{"id":16722,"date":"2026-01-20T00:53:44","date_gmt":"2026-01-20T00:53:44","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16722"},"modified":"2026-01-20T05:51:14","modified_gmt":"2026-01-20T05:51:14","slug":"17p13-1-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/17p13-1-deletion-syndrome\/","title":{"rendered":"17p13.1 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>17p13.1\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>17p13.1\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff0816p13.1 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>17p13.1\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 17p13.1\uff09<\/li>\n\n\n\n<li>TP53\u95a2\u9023\u67d3\u8272\u4f53\u6b20\u5931\uff08TP53-related chromosomal deletion\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u30ea\u30fb\u30d5\u30e9\u30a6\u30e1\u30cb\u75c7\u5019\u7fa4\uff08Li-Fraumeni syndrome; LFS\uff09\u69d8\u72b6\u614b\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75be\u60a3\u3067\u6b20\u5931\u3059\u308b\u9818\u57df\u306b\u306f\u3001\u30ea\u30fb\u30d5\u30e9\u30a6\u30e1\u30cb\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308b<em>TP53<\/em>\u304c\u542b\u307e\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u81e8\u5e8a\u7684\u306b\u95a2\u9023\u304c\u6df1\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>17\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0913.1\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e17\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306e\u672b\u7aef\u306b\u8fd1\u3044\u300c13.1\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\uff08\u30b3\u30d4\u30fc\u6570\u304c1\u3064\u306b\u306a\u308b\uff1a\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u9818\u57df\u306e\u907a\u4f1d\u5b66\u7684\u8a73\u7d30\u3068\u91cd\u8981\u6027\u3011<\/p>\n\n\n\n<p>17\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff0817p\uff09\u306b\u306f\u3001\u533b\u5b66\u7684\u306b\u6709\u540d\u306a\u75be\u60a3\u306b\u95a2\u308f\u308b\u9818\u57df\u304c\u5bc6\u96c6\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4f8b\u3048\u3070\u3001\u3055\u3089\u306b\u672b\u7aef\u5074\u306e\u300c17p13.3\u300d\u306e\u6b20\u5931\u306f\u300c\u30df\u30e9\u30fc\u30fb\u30c7\u30a3\u30fc\u30ab\u30fc\u75c7\u5019\u7fa4\uff08\u6ed1\u8133\u75c7\uff09\u300d\u3092\u3001\u4e2d\u5fc3\u5bc4\u308a\u306e\u300c17p11.2\u300d\u306e\u6b20\u5931\u306f\u300c\u30b9\u30df\u30b9\u30fb\u30de\u30ae\u30cb\u30b9\u75c7\u5019\u7fa4\u300d\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4eca\u56de\u89e3\u8aac\u3059\u308b\u300c17p13.1\u300d\u306f\u3001\u305d\u308c\u3089\u306e\u4e2d\u9593\u306b\u4f4d\u7f6e\u3059\u308b\u9818\u57df\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>\u6b20\u5931\u306e\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\uff08\u7d04200kb\u301c\u6570Mb\uff09\u304c\u3001\u75c7\u72b6\u5f62\u6210\u306b\u304a\u3044\u3066\u7279\u306b\u91cd\u8981\u8996\u3055\u308c\u3066\u3044\u308b\u306e\u304c\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>TP53 (Tumor Protein p53):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u300c\u30b2\u30ce\u30e0\u306e\u5b88\u8b77\u795e\u300d\u3068\u3082\u547c\u3070\u308c\u308b\u3001\u4eba\u4f53\u3067\u6700\u3082\u91cd\u8981\u306a\u304c\u3093\u6291\u5236\u907a\u4f1d\u5b50<\/strong>\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li>DNA\u304c\u50b7\u3064\u3044\u305f\u7d30\u80de\u3092\u4fee\u5fa9\u3057\u305f\u308a\u3001\u4fee\u5fa9\u4e0d\u53ef\u80fd\u306a\u7d30\u80de\u3092\u81ea\u6b7b\uff08\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\uff09\u3055\u305b\u305f\u308a\u3057\u3066\u3001\u304c\u3093\u5316\u3092\u9632\u3050\u5f79\u5272\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u306b\u542b\u307e\u308c\u308b\u5834\u5408\u3001\u751f\u6daf\u306b\u308f\u305f\u3063\u3066\u69d8\u3005\u306a\u816b\u760d\u304c\u767a\u751f\u3059\u308b\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308b\u305f\u3081\u3001\u672c\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308b<strong>\u6700\u91cd\u8981\u7ba1\u7406\u9805\u76ee<\/strong>\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>DLG4 (Discs Large MAGUK Scaffold Protein 4):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u30b7\u30ca\u30d7\u30b9\uff08\u795e\u7d4c\u7d30\u80de\u540c\u58eb\u306e\u3064\u306a\u304e\u76ee\uff09\u306e\u5f62\u6210\u3084\u6a5f\u80fd\u306b\u4e0d\u53ef\u6b20\u306a\u30bf\u30f3\u30d1\u30af\u8cea\uff08PSD-95\uff09\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306f\u3001\u672c\u75c7\u5019\u7fa4\u306b\u898b\u3089\u308c\u308b<strong>\u77e5\u7684\u969c\u5bb3<\/strong>\u3084<strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/strong>\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306a\u3069\u306e\u795e\u7d4c\u767a\u9054\u75c7\u72b6\u306e\u4e3b\u8981\u306a\u539f\u56e0\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>KIF1B \/ TRAP1 \/ GPS2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u3082\u795e\u7d4c\u6a5f\u80fd\u3084\u4ee3\u8b1d\u306b\u95a2\u4e0e\u3057\u3066\u304a\u308a\u3001\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u8907\u5408\u7684\u306a\u75c7\u72b6\u306b\u5bc4\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/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>\u975e\u5e38\u306b\u7a00\uff08Rare\uff09<\/strong><\/p>\n\n\n\n<p>17p13.1\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\uff08Rare Chromosome Disorder\uff09\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u75ab\u5b66\u7684\u306a\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u3067\u306e\u5831\u544a\u306f\u6570\u5341\u4f8b\u301c\u767e\u4f8b\u7a0b\u5ea6\u306e\u898f\u6a21\u3067\u3042\u308a\u3001\u4e00\u822c\u7684\u306a\u67d3\u8272\u4f53\u691c\u67fb\u3067\u306f\u898b\u3064\u304b\u308a\u306b\u304f\u3044\u5fae\u7d30\u6b20\u5931\u3067\u3042\u308b\u3053\u3068\u304b\u3089\u3001\u672a\u8a3a\u65ad\u306e\u4f8b\u3082\u5b58\u5728\u3059\u308b\u3068\u8003\u3048\u3089\u308c\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>17p13.1\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u3001\u5927\u304d\u304f\u5206\u3051\u3066\u300c\u795e\u7d4c\u767a\u9054\u30fb\u8eab\u4f53\u7684\u7279\u5fb4\u300d\u3068\u3001\u300c\u816b\u760d\u767a\u751f\u30ea\u30b9\u30af\u300d\u306e2\u3064\u306e\u5074\u9762\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u816b\u760d\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u306f\u3001\u81ea\u899a\u75c7\u72b6\u304c\u51fa\u308b\u524d\u304b\u3089\u306e\u7ba1\u7406\u304c\u5fc5\u8981\u3068\u306a\u308b\u305f\u3081\u3001\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u3066\u306e\u60a3\u8005\u3055\u3093\u306b\u304a\u3044\u3066\u3001\u4e73\u5e7c\u5150\u671f\u304b\u3089\u767a\u9054\u306e\u9045\u308c\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u4e3b\u306b<em>DLG4<\/em>\u907a\u4f1d\u5b50\u306a\u3069\u306e\u795e\u7d4c\u95a2\u9023\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/strong> \u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5168\u822c\u7684\u306a\u767a\u9054\u9045\u6ede\uff08GDD\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u904b\u52d5:<\/strong> \u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u958b\u59cb\u306a\u3069\u306e\u904b\u52d5\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u9045\u308c\u307e\u3059\u3002\u6b69\u884c\u7372\u5f97\u304c\u6570\u6b73\u9045\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e:<\/strong> \u8a00\u8449\u306e\u7406\u89e3\u30fb\u8868\u51fa\u3068\u3082\u306b\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u91cd\u5ea6\u306e\u5834\u5408\u306f\u767a\u8a9e\u304c\u898b\u3089\u308c\u306a\u3044\uff08Non-verbal\uff09\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09:<\/strong> \u4e73\u5e7c\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u62b1\u304d\u306b\u304f\u3044\u3001\u54fa\u4e73\u529b\u304c\u5f31\u3044\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027:<\/strong> \u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u306e\u7279\u6027\uff08\u793e\u4f1a\u7684\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u56f0\u96e3\u3001\u3053\u3060\u308f\u308a\uff09\u3001\u591a\u52d5\u3001\u4e0d\u5b89\u3001\u7761\u7720\u969c\u5bb3\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u9854\u8c8c<\/strong><\/p>\n\n\n\n<p>\u300c\u3053\u306e\u75c5\u6c17\u7279\u6709\u300d\u3068\u3044\u3046\u307b\u3069\u6c7a\u5b9a\u7684\u306a\u9854\u3064\u304d\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u3044\u304f\u3064\u304b\u306e\u5171\u901a\u3057\u305f\u7279\u5fb4\uff08Dysmorphism\uff09\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09:<\/strong> \u982d\u56f2\u304c\u5e73\u5747\u3088\u308a\u3082\u5c0f\u3055\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9854\u8c8c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9577\u3044\u9854\uff08Long face\uff09<\/li>\n\n\n\n<li>\u9ad8\u3044\u524d\u982d\u90e8\uff08\u304a\u3067\u3053\u304c\u5e83\u3044\uff09<\/li>\n\n\n\n<li>\u773c\u77bc\u88c2\u659c\u4e0b\uff08\u30bf\u30ec\u76ee\u50be\u5411\uff09<\/li>\n\n\n\n<li>\u9f3b\u306e\u5909\u5f62\uff08\u9f3b\u6839\u90e8\u304c\u592a\u3044\u3001\u9f3b\u5148\u304c\u4e38\u3044\uff09<\/li>\n\n\n\n<li>\u5c0f\u3055\u306a\u53e3\u3001\u8584\u3044\u4e0a\u5507<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u307e\u305f\u306f\u8033\u306e\u5f62\u306e\u7570\u5e38<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9aa8\u683c\u30fb\u56db\u80a2:<\/strong> \u4f4e\u8eab\u9577\u3001\u5074\u5f2f\u75c7\u3001\u624b\u6307\u306e\u77ed\u7e2e\u3001\u95a2\u7bc0\u306e\u904e\u4f38\u5c55\uff08\u95a2\u7bc0\u304c\u67d4\u3089\u304b\u3059\u304e\u308b\uff09\u3001\u5185\u53cd\u8db3\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u816b\u760d\u767a\u751f\u30ea\u30b9\u30af\uff08TP53\u6b20\u5931\u306b\u95a2\u9023\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u3001\u751f\u547d\u4e88\u5f8c\u3092\u5de6\u53f3\u3059\u308b\u6700\u3082\u91cd\u8981\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6b20\u5931\u7bc4\u56f2\u306bTP53\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u5834\u5408\u3001\u60a3\u8005\u3055\u3093\u306f\u300c\u30ea\u30fb\u30d5\u30e9\u30a6\u30e1\u30cb\u75c7\u5019\u7fa4\uff08LFS\uff09\u300d\u3068\u540c\u69d8\u306e\u816b\u760d\u767a\u751f\u30ea\u30b9\u30af\u3092\u6301\u3064\u3053\u3068\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30ea\u30b9\u30af\u306e\u6982\u8981:<\/strong> \u901a\u5e38\u306e\u4eba\u3088\u308a\u3082\u3001\u5c0f\u5150\u671f\u304b\u3089\u6210\u4eba\u671f\u306b\u304b\u3051\u3066\u3001\u69d8\u3005\u306a\u304c\u3093\u3092\u767a\u75c7\u3059\u308b\u78ba\u7387\u304c\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u597d\u767a\u3059\u308b\u816b\u760d\uff08LFS\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u9aa8\u8edf\u90e8\u8089\u816b:<\/strong> \u9aa8\u8089\u816b\u3001\u6a2a\u7d0b\u7b4b\u8089\u816b\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u8133\u816b\u760d:<\/strong> \u8108\u7d61\u53e2\u764c\u3001\u9ac4\u82bd\u816b\u3001\u795e\u7d4c\u81a0\u816b\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u526f\u814e\u76ae\u8cea\u764c:<\/strong> \u5c0f\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u7a00\u306a\u816b\u760d\u3002<\/li>\n\n\n\n<li><strong>\u767d\u8840\u75c5:<\/strong> \u6025\u6027\u30ea\u30f3\u30d1\u6027\u767d\u8840\u75c5\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u4e73\u304c\u3093:<\/strong> \u5973\u6027\u306e\u5834\u5408\u3001\u82e5\u5e74\uff0820\u4ee3\u301c30\u4ee3\uff09\u3067\u306e\u767a\u75c7\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7279\u5fb4:<\/strong> \u3053\u308c\u3089\u306e\u304c\u3093\u306f\u3001\u5c0f\u5150\u671f\u3084\u82e5\u5e74\u671f\u306b\u767a\u75c7\u3057\u3084\u3059\u304f\u3001\u307e\u305f\u751f\u6daf\u3067\u8907\u6570\u306e\u304c\u3093\uff08\u591a\u91cd\u304c\u3093\uff09\u306b\u304b\u304b\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u203b\u6ce8\u610f:<\/strong> \u3059\u3079\u3066\u306e17p13.1\u6b20\u5931\u60a3\u8005\u3055\u3093\u304c\u304c\u3093\u306b\u306a\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u72b6\u614b\uff08\u30cf\u30a4\u30ea\u30b9\u30af\u7fa4\uff09\u3067\u3042\u308b\u3068\u3044\u3046\u8a8d\u8b58\u306e\u3082\u3068\u3001\u4e88\u9632\u7684\u306a\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u5f37\u304f\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>17\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff0817p13.1\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931\u306b\u3088\u308b\u3001\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u4e3b\u8981\u8cac\u4efb\u907a\u4f1d\u5b50\u3068\u305d\u306e\u5f71\u97ff<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>DLG4\u306e\u30cf\u30d7\u30ed\u4e0d\u5168:<br>\u8133\u306e\u795e\u7d4c\u7d30\u80de\u304c\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u3092\u4f5c\u308b\u969b\u3001\u30b7\u30ca\u30d7\u30b9\u5f8c\u90e8\u3067\u8db3\u5834\u3068\u306a\u308b\u30bf\u30f3\u30d1\u30af\u8cea\uff08PSD-95\uff09\u304c\u4e0d\u8db3\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u795e\u7d4c\u4f1d\u9054\u306e\u52b9\u7387\u304c\u60aa\u304f\u306a\u308a\u3001\u77e5\u7684\u969c\u5bb3\u3084\u904b\u52d5\u767a\u9054\u9045\u6ede\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306a\u3069\u306e\u795e\u7d4c\u75c7\u72b6\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>TP53\u306e\u30cf\u30d7\u30ed\u4e0d\u5168:<br>\u300c\u304c\u3093\u6291\u5236\u907a\u4f1d\u5b50\u300d\u304c\u7247\u65b9\u3057\u304b\u6a5f\u80fd\u3057\u306a\u3044\u72b6\u614b\u306b\u306a\u308a\u307e\u3059\u3002\u901a\u5e38\u3001\u7d30\u80de\u306eDNA\u306b\u50b7\u304c\u3064\u304f\u3068p53\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u4fee\u5fa9\u3084\u7d30\u80de\u6b7b\u3092\u6307\u4ee4\u3057\u307e\u3059\u304c\u3001\u3053\u306e\u76e3\u8996\u6a5f\u80fd\u304c\u5f31\u307e\u308b\u305f\u3081\u3001DNA\u5909\u7570\u304c\u84c4\u7a4d\u3057\u3084\u3059\u304f\u306a\u308a\u3001\u304c\u3093\u7d30\u80de\u304c\u767a\u751f\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \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:<\/strong> 17p13.1\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\u767a\u7684\u306b\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4e00\u822c\u96c6\u56e3\u3068\u540c\u7a0b\u5ea6\uff08\u975e\u5e38\u306b\u4f4e\u3044\uff09\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u5bb6\u65cf\u6027\uff08\u89aa\u306e\u8ee2\u5ea7\u306a\u3069\uff09:<\/strong> \u7a00\u306b\u3001\u89aa\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u3092\u6301\u3063\u3066\u3044\u305f\u308a\u3001\u89aa\u81ea\u8eab\u304c\u30e2\u30b6\u30a4\u30af\uff08\u4f53\u306e\u4e00\u90e8\u3060\u3051\u6b20\u5931\u3092\u6301\u3064\uff09\u3084\u3001\u8efd\u5ea6\u306e\u75c7\u72b6\u3092\u6301\u3064\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u4e00\u822c\u7684\u306a\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u306f\u3001\u6b20\u5931\u304c\u5fae\u7d30\u3067\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<br>\u30b2\u30ce\u30e0\u5168\u57df\u306e\u30b3\u30d4\u30fc\u6570\u5909\u5316\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u300117p13.1\u9818\u57df\u306e\u5fae\u7d30\u6b20\u5931\u3092\u78ba\u5b9f\u306b\u691c\u51fa\u3067\u304d\u307e\u3059\u3002\u73fe\u5728\u3001\u7b2c\u4e00\u9078\u629e\u3068\u306a\u308b\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>FISH\u6cd5:<br>17p13.1\u9818\u57df\uff08\u7279\u306bTP53\u907a\u4f1d\u5b50\u5ea7\uff09\u3092\u30bf\u30fc\u30b2\u30c3\u30c8\u3068\u3057\u305f\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u308b\u3053\u3068\u3067\u3001\u6b20\u5931\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u8a3a\u65ad\u306e\u969b\u306f\u3001\u300c\u6b20\u5931\u7bc4\u56f2\u306bTP53\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u300d\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u3001\u305d\u306e\u5f8c\u306e\u533b\u5b66\u7684\u7ba1\u7406\u65b9\u91dd\u3092\u6c7a\u3081\u308b\u4e0a\u3067\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5\u30fb\u533b\u5b66\u7684\u7ba1\u7406<\/strong><\/h2>\n\n\n\n<p>\u6b20\u5931\u3057\u305f\u67d3\u8272\u4f53\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306e\u67f1\u306f\u3001\u300c\u767a\u9054\u652f\u63f4\uff08\u7642\u80b2\uff09\u300d\u3068\u3001\u304c\u3093\u3092\u65e9\u671f\u767a\u898b\u3059\u308b\u305f\u3081\u306e\u300c\u53b3\u91cd\u306a\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff08\u691c\u8a3a\uff09\u300d\u306e2\u672c\u7acb\u3066\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u816b\u760d\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff08TP53\u6b20\u5931\u4f8b\uff09<\/strong><\/p>\n\n\n\n<p><em>TP53<\/em>\u907a\u4f1d\u5b50\u6b20\u5931\u304c\u3042\u308b\u5834\u5408\u3001\u56fd\u969b\u7684\u306a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\uff08\u901a\u79f0\uff1a<strong>\u30c8\u30ed\u30f3\u30c8\u30fb\u30d7\u30ed\u30c8\u30b3\u30eb<\/strong>\u3084\u305d\u306e\u6539\u8a02\u7248\uff09\u306b\u6e96\u3058\u305f\u691c\u8a3a\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u65e9\u671f\u767a\u898b\u3067\u304d\u308c\u3070\u3001\u6cbb\u7642\u306e\u9078\u629e\u80a2\u304c\u5e83\u304c\u308a\u3001\u4e88\u5f8c\u3092\u6539\u5584\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5168\u8eabMRI\u691c\u67fb:<\/strong> \u653e\u5c04\u7dda\u88ab\u66dd\u306e\u306a\u3044MRI\u3092\u7528\u3044\u3066\u3001\u5168\u8eab\uff08\u7279\u306b\u8133\u3001\u8edf\u90e8\u7d44\u7e54\u3001\u9aa8\uff09\u306e\u816b\u760d\u3092\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3057\u307e\u3059\u3002\u5e74\u306b1\u56de\u7a0b\u5ea6\u306e\u5b9f\u65bd\u304c\u63a8\u5968\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8840\u6db2\u691c\u67fb\u30fb\u8179\u90e8\u30a8\u30b3\u30fc:<\/strong> \u526f\u814e\u76ae\u8cea\u764c\u3084\u767d\u8840\u75c5\u306e\u5146\u5019\u304c\u306a\u3044\u304b\u3001\u5b9a\u671f\u7684\u306b\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8eab\u4f53\u8a3a\u5bdf:<\/strong> \u795e\u7d4c\u5b66\u7684\u6240\u898b\uff08\u8133\u816b\u760d\u306e\u5146\u5019\uff09\u3084\u3001\u76ae\u819a\u30fb\u4f53\u8868\u306e\u3057\u3053\u308a\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u88ab\u66dd\u306e\u56de\u907f:<\/strong> <em>TP53<\/em>\u6a5f\u80fd\u4e0d\u5168\u304c\u3042\u308b\u5834\u5408\u3001\u653e\u5c04\u7dda\u306b\u3088\u308bDNA\u640d\u50b7\u306b\u5bfe\u3059\u308b\u4fee\u5fa9\u80fd\u529b\u304c\u5f31\u3044\u305f\u3081\u3001\u8a3a\u65ad\u76ee\u7684\u306eCT\u691c\u67fb\u3084X\u7dda\u64ae\u5f71\u306f\u5fc5\u8981\u6700\u5c0f\u9650\u306b\u3057\u3001\u53ef\u80fd\u306a\u9650\u308aMRI\u3084\u30a8\u30b3\u30fc\u3067\u4ee3\u7528\u3059\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u9054\u30fb\u6559\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong> \u4f4e\u7dca\u5f35\u3084\u904b\u52d5\u767a\u9054\u9045\u6ede\u306b\u5bfe\u3057\u3001\u8eab\u4f53\u4f5c\u308a\u3092\u652f\u63f4\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u5fae\u7d30\u904b\u52d5\u3084\u611f\u899a\u7d71\u5408\u7642\u6cd5\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<\/strong> \u8a00\u8449\u306e\u9045\u308c\u3084\u6442\u98df\u56a5\u4e0b\u6a5f\u80fd\u3078\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6559\u80b2:<\/strong> \u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u3084\u7279\u6027\u306b\u5408\u308f\u305b\u3001\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u3084\u7279\u5225\u652f\u63f4\u5b66\u6821\u306a\u3069\u3001\u9069\u5207\u306a\u6559\u80b2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u305d\u306e\u4ed6\u3001\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong> \u8133\u6ce2\u691c\u67fb\u3092\u884c\u3044\u3001\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u306f\u6297\u3066\u3093\u304b\u3093\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u30fb\u6574\u5f62\u5916\u79d1:<\/strong> \u8996\u529b\u969c\u5bb3\u3084\u5074\u5f2f\u75c7\u306a\u3069\u306b\u5bfe\u3057\u3001\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u3068\u88c5\u5177\u7642\u6cd5\u306a\u3069\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u672c\u75be\u60a3\u306f\u3001\u5358\u306a\u308b\u767a\u9054\u969c\u5bb3\u3060\u3051\u3067\u306a\u304f\u3001\u300c\u304c\u3093\u5bb6\u7cfb\u306b\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\uff08\u907a\u4f1d\u6027\u816b\u760d\uff09\u300d\u3068\u3044\u3046\u5074\u9762\u3092\u6301\u3064\u305f\u3081\u3001\u3054\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8\u3068\u6b63\u78ba\u306a\u60c5\u5831\u63d0\u4f9b\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u300c\u3044\u3064\u3001\u3069\u306e\u3088\u3046\u306a\u691c\u8a3a\u3092\u53d7\u3051\u308b\u3079\u304d\u304b\u300d\u300c\u304d\u3087\u3046\u3060\u3044\u306e\u691c\u67fb\u306f\u3069\u3046\u3059\u308b\u304b\u300d\u3068\u3044\u3063\u305f\u30c7\u30ea\u30b1\u30fc\u30c8\u306a\u554f\u984c\u306b\u3064\u3044\u3066\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u5171\u306b\u8a08\u753b\u3092\u7acb\u3066\u3066\u3044\u304d\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>17p13.1 deletion syndrome\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u306e\u3086\u3063\u304f\u308a\u3055\u3084\u3001\u5c11\u3057\u5c0f\u67c4\u306a\u4f53\u683c\u3068\u3044\u3063\u305f\u7279\u5fb4\u306b\u52a0\u3048\u3066\u3001\u304c\u3093\u6291\u5236\u907a\u4f1d\u5b50TP53\u3092\u542b\u3080\u6b20\u5931\u306e\u5834\u5408\u306f\u3001\u5c06\u6765\u7684\u306a\u816b\u760d\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u3068\u3044\u3046\u7279\u5fb4\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u304c\u3093\u306e\u30ea\u30b9\u30af\u300d\u3068\u805e\u304f\u3068\u5927\u304d\u306a\u4e0d\u5b89\u3092\u611f\u3058\u3089\u308c\u308b\u304b\u3068\u601d\u3044\u307e\u3059\u304c\u3001\u91cd\u8981\u306a\u306e\u306f\u300c\u30ea\u30b9\u30af\u3092\u77e5\u3063\u3066\u3044\u308b\u304b\u3089\u3053\u305d\u3001\u5148\u624b\u3092\u6253\u3066\u308b\u300d\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u306f\u3001\u88ab\u66dd\u306e\u306a\u3044\u5168\u8eabMRI\u306a\u3069\u3092\u6d3b\u7528\u3057\u305f\u300c\u30c8\u30ed\u30f3\u30c8\u30fb\u30d7\u30ed\u30c8\u30b3\u30eb\u300d\u306a\u3069\u306e\u691c\u8a3a\u4f53\u5236\u304c\u78ba\u7acb\u3055\u308c\u3064\u3064\u3042\u308a\u3001\u4e07\u304c\u4e00\u816b\u760d\u304c\u3067\u304d\u3066\u3082\u65e9\u671f\u767a\u898b\u30fb\u65e9\u671f\u6cbb\u7642\u306b\u3088\u3063\u3066\u514b\u670d\u3067\u304d\u308b\u30b1\u30fc\u30b9\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306e\u767a\u9054\u3092\u7642\u80b2\u3067\u652f\u3048\u306a\u304c\u3089\u3001\u5b9a\u671f\u7684\u306a\u30e1\u30c7\u30a3\u30ab\u30eb\u30c1\u30a7\u30c3\u30af\u3092\u751f\u6d3b\u306e\u4e00\u90e8\u306b\u7d44\u307f\u8fbc\u3080\u3053\u3068\u3067\u3001\u5065\u3084\u304b\u306a\u6210\u9577\u3092\u5b88\u3063\u3066\u3044\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\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>Carvalho, C.M., et al.<\/strong> (2010). 17p13.1 microdeletions: a spectrum of molecular and clinical heterogeneity. <em>American Journal of Medical Genetics Part A<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b17p13.1\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3068\u3001TP53\u3092\u542b\u3080\u30fb\u542b\u307e\u306a\u3044\u30b1\u30fc\u30b9\u306e\u9055\u3044\u306b\u3064\u3044\u3066\u8a73\u7d30\u306b\u89e3\u6790\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Zguro, K., et al.<\/strong> (2015). 17p13.1 Microdeletion including <em>TP53<\/em> gene in a boy with intellectual disability, psychomotor retardation, obesity and epilepsy. <em>European Journal of Medical Genetics<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203bTP53\u6b20\u5931\u3092\u4f34\u304617p13.1\u6b20\u5931\u60a3\u8005\u306e\u75c7\u4f8b\u5831\u544a\u3068\u81e8\u5e8a\u50cf\u306e\u307e\u3068\u3081\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Malkin, D., et al.<\/strong> (2016). Li-Fraumeni syndrome: an evolving paradigm. <em>Cancer<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203bTP53\u5909\u7570\/\u6b20\u5931\u3092\u6301\u3064\u60a3\u8005\u306b\u5bfe\u3059\u308b\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\u6307\u91dd\u300c\u30c8\u30ed\u30f3\u30c8\u30fb\u30d7\u30ed\u30c8\u30b3\u30eb\u300d\u306b\u95a2\u3059\u308b\u57fa\u790e\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Kratz, C.P., et al.<\/strong> (2017). Cancer screening recommendations for individuals with Li-Fraumeni syndrome. <em>Clinical Cancer Research<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u304c\u3093\u691c\u8a3a\u306e\u5177\u4f53\u7684\u306a\u63a8\u5968\u4e8b\u9805\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Lelieveld, S.H., et al.<\/strong> (2016). Spatial clustering of <em>de novo<\/em> missense mutations identifies candidate neurodevelopmental disorder genes. <em>American Journal of Human Genetics<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203bDLG4\u907a\u4f1d\u5b50\u304c\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u306e\u91cd\u8981\u306a\u5019\u88dc\u907a\u4f1d\u5b50\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>DECIPHER Database<\/strong>: <em>Genomic coordinates and phenotype data for 17p13.1 deletions.<\/em><\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>TP53<\/em> (Haploinsufficiency score: 3 &#8211; Sufficient evidence), <em>DLG4<\/em>.<\/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-16722","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\/16722","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":3,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16722\/revisions"}],"predecessor-version":[{"id":16832,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16722\/revisions\/16832"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16722"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}