3081\u306e\u6297\u751f\u5264\u6295\u4e0e\u3084\u8f38\u8840\u6642\u306e\u653e\u5c04\u7dda\u7167\u5c04\uff08GVHD\u4e88\u9632\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u30fb\u6559\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8a00\u8a9e\u7642\u6cd5 (ST)<\/strong>\uff1a\u69cb\u97f3\u8a13\u7df4\u3084\u6442\u98df\u6307\u5c0e\u3002<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5 (PT)\u30fb\u4f5c\u696d\u7642\u6cd5 (OT)<\/strong>\uff1a\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u767a\u9054\u306e\u9045\u308c\u306b\u5bfe\u3059\u308b\u4ecb\u5165\u3002<\/li>\n\n\n\n<li><strong>\u6559\u80b2\u7684\u914d\u616e<\/strong>\uff1a\u500b\u5225\u306e\u6559\u80b2\u652f\u63f4\u8a08\u753b\uff08IEP\uff09\u306e\u7b56\u5b9a\u3002\u62bd\u8c61\u7684\u306a\u6982\u5ff5\u3084\u793e\u4f1a\u6027\u306e\u30b5\u30dd\u30fc\u30c8\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u7cbe\u795e\u533b\u5b66\u7684\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5150\u7ae5\u7cbe\u795e\u79d1\u30fb\u7cbe\u795e\u79d1<\/strong>\uff1a\u601d\u6625\u671f\u4ee5\u964d\u3001\u5b9a\u671f\u7684\u306a\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9\u30c1\u30a7\u30c3\u30af\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u4e0d\u5b89\u3084\u5e7b\u899a\u3001\u5984\u60f3\u306a\u3069\u306e\u4e88\u5146\u3092\u65e9\u671f\u306b\u6349\u3048\u3001\u9069\u5207\u306a\u6295\u85ac\u3084\u74b0\u5883\u8abf\u6574\u3092\u884c\u3046\u3053\u3068\u304c\u3001\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u5b88\u308b\u4e0a\u3067\u6975\u3081\u3066\u91cd\u8981\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\/Velocardiofacial syndrome (CATCH22) \u306f\u3001\u975e\u5e38\u306b\u591a\u5c90\u306b\u308f\u305f\u308b\u75c7\u72b6\u3092\u6301\u3064\u305f\u3081\u3001\u5c0f\u5150\u79d1\u3001\u5faa\u74b0\u5668\u79d1\u3001\u5f62\u6210\u5916\u79d1\u3001\u8033\u9f3b\u79d1\u3001\u5185\u5206\u6ccc\u79d1\u3001\u7cbe\u795e\u79d1\u3001\u305d\u3057\u3066\u907a\u4f1d\u8a3a\u7642\u79d1\u306a\u3069\u3001\u591a\u304f\u306e\u5c02\u9580\u533b\u304c\u9023\u643a\u3059\u308b\u300c\u30c1\u30fc\u30e0\u533b\u7642\u300d\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e73\u5e7c\u5150\u671f\u306b\u306f\u5fc3\u81d3\u3084\u514d\u75ab\u306e\u7ba1\u7406\u304c\u512a\u5148\u3055\u308c\u307e\u3059\u304c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u8a00\u8449\u3084\u5b66\u7fd2\u3001\u305d\u3057\u3066\u5fc3\u306e\u5065\u5eb7\u3078\u3068\u30b5\u30dd\u30fc\u30c8\u306e\u91cd\u70b9\u304c\u79fb\u3063\u3066\u3044\u304d\u307e\u3059\u3002\u4e00\u4eba\u3072\u3068\u308a\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u3066\u9069\u5207\u306a\u4ecb\u5165\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u591a\u304f\u306e\u60a3\u8005\u69d8\u304c\u81ea\u7acb\u3057\u305f\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u6b63\u3057\u3044\u77e5\u8b58\u3092\u6301\u3061\u3001\u65e9\u671f\u304b\u3089\u5305\u62ec\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u4f53\u5236\u3092\u7bc9\u304f\u3053\u3068\u304c\u3001\u304a\u5b50\u69d8\u306e\u5065\u3084\u304b\u306a\u672a\u6765\u306b\u3064\u306a\u304c\u308a\u307e\u3059\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>Shprintzen RJ, et al.<\/strong> (1978). <em>Velo-cardio-facial syndrome: A newly recognized genetic difference syndrome.<\/em> Pediatrics.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u8edf\u53e3\u84cb\u8840\u7ba1\u9854\u9762\u75c7\u5019\u7fa4\u3092\u521d\u3081\u3066\u5b9a\u7fa9\u3057\u305f\u753b\u671f\u7684\u306a\u8ad6\u6587)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Conley ME, et al.<\/strong> (1979). <em>The spectrum of DiGeorge syndrome.<\/em> The Journal of Pediatrics.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u50cf\u306e\u591a\u69d8\u6027\u3092\u8a73\u8ff0\u3057\u305f\u91cd\u8981\u6587\u732e)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Burn J, et al.<\/strong> (1993). <em>CATCH 22: a acronym of DiGeorge syndrome, velocardiofacial syndrome and conotruncal anomaly face syndrome.<\/em> Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203bCATCH22\u306e\u30a2\u30af\u30ed\u30cb\u30e0\u3092\u63d0\u5531\u3057\u3001\u5404\u75be\u60a3\u306e\u7d71\u5408\u3092\u52a0\u901f\u3055\u305b\u305f\u7814\u7a76)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>McDonald-McGinn DM, et al.<\/strong> (2015). <em>22q11.2 deletion syndrome.<\/em> Nature Reviews Disease Primers.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u672c\u75be\u60a3\u306b\u95a2\u3059\u308b\u73fe\u4ee3\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3068\u306a\u308b\u5305\u62ec\u7684\u30ec\u30d3\u30e5\u30fc)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Kobayashi H, et al.<\/strong> (2020). <em>Japanese clinical practice guidelines for 22q11.2 deletion syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u65e5\u672c\u56fd\u5185\u306e\u8a3a\u7642\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3001\u56fd\u5185\u306e\u983b\u5ea6\u3084\u7ba1\u7406\u6307\u91dd\u306b\u95a2\u3059\u308b\u60c5\u5831\u6e90)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>22q11.2 Deletion Syndrome<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u8a3a\u65ad\u3001\u7ba1\u7406\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u95a2\u3059\u308b\u6700\u65b0\u306e\u533b\u5b66\u7684\u77e5\u898b\u3092\u63d0\u4f9b\u3059\u308b\u4e16\u754c\u7684\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9)<\/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-17284","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\/17284","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\/17284\/revisions"}],"predecessor-version":[{"id":17597,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17284\/revisions\/17597"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17284"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}