{"id":17352,"date":"2026-01-22T02:52:52","date_gmt":"2026-01-22T02:52:52","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17352"},"modified":"2026-01-22T08:14:51","modified_gmt":"2026-01-22T08:14:51","slug":"kbg-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/kbg-syndrome\/","title":{"rendered":"KBG 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><strong>KBG\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>ANKRD11\u95a2\u9023\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>16q24.3\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4<\/strong>\uff08\u539f\u56e0\u304c\u6b20\u5931\u306b\u3088\u308b\u5834\u5408\uff09<\/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>16\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0924.3\u9818\u57df<\/strong><\/p>\n\n\n\n<p>KBG\u75c7\u5019\u7fa4\u306f\u300116\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u672b\u7aef\u8fd1\u304f\u306b\u4f4d\u7f6e\u3059\u308b <strong>ANKRD11\u907a\u4f1d\u5b50<\/strong> \u306e\u5909\u7570\u3001\u307e\u305f\u306f\u3053\u306e\u907a\u4f1d\u5b50\u3092\u542b\u3080\u9818\u57df\u306e\u5fae\u5c0f\u306a\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068ANKRD11\u907a\u4f1d\u5b50\u306e\u5f79\u5272\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8cac\u4efb\u907a\u4f1d\u5b50:<\/strong> <em>ANKRD11<\/em> (Ankyrin Repeat Domain-Containing Protein 11)<\/li>\n\n\n\n<li><strong>\u5f79\u5272:<\/strong> <em>ANKRD11<\/em>\u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u306e\u6838\u5185\u3067\u50cd\u304f\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u4ed6\u306e\u30bf\u30f3\u30d1\u30af\u8cea\uff08\u8ee2\u5199\u56e0\u5b50\u306a\u3069\uff09\u3068\u7d50\u5408\u3057\u3066\u3001\u8133\u306e\u767a\u9054\u3084\u9aa8\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u591a\u304f\u306e\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u300c\u30b3\u30fb\u30ec\u30ae\u30e5\u30ec\u30fc\u30bf\u30fc\uff08\u5171\u8abf\u7bc0\u56e0\u5b50\uff09\u300d\u3068\u3057\u3066\u6a5f\u80fd\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u75c5\u614b\u30e1\u30ab\u30cb\u30ba\u30e0:<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u306e\u7247\u65b9\u306b\u5909\u7570\u304c\u8d77\u304d\u3001\u6b63\u5e38\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u534a\u5206\u306b\u6e1b\u3063\u3066\u3057\u307e\u3046\u300c\u30cf\u30d7\u30ed\u4e0d\u5168\u300d\u306e\u72b6\u614b\u306b\u306a\u308b\u3068\u3001\u795e\u7d4c\u7d30\u80de\u306e\u5206\u5316\u3084\u9aa8\u82bd\u7d30\u80de\u306e\u6210\u719f\u304c\u9069\u5207\u306b\u884c\u308f\u308c\u306a\u304f\u306a\u308a\u3001KBG\u75c7\u5019\u7fa4\u7279\u6709\u306e\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/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>\u6b63\u78ba\u306a\u983b\u5ea6\u306f\u4e0d\u660e\uff08\u5e0c\u5c11\u75be\u60a3\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u63a8\u5b9a\u983b\u5ea6:<\/strong> \u304b\u3064\u3066\u306f\u6975\u3081\u3066\u7a00\u306a\u75be\u60a3\u3068\u8003\u3048\u3089\u308c\u3066\u304d\u307e\u3057\u305f\u304c\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\uff08NGS\uff09\u3092\u7528\u3044\u305f\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u666e\u53ca\u3057\u305f\u3053\u3068\u306b\u3088\u308a\u3001\u8a3a\u65ad\u3055\u308c\u308b\u75c7\u4f8b\u304c\u6025\u901f\u306b\u5897\u3048\u3066\u3044\u307e\u3059\u3002\u73fe\u5728\u3067\u306f\u3001\u539f\u56e0\u4e0d\u660e\u306e\u77e5\u7684\u969c\u5bb3\u3084\u767a\u9054\u9045\u6ede\u3092\u6301\u3064\u4eba\u3005\u306e\u4e2d\u306b\u3001\u4e00\u5b9a\u306e\u5272\u5408\u3067\u5b58\u5728\u3059\u308b\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee:<\/strong> \u7537\u5973\u5dee\u306f\u306a\u304f\u3001\u3069\u3061\u3089\u306e\u6027\u5225\u3067\u3082\u767a\u75c7\u3057\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u7537\u6027\u306e\u65b9\u304c\u5973\u6027\u3088\u308a\u3082\u81e8\u5e8a\u75c7\u72b6\uff08\u7279\u306b\u6b6f\u306e\u5927\u304d\u3055\u3084\u9aa8\u683c\u7570\u5e38\uff09\u304c\u9855\u8457\u306b\u73fe\u308c\u3084\u3059\u3044\u3068\u3044\u3046\u50be\u5411\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>KBG\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u975e\u5e38\u306b\u591a\u5f69\u3067\u3059\u304c\u3001\u8a3a\u65ad\u306e\u9375\u3068\u306a\u308b\u300c\u4e3b\u8981\u306a4\u3064\u306e\u7279\u5fb4\u300d\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u7279\u5fb4\u7684\u306a\u6b6f\u79d1\u6240\u898b\uff08Macrodontia\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5de8\u5927\u4e2d\u5207\u6b6f:<\/strong> \u4e0a\u306e\u6c38\u4e45\u6b6f\u306e\u771f\u3093\u4e2d2\u672c\uff08\u4e2d\u5207\u6b6f\uff09\u304c\u975e\u5e38\u306b\u5927\u304d\u3044\u3053\u3068\u304c\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002\u3053\u308c\u306f\u60a3\u8005\u306e95%\u4ee5\u4e0a\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u6b6f\u79d1\u7570\u5e38:<\/strong> \u6b6f\u306e\u6b20\u640d\u3001\u30a8\u30ca\u30e1\u30eb\u8cea\u306e\u4f4e\u5f62\u6210\u3001\u6b6f\u4e26\u3073\u306e\u7570\u5e38\uff08\u53e2\u751f\uff09\u306a\u3069\u304c\u983b\u7e41\u306b\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Facial Dysmorphism\uff09<\/strong><\/p>\n\n\n\n<p>\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5316\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u5171\u901a\u3057\u305f\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e09\u89d2\u9854\u8c8c:<\/strong> \u984d\u304c\u5e83\u304f\u3001\u3042\u3054\u304c\u7d30\u3044\u3002<\/li>\n\n\n\n<li><strong>\u7709\u306e\u7279\u5fb4:<\/strong> \u7709\u6bdb\u304c\u6fc3\u304f\u3001\u7279\u306b\u5185\u5074\u304c\u592a\u3044\u3001\u3042\u308b\u3044\u306f\u5de6\u53f3\u304c\u3064\u306a\u304c\u3063\u3066\u3044\u308b\uff08\u9023\u7709\uff09\u3002<\/li>\n\n\n\n<li><strong>\u76ee:<\/strong> \u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3001\u3042\u308b\u3044\u306f\u5927\u304d\u306a\u76ee\u304c\u7279\u5fb4\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9f3b:<\/strong> \u9f3b\u6839\u90e8\u304c\u4f4e\u304f\u3001\u9f3b\u5148\u304c\u4e38\u3044\uff08\u7403\u72b6\u306e\u9f3b\uff09\u3002<\/li>\n\n\n\n<li><strong>\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\u306e\u6e9d\uff09:<\/strong> \u9577\u304f\u3001\u5e73\u5766\u3067\u3042\u308b\u3002<\/li>\n\n\n\n<li><strong>\u4e0a\u5507:<\/strong> \u975e\u5e38\u306b\u8584\u3044\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u9aa8\u683c\u304a\u3088\u3073\u8eab\u4f53\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8eab\u9577:<\/strong> \u591a\u304f\u306e\u75c7\u4f8b\u3067\u3001\u6210\u9577\u66f2\u7dda\u306e\u4e0b\u9650\u3001\u3042\u308b\u3044\u306f\u6a19\u6e96\u3092\u4e0b\u56de\u308b\u4f4e\u8eab\u9577\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u9aa8\u5e74\u9f62\u306e\u9045\u5ef6\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u624b\u306e\u7570\u5e38:<\/strong> \u77ed\u6307\u75c7\uff08\u6307\u304c\u77ed\u3044\uff09\u3001\u7279\u306b\u7b2c5\u6307\uff08\u5c0f\u6307\uff09\u306e\u5185\u6e7e\u3084\u3001\u624b\u9996\u306e\u9aa8\uff08\u624b\u6839\u9aa8\uff09\u306e\u9aa8\u5316\u9045\u5ef6\u3002<\/li>\n\n\n\n<li><strong>\u810a\u690e\u306e\u7570\u5e38:<\/strong> \u810a\u690e\u306e\u7652\u5408\u3001\u3042\u308b\u3044\u306f\u8efd\u5ea6\u306e\u5074\u5f2f\u75c7\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u795e\u7d4c\u767a\u9054\u3068\u884c\u52d5\u9762<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u6ede\u30fb\u77e5\u7684\u969c\u5bb3:<\/strong> \u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u307e\u305f\u306f\u5b66\u7fd2\u969c\u5bb3\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u8a00\u8449\u306e\u767a\u9054\u304c\u7279\u306b\u9045\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027:<\/strong> \u6ce8\u610f\u6b20\u9665\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u3001\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u7684\u306a\u50be\u5411\u3001\u4e0d\u5b89\u611f\u3001\u3042\u308b\u3044\u306f\u611f\u60c5\u306e\u8d77\u4f0f\u304c\u6fc0\u3057\u3044\uff08\u6613\u523a\u6fc0\u6027\uff09\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong> \u7d0420\u301c50%\u306e\u75c7\u4f8b\u3067\u3001\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002\u591a\u304f\u306f\u85ac\u7269\u7642\u6cd5\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u53ef\u80fd\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u96e3\u8074:<\/strong> \u4f1d\u97f3\u6027\u96e3\u8074\uff08\u4e2d\u8033\u708e\u306e\u7e70\u308a\u8fd4\u3057\u306b\u3088\u308b\u3082\u306e\uff09\u3084\u611f\u97f3\u6027\u96e3\u8074\u3002<\/li>\n\n\n\n<li><strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3:<\/strong> \u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u306a\u3069\u306e\u8efd\u5ea6\u306e\u5fc3\u5947\u5f62\uff08\u7d0410\u301c20%\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8996\u899a\u7570\u5e38:<\/strong> \u659c\u8996\u3084\u9060\u8996\u3002<\/li>\n\n\n\n<li><strong>\u6f5c\u4f0f\u7cbe\u5de3:<\/strong> \u7537\u5150\u306b\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>ANKRD11\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3001\u307e\u305f\u306f16q24.3\u5fae\u5c0f\u6b20\u5931\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u5f62\u5f0f\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5f62\u5f0f:<\/strong><strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d<\/strong> \u3067\u3059\u3002\n<ul class=\"wp-block-list\">\n<li>\u907a\u4f1d\u5b50\u306e\u5bfe\u306e\u3046\u3061\u3001\u7247\u65b9\u306b\u5909\u7570\u304c\u3042\u308b\u3060\u3051\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u65b0\u751f\u5909\u7570\u3068\u7d99\u627f:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u65b0\u751f\u5909\u7570:<\/strong> \u5bb6\u65cf\u306b\u8ab0\u3082\u3044\u306a\u3044\u72b6\u614b\u3067\u3001\u53d7\u7cbe\u5375\u306e\u6bb5\u968e\u3067\u7a81\u5982\u3068\u3057\u3066\u5909\u7570\u304c\u751f\u3058\u308b\u30b1\u30fc\u30b9\u304c\u6700\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u89aa\u304b\u3089\u306e\u7d99\u627f:<\/strong> \u7247\u65b9\u306e\u89aa\u304cKBG\u75c7\u5019\u7fa4\u3067\u3042\u308b\u5834\u5408\u300150%\u306e\u78ba\u7387\u3067\u5b50\u4f9b\u306b\u907a\u4f1d\u3057\u307e\u3059\u3002\u89aa\u304c\u975e\u5e38\u306b\u8efd\u75c7\u3067\u3001\u5b50\u4f9b\u304c\u8a3a\u65ad\u3055\u308c\u3066\u521d\u3081\u3066\u89aa\u3082KBG\u75c7\u5019\u7fa4\u3067\u3042\u3063\u305f\u3068\u5224\u660e\u3059\u308b\u30b1\u30fc\u30b9\uff08\u8868\u73fe\u578b\u306e\u591a\u69d8\u6027\uff09\u3082\u5897\u3048\u3066\u3044\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>\u81e8\u5e8a\u7684\u306a\u7279\u5fb4\u306e\u30b9\u30b3\u30a2\u30ea\u30f3\u30b0\u3068\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u8a3a\u65ad\u3092\u78ba\u5b9a\u3055\u305b\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u8a3a\u65ad\u57fa\u6e96:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5de8\u5927\u4e2d\u5207\u6b6f\uff08\u6c38\u4e45\u6b6f\uff09\u3002<\/li>\n\n\n\n<li>\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3002<\/li>\n\n\n\n<li>\u624b\u306e\u7570\u5e38\uff08\u77ed\u6307\u3084\u5c0f\u6307\u306e\u5185\u6e7e\uff09\u3002<\/li>\n\n\n\n<li>\u795e\u7d4c\u767a\u9054\u306e\u9045\u308c\u3002<br>\u3053\u308c\u3089\u304c\u8907\u6570\u63c3\u3063\u3066\u3044\u308b\u5834\u5408\u306b\u7591\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb\uff08\u78ba\u5b9a\u8a3a\u65ad\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong><em>ANKRD11<\/em><\/strong><strong>\u907a\u4f1d\u5b50\u306e\u30b7\u30fc\u30b1\u30f3\u30b9\u89e3\u6790:<\/strong> \u907a\u4f1d\u5b50\u5185\u306e\u5c0f\u3055\u306a\u5909\u7570\uff08\u5869\u57fa\u306e\u7f6e\u63db\u306a\u3069\uff09\u3092\u898b\u3064\u3051\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb (CMA):<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u308016q24.3\u9818\u57df\u306e\u6b20\u5931\u3092\u691c\u51fa\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u624b\u306e\u30ec\u30f3\u30c8\u30b2\u30f3:<\/strong> \u9aa8\u5e74\u9f62\u3084\u624b\u6839\u9aa8\u306e\u7570\u5e38\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u982d\u90e8MRI:<\/strong> \u8133\u306e\u69cb\u9020\u3092\u78ba\u8a8d\uff08\u591a\u304f\u306f\u6b63\u5e38\u3067\u3059\u304c\u3001\u4e00\u90e8\u306b\u8133\u6881\u306e\u7570\u5e38\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u30d1\u30ce\u30e9\u30de\u30ec\u30f3\u30c8\u30b2\u30f3:<\/strong> \u672a\u840c\u51fa\u306e\u6c38\u4e45\u6b6f\u306e\u5927\u304d\u3055\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\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\u6cbb\u7642\u6cd5\uff08\u907a\u4f1d\u5b50\u4fee\u5fa9\u306a\u3069\uff09\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u5404\u75c7\u72b6\u306b\u5bfe\u3059\u308b**\u300c\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5bfe\u75c7\u7642\u6cd5\u300d**\u304c\u975e\u5e38\u306b\u6709\u52b9\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6559\u80b2\u30fb\u767a\u9054\u652f\u63f4\uff08\u65e9\u671f\u4ecb\u5165\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3:<\/strong> \u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3059\u308b\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09\u3001\u904b\u52d5\u9762\u306e\u9045\u308c\u306b\u5bfe\u3059\u308b\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3084\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3092\u65e9\u671f\u304b\u3089\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5225\u652f\u63f4\u6559\u80b2:<\/strong> \u500b\u3005\u306e\u77e5\u7684\u30ec\u30d9\u30eb\u3084\u884c\u52d5\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u6559\u80b2\u74b0\u5883\u3092\u6574\u3048\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6b6f\u79d1\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77ef\u6b63\u6b6f\u79d1:<\/strong> \u6b6f\u306e\u30b5\u30a4\u30ba\u304c\u5927\u304d\u3044\u305f\u3081\u3001\u6df1\u523b\u306a\u53e2\u751f\uff08\u30ac\u30bf\u30ac\u30bf\u306e\u6b6f\u4e26\u3073\uff09\u306b\u306a\u308a\u3084\u3059\u304f\u3001\u65e9\u671f\u304b\u3089\u306e\u6b6f\u79d1\u77ef\u6b63\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u691c\u8a3a:<\/strong> \u30a8\u30ca\u30e1\u30eb\u8cea\u306e\u4f4e\u5f62\u6210\u304c\u3042\u308b\u5834\u5408\u3001\u866b\u6b6f\u306b\u306a\u308a\u3084\u3059\u3044\u305f\u3081\u3001\u4e88\u9632\u6b6f\u79d1\u7684\u306a\u95a2\u308f\u308a\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5185\u79d1\u30fb\u5185\u5206\u6ccc\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8eab\u9577\u3078\u306e\u5bfe\u5fdc:<\/strong> \u6210\u9577\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u4e0d\u5168\u304c\u3042\u308b\u5834\u5408\u306b\u306f\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002KBG\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u306b\u304a\u3044\u3066\u3001\u3053\u306e\u6cbb\u7642\u306b\u3088\u308a\u6700\u7d42\u8eab\u9577\u304c\u6539\u5584\u3057\u305f\u3068\u3044\u3046\u5831\u544a\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\u306e\u7ba1\u7406:<\/strong> \u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u9069\u5207\u306a\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u611f\u899a\u5668\u306e\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8033\u9f3b\u54bd\u5589\u79d1:<\/strong> \u96e3\u8074\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u3001\u4e2d\u8033\u708e\u306e\u65e9\u671f\u6cbb\u7642\u3084\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u88dc\u8074\u5668\u306e\u4f7f\u7528\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1:<\/strong> \u659c\u8996\u3084\u5c48\u6298\u7570\u5e38\u306e\u77ef\u6b63\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u7cbe\u795e\u30fb\u884c\u52d5\u9762\u3078\u306e\u4ecb\u5165<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>ADHD\u3084ASD\u7684\u50be\u5411\u3001\u611f\u60c5\u8abf\u7bc0\u306e\u56f0\u96e3\u3055\u306b\u5bfe\u3057\u3001\u884c\u52d5\u7642\u6cd5\u3084\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u74b0\u5883\u8abf\u6574\u3001\u85ac\u7269\u7642\u6cd5\uff08\u6ce8\u610f\u529b\u3092\u9ad8\u3081\u308b\u85ac\u306a\u3069\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u751f\u5b58\u671f\u9593:<\/strong> \u4e00\u822c\u7684\u306a\u5bff\u547d\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3088\u3046\u306a\u81f4\u547d\u7684\u306a\u5408\u4f75\u75c7\uff08\u91cd\u5ea6\u306e\u5185\u81d3\u5947\u5f62\u306a\u3069\uff09\u306f\u7a00\u3067\u3042\u308a\u3001\u4e88\u5f8c\u306f\u4e00\u822c\u306b\u826f\u597d\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u7acb\u6027:<\/strong> \u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u3088\u308a\u307e\u3059\u304c\u3001\u9069\u5207\u306a\u652f\u63f4\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u591a\u304f\u306e\u60a3\u8005\u304c\u5c31\u52b4\u3057\u3001\u81ea\u7acb\u3057\u305f\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9577\u671f\u7684\u306a\u8ab2\u984c:<\/strong> \u6210\u4eba\u671f\u306b\u304a\u3044\u3066\u306f\u3001\u7cbe\u795e\u7684\u306a\u5065\u5eb7\u7ba1\u7406\u3084\u3001\u6b21\u4e16\u4ee3\u3078\u306e\u907a\u4f1d\u306b\u95a2\u3059\u308b\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u8ab2\u984c\u3068\u306a\u308a\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>KBG\u75c7\u5019\u7fa4\u306f\u3001\u5927\u304d\u306a\u524d\u6b6f\u3001\u89aa\u3057\u307f\u3084\u3059\u3044\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3001\u305d\u3057\u3066\u767a\u9054\u306e\u3086\u3063\u304f\u308a\u3055\u3092\u6301\u3064\u3001\u907a\u4f1d\u7684\u306a\u4f53\u8cea\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4ee5\u524d\u306f\u300c\u975e\u5e38\u306b\u73cd\u3057\u3044\u75c5\u6c17\u300d\u3068\u3055\u308c\u3066\u304d\u307e\u3057\u305f\u304c\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u5b9f\u306f\u8eab\u8fd1\u306b\u3042\u308b\u500b\u6027\u306e\u4e00\u3064\u3067\u3042\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u300c\u767a\u9054\u304c\u9045\u3044\u300d\u300c\u80cc\u304c\u4f4e\u3044\u300d\u300c\u6b6f\u304c\u4e26\u3073\u304d\u3089\u306a\u3044\u300d\u3068\u3044\u3063\u305f\u500b\u5225\u306e\u60a9\u307f\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u3089\u306f\u73fe\u4ee3\u306e\u533b\u7642\u3084\u7642\u80b2\u306b\u3088\u3063\u3066\u3001\u4e00\u3064\u3072\u3068\u3064\u30b5\u30dd\u30fc\u30c8\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4f55\u3088\u308a\u3082\u5927\u5207\u306a\u306e\u306f\u3001\u65e9\u671f\u306b\u3053\u306e\u7279\u6027\u3092\u7406\u89e3\u3057\u3001\u304a\u5b50\u69d8\u306e\u5f97\u610f\u306a\u3053\u3068\u3092\u4f38\u3070\u3057\u3001\u82e6\u624b\u306a\u90e8\u5206\u3092\u74b0\u5883\u3067\u88dc\u3063\u3066\u3042\u3052\u308b\u3053\u3068\u3067\u3059\u3002KBG\u75c7\u5019\u7fa4\u306e\u65b9\u306f\u3001\u660e\u308b\u304f\u793e\u4ea4\u7684\u306a\u6027\u683c\u3092\u6301\u3064\u3053\u3068\u3082\u591a\u3044\u3068\u8a00\u308f\u308c\u3066\u3044\u307e\u3059\u3002\u5c02\u9580\u533b\u3084\u7642\u80b2\u30c1\u30fc\u30e0\u3068\u5354\u529b\u3057\u306a\u304c\u3089\u3001\u305d\u306e\u5b50\u3089\u3057\u3044\u8c4a\u304b\u306a\u4eba\u751f\u3092\u652f\u3048\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Herrmann, J., Pallister, P. D., Tiddy, W., &amp; Opitz, J. M.<\/strong> (1975). <em>The KBG syndrome-a syndrome of retinitis pigmentosa, mental retardation, skeletal anomalies, and characteristic facies.<\/em> Birth Defects Original Article Series.\n<ul class=\"wp-block-list\">\n<li>\uff08KBG\u75c7\u5019\u7fa4\u304c\u521d\u3081\u3066\u533b\u5b66\u754c\u306b\u5831\u544a\u3055\u308c\u305f\u6b74\u53f2\u7684\u8ad6\u6587\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Sirmaci, A., et al.<\/strong> (2011). <em>ANKRD11 mutations cause KBG syndrome.<\/em> American Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08KBG\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u304cANKRD11\u3067\u3042\u308b\u3053\u3068\u3092\u4e16\u754c\u3067\u521d\u3081\u3066\u7279\u5b9a\u3057\u305f\u753b\u671f\u7684\u306a\u8ad6\u6587\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Ockeloen, C. W., et al.<\/strong> (2015). <em>ANKRD11 variants: expanding the clinical and molecular spectrum of KBG syndrome.<\/em> Genetics in Medicine.\n<ul class=\"wp-block-list\">\n<li>\uff08\u907a\u4f1d\u5b50\u5909\u7570\u306e\u591a\u69d8\u6027\u3068\u3001\u305d\u308c\u306b\u5bfe\u5fdc\u3059\u308b\u81e8\u5e8a\u75c7\u72b6\uff08\u30d5\u30a7\u30ce\u30bf\u30a4\u30d7\uff09\u306e\u5e83\u304c\u308a\u3092\u8a73\u7d30\u306b\u5206\u6790\u3057\u305f\u6587\u732e\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Skjei, K. L., et al.<\/strong> (2007). <em>The KBG syndrome: an update of clinical features and molecular genetic analysis.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u81e8\u5e8a\u8a3a\u65ad\u57fa\u6e96\u306e\u78ba\u7acb\u306b\u5bc4\u4e0e\u3057\u305f\u3001\u5305\u62ec\u7684\u306a\u30ec\u30d3\u30e5\u30fc\u6587\u732e\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>KBG Syndrome<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u6700\u65b0\u306e\u8a3a\u65ad\u30fb\u7ba1\u7406\u30fb\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3092\u7db2\u7f85\u3057\u305f\u3001\u4e16\u754c\u3067\u6700\u3082\u4fe1\u983c\u3055\u308c\u308b\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>KBG Syndrome: A guide for families and professionals<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u75be\u60a3\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u3001\u3054\u5bb6\u65cf\u5411\u3051\u306e\u5b9f\u8df5\u7684\u306a\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>OMIM (Online Mendelian Inheritance in Man)<\/strong>: <em>#148050 KBG SYNDROME<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u4e16\u754c\u4e2d\u306e\u7814\u7a76\u8005\u304c\u53c2\u7167\u3059\u308b\u3001\u907a\u4f1d\u5b50\u75be\u60a3\u306e\u5b66\u8853\u7684\u60c5\u5831\u3092\u96c6\u7d04\u3057\u305f\u30b5\u30a4\u30c8\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Morel Swols, D., et al.<\/strong> (2017). <em>Growth hormone therapy in KBG syndrome.<\/em> American Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u4f4e\u8eab\u9577\u306b\u5bfe\u3059\u308b\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5\u306e\u6709\u52b9\u6027\u306b\u3064\u3044\u3066\u8b70\u8ad6\u3057\u3066\u3044\u308b\u5c02\u9580\u8ad6\u6587\u3067\u3059\u3002\uff09<\/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-17352","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\/17352","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\/17352\/revisions"}],"predecessor-version":[{"id":17592,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17352\/revisions\/17592"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17352"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}