{"id":16927,"date":"2026-01-21T02:34:01","date_gmt":"2026-01-21T02:34:01","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16927"},"modified":"2026-01-21T02:34:01","modified_gmt":"2026-01-21T02:34:01","slug":"22q11-2-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/22q11-2-deletion-syndrome\/","title":{"rendered":"22q11.2 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>22q11.2\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\uff08DiGeorge syndrome; DGS\uff09<\/li>\n\n\n\n<li>\u30d9\u30ed\u30fb\u30ab\u30eb\u30c7\u30a3\u30aa\u30fb\u30d5\u30a7\u30a4\u30b7\u30e3\u30eb\u75c7\u5019\u7fa4\uff08Velocardiofacial syndrome; VCFS\uff09<\/li>\n\n\n\n<li>\u5186\u9310\u52d5\u8108\u5e79\u7570\u5e38\u9854\u8c8c\u75c7\u5019\u7fa4\uff08Conotruncal anomaly face syndrome; CTAF\uff09<\/li>\n\n\n\n<li>CATCH22\uff08\u30ad\u30e3\u30c3\u30c122\uff09\u203b\u73fe\u5728\u306f\u3042\u307e\u308a\u4f7f\u7528\u3055\u308c\u307e\u305b\u3093<\/li>\n\n\n\n<li>Opitz G\/BBB\u75c7\u5019\u7fa4\uff08\u4e00\u90e8\u306e\u75c7\u4f8b\uff09<\/li>\n\n\n\n<li>Cayler cardiofacial\u75c7\u5019\u7fa4\uff08\u4e00\u90e8\u306e\u75c7\u4f8b\uff09<\/li>\n\n\n\n<li>22q11.2DS<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u75be\u60a3\u540d\u306e\u5909\u9077\u306b\u3064\u3044\u3066\uff1a<\/p>\n\n\n\n<p>\u6b74\u53f2\u7684\u306b\u306f\u3001\u514d\u75ab\u4e0d\u5168\u3068\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u3092\u4e3b\u5fb4\u3068\u3059\u308b\u300cDiGeorge\u75c7\u5019\u7fa4\u300d\u3001\u53e3\u84cb\u88c2\u3068\u5fc3\u75be\u60a3\u3092\u4e3b\u5fb4\u3068\u3059\u308b\u300cVCFS\u300d\u3001\u65e5\u672c\u3067\u5831\u544a\u3055\u308c\u305f\u5fc3\u75be\u60a3\u3068\u9854\u8c8c\u7279\u5fb4\u3092\u4e3b\u5fb4\u3068\u3059\u308b\u300cCTAF\u300d\u306a\u3069\u3001\u5225\u3005\u306e\u75be\u60a3\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3057\u305f\u3002\u3057\u304b\u3057\u3001\u305d\u306e\u5f8c\u306e\u7814\u7a76\u3067\u3001\u3053\u308c\u3089\u304c\u3059\u3079\u3066\u300c22\u756a\u67d3\u8272\u4f53\u306e\u540c\u3058\u5834\u6240\u306e\u6b20\u5931\u300d\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3053\u3068\u304c\u5224\u660e\u3057\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u306f\u3053\u308c\u3089\u3092\u7d71\u4e00\u3057\u3066**\u300c22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u300d**\u3068\u547c\u3076\u3053\u3068\u304c\u56fd\u969b\u7684\u306a\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u304c\u975e\u5e38\u306b\u591a\u69d8\u3067\u3042\u308b\u305f\u3081\u3001\u540c\u3058\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u300c\u5fc3\u81d3\u304c\u60aa\u3044\u30bf\u30a4\u30d7\u300d\u300c\u53e3\u84cb\u88c2\u304c\u3042\u308b\u30bf\u30a4\u30d7\u300d\u306a\u3069\u3001\u4eba\u306b\u3088\u3063\u3066\u8a3a\u65ad\u540d\u306e\u5165\u308a\u53e3\u304c\u7570\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\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\u3001\u30d2\u30c8\u306e22\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u4ed8\u3051\u6839\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\u5fae\u7d30\u306b\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\u8cac\u4efb\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>\u6b20\u5931\u306e\u5927\u304d\u3055\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u7d0490%\u306e\u60a3\u8005\u3055\u3093\u306f\u300c3\u30e1\u30ac\u30d9\u30fc\u30b9\uff08300\u4e07\u5869\u57fa\u5bfe\uff09\u300d\u3068\u3044\u3046\u5178\u578b\u7684\u306a\u7bc4\u56f2\u306e\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u6b8b\u308a\u306e\u7d0410%\u306f\u3001\u3088\u308a\u5c0f\u3055\u30441.5\u30e1\u30ac\u30d9\u30fc\u30b9\u306a\u3069\u306e\u6b20\u5931\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u7d0430\u301c40\u500b\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u7279\u306b\u672c\u75be\u60a3\u306e\u75c7\u72b6\u5f62\u6210\u306b\u304a\u3044\u3066\u4e2d\u5fc3\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u306e\u304cTBX1\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>TBX1 (T-Box Transcription Factor 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u80ce\u5150\u671f\uff08\u598a\u5a20\u521d\u671f\uff09\u306b\u3001**\u300c\u54bd\u982d\u5f13\uff08\u3044\u3093\u3068\u3046\u304d\u3085\u3046\uff09\u300d**\u3068\u547c\u3070\u308c\u308b\u7d44\u7e54\u306e\u767a\u9054\u3092\u5236\u5fa1\u3059\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u54bd\u982d\u5f13\u306f\u3001\u5c06\u6765\u306e**\u9854\u9762\u3001\u53e3\u84cb\u3001\u80f8\u817a\u3001\u526f\u7532\u72b6\u817a\u3001\u5fc3\u81d3\u306e\u8840\u7ba1\uff08\u5927\u52d5\u8108\u5f13\u306a\u3069\uff09**\u306b\u306a\u308b\u5143\u3068\u306a\u308b\u7d44\u7e54\u3067\u3059\u3002<\/li>\n\n\n\n<li><em>TBX1<\/em>\u907a\u4f1d\u5b50\u306e\u91cf\u304c\u534a\u5206\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u3053\u308c\u3089\u306e\u5668\u5b98\u306e\u5f62\u6210\u4e0d\u5168\u304c\u8d77\u304d\u3001\u672c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\uff08\u5fc3\u75be\u60a3\u3001\u9854\u8c8c\u3001\u514d\u75ab\u4f4e\u4e0b\u306a\u3069\uff09\u306b\u3064\u306a\u304c\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>\u7d043,000\u4eba \u301c 6,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u4e2d\u3067\u306f\u3001\u4e16\u754c\u4e2d\u3067\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u3044\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u30c0\u30a6\u30f3\u75c7\u5019\u7fa4\u306a\u3069\u306e\u67d3\u8272\u4f53\u6570\u7570\u5e38\u3092\u542b\u3081\u3066\u3082\u3001\u6bd4\u8f03\u7684\u3088\u304f\u906d\u9047\u3059\u308b\u67d3\u8272\u4f53\u75be\u60a3\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u904e\u5c11\u8a3a\u65ad\uff08Underdiagnosis\uff09\u306e\u53ef\u80fd\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u91cd\u7be4\u306a\u5fc3\u75be\u60a3\u3092\u6301\u3064\u5834\u5408\u306f\u51fa\u751f\u76f4\u5f8c\u306b\u8a3a\u65ad\u3055\u308c\u307e\u3059\u304c\u3001\u5fc3\u75be\u60a3\u304c\u306a\u304f\u300c\u8a00\u8449\u304c\u5c11\u3057\u9045\u3044\u300d\u300c\u9f3b\u58f0\u3067\u3042\u308b\u300d\u3068\u3044\u3063\u305f\u8efd\u5ea6\u306e\u75c7\u72b6\u306e\u307f\u306e\u5834\u5408\u3001\u8a3a\u65ad\u3055\u308c\u306a\u3044\u307e\u307e\u6210\u4eba\u3055\u308c\u3066\u3044\u308b\u65b9\u3082\u76f8\u5f53\u6570\u5b58\u5728\u3059\u308b\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5b9f\u969b\u306e\u983b\u5ea6\u306f\u3055\u3089\u306b\u9ad8\u3044\uff081\/1,000\u301c1\/2,000\uff09\u3068\u3059\u308b\u7814\u7a76\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/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>22q11.2 deletion syndrome\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001**\u300c\u75c7\u72b6\u306e\u591a\u69d8\u6027\uff08\u591a\u5f69\u3055\uff09\u300d\u3068\u300c\u53ef\u5909\u8868\u73fe\u6027\uff08\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\uff09\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u540c\u3058\u5bb6\u65cf\u5185\u3067\u540c\u3058\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u89aa\u306f\u7121\u75c7\u72b6\uff08\u3042\u308b\u3044\u306f\u8efd\u5ea6\u306e\u9f3b\u58f0\u306e\u307f\uff09\u3067\u3001\u5b50\u306f\u91cd\u3044\u5fc3\u75be\u60a3\u3092\u6301\u3064\u3001\u3068\u3044\u3063\u305f\u3053\u3068\u304c\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u304b\u3064\u3066\u300cCATCH22\u300d**\u3068\u3044\u3046\u982d\u6587\u5b57\u3067\u899a\u3048\u3089\u308c\u3066\u3044\u305f\u3088\u3046\u306b\u3001\u591a\u81d3\u5668\u306b\u308f\u305f\u308b\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08Cardiac defects\uff09\uff1a\u7d0475\u301c80%<\/strong><\/p>\n\n\n\n<p>\u6700\u3082\u751f\u547d\u4e88\u5f8c\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u75c7\u72b6\u3067\u3059\u3002\u7279\u306b\u300c\u5186\u9310\u52d5\u8108\u5e79\u300d\u3068\u547c\u3070\u308c\u308b\u5fc3\u81d3\u306e\u51fa\u53e3\u90e8\u5206\u306e\u5f62\u6210\u7570\u5e38\u304c\u7279\u5fb4\u7684\u3067\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; TOF\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u7dcf\u52d5\u8108\u5e79\u75c7\uff08Truncus arteriosus\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u5927\u52d5\u8108\u5f13\u96e2\u65ad\u75c7\uff08Interrupted aortic arch type B\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09<\/strong><\/li>\n\n\n\n<li>\u3053\u308c\u3089\u306f\u65b0\u751f\u5150\u671f\u301c\u4e73\u5150\u671f\u306e\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u65e9\u671f\u767a\u898b\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Abnormal facies\uff09\uff1a\u7d0490%\u4ee5\u4e0a<\/strong><\/p>\n\n\n\n<p>\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u307e\u3059\u304c\u3001\u5171\u901a\u3057\u305f\u96f0\u56f2\u6c17\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7e26\u306b\u9577\u3044\u9854\uff08\u9762\u9577\uff09\u3002<\/li>\n\n\n\n<li>\u773c\u77bc\u88c2\u72ed\u5c0f\uff08\u76ee\u304c\u7d30\u3044\uff09\u3001\u773c\u9593\u958b\u96e2\u3002<\/li>\n\n\n\n<li>\u9f3b\u6839\u90e8\u304c\u592a\u304f\u3001\u9f3b\u5148\u304c\u56db\u89d2\u3044\uff08\u7403\u72b6\u306e\u9f3b\u5c16\uff09\u3002<\/li>\n\n\n\n<li>\u8033\u304c\u5c0f\u3055\u3044\u3001\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u4ecb\u306e\u5909\u5f62\u3002<\/li>\n\n\n\n<li>\u5c0f\u3055\u306a\u53e3\u3001\u8584\u3044\u4e0a\u5507\u3002<\/li>\n\n\n\n<li>\u203b\u305f\u3060\u3057\u3001\u3053\u308c\u3089\u306e\u7279\u5fb4\u306f\u975e\u5e38\u306b\u8efd\u5fae\u3067\u3001\u5c02\u9580\u533b\u3067\u306a\u3044\u3068\u6c17\u4ed8\u304b\u306a\u3044\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u80f8\u817a\u4f4e\u5f62\u6210\u30fb\u514d\u75ab\u4e0d\u5168\uff08Thymic hypoplasia\uff09\uff1a\u7d0460\u301c75%<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u80f8\u817a\u306f\u514d\u75ab\u7d30\u80de\uff08T\u7d30\u80de\uff09\u3092\u80b2\u3066\u308b\u5b66\u6821\u306e\u3088\u3046\u306a\u81d3\u5668\u3067\u3059\u304c\u3001\u3053\u308c\u304c\u751f\u307e\u308c\u3064\u304d\u5c0f\u3055\u3044\u3001\u3042\u308b\u3044\u306f\u6b20\u640d\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>T\u7d30\u80de\u6a5f\u80fd\u4e0d\u5168:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u5834\u5408\u306f\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u3067\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u6539\u5584\u3057\u307e\u3059\u304c\u3001\u98a8\u90aa\u3092\u3072\u304d\u3084\u3059\u3044\u3001\u4e2d\u8033\u708e\u3092\u7e70\u308a\u8fd4\u3059\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6975\u7a00\u306b\u91cd\u75c7\u8907\u5408\u514d\u75ab\u4e0d\u5168\uff08SCID\uff09\u306b\u8fd1\u3044\u72b6\u614b\u3068\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u3001\u305d\u306e\u969b\u306f\u751f\u30ef\u30af\u30c1\u30f3\u306e\u63a5\u7a2e\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u53e3\u84cb\u88c2\u30fb\u53e3\u84cb\u54bd\u982d\u6a5f\u80fd\u4e0d\u5168\uff08Cleft palate\uff09\uff1a\u7d0470%<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7c98\u819c\u4e0b\u53e3\u84cb\u88c2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8868\u9762\u306e\u7c98\u819c\u306f\u9589\u3058\u3066\u3044\u307e\u3059\u304c\u3001\u4e2d\u306e\u7b4b\u8089\u304c\u5272\u308c\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002\u898b\u305f\u76ee\u3067\u306f\u5206\u304b\u308a\u306b\u304f\u3044\u305f\u3081\u898b\u9003\u3055\u308c\u3084\u3059\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u53e3\u84cb\u54bd\u982d\u6a5f\u80fd\u4e0d\u5168\uff08VPI\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u53e3\u84cb\u88c2\u304c\u306a\u304f\u3066\u3082\u3001\u5589\u306e\u5965\u306e\u52d5\u304d\u304c\u60aa\u304f\u3001\u767a\u58f0\u6642\u306b\u9f3b\u304b\u3089\u7a7a\u6c17\u304c\u6f0f\u308c\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u5fb4\u7684\u306a**\u300c\u958b\u9f3b\u58f0\uff08\u30d5\u30ac\u30d5\u30ac\u3057\u305f\u58f0\uff09\u300d**\u3084\u3001\u30df\u30eb\u30af\u306e\u9f3b\u3078\u306e\u9006\u6d41\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u8a00\u8449\u306e\u767a\u9054\u306b\u5f71\u97ff\u3059\u308b\u305f\u3081\u3001\u65e9\u671f\u306e\u8a55\u4fa1\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\uff08Hypocalcemia\uff09\uff1a\u7d0450%<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30ab\u30eb\u30b7\u30a6\u30e0\u3092\u8abf\u6574\u3059\u308b\u526f\u7532\u72b6\u817a\u304c\u5c0f\u3055\u3044\u305f\u3081\u3001\u8840\u6db2\u4e2d\u306e\u30ab\u30eb\u30b7\u30a6\u30e0\u6fc3\u5ea6\u304c\u4e0b\u304c\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u75c7\u72b6:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u65b0\u751f\u5150\u671f\u306e\u3051\u3044\u308c\u3093\uff08\u30c6\u30bf\u30cb\u30fc\uff09\u3067\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u4e00\u6642\u7684\u306b\u6539\u5584\u3057\u3066\u3082\u3001\u601d\u6625\u671f\u3084\u598a\u5a20\u30fb\u51fa\u7523\u6642\u3001\u611f\u67d3\u75c7\u7f79\u60a3\u6642\u306a\u3069\u306e\u30b9\u30c8\u30ec\u30b9\u304c\u304b\u304b\u308b\u6642\u671f\u306b\u518d\u767a\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>6. \u767a\u9054\u30fb\u77e5\u80fd\u30fb\u5b66\u7fd2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u904b\u52d5\u767a\u9054\uff08\u6b69\u884c\u306a\u3069\uff09\u3084\u8a00\u8449\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u7279\u306b\u8a00\u8449\u306e\u9045\u308c\u306f\u3001\u53e3\u84cb\u306e\u554f\u984c\u3084\u96e3\u8074\u306e\u5f71\u97ff\u3082\u52a0\u308f\u308a\u9855\u8457\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306f\u3001\u5883\u754c\u57df\uff08IQ 70-84\uff09\u304b\u3089\u8efd\u5ea6\u77e5\u7684\u969c\u5bb3\uff08IQ 50-69\uff09\u306e\u7bc4\u56f2\u306b\u4f4d\u7f6e\u3057\u307e\u3059\u304c\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3067\u3059\u3002\u77e5\u80fd\u304c\u6b63\u5e38\u7bc4\u56f2\u306e\u65b9\u3082\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5b66\u7fd2\u7279\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b97\u6570\u3084\u62bd\u8c61\u7684\u306a\u6982\u5ff5\u306e\u7406\u89e3\u304c\u82e6\u624b\u306a\u4e00\u65b9\u3001\u8a18\u61b6\u529b\u3084\u8a00\u8a9e\u7684\u306a\u80fd\u529b\u306f\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\uff08Non-verbal learning disability\u306e\u50be\u5411\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>7. \u7cbe\u795e\u533b\u5b66\u7684\u7279\u5fb4\uff08\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9\uff09<\/strong><\/p>\n\n\n\n<p>\u601d\u6625\u671f\u4ee5\u964d\u3001\u7cbe\u795e\u75be\u60a3\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u672c\u75be\u60a3\u306e\u9577\u671f\u7ba1\u7406\u306b\u304a\u3051\u308b\u6700\u91cd\u8981\u8ab2\u984c\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7d71\u5408\u5931\u8abf\u75c7:<\/strong> \u4e00\u822c\u96c6\u56e3\u306b\u6bd4\u3079\u3066\u767a\u75c7\u30ea\u30b9\u30af\u304c\u9ad8\u3044\uff08\u7d0425%\u7a0b\u5ea6\uff09\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u30ea\u30b9\u30af:<\/strong> \u4e0d\u5b89\u969c\u5bb3\u3001\u3046\u3064\u75c5\u3001ADHD\u3001\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u306a\u3069\u306e\u5408\u4f75\u3082\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u203b\u300c\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u300d\u3068\u3044\u3046\u3060\u3051\u3067\u3001\u5168\u54e1\u304c\u767a\u75c7\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u65e9\u671f\u306e\u74b0\u5883\u8abf\u6574\u3084\u30b9\u30c8\u30ec\u30b9\u30b1\u30a2\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>8. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u814e\u30fb\u6ccc\u5c3f\u5668:<\/strong> \u814e\u6b20\u640d\u3001\u814e\u5947\u5f62\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c:<\/strong> \u5074\u5f2f\u75c7\u3001\u981a\u690e\u306e\u7570\u5e38\u3002<\/li>\n\n\n\n<li><strong>\u8033\u9f3b\u79d1:<\/strong> \u96e3\u8074\uff08\u4f1d\u97f3\u6027\u30fb\u611f\u97f3\u6027\uff09\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1:<\/strong> \u659c\u8996\u3001\u8840\u7ba1\u306e\u7570\u5e38\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>22\u756a\u67d3\u8272\u4f53\u9577\u8155\uff0822q11.2\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f\uff1aNAHR\uff08\u975e\u30a2\u30ea\u30eb\u9593\u540c\u6e90\u7d44\u63db\u3048\uff09<\/strong><\/p>\n\n\n\n<p>\u306a\u305c\u3001\u3053\u306e\u5834\u6240\u3070\u304b\u308a\u304c\u9ad8\u983b\u5ea6\u3067\u6b20\u5931\u3059\u308b\u306e\u3067\u3057\u3087\u3046\u304b\uff1f<\/p>\n\n\n\n<p>22q11.2\u9818\u57df\u306b\u306f\u3001**LCR\uff08Low Copy Repeats\uff09**\u3068\u547c\u3070\u308c\u308b\u3001DNA\u914d\u5217\u304c\u4e92\u3044\u306b\u3088\u304f\u4f3c\u305f\u30d6\u30ed\u30c3\u30af\u304c\u8907\u6570\u7b87\u6240\u306b\u914d\u7f6e\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6e1b\u6570\u5206\u88c2\u306e\u969b\u3001\u3053\u306eLCR\u540c\u58eb\u304c\u300c\u4f3c\u3066\u3044\u308b\u305f\u3081\u3001\u5834\u6240\u3092\u9593\u9055\u3048\u3066\u304f\u3063\u3064\u3044\u3066\u3057\u307e\u3046\uff08\u30df\u30b9\u30de\u30c3\u30c1\uff09\u300d\u3053\u3068\u304c\u8d77\u3053\u308a\u3084\u3059\u3044\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u7d50\u679c\u3001\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u30eb\u30fc\u30d7\u72b6\u306b\u306a\u3063\u3066\u629c\u3051\u843d\u3061\u3066\u3057\u307e\u3044\u3001\u6b20\u5931\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u69cb\u9020\u7684\u306a\u300c\u8106\u3055\u300d\u306b\u3088\u308b\u3082\u306e\u3067\u3042\u308a\u3001\u89aa\u306e\u751f\u6d3b\u7fd2\u6163\u3084\u598a\u5a20\u4e2d\u306e\u51fa\u6765\u4e8b\u306a\u3069\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5f62\u5f0f<\/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\u7d0490%<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u60a3\u8005\u3055\u3093\u306e\u5927\u591a\u6570\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4f4e\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u907a\u4f1d\uff09\uff1a\u7d0410%<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u540c\u3058\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u308b\u30b1\u30fc\u30b9\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u975e\u5e38\u306b\u8efd\u75c7\uff08\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\uff09\u3067\u3042\u308b\u5834\u5408\u3001\u5b50\u3069\u3082\u304c\u91cd\u75c7\u5316\u3057\u3066\u521d\u3081\u3066\u89aa\u3082\u691c\u67fb\u3092\u53d7\u3051\u3001\u5224\u660e\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u5b50\u306b\u907a\u4f1d\u3059\u308b\u78ba\u7387\u306f**50%\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>\u7279\u5fb4\u7684\u306a\u5fc3\u75be\u60a3\u3001\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u3001\u9854\u8c8c\u306a\u3069\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>FISH\u6cd5\uff08Fluorescence in situ hybridization\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>22q11.2\u9818\u57df\u306b\u7279\u7570\u7684\u306a\u86cd\u5149\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u3066\u3001\u6b20\u5931\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7c21\u4fbf\u3067\u8fc5\u901f\u306a\u305f\u3081\u3001\u7279\u5b9a\u306e\u81e8\u5e8a\u75c7\u72b6\uff08\u5fc3\u75be\u60a3\u306a\u3069\uff09\u304c\u3042\u308a\u3001\u3053\u306e\u75be\u60a3\u3092\u5f37\u304f\u7591\u3046\u5834\u5408\u306b\u6709\u7528\u3067\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:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30b2\u30ce\u30e0\u5168\u4f53\u3092\u7db2\u7f85\u7684\u306b\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5178\u578b\u7684\u306a\u6b20\u5931\u3060\u3051\u3067\u306a\u304f\u3001\u975e\u5178\u578b\u7684\u306a\u30b5\u30a4\u30ba\u306e\u6b20\u5931\uff08Atypical deletions\uff09\u3082\u691c\u51fa\u3067\u304d\u308b\u305f\u3081\u3001\u73fe\u5728\u306f\u7b2c\u4e00\u9078\u629e\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>MLPA\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30b3\u30d4\u30fc\u6570\u5909\u5316\u3092\u8abf\u3079\u308b\u5225\u306e\u65b9\u6cd5\u3067\u3001\u8a3a\u65ad\u306b\u7528\u3044\u3089\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\u591a\u81d3\u5668\u306b\u308f\u305f\u308b\u75c7\u72b6\u306b\u5bfe\u3057\u3001\u5404\u5c02\u9580\u79d1\u304c\u9023\u643a\u3057\u3066\u884c\u3046**\u300c\u30c8\u30fc\u30bf\u30eb\u30b1\u30a2\uff08\u5305\u62ec\u7684\u533b\u7642\uff09\u300d**\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u65b0\u751f\u5150\u671f\u301c\u4e73\u5150\u671f\uff1a\u751f\u547d\u3092\u5b88\u308b\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u81d3\u8840\u7ba1\u5916\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u306a\u3069\u306e\u5fc3\u75be\u60a3\u306b\u5bfe\u3057\u3001\u9069\u5207\u306a\u6642\u671f\u306b\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5185\u5206\u6ccc\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u306b\u5bfe\u3057\u3001\u30ab\u30eb\u30b7\u30a6\u30e0\u5264\u3084\u6d3b\u6027\u578b\u30d3\u30bf\u30df\u30f3D\u88fd\u5264\u306e\u88dc\u5145\u3092\u884c\u3044\u307e\u3059\u3002\u3051\u3044\u308c\u3093\u4e88\u9632\u306e\u305f\u3081\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u514d\u75ab\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6613\u611f\u67d3\u6027\u304c\u3042\u308b\u5834\u5408\u3001\u611f\u67d3\u4e88\u9632\u5bfe\u7b56\u3092\u884c\u3044\u307e\u3059\u3002\u91cd\u75c7\u4f8b\u3067\u306f\u80f8\u817a\u79fb\u690d\u306a\u3069\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u7a00\u3067\u3059\u3002\u751f\u30ef\u30af\u30c1\u30f3\u306e\u63a5\u7a2e\u53ef\u5426\u306b\u3064\u3044\u3066\u306f\u4e3b\u6cbb\u533b\u306e\u5224\u65ad\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5e7c\u5150\u671f\u301c\u5b66\u7ae5\u671f\uff1a\u6a5f\u80fd\u3068\u767a\u9054\u306e\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5f62\u6210\u5916\u79d1\u30fb\u8a00\u8a9e\u8074\u899a\u7642\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u53e3\u84cb\u88c2\u306e\u624b\u8853\u3084\u3001\u9f3b\u54bd\u8154\u9589\u9396\u4e0d\u5168\u306b\u5bfe\u3059\u308b\u30b9\u30d4\u30fc\u30c1\u30a8\u30a4\u30c9\uff08\u88c5\u5177\uff09\u3001\u8a00\u8a9e\u7642\u6cd5\u3092\u884c\u3044\u3001\u6b63\u3057\u3044\u767a\u97f3\u306e\u7372\u5f97\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u767a\u9054\u652f\u63f4\u30fb\u7642\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u901a\u3058\u3001\u904b\u52d5\u3084\u8a00\u8449\u306e\u767a\u9054\u3092\u4fc3\u3057\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>\u5b66\u7fd2\u306e\u82e6\u624b\u3055\u3084\u96c6\u56e3\u751f\u6d3b\u3067\u306e\u56f0\u308a\u611f\u306b\u5bfe\u3057\u3001\u7279\u5225\u652f\u63f4\u6559\u80b2\u3084\u901a\u7d1a\u6307\u5c0e\u306a\u3069\u306e\u74b0\u5883\u8abf\u6574\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u601d\u6625\u671f\u4ee5\u964d\uff1a\u81ea\u7acb\u3068\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7cbe\u795e\u79d1\u7684\u30fb\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e0d\u5b89\u3084\u6c17\u5206\u306e\u843d\u3061\u8fbc\u307f\u3001\u5e7b\u8074\u306a\u3069\u306e\u75c7\u72b6\u304c\u306a\u3044\u304b\u3001\u5b9a\u671f\u7684\u306b\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30b9\u30c8\u30ec\u30b9\u30de\u30cd\u30b8\u30e1\u30f3\u30c8\u3084\u3001\u81ea\u5df1\u80af\u5b9a\u611f\u3092\u80b2\u3080\u95a2\u308f\u308a\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u79fb\u884c\u671f\u533b\u7642:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u5150\u79d1\u304b\u3089\u6210\u4eba\u306e\u8a3a\u7642\u79d1\uff08\u5faa\u74b0\u5668\u5185\u79d1\u3001\u5185\u5206\u6ccc\u5185\u79d1\u3001\u7cbe\u795e\u79d1\u306a\u3069\uff09\u3078\u3001\u30b9\u30e0\u30fc\u30ba\u306b\u5f15\u304d\u7d99\u304e\u3092\u884c\u3044\u307e\u3059\u3002\u3054\u672c\u4eba\u304c\u81ea\u5206\u306e\u75c5\u6c17\u3092\u7406\u89e3\u3057\u3001\u7ba1\u7406\u3067\u304d\u308b\u3088\u3046\u306b\u30b5\u30dd\u30fc\u30c8\u3057\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>\u6b21\u5b50\u306e\u8a08\u753b\u3084\u3001\u304d\u3087\u3046\u3060\u3044\u306e\u30ea\u30b9\u30af\u3001\u3054\u672c\u4eba\u304c\u5c06\u6765\u5b50\u3069\u3082\u3092\u6301\u3064\u969b\u306e\u30ea\u30b9\u30af\u306a\u3069\u306b\u3064\u3044\u3066\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u76f8\u8ac7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u672a\u8a3a\u65ad\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u53ef\u80fd\u6027\u3082\u8003\u616e\u3057\u3001\u5bb6\u65cf\u5168\u4f53\u306e\u691c\u67fb\u3084\u30b5\u30dd\u30fc\u30c8\u306b\u3064\u3044\u3066\u8a71\u3057\u5408\u3044\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>22q11.2 deletion syndrome\u306f\u3001\u67d3\u8272\u4f53\u5fae\u7d30\u6b20\u5931\u306e\u4e2d\u3067\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u3044\u75be\u60a3\u3067\u3042\u308a\u3001\u305d\u306e\u75c7\u72b6\u306f\u4e00\u4eba\u3072\u3068\u308a\u5168\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u5fc3\u81d3\u306e\u624b\u8853\u304c\u5fc5\u8981\u3060\u3063\u305f\u3051\u308c\u3069\u3001\u4eca\u306f\u5143\u6c17\u306b\u5b66\u6821\u306b\u901a\u3063\u3066\u3044\u308b\u300d\u3068\u3044\u3046\u5b50\u3082\u3044\u308c\u3070\u3001\u300c\u5fc3\u81d3\u306f\u4e08\u592b\u3060\u3051\u308c\u3069\u3001\u8a00\u8449\u306e\u7df4\u7fd2\u3092\u9811\u5f35\u3063\u3066\u3044\u308b\u300d\u3068\u3044\u3046\u5b50\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u7ba1\u7406\u306b\u304a\u3044\u3066\u5927\u5207\u306a\u306e\u306f\u3001**\u300c\u5c06\u6765\u8d77\u3053\u308a\u3046\u308b\u30ea\u30b9\u30af\u3092\u3042\u3089\u304b\u3058\u3081\u77e5\u3063\u3066\u304a\u304f\u3053\u3068\uff08Anticipatory guidance\uff09\u300d**\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4f8b\u3048\u3070\u3001\u30ab\u30eb\u30b7\u30a6\u30e0\u304c\u4e0b\u304c\u308a\u3084\u3059\u3044\u3053\u3068\u3084\u3001\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9\u306e\u4e0d\u8abf\u304c\u51fa\u3084\u3059\u3044\u3053\u3068\u306a\u3069\u3092\u4e8b\u524d\u306b\u77e5\u3063\u3066\u3044\u308c\u3070\u3001\u4f55\u304b\u3042\u3063\u305f\u6642\u306b\u3059\u3050\u306b\u6c17\u3065\u304d\u3001\u65e9\u671f\u306b\u5bfe\u5fdc\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u7642\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u5fc3\u81d3\u75c5\u306a\u3069\u306e\u8eab\u4f53\u7684\u306a\u554f\u984c\u306f\u591a\u304f\u306e\u5834\u5408\u4e57\u308a\u8d8a\u3048\u3089\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3057\u305f\u3002\u73fe\u5728\u306f\u3001\u9577\u671f\u7684\u306aQOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u306e\u5411\u4e0a\u3001\u7279\u306b\u793e\u4f1a\u7684\u306a\u81ea\u7acb\u3084\u5fc3\u306e\u5065\u5eb7\u3078\u306e\u30b5\u30dd\u30fc\u30c8\u306b\u91cd\u70b9\u304c\u7f6e\u304b\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u3060\u3051\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u533b\u5e2b\u3001\u770b\u8b77\u5e2b\u3001\u7642\u6cd5\u58eb\u3001\u5fc3\u7406\u58eb\u3001\u305d\u3057\u3066\u60a3\u8005\u4f1a\u306a\u3069\u306e\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u3068\u3064\u306a\u304c\u308a\u3001\u9577\u3044\u76ee\u3067\u898b\u3066\u304a\u5b50\u3055\u3093\u306e\u6210\u9577\u3092\u652f\u3048\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\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>McDonald-McGinn, D.M., 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\u306e\u4e16\u754c\u7684\u6a29\u5a01\u306b\u3088\u308b\u5305\u62ec\u7684\u306a\u30ec\u30d3\u30e5\u30fc\u8ad6\u6587\u3002\u8a3a\u65ad\u3001\u7ba1\u7406\u3001\u5404\u81d3\u5668\u306e\u75c7\u72b6\u3001\u907a\u4f1d\u5b66\u7684\u30e1\u30ab\u30cb\u30ba\u30e0\u304b\u3089\u6700\u65b0\u306e\u6cbb\u7642\u6307\u91dd\u307e\u3067\u7db2\u7f85\u3055\u308c\u305f\u3001\u6700\u3082\u4fe1\u983c\u6027\u306e\u9ad8\u3044\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Bassett, A.S., et al.<\/strong> (2011). <em>Practical guidelines for managing adults with 22q11.2 deletion syndrome.<\/em> Genetics in Medicine.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u6210\u4eba\u671f\u306e\u60a3\u8005\u7ba1\u7406\u306b\u7279\u5316\u3057\u305f\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002\u7cbe\u795e\u75be\u60a3\u30ea\u30b9\u30af\u3084\u30ab\u30eb\u30b7\u30a6\u30e0\u4ee3\u8b1d\u7570\u5e38\u306e\u9577\u671f\u7ba1\u7406\u306b\u3064\u3044\u3066\u8a73\u7d30\u306b\u8a18\u8f09\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Morrow, B.E., et al.<\/strong> (2018). <em>Velocardiofacial syndrome \/ DiGeorge syndrome: 22q11.2 deletion syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u75be\u60a3\u306e\u6b74\u53f2\u7684\u80cc\u666f\u3068\u907a\u4f1d\u5b66\u7684\u7d71\u5408\u306e\u7d4c\u7def\u3001TBX1\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u306b\u95a2\u3059\u308b\u89e3\u8aac\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Habel, A., et al.<\/strong> (2014). <em>Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times.<\/em> European Journal of Pediatrics.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u6b27\u5dde\u306b\u304a\u3051\u308b\u7ba1\u7406\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002\u30e9\u30a4\u30d5\u30b9\u30c6\u30fc\u30b8\u3054\u3068\u306e\u30c1\u30a7\u30c3\u30af\u30ea\u30b9\u30c8\u304c\u6709\u7528\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>22q11.2 Deletion Syndrome<\/em>. Initial Posting: September 23, 1999; Last Update: February 27, 2020. <em>Authors: McDonald-McGinn DM, et al.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u81e8\u5e8a\u73fe\u5834\u3067\u6700\u3082\u53c2\u7167\u3055\u308c\u308b\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u306a\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>22q11.2 deletion syndrome<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u5e73\u6613\u306a\u8a00\u8449\u3067\u5305\u62ec\u7684\u306b\u89e3\u8aac\u3055\u308c\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\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-16927","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\/16927","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\/16927\/revisions"}],"predecessor-version":[{"id":16929,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16927\/revisions\/16929"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16927"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}