{"id":17466,"date":"2026-01-22T05:37:00","date_gmt":"2026-01-22T05:37:00","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17466"},"modified":"2026-01-22T05:37:00","modified_gmt":"2026-01-22T05:37:00","slug":"split-hand-foot-malformation-3-shfm3","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/split-hand-foot-malformation-3-shfm3\/","title":{"rendered":"Split-hand\/foot malformation 3 (SHFM3)"},"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>SHFM3<\/strong><\/li>\n\n\n\n<li><strong>10q24\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4\uff0810q24 microduplication syndrome\uff09<\/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>\u5916\u6307\u75c7\uff08Ectrodactyly\uff09<\/strong><\/li>\n\n\n\n<li><strong>10q24.31-q24.32\u91cd\u8907\u75c7\u5019\u7fa4<\/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>10\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0924.31-q24.32\u9818\u57df\u306e\u5fae\u5c0f\u91cd\u8907<\/strong><\/p>\n\n\n\n<p>SHFM3\u306f\u300110\u756a\u67d3\u8272\u4f53\u4e0a\u306e\u7279\u5b9a\u306e\u9818\u57df\u304c\u300c\u901a\u5e38\u3088\u308a\u591a\u304f\u5b58\u5728\u3059\u308b\uff08\u91cd\u8907\uff09\u300d\u3053\u3068\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3001\u975e\u5e38\u306b\u30e6\u30cb\u30fc\u30af\u306a\u907a\u4f1d\u7684\u80cc\u666f\u3092\u6301\u3064\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u767a\u75c7\u30e1\u30ab\u30cb\u30ba\u30e0\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8cac\u4efb\u9818\u57df:<\/strong> \u7d04500kb\uff08\u30ad\u30ed\u30d9\u30fc\u30b9\uff09\u7a0b\u5ea6\u306e<strong>\u5fae\u5c0f<\/strong>\u306a\u91cd\u8907\u9818\u57df\u3002<\/li>\n\n\n\n<li><strong>\u4e3b\u8981\u306a\u95a2\u4e0e\u907a\u4f1d\u5b50:<\/strong> <strong>BTRC\u907a\u4f1d\u5b50<\/strong>\u3001<strong>POLL\u907a\u4f1d\u5b50<\/strong>\u3001<strong>FBXW4\u907a\u4f1d\u5b50<\/strong>\u3001\u304a\u3088\u3073<strong>LBX1\u907a\u4f1d\u5b50<\/strong>\u304c\u542b\u307e\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u75c5\u614b\u30e1\u30ab\u30cb\u30ba\u30e0\uff08\u30b2\u30ce\u30e0\u518d\u69cb\u6210\uff09:<\/strong> \u3053\u306e\u9818\u57df\u304c\u91cd\u8907\u3059\u308b\u3053\u3068\u3067\u3001\u56db\u80a2\u306e\u5f62\u6210\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u300cDactylin\uff08\u30c0\u30af\u30c1\u30ea\u30f3\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3059\u308b <em>FBXW4<\/em> \u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u304c\u7834\u58ca\u3055\u308c\u308b\u3001\u3042\u308b\u3044\u306f\u96a3\u63a5\u3059\u308b\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u8abf\u7bc0\u304c\u4e71\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9802\u7aef\u5916\u80da\u8449\u80a5\u539a\uff08AER\uff09\u306e\u7570\u5e38:<\/strong> \u80ce\u5150\u671f\u306e\u624b\u8db3\u306e\u82bd\uff08\u80a2\u82bd\uff09\u306b\u304a\u3044\u3066\u3001\u5148\u7aef\u90e8\u5206\u306e\u6210\u9577\u3092\u4fc3\u3059AER\u3068\u3044\u3046\u7d44\u7e54\u304c\u6b63\u3057\u304f\u7dad\u6301\u3055\u308c\u305a\u3001\u4e2d\u592e\u90e8\u5206\uff08\u4e2d\u6307\u30fb\u4e2d\u8dbe\u306b\u76f8\u5f53\u3059\u308b\u90e8\u5206\uff09\u306e\u5f62\u6210\u304c\u9014\u4e2d\u3067\u505c\u6b62\u3057\u3066\u3057\u307e\u3046\u3053\u3068\u3067\u3001\u88c2\u624b\u30fb\u88c2\u8db3\u306e\u5f62\u614b\u304c\u751f\u3058\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 90,000\u4eba \u301c 150,000\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\u81ea\u4f53\u304c\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u304c\u3001\u305d\u306e\u4e2d\u3067SHFM3\u306f\u6bd4\u8f03\u7684\u3088\u304f\u898b\u3089\u308c\u308b\u30b5\u30d6\u30bf\u30a4\u30d7\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u7684\u7570\u8cea\u6027:<\/strong> SHFM\u306b\u306f\u8907\u6570\u306e\u578b\u304c\u3042\u308a\u307e\u3059\u304c\u300110\u756a\u67d3\u8272\u4f53\u306e\u7570\u5e38\u3092\u539f\u56e0\u3068\u3059\u308b3\u578b\u306f\u3001\u7279\u306b\u300c\u5b64\u767a\u4f8b\uff08\u5bb6\u65cf\u306b\u8ab0\u3082\u3044\u306a\u3044\u30b1\u30fc\u30b9\uff09\u300d\u3068\u300c\u5bb6\u7cfb\u5185\u767a\u75c7\u4f8b\u300d\u306e\u4e21\u65b9\u304c\u660e\u78ba\u306b\u5831\u544a\u3055\u308c\u3066\u3044\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\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>SHFM3\u306e\u75c7\u72b6\u306f\u3001\u4e3b\u306b\u624b\u8db3\u306e\u5f62\u614b\u306b\u73fe\u308c\u307e\u3059\u3002\u77e5\u80fd\u3084\u5185\u81d3\u3078\u306e\u5f71\u97ff\u304c\u5c11\u306a\u3044\u300c\u975e\u75c7\u5019\u7fa4\u6027\u300d\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u304c\u3001\u305d\u306e\u5f62\u72b6\u306f\u975e\u5e38\u306b\u591a\u69d8\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\uff08Cleft hand\/foot\uff09:<\/strong> \u4e2d\u6307\uff08\u7b2c3\u6307\uff09\u3084\u4e2d\u8dbe\u304c\u6b20\u640d\u3057\u3001\u624b\u8db3\u306e\u4e2d\u592e\u306b\u6df1\u3044V\u5b57\u578b\u307e\u305f\u306fU\u5b57\u578b\u306e\u88c2\u3051\u76ee\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5408\u6307\u75c7\u30fb\u5408\u8dbe\u75c7:<\/strong> \u6b20\u640d\u3057\u3066\u3044\u306a\u3044\u6307\u540c\u58eb\u304c\u7652\u5408\uff08\u304f\u3063\u3064\u3044\u3066\u3044\u308b\uff09\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u7279\u306b\u89aa\u6307\uff08\u7b2c1\u6307\uff09\u3068\u4eba\u5dee\u3057\u6307\uff08\u7b2c2\u6307\uff09\u3001\u3042\u308b\u3044\u306f\u85ac\u6307\u3068\u5c0f\u6307\u304c\u5408\u308f\u3055\u3063\u3066\u3044\u308b\u30b1\u30fc\u30b9\u304c\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6307\u306e\u4f4e\u5f62\u6210\u30fb\u7121\u5f62\u6210:<\/strong> \u5b58\u5728\u3059\u308b\u6307\u306e\u6570\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u30012\u672c\u301c4\u672c\u3068\u6e1b\u5c11\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u975e\u5bfe\u79f0\u6027:<\/strong> \u5de6\u53f3\u306e\u624b\u8db3\u3059\u3079\u3066\u306b\u75c7\u72b6\u304c\u51fa\u308b\u300c\u56db\u80a2\u7f79\u60a3\u300d\u3082\u3042\u308c\u3070\u3001\u7247\u65b9\u306e\u624b\u3060\u3051\u306b\u73fe\u308c\u308b\u300c\u5358\u80a2\u7f79\u60a3\u300d\u3082\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u624b\u3088\u308a\u3082\u8db3\u306e\u65b9\u304c\u75c7\u72b6\u304c\u5f37\u304f\u51fa\u3084\u3059\u3044\u50be\u5411\u3082\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6a5f\u80fd\u7684\u306a\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30d4\u30f3\u30bb\u30c3\u30c8\u628a\u63e1:<\/strong> \u6307\u304c2\u672c\u3057\u304b\u306a\u3044\u5834\u5408\u3067\u3082\u3001\u305d\u308c\u3089\u3092\u30d4\u30f3\u30bb\u30c3\u30c8\u306e\u3088\u3046\u306b\u5668\u7528\u306b\u4f7f\u3063\u3066\u5c0f\u3055\u306a\u7269\u3092\u63b4\u3080\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b69\u884c\u3078\u306e\u5f71\u97ff:<\/strong> \u8db3\u306e\u88c2\u3051\u76ee\u304c\u6df1\u3044\u5834\u5408\u3001\u9774\u306e\u30d5\u30a3\u30c3\u30c6\u30a3\u30f3\u30b0\u304c\u96e3\u3057\u304b\u3063\u305f\u308a\u3001\u8377\u91cd\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3066\u6b69\u884c\u304c\u4e0d\u5b89\u5b9a\u306b\u306a\u3063\u305f\u308a\u3001\u6210\u9577\u306b\u4f34\u3044\u8db3\u5e95\u306b\u75db\u307f\u304c\u751f\u3058\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u975e\u56db\u80a2\u75c7\u72b6\uff08\u968f\u4f34\u75c7\u72b6\uff09<\/strong><\/p>\n\n\n\n<p>SHFM3\u306f\u901a\u5e38\u3001\u77e5\u80fd\u3084\u9854\u8c8c\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u305b\u3093\u304c\u3001\u7a00\u306b\u5e83\u7bc4\u56f2\u306a\u67d3\u8272\u4f53\u91cd\u8907\u304c\u3042\u308b\u5834\u5408\u3001\u4ee5\u4e0b\u306e\u75c7\u72b6\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8efd\u5ea6\u306e\u767a\u9054\u9045\u6ede:<\/strong> \u91cd\u8907\u7bc4\u56f2\u304c\u975e\u5e38\u306b\u5e83\u3044\u7279\u6b8a\u306a\u30b1\u30fc\u30b9\u3067\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u722a\u306e\u7570\u5e38:<\/strong> \u6307\u306e\u5f62\u6210\u4e0d\u5168\u306b\u4f34\u3044\u3001\u722a\u304c\u5c0f\u3055\u304b\u3063\u305f\u308a\u6b20\u640d\u3057\u3066\u3044\u305f\u308a\u3059\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>10q24.3\u9818\u57df\u306e\u5fae\u5c0f\u91cd\u8907\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>\u89aa\u304c\u3053\u306e\u67d3\u8272\u4f53\u91cd\u8907\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>\u4e0d\u5b8c\u5168\u6d78\u900f\u3068\u8868\u73fe\u578b\u306e\u591a\u69d8\u6027:<\/strong> \u5909\u7570\uff08\u91cd\u8907\uff09\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u75c7\u72b6\u304c\u51fa\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u6975\u3081\u3066\u8efd\u3044\uff08\u6307\u304c\u5c11\u3057\u7d30\u3044\u3060\u3051\u306a\u3069\uff09\u5834\u5408\u304c\u3042\u308a\u3001\u898b\u305f\u76ee\u3067\u306f\u907a\u4f1d\u3057\u3066\u3044\u308b\u304b\u308f\u304b\u3089\u306a\u3044\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\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\uff08\u91cd\u8907\u306a\u3057\uff09\u3067\u3001\u304a\u5b50\u69d8\u306e\u53d7\u7cbe\u6642\u306b\u5076\u7136\u306b\u91cd\u8907\u304c\u751f\u3058\u308b\u30b1\u30fc\u30b9\u3082\u591a\u304f\u3001\u5bb6\u65cf\u6b74\u304c\u306a\u3044\u304b\u3089\u3068\u3044\u3063\u3066\u907a\u4f1d\u5b50\u75be\u60a3\u304c\u5426\u5b9a\u3055\u308c\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\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>\u591a\u304f\u306e\u5834\u5408\u3001\u51fa\u751f\u6642\u306e\u8eab\u4f53\u7684\u7279\u5fb4\u304b\u3089\u7591\u308f\u308c\u3001\u9ad8\u5ea6\u306a\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u8a3a\u65ad\u3068\u30ec\u30f3\u30c8\u30b2\u30f3\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u8db3\u306e\u9aa8\u683c\u69cb\u9020\u3092X\u7dda\u3067\u64ae\u5f71\u3057\u3001\u4e2d\u6307\u30fb\u4e2d\u8dbe\u306e\u9aa8\u306e\u6b20\u640d\u3084\u7652\u5408\u306e\u30d1\u30bf\u30fc\u30f3\u3092\u78ba\u8a8d\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\u306b\u6700\u3082\u6709\u52b9\u306a\u691c\u67fb<\/strong>\u3067\u3059\u3002\u901a\u5e38\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u306f\u898b\u9003\u3055\u308c\u308b\u3088\u3046\u306a\u300110q24\u9818\u57df\u306e<strong>\u5fae\u5c0f<\/strong>\u306a\u91cd\u8907\u3092\u78ba\u5b9f\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>\u7279\u5fb4\u7684\u306a10q24\u9818\u57df\u306b\u8272\u3092\u3064\u3051\u3001\u91cd\u8907\u306e\u6709\u7121\u3092\u9855\u5fae\u93e1\u4e0b\u3067\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u80ce\u5150\u8a3a\u65ad:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5bb6\u65cf\u6b74\u304c\u3042\u308b\u5834\u5408\u3084\u3001\u598a\u5a66\u5065\u8a3a\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u624b\u8db3\u306e\u5f62\u614b\u7570\u5e38\u304c\u7591\u308f\u308c\u305f\u969b\u3001\u7f8a\u6c34\u691c\u67fb\u3084\u7d68\u6bdb\u691c\u67fb\u3092\u901a\u3058\u3066\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u89e3\u6790\u3092\u884c\u3046\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u304c\u53ef\u80fd\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>\u6839\u672c\u7684\u306a\u300c\u67d3\u8272\u4f53\u306e\u91cd\u8907\u3092\u6d88\u3059\u300d\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6cbb\u7642\u306e\u67f1\u306f\u3001\u6a5f\u80fd\u306e\u6539\u5584\u3068\u6574\u5bb9\u3092\u76ee\u7684\u3068\u3057\u305f**\u300c\u6574\u5f62\u5916\u79d1\u7684\u4ecb\u5165\u300d<strong>\u3068\u3001\u65e5\u5e38\u751f\u6d3b\u3092\u652f\u3048\u308b<\/strong>\u300c\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u300d**\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u624b\u306e\u5916\u79d1\u624b\u8853\uff08\u6574\u5f62\u5916\u79d1\u30fb\u5f62\u6210\u5916\u79d1\uff09<\/strong><\/p>\n\n\n\n<p>\u624b\u8853\u306f\u3001\u304a\u5b50\u69d8\u304c\u81ea\u5206\u306e\u624b\u3092\u300c\u9053\u5177\u300d\u3068\u3057\u3066\u52b9\u7387\u3088\u304f\u4f7f\u3048\u308b\u3088\u3046\u306b\u306a\u308b\u3053\u3068\u3092\u76ee\u7684\u3068\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5408\u6307\u5206\u96e2\u8853:<\/strong> \u304f\u3063\u3064\u3044\u3066\u3044\u308b\u6307\u3092\u5207\u308a\u96e2\u3057\u3001\u4e00\u672c\u305a\u3064\u306e\u52d5\u304d\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u300c\u6458\u3080\u300d\u6a5f\u80fd\u304c\u5411\u4e0a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u88c2\u624b\u9589\u9396\u8853:<\/strong> \u4e2d\u592e\u306e\u6df1\u3044\u88c2\u3051\u76ee\u3092\u9589\u3058\u3001\u624b\u306e\u5e45\u3092\u72ed\u3081\u3066\u898b\u305f\u76ee\u3092\u6574\u3048\u308b\u3068\u3068\u3082\u306b\u3001\u7269\u3092\u63e1\u308b\u969b\u306e\u5b89\u5b9a\u6027\u3092\u9ad8\u3081\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6307\u306e\u8ef8\u8abf\u6574:<\/strong> \u66f2\u304c\u3063\u3066\u3044\u308b\u6307\u3092\u307e\u3063\u3059\u3050\u306b\u77ef\u6b63\u3057\u3001\u6a5f\u80fd\u6027\u3068\u5916\u898b\u3092\u6539\u5584\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u624b\u8853\u6642\u671f:<\/strong> 1\u6b73\u304b\u3089\u5c31\u5b66\u524d\uff086\u6b73\u9803\uff09\u306b\u304b\u3051\u3066\u3001\u6210\u9577\u306e\u6bb5\u968e\u306b\u5408\u308f\u305b\u3066\u6bb5\u968e\u7684\u306b\u884c\u308f\u308c\u308b\u306e\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u8db3\u306e\u5916\u79d1\u624b\u8853<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6a5f\u80fd\u7684\u518d\u5efa:<\/strong> \u6b69\u884c\u306e\u969c\u5bb3\u3068\u306a\u3063\u3066\u3044\u308b\u90e8\u5206\u306e\u77ef\u6b63\u3002<\/li>\n\n\n\n<li><strong>\u9774\u306e\u5de5\u592b:<\/strong> \u624b\u8853\u3067\u5f62\u3092\u6574\u3048\u308b\u3068\u3068\u3082\u306b\u3001\u30a4\u30f3\u30bd\u30fc\u30eb\uff08\u8db3\u5e95\u633f\u677f\uff09\u3084\u88c5\u5177\u3092\u7528\u3044\u3066\u3001\u5b89\u5b9a\u3057\u305f\u6b69\u884c\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff08\u4f5c\u696d\u7642\u6cd5\u30fb\u7406\u5b66\u7642\u6cd5\uff09<\/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\u98df\u4e8b\u3001\u66f4\u8863\u3001\u66f8\u5b57\u306a\u3069\u306e\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\uff08ADL\uff09\u3092\u30b9\u30e0\u30fc\u30ba\u306b\u7fd2\u5f97\u3067\u304d\u308b\u3088\u3046\u652f\u63f4\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong> \u8db3\u306e\u5909\u5f62\u306b\u4f34\u3046\u6b69\u884c\u306e\u7656\u3092\u88dc\u6b63\u3057\u3001\u30d0\u30e9\u30f3\u30b9\u306e\u826f\u3044\u6b69\u304d\u65b9\u3092\u8eab\u306b\u3064\u3051\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5fc3\u7406\u30fb\u793e\u4f1a\u7684\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6210\u9577\u3068\u3068\u3082\u306b\u3001\u81ea\u5206\u306e\u624b\u8db3\u306e\u5f62\u304c\u4ed6\u4eba\u3068\u9055\u3046\u3053\u3068\u306b\u6c17\u3065\u304d\u3001\u60a9\u3080\u6642\u671f\u304c\u6765\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5fc3\u7406\u58eb\u306b\u3088\u308b\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3084\u3001\u540c\u3058\u75be\u60a3\u3092\u6301\u3064\u5bb6\u65cf\u4f1a\u3068\u306e\u4ea4\u6d41\u304c\u5927\u304d\u306a\u652f\u3048\u3068\u306a\u308a\u307e\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> \u73fe\u4ee3\u306e\u512a\u308c\u305f\u5916\u79d1\u624b\u8853\u3068\u30ea\u30cf\u30d3\u30ea\u306b\u3088\u308a\u3001\u307b\u3068\u3093\u3069\u306e\u60a3\u8005\u69d8\u306f\u65e5\u5e38\u751f\u6d3b\u3092\u81ea\u7acb\u3057\u3066\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u7d30\u304b\u3044\u4f5c\u696d\u3092\u5fc5\u8981\u3068\u3059\u308b\u8077\u696d\u306b\u5c31\u3044\u3066\u3044\u308b\u65b9\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u30fb\u5168\u8eab\u4e88\u5f8c:<\/strong> \u77e5\u80fd\u306f\u6b63\u5e38\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u5b66\u696d\u3084\u793e\u4f1a\u9032\u51fa\u306b\u304a\u3044\u3066\u3001\u624b\u8db3\u306e\u6a5f\u80fd\u7684\u306a\u5236\u9650\u4ee5\u5916\u306b\u5927\u304d\u306a\u969c\u58c1\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u7684\u4e88\u5f8c:<\/strong> \u672c\u4eba\u304c\u5b50\u4f9b\u3092\u6301\u3064\u5834\u5408\u300150%\u306e\u78ba\u7387\u3067\u540c\u3058\u67d3\u8272\u4f53\u91cd\u8907\u304c\u4f1d\u308f\u308a\u307e\u3059\u304c\u3001\u304a\u5b50\u69d8\u306e\u75c7\u72b6\u306e\u91cd\u3055\u306f\u89aa\u3068\u540c\u7b49\u3068\u306f\u9650\u3089\u305a\u3001\u3088\u308a\u8efd\u304b\u3063\u305f\u308a\u3001\u9006\u306b\u91cd\u304b\u3063\u305f\u308a\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3053\u3068\u3092\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u7406\u89e3\u3057\u3066\u304a\u304f\u3053\u3068\u304c\u91cd\u8981\u3067\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 3 (SHFM3) \u306f\u300110\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5c11\u3057\u3060\u3051\u591a\u304f\u5b58\u5728\u3059\u308b\uff08\u5fae\u5c0f\u91cd\u8907\uff09\u3053\u3068\u306b\u3088\u3063\u3066\u3001\u624b\u8db3\u306e\u5f62\u304c\u500b\u6027\u7684\u306b\u4f5c\u3089\u308c\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u771f\u3093\u4e2d\u306e\u6307\u304c\u306a\u3044\u300d\u300c\u6307\u304c\u3064\u306a\u304c\u3063\u3066\u3044\u308b\u300d\u3068\u3044\u3063\u305f\u7279\u5fb4\u3092\u805e\u304f\u3068\u3001\u5c06\u6765\u3092\u5fc3\u914d\u3055\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u3053\u306e\u75c5\u6c17\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001\u304a\u5b50\u69d8\u305f\u3061\u304c\u9a5a\u304f\u307b\u3069\u81ea\u5206\u306e\u624b\u3092\u5de5\u592b\u3057\u3066\u4f7f\u3044\u3053\u306a\u3057\u3001\u4f55\u3067\u3082\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308b\u300c\u9069\u5fdc\u529b\u306e\u9ad8\u3055\u300d\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u4ee3\u306e\u6574\u5f62\u5916\u79d1\u533b\u7642\u306f\u975e\u5e38\u306b\u9032\u6b69\u3057\u3066\u304a\u308a\u3001\u4e00\u6b73\u9803\u304b\u3089\u9069\u5207\u306a\u624b\u8853\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u3088\u308a\u4f7f\u3044\u3084\u3059\u304f\u3001\u6574\u3063\u305f\u5f62\u306b\u8fd1\u3065\u3051\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u77e5\u80fd\u3084\u5185\u81d3\u306e\u5fc3\u914d\u304c\u307b\u3068\u3093\u3069\u306a\u3044\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3053\u3068\u3082\u3001\u5927\u304d\u306a\u5b89\u5fc3\u6750\u6599\u306e\u4e00\u3064\u3067\u3059\u3002\u5c02\u9580\u533b\u306e\u30c1\u30fc\u30e0\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u3001\u304a\u5b50\u69d8\u304c\u300c\u81ea\u5206\u306e\u624b\u8db3\u306f\u3001\u81ea\u5206\u306e\u7d20\u6674\u3089\u3057\u3044\u500b\u6027\u3067\u3042\u308b\u300d\u3068\u81ea\u4fe1\u3092\u6301\u3063\u3066\u6210\u9577\u3057\u3066\u3044\u3051\u308b\u3088\u3046\u3001\u6e29\u304b\u304f\u652f\u3048\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>de Mollerat, X. J., et al.<\/strong> (2003). <em>Split-hand\/split-foot malformation 3 (SHFM3) result from a 10q24 microduplication.<\/em> American Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08SHFM3\u304c10q24\u306e\u5fae\u5c0f\u91cd\u8907\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3053\u3068\u3092\u521d\u3081\u3066\u8a3c\u660e\u3057\u305f\u6b74\u53f2\u7684\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Lyle, R., et al.<\/strong> (2006). <em>Split-hand\/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression in relevant tissues.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u8a3a\u65ad\u65b9\u6cd5\u306e\u78ba\u7acb\u3068\u3001\u8cac\u4efb\u9818\u57df\u306b\u304a\u3051\u308b\u907a\u4f1d\u5b50\u767a\u73fe\u3092\u89e3\u6790\u3057\u305f\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Dimitrov, B. I., et al.<\/strong> (2010). <em>Genotype-phenotype correlation in 10q24 microduplications: Split hand\/foot malformation type 3 and beyond.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u91cd\u8907\u306e\u7bc4\u56f2\u3068\u75c7\u72b6\u306e\u91cd\u3055\u306e\u95a2\u9023\u3092\u8a73\u7d30\u306b\u8abf\u67fb\u3057\u305f\u6587\u732e\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>\uff08\u8a3a\u65ad\u57fa\u6e96\u3001\u5206\u5b50\u907a\u4f1d\u5b66\u3001\u7ba1\u7406\u6307\u91dd\u3092\u7db2\u7f85\u3057\u305f\u4e16\u754c\u7684\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>10q24 microduplications (SHFM3)<\/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>Kano, H., et al.<\/strong> (2005). <em>Genomic reorganization and FBXW4 expression in SHFM3.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08FBXW4\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u4e0d\u5168\u304c\u3069\u306e\u3088\u3046\u306b\u624b\u8db3\u306e\u5f62\u6210\u306b\u5f71\u97ff\u3059\u308b\u304b\u3092\u8003\u5bdf\u3057\u305f\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Saito, T., et al.<\/strong> (2018). <em>Clinical and genetic characteristics of Japanese patients with SHFM3.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u65e5\u672c\u4eba\u75c7\u4f8b\u306b\u304a\u3051\u308bSHFM3\u306e\u7279\u5fb4\u3092\u307e\u3068\u3081\u305f\u56fd\u5185\u306e\u7814\u7a76\u5831\u544a\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-17466","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\/17466","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\/17466\/revisions"}],"predecessor-version":[{"id":17468,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17466\/revisions\/17468"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17466"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}