{"id":17065,"date":"2026-01-21T05:49:21","date_gmt":"2026-01-21T05:49:21","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17065"},"modified":"2026-01-21T05:50:07","modified_gmt":"2026-01-21T05:50:07","slug":"4p-duplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/4p-duplication-syndrome\/","title":{"rendered":"4p duplication 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>4p\u91cd\u8907\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>4p\u30c8\u30ea\u30bd\u30df\u30fc\uff08Trisomy 4p\uff09<\/li>\n\n\n\n<li>\u90e8\u5206\u76844p\u30c8\u30ea\u30bd\u30df\u30fc\uff08Partial trisomy 4p\uff09<\/li>\n\n\n\n<li>4\u756a\u67d3\u8272\u4f53\u77ed\u8155\u91cd\u8907\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>4p\u5fae\u7d30\u91cd\u8907\u75c7\u5019\u7fa4\uff084p microduplication syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u5fae\u7d30\u306a\u91cd\u8907\u306e\u5834\u5408\u306b\u4f7f\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u30a6\u30a9\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7\u5019\u7fa4\uff08Wolf-Hirschhorn syndrome; WHS \/ 4p deletion syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75be\u60a3\u3068\u540c\u3058\u9818\u57df\uff084p16.3\uff09\u304c\u6b20\u5931\u3059\u308b\u3001\u5bfe\uff08\u3064\u3044\uff09\u3068\u306a\u308b\u75be\u60a3\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a4p16.3\u91cd\u8907\u75c7\u5019\u7fa4<\/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>4\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff09\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e4\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306e\u4e00\u90e8\u3001\u3042\u308b\u3044\u306f\u5168\u4f53\u304c\u91cd\u8907\uff08\u30b3\u30d4\u30fc\u6570\u304c\u901a\u5e38\u306e2\u672c\u304b\u30893\u672c\u306b\u5897\u52a0\uff09\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u5019\u7fa4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u8907\u3059\u308b\u7bc4\u56f2\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u75c7\u5019\u7fa4\u3068\u3057\u3066\u306e\u7279\u5fb4\u304c\u6700\u3082\u9855\u8457\u306b\u73fe\u308c\u308b\u306e\u306f\u30014\u756a\u67d3\u8272\u4f53\u306e**\u672b\u7aef\u90e8\u5206\uff084p16.3\uff09**\u3092\u542b\u3080\u9818\u57df\u304c\u91cd\u8907\u3057\u305f\u5834\u5408\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\u3011<\/p>\n\n\n\n<p>4p\u91cd\u8907\u75c7\u5019\u7fa4\u3092\u7406\u89e3\u3059\u308b\u4e0a\u3067\u91cd\u8981\u306a\u306e\u306f\u3001\u300c\u3069\u306e\u7bc4\u56f2\u304c\u5897\u3048\u3066\u3044\u308b\u304b\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>4p16.3\u3092\u542b\u3080\u672b\u7aef\u91cd\u8907\uff08Distal duplication\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6700\u3082\u4e00\u822c\u7684\u3067\u3001\u7279\u5fb4\u7684\u306a\u81e8\u5e8a\u50cf\u3092\u793a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u9818\u57df\u306f\u3001\u30a6\u30a9\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7\u5019\u7fa4\uff08WHS\uff09\u306e\u8cac\u4efb\u9818\u57df\uff08WHSCR\uff09\u3068\u540c\u3058\u5834\u6240\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Gene Dosage Effect\uff09\uff1a<\/strong> \u907a\u4f1d\u5b50\u304c\u300c\u8db3\u308a\u306a\u3044\uff08\u6b20\u5931\uff09\u300d\u306e\u3068\u300c\u591a\u3059\u304e\u308b\uff08\u91cd\u8907\uff09\u300d\u306e\u3068\u3067\u306f\u3001\u9006\u306e\u4f5c\u7528\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001WHS\uff08\u6b20\u5931\uff09\u3067\u306f\u8457\u3057\u3044\u6210\u9577\u969c\u5bb3\uff08\u4f4e\u8eab\u9577\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u672c\u75be\u60a3\uff08\u91cd\u8907\uff09\u3067\u306f\u9006\u306b**\u300c\u904e\u6210\u9577\uff08\u9ad8\u8eab\u9577\uff09\u300d<strong>\u3084<\/strong>\u300c\u80a5\u6e80\u50be\u5411\u300d**\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e2d\u9593\u91cd\u8907\uff08Interstitial duplication\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672b\u7aef\u3092\u542b\u307e\u305a\u30014p\u306e\u9014\u4e2d\uff08\u4f8b\u3048\u30704p14-p16.1\u306a\u3069\uff09\u3060\u3051\u304c\u5897\u3048\u3066\u3044\u308b\u30bf\u30a4\u30d7\u3067\u3059\u3002\u7bc4\u56f2\u306b\u3088\u3063\u3066\u75c7\u72b6\u306f\u69d8\u3005\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u51684p\u30c8\u30ea\u30bd\u30df\u30fc\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>4\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\u3059\u3079\u3066\u304c\u91cd\u8907\u3057\u3066\u3044\u308b\u72b6\u614b\u3067\u3001\u75c7\u72b6\u306f\u3088\u308a\u91cd\u7be4\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>NSD2 (WHSC1):<\/strong> 4p16.3\u306b\u4f4d\u7f6e\u3059\u308b\u30d2\u30b9\u30c8\u30f3\u30e1\u30c1\u30eb\u5316\u9175\u7d20\u3002\u8eab\u4f53\u306e\u6210\u9577\u5236\u5fa1\u306b\u95a2\u308f\u308a\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u904e\u5270\u304c\u300c\u904e\u6210\u9577\u300d\u3084\u300c\u9aa8\u683c\u5f62\u6210\u300d\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>LETM1:<\/strong> \u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u306b\u95a2\u308f\u308a\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u3068\u306e\u95a2\u9023\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>FGFR3:<\/strong> \u9aa8\u306e\u6210\u9577\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3042\u308a\u3001\u982d\u84cb\u9aa8\u3084\u56db\u80a2\u306e\u767a\u9054\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\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>\u7a00\uff08Rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u5bfe\u3068\u306a\u308b\u300c\u30a6\u30a9\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7\u5019\u7fa4\uff084p\u6b20\u5931\uff09\u300d\u306f\u7d0450,000\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u30014p\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u5831\u544a\u6570\u306f\u305d\u308c\u3088\u308a\u3082\u5c11\u306a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u300c\u767a\u751f\u3057\u3066\u3044\u306a\u3044\u300d\u306e\u3067\u306f\u306a\u304f\u3001\u7279\u5fb4\u7684\u306a\u5947\u5f62\u304c\u5c11\u306a\u3044\u8efd\u75c7\u4f8b\u306b\u304a\u3044\u3066\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\uff08\u904e\u5c11\u8a3a\u65ad\uff09\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6027\u5225\u306b\u3088\u308b\u767a\u751f\u983b\u5ea6\u306e\u5dee\u306f\u306a\u304f\u3001\u7537\u5150\u306b\u3082\u5973\u5150\u306b\u3082\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>4p duplication syndrome\u306e\u75c7\u72b6\u306f\u3001\u91cd\u8907\u3059\u308b\u67d3\u8272\u4f53\u306e\u30b5\u30a4\u30ba\u3084\u5834\u6240\u306b\u3088\u3063\u3066\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001**\u300c\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u300c\u624b\u8db3\u306e\u7570\u5e38\u300d**\u304c3\u5927\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u30014p16.3\u9818\u57df\u3092\u542b\u3080\u91cd\u8907\u3067\u306f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7279\u5fb4\u7684\u306a\u81e8\u5e8a\u50cf\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>4p\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u300c\u30ae\u30ea\u30b7\u30e3\u5175\u306e\u30d8\u30eb\u30e1\u30c3\u30c8\u69d8\u300d\u3068\u547c\u3070\u308c\u308b\u9854\u8c8c\u3068\u306f\u7570\u306a\u308a\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u306b\u3082\u72ec\u81ea\u306e\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9f3b\u306e\u7279\u5fb4\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u7403\u72b6\u306e\u9f3b\u5148\uff08Bulbous nose\uff09\uff1a<\/strong> \u9f3b\u5148\u304c\u4e38\u304f\u3001\u56e3\u5b50\u9f3b\u306e\u3088\u3046\u306a\u5f62\u72b6\u3002<\/li>\n\n\n\n<li><strong>\u9ad8\u3044\u9f3b\u6881\uff08High nasal bridge\uff09\uff1a<\/strong> \u9f3b\u7b4b\u304c\u901a\u3063\u3066\u9ad8\u3044\u3002\u3053\u308c\u306f4p\u6b20\u5931\u306e\u300c\u5e83\u3044\u9f3b\u6881\u300d\u3068\u5bfe\u7167\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7709\u30fb\u76ee\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u592a\u304f\u6fc3\u3044\u7709\u6bdb\uff08Bushy eyebrows\uff09\uff1a<\/strong> \u5de6\u53f3\u304c\u3064\u306a\u304c\u3063\u3066\u3044\u308b\uff08\u9023\u7709\uff09\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6df1\u304f\u304f\u307c\u3093\u3060\u76ee\uff08Deep-set eyes\uff09\u3001\u773c\u77bc\u88c2\u659c\u4e0b\uff08\u30bf\u30ec\u76ee\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u53e3\u30fb\u984e\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u984e\u75c7\uff08\u3042\u3054\u304c\u5c0f\u3055\u3044\uff09\u3001\u5c16\u3063\u305f\u3042\u3054\u3002<\/li>\n\n\n\n<li>\u9577\u3044\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\uff09\u3001\u8584\u3044\u4e0a\u5507\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8033\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u4f4d\u4ed8\u7740\u8033\u3001\u8033\u4ecb\u306e\u5909\u5f62\u3001\u5927\u304d\u306a\u8033\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u982d\u90e8\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u6b63\u5e38\u7bc4\u56f2\u3042\u308b\u3044\u306f\u5927\u982d\u75c7\u306e\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u8eab\u4f53\u7684\u6210\u9577\u30fb\u4f53\u683c<\/strong><\/p>\n\n\n\n<p>\u3053\u3053\u304c4p\u6b20\u5931\uff08\u91cd\u5ea6\u306e\u4f4e\u8eab\u9577\uff09\u3068\u306e\u5927\u304d\u306a\u9055\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u51fa\u751f\u6642\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5728\u80ce\u9031\u6570\u306b\u5bfe\u3057\u3066\u6b63\u5e38\u3001\u3042\u308b\u3044\u306f\u5927\u304d\u3081\uff08\u904e\u6210\u9577\uff09\u3067\u751f\u307e\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u51fa\u751f\u5f8c\u306e\u6210\u9577\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u904e\u6210\u9577\u30fb\u80a5\u6e80\u50be\u5411\uff1a<\/strong> \u4e00\u90e8\u306e\u60a3\u8005\u3055\u3093\uff08\u7279\u306b4p16.3\u91cd\u8907\uff09\u3067\u306f\u3001\u8eab\u9577\u304c\u5e73\u5747\u3088\u308a\u9ad8\u304f\u3001\u4f53\u91cd\u304c\u5897\u3048\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u304c\u3063\u3057\u308a\u3068\u3057\u305f\u4f53\u683c\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3082\u3061\u308d\u3093\u3001\u91cd\u8907\u7bc4\u56f2\u304c\u5e83\u304f\u5408\u4f75\u75c7\u304c\u91cd\u3044\u5834\u5408\u306f\u3001\u6210\u9577\u969c\u5bb3\uff08\u4f4e\u8eab\u9577\uff09\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\u3067\u3001\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u9045\u308c\uff08Speech delay\uff09\u304c\u9855\u8457\u3067\u3001\u767a\u8a9e\u304c\u9650\u5b9a\u7684\u3067\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u975e\u8a00\u8a9e\u7684\u306a\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff08\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u306a\u3069\uff09\u306f\u6bd4\u8f03\u7684\u826f\u597d\u306b\u767a\u9054\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\u9045\u6ede\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u958b\u59cb\u306a\u3069\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u7570\u5e38\uff1a<\/strong> \u4e73\u5150\u671f\u306f\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u7b4b\u7dca\u5f35\u4ea2\u9032\uff08\u4f53\u304c\u786c\u304f\u306a\u308b\uff09\u3084\u75d9\u7e2e\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u56db\u80a2\u30fb\u9aa8\u683c\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<p>\u624b\u8db3\u306e\u7279\u5fb4\u306f\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5927\u304d\u306a\u624b\u8db3\uff1a<\/strong> \u5e74\u9f62\u306b\u6bd4\u3079\u3066\u624b\u8db3\u304c\u5927\u304d\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6307\u306e\u7570\u5e38\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5c48\u6307\u75c7\uff08Camptodactyly\uff09\uff1a<\/strong> \u6307\u304c\u66f2\u304c\u3063\u305f\u307e\u307e\u4f38\u3073\u306b\u304f\u3044\u3002<\/li>\n\n\n\n<li>\u77ed\u6307\u75c7\u3001\u7b2c5\u6307\u306e\u6e7e\u66f2\u3002<\/li>\n\n\n\n<li>\u7a00\u306b\u591a\u6307\u75c7\uff08\u6307\u304c\u591a\u3044\uff09\u3084\u5408\u6307\u75c7\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u722a\u306e\u7570\u5e38\uff1a<\/strong> \u722a\u306e\u4f4e\u5f62\u6210\u3084\u5909\u5f62\u3002<\/li>\n\n\n\n<li><strong>\u95a2\u7bc0\uff1a<\/strong> \u95a2\u7bc0\u62d8\u7e2e\uff08\u95a2\u7bc0\u304c\u56fa\u307e\u3063\u3066\u52d5\u304d\u306b\u304f\u3044\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e00\u90e8\u306e\u60a3\u8005\u3055\u3093\u3067\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u898b\u3089\u308c\u307e\u3059\u304c\u30014p\u6b20\u5931\u75c7\u5019\u7fa4\u307b\u3069\u9ad8\u983b\u5ea6\u30fb\u96e3\u6cbb\u6027\u3067\u306f\u306a\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5185\u81d3\u5947\u5f62\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069\uff09\u3001\u814e\u5947\u5f62\u3001\u505c\u7559\u7cbe\u5de3\uff08\u7537\u5150\uff09\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u5fc5\u9808\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u547c\u5438\u5668\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u65b0\u751f\u5150\u671f\u306b\u547c\u5438\u969c\u5bb3\u3084\u3001\u983b\u7e41\u306a\u547c\u5438\u5668\u611f\u67d3\u75c7\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>4\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff084p\uff09\u306b\u304a\u3051\u308b\u91cd\u8907<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f\u306e\u5206\u985e\uff08\u91cd\u8981\uff09<\/strong><\/p>\n\n\n\n<p>4p\u91cd\u8907\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u3001\u305d\u306e\u539f\u56e0\u304c\u300c\u89aa\u7531\u6765\u300d\u304b\u300c\u7a81\u7136\u5909\u7570\u300d\u304b\u3092\u77e5\u308b\u3053\u3068\u306f\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002\u306a\u305c\u306a\u3089\u3001\u89aa\u7531\u6765\u306e\u30b1\u30fc\u30b9\u304c\u6bd4\u8f03\u7684\u591a\u3044\u304b\u3089\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5bb6\u65cf\u6027\uff08\u89aa\u306e\u8ee2\u5ea7\u30fb\u9006\u4f4d\u7531\u6765\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u3055\u3093\u306e<strong>\u7d04\u534a\u6570\u4ee5\u4e0a<\/strong>\u306f\u3001\u89aa\u306e\u3069\u3061\u3089\u304b\u304c**\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d<strong>\uff08\u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\uff09\u3084<\/strong>\u300c\u9006\u4f4d\u300d**\u3092\u6301\u3063\u3066\u3044\u308b\u3053\u3068\u306b\u7531\u6765\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u81ea\u8eab\u306f\u907a\u4f1d\u5b50\u306e\u91cf\u306b\u5897\u6e1b\u304c\u306a\u3044\u305f\u3081\u5065\u5eb7\u3067\u3059\u304c\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u969b\u306b\u67d3\u8272\u4f53\u306e\u5206\u914d\u304c\u4e0d\u5747\u8861\u306b\u306a\u308a\uff08malsegregation\uff09\u3001\u5b50\u306b\u300c4p\u90e8\u5206\u306e\u91cd\u8907\uff08\u3068\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u4ed6\u306e\u67d3\u8272\u4f53\u306e\u6b20\u5931\uff09\u300d\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u8ee2\u5ea7\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u71364p\u9818\u57df\u304c\u91cd\u8907\u3057\u3066\u3057\u307e\u3046\u30b1\u30fc\u30b9\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u67d3\u8272\u4f53\u5185\u3067\u91cd\u8907\u304c\u8d77\u3053\u308b\uff08Tandem duplication\uff09\u5834\u5408\u306a\u3069\u304c\u3053\u308c\u306b\u5f53\u305f\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Gene Dosage Effect\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>4p16.3\u9818\u57df\u306b\u3042\u308b<em>NSD2 (WHSC1)<\/em> \u907a\u4f1d\u5b50\u306f\u3001\u6210\u9577\u3092\u4fc3\u9032\u3059\u308b\u50cd\u304d\u304c\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>WHS\uff08\u6b20\u5931\uff09\u3067\u306f\u3053\u306e\u907a\u4f1d\u5b50\u304c\u6e1b\u308b\u3053\u3068\u3067\u300c\u4f4e\u8eab\u9577\u300d\u306b\u306a\u308a\u307e\u3059\u304c\u3001\u672c\u75be\u60a3\uff08\u91cd\u8907\uff09\u3067\u306f\u5897\u3048\u308b\u3053\u3068\u3067\u300c\u904e\u6210\u9577\u300d\u3084\u300c\u9aa8\u6210\u719f\u306e\u4fc3\u9032\u300d\u304c\u8d77\u3053\u308b\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306b\u3001\u907a\u4f1d\u5b50\u306e\u91cf\u3068\u75c7\u72b6\u304c\u76f8\u95a2\u95a2\u4fc2\u306b\u3042\u308b\u3053\u3068\u306f\u3001\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u306b\u304a\u3044\u3066\u3082\u91cd\u8981\u306a\u8996\u70b9\u3067\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>\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08\u56e3\u5b50\u9f3b\u3001\u592a\u3044\u7709\uff09\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u300c\u5927\u304d\u306a\u624b\u8db3\u300d\u306a\u3069\u306e\u6240\u898b\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b**\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff08\u7b2c\u4e00\u9078\u629e\uff09**\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>4p\u9818\u57df\u306e\u91cd\u8907\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\uff08bp\u5358\u4f4d\uff09\u3068\u3001\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306b\u3088\u308a\u3001WHS\u9818\u57df\uff084p16.3\uff09\u3092\u542b\u3080\u304b\u3069\u3046\u304b\u304c\u5206\u304b\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>G\u30d0\u30f3\u30c9\u67d3\u8272\u4f53\u691c\u67fb\uff08\u6838\u578b\u5206\u6790\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>4p\u91cd\u8907\u306f\u6bd4\u8f03\u7684\u5927\u304d\u306a\u67d3\u8272\u4f53\u7570\u5e38\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u9855\u5fae\u93e1\u306b\u3088\u308b\u3053\u306e\u691c\u67fb\u3067\u3082\u8a3a\u65ad\u53ef\u80fd\u306a\u5834\u5408\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u8981:<\/strong> \u304a\u5b50\u3055\u3093\u306e\u8a3a\u65ad\u304c\u3064\u3044\u305f\u5834\u5408\u3001<strong>\u4e21\u89aa\u306eG\u30d0\u30f3\u30c9\u691c\u67fb<\/strong>\u304c\u5f37\u304f\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u89aa\u306e\u8ee2\u5ea7\uff08\u5bb6\u65cf\u6027\uff09\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u691c\u67fb\uff08MRI \/ \u30a8\u30b3\u30fc\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u3001\u5fc3\u81d3\u3001\u814e\u81d3\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>\u91cd\u8907\u3057\u305f\u67d3\u8272\u4f53\u3092\u5143\u306b\u623b\u3059\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u5408\u4f75\u75c7\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u6301\u3063\u3066\u3044\u308b\u80fd\u529b\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059**\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09**\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u5f8c\u3001\u65e9\u671f\u304b\u3089\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u306e\u7570\u5e38\uff08\u4f4e\u7dca\u5f35\u307e\u305f\u306f\u4ea2\u9032\uff09\u306b\u5bfe\u3057\u3001\u904b\u52d5\u767a\u9054\u3092\u4fc3\u3057\u3001\u95a2\u7bc0\u62d8\u7e2e\u3092\u4e88\u9632\u3059\u308b\u30ea\u30cf\u30d3\u30ea\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u5148\u306e\u5de7\u7dfb\u6027\uff08\u5668\u7528\u3055\uff09\u3092\u9ad8\u3081\u3001\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u306e\u81ea\u7acb\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002\u30b5\u30a4\u30f3\u3084\u7d75\u30ab\u30fc\u30c9\u306a\u3069\u306eAAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09\u3082\u6709\u52b9\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6559\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u5408\u308f\u305b\u3001\u7279\u5225\u652f\u63f4\u5b66\u6821\u3084\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u3001\u500b\u5225\u306b\u9069\u3057\u305f\u6559\u80b2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5408\u4f75\u75c7\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u85ac\u7269\u7642\u6cd5\u3084\u624b\u8853\u306b\u3088\u308b\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong> \u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u767a\u4f5c\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1:<\/strong> \u95a2\u7bc0\u62d8\u7e2e\u3084\u5074\u5f2f\u75c7\u304c\u3042\u308b\u5834\u5408\u3001\u88c5\u5177\u7642\u6cd5\u3084\u624b\u8853\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u547c\u5438\u5668:<\/strong> \u611f\u67d3\u75c7\u3092\u7e70\u308a\u8fd4\u3057\u3084\u3059\u3044\u5834\u5408\u3001\u547c\u5438\u7406\u5b66\u7642\u6cd5\u3084\u4e88\u9632\u63a5\u7a2e\u306e\u5fb9\u5e95\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5bb6\u65cf\u652f\u63f4\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u3082\u91cd\u8981\u306a\u30d7\u30ed\u30bb\u30b9\u306e\u4e00\u3064\u3067\u3059\u3002<\/strong><\/li>\n\n\n\n<li><strong>\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb:<\/strong> \u89aa\u304c\u8ee2\u5ea7\u4fdd\u56e0\u8005\u3067\u3042\u308b\u304b\u3069\u3046\u304b\u306e\u78ba\u8a8d\u306f\u3001\u6b21\u5b50\u306e\u5bb6\u65cf\u8a08\u753b\u306b\u304a\u3044\u3066\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u89aa\u65cf\u3078\u306e\u60c5\u5831\u63d0\u4f9b:<\/strong> \u89aa\u304c\u8ee2\u5ea7\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u89aa\u306e\u5144\u5f1f\u59c9\u59b9\u306a\u3069\u3082\u540c\u3058\u8ee2\u5ea7\u3092\u6301\u3063\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u5bb6\u7cfb\u56f3\u3092\u4f5c\u6210\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u89aa\u65cf\u3078\u306e\u691c\u67fb\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8:<\/strong> \u5e0c\u5c11\u75be\u60a3\u306e\u80b2\u5150\u306b\u5bfe\u3059\u308b\u4e0d\u5b89\u3084\u3001\u907a\u4f1d\u306b\u95a2\u3059\u308b\u60a9\u307f\u306b\u5bc4\u308a\u6dfb\u3046\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3044\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>4p duplication syndrome\uff084p\u91cd\u8907\u75c7\u5019\u7fa4\uff09\u306f\u30014\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u304a\u5b50\u3055\u3093\u306f\u3001\u751f\u307e\u308c\u305f\u6642\u304b\u3089\u4f53\u304c\u5c11\u3057\u5927\u304d\u3081\u3060\u3063\u305f\u308a\u3001\u304c\u3063\u3057\u308a\u3068\u3057\u305f\u4f53\u683c\u3092\u3057\u3066\u3044\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u9854\u7acb\u3061\u306b\u3082\u7279\u5fb4\u304c\u3042\u308a\u3001\u9f3b\u5148\u304c\u4e38\u304f\u611b\u5b0c\u306e\u3042\u308b\u9f3b\u3084\u3001\u30ad\u30ea\u30c3\u3068\u3057\u305f\u592a\u3044\u7709\u6bdb\u3092\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u3053\u308c\u306f\u30014\u756a\u67d3\u8272\u4f53\u304c\u6b20\u3051\u308b\u75c5\u6c17\uff08\u30a6\u30a9\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7\u5019\u7fa4\uff09\u306e\u304a\u5b50\u3055\u3093\u304c\u5c0f\u67c4\u3067\u83ef\u5962\u306a\u306e\u3068\u5bfe\u7167\u7684\u3067\u3042\u308a\u3001\u907a\u4f1d\u5b50\u306e\u4e0d\u601d\u8b70\u3055\u3092\u7269\u8a9e\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u306b\u3064\u3044\u3066\u306f\u3001\u8a00\u8449\u3084\u904b\u52d5\u306e\u9762\u3067\u3086\u3063\u304f\u308a\u3068\u3057\u305f\u30da\u30fc\u30b9\u3067\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u300c\u67d3\u8272\u4f53\u7570\u5e38\u300d\u3068\u3044\u3046\u8a3a\u65ad\u3084\u3001\u7279\u306b\u300c\u89aa\u304b\u3089\u306e\u907a\u4f1d\uff08\u8ee2\u5ea7\uff09\u304b\u3082\u3057\u308c\u306a\u3044\u300d\u3068\u3044\u3046\u8a71\u306f\u3001\u5927\u304d\u306a\u885d\u6483\u3068\u4e0d\u5b89\u3092\u3082\u305f\u3089\u3059\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u8ee2\u5ea7\u3092\u6301\u3063\u3066\u3044\u305f\u3068\u3057\u3066\u3082\u3001\u305d\u308c\u306f\u3054\u4e21\u89aa\u306e\u5065\u5eb7\u306b\u554f\u984c\u304c\u3042\u308b\u308f\u3051\u3067\u3082\u3001\u8ab0\u304b\u306e\u305b\u3044\u3067\u3082\u3042\u308a\u307e\u305b\u3093\u3002\u305f\u307e\u305f\u307e\u67d3\u8272\u4f53\u306e\u30d1\u30ba\u30eb\u304c\u5c11\u3057\u9055\u3063\u305f\u5f62\u3067\u7d44\u307f\u5408\u308f\u3055\u3063\u305f\u3060\u3051\u306a\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u5fc3\u81d3\u306e\u75c5\u6c17\u306a\u3069\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u73fe\u5728\u306e\u533b\u7642\u3067\u5341\u5206\u306b\u7ba1\u7406\u3067\u304d\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7642\u80b2\u3092\u901a\u3058\u3066\u3001\u6b69\u3051\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u308a\u3001\u8eab\u632f\u308a\u3067\u6c17\u6301\u3061\u3092\u4f1d\u3048\u3089\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u308a\u3068\u3001\u304a\u5b50\u3055\u3093\u306f\u305d\u306e\u5b50\u306a\u308a\u306e\u30da\u30fc\u30b9\u3067\u78ba\u5b9f\u306b\u6210\u9577\u3057\u3001\u8c4a\u304b\u306a\u611f\u60c5\u3092\u898b\u305b\u3066\u304f\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u5150\u79d1\u533b\u3001\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3001\u305d\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u500b\u6027\u3068\u6210\u9577\u3092\u6e29\u304b\u304f\u3001\u9577\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<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Zollino, M., et al.<\/strong> (1999). <em>Partial trisomy 4p: clinical and cytogenetic correlations.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b4p\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3068\u3001\u91cd\u8907\u9818\u57df\uff084p16.3\u3092\u542b\u3080\u304b\u3069\u3046\u304b\u7b49\uff09\u3068\u306e\u76f8\u95a2\u3092\u8a73\u7d30\u306b\u89e3\u6790\u3057\u305f\u57fa\u790e\u7684\u306a\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Partridge, J.C., et al.<\/strong> (2009). <em>Distinct craniofacial features of distal 4p duplication.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b4p\u672b\u7aef\u91cd\u8907\u306b\u7279\u6709\u306e\u9854\u8c8c\uff08\u7403\u72b6\u306e\u9f3b\u3001\u592a\u3044\u7709\u306a\u3069\uff09\u3092\u8a73\u7d30\u306b\u8a18\u8ff0\u3057\u30014p\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306e\u5bfe\u6bd4\u3092\u884c\u3063\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Hasi-Zogaj, M., et al.<\/strong> (2015). <em>The role of the NSD2 gene in the pathogenesis of 4p- syndrome and 4p duplication.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b4p16.3\u9818\u57df\u306b\u3042\u308bNSD2\u907a\u4f1d\u5b50\u306e\u91cf\u304c\u3001\u6210\u9577\uff08\u4f4e\u8eab\u9577\/\u904e\u6210\u9577\uff09\u3084\u9854\u8c8c\u5f62\u6210\u306b\u3069\u306e\u3088\u3046\u306b\u5f71\u97ff\u3059\u308b\u304b\u3001\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\u306e\u89b3\u70b9\u304b\u3089\u89e3\u6790\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>Duplications of 4p<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u767a\u9054\u306e\u76ee\u5b89\u3001\u5065\u5eb7\u7ba1\u7406\u306e\u30dd\u30a4\u30f3\u30c8\u3001\u8ee2\u5ea7\u306b\u95a2\u3059\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u91cd\u8981\u6027\u306a\u3069\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Gardner, R.J.M., &amp; Sutherland, G.R.<\/strong> (2011). <em>Chromosome Abnormalities and Genetic Counseling.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u67d3\u8272\u4f53\u8ee2\u5ea7\uff08\u5bb6\u65cf\u6027\uff09\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\u3084\u30e1\u30ab\u30cb\u30ba\u30e0\u306b\u3064\u3044\u3066\u306e\u5c02\u9580\u7684\u306a\u8a18\u8ff0\u304c\u542b\u307e\u308c\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u6559\u79d1\u66f8\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Patel, S.V., et al.<\/strong> (1995). <em>Trisomy 4p syndrome: a review.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u904e\u53bb\u306e\u75c7\u4f8b\u3092\u30ec\u30d3\u30e5\u30fc\u3057\u30014p\u30c8\u30ea\u30bd\u30df\u30fc\u306e\u5178\u578b\u7684\u306a\u81e8\u5e8a\u50cf\u3092\u307e\u3068\u3081\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-17065","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\/17065","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\/17065\/revisions"}],"predecessor-version":[{"id":17068,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17065\/revisions\/17068"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17065"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}