{"id":17037,"date":"2026-01-21T05:20:59","date_gmt":"2026-01-21T05:20:59","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17037"},"modified":"2026-01-21T05:22:46","modified_gmt":"2026-01-21T05:22:46","slug":"3pter-p25-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/3pter-p25-deletion-syndrome\/","title":{"rendered":"3pter-p25 deletion 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>3p-\u75c7\u5019\u7fa4\uff083p minus syndrome \/ 3p deletion syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u6700\u3082\u4e00\u822c\u7684\u306a\u547c\u79f0\u3067\u3059\u30023\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306e\u6b20\u5931\u3092\u7dcf\u79f0\u3059\u308b\u8a00\u8449\u3067\u3059\u304c\u3001\u305d\u306e\u5927\u90e8\u5206\u306f3pter-p25\u306e\u7bc4\u56f2\u3092\u542b\u307f\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>3p\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>\u9060\u4f4d3p\u6b20\u5931\u75c7\u5019\u7fa4\uff08Distal 3p deletion syndrome\uff09<\/li>\n\n\n\n<li>3pter-p25\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 3pter-p25\uff09<\/li>\n\n\n\n<li>3p25-pter\u6b20\u5931<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u30d5\u30a9\u30f3\u30fb\u30d2\u30c3\u30da\u30eb\u30fb\u30ea\u30f3\u30c9\u30a6\u75c5\uff08Von Hippel-Lindau disease; VHL\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u6b20\u5931\u9818\u57df\u306b<em>VHL<\/em>\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u308b\u5834\u5408\u3001\u3053\u306e\u75be\u60a3\u306b\u95a2\u9023\u3059\u308b\u816b\u760d\u30ea\u30b9\u30af\u306e\u7ba1\u7406\u304c\u5fc5\u8981\u3068\u306a\u308a\u307e\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>3\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff09\u672b\u7aef\uff08ter\uff09\u304b\u308925\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e3\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306e\u3001<strong>\u4e00\u756a\u7aef\u3063\u3053\uff08\u30c6\u30ed\u30e1\u30a2\u5074\uff1apter\uff09\u304b\u3089\u3001\u30d0\u30f3\u30c925\uff08p25\uff09\u307e\u3067\u306e\u9818\u57df<\/strong>\u304c\u9023\u7d9a\u3057\u3066\u6b20\u5931\u3057\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3011<\/p>\n\n\n\n<p>\u300c3pter-p25\u300d\u3068\u3044\u3046\u8868\u8a18\u306f\u30013\u756a\u67d3\u8272\u4f53\u306e\u5148\u7aef\u90e8\u5206\u304c\u3054\u3063\u305d\u308a\u3068\u5931\u308f\u308c\u3066\u3044\u308b\uff08Terminal deletion\uff1a\u672b\u7aef\u6b20\u5931\uff09\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u7bc4\u56f2\uff083p26\u301c3p25\uff09\u306f\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u304b\u3089\u5341\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\u306b\u53ca\u3076\u5e83\u7bc4\u306a\u9818\u57df\u3067\u3042\u308a\u3001\u3053\u3053\u306b\u306f\u8133\u306e\u767a\u9054\u3001\u5fc3\u81d3\u306e\u5f62\u6210\u3001\u7d30\u80de\u306e\u5897\u6b96\u5236\u5fa1\u306b\u95a2\u308f\u308b\u6570\u5341\u500b\u4ee5\u4e0a\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u304c\u307e\u3068\u3081\u3066\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u3001\u305d\u308c\u305e\u308c\u306e\u907a\u4f1d\u5b50\u6b20\u640d\u306b\u3088\u308b\u75c7\u72b6\u304c\u5408\u308f\u3055\u3063\u3066\u73fe\u308c\u308b**\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff08Contiguous gene syndrome\uff09\u300d**\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b20\u5931\u306e\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u300cp26\u3060\u3051\u6b20\u3051\u3066\u3044\u308b\uff08\u8efd\u75c7\u50be\u5411\uff09\u300d\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u300cp25\u307e\u3067\u5927\u304d\u304f\u6b20\u3051\u3066\u3044\u308b\uff08\u91cd\u75c7\u50be\u5411\uff09\u300d\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u672c\u9805\u3067\u306f\u3001p25\u3092\u542b\u3080\u53e4\u5178\u7684\u306a\u300c3p-\u75c7\u5019\u7fa4\u300d\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3011<\/strong><\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>CNTN4 (Contactin 4):<\/strong> 3p26\u306b\u4f4d\u7f6e\u3002\u795e\u7d4c\u56de\u8def\u306e\u5f62\u6210\u306b\u95a2\u308f\u308a\u3001\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u3084\u77e5\u7684\u969c\u5bb3\u306b\u95a2\u9023\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>CRBN (Cereblon):<\/strong> 3p26\u306b\u4f4d\u7f6e\u3002\u8efd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>CHL1 (Cell Adhesion Molecule L1 Like):<\/strong> 3p26\u306b\u4f4d\u7f6e\u3002\u8133\u306e\u767a\u9054\u3001\u7279\u306b\u8a8d\u77e5\u6a5f\u80fd\u3084\u8a00\u8a9e\u767a\u9054\u306b\u95a2\u4e0e\u3057\u3001\u6b20\u5931\u3059\u308b\u3068\u300c\u8a00\u8449\u306e\u9045\u308c\u300d\u306e\u8981\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>SETD5 \/ BRPF1:<\/strong> 3p25.3\u306b\u4f4d\u7f6e\u3002\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3001\u81ea\u9589\u75c7\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>VHL (Von Hippel-Lindau Tumor Suppressor):<\/strong> 3p25.3\u306b\u4f4d\u7f6e\u3002\u304c\u3093\u6291\u5236\u907a\u4f1d\u5b50\u3067\u3042\u308a\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306f\u5c06\u6765\u7684\u306a\u816b\u760d\u767a\u751f\u30ea\u30b9\u30af\u306b\u95a2\u308f\u308a\u307e\u3059\uff08\u5f8c\u8ff0\uff09\u3002<\/li>\n\n\n\n<li><strong>SRGAP3:<\/strong> 3p25\u306b\u4f4d\u7f6e\u3002\u91cd\u5ea6\u306e\u7cbe\u795e\u9045\u6ede\u3084\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u95a2\u4e0e\u3057\u307e\u3059\u3002<\/li>\n<\/ol>\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>\u5e83\u7fa9\u306e\u300c3p-\u75c7\u5019\u7fa4\u300d\u3068\u3057\u3066\u3001\u51fa\u751f50,000\u4eba\u301c100,000\u4eba\u306b1\u4eba\u7a0b\u5ea6\u306e\u983b\u5ea6\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u67d3\u8272\u4f53\u69cb\u9020\u7570\u5e38\u306e\u4e2d\u3067\u306f\u6bd4\u8f03\u7684\u5831\u544a\u4f8b\u304c\u591a\u3044\uff08\u4e16\u754c\u3067\u6570\u767e\u4f8b\u4ee5\u4e0a\uff09\u75be\u60a3\u306e\u4e00\u3064\u3067\u3059\u304c\u3001\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308b\u3053\u3068\u306b\u5909\u308f\u308a\u306f\u3042\u308a\u307e\u305b\u3093\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>3pter-p25 deletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u4f4e\u51fa\u751f\u4f53\u91cd\u30fb\u6210\u9577\u969c\u5bb3\u300d\u300c\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d**\u306e3\u3064\u304c\u4e2d\u6838\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u306e\u4f53\u91cd\u306e\u5897\u3048\u306b\u304f\u3055\u3068\u3001\u72ec\u7279\u306e\u300c\u5c11\u3057\u60b2\u3057\u3052\u306a\u304a\u9854\u7acb\u3061\uff08\u773c\u77bc\u4e0b\u5782\u306a\u3069\uff09\u300d\u304c\u8a3a\u65ad\u306e\u304d\u3063\u304b\u3051\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6210\u9577\u30fb\u6804\u990a\uff08Failure to Thrive\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b50\u5bae\u5185\u767a\u80b2\u9045\u5ef6\uff08IUGR\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u8d64\u3061\u3083\u3093\u306f\u5728\u80ce\u9031\u6570\u306b\u6bd4\u3079\u3066\u5c0f\u3055\u304f\u751f\u307e\u308c\u307e\u3059\uff08\u4f4e\u51fa\u751f\u4f53\u91cd\u5150\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u51fa\u751f\u5f8c\u306e\u6210\u9577\u969c\u5bb3\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u751f\u5f8c\u3082\u4f53\u91cd\u3068\u8eab\u9577\u306e\u4f38\u3073\u304c\u7de9\u3084\u304b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u54fa\u4e73\u56f0\u96e3:<\/strong> \u7b4b\u529b\u304c\u5f31\u304f\u3001\u304a\u3063\u3071\u3044\u3084\u30df\u30eb\u30af\u3092\u5438\u3046\u529b\u304c\u5f31\u3044\u3053\u3068\u304c\u539f\u56e0\u306e\u4e00\u3064\u3067\u3059\u3002\u80c3\u98df\u9053\u9006\u6d41\u75c7\uff08GERD\uff09\u3092\u5408\u4f75\u3057\u3001\u5410\u304d\u623b\u3057\u3084\u3059\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u304c<strong>\u4f4e\u8eab\u9577<\/strong>\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u982d\u56f2\u304c\u5c0f\u3055\u304f\u3001\u5c0f\u9854\u306e\u5370\u8c61\u3092\u4e0e\u3048\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>3p-\u75c7\u5019\u7fa4\u306b\u306f\u3001\u975e\u5e38\u306b\u7279\u5fb4\u7684\u3067\u5171\u901a\u3057\u305f\u304a\u9854\u7acb\u3061\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u77bc\u4e0b\u5782\uff08Ptosis\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u3082\u4ee3\u8868\u7684\u306a\u7279\u5fb4<\/strong>\u3067\u3059\u3002\u307e\u3076\u305f\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\u305f\u3081\u3001\u7720\u305f\u305d\u3046\u306b\u898b\u3048\u305f\u308a\u3001\u984e\u3092\u4e0a\u3052\u3066\u7269\u3092\u898b\u3088\u3046\u3068\u3057\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u306e\u7279\u5fb4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3001\u5185\u773c\u89d2\u8d05\u76ae\uff08\u76ee\u982d\u306e\u3072\u3060\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9f3b\u30fb\u53e3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9f3b\u304c\u77ed\u304f\u3001\u9f3b\u6839\u90e8\u304c\u4f4e\u3044\u3002<\/li>\n\n\n\n<li>\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\uff09\u304c\u9577\u3044\u3002<\/li>\n\n\n\n<li><strong>\u53e3\u89d2\u4e0b\u5236:<\/strong> \u53e3\u306e\u7aef\uff08\u53e3\u89d2\uff09\u304c\u4e0b\u304c\u3063\u3066\u304a\u308a\u3001\u3078\u306e\u5b57\u53e3\u306b\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5c0f\u984e\u75c7\uff08\u3042\u3054\u304c\u5c0f\u3055\u3044\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8033:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\uff08\u4f4e\u4f4d\u4ed8\u7740\u8033\uff09\u3001\u8033\u4ecb\u306e\u5f62\u304c\u5358\u7d14\u5316\u3057\u3066\u3044\u308b\u3001\u3042\u308b\u3044\u306f\u5f8c\u65b9\u306b\u56de\u8ee2\u3057\u3066\u3044\u308b\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7709\u6bdb\u304c\u3064\u306a\u304c\u3063\u3066\u3044\u308b\uff08Synophrys\uff09\u3001\u984d\u304c\u56db\u89d2\u3044\u5370\u8c61\u306a\u3069\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>\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001\u6b20\u5931\u7bc4\u56f2\u304c3p26\u672b\u7aef\u306e\u307f\u306b\u9650\u5c40\u3057\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u8efd\u5ea6\u301c\u5883\u754c\u57df\u3067\u3042\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u7406\u89e3\u30fb\u8868\u51fa\u3068\u3082\u306b\u5927\u304d\u304f\u9045\u308c\u307e\u3059\u3002\u6709\u610f\u5473\u8a9e\u306e\u7372\u5f97\u304c\u9045\u3044\u3001\u3042\u308b\u3044\u306f\u767a\u8a9e\u304c\u306a\u3044\uff08Non-verbal\uff09\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09\uff1a<\/strong> \u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u958b\u59cb\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\uff1a<\/strong> \u793e\u4f1a\u7684\u306a\u95a2\u308f\u308a\u306e\u82e6\u624b\u3055\u3001\u3053\u3060\u308f\u308a\u3001\u5e38\u540c\u884c\u52d5\u306a\u3069\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u591a\u52d5\u3001\u6ce8\u610f\u6563\u6f2b\u3001\u5f37\u8feb\u7684\u884c\u52d5\u306a\u3069\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5408\u4f75\u75c7\uff08\u5185\u81d3\u30fb\u611f\u899a\u5668\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3\uff08\u7d0430\u301c40%\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09\u3001\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u3001\u623f\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08AVSD\uff09\u306a\u3069\u306e\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u814e\u30fb\u6ccc\u5c3f\u5668\u7cfb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6c34\u814e\u75c7\u3001\u591a\u56a2\u80de\u814e\u3001\u505c\u7559\u7cbe\u5de3\uff08\u7537\u5150\uff09\u3001\u5c3f\u9053\u4e0b\u88c2\u306a\u3069\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8074\u899a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u611f\u97f3\u6027\u96e3\u8074\u307e\u305f\u306f\u4f1d\u97f3\u6027\u96e3\u8074\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08\u7d0420\u301c30%\uff09\u3002\u8a00\u8a9e\u767a\u9054\u306e\u305f\u3081\u306b\u65e9\u671f\u767a\u898b\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6d88\u5316\u5668:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f37\u3044\u4fbf\u79d8\u3001\u8178\u56de\u8ee2\u7570\u5e38\u75c7\u306a\u3069\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u591a\u6307\u75c7\uff08Polydactyly\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u8db3\u306e\u6307\u304c\u591a\u3044\uff08\u7279\u306b\u5c0f\u6307\u5074\u306e\u904e\u5270\u6307\uff09\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u9577\u671f\u7684\u306a\u30ea\u30b9\u30af\uff1aVHL\u75c5\uff08\u91cd\u8981\uff09<\/strong><\/p>\n\n\n\n<p>\u6b20\u5931\u7bc4\u56f2\u304cp25.3\u306b\u53ca\u3073\u3001<strong>VHL\u907a\u4f1d\u5b50<\/strong>\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u5834\u5408\u3001**\u30d5\u30a9\u30f3\u30fb\u30d2\u30c3\u30da\u30eb\u30fb\u30ea\u30f3\u30c9\u30a6\u75c5\uff08VHL\u75c5\uff09**\u306b\u95a2\u9023\u3059\u308b\u816b\u760d\u30ea\u30b9\u30af\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30ea\u30b9\u30af:<\/strong> \u5c0f\u8133\u3084\u7db2\u819c\u306e\u8840\u7ba1\u82bd\u816b\u3001\u814e\u7d30\u80de\u304c\u3093\u3001\u8910\u8272\u7d30\u80de\u816b\u306a\u3069\u3002<\/li>\n\n\n\n<li>\u3059\u3079\u3066\u306e\u60a3\u8005\u3055\u3093\u304c\u767a\u75c7\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\u3060\u3051\u3067\u306f\u767a\u75c7\u305b\u305a\u3001\u6b8b\u3063\u305f\u3082\u3046\u7247\u65b9\u306e\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u5165\u308b\u3068\u767a\u75c7\u3059\u308bTwo-hit\u30e1\u30ab\u30cb\u30ba\u30e0\uff09\u3001\u901a\u5e38\u306e\u4eba\u3088\u308a\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u72b6\u614b\uff08\u4fdd\u56e0\u8005\u72b6\u614b\uff09\u3068\u306a\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>3\u756a\u67d3\u8272\u4f53\u77ed\u8155\u672b\u7aef\uff083pter-p25\uff09\u306b\u304a\u3051\u308b\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>3pter-p25\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u591a\u304f\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u3053\u306e\u5834\u5408\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4f4e\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u89aa\u306e\u8ee2\u5ea7\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u304c\u91cf\u306f\u6b63\u5e38\uff09\u300d\u3084\u300c\u9006\u4f4d\u300d\u306a\u3069\u306e\u69cb\u9020\u7570\u5e38\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u89aa\u306f\u5065\u5eb7\u3067\u3059\u304c\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u969b\u306b\u67d3\u8272\u4f53\u306e\u4e0d\u5747\u8861\u304c\u751f\u3058\u3001\u5b50\u306b\u6b20\u5931\uff08\u90e8\u5206\u30e2\u30ce\u30bd\u30df\u30fc\uff09\u3084\u91cd\u8907\uff08\u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc\uff09\u3068\u3057\u3066\u907a\u4f1d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u304c\u91cd\u8981\u306b\u306a\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>\u67d3\u8272\u4f53\u306e\u5148\u7aef\u304c\u306a\u304f\u306a\u308b\u3053\u3068\u3067\u3001<em>CNTN4<\/em>\u3001<em>CHL1<\/em>\u3001<em>SETD5<\/em>\u3001<em>VHL<\/em>\u3068\u3044\u3063\u305f\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u7247\u89aa\u5206\u3057\u304b\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4f5c\u3089\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u534a\u5206\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u8133\u306e\u914d\u7dda\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u304b\u3063\u305f\u308a\u3001\u4f53\u306e\u5f62\u6210\u306b\u652f\u969c\u304c\u51fa\u305f\u308a\u3057\u307e\u3059\u3002\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u3044\u307b\u3069\uff08p25\u306e\u6df1\u90e8\u307e\u3067\u53ca\u3076\u307b\u3069\uff09\u3001\u5931\u308f\u308c\u308b\u907a\u4f1d\u5b50\u304c\u5897\u3048\u3001\u75c7\u72b6\u304c\u91cd\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\uff08\u91cd\u75c7\u5ea6\u76f8\u95a2\uff09\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\u6210\u9577\u969c\u5bb3\u300d\u300c\u773c\u77bc\u4e0b\u5782\u306a\u3069\u306e\u7279\u5fb4\u7684\u9854\u8c8c\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u306e3\u5fb4\u5019\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>3\u756a\u67d3\u8272\u4f53\u672b\u7aef\u306e\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u7bc4\u56f2\uff08\u3069\u3053\u304b\u3089\u3069\u3053\u307e\u3067\u6b20\u3051\u3066\u3044\u308b\u304b\uff09\u3068\u3001<strong>VHL\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b<\/strong>\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f93\u6765\u306eG\u30d0\u30f3\u30c9\u691c\u67fb\uff08\u9855\u5fae\u93e1\u691c\u67fb\uff09\u3067\u3082\u3001\u6b20\u5931\u304c\u5927\u304d\u3044\u5834\u5408\u306f\u767a\u898b\u3067\u304d\u307e\u3059\u304c\u3001\u5fae\u7d30\u306a\u6b20\u5931\u3084\u6b63\u78ba\u306a\u907a\u4f1d\u5b50\u60c5\u5831\u306e\u628a\u63e1\u306b\u306fCMA\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9 \/ FISH\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u304a\u5b50\u3055\u3093\u306e\u8a3a\u65ad\u5f8c\u3001\u305d\u306e\u539f\u56e0\u304c\u300c\u7a81\u7136\u5909\u7570\u300d\u306a\u306e\u304b\u300c\u89aa\u306e\u8ee2\u5ea7\u7531\u6765\u300d\u306a\u306e\u304b\u3092\u8abf\u3079\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u6b21\u5b50\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\u306b\u4e0d\u53ef\u6b20\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\u306e\u69cb\u9020\uff08\u8133\u6881\u6b20\u640d\u306a\u3069\uff09\u3001\u5fc3\u81d3\u3001\u814e\u81d3\u306e\u5947\u5f62\u304c\u306a\u3044\u304b\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>\u6b20\u5931\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\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3001\u80fd\u529b\u3092\u4f38\u3070\u3059\u7642\u80b2\u3001\u305d\u3057\u3066\u5408\u4f75\u75c7\u306e**\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff08\u5b9a\u671f\u691c\u67fb\uff09**\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u533b\u5b66\u7684\u7ba1\u7406\u30fb\u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u77bc\u4e0b\u5782\u306e\u624b\u8853:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u307e\u3076\u305f\u304c\u4e0b\u304c\u3063\u3066\u77b3\u5b54\u3092\u8986\u3063\u3066\u3057\u307e\u3046\u3068\u3001\u8996\u529b\u306e\u767a\u9054\u304c\u59a8\u3052\u3089\u308c\u300c\u5f31\u8996\u300d\u306b\u306a\u308b\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8996\u754c\u3092\u78ba\u4fdd\u3059\u308b\u305f\u3081\u306b\u3001\u5f62\u6210\u5916\u79d1\u3084\u773c\u79d1\u3067\u307e\u3076\u305f\u3092\u6301\u3061\u4e0a\u3052\u308b\u624b\u8853\u3092\u884c\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3\u30fb\u591a\u6307\u75c7:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u96e3\u8074:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u88dc\u8074\u5668\u306e\u4f7f\u7528\u3084\u3001\u74b0\u5883\u8abf\u6574\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6804\u990a\u30fb\u6210\u9577\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6804\u990a\u6442\u53d6:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u54fa\u4e73\u56f0\u96e3\u3084\u4f53\u91cd\u5897\u52a0\u4e0d\u826f\u306b\u5bfe\u3057\u3001\u9ad8\u30ab\u30ed\u30ea\u30fc\u30df\u30eb\u30af\u306e\u4f7f\u7528\u3084\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u7d4c\u7ba1\u6804\u990a\uff08\u9f3b\u30c1\u30e5\u30fc\u30d6\u3084\u80c3\u308d\u3046\uff09\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3044\u3001\u8133\u3068\u4f53\u306e\u6210\u9577\u3092\u652f\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u80c3\u98df\u9053\u9006\u6d41\u75c7\u306e\u6cbb\u7642\u3082\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \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\u3067\u304d\u308b\u3060\u3051\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>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u304c\u9855\u8457\u306a\u5834\u5408\u3001\u30b5\u30a4\u30f3\u3001\u7d75\u30ab\u30fc\u30c9\uff08PECS\uff09\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u306a\u3069\u306e**AAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09**\u3092\u5c0e\u5165\u3057\u3001\u610f\u601d\u4f1d\u9054\u306e\u624b\u6bb5\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6559\u80b2\u7684\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7279\u5225\u652f\u63f4\u5b66\u6821\u3084\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u3001\u500b\u3005\u306e\u767a\u9054\u6bb5\u968e\u306b\u5408\u308f\u305b\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>4. VHL\u95a2\u9023\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff08\u91cd\u8981\uff09<\/strong><\/p>\n\n\n\n<p><em>VHL<\/em>\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u7bc4\u56f2\u306b\u542b\u307e\u308c\u3066\u3044\u308b\u5834\u5408\u3001\u75c7\u72b6\u304c\u306a\u304f\u3066\u3082\u4ee5\u4e0b\u306e\u5b9a\u671f\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\uff08VHL\u75c5\u306e\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u306b\u6e96\u62e0\uff09\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1\u691c\u67fb:<\/strong> \u7db2\u819c\u8840\u7ba1\u82bd\u816b\u306e\u30c1\u30a7\u30c3\u30af\uff08\u5e7c\u5150\u671f\u304b\u3089\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8179\u90e8\u8d85\u97f3\u6ce2\/MRI:<\/strong> \u814e\u81d3\u3084\u526f\u814e\u306e\u816b\u760d\u30c1\u30a7\u30c3\u30af\uff08\u5c0f\u5150\u671f\u301c\u6210\u4eba\u671f\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8840\u5727\u6e2c\u5b9a:<\/strong> \u8910\u8272\u7d30\u80de\u816b\u306e\u5146\u5019\u30c1\u30a7\u30c3\u30af\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u3089\u306f\u300c\u304c\u3093\u306e\u65e9\u671f\u767a\u898b\u30fb\u65e9\u671f\u6cbb\u7642\u300d\u3092\u53ef\u80fd\u306b\u3057\u3001\u751f\u547d\u4e88\u5f8c\u3092\u5927\u304d\u304f\u6539\u5584\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u8ee2\u5ea7\u4fdd\u56e0\u8005\u3067\u3042\u308b\u304b\u3069\u3046\u304b\u306e\u78ba\u8a8d\u3068\u3001\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\u306e\u8aac\u660e\u3002<\/li>\n\n\n\n<li>\u9577\u671f\u7684\u306a\u898b\u901a\u3057\u3084\u3001\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u914d\u616e\u306b\u3064\u3044\u3066\u306e\u76f8\u8ac7\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>3pter-p25 deletion syndrome\uff083p-\u75c7\u5019\u7fa4\uff09\u306f\u30013\u756a\u67d3\u8272\u4f53\u306e\u5148\u7aef\u90e8\u5206\u304c\u6b20\u3051\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\u5c0f\u3055\u3081\u3067\u3001\u30df\u30eb\u30af\u3092\u98f2\u3080\u306e\u304c\u82e6\u624b\u3060\u3063\u305f\u308a\u3001\u6210\u9577\u304c\u3086\u3063\u304f\u308a\u3060\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u307e\u3076\u305f\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\uff08\u773c\u77bc\u4e0b\u5782\uff09\u305f\u3081\u3001\u7720\u305f\u305d\u3046\u306b\u898b\u3048\u308b\u611b\u3089\u3057\u3044\u304a\u9854\u7acb\u3061\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u5408\u4f75\u75c7\u306f\u5927\u304d\u306a\u5fc3\u914d\u4e8b\u304b\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u773c\u77bc\u4e0b\u5782\u306f\u624b\u8853\u3067\u6539\u5584\u3067\u304d\u307e\u3059\u3057\u3001\u5fc3\u81d3\u306e\u75c5\u6c17\u306a\u3069\u3082\u9069\u5207\u306a\u533b\u7642\u3067\u7ba1\u7406\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u91cd\u8981\u306a\u306e\u306f\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u3063\u3066\u300cVHL\u907a\u4f1d\u5b50\u300d\u304c\u6b20\u5931\u306b\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3067\u3059\u3002\u3082\u3057\u542b\u307e\u308c\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u5b9a\u671f\u7684\u306a\u691c\u8a3a\uff08\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff09\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u5c06\u6765\u306e\u75c5\u6c17\u306e\u30ea\u30b9\u30af\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u3001\u5065\u5eb7\u3092\u5b88\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u306b\u95a2\u3057\u3066\u306f\u3001\u3086\u3063\u304f\u308a\u3067\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u7642\u80b2\u3092\u901a\u3058\u3066\u5ea7\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u308a\u3001\u30b5\u30a4\u30f3\u3067\u6c17\u6301\u3061\u3092\u4f1d\u3048\u3089\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u308a\u3068\u3001\u305d\u306e\u5b50\u306a\u308a\u306e\u30da\u30fc\u30b9\u3067\u78ba\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u660e\u308b\u304f\u4eba\u61d0\u3063\u3053\u3044\u6027\u683c\u306e\u304a\u5b50\u3055\u3093\u3082\u591a\u304f\u3001\u5bb6\u65cf\u306e\u304b\u3051\u304c\u3048\u306e\u306a\u3044\u5b58\u5728\u3068\u3057\u3066\u8f1d\u3044\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u5150\u79d1\u533b\u3001\u5f62\u6210\u5916\u79d1\u533b\u3001\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u500b\u6027\u8c4a\u304b\u306a\u6210\u9577\u3092\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>Cuoco, C., et al.<\/strong> (2011). <em>Distal 3p deletion syndrome: A detailed clinical and molecular characterization of five new cases and review of the literature.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b3p\u6b20\u5931\u75c7\u5019\u7fa4\u306e5\u3064\u306e\u65b0\u898f\u75c7\u4f8b\u3092\u8a73\u7d30\u306b\u89e3\u6790\u3057\u3001\u6b20\u5931\u7bc4\u56f2\u3068\u81e8\u5e8a\u75c7\u72b6\uff08\u773c\u77bc\u4e0b\u5782\u3001\u5fc3\u75be\u60a3\u306a\u3069\uff09\u306e\u95a2\u9023\u3092\u307e\u3068\u3081\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Shuib, S., et al.<\/strong> (2009). <em>3p- syndrome: a review of the literature and clinical presentation of a patient with a 3p deletion.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b3p-\u75c7\u5019\u7fa4\u306e\u5178\u578b\u7684\u306a\u75c7\u72b6\u3068\u3001\u904e\u53bb\u306e\u6587\u732e\u3092\u7db2\u7f85\u7684\u306b\u30ec\u30d3\u30e5\u30fc\u3057\u305f\u57fa\u790e\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Gunn, S.R., et al.<\/strong> (2003). <em>Terminal deletions of the short arm of chromosome 3: genotype-phenotype correlations.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b3p\u672b\u7aef\u6b20\u5931\u306e\u30b5\u30a4\u30ba\u3068\u91cd\u75c7\u5ea6\u306e\u76f8\u95a2\uff08Genotype-Phenotype Correlation\uff09\u3092\u89e3\u6790\u3057\u3001p25\u9818\u57df\u306e\u91cd\u8981\u6027\u3092\u793a\u5506\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Kellogg, G., et al.<\/strong> (2013). <em>Distinct phenotypes associated with deletions of 3p25.3 versus 3p26.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b3p26\uff08\u672b\u7aef\u306e\u307f\uff09\u306e\u6b20\u5931\u3068\u30013p25.3\uff08\u4e2d\u9593\u90e8\u542b\u3080\uff09\u306e\u6b20\u5931\u306b\u3088\u308b\u75c7\u72b6\u306e\u9055\u3044\uff08SETD5\u3084BRPF1\u306e\u5f71\u97ff\u306a\u3069\uff09\u3092\u6bd4\u8f03\u691c\u8a0e\u3057\u305f\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>3p deletions<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u6210\u9577\u306e\u76ee\u5b89\u3001\u5408\u4f75\u75c7\u3078\u306e\u5bfe\u5fdc\u3001\u7642\u80b2\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u306a\u3069\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u5305\u62ec\u7684\u306a\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Von Hippel-Lindau Syndrome<\/em>. (For VHL gene surveillance protocols).\n<ul class=\"wp-block-list\">\n<li>(\u203bVHL\u907a\u4f1d\u5b50\u6b20\u5931\u304c\u542b\u307e\u308c\u308b\u5834\u5408\u306e\u3001\u5177\u4f53\u7684\u306a\u691c\u8a3a\u30b9\u30b1\u30b8\u30e5\u30fc\u30eb\u3084\u7ba1\u7406\u65b9\u6cd5\u306e\u53c2\u7167\u5143\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-17037","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\/17037","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":5,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17037\/revisions"}],"predecessor-version":[{"id":17042,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17037\/revisions\/17042"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17037"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}