{"id":17495,"date":"2026-01-22T06:05:45","date_gmt":"2026-01-22T06:05:45","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17495"},"modified":"2026-01-22T06:06:24","modified_gmt":"2026-01-22T06:06:24","slug":"trisomy-17p-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/trisomy-17p-syndrome\/","title":{"rendered":"Trisomy 17p 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><strong>17p\u91cd\u8907\u75c7\u5019\u7fa4\uff0817p duplication syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>17p\u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc\uff08Partial trisomy 17p\uff09<\/strong><\/li>\n\n\n\n<li><strong>17\u756a\u67d3\u8272\u4f53\u77ed\u8155\u30c8\u30ea\u30bd\u30df\u30fc<\/strong><\/li>\n\n\n\n<li><strong>\u95a2\u9023\u75be\u60a3\uff1a\u30dd\u30c8\u30c4\u30ad\u30fb\u30eb\u30d7\u30b9\u30ad\u75c7\u5019\u7fa4 (Potocki-Lupski syndrome; PTLS)<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b17p11.2\u9818\u57df\u306e<strong>\u5fae\u5c0f<\/strong>\u91cd\u8907\u306b\u9650\u5b9a\u3055\u308c\u305f\u75be\u60a3\u3067\u3059\u304c\u300117p\u30c8\u30ea\u30bd\u30df\u30fc\u306e\u8868\u73fe\u578b\u306e\u4e00\u90e8\u3092\u69cb\u6210\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u95a2\u9023\u75be\u60a3\uff1a\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c5 1A\u578b (CMT1A)<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b17p12\u9818\u57df\u306e<em>PMP22<\/em>\u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>\u5fae\u5c0f<\/strong>\u91cd\u8907\u306b\u3088\u308a\u767a\u75c7\u3059\u308b\u672b\u68a2\u795e\u7d4c\u75be\u60a3\u3067\u3059\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>17\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff09\u5168\u4f53\u3001\u307e\u305f\u306f\u4e00\u90e8\uff0817p11.2\u304b\u3089\u672b\u7aef\u9818\u57df\u307e\u3067\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\uff09\u9818\u57df\u304c\u3001\u7d30\u80de\u5185\u306b\u901a\u5e38\u306e2\u672c\u3067\u306f\u306a\u304f\u3001\u5408\u8a083\u672c\u5b58\u5728\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u75c5\u614b\u30e1\u30ab\u30cb\u30ba\u30e0\u3011<\/p>\n\n\n\n<p>17\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306f\u3001\u795e\u7d4c\u7cfb\u306e\u767a\u9054\u3001\u7d30\u80de\u5206\u88c2\u306e\u5236\u5fa1\u3001\u304a\u3088\u3073\u672b\u68a2\u795e\u7d4c\u306e\u7dad\u6301\u306b\u4e0d\u53ef\u6b20\u306a\u907a\u4f1d\u5b50\u304c\u5bc6\u96c6\u3057\u3066\u3044\u308b\u9818\u57df\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e3b\u8981\u306a\u8cac\u4efb\u9818\u57df:<\/strong> 17p\u30c8\u30ea\u30bd\u30df\u30fc\u306e\u5178\u578b\u7684\u306a\u75c7\u72b6\u306b\u306f\u3001<strong>17p11.2<\/strong>\u304b\u3089<strong>17p12<\/strong>\u3001\u304a\u3088\u3073\u672b\u7aef\u306e<strong>17p13<\/strong>\u9818\u57df\u306e\u91cd\u8907\u304c\u6df1\u304f\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>PMP22\u907a\u4f1d\u5b50 (17p12):<\/strong> \u672b\u68a2\u795e\u7d4c\u306e\u9ac4\u9798\uff08\u30df\u30a8\u30ea\u30f3\uff09\u3092\u4f5c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u304c3\u30b3\u30d4\u30fc\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>RAI1\u907a\u4f1d\u5b50 (11p11.2):<\/strong> \u795e\u7d4c\u767a\u9054\u306e\u53f8\u4ee4\u5854\u7684\u306a\u5f79\u5272\u3092\u6301\u3061\u3001\u3053\u306e\u91cd\u8907\u304c\u77e5\u7684\u969c\u5bb3\u3084\u81ea\u9589\u75c7\u7684\u7279\u6027\u306b\u5bc4\u4e0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fae\u5c0f\u91cd\u8907\u306e\u84c4\u7a4d:<\/strong> 17p\u5168\u4f53\u304c\u91cd\u8907\u3057\u3066\u3044\u308b\u72b6\u614b\u306f\u3001\u3053\u308c\u3089\u8907\u6570\u306e<strong>\u5fae\u5c0f<\/strong>\u91cd\u8907\u75be\u60a3\uff08PTLS\u3084CMT1A\uff09\u306e\u75c7\u72b6\u3092\u3059\u3079\u3066\u4f75\u305b\u6301\u3061\u3001\u3055\u3089\u306b\u5e83\u7bc4\u56f2\u306a\u907a\u4f1d\u5b50\u904e\u5270\u306b\u3088\u308b\u591a\u7cfb\u7d71\u306e\u7570\u5e38\u304c\u52a0\u308f\u3063\u305f\u91cd\u75c7\u578b\u3067\u3042\u308b\u3068\u89e3\u91c8\u3055\u308c\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>\u6975\u3081\u3066\u7a00\uff08Ultra-rare\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u63a8\u5b9a\u983b\u5ea6:<\/strong> \u6b63\u78ba\u306a\u51fa\u751f\u983b\u5ea6\u306f\u7b97\u51fa\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u4e16\u754c\u5168\u4f53\u3067\u3082\u533b\u5b66\u6587\u732e\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u306f\u9650\u3089\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\u540c\u7b49\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad\u306e\u50be\u5411:<\/strong> \u591a\u304f\u306e\u75c7\u4f8b\u306f\u3001\u89aa\u306e\u5747\u8861\u578b\u8ee2\u5ea7\u306b\u7531\u6765\u3059\u308b\u300c\u4e0d\u5747\u8861\u8ee2\u5ea7\u300d\u3068\u3057\u3066\u8a3a\u65ad\u3055\u308c\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>Trisomy 17p syndrome\u306e\u81e8\u5e8a\u50cf\u306f\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u7b4b\u7dca\u5f35\u306e\u7570\u5e38\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3001\u305d\u3057\u3066\u672b\u68a2\u795e\u7d4c\u306e\u969c\u5bb3\u306b\u3088\u3063\u3066\u69cb\u6210\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Facial Features\uff09<\/strong><\/p>\n\n\n\n<p>\u8a3a\u65ad\u306e\u793a\u5506\u3068\u306a\u308b\u5171\u901a\u306e\u8eab\u4f53\u7684\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e38\u3044\u9854\u7acb\u3061:<\/strong> \u5e7c\u5150\u671f\u306b\u304a\u3044\u3066\u7279\u306b\u9854\u306e\u8f2a\u90ed\u304c\u4e38\u304f\u3001\u982c\u304c\u3075\u3063\u304f\u3089\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u9593\u958b\u96e2:<\/strong> \u4e21\u76ee\u306e\u9593\u9694\u304c\u5e83\u304f\u96e2\u308c\u3066\u3044\u308b\uff08Hypertelorism\uff09\u3002<\/li>\n\n\n\n<li><strong>\u773c\u77bc\u88c2\u659c\u4e0b:<\/strong> \u76ee\u5c3b\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\uff08Antimongoloid slant\uff09\u3002<\/li>\n\n\n\n<li><strong>\u77ed\u3044\u9f3b\u3068\u5e73\u5766\u306a\u9f3b\u6839\u90e8:<\/strong> \u9f3b\u304c\u5c0f\u3055\u304f\u3001\u4ed8\u3051\u6839\u304c\u4f4e\u3044\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u3055\u306a\u53e3\u3068\u8584\u3044\u4e0a\u5507:<\/strong> \u53e3\u306e\u5e45\u304c\u72ed\u304f\u3001\u4e0a\u5507\u304c\u8584\u3044\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u4f4d\u4ed8\u7740\u8033:<\/strong> \u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u304f\u3001\u8033\u4ecb\u306e\u5f62\u304c\u5358\u7d14\u5316\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u767a\u9054\u3068\u77e5\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3:<\/strong> \u307b\u307c\u3059\u3079\u3066\u306e\u75c7\u4f8b\u3067\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u306e\u7570\u5e38:<\/strong> * <strong>\u4e73\u5150\u671f:<\/strong> \u8457\u3057\u3044\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09\u304c\u898b\u3089\u308c\u3001\u300c\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\u300d\u306e\u72b6\u614b\u3068\u306a\u308a\u307e\u3059\u3002\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u671f:<\/strong> \u9006\u306b\u7b4b\u8089\u304c\u786c\u304f\u306a\u308b\u300c\u75d9\u6027\uff08\u3051\u3044\u305b\u3044\uff09\u300d\u3084\u3001\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u306b\u3088\u308b\u7b4b\u840e\u7e2e\u304c\u6df7\u5728\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u6ede:<\/strong> \u5ea7\u308b\u3001\u6b69\u304f\u3001\u8a00\u8449\u3092\u767a\u3059\u308b\u3068\u3044\u3063\u305f\u767a\u9054\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u5927\u5e45\u306b\u9045\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u672b\u68a2\u795e\u7d4c\u969c\u5bb3\uff08CMT\u69d8\u75c7\u72b6\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>PMP22\u91cd\u8907\u306e\u5f71\u97ff:<\/strong> 17p12\u9818\u57df\u304c\u542b\u307e\u308c\u308b\u5834\u5408\u3001\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c5\u3068\u540c\u69d8\u306e\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u304c\u73fe\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u840e\u7e2e:<\/strong> \u8db3\u306e\u9060\u4f4d\u90e8\uff08\u3075\u304f\u3089\u306f\u304e\u304b\u3089\u4e0b\uff09\u306e\u7b4b\u8089\u304c\u75e9\u305b\u3001\u51f9\u8db3\uff08\u571f\u8e0f\u307e\u305a\u304c\u7570\u5e38\u306b\u9ad8\u3044\uff09\u3084\u5185\u53cd\u8db3\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u611f\u899a\u30fb\u904b\u52d5\u969c\u5bb3:<\/strong> \u624b\u8db3\u306e\u3057\u3073\u308c\u3084\u3001\u529b\u304c\u5165\u308a\u306b\u304f\u3044\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u6210\u9577\u3068\u3068\u3082\u306b\u9032\u884c\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5185\u90e8\u5947\u5f62\u304a\u3088\u3073\u305d\u306e\u4ed6\u306e\u8eab\u4f53\u7684\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3:<\/strong> \u7d0430\u301c50\uff05\u306e\u75c7\u4f8b\u3067\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\uff08ASD\uff09\u3084\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\uff08VSD\uff09\u306a\u3069\u306e\u5fc3\u5947\u5f62\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6210\u9577\u969c\u5bb3:<\/strong> \u80ce\u5185\u767a\u80b2\u4e0d\u5168\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u304f\u3001\u51fa\u751f\u5f8c\u3082\u8eab\u9577\u30fb\u4f53\u91cd\u306e\u4f38\u3073\u304c\u4e0d\u826f\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c\u7570\u5e38:<\/strong> \u810a\u67f1\u5074\u5f2f\u75c7\u3084\u3001\u80f8\u90ed\u306e\u5909\u5f62\u304c\u8a8d\u3081\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u982d\u75c7:<\/strong> \u8133\u306e\u5bb9\u7a4d\u304c\u76f8\u5bfe\u7684\u306b\u5c0f\u3055\u304f\u3001\u982d\u56f2\u304c\u6a19\u6e96\u3092\u4e0b\u56de\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>17p\u9818\u57df\u306e\u91cd\u8907\uff08\u4e0d\u5747\u8861\u8ee2\u5ea7\u307e\u305f\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong><\/p>\n\n\n\n<p>17p\u30c8\u30ea\u30bd\u30df\u30fc\u304c\u751f\u3058\u308b\u30e1\u30ab\u30cb\u30ba\u30e0\u306f\u3001\u4ee5\u4e0b\u306e2\u3064\u306e\u30d1\u30bf\u30fc\u30f3\u304c\u4e3b\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u89aa\u306e\u5747\u8861\u578b\u8ee2\u5ea7\u304b\u3089\u306e\u7d99\u627f\uff08\u7d0470\u301c80%\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30e1\u30ab\u30cb\u30ba\u30e0:<\/strong> \u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3067\u3059\u3002\u4f8b\u3048\u3070\u300117\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u3068\u4ed6\u306e\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u307e\u3059\u3002\u89aa\u672c\u4eba\u306f\u907a\u4f1d\u5b50\u91cf\u306b\u904e\u4e0d\u8db3\u304c\u306a\u3044\u305f\u3081\u5065\u5eb7\u3067\u3059\u304c\u3001\u6e1b\u6570\u5206\u88c2\u306e\u969b\u306b\u300117p\u3092\u4f59\u5206\u306b\u542b\u3080\u67d3\u8272\u4f53\u304c\u53d7\u7cbe\u5375\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u3068\u300117p\u30c8\u30ea\u30bd\u30df\u30fc\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f75\u767a\u3059\u308b\u6b20\u5931:<\/strong> \u3053\u306e\u5834\u5408\u3001\u5225\u306e\u67d3\u8272\u4f53\u306e\u672b\u7aef\u304c\u300c\u6b20\u5931\u300d\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u75c7\u72b6\u304c\u3055\u3089\u306b\u91cd\u7be4\u5316\u3059\u308b\u8981\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u65b0\u751f\u7a81\u7136\u5909\u7570\uff08De novo\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30e1\u30ab\u30cb\u30ba\u30e0:<\/strong> \u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3059\u304c\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u306b17p\u306e\u91cd\u8907\u304c\u751f\u3058\u308b\u30b1\u30fc\u30b9\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b49\u8155\u67d3\u8272\u4f5317p:<\/strong> 17\u756a\u67d3\u8272\u4f53\u304c\u4e2d\u5fc3\u4f53\u3067\u6a2a\u306b\u5272\u308c\u3001\u77ed\u8155\u306e\u307f\u30922\u3064\u6301\u3064\u300c\u7b49\u8155\u67d3\u8272\u4f53\u300d\u304c\u5f62\u6210\u3055\u308c\u308b\u30bf\u30a4\u30d7\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fae\u5c0f\u91cd\u8907\u306e\u9032\u5c55:<\/strong> \u7a00\u306b\u3001\u65e2\u5b58\u306e<strong>\u5fae\u5c0f<\/strong>\u91cd\u8907\u304c\u7d44\u63db\u3048\u30a8\u30e9\u30fc\u306b\u3088\u308a\u62e1\u5927\u3059\u308b\u30b1\u30fc\u30b9\u3082\u60f3\u5b9a\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u81e8\u5e8a\u7684\u306a\u591a\u767a\u5947\u5f62\u3084\u767a\u9054\u9045\u6ede\u304b\u3089\u672c\u75c7\u5019\u7fa4\u3092\u7591\u3044\u3001\u67d3\u8272\u4f53\u30fb\u30b2\u30ce\u30e0\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u6838\u578b\u5206\u6790\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09:<br>\u9855\u5fae\u93e1\u3067\u67d3\u8272\u4f53\u306e\u6570\u3068\u5f62\u3092\u8abf\u3079\u300117\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\u304c\u9577\u3044\u3001\u3042\u308b\u3044\u306f\u4f59\u5206\u306a\u65ad\u7247\u304c\u3042\u308b\u3053\u3068\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<br>\u78ba\u5b9a\u8a3a\u65ad\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3067\u3059\u300217p\u9818\u57df\u306e\u3069\u306e\u7bc4\u56f2\u304c\u3001\u3069\u306e\u7a0b\u5ea6\u306e\u30b5\u30a4\u30ba\uff08\u5fae\u5c0f\u91cd\u8907\u306e\u7bc4\u56f2\uff09\u3067\u91cd\u8907\u3057\u3066\u3044\u308b\u304b\u3092\u7cbe\u5bc6\u306b\u7279\u5b9a\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001CMT1A\uff08PMP22\uff09\u3084PTLS\uff08RAI1\uff09\u306e\u9818\u57df\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3092\u5224\u65ad\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>FISH\u6cd5:<br>17p\u7279\u7570\u7684\u306a\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u3066\u3001\u30b3\u30d4\u30fc\u6570\u304c3\u3064\u5b58\u5728\u3059\u308b\u3053\u3068\u3092\u8996\u899a\u7684\u306b\u8a3c\u660e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u30fb\u6a5f\u80fd\u8a3a\u65ad:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u30a8\u30b3\u30fc:<\/strong> \u5148\u5929\u6027\u5fc3\u75be\u60a3\u306e\u691c\u7d22\u3002<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u4f1d\u5c0e\u901f\u5ea6\u691c\u67fb:<\/strong> \u672b\u68a2\u795e\u7d4c\u969c\u5bb3\uff08CMT\u69d8\u75c7\u72b6\uff09\u306e\u7a0b\u5ea6\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u982d\u90e8MRI:<\/strong> \u8133\u306e\u69cb\u9020\u7570\u5e38\u3092\u78ba\u8a8d\u3057\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\u904e\u5270\u306a\u907a\u4f1d\u5b50\u3092\u6b63\u5e38\u5316\u3059\u308b\u300d\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6cbb\u7642\u306f\u3001\u591a\u7cfb\u7d71\u306e\u5408\u4f75\u75c7\u3092\u7ba1\u7406\u3057\u3001QOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u3092\u5411\u4e0a\u3055\u305b\u308b\u305f\u3081\u306e**\u300c\u5305\u62ec\u7684\u306a\u30c1\u30fc\u30e0\u533b\u7642\u300d**\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff08\u65e9\u671f\u4ecb\u5165\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong> \u4f4e\u7dca\u5f35\u3084\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u306b\u4f34\u3046\u7b4b\u529b\u4f4e\u4e0b\u306b\u5bfe\u3057\u3001\u904b\u52d5\u6a5f\u80fd\u306e\u7dad\u6301\u3068\u5909\u5f62\u9632\u6b62\uff08\u88c5\u5177\u306e\u4f7f\u7528\u306a\u3069\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u624b\u5148\u306e\u6a5f\u80fd\u7dad\u6301\u3084\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u306e\u652f\u63f4\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09:<\/strong> \u6442\u98df\u56a5\u4e0b\u8a13\u7df4\u304a\u3088\u3073\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5185\u79d1\u7684\u30fb\u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u81d3\u624b\u8853:<\/strong> \u91cd\u7be4\u306a\u5fc3\u5947\u5f62\u304c\u3042\u308b\u5834\u5408\u3001\u9069\u5207\u306a\u6642\u671f\u306b\u5916\u79d1\u7684\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1\u7684\u4ecb\u5165:<\/strong> \u810a\u67f1\u5074\u5f2f\u75c7\u3084\u8db3\u306e\u5909\u5f62\uff08\u5185\u53cd\u8db3\uff09\u306b\u5bfe\u3059\u308b\u88c5\u5177\u7642\u6cd5\u3084\u624b\u8853\u3002<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u5185\u79d1\u7684\u7ba1\u7406:<\/strong> \u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u306e\u9032\u884c\u3092\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3057\u3001\u75db\u307f\u306e\u7ba1\u7406\u3084\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u306e\u8abf\u6574\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u6559\u80b2\u30fb\u767a\u9054\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u767a\u9054\u6bb5\u968e\u306b\u5408\u308f\u305b\u305f\u7279\u5225\u652f\u63f4\u6559\u80b2\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u4ee5\u5916\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\uff08\u7d75\u30ab\u30fc\u30c9\u3001\u8996\u899a\u652f\u63f4\u3001\u30c7\u30d0\u30a4\u30b9\uff09\u306e\u5c0e\u5165\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>\u751f\u5b58\u671f\u9593:<\/strong> \u5fc3\u75be\u60a3\u306a\u3069\u306e\u91cd\u8981\u81d3\u5668\u306e\u5408\u4f75\u75c7\u306e\u91cd\u75c7\u5ea6\u306b\u4f9d\u5b58\u3057\u307e\u3059\u3002\u9069\u5207\u306a\u533b\u7642\u30b1\u30a2\u304c\u884c\u308f\u308c\u308c\u3070\u3001\u6210\u4eba\u671f\u3092\u8fce\u3048\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u304c\u3001\u547c\u5438\u5668\u611f\u67d3\u75c7\u306a\u3069\u3078\u306e\u6ce8\u610f\u304c\u7d99\u7d9a\u7684\u306b\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u751f\u6d3b\u306e\u8cea:<\/strong> \u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u305f\u3081\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u624b\u539a\u3044\u4ecb\u8b77\u3068\u793e\u4f1a\u7684\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u3067\u3059\u3002\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u304c\u9032\u884c\u3059\u308b\u5834\u5408\u3001\u79fb\u52d5\u80fd\u529b\u306e\u7dad\u6301\u304c\u6210\u4eba\u671f\u306e\u8ab2\u984c\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>Trisomy 17p syndrome\uff0817p\u30c8\u30ea\u30bd\u30df\u30fc\u75c7\u5019\u7fa4\uff09\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u901a\u5e38\u3088\u308a1\u3064\u5206\u591a\u304f\u5b58\u5728\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u67d3\u8272\u4f53\u7570\u5e38\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e38\u307f\u3092\u5e2f\u3073\u305f\u9854\u7acb\u3061\u3084\u3001\u767a\u9054\u306e\u3086\u3063\u304f\u308a\u3055\u3001\u305d\u3057\u3066\u624b\u8db3\u306e\u7b4b\u8089\u3084\u795e\u7d4c\u306e\u5f31\u3055\u304c\u4e3b\u306a\u7279\u5fb4\u3068\u3057\u3066\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u8907\u6570\u306e\u5927\u5207\u306a\u907a\u4f1d\u5b50\uff08\u795e\u7d4c\u3092\u7dad\u6301\u3059\u308bPMP22\u3084\u3001\u767a\u9054\u3092\u4fc3\u3059RAI1\u306a\u3069\uff09\u304c\u904e\u5270\u306b\u50cd\u3044\u3066\u3057\u307e\u3046\u3053\u3068\u3067\u3001\u5168\u8eab\u306b\u3055\u307e\u3056\u307e\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u591a\u304f\u306e\u5834\u5408\u3001\u89aa\u5fa1\u3055\u3093\u306e\u67d3\u8272\u4f53\u306e\u69cb\u9020\u5909\u5316\u304c\u304d\u3063\u304b\u3051\u3068\u306a\u308a\u307e\u3059\u304c\u3001\u305d\u308c\u306f\u8ab0\u306e\u305b\u3044\u3067\u3082\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u65e9\u304f\u304b\u3089\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3092\u59cb\u3081\u3001\u6574\u5f62\u5916\u79d1\u3084\u5faa\u74b0\u5668\u79d1\u306a\u3069\u306e\u5c02\u9580\u533b\u3068\u9023\u643a\u3059\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u306e\u6301\u3064\u53ef\u80fd\u6027\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3057\u3001\u5065\u3084\u304b\u306a\u751f\u6d3b\u3092\u652f\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u5c02\u9580\u533b\u3084\u7642\u80b2\u30c1\u30fc\u30e0\u3068\u5171\u306b\u3001\u304a\u5b50\u69d8\u306e\u6b69\u5e45\u306b\u5408\u308f\u305b\u305f\u6210\u9577\u3092\u9577\u304f\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>Jin, W., et al.<\/strong> (2007). <em>Complete trisomy 17p der(17)t(17;17)(p11.2;p11.2) diagnosed by FISH and array CGH.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08FISH\u3068\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4CGH\u3092\u7528\u3044\u306617p\u5b8c\u5168\u30c8\u30ea\u30bd\u30df\u30fc\u3092\u540c\u5b9a\u3057\u305f\u75c7\u4f8b\u5831\u544a\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Schinzel, A.<\/strong> (2001). <em>Catalogue of Unbalanced Chromosome Aberrations in Man.<\/em> Walter de Gruyter.\n<ul class=\"wp-block-list\">\n<li>\uff0817p\u30c8\u30ea\u30bd\u30df\u30fc\u3092\u542b\u3080\u4e0d\u5747\u8861\u67d3\u8272\u4f53\u7570\u5e38\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3092\u7db2\u7f85\u3057\u305f\u4e16\u754c\u7684\u6587\u732e\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Potocki, L., et al.<\/strong> (2007). <em>Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff0817p11.2\u91cd\u8907\u306e\u5f71\u97ff\u3092\u89e3\u660e\u3057\u300117p\u30c8\u30ea\u30bd\u30df\u30fc\u306e\u795e\u7d4c\u5b66\u7684\u75c7\u72b6\u306e\u7406\u89e3\u306b\u5bc4\u4e0e\u3057\u305f\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>PMP22-Related Hereditary Neuropathy<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff0817p12\u9818\u57df\u306e\u91cd\u8907\uff08CMT1A\uff09\u306b\u95a2\u3059\u308b\u8a3a\u65ad\u3068\u7ba1\u7406\u306e\u6a19\u6e96\u7684\u30ea\u30d5\u30a1\u30ec\u30f3\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>17p duplications: A guide for families<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\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\u8cc7\u6599\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Orphanet<\/strong>: <em>Trisomy 17p (ORPHA:96152)<\/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\u3068\u30ea\u30bd\u30fc\u30b9\u60c5\u5831\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Lupski, J. R.<\/strong> (1991). <em>DNA duplication associated with Charcot-Marie-Tooth disease type 1A.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff0817p\u306e\u91cd\u8907\u304c\u672b\u68a2\u795e\u7d4c\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u89e3\u660e\u3057\u305f\u6b74\u53f2\u7684\u8ad6\u6587\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-17495","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\/17495","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\/17495\/revisions"}],"predecessor-version":[{"id":17497,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17495\/revisions\/17497"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17495"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}