{"id":17492,"date":"2026-01-22T06:03:23","date_gmt":"2026-01-22T06:03:23","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17492"},"modified":"2026-01-22T06:03:23","modified_gmt":"2026-01-22T06:03:23","slug":"trisomy-12p-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/trisomy-12p-syndrome\/","title":{"rendered":"Trisomy 12p 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>12p\u91cd\u8907\u75c7\u5019\u7fa4\uff0812p duplication syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>12p\u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc\uff08Partial trisomy 12p\uff09<\/strong><\/li>\n\n\n\n<li><strong>12\u756a\u67d3\u8272\u4f53\u77ed\u8155\u30c8\u30ea\u30bd\u30df\u30fc<\/strong><\/li>\n\n\n\n<li><strong>\u95a2\u9023\u75be\u60a3\uff1a\u30d4\u30ea\u30fb\u30eb\u30c3\u30c1\u30a7\u30fb\u30c7\u30fb\u30d5\u30ea\u30fc\u30b9\u75c7\u5019\u7fa4 (Pilli-Lutski-de Vries syndrome)<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b12p12.1\u9818\u57df\u306e<strong>\u5fae\u5c0f<\/strong>\u91cd\u8907\u306a\u3069\u3001\u7279\u5b9a\u306e\u9818\u57df\u306b\u9650\u5b9a\u3055\u308c\u305f\u91cd\u8907\u306b\u95a2\u9023\u3059\u308b\u75be\u60a3\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9451\u5225\u75be\u60a3\uff1a\u30d1\u30ea\u30b9\u30bf\u30fc\u30fb\u30ad\u30ea\u30a2\u30f3\u75c7\u5019\u7fa4 (Pallister-Killian syndrome; PKS)<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b12p\u306e\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\uff084\u672c\u5b58\u5728\uff09\u3092\u5448\u3059\u308b\u75be\u60a3\u3067\u3042\u308a\u3001\u81e8\u5e8a\u75c7\u72b6\u304c\u91cd\u306a\u308b\u305f\u3081\u9451\u5225\u304c\u91cd\u8981\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>12\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff09\u5168\u4f53\u3001\u307e\u305f\u306f\u4e00\u90e8\uff0812p13\u304b\u3089\u672b\u7aef\u4ed8\u8fd1\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306f\u300112\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>12\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\u306b\u306f\u3001\u8133\u306e\u5f62\u6210\u3001\u9aa8\u683c\u306e\u767a\u9054\u3001\u304a\u3088\u3073\u7d30\u80de\u5185\u4ee3\u8b1d\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u591a\u6570\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8cac\u4efb\u9818\u57df:<\/strong> \u591a\u304f\u306e\u5831\u544a\u3067\u306f\u3001<strong>12p13<\/strong> \u9818\u57df\u3092\u542b\u3080\u91cd\u8907\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306b\u7279\u6709\u306e\u81e8\u5e8a\u50cf\uff08\u9854\u8c8c\u3084\u77e5\u7684\u969c\u5bb3\uff09\u306b\u5f37\u304f\u5bc4\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u91cf\u52b9\u679c:<\/strong> \u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u304c\u904e\u5270\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7523\u751f\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u307e\u3059\u3002\u4f8b\u3048\u3070\u300112p\u306b\u306f\u7cd6\u4ee3\u8b1d\u3084\u7d30\u80de\u5468\u671f\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u304c\u591a\u304f\u5b58\u5728\u3057\u3001\u3053\u308c\u3089\u306e\u300c\u904e\u5270\u767a\u73fe\u300d\u304c\u80da\u767a\u751f\u306e\u30d7\u30ed\u30bb\u30b9\u3092\u59a8\u3052\u3001\u591a\u7cfb\u7d71\u306e\u5f62\u614b\u7570\u5e38\u3092\u62db\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fae\u5c0f\u91cd\u8907\u306e\u95a2\u4e0e:<\/strong> \u4ee5\u524d\u306f\u67d3\u8272\u4f53\u5168\u4f53\u304c\u898b\u3048\u308b\u6838\u578b\u5206\u6790\u3067\u306e\u8a3a\u65ad\u304c\u4e3b\u3067\u3057\u305f\u304c\u3001\u73fe\u5728\u306f\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u306b\u3088\u308a\u300112p\u9818\u57df\u5185\u306e\u7279\u5b9a\u306e<strong>\u5fae\u5c0f<\/strong>\u306a\u91cd\u8907\u3067\u3042\u3063\u3066\u3082\u3001\u985e\u4f3c\u306e\u75c7\u72b6\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\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\u7684\u306b\u898b\u3066\u3082\u5831\u544a\u4f8b\u306f\u9650\u3089\u308c\u3066\u304a\u308a\u3001\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u306b\u5206\u985e\u3055\u308c\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>\u4e88\u5f8c\u3068\u306e\u95a2\u9023:<\/strong> \u81ea\u7136\u6d41\u7523\u306b\u81f3\u308b\u30b1\u30fc\u30b9\u3082\u5c11\u306a\u304f\u306a\u3044\u3068\u63a8\u6e2c\u3055\u308c\u3066\u304a\u308a\u3001\u51fa\u751f\u306b\u81f3\u308b\u306e\u306f\u4e00\u90e8\u306e\u75c7\u4f8b\u3067\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 12p syndrome\u306e\u81e8\u5e8a\u50cf\u306f\u591a\u5c90\u306b\u308f\u305f\u308a\u3001\u8eab\u4f53\u7684\u7279\u5fb4\u3001\u77e5\u7684\u767a\u9054\u3001\u5185\u90e8\u5947\u5f62\u306e3\u3064\u306e\u5074\u9762\u3067\u9855\u8457\u306a\u6240\u898b\u304c\u898b\u3089\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\u9854\u7acb\u3061\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> \u982c\u304c\u3075\u3063\u304f\u3089\u3068\u3057\u3066\u304a\u308a\u3001\u9854\u5168\u4f53\u304c\u4e38\u307f\u3092\u5e2f\u3073\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5e83\u3044\u984d:<\/strong> \u984d\u304c\u7a81\u304d\u51fa\u3057\u3066\u304a\u308a\u3001\u5e83\u304f\u898b\u3048\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\u3002<\/li>\n\n\n\n<li><strong>\u773c\u77bc\u88c2\u659c\u4e0b:<\/strong> \u76ee\u5c3b\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\uff08\u30bf\u30ec\u76ee\u69d8\uff09\u3002<\/li>\n\n\n\n<li><strong>\u9f3b:<\/strong> \u9f3b\u6839\u90e8\u304c\u5e73\u5766\u3067\u3001\u9f3b\u5148\u304c\u77ed\u304f\u4e38\u3044\u3002\u9f3b\u5b54\u304c\u524d\u3092\u5411\u3044\u3066\u3044\u308b\uff08\u7345\u5b50\u9f3b\u69d8\uff09\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8033:<\/strong> \u4f4e\u4f4d\u4ed8\u7740\u8033\uff08\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\uff09\u3001\u3042\u308b\u3044\u306f\u8033\u4ecb\u304c\u5f8c\u65b9\u306b\u56de\u8ee2\u3057\u3066\u3044\u308b\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\u4f4e\u4e0b\uff08Hypotonia\uff09:<\/strong> \u4e73\u5150\u671f\u306b\u8457\u3057\u3044\u300c\u4f53\u306e\u67d4\u3089\u304b\u3055\u300d\u304c\u898b\u3089\u308c\u3001\u3053\u308c\u304c\u9996\u3059\u308f\u308a\u3084\u304a\u5ea7\u308a\u3001\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u3092\u5927\u5e45\u306b\u9045\u3089\u305b\u308b\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c:<\/strong> \u904b\u52d5\u767a\u9054\u4ee5\u4e0a\u306b\u3001\u8a00\u8449\u306e\u7372\u5f97\u306b\u5f37\u3044\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5185\u90e8\u5947\u5f62\u304a\u3088\u3073\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> \u7d0420\u301c40\uff05\u306e\u75c7\u4f8b\u3067\u3001\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\uff08VSD\uff09\u3084\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\uff08ASD\uff09\u306a\u3069\u306e\u5fc3\u5947\u5f62\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c\u7570\u5e38:<\/strong> \u80f8\u90ed\u306e\u5909\u5f62\u3001\u5074\u5f2f\u75c7\u3001\u6307\u306e\u5909\u5f62\uff08\u77ed\u6307\u75c7\u3084\u6307\u306e\u91cd\u306a\u308a\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6210\u9577\u4e0d\u5168:<\/strong> \u51fa\u751f\u6642\u306f\u6a19\u6e96\u7684\u3067\u3042\u3063\u3066\u3082\u3001\u51fa\u751f\u5f8c\u306e\u8eab\u9577\u30fb\u4f53\u91cd\u306e\u5897\u52a0\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308a\u3001\u4f4e\u8eab\u9577\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6ccc\u5c3f\u751f\u6b96\u5668\u7570\u5e38:<\/strong> \u7537\u5150\u306b\u304a\u3051\u308b\u505c\u7559\u7cbe\u5de3\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>12p\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>12p\u30c8\u30ea\u30bd\u30df\u30fc\u304c\u751f\u3058\u308b\u30e1\u30ab\u30cb\u30ba\u30e0\u306b\u306f\u3001\u4e3b\u306b\u4ee5\u4e0b\u306e2\u3064\u306e\u30d1\u30bf\u30fc\u30f3\u304c\u3042\u308a\u307e\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<p>\u6700\u3082\u4e00\u822c\u7684\u306a\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e0d\u5747\u8861\u8ee2\u5ea7:<\/strong> \u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u304c\u3001\u91cf\u306f\u6b63\u5e38\u306a\u306e\u3067\u672c\u4eba\u306f\u5065\u5eb7\uff09\u300d\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3067\u3059\u3002\u6e1b\u6570\u5206\u88c2\u306e\u969b\u306b\u300112p\u306e\u65ad\u7247\u304c\u4f59\u5206\u306b\u542b\u307e\u308c\u305f\u67d3\u8272\u4f53\u304c\u53d7\u3051\u7d99\u304c\u308c\u308b\u3068\u3001\u4e0d\u5747\u8861\u8ee2\u5ea7\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u968f\u4f34\u3059\u308b\u6b20\u5931:<\/strong> \u3053\u306e\u5834\u5408\u3001\u5225\u306e\u67d3\u8272\u4f53\u306e\u672b\u7aef\u90e8\u5206\u304c\u300c\u6b20\u5931\u300d\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u75c7\u72b6\u304c\u3088\u308a\u8907\u96d1\u5316\u3059\u308b\u50be\u5411\u304c\u3042\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<p>\u89aa\u306e\u67d3\u8272\u4f53\u69cb\u6210\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u306b12p\u306e\u91cd\u8907\u304c\u751f\u3058\u308b\u30b1\u30fc\u30b9\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b49\u8155\u67d3\u8272\u4f5312p\uff08i(12p)\uff09:<\/strong> 12\u756a\u67d3\u8272\u4f53\u304c\u6a2a\u306b\u5272\u308c\u300112p\u3060\u3051\u30922\u3064\u6301\u3064\u7b49\u8155\u67d3\u8272\u4f53\u304c\u5f62\u6210\u3055\u308c\u308b\u30bf\u30a4\u30d7\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\uff08\u3053\u308c\u304c\u5168\u8eab\u306e\u7d30\u80de\u306b\u3042\u308b\u5834\u5408\u306f12p\u30c8\u30ea\u30bd\u30df\u30fc\u3068\u306a\u308a\u3001\u4e00\u90e8\u306e\u7d30\u80de\u306b\u3042\u308b\u5834\u5408\u306f\u30d1\u30ea\u30b9\u30bf\u30fc\u30fb\u30ad\u30ea\u30a2\u30f3\u75c7\u5019\u7fa4\u3068\u306a\u308a\u307e\u3059\uff09\u3002<\/li>\n\n\n\n<li><strong>\u5fae\u5c0f\u91cd\u8907:<\/strong> 12p\u9818\u57df\u5185\u3067\u5076\u7136\u306b\u8d77\u3053\u308b<strong>\u5fae\u5c0f<\/strong>\u306a\u91cd\u8907\u3082\u3053\u308c\u306b\u542b\u307e\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\u7279\u5fb4\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\u4e0b\u3067\u67d3\u8272\u4f53\u306e\u6570\u3068\u5f62\u3092\u8abf\u3079\u300112p\u306e\u904e\u5270\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\u300212p\u9818\u57df\u306e\u3069\u306e\u90e8\u5206\u304c\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<\/li>\n\n\n\n<li>FISH\u6cd5:<br>12p\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\u89aa\u306e\u4fdd\u56e0\u72b6\u614b\uff08\u8ee2\u5ea7\u306e\u6709\u7121\uff09\u3092\u78ba\u8a8d\u3059\u308b\u969b\u306b\u3082\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u753b\u50cf\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>\u982d\u90e8MRI:<\/strong> \u8133\u306e\u69cb\u9020\u7570\u5e38\uff08\u8133\u6881\u6b20\u640d\u3084\u8133\u5ba4\u62e1\u5927\u306a\u3069\uff09\u306e\u78ba\u8a8d\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>\u73fe\u4ee3\u306e\u533b\u5b66\u306b\u304a\u3044\u3066\u3001\u904e\u5270\u306a\u67d3\u8272\u4f53\u9818\u57df\u3092\u6b63\u5e38\u5316\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6cbb\u7642\u306f\u3001\u75c7\u72b6\u3092\u7ba1\u7406\u3057\u751f\u6d3b\u3092\u30b5\u30dd\u30fc\u30c8\u3059\u308b**\u300c\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5bfe\u75c7\u7642\u6cd5\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> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u5bfe\u3059\u308b\u30b5\u30dd\u30fc\u30c8\u3002\u904b\u52d5\u6a5f\u80fd\u306e\u7372\u5f97\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u624b\u5148\u306e\u6a5f\u80fd\u3084\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\uff08\u98df\u4e8b\u3001\u66f4\u8863\u306a\u3069\uff09\u306e\u8a13\u7df4\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09:<\/strong> \u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4\u3002\u767a\u8a9e\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\u4ee3\u66ff\u624b\u6bb5\uff08\u7d75\u30ab\u30fc\u30c9\u3084\u30c7\u30d0\u30a4\u30b9\uff09\u306e\u6d3b\u7528\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5916\u79d1\u7684\u30fb\u5185\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\u77ef\u6b63\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6210\u9577\u7ba1\u7406:<\/strong> \u4f4e\u8eab\u9577\u3084\u6442\u98df\u306e\u554f\u984c\uff08\u56a5\u4e0b\u56f0\u96e3\uff09\u306b\u5bfe\u3057\u3001\u5185\u5206\u6ccc\u79d1\u3084\u5c0f\u5150\u5916\u79d1\u3068\u9023\u643a\u3057\u305f\u7ba1\u7406\u3002<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1\u7684\u30d5\u30a9\u30ed\u30fc:<\/strong> \u5074\u5f2f\u75c7\u306a\u3069\u306e\u9aa8\u683c\u5909\u5f62\u306b\u5bfe\u3059\u308b\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u6559\u80b2\u30fb\u793e\u4f1a\u7684\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>\u5bb6\u65cf\u306e\u5fc3\u7406\u7684\u30b1\u30a2\u3001\u304a\u3088\u3073\u5730\u57df\u306e\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u306e\u6d3b\u7528\uff08\u30ec\u30b9\u30d1\u30a4\u30c8\u30b1\u30a2\u306a\u3069\uff09\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\u5185\u90e8\u5947\u5f62\u306e\u91cd\u75c7\u5ea6\u306b\u4f9d\u5b58\u3057\u307e\u3059\u304c\u3001\u9069\u5207\u306a\u533b\u7642\u30b1\u30a2\u304c\u3042\u308c\u3070\u3001\u591a\u304f\u306e\u65b9\u304c\u6210\u4eba\u671f\u3092\u8fce\u3048\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u7acb\u5ea6:<\/strong> \u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u751f\u6daf\u306b\u308f\u305f\u308a\u624b\u539a\u3044\u793e\u4f1a\u7684\u30b5\u30dd\u30fc\u30c8\u3068\u4ecb\u8b77\u304c\u5fc5\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>Trisomy 12p syndrome\uff0812p\u30c8\u30ea\u30bd\u30df\u30fc\u75c7\u5019\u7fa4\uff09\u306f\u300112\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\u3075\u3063\u304f\u3089\u3057\u305f\u9854\u7acb\u3061\u3001\u5e83\u3044\u984d\u3001\u305d\u3057\u3066\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b\uff08\u4f53\u304c\u67d4\u3089\u304b\u3044\u3053\u3068\uff09\u304c\u4e3b\u306a\u7279\u5fb4\u3068\u3057\u3066\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u8a00\u8449\u306e\u767a\u9054\u3084\u904b\u52d5\u306e\u7372\u5f97\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\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\u8a3a\u65ad\u540d\u3092\u77e5\u308b\u3053\u3068\u306f\u3001\u304a\u5b50\u69d8\u304c\u62b1\u3048\u308b\u56f0\u96e3\u306e\u539f\u56e0\u3092\u7406\u89e3\u3057\u3001\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u308b\u305f\u3081\u306e\u300c\u7b2c\u4e00\u6b69\u300d\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u65e9\u671f\u304b\u3089\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3092\u59cb\u3081\u3001\u533b\u7642\u30c1\u30fc\u30e0\u3068\u5bc6\u306b\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\u3059\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>Uchida, I. A., &amp; Lin, C. C.<\/strong> (1973). <em>Identification of partial trisomy 12p by quinacrine fluorescence.<\/em> Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff0812p\u30c8\u30ea\u30bd\u30df\u30fc\u3092\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u624b\u6cd5\u3067\u540c\u5b9a\u3057\u305f\u6700\u521d\u671f\u306e\u5831\u544a\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Allen, J. W., et al.<\/strong> (1996). <em>Trisomy 12p syndrome: A report of ten cases and a review of the literature.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff0810\u75c7\u4f8b\u306e\u81e8\u5e8a\u7d4c\u904e\u3092\u307e\u3068\u3081\u3001\u672c\u75c7\u5019\u7fa4\u306e\u5178\u578b\u7684\u306a\u30d5\u30a7\u30ce\u30bf\u30a4\u30d7\u3092\u5b9a\u7fa9\u3057\u305f\u6587\u732e\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>12p13.33 Microduplication Syndrome \/ Trisomy 12p<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u6700\u65b0\u306e\u533b\u5b66\u7684\u77e5\u898b\u3001\u8a3a\u65ad\u3001\u7ba1\u7406\u6307\u91dd\u304c\u7db2\u7f85\u3055\u308c\u3066\u3044\u308b\u4e16\u754c\u7684\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Orphanet<\/strong>: <em>Trisomy 12p (ORPHA:96149)<\/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>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>12p 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>Pilli, N., et al.<\/strong> (2012). <em>Pilli-Lutski-de Vries syndrome: Characterization of 12p12.1 microduplications.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff0812p\u5185\u306e<strong>\u5fae\u5c0f<\/strong>\u91cd\u8907\u3068\u7279\u5b9a\u306e\u75c7\u5019\u7fa4\u306e\u95a2\u9023\u3092\u8a18\u8ff0\u3057\u305f\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Zou, Y. S., et al.<\/strong> (2016). <em>Chromosome 12p duplication syndrome: Case reports and literature review.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u8fd1\u5e74\u306e\u75c7\u4f8b\u5831\u544a\u306b\u57fa\u3065\u304f\u3001\u81e8\u5e8a\u7684\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306e\u6700\u65b0\u30ec\u30d3\u30e5\u30fc\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-17492","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\/17492","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":1,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17492\/revisions"}],"predecessor-version":[{"id":17493,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17492\/revisions\/17493"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17492"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}