{"id":17462,"date":"2026-01-22T05:33:42","date_gmt":"2026-01-22T05:33:42","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17462"},"modified":"2026-01-22T05:34:28","modified_gmt":"2026-01-22T05:34:28","slug":"split-hand-foot-malformation-1-shfm1","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/split-hand-foot-malformation-1-shfm1\/","title":{"rendered":"Split-hand\/foot malformation 1 (SHFM1)"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>SHFM1<\/strong><\/li>\n\n\n\n<li><strong>\u4e2d\u5fc3\u6027\u6b20\u640d\uff08Central ray deficiency\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u8766\u87c7\u624b\u30fb\u8766\u87c7\u8db3\u5947\u5f62\uff08Lobster claw malformation\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u6b74\u53f2\u7684\u306a\u547c\u79f0\u3067\u3059\u304c\u3001\u73fe\u5728\u306f\u60a3\u8005\u30fb\u5bb6\u65cf\u3078\u306e\u914d\u616e\u304b\u3089\u300c\u88c2\u624b\u30fb\u88c2\u8db3\uff08\u308c\u3063\u3057\u3085\u30fb\u308c\u3063\u305d\u304f\uff09\u300d\u3068\u547c\u3076\u306e\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SHFM1 with sensorineural hearing loss\uff08\u611f\u97f3\u6027\u96e3\u8074\u3092\u4f34\u3046SHFM1\uff09<\/strong><\/li>\n\n\n\n<li><strong>7q21.3\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\uff087q21.3 microdeletion syndrome\uff09<\/strong><\/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>7\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0921.3\u9818\u57df<\/strong><\/p>\n\n\n\n<p>SHFM1\u306f\u30017\u756a\u67d3\u8272\u4f53\u9577\u8155\uff087q21.3\uff09\u306b\u4f4d\u7f6e\u3059\u308b\u8907\u6570\u306e\u907a\u4f1d\u5b50\u3068\u305d\u306e\u5236\u5fa1\u9818\u57df\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u8cac\u4efb\u907a\u4f1d\u5b50\u306e\u5f79\u5272\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u56db\u80a2\u304a\u3088\u3073\u9854\u9762\u3001\u8033\u306e\u5f62\u6210\u306b\u4e0d\u53ef\u6b20\u306a DLX5\u907a\u4f1d\u5b50 \u304a\u3088\u3073 DLX6\u907a\u4f1d\u5b50 \u304c\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>DLX5 \/ DLX6:<\/strong> \u30db\u30e1\u30aa\u30dc\u30c3\u30af\u30b9\u907a\u4f1d\u5b50\u30d5\u30a1\u30df\u30ea\u30fc\u306b\u5c5e\u3057\u3001\u80ce\u5150\u671f\u306e\u56db\u80a2\u306e\u5148\u7aef\u90e8\uff08AER\uff1a\u9802\u7aef\u5916\u80da\u8449\u80a5\u539a\uff09\u306b\u304a\u3044\u3066\u3001\u9aa8\u683c\u306e\u30d1\u30bf\u30fc\u30f3\u5f62\u6210\u3092\u6307\u793a\u3059\u308b\u53f8\u4ee4\u5854\u306e\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5236\u5fa1\u9818\u57df\uff08\u30a8\u30f3\u30cf\u30f3\u30b5\u30fc\uff09:<\/strong> DLX5\/DLX6\u305d\u306e\u3082\u306e\u306e\u5909\u7570\u3060\u3051\u3067\u306a\u304f\u3001\u3053\u308c\u3089\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u8abf\u7bc0\u3059\u308b\u5468\u8fba\u306e\u300c\u30a8\u30f3\u30cf\u30f3\u30b5\u30fc\u9818\u57df\u300d\u306e<strong>\u5fae\u5c0f<\/strong>\u6b20\u5931\u3084\u518d\u69cb\u6210\uff08\u8ee2\u5ea7\u30fb\u9006\u4f4d\uff09\u306b\u3088\u3063\u3066\u3082\u3001\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u304c\u6b63\u3057\u304f\u5165\u3089\u306a\u304f\u306a\u308a\u3001\u767a\u75c7\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u75c7\u5019\u7fa4\u6027SHFM1:<\/strong> \u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u3044\u5834\u5408\u3001\u96a3\u63a5\u3059\u308b <em>DSS1<\/em> \u907a\u4f1d\u5b50\u306a\u3069\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u3001\u96e3\u8074\u3084\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u300c\u75c7\u5019\u7fa4\u6027\u300d\u306e\u81e8\u5e8a\u50cf\u3092\u5448\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u51fa\u751f\u5150 18,000\u4eba \u301c 25,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5168\u4f53\u50cf:<\/strong> \u88c2\u624b\u30fb\u88c2\u8db3\u75c7\u5019\u7fa4\uff08SHFM\uff09\u5168\u4f53\u306e\u4e2d\u3067\u3001SHFM1\u306f\u4e3b\u8981\u306a\u539f\u56e0\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u7684\u7570\u8cea\u6027:<\/strong> SHFM\u306b\u306f\u73fe\u57281\u578b\u304b\u30896\u578b\u307e\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u3055\u308c\u3066\u3044\u308b\u3082\u306e\u306e\u4e2d\u3067SHFM1\uff087q21.3\uff09\u306f\u81e8\u5e8a\u7684\u306b\u91cd\u8981\u306a\u4f4d\u7f6e\u3092\u5360\u3081\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee:<\/strong> \u7537\u5973\u5dee\u306f\u306a\u304f\u3001\u3069\u3061\u3089\u306e\u6027\u5225\u3067\u3082\u540c\u7b49\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>SHFM1\u306e\u75c7\u72b6\u306f\u975e\u5e38\u306b\u591a\u69d8\u3067\u3042\u308a\u3001\u540c\u3058\u5bb6\u65cf\u5185\uff08\u540c\u3058\u907a\u4f1d\u5b50\u5909\u7570\u3092\u6301\u3064\u8005\u540c\u58eb\uff09\u3067\u3042\u3063\u3066\u3082\u3001\u75c7\u72b6\u306e\u51fa\u65b9\u306b\u5927\u304d\u306a\u5dee\uff08\u8868\u73fe\u5ea6\u306e\u5dee\uff09\u304c\u898b\u3089\u308c\u308b\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u624b\u8db3\u306e\u5f62\u614b\u7570\u5e38\uff08\u4e3b\u8981\u75c7\u72b6\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e2d\u5fc3\u6027\u6b20\u640d:<\/strong> \u624b\u307e\u305f\u306f\u8db3\u306e\u4e2d\u592e\u90e8\u5206\uff08\u4e2d\u6307\u30fb\u4e2d\u8dbe\uff09\u304c\u6b20\u640d\u3057\u3001V\u5b57\u578b\u307e\u305f\u306fU\u5b57\u578b\u306e\u6df1\u3044\u88c2\u3051\u76ee\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5408\u6307\u75c7\u30fb\u5408\u8dbe\u75c7:<\/strong> \u6b8b\u3063\u305f\u6307\u540c\u58eb\u304c\u7652\u5408\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u628a\u6301\uff08\u7269\u3092\u63b4\u3080\uff09\u52d5\u4f5c\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6307\u306e\u6b20\u640d\u30fb\u4f4e\u5f62\u6210:<\/strong> \u6bcd\u6307\uff08\u89aa\u6307\uff09\u304c\u6b8b\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308c\u3070\u3001\u6307\u306e\u6570\u304c2\u672c\u30843\u672c\u306b\u6e1b\u5c11\u3057\u3066\u3044\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u975e\u5bfe\u79f0\u6027:<\/strong> \u5de6\u53f3\u306e\u624b\u8db3\u3067\u75c7\u72b6\u304c\u7570\u306a\u308b\u3053\u3068\u3084\u3001\u7247\u624b\u3060\u3051\u306b\u75c7\u72b6\u304c\u51fa\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u975e\u56db\u80a2\u75c7\u72b6\uff08\u968f\u4f34\u75c7\u72b6\uff09<\/strong><\/p>\n\n\n\n<p>SHFM1\u3067\u306f\u30017q21.3\u9818\u57df\u306e\u6b20\u5931\u7bc4\u56f2\u3084\u5909\u7570\u306e\u7a2e\u985e\u306b\u3088\u308a\u3001\u624b\u8db3\u4ee5\u5916\u306e\u90e8\u4f4d\u306b\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u611f\u97f3\u6027\u96e3\u8074\uff08\u7d0430%\uff09:<\/strong> DLX\u907a\u4f1d\u5b50\u304c\u5185\u8033\u306e\u5f62\u6210\u306b\u3082\u95a2\u4e0e\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u96e3\u8074\u3092\u5408\u4f75\u3059\u308b\u983b\u5ea6\u304c\u6bd4\u8f03\u7684\u9ad8\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9854\u9762\u306e\u7570\u5e38:<\/strong> \u7a00\u306b\u53e3\u5507\u88c2\u3001\u53e3\u84cb\u88c2\u3001\u3042\u308b\u3044\u306f\u4e0b\u984e\u306e\u5f62\u6210\u4e0d\u5168\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3:<\/strong> \u67d3\u8272\u4f53\u306e<strong>\u5fae\u5c0f<\/strong>\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u304f\u3001\u8133\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u96a3\u63a5\u907a\u4f1d\u5b50\u3092\u5dfb\u304d\u8fbc\u3093\u3067\u3044\u308b\u5834\u5408\u306b\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u6a5f\u80fd\u7684\u5074\u9762<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u628a\u6301\u52d5\u4f5c:<\/strong> \u624b\u306e\u88c2\u3051\u76ee\u3092\u5229\u7528\u3057\u3066\u30d4\u30f3\u30bb\u30c3\u30c8\u306e\u3088\u3046\u306b\u7269\u3092\u6458\u3080\u52d5\u4f5c\u306f\u53ef\u80fd\u306a\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u7d30\u304b\u306a\u4f5c\u696d\u306b\u306f\u5236\u9650\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b69\u884c:<\/strong> \u8db3\u306e\u5909\u5f62\u304c\u3042\u308b\u5834\u5408\u3001\u8377\u91cd\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u4e0d\u5b89\u5b9a\u306b\u306a\u308a\u3001\u6b69\u884c\u306e\u9045\u308c\u3084\u75db\u307f\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>7q21.3\u9818\u57df\u306eDLX5\/DLX6\u907a\u4f1d\u5b50\u306e\u4e0d\u6d3b\u5316\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u5f62\u5f0f\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5f62\u5f0f:<\/strong><strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d<\/strong> \u3067\u3059\u3002\n<ul class=\"wp-block-list\">\n<li>\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u300150%\u306e\u78ba\u7387\u3067\u304a\u5b50\u69d8\u306b\u907a\u4f1d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6d78\u900f\u5ea6\u306e\u4f4e\u3055:<\/strong> \u5909\u7570\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u898b\u305f\u76ee\u306b\u306f\u75c7\u72b6\u304c\u5168\u304f\u73fe\u308c\u306a\u3044\uff08\u975e\u6d78\u900f\uff09\u30b1\u30fc\u30b9\u3084\u3001\u722a\u306e\u5f62\u304c\u5c11\u3057\u9055\u3046\u3060\u3051\u306e\u8efd\u5fae\u306a\u30b1\u30fc\u30b9\u304c\u3042\u308b\u305f\u3081\u3001\u5bb6\u7cfb\u8abf\u67fb\u3067\u306f\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5206\u5b50\u30e1\u30ab\u30cb\u30ba\u30e0:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5fae\u5c0f\u6b20\u5931:<\/strong> 7q21.3\u9818\u57df\u306e\u6b20\u640d\u306b\u3088\u308a\u3001<em>DLX5\/6<\/em>\u907a\u4f1d\u5b50\u3001\u307e\u305f\u306f\u305d\u306e\u5236\u5fa1\u9818\u57df\u304c\u5931\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u67d3\u8272\u4f53\u69cb\u9020\u7570\u5e38:<\/strong> \u8ee2\u5ea7\u3084\u9006\u4f4d\u306b\u3088\u3063\u3066\u3001\u907a\u4f1d\u5b50\u3068\u305d\u306e\u30b9\u30a4\u30c3\u30c1\uff08\u30a8\u30f3\u30cf\u30f3\u30b5\u30fc\uff09\u306e\u8ddd\u96e2\u304c\u96e2\u308c\u3066\u3057\u307e\u3044\u3001\u907a\u4f1d\u5b50\u304c\u6a5f\u80fd\u3057\u306a\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u65b0\u751f\u7a81\u7136\u5909\u7570:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e21\u89aa\u304c\u6b63\u5e38\u3067\u3001\u304a\u5b50\u69d8\u306b\u521d\u3081\u3066\u5909\u7570\u304c\u751f\u3058\u308b\u30b1\u30fc\u30b9\u3082\u591a\u304f\u8a8d\u3081\u3089\u308c\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>\u80ce\u5150\u671f\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3001\u3042\u308b\u3044\u306f\u51fa\u751f\u5f8c\u306e\u8eab\u4f53\u8a3a\u5bdf\u304b\u3089\u7591\u308f\u308c\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u8a3a\u65ad:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7279\u5fb4\u7684\u306a\u624b\u8db3\u306eX\u7dda\u691c\u67fb\u3092\u884c\u3044\u3001\u9aa8\u683c\u306e\u6b20\u640d\u30d1\u30bf\u30fc\u30f3\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\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><strong>\u78ba\u5b9a\u8a3a\u65ad\u306e\u7b2c\u4e00\u9078\u629e<\/strong>\u3067\u3059\u30027q21.3\u9818\u57df\u306e<strong>\u5fae\u5c0f<\/strong>\u6b20\u5931\u3092\u7cbe\u5bc6\u306b\u691c\u51fa\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>FISH\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u306e\u8ee2\u5ea7\u3084\u518d\u69cb\u6210\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306b\u3001\u7279\u5b9a\u306e\u9818\u57df\u3092\u8996\u899a\u7684\u306b\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u7528\u3044\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\uff08NGS\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u304c\u898b\u3064\u304b\u3089\u306a\u3044\u5834\u5408\u3001<em>DLX5<\/em>\u3084<em>DLX6<\/em>\u306e\u907a\u4f1d\u5b50\u5185\u5909\u7570\u3092\u63a2\u3059\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8074\u529b\u691c\u67fb\uff08ABR\u306a\u3069\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u78ba\u5b9a\u5f8c\u3001\u96e3\u8074\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u5168\u4f8b\u3067\u884c\u3046\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\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>\u6839\u672c\u7684\u306a\u300c\u907a\u4f1d\u5b50\u306e\u4fee\u5fa9\u300d\u306f\u4e0d\u53ef\u80fd\u3067\u3059\u304c\u3001\u6574\u5f62\u5916\u79d1\u7684\u306a\u624b\u8853\u3068\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u306b\u3088\u308a\u3001\u6a5f\u80fd\u3068\u5916\u898b\u306e\u4e21\u9762\u3092\u6539\u5584\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5916\u79d1\u7684\u624b\u8853\uff08\u6574\u5f62\u5916\u79d1\u30fb\u5f62\u6210\u5916\u79d1\uff09<\/strong><\/p>\n\n\n\n<p>\u624b\u8853\u306e\u76ee\u7684\u306f\u300c\u6a5f\u80fd\u306e\u6700\u5927\u5316\u300d\u3068\u300c\u5916\u898b\u306e\u6574\u5bb9\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5408\u6307\u5206\u96e2\u8853:<\/strong> \u6307\u304c\u3064\u306a\u304c\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u6307\u3092\u96e2\u3057\u3066\u72ec\u7acb\u3057\u305f\u52d5\u304d\u3092\u53ef\u80fd\u306b\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u88c2\u624b\u9589\u9396\u8853:<\/strong> \u624b\u306e\u4e2d\u5fc3\u306b\u3042\u308b\u88c2\u3051\u76ee\u3092\u9589\u3058\u3001\u624b\u306e\u5e45\u3092\u6574\u3048\u3066\u63b4\u307f\u3084\u3059\u304f\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6bcd\u6307\u5316\u624b\u8853:<\/strong> \u89aa\u6307\u304c\u6b20\u640d\u3057\u3066\u3044\u308b\u5834\u5408\u3001\u4eba\u5dee\u3057\u6307\u306a\u3069\u3092\u89aa\u6307\u306e\u4f4d\u7f6e\u306b\u79fb\u8a2d\u3057\u3001\u3064\u307e\u3080\u6a5f\u80fd\u3092\u7372\u5f97\u3055\u305b\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6642\u671f:<\/strong> \u4e00\u822c\u7684\u306b\u3001\u624b\u306e\u6210\u9577\u3068\u6a5f\u80fd\u767a\u9054\u306b\u5408\u308f\u305b\u3066\u30011\u6b73\u304b\u3089\u5c31\u5b66\u524d\u307e\u3067\u306b\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u8074\u899a\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u88dc\u8074\u5668:<\/strong> \u96e3\u8074\u304c\u8a8d\u3081\u3089\u308c\u308b\u5834\u5408\u3001\u8a00\u8a9e\u767a\u9054\u3092\u4fc3\u3059\u305f\u3081\u306b\u65e9\u671f\u304b\u3089\u88dc\u8074\u5668\u306e\u88c5\u7528\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4eba\u5de5\u5185\u8033:<\/strong> \u96e3\u8074\u304c\u91cd\u5ea6\u306e\u5834\u5408\u3001\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u624b\u8853\u5f8c\u306e\u624b\u306e\u4f7f\u3044\u65b9\u3092\u8a13\u7df4\u3057\u3001\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\uff08\u98df\u4e8b\u3001\u66f8\u5b57\u306a\u3069\uff09\u306e\u81ea\u7acb\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong> \u8db3\u306e\u5909\u5f62\u304c\u3042\u308b\u5834\u5408\u3001\u9069\u5207\u306a\u6b69\u884c\u8a13\u7df4\u3084\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u88c5\u5177\uff08\u30a4\u30f3\u30bd\u30fc\u30eb\uff09\u306e\u4f5c\u6210\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5fc3\u7406\u7684\u30fb\u793e\u4f1a\u7684\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5916\u898b\u4e0a\u306e\u7279\u5fb4\u304c\u3042\u308b\u305f\u3081\u3001\u601d\u6625\u671f\u4ee5\u964d\u306e\u5fc3\u7406\u7684\u30b1\u30a2\u3084\u3001\u5b66\u6821\u751f\u6d3b\u306b\u304a\u3051\u308b\u5468\u56f2\u306e\u7406\u89e3\u4fc3\u9032\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8eab\u4f53\u6a5f\u80fd:<\/strong> \u9069\u5207\u306a\u624b\u8853\u3068\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u306b\u3088\u308a\u3001\u591a\u304f\u306e\u60a3\u8005\u306f\u65e5\u5e38\u751f\u6d3b\u3092\u81ea\u7acb\u3057\u3066\u9001\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002\u30b9\u30dd\u30fc\u30c4\u3084\u697d\u5668\u6f14\u594f\u3092\u697d\u3057\u3093\u3067\u3044\u308b\u65b9\u3082\u591a\u304f\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u4e88\u5f8c:<\/strong> \u75c7\u5019\u7fa4\u6027\u3067\u306a\u3044\uff08\u624b\u8db3\u306e\u75c7\u72b6\u306e\u307f\u306e\uff09\u5834\u5408\u306f\u3001\u77e5\u80fd\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u6559\u80b2\u3084\u5c31\u696d\u306b\u304a\u3044\u3066\u5236\u9650\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u6b21\u4e16\u4ee3\u3078\u306e\u5f71\u97ff:<\/strong> \u9855\u6027\u907a\u4f1d\u3067\u3042\u308b\u305f\u3081\u3001\u5c06\u6765\u5b50\u4f9b\u3092\u6301\u3063\u305f\u969b\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u91cd\u8981\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>Split-hand\/foot malformation 1 (SHFM1) \u306f\u30017\u756a\u67d3\u8272\u4f53\u306b\u3042\u308b\u300c\u624b\u8db3\u306e\u5f62\u3092\u4f5c\u308b\u30b9\u30a4\u30c3\u30c1\u300d\u304c\u3001\u80ce\u5150\u671f\u306b\u3046\u307e\u304f\u5165\u3089\u306a\u3044\u3053\u3068\u3067\u8d77\u3053\u308b\u5148\u5929\u7684\u306a\u4f53\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u624b\u306e\u4e2d\u5fc3\u90e8\u304c\u5206\u304b\u308c\u3066\u3044\u308b\u72ec\u7279\u306a\u5f62\u3092\u3057\u3066\u304a\u308a\u3001\u9a5a\u304b\u308c\u308b\u3053\u3068\u3082\u3042\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u3053\u306e\u5f62\u306f\u300c\u7269\u3092\u63b4\u3080\u300d\u3068\u3044\u3046\u6a5f\u80fd\u306b\u304a\u3044\u3066\u306f\u3001\u610f\u5916\u306a\u307b\u3069\u5668\u7528\u306a\u52d5\u304d\u3092\u53ef\u80fd\u306b\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u306e\u533b\u7642\u3067\u306f\u30011\u6b73\u9803\u304b\u3089\u6bb5\u968e\u7684\u306b\u624b\u8853\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u6307\u3092\u5897\u3084\u3057\u305f\u308a\u3001\u9699\u9593\u3092\u9589\u3058\u305f\u308a\u3057\u3066\u3001\u3088\u308a\u4f7f\u3044\u3084\u3059\u304f\u3001\u6574\u3063\u305f\u5f62\u306b\u8fd1\u3065\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5927\u5207\u306a\u306e\u306f\u3001\u304a\u5b50\u69d8\u304c\u81ea\u5206\u306e\u624b\u3092\u300c\u9053\u5177\u300d\u3068\u3057\u3066\u611b\u7740\u3092\u6301\u3063\u3066\u4f7f\u3044\u3053\u306a\u305b\u308b\u3088\u3046\u3001\u65e9\u671f\u304b\u3089\u6574\u5f62\u5916\u79d1\u3084\u30ea\u30cf\u30d3\u30ea\u306e\u5c02\u9580\u5bb6\u3068\u3064\u306a\u304c\u308b\u3053\u3068\u3067\u3059\u3002\u307e\u305f\u3001\u3053\u306e\u75c5\u6c17\u306f\u96e3\u8074\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u8033\u306e\u30c1\u30a7\u30c3\u30af\u3082\u5fd8\u308c\u305a\u306b\u884c\u3044\u307e\u3057\u3087\u3046\u3002\u304a\u5b50\u69d8\u306f\u3001\u305d\u306e\u624b\u3067\u81ea\u5206\u3089\u3057\u3044\u672a\u6765\u3092\u529b\u5f37\u304f\u63b4\u307f\u53d6\u3063\u3066\u3044\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Scherer, S. W., et al.<\/strong> (1994). <em>Physical mapping of the split hand\/split foot locus on chromosome 7 and demonstration of a Schinzel-Giedion syndrome\u2013like phenotype in a patient with a de novo t(6;7)(q15;q21).<\/em> Human Molecular Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08SHFM1\u9818\u57df\u306e\u7279\u5b9a\u3068DLX\u907a\u4f1d\u5b50\u306e\u95a2\u4e0e\u3092\u89e3\u660e\u3057\u305f\u521d\u671f\u306e\u91cd\u8981\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Schanze, D., et al.<\/strong> (2012). <em>Microdeletions in 7q21.3 as a cause of split hand\/split foot malformation type 1.<\/em> American Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff087q21.3\u306e<strong>\u5fae\u5c0f<\/strong>\u6b20\u5931\u3068SHFM1\u306e\u76f8\u95a2\u3092\u73fe\u4ee3\u7684\u306a\u89e3\u6790\u624b\u6cd5\u3067\u793a\u3057\u305f\u6587\u732e\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Wieland, I., et al.<\/strong> (2004). <em>Refinement of the Split-Hand\/Split-Foot Malformation locus SHFM1 and mutation analysis of candidate genes (DLX5, DLX6, and DSS1).<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08DLX5\/6\u907a\u4f1d\u5b50\u3068DSS1\u907a\u4f1d\u5b50\u306e\u69cb\u9020\u7684\u5f79\u5272\u3092\u89e3\u6790\u3057\u305f\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Split-Hand\/Foot Malformation Landscape<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08SHFM\u5168\u822c\u306e\u8a3a\u65ad\u3001\u7ba1\u7406\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u7db2\u7f85\u3057\u305f\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>7q21 deletions (including SHFM1)<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u67d3\u8272\u4f53\u7570\u5e38\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u3001\u3054\u5bb6\u65cf\u5411\u3051\u306e\u308f\u304b\u308a\u3084\u3059\u3044\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Orphanet<\/strong>: <em>Split hand-foot malformation 1 (ORPHA:79452)<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u75be\u60a3\u306e\u56fd\u969b\u7684\u306a\u30dd\u30fc\u30bf\u30eb\u30b5\u30a4\u30c8\u306b\u3088\u308b\u75c5\u614b\u6982\u8981\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-17462","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\/17462","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\/17462\/revisions"}],"predecessor-version":[{"id":17465,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17462\/revisions\/17465"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17462"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}