{"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":"2026-07-18T09:57:39","modified_gmt":"2026-07-18T09:57:39","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":"\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\uff0822q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff09\u3068\u306f\uff5c\u75c7\u72b6\u30fb\u539f\u56e0\u3092\u89e3\u8aac"},"content":{"rendered":"\n<div style=\"border:2px solid #4a90a4;border-radius:8px;padding:20px 24px;margin:0 0 32px;background:#f0f7f9;\">\n<p style=\"font-weight:700;font-size:1.1em;margin:0 0 12px;color:#2c6e7f;\">\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin:0;padding-left:1.2em;line-height:1.9;\">\n<li>\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u306822q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u3001CATCH22\u306e\u95a2\u4fc2<\/li>\n<li>\u5148\u5929\u6027\u5fc3\u75be\u60a3\u30fb\u514d\u75ab\u306e\u5f31\u3055\u30fb\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u306a\u3069\u4e3b\u306a\u75c7\u72b6\u3068\u7279\u5fb4<\/li>\n<li>22q11.2\u306e\u5fae\u5c0f\u6b20\u5931\u3068TBX1\u907a\u4f1d\u5b50\u304c\u95a2\u308f\u308b\u3001\u767a\u75c7\u306e\u3057\u304f\u307f<\/li>\n<li>FISH\u6cd5\u3084\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\u306b\u3088\u308b\u8a3a\u65ad\u306e\u6d41\u308c<\/li>\n<li>\u30c1\u30fc\u30e0\u533b\u7642\u306b\u3088\u308b\u6cbb\u7642\u30fb\u652f\u63f4\u3068\u3001\u5bb6\u65cf\u304c\u65e5\u3005\u5927\u5207\u306b\u3057\u305f\u3044\u3053\u3068<\/li>\n<\/ul>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\uff0822q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff09\u3068\u306f<\/h2>\n\n\n\n<p><strong>\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u306f\u300122\u756a\u67d3\u8272\u4f53q11.2\u9818\u57df\u306e\u308f\u305a\u304b\u306a\u6b20\u5931\u306b\u3088\u3063\u3066\u3001\u5fc3\u81d3\u30fb\u514d\u75ab\u30fb\u5185\u5206\u6ccc\u306a\u3069\u5168\u8eab\u306b\u75c7\u72b6\u304c\u3042\u3089\u308f\u308c\u308b\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002<\/strong>\u65e5\u672c\u3067\u306f\u300c22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u540d\u79f0\u3067<strong>\u6307\u5b9a\u96e3\u75c5203<\/strong>\u306b\u5b9a\u3081\u3089\u308c\u3001\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u306e\u5bfe\u8c61\u306b\u3082\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u540c\u3058\u75c5\u6c17\u304c\u3001\u6642\u4ee3\u3084\u7740\u76ee\u3059\u308b\u75c7\u72b6\u306b\u3088\u3063\u3066\u8907\u6570\u306e\u540d\u524d\u3067\u547c\u3070\u308c\u3066\u304d\u307e\u3057\u305f\u3002\u4eca\u306f\u300c22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u304c\u5305\u62ec\u7684\u306a\u540d\u79f0\u3068\u3057\u3066\u4f7f\u308f\u308c\u307e\u3059\u3002\u305d\u308c\u305e\u308c\u306e\u547c\u3073\u65b9\u304c\u4f55\u3092\u6307\u3059\u306e\u304b\u3001\u307e\u305a\u6574\u7406\u3057\u3066\u307f\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u540d\u79f0<\/th><th>\u4e3b\u306b\u6307\u3059\u75c5\u614b<\/th><\/tr><\/thead><tbody>\n<tr><td>22q11.2\u6b20\u5931\u75c7\u5019\u7fa4<\/td><td>\u73fe\u5728\u3082\u3063\u3068\u3082\u4e00\u822c\u7684\u306b\u4f7f\u308f\u308c\u308b\u5305\u62ec\u7684\u306a\u540d\u79f0<\/td><\/tr>\n<tr><td>\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\uff08DGS\uff09<\/td><td>\u514d\u75ab\u4e0d\u5168\u30fb\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u30fb\u5148\u5929\u6027\u5fc3\u75be\u60a3\u304c\u4e2d\u5fc3\u306e\u547c\u79f0<\/td><\/tr>\n<tr><td>\u53e3\u84cb\u5fc3\u81d3\u9854\u9762\u75c7\u5019\u7fa4\uff08VCFS\uff09<\/td><td>\u53e3\u84cb\u88c2\u30fb\u5fc3\u75be\u60a3\u30fb\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u30fb\u5b66\u7fd2\u9762\u306e\u8ab2\u984c\u304c\u4e2d\u5fc3\u306e\u547c\u79f0<\/td><\/tr>\n<tr><td>\u5186\u9310\u52d5\u8108\u5e79\u7570\u5e38\u9854\u8c8c\u75c7\u5019\u7fa4\uff08CAFS\uff09<\/td><td>\u5fc3\u81d3\u6d41\u51fa\u8def\u306e\u5947\u5f62\u3068\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u304c\u4e2d\u5fc3\u306e\u547c\u79f0<\/td><\/tr>\n<tr><td>CATCH22<\/td><td>\u4e3b\u306a\u75c7\u72b6\u306e\u982d\u6587\u5b57\u3092\u3068\u3063\u305f\u547c\u3073\u540d<\/td><\/tr>\n<\/tbody><\/table><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\">CATCH22\u3068\u3044\u3046\u547c\u3073\u540d\u306e\u7531\u6765<\/h3>\n\n\n\n<p>CATCH22\u306f\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306e\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u3092\u82f1\u8a9e\u306e\u982d\u6587\u5b57\u3067\u4e26\u3079\u305f\u7565\u8a9e\u3067\u3059\u3002\u8a9e\u5442\u5408\u308f\u305b\u306e\u3088\u3046\u3067\u3044\u3066\u3001\u62bc\u3055\u3048\u308b\u3079\u304d\u30dd\u30a4\u30f3\u30c8\u304c\u3072\u3068\u76ee\u3067\u308f\u304b\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u6587\u5b57<\/th><th>\u610f\u5473<\/th><\/tr><\/thead><tbody>\n<tr><td>C<\/td><td>Cardiac defects\uff08\u5fc3\u75be\u60a3\uff09<\/td><\/tr>\n<tr><td>A<\/td><td>Abnormal facies\uff08\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff09<\/td><\/tr>\n<tr><td>T<\/td><td>Thymic hypoplasia\uff08\u80f8\u817a\u4f4e\u5f62\u6210\u306b\u3088\u308b\u514d\u75ab\u306e\u5f31\u3055\uff09<\/td><\/tr>\n<tr><td>C<\/td><td>Cleft palate\uff08\u53e3\u84cb\u88c2\uff09<\/td><\/tr>\n<tr><td>H<\/td><td>Hypocalcemia\uff08\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\uff09<\/td><\/tr>\n<tr><td>22<\/td><td>22\u756a\u67d3\u8272\u4f53\u306e\u7570\u5e38<\/td><\/tr>\n<\/tbody><\/table><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\">\u6b20\u5931\u304c\u8d77\u3053\u308b\u67d3\u8272\u4f53\u306e\u5834\u6240<\/h3>\n\n\n\n<p>\u539f\u56e0\u3068\u306a\u308b\u306e\u306f\u300122\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\uff09\u306b\u3042\u308b\u300c11.2\u300d\u3068\u3044\u3046\u3054\u304f\u9650\u3089\u308c\u305f\u9818\u57df\u3067\u3059\u3002\u3053\u306e\u5834\u6240\u3067\u30b3\u30d4\u30fc\u6570\u304c\u901a\u5e38\u306e2\u672c\u304b\u30891\u672c\u306b\u6e1b\u308b\u3001\u3064\u307e\u308a\u5fae\u5c0f\u306a\u6b20\u5931\u304c\u751f\u3058\u307e\u3059\u3002\u6b20\u5931\u3059\u308b\u7bc4\u56f2\u306f\u304a\u3088\u305d1.5\u301c3\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u3002\u901a\u5e38\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u5206\u67d3\u6cd5\uff09\u3067\u306f\u898b\u3064\u3051\u306b\u304f\u3044\u307b\u3069\u5c0f\u3055\u3044\u305f\u3081\u300c\u5fae\u5c0f\u6b20\u5931\u300d\u3068\u547c\u3070\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u540c\u305822q11.2\u9818\u57df\u3067\u306f\u3001\u6b20\u5931\u3060\u3051\u3067\u306a\u304f\u30b3\u30d4\u30fc\u6570\u304c\u5897\u3048\u308b\u5909\u5316\u3082\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u8a73\u3057\u304f\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/22q11-2-duplication-syndrome-proximal-a-d\/\">22q11.2\u91cd\u8907\u75c7\u5019\u7fa4\uff08\u8fd1\u4f4d\u3001A-D\uff09<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/22q11-2-duplication-distal-syndrome\/\">22q11.2\u91cd\u8907\uff08\u9060\u4f4d\uff09\u75c7\u5019\u7fa4<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002\u6b20\u5931\u306e\u306a\u304b\u306b\u3082<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/22q11-2-deletion-syndrome-distal-d-e-f\/\">\u9060\u4f4d\u578b\u306e\u6b20\u5931\uff08distal, D-E\/F\uff09<\/a>\u306a\u3069\u8907\u6570\u306e\u30bf\u30a4\u30d7\u304c\u3042\u308a\u3001\u67d3\u8272\u4f53\u30ec\u30d9\u30eb\u306e\u5206\u985e\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/22q11-2-deletion-syndrome\/\">22q11.2\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u306e\u89e3\u8aac\u3067\u3082\u8a73\u3057\u304f\u6271\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u751f\u307e\u308c\u308b\u306e\u304b<\/h3>\n\n\n\n<p>\u767a\u751f\u983b\u5ea6\u306f<strong>\u7d044,000\u301c6,000\u4eba\u306b1\u4eba<\/strong>\u3068\u3055\u308c\u3001\u5148\u5929\u6027\u75be\u60a3\u306e\u306a\u304b\u3067\u306f\u6bd4\u8f03\u7684\u591a\u3044\u30b0\u30eb\u30fc\u30d7\u306b\u5165\u308a\u307e\u3059\u3002\u30c0\u30a6\u30f3\u75c7\u5019\u7fa4\u306b\u6b21\u3044\u3067\u591a\u3044\u67d3\u8272\u4f53\u306e\u5909\u5316\u306e\u3072\u3068\u3064\u3067\u3059\u3002\u4eba\u7a2e\u3084\u6027\u5225\u306b\u3088\u308b\u5dee\u306f\u306a\u304f\u3001\u4e16\u754c\u4e2d\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u306f\u8a3a\u65ad\u6280\u8853\u304c\u9032\u307f\u3001\u75c7\u72b6\u306e\u8efd\u3044\u65b9\u3082\u898b\u3064\u304b\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3057\u305f\u3002\u5b9f\u969b\u306b\u306f\u3082\u3063\u3068\u591a\u304f\u30012,000\u301c3,000\u4eba\u306b1\u4eba\u307b\u3069\u5b58\u5728\u3059\u308b\u306e\u3067\u306f\u306a\u3044\u304b\u3068\u3044\u3046\u63a8\u8a08\u3082\u3042\u308a\u307e\u3059\u3002\u898b\u904e\u3054\u3055\u308c\u3066\u3044\u308b\u8efd\u75c7\u4f8b\u304c\u5c11\u306a\u304f\u306a\u3044\u75be\u60a3\u3002\u305d\u3046\u8003\u3048\u3066\u304a\u304f\u3068\u7406\u89e3\u3057\u3084\u3059\u3044\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u306e\u4e3b\u306a\u75c7\u72b6\u3068\u7279\u5fb4<\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1344\" height=\"768\" src=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17284-h2-1.jpg\" alt=\"\u7720\u308b\u4e73\u5150\u306b\u305d\u3063\u3068\u624b\u3092\u6dfb\u3048\u308b\u4fdd\u8b77\u8005\u3068\u6de1\u3044\u30cf\u30fc\u30c8\u306e\u30a4\u30e9\u30b9\u30c8\" class=\"wp-image-17825\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17284-h2-1.jpg 1344w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17284-h2-1-300x171.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17284-h2-1-1024x585.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17284-h2-1-768x439.jpg 768w\" sizes=\"(max-width: 1344px) 100vw, 1344px\" \/><\/figure><\/div>\n\n\n<p><strong>\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u306f\u5168\u8eab\u306b\u5f71\u97ff\u3059\u308b\u591a\u7cfb\u7d71\u75be\u60a3\u3067\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u30fb\u514d\u75ab\u306e\u5f31\u3055\u30fb\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u3092\u4e2d\u5fc3\u306b\u3001\u75c7\u72b6\u306e\u7a2e\u985e\u3068\u91cd\u3055\u306b\u306f\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/strong><strong>\u3059\u3079\u3066\u306e\u75c7\u72b6\u304c\u4e00\u4eba\u306b\u305d\u308d\u3046\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u3053\u3053\u304c\u7406\u89e3\u306e\u3044\u3061\u3070\u3093\u5927\u5207\u306a\u3068\u3053\u308d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305a\u306f\u5168\u4f53\u50cf\u3092\u3001\u7cfb\u7d71\u3054\u3068\u306b\u304a\u304a\u3088\u305d\u306e\u983b\u5ea6\u3068\u3042\u308f\u305b\u3066\u4e00\u89a7\u306b\u307e\u3068\u3081\u307e\u3059\u3002\u305d\u306e\u3046\u3048\u3067\u3001\u7279\u306b\u6ce8\u610f\u3057\u305f\u3044\u9818\u57df\u3092\u9806\u756a\u306b\u898b\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u7cfb\u7d71<\/th><th>\u304a\u304a\u3088\u305d\u306e\u983b\u5ea6<\/th><th>\u4e3b\u306a\u75c7\u72b6<\/th><\/tr><\/thead><tbody>\n<tr><td>\u5148\u5929\u6027\u5fc3\u75be\u60a3<\/td><td>\u7d0475\u301c80%<\/td><td>\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u3001\u96e2\u65ad\u578b\u5927\u52d5\u8108\u5f13\u3001\u7dcf\u52d5\u8108\u5e79\u75c7\u3001\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7<\/td><\/tr>\n<tr><td>\u514d\u75ab\u7cfb\u306e\u5f31\u3055<\/td><td>\u7d0475%<\/td><td>\u80f8\u817a\u4f4e\u5f62\u6210\u306b\u3088\u308bT\u7d30\u80de\u6e1b\u5c11\u3001\u611f\u67d3\u75c7\u306e\u304b\u304b\u308a\u3084\u3059\u3055<\/td><\/tr>\n<tr><td>\u5185\u5206\u6ccc\u7cfb\u306e\u7570\u5e38<\/td><td>\u7d0450%<\/td><td>\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u3001\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7<\/td><\/tr>\n<tr><td>\u53e3\u84cb\u30fb\u69cb\u97f3\u306e\u7570\u5e38<\/td><td>\u7d0470\u301c80%<\/td><td>\u7c98\u819c\u4e0b\u53e3\u84cb\u88c2\u3001\u9f3b\u54bd\u8154\u9589\u9396\u4e0d\u5168\u3001\u9f3b\u306b\u629c\u3051\u308b\u58f0\uff08\u958b\u9f3b\u58f0\uff09<\/td><\/tr>\n<tr><td>\u795e\u7d4c\u767a\u9054\u30fb\u7cbe\u795e\u9762<\/td><td>\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044<\/td><td>\u767a\u9054\u306e\u9045\u308c\u3001\u5b66\u7fd2\u9762\u306e\u8ab2\u984c\u3001\u601d\u6625\u671f\u4ee5\u964d\u306e\u7cbe\u795e\u75c7\u72b6<\/td><\/tr>\n<tr><td>\u814e\u30fb\u9aa8\u683c\u30fb\u8074\u899a\u306a\u3069<\/td><td>\u7d0430%\u301c<\/td><td>\u814e\u5947\u5f62\u3001\u5074\u5f2f\u75c7\u3001\u4e2d\u8033\u708e\u306b\u3088\u308b\u96e3\u8074<\/td><\/tr>\n<\/tbody><\/table><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\">\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08\u7d0475\u301c80%\uff09<\/h3>\n\n\n\n<p>\u3082\u3063\u3068\u3082\u91cd\u304f\u306a\u308a\u3084\u3059\u304f\u3001\u65e9\u3044\u5bfe\u5fdc\u304c\u5fc5\u8981\u306b\u306a\u308b\u75c7\u72b6\u3067\u3059\u3002\u7279\u306b\u5fc3\u81d3\u306e\u51fa\u53e3\u306b\u3042\u305f\u308b\u300c\u5fc3\u81d3\u6d41\u51fa\u8def\u300d\u306e\u7570\u5e38\u304c\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u751f\u307e\u308c\u3066\u3059\u3050\u306e\u6642\u671f\u306b\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u6b21\u306e\u3088\u3046\u306a\u75c5\u6c17\u304c\u4ee3\u8868\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7<\/li>\n<li>\u96e2\u65ad\u578b\u5927\u52d5\u8108\u5f13<\/li>\n<li>\u7dcf\u52d5\u8108\u5e79\u75c7<\/li>\n<li>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u514d\u75ab\u7cfb\u306e\u5f31\u3055\uff08\u7d0475%\uff09<\/h3>\n\n\n\n<p>\u5fc3\u81d3\u306e\u8fd1\u304f\u306b\u3042\u308b\u300c\u80f8\u817a\u300d\u304c\u5341\u5206\u306b\u80b2\u305f\u306a\u3044\u3068\u3001\u30a6\u30a4\u30eb\u30b9\u3084\u7d30\u83cc\u3068\u6226\u3046\u300cT\u7d30\u80de\u300d\u306e\u6570\u304c\u6e1b\u308a\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u4e73\u5e7c\u5150\u671f\u306b\u80ba\u708e\u30fb\u4e2d\u8033\u708e\u30fb\u526f\u9f3b\u8154\u708e\u306a\u3069\u3092\u7e70\u308a\u8fd4\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002\u514d\u75ab\u306e\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\u306a\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u305f\u3061\u3082\u76f8\u8ac7\u306e\u5834\u3067\u300c\u3046\u3061\u306e\u5b50\u306f\u611f\u67d3\u3070\u304b\u308a\u3067\u5927\u4e08\u592b\u3067\u3057\u3087\u3046\u304b\u300d\u3068\u5c0b\u306d\u3089\u308c\u308b\u3053\u3068\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u305f\u3060\u3001\u60b2\u89b3\u3057\u3059\u304e\u308b\u5fc5\u8981\u306f\u306a\u3044\u3068\u304a\u4f1d\u3048\u3057\u3066\u3044\u307e\u3059\u3002\u6210\u9577\u306b\u3068\u3082\u306a\u3063\u3066\u80f8\u817a\u4ee5\u5916\u306e\u5834\u6240\u3067\u3082T\u7d30\u80de\u304c\u4f5c\u3089\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u3001\u514d\u75ab\u306e\u50cd\u304d\u304c\u6539\u5584\u3057\u3066\u3044\u304f\u304a\u5b50\u3055\u3093\u3082\u591a\u304f\u3044\u308b\u304b\u3089\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u5185\u5206\u6ccc\u7cfb\u306e\u7570\u5e38\uff08\u7d0450%\uff09<\/h3>\n\n\n\n<p>\u526f\u7532\u72b6\u817a\u306e\u50cd\u304d\u304c\u5f31\u3044\u3068\u3001\u8840\u6db2\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\u7279\u306b\u65b0\u751f\u5150\u671f\u306b\u306f\u3001\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u304b\u3089\u3051\u3044\u308c\u3093\uff08\u30c6\u30bf\u30cb\u30fc\uff09\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3044\u3063\u305f\u3093\u843d\u3061\u7740\u3044\u3066\u3082\u3001\u5f37\u3044\u30b9\u30c8\u30ec\u30b9\u3084\u624b\u8853\u306e\u3068\u304d\u306b\u4e00\u6642\u7684\u306b\u3076\u308a\u8fd4\u3059\u5834\u5408\u304c\u3042\u308b\u305f\u3081\u3001\u9577\u3044\u76ee\u3067\u306e\u78ba\u8a8d\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u53e3\u84cb\u30fb\u69cb\u97f3\u306e\u7570\u5e38\uff08\u7d0470\u301c80%\uff09<\/h3>\n\n\n\n<p>\u53e3\u306e\u5965\uff08\u8edf\u53e3\u84cb\uff09\u306e\u69cb\u9020\u3084\u52d5\u304d\u306b\u554f\u984c\u304c\u751f\u3058\u3001\u8a71\u3057\u65b9\u3084\u98f2\u307f\u8fbc\u307f\u306b\u5f71\u97ff\u3057\u307e\u3059\u3002\u898b\u305f\u76ee\u306b\u306f\u7a74\u304c\u958b\u3044\u3066\u3044\u306a\u304f\u3066\u3082\u7b4b\u8089\u304c\u3064\u306a\u304c\u3063\u3066\u3044\u306a\u3044\u300c\u7c98\u819c\u4e0b\u53e3\u84cb\u88c2\u300d\u3001\u8a71\u3059\u3068\u304d\u306b\u7a7a\u6c17\u304c\u9f3b\u3078\u629c\u3051\u3066\u9f3b\u58f0\u306b\u306a\u308b\u300c\u9f3b\u54bd\u8154\u9589\u9396\u4e0d\u5168\u300d\u306a\u3069\u304c\u4ee3\u8868\u7684\u3067\u3059\u3002\u8d64\u3061\u3083\u3093\u306e\u6642\u671f\u306b\u306f\u3001\u30df\u30eb\u30af\u304c\u9f3b\u304b\u3089\u51fa\u3084\u3059\u3044\u3001\u98f2\u307f\u8fbc\u307f\u306b\u304f\u3044\u3068\u3044\u3063\u305f\u30b5\u30a4\u30f3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u7279\u5fb4\u7684\u306a\u9854\u8c8c<\/h3>\n\n\n\n<p>\u9854\u3064\u304d\u306e\u7279\u5fb4\u306f\u63a7\u3048\u3081\u306a\u3053\u3068\u304c\u591a\u3044\u3082\u306e\u306e\u3001\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u3068\u3057\u3066\u533b\u5b66\u7684\u306b\u306f\u91cd\u8996\u3055\u308c\u307e\u3059\u3002\u9f3b\u306e\u4ed8\u3051\u6839\u304c\u5e83\u304f\u9f3b\u5148\u304c\u4e38\u3044\u3001\u76ee\u3082\u3068\u306e\u5370\u8c61\u3001\u8033\u306e\u4f4d\u7f6e\u304c\u3084\u3084\u4f4e\u3044\u3001\u3042\u3054\u304c\u5c0f\u3055\u3044\u3001\u3068\u3044\u3063\u305f\u70b9\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3042\u304f\u307e\u3067\u624b\u304c\u304b\u308a\u306e\u4e00\u3064\u3067\u3042\u308a\u3001\u3053\u308c\u3060\u3051\u3067\u8a3a\u65ad\u304c\u6c7a\u307e\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u795e\u7d4c\u767a\u9054\u3068\u7cbe\u795e\u9762\u306e\u7279\u5fb4<\/h3>\n\n\n\n<p>\u6210\u9577\u3068\u3068\u3082\u306b\u5411\u304d\u5408\u3063\u3066\u3044\u304f\u8ab2\u984c\u3068\u3057\u3066\u3001\u8fd1\u5e74\u3068\u3066\u3082\u91cd\u8996\u3055\u308c\u3066\u3044\u308b\u9818\u57df\u3067\u3059\u3002\u767a\u9054\u306e\u9045\u308c\u3084\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u306a\u8ab2\u984c\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u4e00\u65b9\u3001\u6b63\u5e38\u77e5\u80fd\u306e\u7bc4\u56f2\u306b\u3042\u308b\u65b9\u3082\u3044\u307e\u3059\u3002\u7b97\u6570\u3084\u62bd\u8c61\u7684\u306a\u7406\u89e3\u306f\u82e6\u624b\u3067\u3082\u3001\u8aad\u307f\u66f8\u304d\u3084\u8a18\u61b6\u304c\u5f97\u610f\u3068\u3044\u3063\u305f\u51f8\u51f9\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8a9e\u9762\u3067\u306f\u3001\u767a\u97f3\u306e\u96e3\u3057\u3055\u3068\u8a00\u8449\u306e\u7372\u5f97\u306e\u9045\u308c\u304c\u91cd\u306a\u308a\u3084\u3059\u3044\u50be\u5411\u3002\u601d\u6625\u671f\u4ee5\u964d\u306b\u306f\u3001\u6ce8\u610f\u6b20\u5982\u30fb\u591a\u52d5\u75c7\uff08ADHD\uff09\u3084\u4e0d\u5b89\u75c7\u306a\u3069\u304c\u307f\u3089\u308c\u3001\u7d0425\u301c30%\u306e\u5272\u5408\u3067\u7d71\u5408\u5931\u8abf\u75c7\u306b\u4f3c\u305f\u75c7\u72b6\u3092\u7d4c\u9a13\u3059\u308b\u30ea\u30b9\u30af\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u65e9\u3081\u306b\u6c17\u3065\u3044\u3066\u652f\u3048\u308b\u3053\u3068\u304c\u3001\u305d\u306e\u5f8c\u306e\u751f\u6d3b\u3092\u5927\u304d\u304f\u5de6\u53f3\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u305d\u306e\u4ed6\u306e\u75c7\u72b6<\/h3>\n\n\n\n<p>\u3053\u3053\u307e\u3067\u6319\u3052\u305f\u4ee5\u5916\u306b\u3082\u3001\u7247\u65b9\u306e\u814e\u81d3\u304c\u306a\u3044\u3001\u307e\u305f\u306f\u591a\u56a2\u80de\u6027\u7570\u5f62\u6210\u814e\u306a\u3069\u306e\u814e\u5947\u5f62\u304c\u7d0430%\u306b\u898b\u3089\u308c\u307e\u3059\u3002\u80cc\u9aa8\u304c\u66f2\u304c\u308b\u5074\u5f2f\u75c7\u3084\u624b\u6307\u304c\u7d30\u9577\u3044\u3068\u3044\u3063\u305f\u9aa8\u683c\u306e\u7279\u5fb4\u3001\u6ef2\u51fa\u6027\u4e2d\u8033\u708e\u3092\u7e70\u308a\u8fd4\u3059\u3053\u3068\u306b\u3088\u308b\u4f1d\u97f3\u6027\u96e3\u8074\u304c\u73fe\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons\" style=\"text-align:center;margin:32px 0;\">\n<div class=\"wp-block-button\" style=\"margin:0 auto;\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/\" style=\"background-color:#2c6e7f;color:#ffffff;border-radius:6px;padding:14px 28px;\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u30fb\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u898b\u308b<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u306e\u539f\u56e0<\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1344\" height=\"768\" src=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17284-h2-2.jpg\" alt=\"\u4e00\u90e8\u304c\u6b20\u3051\u305fDNA\u4e8c\u91cd\u3089\u305b\u3093\u3092\u8868\u3059\u62bd\u8c61\u7684\u306a\u30a4\u30e9\u30b9\u30c8\" class=\"wp-image-17826\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17284-h2-2.jpg 1344w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17284-h2-2-300x171.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17284-h2-2-1024x585.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17284-h2-2-768x439.jpg 768w\" sizes=\"(max-width: 1344px) 100vw, 1344px\" \/><\/figure><\/div>\n\n\n<p><strong>\u539f\u56e0\u306f\u300122q11.2\u9818\u57df\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u7d0430\u301c40\u500b\u306e\u907a\u4f1d\u5b50\u304c\u534a\u5206\u306e\u91cf\u306b\u306a\u308a\u3001\u80ce\u5150\u671f\u306e\u81d3\u5668\u3065\u304f\u308a\u304c\u3046\u307e\u304f\u9032\u307e\u306a\u304f\u306a\u308b\u3053\u3068\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3067\u3059\u3002<\/strong>\u7279\u306b\u7b2c3\u30fb\u7b2c4\u54bd\u982d\u56a2\u306e\u5f62\u6210\u304c\u5f71\u97ff\u3092\u53d7\u3051\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6570\u3042\u308b\u907a\u4f1d\u5b50\u306e\u306a\u304b\u3067\u3082\u3001\u7279\u306b\u91cd\u8981\u3068\u3055\u308c\u308b\u306e\u304c<strong>TBX1<\/strong>\u3068\u3044\u3046\u907a\u4f1d\u5b50\u3067\u3059\u3002TBX1\u306f\u3001\u5fc3\u81d3\u30fb\u80f8\u817a\u30fb\u526f\u7532\u72b6\u817a\u30fb\u9854\u9762\u306e\u5f62\u3065\u304f\u308a\u3067\u53f8\u4ee4\u5854\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u62c5\u3046\u8ee2\u5199\u56e0\u5b50\u3002\u3053\u306e\u907a\u4f1d\u5b50\u304c\u8db3\u308a\u306a\u304f\u306a\u308b\u3053\u3068\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u306e\u591a\u304f\u306b\u3064\u306a\u304c\u3063\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u907a\u4f1d\u306e\u3057\u304f\u307f\u3068\u5bb6\u65cf\u3078\u306e\u5f71\u97ff<\/h3>\n\n\n\n<p>\u6b20\u5931\u304c\u3069\u3053\u304b\u3089\u6765\u305f\u306e\u304b\u306f\u3001\u5927\u304d\u304f2\u3064\u306b\u5206\u304b\u308c\u307e\u3059\u3002<strong>\u7d0490%\u306f\u300c\u65b0\u751f\u7a81\u7136\u5909\u7570\u300d<\/strong>\u3067\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u306a\u307e\u307e\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u3067\u304d\u308b\u904e\u7a0b\u3067\u5076\u7136\u306b\u6b20\u5931\u304c\u751f\u3058\u305f\u3082\u306e\u3067\u3059\u3002\u6b8b\u308a\u7d0410%\u306f\u300c\u5bb6\u65cf\u6027\u300d\u3067\u3001\u89aa\u306e\u3069\u3061\u3089\u304b\u304c22q11.2\u6b20\u5931\u3092\u6301\u3061\u300150%\u306e\u78ba\u7387\u3067\u5b50\u3078\u53d7\u3051\u7d99\u304c\u308c\u307e\u3059\u3002\u89aa\u304c\u8efd\u75c7\u3067\u6c17\u3065\u304b\u305a\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<\/p>\n\n\n\n<p>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u3068\u304d\u306f\u3001\u3054\u5bb6\u65cf\u306e\u691c\u67fb\u3084\u6b21\u306e\u598a\u5a20\u306b\u3064\u3044\u3066\u306e\u76f8\u8ac7\u3082\u5927\u5207\u306b\u306a\u308a\u307e\u3059\u3002<strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong>\u3092\u901a\u3058\u3066\u3001\u6b63\u78ba\u306a\u60c5\u5831\u3092\u3082\u3068\u306b\u843d\u3061\u7740\u3044\u3066\u8003\u3048\u3089\u308c\u308b\u74b0\u5883\u3092\u6574\u3048\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u65b9\u6cd5<\/h2>\n\n\n\n<p><strong>\u8a3a\u65ad\u306f\u300122q11.2\u9818\u57df\u306e\u6b20\u5931\u3092\u691c\u51fa\u3059\u308bFISH\u6cd5\u3084\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306a\u3069\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/strong>\u81e8\u5e8a\u75c7\u72b6\u304b\u3089\u672c\u75c7\u5019\u7fa4\u304c\u7591\u308f\u308c\u305f\u3068\u304d\u306b\u3001\u6b21\u306e\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u691c\u67fb\u6cd5<\/th><th>\u7279\u5fb4<\/th><\/tr><\/thead><tbody>\n<tr><td>FISH\u6cd5\uff08\u86cd\u5149in situ\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff09<\/td><td>22q11.2\u9818\u57df\u306b\u7279\u7570\u7684\u306a\u86cd\u5149\u6a19\u8b58\u3092\u3064\u3051\u3001\u6b20\u5931\u3092\u76f4\u63a5\u691c\u51fa\u3059\u308b\u3002\u73fe\u5728\u3082\u3063\u3068\u3082\u4e00\u822c\u7684<\/td><\/tr>\n<tr><td>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09<\/td><td>\u30b2\u30ce\u30e0\u5168\u4f53\u3092\u30b9\u30ad\u30e3\u30f3\u3057\u3001FISH\u3067\u306f\u898b\u3048\u306a\u3044\u6975\u5c0f\u306e\u6b20\u5931\u3084\u3001\u6b63\u78ba\u306a\u6b20\u5931\u7bc4\u56f2\u307e\u3067\u7279\u5b9a\u3067\u304d\u308b<\/td><\/tr>\n<tr><td>MLPA\u6cd5<\/td><td>\u7279\u5b9a\u9818\u57df\u306e\u30b3\u30d4\u30fc\u6570\u5909\u5316\u3092\u3001\u8907\u6570\u306e\u691c\u4f53\u3067\u540c\u6642\u306b\u89e3\u6790\u3059\u308b\u624b\u6cd5<\/td><\/tr>\n<\/tbody><\/table><\/figure>\n\n\n\n<p>\u598a\u5a20\u4e2d\u306b\u6c17\u306b\u306a\u308b\u5834\u5408\u3001\u51fa\u751f\u524d\u306e\u691c\u67fb\u3067\u67d3\u8272\u4f53\u306e\u5909\u5316\u3092\u8abf\u3079\u308b\u9078\u629e\u80a2\u3082\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057<strong>\u51fa\u751f\u524d\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306f\u3042\u304f\u307e\u3067\u30ea\u30b9\u30af\u3092\u8a55\u4fa1\u3059\u308b\u3082\u306e\u3067\u3001\u78ba\u5b9a\u8a3a\u65ad\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u7d50\u679c\u306e\u610f\u5473\u3084\u6b21\u306e\u4e00\u6b69\u306f\u3001\u5c02\u9580\u5bb6\u3068\u4e00\u7dd2\u306b\u78ba\u8a8d\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u3068\u30b5\u30dd\u30fc\u30c8\u4f53\u5236<\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1344\" height=\"768\" src=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17284-h2-3.jpg\" alt=\"\u5b50\u3069\u3082\u3068\u5bb6\u65cf\u306b\u5bc4\u308a\u6dfb\u3046\u533b\u7642\u30b9\u30bf\u30c3\u30d5\u306e\u30a4\u30e9\u30b9\u30c8\" class=\"wp-image-17827\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17284-h2-3.jpg 1344w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17284-h2-3-300x171.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17284-h2-3-1024x585.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17284-h2-3-768x439.jpg 768w\" sizes=\"(max-width: 1344px) 100vw, 1344px\" \/><\/figure><\/div>\n\n\n<p><strong>\u6b20\u5931\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u65b9\u6cd5\u306f\u4eca\u306e\u3068\u3053\u308d\u306a\u304f\u3001\u75c7\u72b6\u3054\u3068\u306e\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u8907\u6570\u306e\u8a3a\u7642\u79d1\u304c\u9023\u643a\u3059\u308b\u30c1\u30fc\u30e0\u533b\u7642\u304c\u6cbb\u7642\u306e\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<\/strong>\u5e74\u9f62\u306b\u3088\u3063\u3066\u3001\u512a\u5148\u3059\u3079\u304d\u30b1\u30a2\u306e\u91cd\u70b9\u304c\u79fb\u3063\u3066\u3044\u304f\u306e\u3082\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u5916\u79d1\u7684\u306a\u6cbb\u7642<\/h3>\n\n\n\n<p>\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306b\u306f\u3001\u5fc3\u81d3\u8840\u7ba1\u5916\u79d1\u306b\u3088\u308b\u6839\u6cbb\u8853\u3084\u7de9\u548c\u8853\u3092\u884c\u3044\u307e\u3059\u3002\u53e3\u84cb\u88c2\u306b\u5bfe\u3057\u3066\u306f\u3001\u5f62\u6210\u5916\u79d1\u304c\u9589\u9396\u8853\u3084\u3001\u9f3b\u58f0\u3092\u6539\u5584\u3059\u308b\u54bd\u982d\u5f01\u5f62\u6210\u8853\u3092\u62c5\u5f53\u3057\u307e\u3059\u3002\u6b6f\u4e26\u3073\u3084\u54ac\u307f\u5408\u308f\u305b\u306f\u3001\u6b6f\u79d1\u30fb\u77ef\u6b63\u6b6f\u79d1\u304c\u9577\u671f\u7684\u306b\u7ba1\u7406\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u5185\u79d1\u7684\u30fb\u514d\u75ab\u5b66\u7684\u306a\u7ba1\u7406<\/h3>\n\n\n\n<p>\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u306b\u306f\u3001\u5185\u5206\u6ccc\u79d1\u304c\u6d3b\u6027\u578b\u30d3\u30bf\u30df\u30f3D\u88fd\u5264\u3084\u30ab\u30eb\u30b7\u30a6\u30e0\u5264\u3092\u88dc\u3044\u307e\u3059\u3002\u514d\u75ab\u306b\u3064\u3044\u3066\u306f\u5c0f\u5150\u79d1\u30fb\u514d\u75ab\u79d1\u304c\u72b6\u614b\u3092\u8a55\u4fa1\u3057\u3001T\u7d30\u80de\u304c\u8457\u3057\u304f\u4f4e\u3044\u5834\u5408\u306b\u306f\u3001\u611f\u67d3\u4e88\u9632\u3084\u8f38\u8840\u6642\u306e\u653e\u5c04\u7dda\u7167\u5c04\uff08GVHD\u4e88\u9632\uff09\u306a\u3069\u306e\u5bfe\u5fdc\u3092\u3068\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3068\u6559\u80b2\u7684\u306a\u652f\u63f4<\/h3>\n\n\n\n<p>\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09\u3067\u306f\u69cb\u97f3\u306e\u8a13\u7df4\u3084\u98df\u3079\u308b\u7df4\u7fd2\u3092\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u30fb\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3067\u306f\u7b4b\u7dca\u5f35\u306e\u4f4e\u3055\u3084\u767a\u9054\u306e\u9045\u308c\u3078\u306e\u50cd\u304d\u304b\u3051\u3092\u884c\u3044\u307e\u3059\u3002\u5b66\u3073\u306e\u5834\u3067\u306f\u3001\u500b\u5225\u306e\u6559\u80b2\u652f\u63f4\u8a08\u753b\uff08IEP\uff09\u3092\u7acb\u3066\u3001\u62bd\u8c61\u7684\u306a\u6982\u5ff5\u306e\u7406\u89e3\u3084\u793e\u4f1a\u6027\u3092\u652f\u3048\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u601d\u6625\u671f\u4ee5\u964d\u306e\u5fc3\u306e\u30b1\u30a2<\/h3>\n\n\n\n<p>\u601d\u6625\u671f\u3092\u904e\u304e\u305f\u3053\u308d\u304b\u3089\u306f\u3001\u5150\u7ae5\u7cbe\u795e\u79d1\u30fb\u7cbe\u795e\u79d1\u306b\u3088\u308b\u5b9a\u671f\u7684\u306a\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9\u306e\u78ba\u8a8d\u304c\u3059\u3059\u3081\u3089\u308c\u307e\u3059\u3002\u4e0d\u5b89\u3084\u6c17\u5206\u306e\u5909\u5316\u3001\u5e7b\u899a\u30fb\u5984\u60f3\u306a\u3069\u306e\u4e88\u5146\u3092\u65e9\u3081\u306b\u6349\u3048\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u85ac\u3084\u74b0\u5883\u306e\u8abf\u6574\u3092\u884c\u3046\u3053\u3068\u3002\u3053\u308c\u304c\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u5b88\u308b\u3046\u3048\u3067\u3001\u3068\u3066\u3082\u5927\u304d\u306a\u610f\u5473\u3092\u6301\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5f53\u4e8b\u8005\u30fb\u5bb6\u65cf\u304c\u77e5\u3063\u3066\u304a\u304d\u305f\u3044\u3053\u3068<\/h2>\n\n\n\n<p><strong>\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u652f\u63f4\u3092\u65e9\u3044\u6642\u671f\u304b\u3089\u7d9a\u3051\u308b\u3053\u3068\u3067\u3001\u591a\u304f\u306e\u65b9\u304c\u81ea\u5206\u3089\u3057\u3044\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u307e\u3059\u3002<\/strong>\u8a3a\u65ad\u540d\u3060\u3051\u3067\u3001\u305d\u306e\u4eba\u306e\u53ef\u80fd\u6027\u304c\u6c7a\u307e\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u79c1\u305f\u3061\u304c\u691c\u67fb\u3084\u76f8\u8ac7\u306e\u5834\u3067\u65e5\u3005\u611f\u3058\u308b\u306e\u306f\u3001\u540c\u3058\u8a3a\u65ad\u540d\u3067\u3082\u6b69\u3080\u9053\u306f\u672c\u5f53\u306b\u4e00\u4eba\u3072\u3068\u308a\u9055\u3046\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002\u5b9f\u969b\u306bX\uff08\u65e7Twitter\uff09\u3067\u306f\u3001\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u306e\u91cd\u3044\u578b\u306822q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u3044\u3046\u4e8c\u3064\u306e\u30cf\u30f3\u30c7\u30a3\u30ad\u30e3\u30c3\u30d7\u3092\u62b1\u3048\u306a\u304c\u3089\u3001\u30d4\u30a2\u30ce\u3084\u30d0\u30a4\u30aa\u30ea\u30f3\u3092\u821e\u53f0\u3067\u6f14\u594f\u3057\u3001\u4ed5\u4e8b\u3068\u3082\u4e21\u7acb\u3057\u3066\u3044\u308b\u3068\u767a\u4fe1\u3057\u3066\u3044\u308b\u65b9\uff08<a href=\"https:\/\/x.com\/kuchanlove1019\" target=\"_blank\" rel=\"noopener\">@kuchanlove1019<\/a>\u3055\u3093\uff09\u3082\u3044\u307e\u3059\u3002\u5f53\u4e8b\u8005\u306e\u58f0\u306b\u3075\u308c\u308b\u3068\u3001\u6570\u5b57\u3084\u75c7\u72b6\u306e\u4e00\u89a7\u3060\u3051\u3067\u306f\u898b\u3048\u306a\u3044\u4e00\u9762\u306b\u6c17\u3065\u304b\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e73\u5e7c\u5150\u671f\u306f\u5fc3\u81d3\u3084\u514d\u75ab\u306e\u7ba1\u7406\u304c\u6700\u512a\u5148\u3002\u6210\u9577\u3068\u3068\u3082\u306b\u3001\u8a00\u8449\u3084\u5b66\u7fd2\u3001\u305d\u3057\u3066\u5fc3\u306e\u5065\u5eb7\u3078\u3068\u652f\u63f4\u306e\u91cd\u70b9\u304c\u79fb\u3063\u3066\u3044\u304d\u307e\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\u3044\u6642\u671f\u304b\u3089\u5305\u62ec\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u4f53\u5236\u3092\u7bc9\u304f\u3053\u3068\u304c\u3001\u304a\u5b50\u3055\u3093\u306e\u5065\u3084\u304b\u306a\u672a\u6765\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002\u56f0\u3063\u305f\u3068\u304d\u306b\u76f8\u8ac7\u3067\u304d\u308b\u5c02\u9580\u5bb6\u3068\u3064\u306a\u304c\u3063\u3066\u304a\u304f\u3002\u305d\u306e\u3053\u3068\u304c\u3001\u5bb6\u65cf\u306e\u5b89\u5fc3\u306b\u3082\u76f4\u7d50\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u306822q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>\u57fa\u672c\u7684\u306b\u540c\u3058\u75be\u60a3\u3092\u6307\u3057\u307e\u3059\u300222q11.2\u9818\u57df\u306e\u6b20\u5931\u3068\u3044\u3046\u5171\u901a\u306e\u539f\u56e0\u3092\u6301\u3061\u3001\u7740\u76ee\u3059\u308b\u75c7\u72b6\u306b\u3088\u3063\u3066\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u3001\u53e3\u84cb\u5fc3\u81d3\u9854\u9762\u75c7\u5019\u7fa4\u306a\u3069\u3068\u547c\u3073\u5206\u3051\u3089\u308c\u3066\u304d\u307e\u3057\u305f\u3002\u73fe\u5728\u306f\u3001\u3053\u308c\u3089\u3092\u307e\u3068\u3081\u3066\u300c22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u547c\u3076\u306e\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u75c7\u72b6\u306e\u91cd\u3055\u306f\u3069\u306e\u304f\u3089\u3044\u4eba\u306b\u3088\u3063\u3066\u9055\u3044\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>\u500b\u4eba\u5dee\u306f\u3068\u3066\u3082\u5927\u304d\u3044\u3067\u3059\u3002\u91cd\u3044\u5fc3\u75be\u60a3\u304c\u3042\u308a\u65b0\u751f\u5150\u671f\u304b\u3089\u6cbb\u7642\u304c\u5fc5\u8981\u306a\u65b9\u3082\u3044\u308c\u3070\u3001\u5927\u4eba\u306b\u306a\u3063\u3066\u304a\u5b50\u3055\u3093\u306e\u8a3a\u65ad\u3092\u304d\u3063\u304b\u3051\u306b\u8efd\u75c7\u3060\u3068\u308f\u304b\u308b\u65b9\u3082\u3044\u307e\u3059\u3002\u3059\u3079\u3066\u306e\u75c7\u72b6\u304c\u4e00\u4eba\u306b\u305d\u308d\u3046\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u4e00\u4eba\u3072\u3068\u308a\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u306f\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>\u7d0490%\u306f\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u304c\u6b63\u5e38\u3067\u5076\u7136\u306b\u751f\u3058\u308b\u65b0\u751f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002\u7d0410%\u306f\u89aa\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u308b\u5bb6\u65cf\u6027\u3067\u3001\u305d\u306e\u5834\u5408\u306f50%\u306e\u78ba\u7387\u3067\u5b50\u3078\u4f1d\u308f\u308a\u307e\u3059\u3002\u6b21\u306e\u598a\u5a20\u3092\u8003\u3048\u308b\u3068\u304d\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u6b63\u78ba\u306a\u60c5\u5831\u3092\u5f97\u308b\u3053\u3068\u304c\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u3069\u306e\u3088\u3046\u306b\u8a3a\u65ad\u3055\u308c\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>\u81e8\u5e8a\u75c7\u72b6\u304b\u3089\u7591\u308f\u308c\u305f\u5834\u5408\u3001FISH\u6cd5\u3084\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u3001MLPA\u6cd5\u3068\u3044\u3063\u305f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306722q11.2\u306e\u6b20\u5931\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u75c7\u72b6\u304c\u591a\u5f69\u306a\u305f\u3081\u3001\u8907\u6570\u306e\u8a3a\u7642\u79d1\u3067\u306e\u8a55\u4fa1\u3068\u3042\u308f\u305b\u3066\u7dcf\u5408\u7684\u306b\u8a3a\u65ad\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u6cbb\u3059\u3053\u3068\u306f\u3067\u304d\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>\u6b20\u5931\u305d\u306e\u3082\u306e\u3092\u5143\u306b\u623b\u3059\u6cbb\u7642\u306f\u3001\u4eca\u306e\u3068\u3053\u308d\u3042\u308a\u307e\u305b\u3093\u3002\u305f\u3060\u3057\u3001\u5fc3\u75be\u60a3\u306e\u624b\u8853\u3001\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u3078\u306e\u88dc\u5145\u3001\u8a00\u8a9e\u3084\u767a\u9054\u306e\u652f\u63f4\u306a\u3069\u3001\u75c7\u72b6\u3054\u3068\u306e\u6cbb\u7642\u3068\u30b1\u30a2\u306f\u6570\u591a\u304f\u3042\u308a\u307e\u3059\u3002\u65e9\u671f\u304b\u3089\u30c1\u30fc\u30e0\u533b\u7642\u3067\u652f\u3048\u308b\u3053\u3068\u3067\u3001\u591a\u304f\u306e\u65b9\u304c\u81ea\u7acb\u3057\u305f\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u307e\u3068\u3081<\/h2>\n\n\n\n<p><strong>\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\uff0822q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff09\u306f\u75c7\u72b6\u304c\u591a\u5c90\u306b\u308f\u305f\u308b\u305f\u3081\u3001\u8907\u6570\u306e\u5c02\u9580\u533b\u304c\u9023\u643a\u3059\u308b\u30c1\u30fc\u30e0\u533b\u7642\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/strong>\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\u304c\u3001\u305d\u308c\u305e\u308c\u306e\u5f79\u5272\u3067\u652f\u3048\u307e\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\u30fb\u5b66\u7fd2\u30fb\u5fc3\u306e\u5065\u5eb7\u3078\u3068\u30b5\u30dd\u30fc\u30c8\u306e\u91cd\u70b9\u304c\u79fb\u308a\u307e\u3059\u3002\u4e00\u4eba\u3072\u3068\u308a\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u3066\u9069\u5207\u306a\u4ecb\u5165\u3092\u7d9a\u3051\u308b\u3053\u3068\u3067\u3001\u591a\u304f\u306e\u65b9\u304c\u81ea\u5206\u3089\u3057\u3044\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u308c\u307e\u3059\u3002<strong>\u65e9\u671f\u304b\u3089\u5305\u62ec\u7684\u306a\u652f\u63f4\u4f53\u5236\u3092\u6574\u3048\u308b\u3053\u3068<\/strong>\u304c\u3001\u5065\u3084\u304b\u306a\u672a\u6765\u3078\u306e\u78ba\u304b\u306a\u4e00\u6b69\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons\" style=\"text-align:center;margin:32px 0;\">\n<div class=\"wp-block-button\" style=\"margin:0 auto;\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/\" style=\"background-color:#2c6e7f;color:#ffffff;border-radius:6px;padding:14px 28px;\">\u907a\u4f1d\u5b50\u691c\u67fb\u30fb\u51fa\u751f\u524d\u691c\u67fb\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u30fb\u51fa\u5178<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u300c22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u6307\u5b9a\u96e3\u75c5203\uff09\u300d<a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5318\" target=\"_blank\" rel=\"noopener\">https:\/\/www.nanbyou.or.jp\/entry\/5318<\/a><\/li>\n<li>MedlinePlus Genetics\u300c22q11.2 deletion syndrome\u300d<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/22q112-deletion-syndrome\/\" target=\"_blank\" rel=\"noopener\">https:\/\/medlineplus.gov\/genetics\/condition\/22q112-deletion-syndrome\/<\/a><\/li>\n<li>GeneReviews\u00ae\u300c22q11.2 Deletion Syndrome\u300d\uff08NCBI Bookshelf\uff09<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1523\/\" target=\"_blank\" rel=\"noopener\">https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1523\/<\/a><\/li>\n<\/ul>\n\n\n\n<script 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