{"id":17023,"date":"2026-01-21T05:07:46","date_gmt":"2026-01-21T05:07:46","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17023"},"modified":"2026-01-21T05:08:34","modified_gmt":"2026-01-21T05:08:34","slug":"2q35-duplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/2q35-duplication-syndrome\/","title":{"rendered":"2q35 duplication 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>2q35\u91cd\u8907\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>2q35\u5fae\u7d30\u91cd\u8907\u75c7\u5019\u7fa4\uff082q35 microduplication syndrome\uff09<\/li>\n\n\n\n<li>2q35\u30c8\u30ea\u30bd\u30df\u30fc\uff08Trisomy 2q35\uff09<\/li>\n\n\n\n<li>\u5408\u6307\u75c71\u578b\uff08Syndactyly type 1; SD1\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b2q35\u9818\u57df\uff08\u7279\u306bIHH\u907a\u4f1d\u5b50\u5ea7\uff09\u306e\u91cd\u8907\u306f\u3001\u5408\u6307\u75c71\u578b\u306e\u4e3b\u8981\u306a\u907a\u4f1d\u7684\u539f\u56e0\u3067\u3059\u3002\u81e8\u5e8a\u7684\u306b\u306f\u3053\u306e\u8a3a\u65ad\u540d\u304c\u3064\u304f\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u63a5\u5408\u6307\uff08Zygodactyly\uff09<\/li>\n\n\n\n<li>IHH\u907a\u4f1d\u5b50\u91cd\u8907\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u77ed\u6307\u75c7A1\u578b\uff08Brachydactyly type A1\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u540c\u3058<em>IHH<\/em>\u907a\u4f1d\u5b50\u306e\u300c\u5909\u7570\u300d\u3084\u300c\u6b20\u5931\u300d\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\uff08\u91cd\u8907\u3068\u306f\u9006\u306e\u73fe\u8c61\uff09\u3002<\/li>\n<\/ul>\n<\/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>2\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0935\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e2\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u672b\u7aef\u306b\u8fd1\u3044\u300c35\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u91cd\u8907\uff08\u30b3\u30d4\u30fc\u6570\u304c\u901a\u5e38\u306e2\u672c\u304b\u30893\u672c\u306b\u5897\u52a0\uff09\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u6700\u91cd\u8981\u907a\u4f1d\u5b50\uff1aIHH\u3011<\/p>\n\n\n\n<p>2q35\u9818\u57df\u306e\u91cd\u8907\u306b\u306f\u3001\u30b5\u30a4\u30ba\u3084\u7bc4\u56f2\u306b\u30d0\u30ea\u30a8\u30fc\u30b7\u30e7\u30f3\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u306e\u75be\u60a3\u306e\u75c7\u72b6\uff08\u8868\u73fe\u578b\uff09\u3092\u6c7a\u5b9a\u3065\u3051\u308b\u6700\u3082\u91cd\u8981\u306a\u8981\u7d20\u306f\u3001IHH (Indian Hedgehog) \u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3001\u3042\u308b\u3044\u306f\u305d\u306e\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\uff08\u30a8\u30f3\u30cf\u30f3\u30b5\u30fc\uff09\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3001\u3068\u3044\u3046\u70b9\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>IHH (Indian Hedgehog) \u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u672c\u75c7\u5019\u7fa4\u306e\u300c\u4e3b\u5f79\u300d\u3068\u306a\u308b\u907a\u4f1d\u5b50<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u30d8\u30c3\u30b8\u30db\u30c3\u30b0\uff08Hedgehog\uff09\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u3068\u3044\u3046\u3001\u52d5\u7269\u306e\u4f53\u3092\u4f5c\u308b\u305f\u3081\u306e\u57fa\u672c\u7684\u306a\u30b7\u30b9\u30c6\u30e0\u306b\u95a2\u308f\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f79\u5272:<\/strong> \u80ce\u5150\u671f\u306b\u3001\u8edf\u9aa8\u304c\u9aa8\u306b\u5909\u308f\u308b\u30d7\u30ed\u30bb\u30b9\uff08\u8edf\u9aa8\u5185\u9aa8\u5316\uff09\u3084\u3001\u624b\u8db3\u306e\u6307\u306e\u5f62\u6210\u30fb\u5206\u96e2\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u8907\u306e\u5f71\u97ff:<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u304c3\u30b3\u30d4\u30fc\uff08\u91cd\u8907\uff09\u306b\u306a\u3063\u305f\u308a\u3001\u3053\u306e\u907a\u4f1d\u5b50\u3092\u6d3b\u6027\u5316\u3055\u305b\u308b\u9818\u57df\u304c\u91cd\u8907\u3057\u305f\u308a\u3059\u308b\u3068\u3001\u6307\u3092\u4f5c\u308b\u6307\u4ee4\u304c\u904e\u5270\u3042\u308b\u3044\u306f\u7570\u5e38\u306a\u30bf\u30a4\u30df\u30f3\u30b0\u3067\u51fa\u3055\u308c\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u672c\u6765\u5206\u304b\u308c\u308b\u3079\u304d\u6307\u304c\u5206\u304b\u308c\u305a\u3001**\u300c\u5408\u6307\u75c7\uff08\u6307\u304c\u304f\u3063\u3064\u3044\u305f\u307e\u307e\uff09\u300d**\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u3068\u306e\u9055\u3044:<\/strong> \u9006\u306b\u3053\u306e\u907a\u4f1d\u5b50\u304c\u6a5f\u80fd\u3057\u306a\u304f\u306a\u308b\uff08\u5909\u7570\u3084\u6b20\u5931\uff09\u3068\u3001\u6307\u306e\u9aa8\u304c\u77ed\u304f\u306a\u308b\u300c\u77ed\u6307\u75c7A1\u578b\u300d\u306b\u306a\u308a\u307e\u3059\u3002\u907a\u4f1d\u5b50\u306e\u91cf\u304c\u5897\u3048\u308b\u304b\u6e1b\u308b\u304b\u3067\u3001\u5168\u304f\u7570\u306a\u308b\u624b\u8db3\u306e\u5f62\u306b\u306a\u308b\u306e\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u907a\u4f1d\u5b50\uff08\u5e83\u7bc4\u56f2\u91cd\u8907\u306e\u5834\u5408\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3082\u3057\u91cd\u8907\u306e\u7bc4\u56f2\u304c\u30e1\u30ac\u30d9\u30fc\u30b9\u5358\u4f4d\u3067\u975e\u5e38\u306b\u5e83\u304f\u3001\u96a3\u63a5\u3059\u308b\u4ed6\u306e\u907a\u4f1d\u5b50\uff08<em>DES<\/em>\u306a\u3069\uff09\u3082\u591a\u6570\u542b\u3093\u3067\u3044\u308b\u5834\u5408\u306f\u3001\u624b\u8db3\u306e\u7570\u5e38\u3060\u3051\u3067\u306a\u304f\u3001\u767a\u9054\u9045\u6ede\u3084\u4f4e\u8eab\u9577\u306a\u3069\u3092\u5408\u4f75\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\uff08\u3044\u308f\u3086\u308b\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d\u3068\u3057\u3066\u306e\u5074\u9762\uff09\u3002\u3057\u304b\u3057\u30012q35\u91cd\u8907\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u308b\u591a\u304f\u306f\u3001<em>IHH<\/em>\u306b\u95a2\u9023\u3057\u305f\u624b\u8db3\u306e\u7279\u5fb4\u304c\u30e1\u30a4\u30f3\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u7a00\uff08Rare\uff09\u3060\u304c\u3001\u5408\u6307\u75c7\u306e\u4e2d\u3067\u306f\u91cd\u8981\u306a\u539f\u56e0\u306e\u4e00\u3064<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u300c\u5408\u6307\u75c7\uff08Syndactyly\uff09\u300d\u81ea\u4f53\u306f\u3001\u51fa\u751f2,000\u301c3,000\u4eba\u306b1\u4eba\u7a0b\u5ea6\u306b\u898b\u3089\u308c\u308b\u6bd4\u8f03\u7684\u983b\u5ea6\u306e\u9ad8\u3044\u5148\u5929\u7570\u5e38\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u4e2d\u3067\u3082\u300c\u5408\u6307\u75c71\u578b\uff08\u4e2d\u6307\u3068\u85ac\u6307\u3001\u307e\u305f\u306f\u7b2c2\u8dbe\u3068\u7b2c3\u8dbe\u306e\u7652\u5408\uff09\u300d\u306f\u6700\u3082\u4e00\u822c\u7684\u306a\u30bf\u30a4\u30d7\u3067\u3042\u308a\u3001\u305d\u306e\u539f\u56e0\u306e\u4e00\u90e8\u3068\u3057\u30662q35\u91cd\u8907\u304c\u542b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u67d3\u8272\u4f53\u691c\u67fb\uff08\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\uff09\u3092\u884c\u308f\u306a\u3044\u3068\u300c\u5358\u306a\u308b\u5408\u6307\u75c7\u300d\u3068\u3057\u3066\u6271\u308f\u308c\u308b\u305f\u3081\u3001\u6b63\u78ba\u306a\u8a3a\u65ad\u6570\u306f\u5831\u544a\u3088\u308a\u3082\u591a\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7537\u5973\u5dee\u306f\u306a\u304f\u3001\u6027\u5225\u306b\u95a2\u4fc2\u306a\u304f\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>2q35 duplication syndrome\u306e\u6700\u5927\u304b\u3064\u6700\u3082\u4e00\u822c\u7684\u306a\u7279\u5fb4\u306f\u3001**\u300c\u624b\u8db3\u306e\u5408\u6307\u75c7\u300d**\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u8907\u306e\u7bc4\u56f2\u304cIHH\u907a\u4f1d\u5b50\u5468\u8fba\u306b\u9650\u5c40\u3057\u3066\u3044\u308b\u5834\u5408\u3001**\u77e5\u7684\u306a\u767a\u9054\u3084\u5185\u81d3\u6a5f\u80fd\u306f\u6b63\u5e38\uff08Normal\uff09**\u3067\u3042\u308b\u3053\u3068\u304c\u975e\u5e38\u306b\u591a\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3067\u3001\u91cd\u8907\u7bc4\u56f2\u304c\u5e83\u3044\u5834\u5408\u306f\u3001\u305d\u306e\u4ed6\u306e\u75c7\u72b6\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u624b\u8db3\u306e\u5f62\u614b\u7570\u5e38\uff08Syndactyly type 1\uff09<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u3066\u306e\u60a3\u8005\u3055\u3093\u306b\u898b\u3089\u308c\u308b\u3001\u8a3a\u65ad\u306e\u6c7a\u3081\u624b\u3068\u306a\u308b\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u624b\u306e\u5408\u6307\u75c7:<\/strong>\n<ul class=\"wp-block-list\">\n<li>**\u7b2c3\u6307\uff08\u4e2d\u6307\uff09\u3068\u7b2c4\u6307\uff08\u85ac\u6307\uff09**\u306e\u9593\u304c\u304f\u3063\u3064\u3044\u3066\u3044\u308b\u306e\u304c\u5178\u578b\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7652\u5408\u306e\u7a0b\u5ea6\u306f\u69d8\u3005\u3067\u3059\u3002\n<ul class=\"wp-block-list\">\n<li><strong>\u76ae\u819a\u6027\u5408\u6307:<\/strong> \u76ae\u819a\u3060\u3051\u3067\u3064\u306a\u304c\u3063\u3066\u3044\u308b\uff08\u6c34\u304b\u304d\u304c\u5927\u304d\u3044\u72b6\u614b\u304b\u3089\u3001\u6307\u5148\u307e\u3067\u5b8c\u5168\u306b\u3064\u306a\u304c\u3063\u3066\u3044\u308b\u72b6\u614b\u307e\u3067\uff09\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u6027\u5408\u6307:<\/strong> \u722a\u3084\u672b\u7bc0\u9aa8\uff08\u6307\u5148\u306e\u9aa8\uff09\u304c\u7652\u5408\u3057\u3066\u3044\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u304c\u30012q35\u91cd\u8907\uff08\u5408\u6307\u75c71\u578b\uff09\u3067\u306f\u76ae\u819a\u6027\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8db3\u306e\u5408\u6307\u75c7:<\/strong>\n<ul class=\"wp-block-list\">\n<li>**\u7b2c2\u8dbe\uff08\u4eba\u5dee\u3057\u6307\uff09\u3068\u7b2c3\u8dbe\uff08\u4e2d\u6307\uff09**\u306e\u9593\u304c\u304f\u3063\u3064\u3044\u3066\u3044\u308b\u3053\u3068\u304c\u975e\u5e38\u306b\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8db3\u306e\u5408\u6307\u75c7\u306f\u6a5f\u80fd\u7684\u306a\u554f\u984c\u304c\u5c11\u306a\u3044\u305f\u3081\u3001\u6cbb\u7642\u3055\u308c\u305a\u306b\u7d4c\u904e\u89b3\u5bdf\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5de6\u53f3\u5bfe\u79f0\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u5834\u5408\u3001\u4e21\u624b\u30fb\u4e21\u8db3\u306b\u75c7\u72b6\u304c\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u5de6\u53f3\u3067\u7a0b\u5ea6\u304c\u7570\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6a5f\u80fd\u9762:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u306e\u5408\u6307\u75c7\u306f\u3001\u6307\u3092\u72ec\u7acb\u3057\u3066\u52d5\u304b\u3057\u306b\u304f\u3044\u305f\u3081\u3001\u30d4\u30a2\u30ce\u3092\u5f3e\u304f\u3001\u7d30\u304b\u3044\u3082\u306e\u3092\u3064\u307e\u3080\u3068\u3044\u3063\u305f\u52d5\u4f5c\u306b\u5236\u9650\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u3053\u3053\u304c\u975e\u5e38\u306b\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b63\u5e38\u306a\u77e5\u80fd\uff08Normal Intelligence\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>IHH<\/em>\u907a\u4f1d\u5b50\u5ea7\u306e\u5fae\u7d30\u91cd\u8907\u306e\u307f\u3092\u6301\u3064\u60a3\u8005\u3055\u3093\u306e\u591a\u304f\u306f\u3001\u77e5\u7684\u969c\u5bb3\u3084\u767a\u9054\u9045\u6ede\u3092\u4f34\u3044\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u5b66\u6821\u751f\u6d3b\u3084\u793e\u4f1a\u751f\u6d3b\u306b\u304a\u3044\u3066\u3082\u3001\u624b\u8db3\u306e\u7279\u5fb4\u4ee5\u5916\u306f\u5168\u304f\u554f\u984c\u306a\u304f\u904e\u3054\u3055\u308c\u3066\u3044\u308b\u65b9\u304c\u591a\u6570\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u6ede\uff08\u5e83\u7bc4\u56f2\u91cd\u8907\u306e\u5834\u5408\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u91cd\u8907\u304c2q35\u306e\u5e83\u7bc4\u56f2\u306b\u53ca\u3073\u3001\u6570\u5341\u500b\u4ee5\u4e0a\u306e\u907a\u4f1d\u5b50\u3092\u542b\u3080\u3088\u3046\u306a\u5927\u304d\u306a\u30b5\u30a4\u30ba\uff08\u6570Mb\u4ee5\u4e0a\uff09\u306e\u5834\u5408\u3001\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3001\u8a00\u8a9e\u306e\u9045\u308c\u3001\u5c0f\u982d\u75c7\u306a\u3069\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a3a\u65ad\u66f8\u306b\u300cmicroduplication\uff08\u5fae\u7d30\u91cd\u8907\uff09\u300d\u3068\u3042\u308b\u5834\u5408\u306f\u3001\u6bd4\u8f03\u7684\u9650\u5c40\u3057\u305f\uff08\u75c7\u72b6\u304c\u8efd\u3044\uff09\u30bf\u30a4\u30d7\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u9854\u8c8c<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9854\u8c8c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7279\u7570\u7684\u306a\u9854\u8c8c\uff08Dysmorphism\uff09\u306f\u901a\u5e38\u898b\u3089\u308c\u307e\u305b\u3093\u3002\u5bb6\u65cf\u306b\u4f3c\u3066\u3044\u308b\u7bc4\u56f2\u5185\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5e83\u7bc4\u56f2\u91cd\u8907\u306e\u5834\u5408\u306f\u3001\u5c0f\u982d\u75c7\u3001\u4f4e\u3044\u8033\u306e\u4f4d\u7f6e\u3001\u773c\u9593\u958b\u96e2\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9aa8\u683c\u30fb\u6210\u9577:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u77ed\u6307\u75c7\uff08Brachydactyly\uff09\u306e\u5408\u4f75:<\/strong> \u5408\u6307\u3060\u3051\u3067\u306a\u304f\u3001\u6307\u306e\u9aa8\u304c\u5c11\u3057\u77ed\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u8eab\u9577:<\/strong> <em>IHH<\/em>\u306f\u9aa8\u306e\u6210\u9577\u306b\u95a2\u308f\u308b\u305f\u3081\u3001\u8eab\u9577\u304c\u4f4e\u3081\u3067\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u8457\u3057\u3044\u4f4e\u8eab\u9577\uff08\u75c5\u7684\u306a\u30ec\u30d9\u30eb\uff09\u306b\u306a\u308b\u3053\u3068\u306f\u7a00\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<p>\u5185\u81d3\u5947\u5f62\u306e\u5408\u4f75\u306f\u975e\u5e38\u306b\u7a00\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u57fa\u672c\u7684\u306b\u3001\u5fc3\u81d3\u3084\u814e\u81d3\u306a\u3069\u306e\u5185\u81d3\u306b\u306f\u5f71\u97ff\u3057\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5065\u5eb7\u72b6\u614b\u306f\u826f\u597d\u3067\u3001\u5bff\u547d\u3082\u4e00\u822c\u306e\u4eba\u3068\u5909\u308f\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>2\u756a\u67d3\u8272\u4f53\u9577\u8155\uff082q35\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u91cd\u8907<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. IHH\u907a\u4f1d\u5b50\u306e\u904e\u5270\u767a\u73fe\u3068\u30a8\u30f3\u30cf\u30f3\u30b5\u30fc\u306e\u91cd\u8907<\/strong><\/p>\n\n\n\n<p>\u306a\u305c\u3001\u907a\u4f1d\u5b50\u304c\u5897\u3048\u308b\u3068\u6307\u304c\u304f\u3063\u3064\u304f\u306e\u3067\u3057\u3087\u3046\u304b\uff1f<\/p>\n\n\n\n<p>\u624b\u8db3\u306e\u6307\u306f\u3001\u80ce\u5150\u671f\u306b\u306f\u6700\u521d\u306f\u300c\u6c34\u304b\u304d\u300d\u306e\u3088\u3046\u306a\u677f\u72b6\u306e\u5f62\u3092\u3057\u3066\u3044\u307e\u3059\u3002\u6210\u9577\u3068\u3068\u3082\u306b\u3001\u6307\u306e\u9593\u306e\u7d30\u80de\u304c\u6b7b\u6ec5\uff08\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\uff09\u3059\u308b\u3053\u3068\u3067\u3001\u6307\u304c\u4e00\u672c\u4e00\u672c\u5206\u96e2\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>IHH\u306e\u5f79\u5272:<\/strong> <em>IHH<\/em>\u306f\u7d30\u80de\u306e\u5897\u6b96\u3092\u4fc3\u3057\u3001\u9aa8\u306e\u6210\u9577\u3092\u6307\u4ee4\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u8907\u306e\u5f71\u97ff:<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>IHH<\/em>\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u3001\u3042\u308b\u3044\u306f<em>IHH<\/em>\u3092\u300c\u3044\u3064\u30fb\u3069\u3053\u3067\u30fb\u3069\u308c\u304f\u3089\u3044\u50cd\u304b\u305b\u308b\u304b\u300d\u3092\u6c7a\u3081\u308b\u8abf\u7bc0\u9818\u57df\uff08\u30a8\u30f3\u30cf\u30f3\u30b5\u30fc\uff09\u304c\u91cd\u8907\u3059\u308b\u3053\u3068\u3067\u3001<em>IHH<\/em>\u304c\u904e\u5270\u306b\u50cd\u3044\u305f\u308a\u3001\u672c\u6765\u50cd\u304f\u3079\u304d\u3067\u306a\u3044\u5834\u6240\u3067\u50cd\u3044\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306b\u3088\u308a\u3001\u6307\u306e\u9593\u306e\u7d30\u80de\u304c\u6b7b\u6ec5\u305b\u305a\u3001\u7d44\u7e54\u304c\u6b8b\u3063\u3066\u3057\u307e\u3044\u3001\u7d50\u679c\u3068\u3057\u3066\u300c\u5408\u6307\u75c7\u300d\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8208\u5473\u6df1\u3044\u3053\u3068\u306b\u3001\u3053\u306e\u91cd\u8907\u304c<em>IHH<\/em>\u907a\u4f1d\u5b50\u304b\u3089\u5c11\u3057\u96e2\u308c\u305f\u5834\u6240\uff08\u907a\u4f1d\u5b50\u306e\u5916\u5074\uff09\u306b\u3042\u308b\u5834\u5408\u3067\u3082\u3001DNA\u304c\u6298\u308a\u7573\u307e\u308c\u3066<em>IHH<\/em>\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u3001\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\uff08\u4f4d\u7f6e\u52b9\u679c\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5f62\u5f0f\uff1a\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5bb6\u65cf\u6027\uff08Inherited\uff09\u306e\u983b\u5ea6\u304c\u9ad8\u3044:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75be\u60a3\u306f\u3001<strong>\u89aa\u304b\u3089\u5b50\u3078\u907a\u4f1d\u3059\u308b<\/strong>\u3053\u3068\u304c\u975e\u5e38\u306b\u3088\u304f\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u5fa1\u3055\u3093\u306e\u624b\u3084\u8db3\u3092\u3088\u304f\u898b\u308b\u3068\u3001\u8efd\u5ea6\u306e\u5408\u6307\u75c7\uff08\u6c34\u304b\u304d\u304c\u5c11\u3057\u6df1\u3044\u306a\u3069\uff09\u3084\u3001\u624b\u8853\u75d5\u304c\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u6027\u5225\u306b\u95a2\u308f\u3089\u305a50%\u306e\u78ba\u7387\u3067\u5b50\u306b\u907a\u4f1d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6d78\u900f\u7387\u304c\u9ad8\u3044:<\/strong> \u91cd\u8907\u3092\u53d7\u3051\u7d99\u3050\u3068\u3001\u9ad8\u3044\u78ba\u7387\u3067\u5408\u6307\u75c7\u304c\u73fe\u308c\u307e\u3059\uff08\u305f\u3060\u3057\u3001\u91cd\u75c7\u5ea6\u306f\u89aa\u5b50\u3067\u7570\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e21\u89aa\u306f\u6b63\u5e38\u3067\u3001\u7a81\u7136\u5909\u7570\u3068\u3057\u3066\u767a\u751f\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u300c\u4e2d\u6307\u3068\u85ac\u6307\u306e\u5408\u6307\u75c7\u300d\u3068\u3044\u3046\u7279\u5fb4\u7684\u306a\u6240\u898b\u304b\u3089\u8a3a\u65ad\u306f\u6bd4\u8f03\u7684\u5bb9\u6613\u3067\u3059\u304c\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b**\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff08\u7b2c\u4e00\u9078\u629e\uff09**\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>2q35\u9818\u57df\u306e\u30b3\u30d4\u30fc\u6570\u5897\u52a0\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\uff08bp\u5358\u4f4d\uff09\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u91cd\u8907\u304c<em>IHH<\/em>\u907a\u4f1d\u5b50\u3092\u542b\u3093\u3067\u3044\u308b\u304b\u3001\u3042\u308b\u3044\u306f\u305d\u306e\u8fd1\u508d\u306b\u3042\u308b\u304b\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3067\u3001\u4e88\u5f8c\uff08\u767a\u9054\u9045\u6ede\u306e\u30ea\u30b9\u30af\u304c\u306a\u3044\u304b\u306a\u3069\uff09\u3092\u4e88\u6e2c\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30ec\u30f3\u30c8\u30b2\u30f3\u691c\u67fb\uff08X-ray\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u8db3\u306e\u9aa8\u306e\u69cb\u9020\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6307\u306e\u9aa8\u304c\u5b8c\u5168\u306b\u5206\u96e2\u3057\u3066\u3044\u308b\u304b\u3001\u9aa8\u540c\u58eb\u304c\u7652\u5408\u3057\u3066\u3044\u308b\u304b\uff08\u9aa8\u6027\u5408\u6307\uff09\u3001\u6307\u306e\u9aa8\u306e\u6570\u3084\u9577\u3055\u306b\u7570\u5e38\u304c\u306a\u3044\u304b\u3092\u8a55\u4fa1\u3057\u3001\u624b\u8853\u8a08\u753b\u3092\u7acb\u3066\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e21\u89aa\u306e\u89e3\u6790\uff08Parental Testing\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u304a\u5b50\u3055\u3093\u306b\u91cd\u8907\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u3001\u4e21\u89aa\u306e\u624b\u8db3\u306e\u8a3a\u5bdf\u3068\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5bb6\u65cf\u6027\u3067\u3042\u308b\u3053\u3068\u304c\u5206\u304b\u308c\u3070\u3001\u6b21\u5b50\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\uff0850%\uff09\u304c\u660e\u78ba\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u904e\u5270\u306a\u67d3\u8272\u4f53\u9818\u57df\u3092\u53d6\u308a\u9664\u304f\u3088\u3046\u306a\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001**\u624b\u8db3\u306e\u6a5f\u80fd\u3092\u6539\u5584\u3059\u308b\u5916\u79d1\u7684\u6cbb\u7642\uff08\u5f62\u6210\u5916\u79d1\u30fb\u6574\u5f62\u5916\u79d1\uff09**\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002\u767a\u9054\u9045\u6ede\u304c\u306a\u3044\u5834\u5408\u3001\u7642\u80b2\u306a\u3069\u306f\u4e0d\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5408\u6307\u75c7\u306e\u624b\u8853\uff08\u5f62\u6210\u5916\u79d1\u30fb\u6574\u5f62\u5916\u79d1\uff09<\/strong><\/p>\n\n\n\n<p>QOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u3092\u5411\u4e0a\u3055\u305b\u308b\u305f\u3081\u306e\u6a19\u6e96\u7684\u306a\u6cbb\u7642\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u624b\u8853\u306e\u76ee\u7684:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6307\u3092\u5206\u96e2\u3057\u3001\u305d\u308c\u305e\u308c\u306e\u6307\u304c\u72ec\u7acb\u3057\u3066\u52d5\u304f\u3088\u3046\u306b\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u898b\u305f\u76ee\u3092\u6574\u3048\u3001\u7cbe\u795e\u7684\u306a\u30b9\u30c8\u30ec\u30b9\u3092\u8efd\u6e1b\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u624b\u8853\u306e\u6642\u671f:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u624b:<\/strong> \u6a5f\u80fd\u767a\u9054\u306e\u89b3\u70b9\u304b\u3089\u3001<strong>1\u6b73\u301c2\u6b73\u9803<\/strong>\u306b\u884c\u3046\u306e\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u6307\u306e\u9577\u3055\u304c\u9055\u3046\u6307\u540c\u58eb\uff08\u4e2d\u6307\u3068\u85ac\u6307\u306a\u3069\uff09\u304c\u304f\u3063\u3064\u3044\u3066\u3044\u308b\u5834\u5408\u3001\u6210\u9577\u306b\u4f34\u3063\u3066\u9577\u3044\u6307\u304c\u66f2\u304c\u3063\u3066\u3057\u307e\u3046\uff08\u5c48\u66f2\u62d8\u7e2e\uff09\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u3001\u9069\u5207\u306a\u6642\u671f\u306e\u624b\u8853\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8db3:<\/strong> \u8db3\u306e\u5408\u6307\u75c7\u306f\u3001\u6b69\u884c\u306b\u652f\u969c\u304c\u306a\u3044\u9650\u308a\u624b\u8853\u3092\u884c\u308f\u306a\u3044\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002\u7f8e\u5bb9\u7684\u306a\u89b3\u70b9\u3084\u3001\u9774\u64e6\u308c\u306a\u3069\u306e\u554f\u984c\u304c\u3042\u308b\u5834\u5408\u306b\u624b\u8853\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u624b\u8853\u306e\u65b9\u6cd5\uff08\u6307\u9593\u5f62\u6210\u8853\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6307\u306e\u9593\u306e\u76ae\u819a\u3092\u5207\u958b\u3057\u3001\u30b8\u30b0\u30b6\u30b0\u306b\u7e2b\u3044\u5408\u308f\u305b\u308b\uff08Z\u5f62\u6210\u8853\uff09\u3053\u3068\u3067\u3001\u6307\u3092\u5206\u3051\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u76ae\u819a\u304c\u8db3\u308a\u306a\u3044\u5834\u5408\u306f\u3001\u8db3\u306e\u4ed8\u3051\u6839\u306a\u3069\u304b\u3089\u76ae\u819a\u3092\u79fb\u690d\uff08\u690d\u76ae\uff09\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8fd1\u5e74\u306f\u3001\u690d\u76ae\u3092\u884c\u308f\u305a\u306b\u6e08\u3080\u3088\u3046\u306a\u8853\u5f0f\u3082\u958b\u767a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u8853\u5f8c\u306e\u30b1\u30a2\u3068\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5275\u90e8\u30b1\u30a2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8853\u5f8c\u306f\u30ae\u30d7\u30b9\u3084\u5305\u5e2f\u3067\u56fa\u5b9a\u3057\u3001\u50b7\u306e\u6cbb\u7652\u3092\u5f85\u3061\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u629c\u7cf8\u5f8c\u306f\u3001\u6307\u3092\u52d5\u304b\u3059\u7df4\u7fd2\u3084\u3001\u50b7\u8de1\u304c\u786c\u304f\u306a\u3089\u306a\u3044\u3088\u3046\u306a\u30b1\u30a2\uff08\u5727\u8feb\u7642\u6cd5\u306a\u3069\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5c0f\u3055\u306a\u5b50\u4f9b\u306e\u5834\u5408\u3001\u904a\u3073\u306e\u4e2d\u3067\u81ea\u7136\u306b\u624b\u3092\u4f7f\u3046\u3088\u3046\u306b\u4fc3\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u3082\u91cd\u8981\u306a\u30b1\u30a2\u306e\u4e00\u3064\u3067\u3059\u3002<\/strong><\/li>\n\n\n\n<li><strong>\u8a3a\u65ad\u306e\u53d7\u3051\u6b62\u3081:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u300c\u67d3\u8272\u4f53\u7570\u5e38\u300d\u3068\u3044\u3046\u8a00\u8449\u306b\u30b7\u30e7\u30c3\u30af\u3092\u53d7\u3051\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u3053\u306e\u30bf\u30a4\u30d7\uff082q35\u91cd\u8907\uff09\u306f\u3001**\u300c\u624b\u8db3\u306e\u7279\u5fb4\u4ee5\u5916\u306f\u5065\u5eb7\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u300d**\u3068\u3044\u3046\u3053\u3068\u3092\u6b63\u3057\u304f\u7406\u89e3\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3059\u308b\u3068\u3001\u4ed6\u306e\u91cd\u7be4\u306a\u67d3\u8272\u4f53\u7570\u5e38\u306e\u60c5\u5831\u304c\u6df7\u3056\u3063\u3066\u51fa\u3066\u304f\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u533a\u5225\u3057\u3066\u8003\u3048\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\u3078\u306e\u7406\u89e3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304b\u3089\u907a\u4f1d\u3057\u305f\u5834\u5408\u3001\u300c\u81ea\u5206\u306e\u305b\u3044\u3067\u300d\u3068\u60a9\u307e\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3057\u304b\u3057\u3001\u5408\u6307\u75c7\u306f\u624b\u8853\u3067\u5341\u5206\u306b\u304d\u308c\u3044\u306b\u6cbb\u3059\u3053\u3068\u304c\u3067\u304d\u3001\u6a5f\u80fd\u7684\u306b\u3082\u554f\u984c\u306a\u304f\u751f\u6d3b\u3067\u304d\u308b\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u300c\u624b\u8853\u3092\u3059\u308c\u3070\u5927\u4e08\u592b\u300d\u300c\u547d\u306b\u95a2\u308f\u308b\u75c5\u6c17\u3067\u306f\u306a\u3044\u300d\u3068\u3044\u3046\u524d\u5411\u304d\u306a\u898b\u901a\u3057\u3092\u5171\u6709\u3059\u308b\u3053\u3068\u304c\u5927\u5207\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>2q35 duplication syndrome\u306f\u30012\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u3001\u7279\u306b\u624b\u8db3\u306e\u5f62\u6210\u306b\u95a2\u308f\u308bIHH\u907a\u4f1d\u5b50\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u4f53\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u624b\u3084\u8db3\u306e\u6307\u304c\u304f\u3063\u3064\u3044\u3066\u3044\u308b\uff08\u5408\u6307\u75c7\uff09\u3053\u3068\u3067\u3059\u3002\u7279\u306b\u3001\u624b\u306e\u4e2d\u6307\u3068\u85ac\u6307\u3001\u8db3\u306e\u4eba\u5dee\u3057\u6307\u3068\u4e2d\u6307\u306b\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u67d3\u8272\u4f53\u7570\u5e38\u300d\u3068\u8a3a\u65ad\u3055\u308c\u308b\u3068\u3001\u767a\u9054\u3084\u77e5\u80fd\u3078\u306e\u5f71\u97ff\u3092\u5fc3\u914d\u3055\u308c\u308b\u3068\u601d\u3044\u307e\u3059\u304c\u3001\u3053\u306e\u75be\u60a3\uff08\u7279\u306b\u5408\u6307\u75c7\u3092\u4e3b\u8a34\u3068\u3059\u308b\u30bf\u30a4\u30d7\uff09\u306b\u304a\u3044\u3066\u306f\u3001\u77e5\u80fd\u3084\u5185\u81d3\u306f\u5168\u304f\u6b63\u5e38\u3067\u3001\u5143\u6c17\u306b\u6210\u9577\u3055\u308c\u308b\u304a\u5b50\u3055\u3093\u304c\u5927\u591a\u6570\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u624b\u8db3\u306e\u7279\u5fb4\u306b\u3064\u3044\u3066\u306f\u3001\u5f62\u6210\u5916\u79d1\u3067\u306e\u624b\u8853\u306b\u3088\u3063\u3066\u3001\u6307\u3092\u304d\u308c\u3044\u306b\u5206\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9069\u5207\u306a\u6642\u671f\uff081\u301c2\u6b73\u9803\uff09\u306b\u624b\u8853\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u925b\u7b46\u3092\u6301\u3063\u305f\u308a\u3001\u697d\u5668\u3092\u6f14\u594f\u3057\u305f\u308a\u3068\u3044\u3063\u305f\u7d30\u304b\u3044\u52d5\u4f5c\u3082\u3001\u554f\u984c\u306a\u304f\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306e\u4e2d\u306b\u540c\u3058\u7279\u5fb4\u3092\u6301\u3064\u65b9\u304c\u3044\u3089\u3063\u3057\u3083\u308b\u5834\u5408\uff08\u907a\u4f1d\uff09\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u547d\u306b\u95a2\u308f\u308b\u3088\u3046\u306a\u75c5\u6c17\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u300c\u624b\u8db3\u306e\u5f62\u304c\u5c11\u3057\u500b\u6027\u7684\u3060\u3051\u308c\u3069\u3001\u624b\u8853\u3067\u6cbb\u305b\u308b\u4f53\u8cea\u300d\u3068\u6349\u3048\u3066\u3044\u305f\u3060\u304d\u3001\u524d\u5411\u304d\u306b\u6cbb\u7642\u306b\u53d6\u308a\u7d44\u3093\u3067\u3044\u305f\u3060\u3051\u308c\u3070\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306e\u5065\u3084\u304b\u306a\u6210\u9577\u3068\u3001\u304d\u308c\u3044\u306a\u624b\u8db3\u3067\u306e\u751f\u6d3b\u3092\u3001\u533b\u7642\u30c1\u30fc\u30e0\u304c\u5168\u529b\u3067\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Klopocki, E., et al.<\/strong> (2011). <em>Copy number variants involving the IHH locus are associated with syndactyly type 1 and type 3.<\/em> American Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203bIHH\u907a\u4f1d\u5b50\u5ea7\u306e\u91cd\u8907\u304c\u5408\u6307\u75c71\u578b\u306e\u4e3b\u8981\u306a\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u7a81\u304d\u6b62\u3081\u3001\u305d\u306e\u5206\u5b50\u30e1\u30ab\u30cb\u30ba\u30e0\uff08\u30a8\u30f3\u30cf\u30f3\u30b5\u30fc\u91cd\u8907\u306a\u3069\uff09\u3092\u8a73\u7d30\u306b\u89e3\u660e\u3057\u305f\u3001\u672c\u75be\u60a3\u306b\u304a\u3051\u308b\u6700\u3082\u91cd\u8981\u306a\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Lohan, S., et al.<\/strong> (2016). <em>Microduplications of 2q35 encompassing the IHH gene locus are associated with syndactyly type 1.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b2q35\u5fae\u7d30\u91cd\u8907\u3092\u6301\u3064\u8907\u6570\u306e\u5bb6\u7cfb\u3092\u89e3\u6790\u3057\u3001\u8868\u73fe\u578b\uff08\u5408\u6307\u75c7\u306e\u30bf\u30a4\u30d7\uff09\u3068\u907a\u4f1d\u5b50\u578b\u306e\u95a2\u9023\u3092\u5831\u544a\u3002\u767a\u9054\u9045\u6ede\u3092\u4f34\u308f\u306a\u3044\u7d14\u7c8b\u306a\u5408\u6307\u75c7\u4f8b\u304c\u591a\u3044\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u308b\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-17023","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\/17023","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\/17023\/revisions"}],"predecessor-version":[{"id":17026,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17023\/revisions\/17026"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17023"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}