{"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":"2026-01-22T00:27:21","modified_gmt":"2026-01-22T00:27:21","slug":"cat-eye-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/cat-eye-syndrome\/","title":{"rendered":"Cat eye 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>\u30b7\u30e5\u30df\u30c3\u30c8\u30fb\u30d5\u30e9\u30c3\u30ab\u30ed\u75c7\u5019\u7fa4\uff08Schmid-Fraccaro syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b1965\u5e74\u306b\u3053\u306e\u75be\u60a3\u306e\u67d3\u8272\u4f53\u7570\u5e38\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u78ba\u7acb\u3057\u305fSchmid\u535a\u58eb\u3068Fraccaro\u535a\u58eb\u306b\u3061\u306a\u3093\u3060\u3001\u533b\u5b66\u7684\u306b\u6b63\u5f0f\u306a\u5225\u540d\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u90e8\u5206\u768422q\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\uff08Partial tetrasomy 22q\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u907a\u4f1d\u5b66\u7684\u306a\u72b6\u614b\u3092\u6b63\u78ba\u306b\u8868\u3057\u305f\u540d\u79f0\u3067\u3059\u3002\u300c22\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c4\u672c\u3042\u308b\uff08\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\uff09\u300d\u3068\u3044\u3046\u610f\u5473\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>22\u756a\u67d3\u8272\u4f53\u9006\u4f4d\u91cd\u8907\uff08Inv dup(22)(q11)\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u67d3\u8272\u4f53\u306e\u69cb\u9020\u7570\u5e38\u306e\u30bf\u30a4\u30d7\u3092\u793a\u3057\u305f\u540d\u79f0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>CES\uff08\u7565\u79f0\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>22\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0911\u9818\u57df<\/p>\n\n\n\n<p>\uff0822pter-22q11\uff09<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e22\u756a\u67d3\u8272\u4f53\u306e\u7279\u5b9a\u306e\u90e8\u5206\uff08\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\u304b\u3089q11.1\u3068\u547c\u3070\u308c\u308b\u9818\u57df\u307e\u3067\uff09\u304c\u3001\u901a\u5e38\u306e2\u672c\u3067\u306f\u306a\u304f\u3001**\u300c\u904e\u5270\u306a\u5c0f\u3055\u306a\u67d3\u8272\u4f53\uff08\u30de\u30fc\u30ab\u30fc\u67d3\u8272\u4f53\uff09\u300d**\u3068\u3057\u3066\u4f59\u5206\u306b\u5b58\u5728\u3059\u308b\u3053\u3068\u3067\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u300c\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\u300d\u306e\u610f\u5473\u3011<\/p>\n\n\n\n<p>\u3053\u3053\u304c\u5c11\u3057\u8907\u96d1\u3067\u3059\u304c\u3001\u672c\u75be\u60a3\u3092\u7406\u89e3\u3059\u308b\u4e0a\u3067\u6700\u3082\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u901a\u5e38\u3001\u30d2\u30c8\u306f22\u756a\u67d3\u8272\u4f53\u30922\u672c\u6301\u3063\u3066\u3044\u307e\u3059\uff08\u7236\u7531\u6765\u30fb\u6bcd\u7531\u6765\uff09\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001Cat eye syndrome\u306e\u60a3\u8005\u3055\u3093\u306f\u3001\u3053\u306e2\u672c\u306e\u6b63\u5e38\u306a22\u756a\u67d3\u8272\u4f53\u306b\u52a0\u3048\u3066\u3001**\u300c\u5c0f\u3055\u306a\u4f59\u5206\u306a\u67d3\u8272\u4f53\uff08Supernumerary Marker Chromosome; sSMC\uff09\u300d**\u30921\u672c\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u5c0f\u3055\u306a\u67d3\u8272\u4f53\u306f\u300122\u756a\u67d3\u8272\u4f53\u306e\u7aef\u3063\u3053\uff08q11\u9818\u57df\uff09\u304c\u93e1\u5408\u308f\u305b\u306e\u3088\u3046\u306b\u304f\u3063\u3064\u3044\u3066\uff08\u9006\u4f4d\u91cd\u8907\uff09\u3067\u304d\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3064\u307e\u308a\u3001\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u9818\u57df\uff08CECR\uff1aCat Eye Syndrome Critical Region\uff09\u304c\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b63\u5e38\u306a22\u756a\u67d3\u8272\u4f53\uff082\u672c\uff09 \uff0b \u30de\u30fc\u30ab\u30fc\u67d3\u8272\u4f53\u306b\u542b\u307e\u308c\u308b2\u672c\u5206 \uff1d <strong>\u5408\u8a084\u30b3\u30d4\u30fc\uff08\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\uff09<\/strong><\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u300c\u907a\u4f1d\u5b50\u304c4\u500d\u3042\u308b\u72b6\u614b\uff08\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff09\u300d\u304c\u3001\u4f53\u306e\u767a\u751f\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u3001\u69d8\u3005\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u203b\u7a00\u306b\u3001\u30de\u30fc\u30ab\u30fc\u67d3\u8272\u4f53\u304c\u5168\u8eab\u306e\u7d30\u80de\u3067\u306f\u306a\u304f\u4e00\u90e8\u306e\u7d30\u80de\u306b\u306e\u307f\u5b58\u5728\u3059\u308b\u300c\u30e2\u30b6\u30a4\u30af\u578b\u300d\u306e\u30b1\u30fc\u30b9\u3082\u3042\u308a\u3001\u305d\u306e\u5834\u5408\u306f\u75c7\u72b6\u304c\u8efd\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u7a00\uff08Rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u7d0450,000\u4eba \u301c 150,000\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u3053\u308c\u306f\u300c\u5178\u578b\u7684\u306a\u75c7\u72b6\u3092\u6301\u3064\u60a3\u8005\u6570\u300d\u306b\u57fa\u3065\u3044\u305f\u63a8\u5b9a\u3067\u3059\u3002\u672c\u75be\u60a3\u306f\u75c7\u72b6\u306e\u500b\u4eba\u5dee\u304c\u6975\u3081\u3066\u5927\u304d\u304f\u3001\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u304c\u4e4f\u3057\u3044\u8efd\u75c7\u4f8b\uff08\u4e0d\u5168\u578b\uff09\u3082\u591a\u304f\u5b58\u5728\u3059\u308b\u305f\u3081\u3001\u5b9f\u969b\u306b\u306f\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u6f5c\u5728\u7684\u306a\u60a3\u8005\u3055\u3093\u304c\u3082\u3063\u3068\u591a\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6027\u5225\u306b\u3088\u308b\u767a\u751f\u983b\u5ea6\u306e\u5dee\u306f\u306a\u304f\u3001\u7537\u5150\u306b\u3082\u5973\u5150\u306b\u3082\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>Cat eye syndrome\u306e\u75c7\u72b6\u306f\u3001\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\u306e3\u3064\u304c\u53e4\u5178\u7684\u306a3\u5927\u5fb4\u5019\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u308c\u3089\u304c\u5168\u3066\u63c3\u3046\u60a3\u8005\u3055\u3093\u306f\u5168\u4f53\u306e\u7d0440%\u7a0b\u5ea6\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5168\u304f\u7121\u75c7\u72b6\u306b\u8fd1\u3044\u65b9\u304b\u3089\u3001\u5fc3\u81d3\u3084\u814e\u81d3\u306b\u91cd\u3044\u5408\u4f75\u75c7\u3092\u6301\u3064\u65b9\u307e\u3067\u3001\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff08\u5e45\uff09\u304c\u975e\u5e38\u306b\u5e83\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u773c\u306e\u75c7\u72b6\uff08Ocular features\uff09<\/strong><\/p>\n\n\n\n<p>\u75be\u60a3\u540d\u306e\u7531\u6765\u3068\u306a\u3063\u305f\u7279\u5fb4\u3067\u3059\u304c\u3001\u5fc5\u305a\u3057\u3082\u5168\u54e1\u306b\u898b\u3089\u308c\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\uff08\u7d0450\u301c60%\uff09\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8679\u5f69\u30b3\u30ed\u30dc\u30fc\u30de\uff08Iris coloboma\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8679\u5f69\uff08\u8336\u76ee\uff09\u306e\u4e00\u90e8\u304c\u6b20\u3051\u3066\u304a\u308a\u3001\u77b3\u5b54\u304c\u9375\u7a74\u306e\u3088\u3046\u306a\u5f62\u3001\u3042\u308b\u3044\u306f**\u300c\u732b\u306e\u76ee\uff08\u7e26\u9577\uff09\u300d**\u306e\u3088\u3046\u306b\u898b\u3048\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u901a\u5e38\u306f\u8679\u5f69\u306e\u4e0b\u5074\u304c\u6b20\u3051\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8108\u7d61\u819c\u30fb\u7db2\u819c\u30b3\u30ed\u30dc\u30fc\u30de:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5916\u898b\u304b\u3089\u306f\u5206\u304b\u308a\u307e\u305b\u3093\u304c\u3001\u773c\u306e\u5965\uff08\u7db2\u819c\u3084\u8108\u7d61\u819c\uff09\u306b\u3082\u6b20\u640d\u304c\u53ca\u3093\u3067\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u8996\u91ce\u306e\u4e00\u90e8\u304c\u6b20\u3051\u305f\u308a\u3001\u8996\u529b\u304c\u4f4e\u4e0b\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong> \u659c\u8996\u3001\u5c0f\u773c\u7403\u75c7\u3001\u7247\u773c\u306e\u307f\u306e\u7570\u5e38\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u8033\u306e\u75c7\u72b6\uff08Auricular features\uff09<\/strong><\/p>\n\n\n\n<p>\u5b9f\u306f\u3001\u773c\u306e\u75c7\u72b6\u3088\u308a\u3082\u9ad8\u3044\u983b\u5ea6\uff08\u7d0480\u301c90%\uff09\u3067\u898b\u3089\u308c\u308b\u3001\u8a3a\u65ad\u4e0a\u975e\u5e38\u306b\u91cd\u8981\u306a\u30b5\u30a4\u30f3\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8033\u524d\u90e8\u30bf\u30b0\uff08Preauricular tags\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8033\u306e\u7a74\u306e\u524d\uff08\u9854\u5074\uff09\u306b\u3001\u5c0f\u3055\u306a\u76ae\u819a\u306e\u7a81\u8d77\uff08\u30a4\u30dc\u306e\u3088\u3046\u306a\u3082\u306e\uff09\u304c\u3042\u308a\u307e\u3059\u3002\u7247\u5074\u3060\u3051\u306e\u5834\u5408\u3082\u4e21\u5074\u306e\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8033\u524d\u90e8\u763b\u5b54\uff08Preauricular pits\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8033\u306e\u524d\u306b\u5c0f\u3055\u306a\u7a74\u304c\u958b\u3044\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8033\u4ecb\u306e\u5909\u5f62:<\/strong> \u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u304c\u5c0f\u3055\u3044\u3001\u5f62\u304c\u5909\u5f62\u3057\u3066\u3044\u308b\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u5916\u8033\u9053\u9589\u9396:<\/strong> \u7a00\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\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u6d88\u5316\u5668\u306e\u75c7\u72b6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9396\u809b \/ \u809b\u9580\u9589\u9396\u75c7\uff08Anal atresia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u751f\u307e\u308c\u3064\u304d\u809b\u9580\u304c\u958b\u3044\u3066\u3044\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u72ed\u3044\u3001\u4f4d\u7f6e\u304c\u305a\u308c\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u60a3\u8005\u3055\u3093\u306e\u7d0470\u301c80%\u306b\u898b\u3089\u308c\u308b\u9ad8\u983b\u5ea6\u304b\u3064\u91cd\u8981\u306a\u5408\u4f75\u75c7\u3067\u3042\u308a\u3001\u51fa\u751f\u76f4\u5f8c\u306e\u7dca\u6025\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u76f4\u8178\u304c\u5c3f\u9053\u3084\u81a3\u3068\u3064\u306a\u304c\u3063\u3066\u3044\u308b\uff08\u763b\u5b54\uff09\u30bf\u30a4\u30d7\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5fc3\u81d3\u30fb\u814e\u81d3\u306e\u75c7\u72b6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08Congenital Heart Defects\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7d0450\u301c60%\u306b\u5408\u4f75\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\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\u69d8\u3005\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u814e\u81d3\u30fb\u5c3f\u8def\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\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<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u4ed6\u306e\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u5019\u7fa4\uff0813\u30c8\u30ea\u30bd\u30df\u30fc\u308418\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\uff09\u3068\u5927\u304d\u304f\u7570\u306a\u308b\u70b9\u3067\u3042\u308a\u3001\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u5e0c\u671b\u3068\u306a\u308b\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u767a\u9054:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306f\u3001<strong>\u8efd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3<\/strong>\u3001\u3042\u308b\u3044\u306f<strong>\u6b63\u5e38\u77e5\u80fd<\/strong>\uff08\u5883\u754c\u57df\u542b\u3080\uff09\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u306f\u7a00\u3067\u3059\u304c\u3001\u5408\u4f75\u75c7\uff08\u91cd\u7be4\u306a\u5fc3\u75be\u60a3\u306a\u3069\uff09\u306e\u6709\u7121\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<\/ul>\n<\/li>\n\n\n\n<li><strong>\u767a\u9054\u7279\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u904b\u52d5\u767a\u9054\u3084\u8a00\u8449\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u3086\u3063\u304f\u308a\u3068\u7372\u5f97\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>6. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9aa8\u683c:<\/strong> \u5074\u5f2f\u75c7\u3001\u534a\u690e\u4f53\u3001\u6a48\u9aa8\uff08\u8155\u306e\u9aa8\uff09\u306e\u7570\u5e38\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u6210\u9577:<\/strong> \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\n<li><strong>\u9854\u8c8c:<\/strong> \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\u3001\u4e0b\u5411\u304d\u306e\u773c\u77bc\u88c2\u306a\u3069\u3001\u8efd\u5ea6\u306e\u7279\u5fb4\u304c\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>**22\u756a\u67d3\u8272\u4f53\u7531\u6765\u306e\u300c\u904e\u5270\u306a\u30de\u30fc\u30ab\u30fc\u67d3\u8272\u4f53\u300d**\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30fc\u30ab\u30fc\u67d3\u8272\u4f53\u306e\u6b63\u4f53:<\/strong>\n<ul class=\"wp-block-list\">\n<li>22\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\uff09\u3068\u3001\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\u8f2a\u3063\u304b\u72b6\u3084\u5c0f\u3055\u306a\u68d2\u72b6\u306b\u306a\u3063\u305f\u3082\u306e\u3067\u3059\uff08\u5c02\u9580\u7684\u306b\u306f\u300c\u540c\u8155\u67d3\u8272\u4f53\u300d\u3084\u300c\u4e8c\u52d5\u539f\u4f53\u67d3\u8272\u4f53\u300d\u3068\u547c\u3070\u308c\u307e\u3059\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u306a\u305c\u8d77\u3053\u308b\u306e\u304b\uff1f<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\uff1a<\/strong> \u60a3\u8005\u3055\u3093\u306e\u591a\u304f\u306f\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\uff08\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6642\uff09\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08Familial\uff09\uff1a<\/strong> \u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u3001\u540c\u3058\u30de\u30fc\u30ab\u30fc\u67d3\u8272\u4f53\u3092\u6301\u3063\u3066\u3044\u308b\uff08\u30e2\u30b6\u30a4\u30af\u578b\u3067\u75c7\u72b6\u304c\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u8efd\u5fae\u306a\u75c7\u72b6\u306e\u307f\uff09\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u89aa\u304b\u3089\u5b50\u3078\u907a\u4f1d\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Gene Dosage Effect\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>22q11\u9818\u57df\u306b\u3042\u308b\u907a\u4f1d\u5b50\uff08<em>CECR1<\/em>, <em>CECR2<\/em>\u306a\u3069\uff09\u304c\u3001\u901a\u5e38\u306e2\u500d\uff08\u5408\u8a084\u30b3\u30d4\u30fc\uff09\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u80ce\u5150\u671f\u306e\u773c\u3001\u8033\u3001\u809b\u9580\u3001\u5fc3\u81d3\u306e\u767a\u751f\u30d7\u30ed\u30bb\u30b9\u306b\u6df7\u4e71\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u306a\u305c\u75c7\u72b6\u306b\u500b\u4eba\u5dee\u304c\u3042\u308b\u306e\u304b\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\u30e2\u30b6\u30a4\u30af\u7387\uff08\u30de\u30fc\u30ab\u30fc\u3092\u6301\u3064\u7d30\u80de\u306e\u5272\u5408\uff09\u306e\u9055\u3044\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u300c\u8033\u306e\u524d\u306e\u7a81\u8d77\u300d\u300c\u9396\u809b\u300d\u300c\u30b3\u30ed\u30dc\u30fc\u30de\u300d\u306a\u3069\u306e\u81e8\u5e8a\u75c7\u72b6\u304b\u3089\u7591\u308f\u308c\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u5206\u67d3\u6cd5\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u901a\u5e38\u306e\u6838\u578b\u5206\u6790\u3092\u884c\u3046\u3068\u300146\u672c\u306e\u67d3\u8272\u4f53\u306b\u52a0\u3048\u3066\u3001\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\u307e\u3059\u3002\u6838\u578b\u306f 47,XX,+mar \u307e\u305f\u306f 47,XY,+mar \u3068\u8868\u8a18\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>FISH\u6cd5 \/ \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u305d\u306e\u300c\u30de\u30fc\u30ab\u30fc\u67d3\u8272\u4f53\u300d\u304c\u4f55\u8005\u3067\u3042\u308b\u304b\u3092\u7279\u5b9a\u3059\u308b\u305f\u3081\u306b\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>22\u756a\u67d3\u8272\u4f53\u306e\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\u3084q11\u9818\u57df\u306e\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u305fFISH\u6cd5\u306b\u3088\u308a\u3001\u30de\u30fc\u30ab\u30fc\u304c22\u756a\u7531\u6765\u3067\u3042\u308a\u3001\u304b\u3064\u91cd\u8907\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u3053\u308c\u3067\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u691c\u67fb\uff08\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u5834\u5408\u3001\u7121\u75c7\u72b6\u3067\u3042\u3063\u3066\u3082\u5168\u8eab\u306e\u7cbe\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u30a8\u30b3\u30fc:<\/strong> \u5148\u5929\u6027\u5fc3\u75be\u60a3\u306e\u6709\u7121\u3002<\/li>\n\n\n\n<li><strong>\u8179\u90e8\u30a8\u30b3\u30fc:<\/strong> \u814e\u81d3\u306e\u5f62\u614b\u7570\u5e38\u306e\u6709\u7121\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u691c\u67fb:<\/strong> \u8996\u529b\u3001\u773c\u5e95\u691c\u67fb\uff08\u7db2\u819c\u30b3\u30ed\u30dc\u30fc\u30de\u306e\u6709\u7121\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8074\u529b\u691c\u67fb:<\/strong> \u96e3\u8074\u306e\u6709\u7121\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u904e\u5270\u306a\u67d3\u8272\u4f53\u3092\u53d6\u308a\u9664\u304f\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\uff08\u7279\u306b\u5916\u79d1\u7684\u6cbb\u7642\uff09\u3068\u3001\u767a\u9054\u3092\u4fc3\u3059\u7642\u80b2\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002\u751f\u547d\u4e88\u5f8c\u306f\u3001\u91cd\u7be4\u306a\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\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5916\u79d1\u7684\u6cbb\u7642\uff08\u65b0\u751f\u5150\u671f\u301c\u4e73\u5150\u671f\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9396\u809b\u306e\u624b\u8853:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u76f4\u5f8c\u306b\u4eba\u5de5\u809b\u9580\uff08\u30b9\u30c8\u30fc\u30de\uff09\u3092\u4f5c\u308b\u624b\u8853\u3092\u884c\u3044\u3001\u4f53\u683c\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\uff08\u75c5\u578b\u306b\u3088\u308a\u307e\u3059\uff09\u3002\u5c0f\u5150\u5916\u79d1\u533b\u306b\u3088\u308b\u9577\u671f\u7684\u306a\u6392\u4fbf\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3\u306e\u624b\u8853:<\/strong>\n<ul class=\"wp-block-list\">\n<li>TAPVR\u3084TOF\u306a\u3069\u306e\u91cd\u7be4\u306a\u5fc3\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u3001\u5fc3\u81d3\u8840\u7ba1\u5916\u79d1\u306b\u3088\u308b\u624b\u8853\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8033\u524d\u90e8\u30bf\u30b0\u306e\u5207\u9664:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc5\u9808\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u7f8e\u5bb9\u7684\u306a\u89b3\u70b9\u3084\u3001\u5f15\u3063\u304b\u304b\u308a\u3084\u3059\u3055\u3092\u8003\u616e\u3057\u3066\u5f62\u6210\u5916\u79d1\u3067\u5207\u9664\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u773c\u79d1\u7684\u30b1\u30a2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8996\u529b\u7ba1\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7db2\u819c\u30b3\u30ed\u30dc\u30fc\u30de\u306b\u3088\u308b\u8996\u529b\u4f4e\u4e0b\u304c\u3042\u308b\u5834\u5408\u3001\u773c\u93e1\u306b\u3088\u308b\u77ef\u6b63\u3084\u3001\u5f31\u8996\u8a13\u7df4\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u906e\u5149:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8679\u5f69\u30b3\u30ed\u30dc\u30fc\u30de\uff08\u8679\u5f69\u306e\u6b20\u640d\uff09\u306b\u3088\u308a\u3001\u76ee\u306b\u5165\u308b\u5149\u306e\u91cf\u3092\u8abf\u7bc0\u3067\u304d\u305a\u3001\u7729\u3057\u3055\u3092\u5f37\u304f\u611f\u3058\u308b\uff08\u7f9e\u660e\uff09\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u906e\u5149\u773c\u93e1\uff08\u30b5\u30f3\u30b0\u30e9\u30b9\uff09\u3084\u3001\u3064\u3070\u306e\u5e83\u3044\u5e3d\u5b50\u3092\u4f7f\u7528\u3059\u308b\u3053\u3068\u3067\u3001\u4e0d\u5feb\u611f\u3092\u8efd\u6e1b\u3057\u3001\u8996\u6a5f\u80fd\u3092\u5b88\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u5f8c\u3001\u767a\u9054\u306e\u9045\u308c\u304c\u6c17\u306b\u306a\u308b\u5834\u5408\u306f\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u306a\u3069\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6559\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u306f\u8efd\u5ea6\u301c\u6b63\u5e38\u7bc4\u56f2\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u901a\u5e38\u5b66\u7d1a\u306b\u901a\u3046\u304a\u5b50\u3055\u3093\u3082\u591a\u3044\u3067\u3059\u3002\u5b66\u7fd2\u969c\u5bb3\u3084\u96e3\u8074\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u500b\u5225\u306e\u652f\u63f4\u8a08\u753b\u306b\u57fa\u3065\u3044\u305f\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5065\u5eb7\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u611f\u67d3\u75c7\u4e88\u9632:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u75be\u60a3\u3084\u814e\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u3001\u611f\u67d3\u75c7\u304c\u60aa\u5316\u3057\u3084\u3059\u3044\u305f\u3081\u3001\u30ef\u30af\u30c1\u30f3\u63a5\u7a2e\u3084\u611f\u67d3\u5bfe\u7b56\u3092\u5fb9\u5e95\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u814e\u6a5f\u80fd\u30c1\u30a7\u30c3\u30af:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u814e\u5947\u5f62\u304c\u3042\u308b\u5834\u5408\u3001\u5b9a\u671f\u7684\u306a\u5c3f\u691c\u67fb\u3084\u8840\u6db2\u691c\u67fb\u3067\u814e\u6a5f\u80fd\u3092\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u60c5\u5831\u306e\u6574\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u691c\u67fb\u306e\u7d50\u679c\uff08\u30de\u30fc\u30ab\u30fc\u67d3\u8272\u4f53\uff09\u306e\u610f\u5473\u3092\u5206\u304b\u308a\u3084\u3059\u304f\u8aac\u660e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u3078\u306e\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3092\u884c\u3046\u304b\u3069\u3046\u304b\u3092\u76f8\u8ac7\u3057\u307e\u3059\u3002\u3082\u3057\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u30de\u30fc\u30ab\u30fc\u3092\u6301\u3063\u3066\u3044\u305f\u5834\u5408\u3001\u6b21\u5b50\u3078\u306e\u907a\u4f1d\u30ea\u30b9\u30af\u3084\u3001\u304d\u3087\u3046\u3060\u3044\u306e\u691c\u67fb\u306b\u3064\u3044\u3066\u3082\u8a71\u3057\u5408\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u300c\u732b\u76ee\u300d\u3068\u3044\u3046\u75c5\u540d\u306b\u5bfe\u3059\u308b\u5fc3\u7406\u7684\u306a\u30b1\u30a2\u3084\u3001\u898b\u305f\u76ee\u306e\u60a9\u307f\uff08\u8033\u306e\u30bf\u30b0\u3084\u76ee\u306e\u5f62\uff09\u306b\u5bfe\u3059\u308b\u30b5\u30dd\u30fc\u30c8\u3082\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>Cat eye syndrome\uff08\u30ad\u30e3\u30c3\u30c8\u30fb\u30a2\u30a4\u75c7\u5019\u7fa4\uff09\u306f\u300122\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u4f59\u5206\u306b\u5897\u3048\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u732b\u306e\u76ee\u300d\u3068\u3044\u3046\u540d\u524d\u304b\u3089\u3001\u76ee\u306e\u75c5\u6c17\u3060\u3068\u601d\u308f\u308c\u304c\u3061\u3067\u3059\u304c\u3001\u5b9f\u969b\u306b\u306f\u300c\u8033\u306e\u524d\u306e\u30dd\u30c1\u30c3\u3068\u3057\u305f\u7a81\u8d77\u300d\u3084\u300c\u751f\u307e\u308c\u3064\u304d\u809b\u9580\u304c\u306a\u3044\uff08\u9396\u809b\uff09\u300d\u3068\u3044\u3063\u305f\u75c7\u72b6\u306e\u65b9\u304c\u9ad8\u983b\u5ea6\u306b\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u5927\u304d\u306a\u7279\u5fb4\u306f\u3001\u300c\u500b\u4eba\u5dee\u304c\u3068\u3066\u3082\u5927\u304d\u3044\u300d\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5fc3\u81d3\u3084\u6d88\u5316\u5668\u306e\u624b\u8853\u304c\u5fc5\u8981\u306a\u8d64\u3061\u3083\u3093\u3082\u3044\u308c\u3070\u3001\u5927\u4eba\u306b\u306a\u308b\u307e\u3067\u81ea\u5206\u304c\u3053\u306e\u4f53\u8cea\u3067\u3042\u308b\u3053\u3068\u306b\u6c17\u3065\u304b\u305a\u306b\u904e\u3054\u3057\u3066\u3044\u308b\u65b9\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u751f\u307e\u308c\u305f\u3070\u304b\u308a\u306e\u8d64\u3061\u3083\u3093\u306b\u624b\u8853\u304c\u5fc5\u8981\u3068\u8a00\u308f\u308c\u305f\u308a\u3001\u67d3\u8272\u4f53\u306e\u7570\u5e38\u304c\u898b\u3064\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u306f\u3001\u5927\u304d\u306a\u885d\u6483\u3068\u4e0d\u5b89\u3092\u3082\u305f\u3089\u3059\u3053\u3068\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u306e\u75be\u60a3\u306b\u4f34\u3046\u9396\u809b\u3084\u5fc3\u75be\u60a3\u306f\u3001\u73fe\u4ee3\u306e\u533b\u7642\u6280\u8853\u3067\u6cbb\u7642\u53ef\u80fd\u306a\u3082\u306e\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u773c\u306e\u30b3\u30ed\u30dc\u30fc\u30de\u304c\u3042\u3063\u3066\u3082\u3001\u9069\u5207\u306a\u30b1\u30a2\uff08\u30b5\u30f3\u30b0\u30e9\u30b9\u306a\u3069\uff09\u3092\u884c\u3048\u3070\u3001\u65e5\u5e38\u751f\u6d3b\u306b\u652f\u969c\u304c\u306a\u3044\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u3057\u3066\u4f55\u3088\u308a\u3001\u77e5\u7684\u306a\u767a\u9054\u306b\u95a2\u3057\u3066\u306f\u3001\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u304c\u3086\u3063\u304f\u308a\u306a\u304c\u3089\u3082\u8a00\u8449\u3092\u899a\u3048\u3001\u5b66\u6821\u306b\u901a\u3044\u3001\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u67d3\u8272\u4f53\u7570\u5e38\uff1d\u91cd\u3044\u969c\u5bb3\u300d\u3068\u3044\u3046\u30a4\u30e1\u30fc\u30b8\u3092\u6301\u305f\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001Cat eye syndrome\u306e\u60a3\u8005\u3055\u3093\u306f\u3001\u305d\u308c\u305e\u308c\u306b\u500b\u6027\u7684\u306a\u9b45\u529b\u3092\u6301\u3063\u3066\u3001\u5143\u6c17\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u5150\u5916\u79d1\u533b\u3001\u773c\u79d1\u533b\u3001\u5faa\u74b0\u5668\u5185\u79d1\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\u8c4a\u304b\u306a\u4eba\u751f\u3092\u652f\u3048\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Schmid, W., &amp; Fraccaro, M.<\/strong> (1965). <em>The chromosome marker of the cat eye syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u672c\u75c7\u5019\u7fa4\u306e\u907a\u4f1d\u5b66\u7684\u57fa\u790e\u3092\u78ba\u7acb\u3057\u305f\u6b74\u53f2\u7684\u306a\u8ad6\u6587\u3002\u5225\u540d\u300cSchmid-Fraccaro\u75c7\u5019\u7fa4\u300d\u306e\u7531\u6765\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>McDermid, H.E., et al.<\/strong> (1986). <em>Characterization of the supernumerary chromosome in Cat Eye Syndrome.<\/em> Science.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u30de\u30fc\u30ab\u30fc\u67d3\u8272\u4f53\u304c22\u756a\u67d3\u8272\u4f53\u7531\u6765\uff08\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\uff09\u3067\u3042\u308b\u3053\u3068\u3092\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u306b\u8a3c\u660e\u3057\u305f\u91cd\u8981\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Berends, M.J., et al.<\/strong> (2001). <em>Two cases of Cat Eye syndrome with a similar distinct phenotype but a different cytogenetic anomaly.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5178\u578b\u7684\u306a\u75c7\u72b6\u3092\u6301\u3064\u60a3\u8005\u3068\u3001\u975e\u5178\u578b\u7684\u306a\u907a\u4f1d\u5b50\u578b\u3092\u6301\u3064\u60a3\u8005\u3092\u6bd4\u8f03\u3057\u3001\u8868\u73fe\u578b\u306e\u591a\u69d8\u6027\u306b\u3064\u3044\u3066\u5831\u544a\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Rosias, P.R., et al.<\/strong> (2001). <em>Phenotypic variability of the cat eye syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5bb6\u65cf\u5185\u767a\u75c7\u4f8b\u3092\u542b\u3081\u305f\u591a\u6570\u4f8b\u306e\u691c\u8a0e\u3092\u884c\u3044\u3001\u7121\u75c7\u72b6\u306e\u4fdd\u56e0\u8005\u304b\u3089\u91cd\u75c7\u4f8b\u307e\u3067\u306e\u5e45\u5e83\u3044\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff08\u500b\u4eba\u5dee\uff09\u3092\u8a73\u7d30\u306b\u89e3\u6790\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>Cat Eye Syndrome<\/em> (2018).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u5404\u75c7\u72b6\uff08\u773c\u3001\u8033\u3001\u6d88\u5316\u5668\uff09\u306e\u8a73\u7d30\u306a\u30b1\u30a2\u3001\u767a\u9054\u306e\u898b\u901a\u3057\u3001\u751f\u6d3b\u4e0a\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u306a\u3069\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae \/ NORD (National Organization for Rare Disorders)<\/strong>: <em>Cat Eye Syndrome<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306b\u304a\u3051\u308b\u75be\u60a3\u5b9a\u7fa9\u3001\u75ab\u5b66\u60c5\u5831\u3001\u304a\u3088\u3073\u6700\u65b0\u306e\u7ba1\u7406\u6307\u91dd\u3002)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-17245","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\/17245","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/genetic-screening"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17245\/revisions"}],"predecessor-version":[{"id":17247,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17245\/revisions\/17247"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17245"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}