{"id":17245,"date":"2026-01-22T00:26:26","date_gmt":"2026-01-22T00:26:26","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17245"},"modified":"2026-07-18T09:51:37","modified_gmt":"2026-07-18T09:51:37","slug":"cat-eye-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/cat-eye-syndrome\/","title":{"rendered":"\u30ad\u30e3\u30c3\u30c8\u30a2\u30a4\u75c7\u5019\u7fa4\uff08\u732b\u76ee\u75c7\u5019\u7fa4\uff09\u3068\u306f\uff1f\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u7279\u5fb4\u3092\u89e3\u8aac"},"content":{"rendered":"\n<p><strong>\u30ad\u30e3\u30c3\u30c8\u30a2\u30a4\u75c7\u5019\u7fa4\uff08\u732b\u76ee\u75c7\u5019\u7fa4\uff09\u306f\u300122\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u904e\u5270\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u76ee\u30fb\u8033\u30fb\u809b\u9580\u30fb\u5fc3\u81d3\u306a\u3069\u5168\u8eab\u306b\u3055\u307e\u3056\u307e\u306a\u75c7\u72b6\u304c\u73fe\u308c\u308b\u5148\u5929\u6027\u306e\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002<\/strong>\u300c\u732b\u306e\u76ee\u300d\u3068\u3044\u3046\u540d\u524d\u304b\u3089\u76ee\u306e\u75c5\u6c17\u3068\u601d\u308f\u308c\u304c\u3061\u3067\u3059\u304c\u3001\u5b9f\u969b\u306b\u306f\u8033\u306e\u524d\u306e\u5c0f\u3055\u306a\u7a81\u8d77\u3084\u9396\u809b\uff08\u809b\u9580\u9589\u9396\uff09\u306e\u307b\u3046\u304c\u9ad8\u3044\u983b\u5ea6\u3067\u898b\u3089\u308c\u307e\u3059\u3002\u75c7\u72b6\u306e\u91cd\u3055\u306b\u306f\u975e\u5e38\u306b\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u307b\u3068\u3093\u3069\u7121\u75c7\u72b6\u306e\u65b9\u304b\u3089\u624b\u8853\u304c\u5fc5\u8981\u306a\u65b9\u307e\u3067\u3055\u307e\u3056\u307e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u30ad\u30e3\u30c3\u30c8\u30a2\u30a4\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u8a3a\u65ad\u30fb\u6cbb\u7642\u3092\u3001\u516c\u7684\u306a\u533b\u5b66\u60c5\u5831\u306b\u3082\u3068\u3065\u3044\u3066\u3067\u304d\u308b\u3060\u3051\u308f\u304b\u308a\u3084\u3059\u304f\u6574\u7406\u3057\u307e\u3057\u305f\u3002\u304a\u5b50\u3055\u3093\u306e\u8a3a\u65ad\u306b\u4e0d\u5b89\u3092\u611f\u3058\u3066\u3044\u308b\u3054\u5bb6\u65cf\u304c\u3001\u6b21\u306b\u4f55\u3092\u78ba\u8a8d\u3059\u308c\u3070\u3088\u3044\u304b\u304c\u308f\u304b\u308b\u5185\u5bb9\u3092\u76ee\u6307\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30ad\u30e3\u30c3\u30c8\u30a2\u30a4\u75c7\u5019\u7fa4\uff08\u732b\u76ee\u75c7\u5019\u7fa4\uff09\u304c22\u756a\u67d3\u8272\u4f53\u306e\u3069\u3093\u306a\u5909\u5316\u3067\u8d77\u3053\u308b\u306e\u304b<\/li>\n\n\n<li>3\u5927\u5fb4\u5019\uff08\u773c\u306e\u30b3\u30ed\u30dc\u30fc\u30de\u30fb\u8033\u524d\u90e8\u306e\u7570\u5e38\u30fb\u9396\u809b\uff09\u3068\u3001\u305d\u308c\u305e\u308c\u306e\u983b\u5ea6<\/li>\n\n\n<li>\u77e5\u7684\u767a\u9054\u306e\u898b\u901a\u3057\u306a\u3069\u3001\u3054\u5bb6\u65cf\u304c\u6c17\u306b\u306a\u308a\u3084\u3059\u3044\u30dd\u30a4\u30f3\u30c8<\/li>\n\n\n<li>\u8a3a\u65ad\u306b\u4f7f\u3046\u691c\u67fb\uff08\u67d3\u8272\u4f53\u691c\u67fb\u30fbFISH\u30fb\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\uff09\u306e\u6d41\u308c<\/li>\n\n\n<li>\u6cbb\u7642\u306e\u8003\u3048\u65b9\u3068\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3067\u304d\u308b\u3053\u3068<\/li>\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/h2>\n\n\n\n<p><strong>\u30ad\u30e3\u30c3\u30c8\u30a2\u30a4\u75c7\u5019\u7fa4\u306b\u306f\u3001\u6210\u308a\u7acb\u3061\u3084\u6b74\u53f2\u306b\u7531\u6765\u3059\u308b\u3044\u304f\u3064\u304b\u306e\u5225\u540d\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u30ab\u30eb\u30c6\u3084\u691c\u67fb\u5831\u544a\u66f8\u3067\u6b21\u306e\u3088\u3046\u306a\u540d\u79f0\u3092\u898b\u304b\u3051\u305f\u3068\u304d\u306f\u3001\u3044\u305a\u308c\u3082\u540c\u3058\u75be\u60a3\u3092\u6307\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3066\u5dee\u3057\u652f\u3048\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30b7\u30e5\u30df\u30c3\u30c8\u30fb\u30d5\u30e9\u30c3\u30ab\u30ed\u75c7\u5019\u7fa4\uff08Schmid-Fraccaro syndrome\uff09\uff1a1965\u5e74\u306b\u3053\u306e\u75be\u60a3\u306e\u67d3\u8272\u4f53\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u5831\u544a\u3057\u305f2\u4eba\u306e\u533b\u5e2b\u306b\u3061\u306a\u3093\u3060\u3001\u6b63\u5f0f\u306a\u5225\u540d\u3067\u3059\u3002<\/li>\n\n\n<li>\u90e8\u520622q\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\uff08Partial tetrasomy 22q\uff09\uff1a\u300c22\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c4\u672c\u3042\u308b\u300d\u3068\u3044\u3046\u907a\u4f1d\u5b66\u7684\u306a\u72b6\u614b\u3092\u6b63\u78ba\u306b\u8868\u3057\u305f\u540d\u79f0\u3067\u3059\u3002<\/li>\n\n\n<li>22\u756a\u67d3\u8272\u4f53\u9006\u4f4d\u91cd\u8907\uff08inv dup(22)(q11)\uff09\uff1a\u4f59\u5206\u306a\u67d3\u8272\u4f53\u304c\u3067\u304d\u308b\u69cb\u9020\u306e\u30bf\u30a4\u30d7\u3092\u793a\u3057\u305f\u540d\u79f0\u3067\u3059\u3002<\/li>\n\n\n<li>CES\uff1aCat Eye Syndrome\u306e\u7565\u79f0\u3067\u3001\u8ad6\u6587\u306a\u3069\u3067\u7528\u3044\u3089\u308c\u307e\u3059\u3002<\/li>\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/h2>\n\n\n\n<p><strong>\u539f\u56e0\u3068\u306a\u308b\u306e\u306f\u300122\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\uff0911\u9818\u57df\u3092\u542b\u3080\u5c0f\u3055\u306a\u4f59\u5206\u306a\u67d3\u8272\u4f53\u3067\u3059\u3002<\/strong>\u901a\u5e38\u30d2\u30c8\u306f22\u756a\u67d3\u8272\u4f53\u3092\u7236\u7531\u6765\u30fb\u6bcd\u7531\u6765\u306e2\u672c\u6301\u3063\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u306e\u75be\u60a3\u3067\u306f\u305d\u3053\u306b\u300c\u5c0f\u3055\u306a\u4f59\u5206\u306a\u67d3\u8272\u4f53\uff08\u30de\u30fc\u30ab\u30fc\u67d3\u8272\u4f53\uff09\u300d\u304c1\u672c\u52a0\u308f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u300c\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\u300d\u3068\u306f\u3069\u3046\u3044\u3046\u72b6\u614b\u304b<\/h3>\n\n\n\n<p>\u3053\u306e\u5c0f\u3055\u306a\u67d3\u8272\u4f53\u306f\u300122\u756a\u67d3\u8272\u4f53\u306e\u7aef\uff08q11\u9818\u57df\uff09\u304c\u93e1\u5408\u308f\u305b\u306e\u3088\u3046\u306b\u304f\u3063\u3064\u3044\u3066\u3067\u304d\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u30ad\u30e3\u30c3\u30c8\u30a2\u30a4\u75c7\u5019\u7fa4\u306e\u91cd\u8981\u9818\u57df\uff08CECR\uff1aCat Eye Syndrome Critical Region\uff09\u306b\u3042\u308b\u907a\u4f1d\u5b50\u304c\u3001\u901a\u5e38\u306e2\u30b3\u30d4\u30fc\u3067\u306f\u306a\u304f\u5408\u8a084\u30b3\u30d4\u30fc\u5b58\u5728\u3059\u308b\u72b6\u614b\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u300c\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u304c4\u500d\u306b\u306a\u308b\u72b6\u614b\uff08\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff09\u300d\u304c\u3001\u80ce\u5150\u671f\u306e\u4f53\u306e\u767a\u751f\u306b\u5f71\u97ff\u3057\u3001\u3055\u307e\u3056\u307e\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u306a\u304a\u3001\u4f59\u5206\u306a\u67d3\u8272\u4f53\u304c\u5168\u8eab\u3067\u306f\u306a\u304f\u4e00\u90e8\u306e\u7d30\u80de\u306b\u3060\u3051\u5b58\u5728\u3059\u308b\u300c\u30e2\u30b6\u30a4\u30af\u578b\u300d\u306e\u5834\u5408\u306f\u3001\u75c7\u72b6\u304c\u8efd\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u540c\u305822\u756a\u67d3\u8272\u4f53\u304c\u95a2\u4fc2\u3059\u308b\u75be\u60a3\u3067\u3082\u3001\u5909\u5316\u306e\u3057\u304b\u305f\u306b\u3088\u3063\u3066\u73fe\u308c\u308b\u75c7\u72b6\u306f\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u904e\u5270\u3067\u306f\u306a\u304f22\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5931\u308f\u308c\u308b\u30bf\u30a4\u30d7\u3068\u3057\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/digeorge-velocardiofacial-syndrome-catch22\/\">22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\uff09<\/a>\u304c\u3001\u5225\u306e\u4f59\u5206\u306a\u30de\u30fc\u30ab\u30fc\u67d3\u8272\u4f53\u3067\u8d77\u3053\u308b\u75be\u60a3\u3068\u3057\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/emanuel-syndrome\/\">\u30a8\u30de\u30cc\u30a8\u30eb\u75c7\u5019\u7fa4<\/a>\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u767a\u751f\u983b\u5ea6<\/h2>\n\n\n\n<p><strong>\u767a\u751f\u983b\u5ea6\u306f\u7d045\u4e07\u4eba\u301c15\u4e07\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u308b\u3001\u307e\u308c\u306a\u75be\u60a3\u3067\u3059\u3002<\/strong>\u305f\u3060\u3057\u3053\u308c\u306f\u5178\u578b\u7684\u306a\u75c7\u72b6\u3092\u3082\u3064\u60a3\u8005\u3055\u3093\u3092\u3082\u3068\u306b\u3057\u305f\u63a8\u5b9a\u5024\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30ad\u30e3\u30c3\u30c8\u30a2\u30a4\u75c7\u5019\u7fa4\u306f\u75c7\u72b6\u306e\u500b\u4eba\u5dee\u304c\u3068\u3066\u3082\u5927\u304d\u304f\u3001\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u304c\u4e4f\u3057\u3044\u8efd\u75c7\u306e\u30b1\u30fc\u30b9\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u3001\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u6f5c\u5728\u7684\u306a\u60a3\u8005\u3055\u3093\u306f\u3001\u63a8\u5b9a\u3088\u308a\u3082\u591a\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u6027\u5225\u306b\u3088\u308b\u983b\u5ea6\u306e\u5dee\u306f\u306a\u304f\u3001\u7537\u306e\u5b50\u306b\u3082\u5973\u306e\u5b50\u306b\u3082\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/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\/17245-h2-1.jpg\" alt=\"\u5c0f\u5150\u79d1\u533b\u304c\u5b50\u3069\u3082\u3092\u3084\u3055\u3057\u304f\u8a3a\u5bdf\u3059\u308b\u30a4\u30e9\u30b9\u30c8\" class=\"wp-image-17808\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17245-h2-1.jpg 1344w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17245-h2-1-300x171.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17245-h2-1-1024x585.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17245-h2-1-768x439.jpg 768w\" sizes=\"(max-width: 1344px) 100vw, 1344px\" \/><\/figure><\/div>\n\n\n<p><strong>\u300c\u773c\u306e\u30b3\u30ed\u30dc\u30fc\u30de\u300d\u300c\u8033\u524d\u90e8\u306e\u7570\u5e38\u300d\u300c\u9396\u809b\uff08\u809b\u9580\u9589\u9396\uff09\u300d\u304c\u53e4\u5178\u7684\u306a3\u5927\u5fb4\u5019\u3067\u3059\u304c\u30013\u3064\u304c\u3059\u3079\u3066\u63c3\u3046\u60a3\u8005\u3055\u3093\u306f\u5168\u4f53\u306e\u7d0440%\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/strong>\u307b\u3068\u3093\u3069\u7121\u75c7\u72b6\u306e\u65b9\u304b\u3089\u3001\u5fc3\u81d3\u3084\u814e\u81d3\u306b\u91cd\u3044\u5408\u4f75\u75c7\u3092\u3082\u3064\u65b9\u307e\u3067\u3001\u75c7\u72b6\u306e\u5e45\u304c\u975e\u5e38\u306b\u5e83\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305a\u3001\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u3068\u304a\u304a\u3088\u305d\u306e\u983b\u5ea6\u3092\u6574\u7406\u3057\u307e\u3059\u3002\u7de8\u96c6\u90e8\u3068\u3057\u3066\u3082\u3001\u300c\u732b\u306e\u76ee\u300d\u3068\u3044\u3046\u540d\u524d\u3060\u3051\u304c\u5148\u306b\u77e5\u3089\u308c\u3066\u3057\u307e\u3044\u3001\u8033\u3084\u809b\u9580\u306e\u75c7\u72b6\u304c\u898b\u843d\u3068\u3055\u308c\u3084\u3059\u3044\u70b9\u306b\u306f\u6ce8\u610f\u304c\u5fc5\u8981\u3060\u3068\u611f\u3058\u3066\u3044\u307e\u3059\u3002\u540d\u524d\u306e\u7531\u6765\u3067\u3042\u308b\u773c\u306e\u75c7\u72b6\u3088\u308a\u3082\u3001\u8033\u3084\u809b\u9580\u306e\u75c7\u72b6\u306e\u307b\u3046\u304c\u9ad8\u3044\u983b\u5ea6\u3067\u898b\u3089\u308c\u308b\u70b9\u304c\u3001\u3053\u306e\u75be\u60a3\u3092\u7406\u89e3\u3059\u308b\u9375\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u4e3b\u306a\u75c7\u72b6<\/th><th>\u90e8\u4f4d<\/th><th>\u304a\u304a\u3088\u305d\u306e\u983b\u5ea6<\/th><\/tr><\/thead><tbody><tr><td>\u8033\u524d\u90e8\u30bf\u30b0\u30fb\u8033\u524d\u90e8\u763b\u5b54\u306a\u3069\u306e\u8033\u306e\u7570\u5e38<\/td><td>\u8033<\/td><td>\u7d0480\u301c90%<\/td><\/tr><tr><td>\u9396\u809b\uff08\u809b\u9580\u9589\u9396\u75c7\uff09<\/td><td>\u6d88\u5316\u5668<\/td><td>\u7d0470\u301c80%<\/td><\/tr><tr><td>\u8679\u5f69\u30b3\u30ed\u30dc\u30fc\u30de\u306a\u3069\u306e\u773c\u306e\u75c7\u72b6<\/td><td>\u773c<\/td><td>\u7d0450\u301c60%<\/td><\/tr><tr><td>\u5148\u5929\u6027\u5fc3\u75be\u60a3<\/td><td>\u5fc3\u81d3<\/td><td>\u7d0450\u301c60%<\/td><\/tr><tr><td>3\u5927\u5fb4\u5019\u304c\u3059\u3079\u3066\u63c3\u3046<\/td><td>\u5168\u8eab<\/td><td>\u7d0440%<\/td><\/tr><tr><td>\u814e\u30fb\u5c3f\u8def\u306e\u5f62\u614b\u7570\u5e38<\/td><td>\u814e\u81d3<\/td><td>\u4e00\u90e8\u306e\u60a3\u8005\u3055\u3093<\/td><\/tr><\/tbody><\/table><figcaption class=\"wp-element-caption\">\u75c7\u72b6\u3068\u304a\u304a\u3088\u305d\u306e\u983b\u5ea6\uff08\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u305f\u3081\u3001\u3042\u304f\u307e\u3067\u76ee\u5b89\u3067\u3059\uff09<\/figcaption><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\">1. \u773c\u306e\u75c7\u72b6<\/h3>\n\n\n\n<p>\u75be\u60a3\u540d\u306e\u7531\u6765\u3068\u306a\u3063\u305f\u7279\u5fb4\u3067\u3059\u304c\u3001\u5168\u54e1\u306b\u898b\u3089\u308c\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001<strong>\u7d0450\u301c60%<\/strong>\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8679\u5f69\u30b3\u30ed\u30dc\u30fc\u30de\uff1a\u8679\u5f69\uff08\u8336\u76ee\uff09\u306e\u4e00\u90e8\u304c\u6b20\u3051\u3066\u3001\u77b3\u5b54\u304c\u9375\u7a74\u306e\u3088\u3046\u306a\u5f62\u3001\u3042\u308b\u3044\u306f\u732b\u306e\u76ee\uff08\u7e26\u9577\uff09\u306e\u3088\u3046\u306b\u898b\u3048\u308b\u72b6\u614b\u3067\u3059\u3002\u901a\u5e38\u306f\u8679\u5f69\u306e\u4e0b\u5074\u304c\u6b20\u3051\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n<li>\u8108\u7d61\u819c\u30fb\u7db2\u819c\u30b3\u30ed\u30dc\u30fc\u30de\uff1a\u5916\u898b\u3067\u306f\u308f\u304b\u308a\u307e\u305b\u3093\u304c\u3001\u773c\u306e\u5965\uff08\u7db2\u819c\u3084\u8108\u7d61\u819c\uff09\u306b\u6b20\u640d\u304c\u53ca\u3076\u3053\u3068\u304c\u3042\u308a\u3001\u8996\u91ce\u306e\u4e00\u90e8\u304c\u6b20\u3051\u305f\u308a\u8996\u529b\u304c\u4f4e\u4e0b\u3057\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n<li>\u305d\u306e\u307b\u304b\u3001\u659c\u8996\u3001\u5c0f\u773c\u7403\u75c7\u3001\u7247\u773c\u3060\u3051\u306e\u7570\u5e38\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">2. \u8033\u306e\u75c7\u72b6<\/h3>\n\n\n\n<p>\u773c\u306e\u75c7\u72b6\u3088\u308a\u3082\u9ad8\u3044\u983b\u5ea6\uff08<strong>\u7d0480\u301c90%<\/strong>\uff09\u3067\u898b\u3089\u308c\u3001\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u3068\u3057\u3066\u975e\u5e38\u306b\u91cd\u8981\u306a\u30b5\u30a4\u30f3\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8033\u524d\u90e8\u30bf\u30b0\uff1a\u8033\u306e\u7a74\u306e\u524d\uff08\u9854\u5074\uff09\u306b\u3042\u308b\u5c0f\u3055\u306a\u76ae\u819a\u306e\u7a81\u8d77\u3067\u3001\u7247\u5074\u3060\u3051\u306e\u3053\u3068\u3082\u4e21\u5074\u306e\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n<li>\u8033\u524d\u90e8\u763b\u5b54\uff1a\u8033\u306e\u524d\u306b\u5c0f\u3055\u306a\u7a74\u304c\u958b\u3044\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n<li>\u8033\u4ecb\u306e\u5909\u5f62\uff1a\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u304c\u5c0f\u3055\u3044\u3001\u5f62\u304c\u5909\u5f62\u3057\u3066\u3044\u308b\u306a\u3069\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n<li>\u5916\u8033\u9053\u9589\u9396\uff1a\u307e\u308c\u306b\u8033\u306e\u7a74\u304c\u585e\u304c\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u4f1d\u97f3\u6027\u96e3\u8074\u306e\u539f\u56e0\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">3. \u6d88\u5316\u5668\u306e\u75c7\u72b6<\/h3>\n\n\n\n<p>\u9396\u809b\uff08\u809b\u9580\u9589\u9396\u75c7\uff09\u306f<strong>\u7d0470\u301c80%<\/strong>\u306b\u898b\u3089\u308c\u308b\u9ad8\u983b\u5ea6\u306e\u5408\u4f75\u75c7\u3067\u3001\u51fa\u751f\u76f4\u5f8c\u306e\u5bfe\u5fdc\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u751f\u307e\u308c\u3064\u304d\u809b\u9580\u304c\u958b\u3044\u3066\u3044\u306a\u3044\u3001\u72ed\u3044\u3001\u4f4d\u7f6e\u304c\u305a\u308c\u3066\u3044\u308b\u3068\u3044\u3063\u305f\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n<li>\u76f4\u8178\u304c\u5c3f\u9053\u3084\u81a3\u3068\u3064\u306a\u304c\u308b\uff08\u763b\u5b54\uff09\u30bf\u30a4\u30d7\u3082\u3042\u308a\u3001\u51fa\u751f\u76f4\u5f8c\u306b\u7dca\u6025\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">4. \u5fc3\u81d3\u30fb\u814e\u81d3\u306e\u75c7\u72b6<\/h3>\n\n\n\n<p>\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306f<strong>\u7d0450\u301c60%<\/strong>\u306b\u5408\u4f75\u3057\u3001\u751f\u547d\u4e88\u5f8c\u3092\u5de6\u53f3\u3059\u308b\u91cd\u8981\u306a\u8981\u7d20\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u81d3\uff1a\u7dcf\u80ba\u9759\u8108\u9084\u6d41\u7570\u5e38\u75c7\uff08TAPVR\uff09\u3084\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\uff08TOF\uff09\u3068\u3044\u3063\u305f\u8907\u96d1\u306a\u5fc3\u5947\u5f62\u304b\u3089\u3001\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u306a\u3069\u306e\u4e00\u822c\u7684\u306a\u3082\u306e\u307e\u3067\u3055\u307e\u3056\u307e\u3067\u3059\u3002<\/li>\n\n\n<li>\u814e\u81d3\u30fb\u5c3f\u8def\uff1a\u814e\u7121\u5f62\u6210\uff08\u7247\u65b9\u306e\u814e\u81d3\u304c\u306a\u3044\uff09\u3001\u814e\u4f4e\u5f62\u6210\uff08\u5c0f\u3055\u3044\uff09\u3001\u6c34\u814e\u75c7\u306a\u3069\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">5. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/h3>\n\n\n\n<p><strong>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306f\u77e5\u7684\u767a\u9054\u304c\u8efd\u5ea6\u306e\u9045\u308c\u3001\u3042\u308b\u3044\u306f\u6b63\u5e38\u7bc4\u56f2\u3067\u3042\u308a\u3001\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u5e0c\u671b\u3068\u306a\u308b\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/strong>13\u30c8\u30ea\u30bd\u30df\u30fc\u308418\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\u3001\u307b\u304b\u306e\u67d3\u8272\u4f53\u75be\u60a3\u3068\u5927\u304d\u304f\u7570\u306a\u308b\u70b9\u3067\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u306f\u307e\u308c\u3067\u3059\u304c\u3001\u91cd\u3044\u5fc3\u75be\u60a3\u306a\u3069\u306e\u5408\u4f75\u75c7\u3084\u6cbb\u7642\u7d4c\u904e\u306b\u3088\u3063\u3066\u767a\u9054\u306b\u5f71\u97ff\u304c\u51fa\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n<li>\u904b\u52d5\u3084\u8a00\u8449\u306e\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u306b\u306a\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u6642\u9593\u3092\u304b\u3051\u3066\u5c11\u3057\u305a\u3064\u7372\u5f97\u3057\u3066\u3044\u304f\u304a\u5b50\u3055\u3093\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">6. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9aa8\u683c\uff1a\u5074\u5f2f\u75c7\u3001\u534a\u690e\u4f53\u3001\u6a48\u9aa8\uff08\u8155\u306e\u9aa8\uff09\u306e\u7570\u5e38\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n<li>\u6210\u9577\uff1a\u5c0f\u67c4\u306a\u4f53\u683c\uff08\u4f4e\u8eab\u9577\uff09\u3067\u3042\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n<li>\u9854\u3064\u304d\uff1a\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3001\u5185\u773c\u89d2\u8d05\u76ae\uff08\u76ee\u982d\u306e\u3072\u3060\uff09\u306a\u3069\u3001\u8efd\u5ea6\u306e\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\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\/17245-h2-2.jpg\" alt=\"22\u756a\u67d3\u8272\u4f53\u3068DNA\u4e8c\u91cd\u3089\u305b\u3093\u3092\u8868\u3057\u305f\u56f3\u89e3\" class=\"wp-image-17809\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17245-h2-2.jpg 1344w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17245-h2-2-300x171.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17245-h2-2-1024x585.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17245-h2-2-768x439.jpg 768w\" sizes=\"(max-width: 1344px) 100vw, 1344px\" \/><\/figure><\/div>\n\n\n<p><strong>\u539f\u56e0\u306f\u300122\u756a\u67d3\u8272\u4f53\u306b\u7531\u6765\u3059\u308b\u300c\u904e\u5270\u306a\u30de\u30fc\u30ab\u30fc\u67d3\u8272\u4f53\u300d\u3067\u3059\u3002<\/strong>22\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\uff09\u3068\u9577\u8155\u306e\u3054\u304f\u4e00\u90e8\uff08q11.1\uff09\u304c\u5207\u308a\u53d6\u3089\u308c\u30012\u672c\u304f\u3063\u3064\u3044\u3066\uff08\u9006\u4f4d\u91cd\u8907\u3057\u3066\uff09\u5c0f\u3055\u306a\u68d2\u72b6\u3084\u8f2a\u72b6\u306b\u306a\u3063\u305f\u3082\u306e\u3067\u3001\u5c02\u9580\u7684\u306b\u306f\u4e8c\u52d5\u539f\u4f53\u67d3\u8272\u4f53\u306a\u3069\u3068\u547c\u3070\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u306a\u305c\u8d77\u3053\u308b\u306e\u304b<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>de novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\uff1a\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306f\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u304c\u6b63\u5e38\u3067\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u3064\u304f\u3089\u308c\u308b\u904e\u7a0b\u3067\u5076\u7136\u751f\u3058\u305f\u5909\u5316\u3067\u3059\u3002<\/li>\n\n\n<li>\u5bb6\u65cf\u6027\uff1a\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u540c\u3058\u30de\u30fc\u30ab\u30fc\u67d3\u8272\u4f53\u3092\u30e2\u30b6\u30a4\u30af\u578b\u3067\u3082\u3063\u3066\u3044\u308b\uff08\u75c7\u72b6\u304c\u306a\u3044\u3001\u307e\u305f\u306f\u8efd\u5fae\uff09\u5834\u5408\u306b\u3001\u89aa\u304b\u3089\u5b50\u3078\u53d7\u3051\u7d99\u304c\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n<\/ul>\n\n\n\n<p>\u75c7\u72b6\u306b\u500b\u4eba\u5dee\u304c\u751f\u3058\u308b\u7406\u7531\u306f\u5b8c\u5168\u306b\u306f\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u30de\u30fc\u30ab\u30fc\u67d3\u8272\u4f53\u306e\u5927\u304d\u3055\u306e\u9055\u3044\u3084\u3001\u30de\u30fc\u30ab\u30fc\u3092\u3082\u3064\u7d30\u80de\u306e\u5272\u5408\uff08\u30e2\u30b6\u30a4\u30af\u7387\uff09\u306e\u9055\u3044\u304c\u95a2\u4fc2\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u306a\u304a\u300122\u756a\u67d3\u8272\u4f53\u306e\u5909\u5316\u3067\u8d77\u3053\u308b\u5225\u306e\u75be\u60a3\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/22q13-deletion-syndrome\/\">22q13\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u306a\u3069\u3082\u3042\u308a\u3001\u300c\u3069\u306e\u9818\u57df\u304c\u300d\u300c\u904e\u5270\u304b\u6b20\u5931\u304b\u300d\u3067\u75c7\u72b6\u306f\u5927\u304d\u304f\u5909\u308f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u8a3a\u65ad\u65b9\u6cd5<\/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\/17245-h2-3.jpg\" alt=\"\u9855\u5fae\u93e1\u3067\u691c\u4f53\u3092\u89b3\u5bdf\u3059\u308b\u691c\u67fb\u6280\u5e2b\u306e\u30a4\u30e9\u30b9\u30c8\" class=\"wp-image-17810\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17245-h2-3.jpg 1344w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17245-h2-3-300x171.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17245-h2-3-1024x585.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17245-h2-3-768x439.jpg 768w\" sizes=\"(max-width: 1344px) 100vw, 1344px\" \/><\/figure><\/div>\n\n\n<p><strong>\u300c\u8033\u306e\u524d\u306e\u7a81\u8d77\u300d\u300c\u9396\u809b\u300d\u300c\u30b3\u30ed\u30dc\u30fc\u30de\u300d\u306a\u3069\u306e\u75c7\u72b6\u304b\u3089\u7591\u3044\u3001\u67d3\u8272\u4f53\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/strong>\u5916\u898b\u306e\u7279\u5fb4\u3060\u3051\u3067\u78ba\u5b9a\u306f\u3067\u304d\u306a\u3044\u305f\u3081\u3001\u907a\u4f1d\u5b66\u7684\u306a\u691c\u67fb\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u5206\u67d3\u6cd5\uff09\uff1a\u6838\u578b\u5206\u6790\u3092\u884c\u3046\u3068\u300146\u672c\u306e\u67d3\u8272\u4f53\u306b\u52a0\u3048\u3066\u5c0f\u3055\u306a\u300c47\u672c\u76ee\u306e\u67d3\u8272\u4f53\uff08\u30de\u30fc\u30ab\u30fc\u67d3\u8272\u4f53\uff09\u300d\u304c\u898b\u3064\u304b\u308a\u300147,XX,+mar \u307e\u305f\u306f 47,XY,+mar \u3068\u8868\u8a18\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n<li>FISH\u6cd5\u30fb\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\uff1a\u305d\u306e\u30de\u30fc\u30ab\u30fc\u67d3\u8272\u4f53\u304c22\u756a\u7531\u6765\u3067\u3001\u304b\u3064\u91cd\u8907\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u3053\u3053\u3067\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n<li>\u5168\u8eab\u306e\u7cbe\u67fb\uff1a\u8a3a\u65ad\u304c\u3064\u3044\u305f\u3089\u3001\u7121\u75c7\u72b6\u3067\u3042\u3063\u3066\u3082\u5fc3\u30a8\u30b3\u30fc\uff08\u5fc3\u75be\u60a3\uff09\u3001\u8179\u90e8\u30a8\u30b3\u30fc\uff08\u814e\u81d3\uff09\u3001\u773c\u79d1\u691c\u67fb\uff08\u7db2\u819c\u30b3\u30ed\u30dc\u30fc\u30de\uff09\u3001\u8074\u529b\u691c\u67fb\uff08\u96e3\u8074\uff09\u306a\u3069\u3067\u5168\u8eab\u3092\u8abf\u3079\u307e\u3059\u3002<\/li>\n\n<\/ul>\n\n\n\n<p>\u30de\u30fc\u30ab\u30fc\u67d3\u8272\u4f53\u304c\u4f59\u5206\u306b\u52a0\u308f\u3063\u3066\u8d77\u3053\u308b\u3068\u3044\u3046\u70b9\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/tetrasomy-18p-syndrome\/\">18p\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\u75c7\u5019\u7fa4<\/a>\u306e\u3088\u3046\u306b\u300c\u4f59\u5206\u306a\u67d3\u8272\u4f53\uff08\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\uff09\u300d\u3067\u767a\u75c7\u3059\u308b\u75be\u60a3\u3068\u5171\u901a\u3057\u3066\u304a\u308a\u3001\u3069\u306e\u67d3\u8272\u4f53\u304c\u7531\u6765\u304b\u3092\u898b\u6975\u3081\u308b\u3053\u3068\u304c\u8a3a\u65ad\u306e\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u65b9\u6cd5<\/h2>\n\n\n\n<p><strong>\u904e\u5270\u306a\u67d3\u8272\u4f53\u3092\u53d6\u308a\u9664\u304f\u6cbb\u7642\u6cd5\u306f\u306a\u304f\u3001\u75c7\u72b6\u3054\u3068\u306e\u5bfe\u75c7\u7642\u6cd5\uff08\u7279\u306b\u5916\u79d1\u624b\u8853\uff09\u3068\u767a\u9054\u3092\u652f\u3048\u308b\u7642\u80b2\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/strong>\u751f\u547d\u4e88\u5f8c\u306f\u91cd\u3044\u5fc3\u75be\u60a3\u306e\u6709\u7121\u306b\u5927\u304d\u304f\u5de6\u53f3\u3055\u308c\u307e\u3059\u304c\u3001\u9069\u5207\u306a\u6cbb\u7642\u3092\u884c\u3048\u3070\u4e88\u5f8c\u306f\u6bd4\u8f03\u7684\u826f\u597d\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u5916\u79d1\u7684\u6cbb\u7642\uff08\u65b0\u751f\u5150\u671f\u301c\u4e73\u5150\u671f\uff09<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9396\u809b\u306e\u624b\u8853\uff1a\u51fa\u751f\u76f4\u5f8c\u306b\u4eba\u5de5\u809b\u9580\uff08\u30b9\u30c8\u30fc\u30de\uff09\u3092\u4f5c\u308a\u3001\u4f53\u304c\u5927\u304d\u304f\u306a\u3063\u3066\u304b\u3089\u809b\u9580\u3092\u4f5c\u308b\u6839\u6cbb\u624b\u8853\u3092\u884c\u3046\u306e\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u5c0f\u5150\u5916\u79d1\u533b\u306b\u3088\u308b\u9577\u671f\u7684\u306a\u6392\u4fbf\u7ba1\u7406\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n<li>\u5fc3\u75be\u60a3\u306e\u624b\u8853\uff1aTAPVR\u3084TOF\u306a\u3069\u306e\u91cd\u3044\u5fc3\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5fc3\u81d3\u8840\u7ba1\u5916\u79d1\u306b\u3088\u308b\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n<li>\u8033\u524d\u90e8\u30bf\u30b0\u306e\u5207\u9664\uff1a\u5fc5\u9808\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u898b\u305f\u76ee\u3084\u5f15\u3063\u304b\u304b\u308a\u3084\u3059\u3055\u3092\u8003\u3048\u3066\u5f62\u6210\u5916\u79d1\u3067\u5207\u9664\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u773c\u79d1\u7684\u30b1\u30a2\u30fb\u767a\u9054\u652f\u63f4<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8996\u529b\u7ba1\u7406\uff1a\u7db2\u819c\u30b3\u30ed\u30dc\u30fc\u30de\u306b\u3088\u308b\u8996\u529b\u4f4e\u4e0b\u304c\u3042\u308c\u3070\u3001\u773c\u93e1\u306b\u3088\u308b\u77ef\u6b63\u3084\u5f31\u8996\u8a13\u7df4\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n<li>\u906e\u5149\uff1a\u8679\u5f69\u30b3\u30ed\u30dc\u30fc\u30de\u3067\u7729\u3057\u3055\uff08\u7f9e\u660e\uff09\u3092\u611f\u3058\u3084\u3059\u3044\u5834\u5408\u306f\u3001\u906e\u5149\u773c\u93e1\u3084\u3064\u3070\u306e\u5e83\u3044\u5e3d\u5b50\u3067\u4e0d\u5feb\u611f\u3092\u3084\u308f\u3089\u3052\u307e\u3059\u3002<\/li>\n\n\n<li>\u65e9\u671f\u7642\u80b2\uff1a\u767a\u9054\u306e\u9045\u308c\u304c\u6c17\u306b\u306a\u308b\u3068\u304d\u306f\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u30fb\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u30fb\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u65e9\u3081\u306b\u59cb\u3081\u307e\u3059\u3002<\/li>\n\n\n<li>\u6559\u80b2\uff1a\u77e5\u7684\u969c\u5bb3\u306f\u8efd\u5ea6\u301c\u6b63\u5e38\u7bc4\u56f2\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u901a\u5e38\u5b66\u7d1a\u306b\u901a\u3046\u304a\u5b50\u3055\u3093\u3082\u591a\u304f\u3044\u307e\u3059\u3002<\/li>\n\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u5065\u5eb7\u7ba1\u7406\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/h3>\n\n\n\n<p>\u5fc3\u75be\u60a3\u3084\u814e\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u30ef\u30af\u30c1\u30f3\u63a5\u7a2e\u3084\u611f\u67d3\u5bfe\u7b56\u3092\u5fb9\u5e95\u3057\u3001\u5b9a\u671f\u7684\u306a\u5c3f\u30fb\u8840\u6db2\u691c\u67fb\u3067\u814e\u6a5f\u80fd\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u3001\u67d3\u8272\u4f53\u691c\u67fb\u306e\u7d50\u679c\u306e\u610f\u5473\u3092\u308f\u304b\u308a\u3084\u3059\u304f\u8aac\u660e\u3057\u3001\u4e21\u89aa\u306e\u691c\u67fb\u3092\u884c\u3046\u304b\u3069\u3046\u304b\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u907a\u4f1d\u30ea\u30b9\u30af\u3001\u898b\u305f\u76ee\u306e\u60a9\u307f\u3078\u306e\u5fc3\u7406\u7684\u306a\u30b1\u30a2\u307e\u3067\u3092\u4e00\u7dd2\u306b\u8003\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/\">\u907a\u4f1d\u5b50\u691c\u67fb\u30fb\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">\u30ad\u30e3\u30c3\u30c8\u30a2\u30a4\u75c7\u5019\u7fa4\uff08\u732b\u76ee\u75c7\u5019\u7fa4\uff09\u3068\u306f\u3069\u3093\u306a\u75c5\u6c17\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>\u30ad\u30e3\u30c3\u30c8\u30a2\u30a4\u75c7\u5019\u7fa4\u306f\u300122\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u904e\u5270\u306b\u306a\u308a\u3001\u4f59\u5206\u306a\u5c0f\u3055\u306a\u67d3\u8272\u4f53\uff08\u30de\u30fc\u30ab\u30fc\u67d3\u8272\u4f53\uff09\u304c\u52a0\u308f\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u5148\u5929\u6027\u306e\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002\u773c\u30fb\u8033\u30fb\u809b\u9580\u30fb\u5fc3\u81d3\u30fb\u814e\u81d3\u306a\u3069\u306b\u591a\u5f69\u306a\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u304c\u3001\u75c7\u72b6\u306e\u91cd\u3055\u306b\u306f\u975e\u5e38\u306b\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 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class=\"wp-block-heading\">\u307e\u3068\u3081<\/h2>\n\n\n\n<p><strong>\u30ad\u30e3\u30c3\u30c8\u30a2\u30a4\u75c7\u5019\u7fa4\uff08\u732b\u76ee\u75c7\u5019\u7fa4\uff09\u306f\u300122\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u75c7\u72b6\u306e\u500b\u4eba\u5dee\u304c\u3068\u3066\u3082\u5927\u304d\u3044\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002<\/strong>\u300c\u732b\u306e\u76ee\u300d\u3068\u3044\u3046\u540d\u524d\u304b\u3089\u76ee\u306e\u75c5\u6c17\u3068\u601d\u308f\u308c\u304c\u3061\u3067\u3059\u304c\u3001\u5b9f\u969b\u306b\u306f\u8033\u306e\u524d\u306e\u7a81\u8d77\u3084\u9396\u809b\u306e\u307b\u3046\u304c\u9ad8\u983b\u5ea6\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u751f\u307e\u308c\u305f\u3070\u304b\u308a\u306e\u304a\u5b50\u3055\u3093\u306b\u624b\u8853\u304c\u5fc5\u8981\u3068\u8a00\u308f\u308c\u305f\u308a\u3001\u67d3\u8272\u4f53\u306e\u5909\u5316\u304c\u898b\u3064\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u306f\u3001\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u5927\u304d\u306a\u4e0d\u5b89\u3092\u3082\u305f\u3089\u3057\u307e\u3059\u3002\u305d\u308c\u3067\u3082\u3001\u3053\u306e\u75be\u60a3\u306b\u4f34\u3046\u9396\u809b\u3084\u5fc3\u75be\u60a3\u306e\u591a\u304f\u306f\u73fe\u4ee3\u306e\u533b\u7642\u3067\u6cbb\u7642\u53ef\u80fd\u3067\u3001\u773c\u306e\u30b3\u30ed\u30dc\u30fc\u30de\u304c\u3042\u3063\u3066\u3082\u9069\u5207\u306a\u30b1\u30a2\u3067\u65e5\u5e38\u751f\u6d3b\u306b\u652f\u969c\u304c\u306a\u3044\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4f55\u3088\u308a\u3001\u77e5\u7684\u767a\u9054\u306b\u3064\u3044\u3066\u306f\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u304c\u3086\u3063\u304f\u308a\u3067\u3082\u8a00\u8449\u3092\u899a\u3048\u3001\u5b66\u6821\u306b\u901a\u3044\u3001\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u307e\u3059\u3002\u5c0f\u5150\u5916\u79d1\u533b\u30fb\u773c\u79d1\u533b\u30fb\u5faa\u74b0\u5668\u306e\u5c02\u9580\u533b\u3001\u305d\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u4e00\u3064\u3072\u3068\u3064\u306e\u75c7\u72b6\u3092\u4e01\u5be7\u306b\u30b1\u30a2\u3057\u306a\u304c\u3089\u3001\u304a\u5b50\u3055\u3093\u306e\u6210\u9577\u3092\u652f\u3048\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002\u79c1\u305f\u3061\u306f\u3001\u6b63\u78ba\u3067\u308f\u304b\u308a\u3084\u3059\u3044\u60c5\u5831\u3053\u305d\u304c\u3001\u3054\u5bb6\u65cf\u306e\u4e0d\u5b89\u3092\u3084\u308f\u3089\u3052\u308b\u7b2c\u4e00\u6b69\u3060\u3068\u8003\u3048\u3066\u3044\u307e\u3059\u3002\u691c\u67fb\u7d50\u679c\u306e\u610f\u5473\u3084\u6b21\u306b\u3068\u308b\u3079\u304d\u5bfe\u5fdc\u306b\u8ff7\u3063\u305f\u3068\u304d\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/\">\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u5185\u5bb9\u3092\u8a73\u3057\u304f\u898b\u308b<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6771\u4eac\u5973\u5b50\u533b\u79d1\u5927\u5b66\u30b2\u30ce\u30e0\u8a3a\u7642\u79d1\u300c22q\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\u75c7\u5019\u7fa4\uff08Cat-eye\u75c7\u5019\u7fa4\uff09\u300d<a href=\"https:\/\/www.cma-search.jp\/disease-info-pro\/disease-info-pro53\/\" target=\"_blank\" rel=\"noopener\">https:\/\/www.cma-search.jp\/disease-info-pro\/disease-info-pro53\/<\/a><\/li>\n\n\n<li>Orphanet: Cat eye syndrome\uff08ORPHA:195\uff09<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/195\" target=\"_blank\" rel=\"noopener\">https:\/\/www.orpha.net\/en\/disease\/detail\/195<\/a><\/li>\n\n\n<li>OMIM: Cat Eye Syndrome; CES\uff08#115470\uff09<a href=\"https:\/\/omim.org\/entry\/115470\" target=\"_blank\" rel=\"noopener\">https:\/\/omim.org\/entry\/115470<\/a><\/li>\n\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n\n\n\n<script type=\"application\/ld+json\">{\"@context\": \"https:\/\/schema.org\", \"@type\": \"FAQPage\", \"mainEntity\": [{\"@type\": \"Question\", \"name\": \"\u30ad\u30e3\u30c3\u30c8\u30a2\u30a4\u75c7\u5019\u7fa4\uff08\u732b\u76ee\u75c7\u5019\u7fa4\uff09\u3068\u306f\u3069\u3093\u306a\u75c5\u6c17\u3067\u3059\u304b\uff1f\", \"acceptedAnswer\": {\"@type\": \"Answer\", \"text\": 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