{"id":16753,"date":"2026-01-20T01:54:03","date_gmt":"2026-01-20T01:54:03","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16753"},"modified":"2026-01-20T02:13:09","modified_gmt":"2026-01-20T02:13:09","slug":"17q23-1-q23-2-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/17q23-1-q23-2-deletion-syndrome\/","title":{"rendered":"17q23.1-q23.2 deletion 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>17q23.1-q23.2\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>17q23.1-q23.2\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff0817q23.1-q23.2 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>17q23\u5fae\u7d30\u6b20\u5931\uff0817q23 microdeletion\uff09<\/li>\n\n\n\n<li>TBX4\u95a2\u9023\u969c\u5bb3\uff08TBX4-related disorder\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u5c0f\u819d\u84cb\u9aa8\u75c7\u5019\u7fa4\uff08Small patella syndrome; SPS\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308b<em>TBX4<\/em>\u907a\u4f1d\u5b50\u5358\u72ec\u306e\u5909\u7570\u3067\u8d77\u3053\u308b\u75be\u60a3\u3067\u3001\u672c\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u75c7\u72b6\u304c\u4e00\u90e8\u91cd\u8907\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u5750\u9aa8\u30fb\u819d\u84cb\u9aa8\u30fb\u5f62\u6210\u4e0d\u5168\u75c7\uff08Ischiocoxopodopatellar syndrome; ICPPS\uff09<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>17\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0923.1\u304b\u308923.2\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e17\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306b\u3042\u308b\u300c23.1\u300d\u304b\u3089\u300c23.2\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\uff08\u30b3\u30d4\u30fc\u6570\u304c1\u3064\u306b\u306a\u308b\uff1a\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u6b20\u5931\u30bf\u30a4\u30d7\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u30b5\u30a4\u30ba:<br>\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u6b20\u5931\u306e\u7bc4\u56f2\u306f\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u5178\u578b\u7684\u306a\u6b20\u5931\u30b5\u30a4\u30ba\u306f\u7d042.2\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u4e3b\u8981\u306a\u8cac\u4efb\u907a\u4f1d\u5b50:<br>\u3053\u306e\u9818\u57df\u306b\u306f\u7d0420\u500b\u7a0b\u5ea6\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u306a\u75c7\u72b6\uff08\u9aa8\u683c\u3001\u5fc3\u81d3\u3001\u80ba\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u539f\u56e0\u3068\u3057\u3066\u7279\u5b9a\u3055\u308c\u3066\u3044\u308b\u306e\u304c\u3001T-box\u30d5\u30a1\u30df\u30ea\u30fc\u306b\u5c5e\u3059\u308b\u4ee5\u4e0b\u306e2\u3064\u306e\u8ee2\u5199\u56e0\u5b50\u907a\u4f1d\u5b50\u3067\u3059\u3002\n<ul class=\"wp-block-list\">\n<li><strong>TBX4 (T-Box Transcription Factor 4):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u4e0b\u80a2\u306e\u5f62\u6210:<\/strong> \u80ce\u5150\u671f\u306b\u300c\u811a\uff08\u4e0b\u80a2\uff09\u300d\u304c\u4f5c\u3089\u308c\u308b\u969b\u306e\u53f8\u4ee4\u5854\u3068\u306a\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u306e\u6a5f\u80fd\u4e0d\u5168\u306b\u3088\u308a\u3001\u819d\u84cb\u9aa8\uff08\u819d\u306e\u304a\u76bf\uff09\u3084\u9aa8\u76e4\u3001\u8db3\u306e\u9aa8\u306e\u5f62\u6210\u7570\u5e38\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u80ba\u306e\u8840\u7ba1\u5f62\u6210:<\/strong> \u80ba\u306e\u8840\u7ba1\u306e\u767a\u9054\u306b\u3082\u95a2\u4e0e\u3057\u3066\u304a\u308a\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306f**\u80ba\u52d5\u8108\u6027\u80ba\u9ad8\u8840\u5727\u75c7\uff08PAH\uff09**\u306e\u5f37\u529b\u306a\u30ea\u30b9\u30af\u56e0\u5b50\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>TBX2 (T-Box Transcription Factor 2):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u81d3\u306e\u5f62\u6210:<\/strong> \u5fc3\u81d3\u306e\u767a\u751f\u3001\u7279\u306b\u5f01\u3084\u4e2d\u9694\u3001\u6d41\u51fa\u8def\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u306e\u6b20\u5931\u304c\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306e\u539f\u56e0\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u3064\u307e\u308a\u300117q23.1-q23.2\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001<em>TBX4<\/em>\u6b20\u5931\u306b\u3088\u308b\u9aa8\u30fb\u80ba\u306e\u75c7\u72b6\u3068\u3001<em>TBX2<\/em>\u6b20\u5931\u306b\u3088\u308b\u5fc3\u81d3\u306e\u75c7\u72b6\u3001\u305d\u3057\u3066\u5468\u8fba\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u308b\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u5408\u308f\u3055\u3063\u305f**\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d**\u3068\u3057\u3066\u7406\u89e3\u3055\u308c\u3066\u3044\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>\u975e\u5e38\u306b\u7a00\uff08Very Rare\uff09<\/strong><\/p>\n\n\n\n<p>17q23.1-q23.2\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\uff08Rare Chromosome Disorder\uff09\u306e\u4e00\u3064\u3067\u3042\u308a\u3001\u6b63\u78ba\u306a\u75ab\u5b66\u7684\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u3067\u306e\u5831\u544a\u6570\u306f\u6570\u5341\u4f8b\u898f\u6a21\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u75c7\u72b6\u306e\u4e00\u90e8\uff08\u4f8b\u3048\u3070\u3001\u819d\u306e\u304a\u76bf\u304c\u5c0f\u3055\u3044\u3053\u3068\u3084\u3001\u8efd\u5ea6\u306e\u767a\u9054\u9045\u6ede\uff09\u306f\u898b\u904e\u3054\u3055\u308c\u3084\u3059\u304f\u3001\u307e\u305f\u80ba\u9ad8\u8840\u5727\u75c7\u306e\u539f\u56e0\u3068\u3057\u3066\u5f8c\u304b\u3089\u5224\u660e\u3059\u308b\u3053\u3068\u3082\u3042\u308b\u305f\u3081\u3001\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u6f5c\u5728\u7684\u306a\u60a3\u8005\u6570\u306f\u5831\u544a\u3088\u308a\u3082\u591a\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a\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>17q23.1-q23.2 deletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u9aa8\u683c\u7570\u5e38\u300d\u300c\u5fc3\u75be\u60a3\u300d\u300c\u80ba\u9ad8\u8840\u5727\u75c7\u300d\u300c\u767a\u9054\u9045\u6ede\u300d**\u306e4\u3064\u304c\u5927\u304d\u306a\u67f1\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u9aa8\u306e\u5f62\u306e\u7279\u5fb4\u306f\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u9aa8\u683c\u30fb\u56db\u80a2\u306e\u7570\u5e38\uff08TBX4\u95a2\u9023\uff09<\/strong><\/p>\n\n\n\n<p><em>TBX4<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u308a\u3001\u4e0b\u534a\u8eab\u306e\u9aa8\u683c\u5f62\u6210\u306b\u7279\u5fb4\u7684\u306a\u7570\u5e38\u304c\u73fe\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u300c\u5c0f\u819d\u84cb\u9aa8\u75c7\u5019\u7fa4\uff08Small patella syndrome\uff09\u300d\u306e\u75c7\u72b6\u3068\u5171\u901a\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u819d\u84cb\u9aa8\u306e\u4f4e\u5f62\u6210\u30fb\u7121\u5f62\u6210\uff08Small or absent patella\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u819d\u306e\u304a\u76bf\uff08\u819d\u84cb\u9aa8\uff09\u304c\u751f\u307e\u308c\u3064\u304d\u5c0f\u3055\u3044\u3001\u3042\u308b\u3044\u306f\u6b20\u640d\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5916\u898b\u4e0a\u306f\u819d\u304c\u5e73\u5766\u306b\u898b\u3048\u305f\u308a\u3001\u819d\u84cb\u9aa8\u304c\u5916\u308c\u3084\u3059\u3044\uff08\u8131\u81fc\u3057\u3084\u3059\u3044\uff09\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u819d\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\u64ae\u5f71\u3067\u767a\u898b\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9aa8\u76e4\u306e\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5750\u9aa8\u3068\u6065\u9aa8\u306e\u7d50\u5408\u90e8\u5206\u306e\u9aa8\u5316\uff08\u9aa8\u306b\u306a\u308b\u3053\u3068\uff09\u304c\u9045\u308c\u308b\u3001\u3042\u308b\u3044\u306f\u4e0d\u5b8c\u5168\u3067\u3042\u308b\u3068\u3044\u3046\u7279\u5fb4\uff08Ischiopubic ossification delay\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u30ec\u30f3\u30c8\u30b2\u30f3\u4e0a\u306e\u7279\u5fb4\u7684\u306a\u6240\u898b\u3067\u3059\u304c\u3001\u751f\u6d3b\u4e0a\u306e\u652f\u969c\u306f\u5c11\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8db3\u306e\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8db3\u306e\u6307\u306e\u9593\u304c\u5e83\u3044\uff08\u7279\u306b\u89aa\u6307\u3068\u4eba\u5dee\u3057\u6307\u306e\u9593\uff1aSandal gap\uff09\u3002<\/li>\n\n\n\n<li>\u504f\u5e73\u8db3\u3001\u5185\u53cd\u8db3\uff08\u8db3\u304c\u5185\u5074\u3092\u5411\u3044\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li>\u7b2c4\u30fb5\u4e2d\u8db3\u9aa8\uff08\u8db3\u306e\u7532\u306e\u9aa8\uff09\u306e\u77ed\u7e2e\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u547c\u5438\u5668\u30fb\u5faa\u74b0\u5668\u75c7\u72b6\uff08\u80ba\u9ad8\u8840\u5727\u75c7\uff09<\/strong><\/p>\n\n\n\n<p><strong>\u751f\u547d\u4e88\u5f8c\u306b\u95a2\u308f\u308b\u6700\u3082\u91cd\u8981\u306a\u5408\u4f75\u75c7\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80ba\u52d5\u8108\u6027\u80ba\u9ad8\u8840\u5727\u75c7\uff08PAH\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u81d3\u304b\u3089\u80ba\u3078\u8840\u6db2\u3092\u9001\u308b\u8840\u7ba1\uff08\u80ba\u52d5\u8108\uff09\u306e\u8840\u5727\u304c\u7570\u5e38\u306b\u9ad8\u304f\u306a\u308b\u75c5\u6c17\u3067\u3059\u3002<\/li>\n\n\n\n<li><em>TBX4<\/em>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3084\u6b20\u5931\u306f\u3001\u5c0f\u5150\u671f\u767a\u75c7\u307e\u305f\u306f\u6210\u4eba\u767a\u75c7\u306e\u907a\u4f1d\u6027PAH\u306e\u4e3b\u8981\u306a\u539f\u56e0\u306e\u4e00\u3064\u3067\u3042\u308b\u3053\u3068\u304c\u8fd1\u5e74\u660e\u3089\u304b\u306b\u306a\u308a\u307e\u3057\u305f\u3002<\/li>\n\n\n\n<li><strong>\u75c7\u72b6:<\/strong> \u52b4\u4f5c\u6642\u306e\u606f\u5207\u308c\uff08\u904b\u52d5\u3059\u308b\u3068\u606f\u304c\u5207\u308c\u308b\uff09\u3001\u75b2\u308c\u3084\u3059\u3044\u3001\u5931\u795e\u3001\u80f8\u75db\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u767a\u75c7\u6642\u671f:<\/strong> \u4e73\u5e7c\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u3053\u3068\u3082\u3042\u308c\u3070\u3001\u6210\u4eba\u306b\u306a\u3063\u3066\u304b\u3089\u767a\u75c7\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3067\u3059\u3002\u307e\u305f\u3001\u5168\u3066\u306e\u60a3\u8005\u3055\u3093\u304c\u767a\u75c7\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u72b6\u614b\u306b\u3042\u308b\u3053\u3068\u306f\u9593\u9055\u3044\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08TBX2\u95a2\u9023\uff09<\/strong><\/p>\n\n\n\n<p><em>TBX2<\/em>\u907a\u4f1d\u5b50\u306a\u3069\u306e\u6b20\u5931\u306b\u3088\u308a\u3001\u7d04\u534a\u6570\u4ee5\u4e0a\u306e\u60a3\u8005\u3055\u3093\u306b\u5fc3\u75be\u60a3\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09:<\/strong> \u6700\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u5fc3\u75be\u60a3\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09:<\/strong> \u5fc3\u5ba4\u306e\u58c1\u306b\u7a74\u304c\u958b\u3044\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong> \u52d5\u8108\u7ba1\u958b\u5b58\u75c7\uff08PDA\uff09\u3001\u5927\u52d5\u8108\u306e\u7570\u5e38\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u8eab\u4f53\u7684\u306a\u75c7\u72b6\u306b\u52a0\u3048\u3066\u3001\u767a\u9054\u9762\u3078\u306e\u5f71\u97ff\u3082\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u6ede\uff08DD\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u304c\u9045\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\uff08\u9aa8\u683c\u306e\u554f\u984c\u3082\u5f71\u97ff\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\uff09\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u9045\u308c\u3082\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u6b63\u5e38\u7bc4\u56f2\u306e\u77e5\u80fd\u3092\u6301\u3064\u65b9\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u91cd\u5ea6\u306e\u969c\u5bb3\u306f\u6bd4\u8f03\u7684\u7a00\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u3084\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u306a\u3069\u306e\u884c\u52d5\u7279\u6027\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u8eab\u4f53\u7684\u7279\u5fb4<\/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\u76ee\u7acb\u305f\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u5c0f\u982d\u75c7\uff08\u982d\u304c\u5c0f\u3055\u3044\uff09\u3001\u5e83\u3044\u984d\u3001\u773c\u9593\u958b\u96e2\u3001\u4f4e\u3044\u9f3b\u6839\u3001\u5c0f\u3055\u306a\u984e\u306a\u3069\u306e\u5fae\u7d30\u306a\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6210\u9577:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u6642\u306e\u4f53\u683c\u306f\u6b63\u5e38\u7bc4\u56f2\u5185\u3067\u3082\u3001\u51fa\u751f\u5f8c\u306b\u6210\u9577\u304c\u3086\u3063\u304f\u308a\u3068\u306a\u308a\u3001\u4f4e\u8eab\u9577\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\uff08Postnatal growth retardation\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8074\u899a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u96e3\u8074\uff08\u611f\u97f3\u6027\u307e\u305f\u306f\u4f1d\u97f3\u6027\uff09\u306e\u5408\u4f75\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>17\u756a\u67d3\u8272\u4f53\u9577\u8155\uff0817q23.1-q23.2\uff09\u306b\u304a\u3051\u308b\u7d042.2Mb\u306e\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. TBX4\u3068TBX2\u306e\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u7406\u89e3\u3059\u308b\u306b\u306f\u3001\u300cT-box\uff08\u30c6\u30a3\u30fc\u30dc\u30c3\u30af\u30b9\uff09\u300d\u907a\u4f1d\u5b50\u30d5\u30a1\u30df\u30ea\u30fc\u306e\u5f79\u5272\u3092\u77e5\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>T-box\u907a\u4f1d\u5b50\u306f\u3001\u4f53\u306e\u8a2d\u8a08\u56f3\u306b\u304a\u3051\u308b\u300c\u5efa\u7bc9\u5bb6\u300d\u306e\u3088\u3046\u306a\u5b58\u5728\u3067\u3001\u624b\u8db3\u3084\u5fc3\u81d3\u3092\u3069\u3053\u306b\u3001\u3069\u306e\u3088\u3046\u306a\u5f62\u3067\u4f5c\u308b\u304b\u3092\u6307\u4ee4\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>TBX4\u306e\u5f79\u5272:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e3b\u306b**\u300c\u5f8c\u308d\u8db3\uff08\u4e0b\u80a2\uff09\u300d<strong>\u3068<\/strong>\u300c\u80ba\u30fb\u6c17\u7ba1\u300d**\u306e\u5f62\u6210\u3092\u6307\u4ee4\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u80ce\u5150\u671f\u306b<em>TBX4<\/em>\u304c\u4e0d\u8db3\u3059\u308b\u3068\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3001\u819d\u306e\u304a\u76bf\u3084\u9aa8\u76e4\u304c\u5341\u5206\u306b\u767a\u9054\u3057\u307e\u305b\u3093\u3002\u307e\u305f\u3001\u80ba\u306e\u4e2d\u306e\u8840\u7ba1\u7db2\u304c\u6b63\u3057\u304f\u4f5c\u3089\u308c\u305a\u3001\u5c06\u6765\u7684\u306b\u80ba\u9ad8\u8840\u5727\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059\u7d20\u5730\u304c\u3067\u304d\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>TBX2\u306e\u5f79\u5272:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u81d3<\/strong>\u306e\u90e8\u5c4b\u3092\u5206\u3051\u308b\u58c1\u3084\u3001\u5f01\u306e\u5f62\u6210\u306b\u95a2\u308f\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><em>TBX2<\/em>\u304c\u4e0d\u8db3\u3059\u308b\u3068\u3001\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069\u306e\u69cb\u9020\u7570\u5e38\u304c\u8d77\u3053\u308a\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>17q23.1-q23.2\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u306f\u3001\u3053\u308c\u30892\u3064\u306e\u91cd\u8981\u306a\u300c\u5efa\u7bc9\u5bb6\u300d\u304c\u3044\u3063\u307a\u3093\u306b\u4e0d\u8db3\u3057\u3066\u3057\u307e\u3046\u305f\u3081\u3001\u9aa8\u3068\u5fc3\u81d3\u3068\u80ba\u306b\u8907\u5408\u7684\u306a\u30c8\u30e9\u30d6\u30eb\u304c\u751f\u3058\u308b\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>2. \u767a\u751f\u6a5f\u5e8f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u75c7\u4f8b\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u767a\u7684\u306b\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u907a\u4f1d\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u540c\u3058\u6b20\u5931\uff08\u3042\u308b\u3044\u306f<em>TBX4<\/em>\u5909\u7570\uff09\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306f\u300c\u819d\u304c\u5c11\u3057\u5c0f\u3055\u3044\u3060\u3051\u300d\u300c\u8efd\u5ea6\u306e\u80ba\u9ad8\u8840\u5727\u300d\u306a\u3069\u3067\u8a3a\u65ad\u3055\u308c\u3066\u304a\u3089\u305a\u3001\u5b50\u4f9b\u304c\u91cd\u75c7\u5316\u3057\u3066\u521d\u3081\u3066\u907a\u4f1d\u8981\u56e0\u304c\u5224\u660e\u3059\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u5b50\u3078\u306e\u907a\u4f1d\u78ba\u7387\u306f50%\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\uff09\u3067\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\u819d\u306e\u304a\u76bf\u304c\u5c0f\u3055\u3044\u300d\u300c\u5fc3\u81d3\u75c5\u304c\u3042\u308b\u300d\u300c\u767a\u80b2\u304c\u3086\u3063\u304f\u308a\u300d\u3068\u3044\u3063\u305f\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u304b\u3089\u7591\u308f\u308c\u307e\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:<\/strong>\n<ul class=\"wp-block-list\">\n<li>17q23.1-q23.2\u9818\u57df\u306e\u6b20\u5931\u3092\u78ba\u5b9f\u306b\u691c\u51fa\u3067\u304d\u308b\u3001\u73fe\u5728\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u7bc4\u56f2\u306b<em>TBX4<\/em>\u3068<em>TBX2<\/em>\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9aa8\u683c\u30ec\u30f3\u30c8\u30b2\u30f3\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u819d\uff08\u819d\u84cb\u9aa8\u4f4e\u5f62\u6210\uff09\u3001\u9aa8\u76e4\uff08\u5750\u9aa8\u6065\u9aa8\u306e\u9aa8\u5316\u9045\u5ef6\uff09\u306e\u7279\u5fb4\u7684\u306a\u6240\u898b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u8a3a\u65ad\u306e\u5f37\u529b\u306a\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u540c\u6642\u306b\u3001<strong>\u80ba\u52d5\u8108\u5727\u306e\u63a8\u5b9a<\/strong>\u3092\u884c\u3044\u3001\u80ba\u9ad8\u8840\u5727\u75c7\u306e\u5146\u5019\u304c\u306a\u3044\u304b\u30c1\u30a7\u30c3\u30af\u3059\u308b\u3053\u3068\u304c\u6975\u3081\u3066\u91cd\u8981\u3067\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>\u6b20\u5931\u3057\u305f\u67d3\u8272\u4f53\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\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\u81d3\u5668\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u9577\u671f\u7684\u306a**\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff08\u76e3\u8996\uff09**\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u80ba\u9ad8\u8840\u5727\u75c7\uff08PAH\uff09\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<p><strong>\u6700\u512a\u5148\u306e\u7ba1\u7406\u9805\u76ee\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b9a\u671f\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u75c7\u72b6\uff08\u606f\u5207\u308c\u306a\u3069\uff09\u304c\u306a\u304f\u3066\u3082\u3001\u5b9a\u671f\u7684\u306b\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u3092\u884c\u3044\u3001\u80ba\u9ad8\u8840\u5727\u306e\u5146\u5019\u3092\u65e9\u671f\u306b\u767a\u898b\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u78ba\u5b9a\u8a3a\u65ad\u3084\u91cd\u75c7\u5ea6\u8a55\u4fa1\u306e\u305f\u3081\u306b\u3001\u5fc3\u81d3\u30ab\u30c6\u30fc\u30c6\u30eb\u691c\u67fb\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u85ac\u7269\u7642\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u80ba\u9ad8\u8840\u5727\u75c7\u3068\u8a3a\u65ad\u3055\u308c\u305f\u5834\u5408\u3001\u80ba\u8840\u7ba1\u62e1\u5f35\u85ac\uff08\u5185\u670d\u3001\u5438\u5165\u3001\u70b9\u6ef4\u306a\u3069\uff09\u3092\u7528\u3044\u305f\u5c02\u9580\u7684\u306a\u6cbb\u7642\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u65e9\u671f\u6cbb\u7642\u304c\u4e88\u5f8c\u3092\u6539\u5584\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5faa\u74b0\u5668\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069\u304c\u3042\u308b\u5834\u5408\u3001\u7a74\u306e\u5927\u304d\u3055\u3084\u5fc3\u4e0d\u5168\u306e\u7a0b\u5ea6\u306b\u5fdc\u3058\u3066\u3001\u7d4c\u904e\u89b3\u5bdf\u3084\u624b\u8853\uff08\u30ab\u30c6\u30fc\u30c6\u30eb\u6cbb\u7642\u3084\u958b\u80f8\u624b\u8853\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u6574\u5f62\u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u819d\u30fb\u8db3\u306e\u7ba1\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u819d\u84cb\u9aa8\u306e\u8131\u81fc\u3092\u7e70\u308a\u8fd4\u3059\u5834\u5408\u3084\u3001\u6b69\u884c\u306b\u652f\u969c\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u30b5\u30dd\u30fc\u30bf\u30fc\u306e\u4f7f\u7528\u3084\u624b\u8853\uff08\u819d\u84cb\u9aa8\u306e\u6574\u5fa9\u8853\u306a\u3069\uff09\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u504f\u5e73\u8db3\u3084\u5185\u53cd\u8db3\u306b\u5bfe\u3057\u3066\u306f\u3001\u8db3\u5e95\u677f\uff08\u30a4\u30f3\u30bd\u30fc\u30eb\uff09\u3084\u77ef\u6b63\u9774\u3092\u4f7f\u7528\u3057\u3001\u5b89\u5b9a\u3057\u305f\u6b69\u884c\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u767a\u9054\u30fb\u6559\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u306e\u9045\u308c\u304c\u3042\u308b\u5834\u5408\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u65e9\u671f\u304b\u3089\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306b\u306f\u3001\u7b4b\u529b\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\u3060\u3051\u3067\u306a\u304f\u3001\u9aa8\u683c\u7684\u306a\u554f\u984c\uff08\u819d\u3084\u8db3\uff09\u3078\u306e\u914d\u616e\u3082\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6559\u80b2\u74b0\u5883:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u5408\u308f\u305b\u3001\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u306e\u9069\u5207\u306a\u6559\u80b2\u74b0\u5883\u3092\u9078\u629e\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>\u672c\u75be\u60a3\u306f\u300c\u9aa8\u306e\u75c5\u6c17\u300d\u3068\u3057\u3066\u306e\u5074\u9762\u3068\u3001\u300c\u80ba\u3084\u5fc3\u81d3\u306e\u75c5\u6c17\u300d\u3068\u3057\u3066\u306e\u5074\u9762\u3001\u305d\u3057\u3066\u300c\u767a\u9054\u306e\u75c5\u6c17\u300d\u3068\u3057\u3066\u306e\u5074\u9762\u3092\u4f75\u305b\u6301\u3061\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b\u80ba\u9ad8\u8840\u5727\u75c7\u306e\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u306f\u3001\u5bb6\u65cf\u5168\u54e1\uff08\u7279\u306b\u89aa\u3084\u304d\u3087\u3046\u3060\u3044\uff09\u306b\u95a2\u308f\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b66\u7684\u30ea\u30b9\u30af\u8a55\u4fa1\u3068\u691c\u8a3a\u306e\u5fc5\u8981\u6027\u306b\u3064\u3044\u3066\u3001\u5c02\u9580\u5bb6\u3068\u76f8\u8ac7\u3059\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>17q23.1-q23.2 deletion syndrome\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u3001\u9aa8\u3001\u5fc3\u81d3\u3001\u80ba\u3001\u305d\u3057\u3066\u767a\u9054\u306b\u5f71\u97ff\u304c\u51fa\u308b\u5148\u5929\u6027\u306e\u4f53\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u5fb4\u7684\u306a\u306e\u306f\u300c\u819d\u306e\u304a\u76bf\u304c\u5c0f\u3055\u3044\u300d\u3068\u3044\u3046\u9aa8\u306e\u75c7\u72b6\u3067\u3059\u304c\u3001\u898b\u305f\u76ee\u3067\u306f\u5206\u304b\u3089\u306a\u3044\u300c\u80ba\u9ad8\u8840\u5727\u75c7\u300d\u306e\u30ea\u30b9\u30af\u3092\u6301\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u533b\u5b66\u7684\u306b\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u80ba\u9ad8\u8840\u5727\u75c7\u306f\u3001\u521d\u671f\u306b\u306f\u75c7\u72b6\u304c\u51fa\u306b\u304f\u3044\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u306b\u3088\u308b\u30c1\u30a7\u30c3\u30af\u304c\u3001\u304a\u5b50\u3055\u3093\u306e\u5065\u5eb7\u3068\u547d\u3092\u5b88\u308b\u9375\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u306e\u30da\u30fc\u30b9\u306f\u3086\u3063\u304f\u308a\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u306f\u660e\u308b\u304f\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9aa8\u683c\u306e\u30b1\u30a2\u3001\u5fc3\u81d3\u3068\u80ba\u306e\u5b9a\u671f\u691c\u8a3a\u3001\u305d\u3057\u3066\u767a\u9054\u306b\u5408\u308f\u305b\u305f\u7642\u80b2\u7684\u30b5\u30dd\u30fc\u30c8\u3002\u3053\u306e3\u3064\u3092\u30d0\u30e9\u30f3\u30b9\u3088\u304f\u884c\u3046\u3053\u3068\u3067\u3001\u5408\u4f75\u75c7\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u306a\u304c\u3089\u3001\u305d\u306e\u5b50\u3089\u3057\u3044\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\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>Ballif, B.C., et al.<\/strong> (2010). <em>17q23.1q23.2 microdeletion syndrome: a newly recognized contiguous gene deletion syndrome involving TBX2 and TBX4.<\/em> European Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b17q23.1-q23.2\u6b20\u5931\u75c7\u5019\u7fa4\u3092\u65b0\u3057\u3044\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3068\u3057\u3066\u5b9a\u7fa9\u3057\u3001TBX2\u3068TBX4\u306e\u95a2\u4e0e\u3092\u660e\u3089\u304b\u306b\u3057\u305f\u3001\u672c\u75be\u60a3\u306e\u6982\u5ff5\u3092\u78ba\u7acb\u3057\u305f\u6700\u3082\u91cd\u8981\u306a\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Szafranski, P., et al.<\/strong> (2016). <em>Small patella syndrome mutations and probable copy number variations in the TBX4 gene.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bSmall patella syndrome\u306e\u539f\u56e0\u3068\u3057\u3066\u306eTBX4\u5909\u7570\/\u6b20\u5931\u306b\u3064\u3044\u3066\u89e3\u6790\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Kerstjens-Frederikse, W.S., et al.<\/strong> (2013). <em>TBX4 mutations (small patella syndrome) are a common cause of childhood-onset pulmonary arterial hypertension.<\/em> Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203bTBX4\u7570\u5e38\u304c\u5c0f\u5150\u671f\u767a\u75c7\u306e\u80ba\u9ad8\u8840\u5727\u75c7\u306e\u4e3b\u8981\u306a\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u7a81\u304d\u6b62\u3081\u3001\u9aa8\u683c\u7570\u5e38\u3068\u306e\u95a2\u9023\u3092\u793a\u3057\u305f\u753b\u671f\u7684\u306a\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Smets, K., et al.<\/strong> (2012). <em>De novo 17q23.1q23.2 deletion in a girl with cerebellar hypoplasia and distinct dysmorphic features.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5c0f\u8133\u4f4e\u5f62\u6210\u3092\u4f34\u3046\u75c7\u4f8b\u5831\u544a\u3002\u81e8\u5e8a\u75c7\u72b6\u306e\u591a\u69d8\u6027\u306b\u3064\u3044\u3066\u306e\u77e5\u898b\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>TBX4<\/em> (Haploinsufficiency score: 3 &#8211; Sufficient evidence), <em>TBX2<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203bTBX4\u304a\u3088\u3073TBX2\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff08\u6b20\u5931\uff09\u304c\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u306e\u79d1\u5b66\u7684\u6839\u62e0\u8a55\u4fa1\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>17q23 microdeletions<\/em> (2017).\n<ul class=\"wp-block-list\">\n<li>(\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306e\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002\u751f\u6d3b\u4e0a\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u304c\u8a18\u8f09\u3055\u308c\u3066\u3044\u307e\u3059\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-16753","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\/16753","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\/16753\/revisions"}],"predecessor-version":[{"id":16761,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16753\/revisions\/16761"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16753"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}