{"id":17130,"date":"2026-01-21T07:06:49","date_gmt":"2026-01-21T07:06:49","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17130"},"modified":"2026-01-21T07:06:49","modified_gmt":"2026-01-21T07:06:49","slug":"7p-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/7p-deletion-syndrome\/","title":{"rendered":"7p 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>7p\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>7p-\u75c7\u5019\u7fa4\uff087p minus syndrome\uff09<\/li>\n\n\n\n<li>7\u756a\u67d3\u8272\u4f53\u77ed\u8155\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>7p\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 7p \/ Partial monosomy 7p\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u30b0\u30ec\u30a4\u30b0\u30fb\u30bb\u30d5\u30a1\u30ed\u30dd\u30ea\u30b7\u30f3\u30c0\u30af\u30c6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\uff08Greig Cephalopolysyndactyly Syndrome; GCPS\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b7p14.3\u9818\u57df\u306e<em>GLI3<\/em>\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u306b\u542b\u307e\u308c\u308b\u5834\u5408\u3001\u3053\u306e\u75be\u60a3\u306e\u7279\u5fb4\uff08\u591a\u6307\u30fb\u5408\u6307\u30fb\u5de8\u982d\uff09\u304c\u73fe\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u30bc\u30fc\u30c4\u30ec\u30fb\u30c1\u30e7\u30b3\u30c3\u30c8\u75c7\u5019\u7fa4\uff08Saethre-Chotzen syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b7p21.1\u9818\u57df\u306e<em>TWIST1<\/em>\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u306b\u542b\u307e\u308c\u308b\u5834\u5408\u3001\u3053\u306e\u75be\u60a3\u306e\u7279\u5fb4\uff08\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\uff09\u304c\u73fe\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>7p21\u6b20\u5931\u75c7\u5019\u7fa4\uff087p21 deletion syndrome\uff09<\/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>7\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff09\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e7\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\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\u308b\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u5019\u7fa4\u306e\u7dcf\u79f0\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c7p\u300d\u3068\u3072\u3068\u304f\u304f\u308a\u306b\u3055\u308c\u307e\u3059\u304c\u3001\u6b20\u5931\u3059\u308b\u5834\u6240\uff08\u30d0\u30f3\u30c9\uff09\u3084\u5927\u304d\u3055\u306b\u3088\u3063\u3066\u75c7\u72b6\u306f\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u5927\u304d\u304f\u5206\u3051\u3066\u4ee5\u4e0b\u306e2\u3064\u306e\u91cd\u8981\u306a\u9818\u57df\uff08\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\uff09\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. 7p21\u9818\u57df\uff08TWIST1\u907a\u4f1d\u5b50\u3092\u542b\u3080\uff09:<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u306e\u5148\u7aef\u306b\u8fd1\u3044\u9818\u57df\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u3053\u306b\u306f\u3001\u982d\u84cb\u9aa8\u306e\u5f62\u6210\u306b\u91cd\u8981\u306a<strong>TWIST1\u907a\u4f1d\u5b50<\/strong>\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u9818\u57df\u304c\u6b20\u5931\u3059\u308b\u3068\u3001\u982d\u306e\u9aa8\u306e\u7d99\u304e\u76ee\u304c\u65e9\u304f\u9589\u3058\u3066\u3057\u307e\u3046\u300c\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\u300d\u3084\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. 7p13-p14\u9818\u57df\uff08GLI3\u907a\u4f1d\u5b50\u3092\u542b\u3080\uff09:<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u306e\u4e2d\u9593\u4ed8\u8fd1\u306e\u9818\u57df\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u3053\u306b\u306f\u3001\u624b\u8db3\u306e\u6307\u3084\u8133\u306e\u5f62\u6210\u306b\u91cd\u8981\u306a<strong>GLI3\u907a\u4f1d\u5b50<\/strong>\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u9818\u57df\u304c\u6b20\u5931\u3059\u308b\u3068\u3001\u6307\u304c\u591a\u3044\uff08\u591a\u6307\u75c7\uff09\u3001\u6307\u304c\u304f\u3063\u3064\u3044\u3066\u3044\u308b\uff08\u5408\u6307\u75c7\uff09\u3001\u982d\u304c\u5927\u304d\u3044\uff08\u5de8\u982d\u75c7\uff09\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3010\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3068\u3057\u3066\u306e\u6027\u8cea\u3011<\/p>\n\n\n\n<p>7p\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u591a\u304f\u306f\u3001\u4e0a\u8a18\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3060\u3051\u3067\u306a\u304f\u3001\u305d\u306e\u5468\u308a\u306e\u907a\u4f1d\u5b50\u3082\u307e\u3068\u3081\u3066\u6b20\u5931\u3057\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u907a\u4f1d\u5b50\u5358\u4f53\u306e\u5909\u7570\uff08\u70b9\u5909\u7570\uff09\u306b\u3088\u308b\u75be\u60a3\uff08GCPS\u3084\u30bc\u30fc\u30c4\u30ec\u30fb\u30c1\u30e7\u30b3\u30c3\u30c8\u75c7\u5019\u7fa4\u5358\u72ec\uff09\u306b\u6bd4\u3079\u3066\u3001**\u300c\u77e5\u7684\u969c\u5bb3\u300d\u3084\u300c\u767a\u9054\u9045\u6ede\u300d**\u304c\u91cd\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3092\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff08Contiguous gene syndrome\uff09\u300d\u3068\u547c\u3073\u307e\u3059\u3002<\/p>\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>\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u306b\u304a\u3051\u308b\u5831\u544a\u6570\u306f\u3001\u9818\u57df\u3054\u3068\u306b\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u6570\u767e\u4f8b\u898f\u6a21\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\u3084\u591a\u6307\u75c7\u3068\u3044\u3046\u76ee\u306b\u898b\u3048\u308b\u7279\u5fb4\u304c\u3042\u308b\u305f\u3081\u3001\u6bd4\u8f03\u7684\u8a3a\u65ad\u3055\u308c\u3084\u3059\u3044\u75be\u60a3\u3067\u3059\u304c\u3001\u5fae\u7d30\u306a\u6b20\u5931\u306e\u5834\u5408\u306f\u898b\u9003\u3055\u308c\u3066\u3044\u308b\uff08\u904e\u5c11\u8a3a\u65ad\uff09\u53ef\u80fd\u6027\u3082\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>7p deletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u982d\u84cb\u9854\u9762\u306e\u7279\u5fb4\u300d\u300c\u624b\u8db3\u306e\u7570\u5e38\u300d\u300c\u767a\u9054\u9045\u6ede\u300d**\u304c3\u5927\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6b20\u5931\u90e8\u4f4d\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u3053\u3053\u3067\u306f\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u3092\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u982d\u84cb\u9854\u9762\u306e\u7279\u5fb4\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u6b20\u5931\u90e8\u4f4d\u306b\u3088\u308a\u3001\u300c\u982d\u304c\u5927\u304d\u304f\u306a\u308b\u30bf\u30a4\u30d7\u300d\u3068\u300c\u982d\u306e\u5f62\u304c\u5909\u308f\u308b\u30bf\u30a4\u30d7\u300d\u306b\u5206\u304b\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\uff08Craniosynostosis\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e3b\u306b**7p21\u6b20\u5931\uff08TWIST1\u6b20\u5931\uff09**\u3067\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8d64\u3061\u3083\u3093\u306e\u982d\u306e\u9aa8\u306e\u7d99\u304e\u76ee\uff08\u7e2b\u5408\u7dda\uff09\u304c\u3001\u8133\u304c\u6210\u9577\u3057\u304d\u308b\u524d\u306b\u9589\u3058\u3066\u3057\u307e\u3046\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u9589\u3058\u308b\u5834\u6240\u306b\u3088\u3063\u3066\u3001\u77ed\u982d\uff08\u7d76\u58c1\uff09\u3001\u821f\u72b6\u982d\uff08\u524d\u5f8c\u306b\u9577\u3044\uff09\u3001\u4e09\u89d2\u982d\uff08\u304a\u3067\u3053\u304c\u5c16\u308b\uff09\u306a\u3069\u306e\u5909\u5f62\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u653e\u7f6e\u3059\u308b\u3068\u8133\u5727\u304c\u4e0a\u304c\u308a\u3001\u767a\u9054\u306b\u5f71\u97ff\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5927\u982d\u75c7\uff08Macrocephaly\uff09 \/ \u524d\u982d\u90e8\u7a81\u51fa:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e3b\u306b**7p13-14\u6b20\u5931\uff08GLI3\u6b20\u5931\uff09**\u3067\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u304a\u3067\u3053\u304c\u5e83\u304f\u3001\u524d\u306b\u5f35\u308a\u51fa\u3057\u3066\u304a\u308a\u3001\u982d\u56f2\u304c\u5927\u304d\u3044\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5927\u6cc9\u9580\uff08\u982d\u306e\u3066\u3063\u307a\u3093\u306e\u67d4\u3089\u304b\u3044\u90e8\u5206\uff09\u304c\u5927\u304d\u304f\u3001\u9589\u3058\u308b\u306e\u304c\u9045\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9854\u8c8c:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u9593\u958b\u96e2\uff08Hypertelorism\uff09\uff1a<\/strong> \u76ee\u3068\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u773c\u77bc\u4e0b\u5782:<\/strong> \u307e\u3076\u305f\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li>\u9f3b\u6839\u90e8\u304c\u4f4e\u304f\u5e83\u3044\u3002<\/li>\n\n\n\n<li>\u4f4e\u4f4d\u4ed8\u7740\u8033\u3001\u8033\u4ecb\u306e\u5909\u5f62\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u624b\u8db3\u30fb\u56db\u80a2\u306e\u7570\u5e38\uff08Limb anomalies\uff09<\/strong><\/p>\n\n\n\n<p>\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>\u591a\u6307\u75c7\uff08Polydactyly\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u3084\u8db3\u306e\u6307\u304c6\u672c\u4ee5\u4e0a\u3042\u308b\u72b6\u614b\u3067\u3059\u3002\u7279\u306b\u89aa\u6307\u5074\uff08\u8ef8\u524d\u6027\uff09\u3084\u5c0f\u6307\u5074\uff08\u8ef8\u5f8c\u6027\uff09\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5408\u6307\u75c7\uff08Syndactyly\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6307\u3068\u6307\u306e\u9593\u304c\u6c34\u304b\u304d\u72b6\u306b\u304f\u3063\u3064\u3044\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u624b\u3060\u3051\u3067\u306a\u304f\u3001\u8db3\u306e\u6307\u306b\u3082\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u591a\u5408\u6307\u75c7\uff08Polysyndactyly\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u6307\u3068\u5408\u6307\u304c\u5408\u4f75\u3057\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002\u3053\u308c\u306f<em>GLI3<\/em>\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u306b\u3088\u308b\u30b0\u30ec\u30a4\u30b0\u75c7\u5019\u7fa4\u69d8\u306e\u7279\u5fb4\u3068\u3057\u3066\u5178\u578b\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6307\u306e\u7279\u5fb4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u6307\u3084\u8db3\u306e\u89aa\u6307\u304c\u5e45\u5e83\u3044\uff08Broad thumbs\/halluces\uff09\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>\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u3044\u307b\u3069\u3001\u75c7\u72b6\u306f\u91cd\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u6ede\uff08DD\uff09 \/ \u77e5\u7684\u969c\u5bb3\uff08ID\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u5e83\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><em>GLI3<\/em>\u3084<em>TWIST1<\/em>\u907a\u4f1d\u5b50\u306e\u5358\u72ec\u5909\u7570\u3067\u306f\u77e5\u80fd\u304c\u6b63\u5e38\u306a\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u304c\u3001\u67d3\u8272\u4f53\u6b20\u5931\uff08deletion\uff09\u306e\u5834\u5408\u306f\u5468\u8fba\u306e\u907a\u4f1d\u5b50\u3082\u5931\u308f\u308c\u308b\u305f\u3081\u3001\u591a\u304f\u306e\u5834\u5408\u3067<strong>\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3<\/strong>\u3092\u4f34\u3044\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\u9045\u308c\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>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09\u304c\u3042\u308a\u3001\u9996\u3059\u308f\u308a\u3084\u6b69\u884c\u958b\u59cb\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9aa8\u683c:<\/strong> \u5074\u5f2f\u75c7\u3001\u95a2\u7bc0\u306e\u7de9\u3055\u3001\u3042\u308b\u3044\u306f\u95a2\u7bc0\u62d8\u7e2e\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u3001\u52d5\u8108\u7ba1\u958b\u5b58\u75c7\uff08PDA\uff09\u306a\u3069\u306e\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08\u7d0410\u301c20%\uff09\u3002<\/li>\n\n\n\n<li><strong>\u6ccc\u5c3f\u751f\u6b96\u5668:<\/strong> \u505c\u7559\u7cbe\u5de3\uff08\u7537\u5150\uff09\u3001\u6c34\u814e\u75c7\u3001\u8180\u80f1\u5c3f\u7ba1\u9006\u6d41\u75c7\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1:<\/strong> \u659c\u8996\u3001\u5c48\u6298\u7570\u5e38\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>7\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff087p\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\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>7p\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\uff08\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6642\u3001\u307e\u305f\u306f\u53d7\u7cbe\u76f4\u5f8c\uff09\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306e\u5e74\u9f62\u3084\u598a\u5a20\u4e2d\u306e\u74b0\u5883\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\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\u975e\u5e38\u306b\u4f4e\u3044\uff081%\u672a\u6e80\uff09\u3068\u3055\u308c\u3066\u3044\u307e\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\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\uff09\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\u5b50\u306b\u4e0d\u5747\u8861\u306a\u6b20\u5931\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<\/ul>\n\n\n\n<p><strong>2. \u30cf\u30d7\u30ed\u4e0d\u5168\uff08Haploinsufficiency\uff09\u3068\u8cac\u4efb\u907a\u4f1d\u5b50<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>TWIST1\uff087p21.1\uff09:<\/strong> * \u982d\u84cb\u9aa8\u306e\u7e2b\u5408\u7dda\u3092\u5236\u5fa1\u3059\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u308c\u304c\u534a\u5206\u306b\u306a\u308b\u3068\u3001\u9aa8\u306e\u6210\u9577\u30b7\u30b0\u30ca\u30eb\u304c\u4e71\u308c\u3001\u65e9\u671f\u7652\u5408\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>GLI3\uff087p14.3\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u8db3\u306e\u6307\u306e\u6570\u3084\u5f62\u3001\u8133\u306e\u5f62\u3092\u6c7a\u3081\u308b\u300c\u30bd\u30cb\u30c3\u30af\u30fb\u30d8\u30c3\u30b8\u30db\u30c3\u30b0\uff08SHH\uff09\u30b7\u30b0\u30ca\u30eb\u300d\u306e\u8abf\u7bc0\u56e0\u5b50\u3067\u3059\u3002\u3053\u308c\u304c\u534a\u5206\u306b\u306a\u308b\u3068\u3001\u6307\u306e\u5f62\u6210\u505c\u6b62\u304c\u3046\u307e\u304f\u3044\u304b\u305a\u591a\u6307\u306b\u306a\u3063\u305f\u308a\u3001\u6307\u306e\u5206\u96e2\u304c\u3067\u304d\u305a\u5408\u6307\u306b\u306a\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/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\u982d\u306e\u5f62\u3084\u5927\u304d\u3055\u306e\u7570\u5e38\u300d\u300c\u591a\u6307\u30fb\u5408\u6307\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u306e\u7d44\u307f\u5408\u308f\u305b\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>7p\u9818\u57df\u306e\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\uff08bp\u5358\u4f4d\uff09\u3068\u3001<em>TWIST1<\/em>\u3084<em>GLI3<\/em>\u3068\u3044\u3063\u305f\u91cd\u8981\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306b\u3088\u308a\u3001\u4e88\u5f8c\uff08\u624b\u8853\u306e\u5fc5\u8981\u6027\u3084\u767a\u9054\u306e\u898b\u901a\u3057\uff09\u3092\u3088\u308a\u6b63\u78ba\u306b\u4e88\u6e2c\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u982d\u90e8CT \/ 3D-CT:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\u306e\u8a3a\u65ad\u3068\u3001\u624b\u8853\u8a08\u753b\u306e\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002\u7e2b\u5408\u7dda\u306e\u9589\u9396\u72b6\u6cc1\u3092\u7acb\u4f53\u7684\u306b\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30ec\u30f3\u30c8\u30b2\u30f3\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u8db3\u306e\u9aa8\u306e\u69cb\u9020\uff08\u591a\u6307\u30fb\u5408\u6307\u306e\u9aa8\u306e\u72b6\u614b\uff09\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u78ba\u5b9a\u5f8c\u3001\u6b21\u5b50\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\u306e\u305f\u3081\u306b\u884c\u308f\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>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6b20\u5931\u3057\u305f\u67d3\u8272\u4f53\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u982d\u84cb\u9aa8\u3084\u624b\u8db3\u306e\u5f62\u614b\u7570\u5e38\u306b\u5bfe\u3059\u308b\u5916\u79d1\u7684\u6cbb\u7642\u3068\u3001\u767a\u9054\u3092\u4fc3\u3059\u7642\u80b2\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u982d\u84cb\u9854\u9762\u5916\u79d1\u30fb\u8133\u795e\u7d4c\u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<p><strong>7p21\u6b20\u5931\uff08\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\uff09\u306e\u5834\u5408\u3001\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u84cb\u5f62\u6210\u8853:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u6210\u9577\u306b\u5fc5\u8981\u306a\u30b9\u30da\u30fc\u30b9\u3092\u78ba\u4fdd\u3057\u3001\u982d\u84cb\u5185\u5727\u4ea2\u9032\u3092\u9632\u3050\u305f\u3081\u3001\u307e\u305f\u6574\u5bb9\u9762\uff08\u898b\u305f\u76ee\uff09\u3092\u6539\u5584\u3059\u308b\u305f\u3081\u306b\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6642\u671f\u306f\u5909\u5f62\u306e\u7a0b\u5ea6\u3084\u8133\u5727\u306b\u3088\u308a\u307e\u3059\u304c\u3001\u751f\u5f8c\u6570\u30f6\u6708\u301c1\u6b73\u9803\u306b\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5185\u8996\u93e1\u624b\u8853\u3084\u3001\u9aa8\u5ef6\u9577\u5668\u3092\u7528\u3044\u305f\u624b\u8853\u306a\u3069\u3001\u304a\u5b50\u3055\u3093\u306e\u72b6\u614b\u306b\u5408\u308f\u305b\u305f\u8853\u5f0f\u304c\u9078\u629e\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u624b\u8db3\u306e\u5f62\u6210\u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u591a\u6307\u75c7\u30fb\u5408\u6307\u75c7\u306e\u624b\u8853:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u306e\u6a5f\u80fd\u7372\u5f97\u3068\u6574\u5bb9\u9762\u306e\u6539\u5584\u3092\u76ee\u7684\u306b\u3001\u4f59\u5206\u306a\u6307\u306e\u5207\u9664\u3084\u3001\u304f\u3063\u3064\u3044\u3066\u3044\u308b\u6307\u306e\u5206\u96e2\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u901a\u5e38\u30011\u6b73\u524d\u5f8c\u304b\u3089\u5c31\u5b66\u524d\u306b\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u6307\u306e\u4f7f\u3044\u52dd\u624b\u306a\u3069\u3092\u8003\u616e\u3057\u3066\u6642\u671f\u3092\u6c7a\u5b9a\u3057\u307e\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\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\u4f4e\u4e0b\u306b\u5bfe\u3057\u3001\u904b\u52d5\u767a\u9054\u3092\u4fc3\u3057\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\u6307\u306e\u624b\u8853\u5f8c\u306a\u3069\u3001\u624b\u306e\u6a5f\u80fd\uff08\u3064\u307e\u3080\u3001\u63e1\u308b\u306a\u3069\uff09\u3092\u9ad8\u3081\u308b\u30ea\u30cf\u30d3\u30ea\u3092\u884c\u3044\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<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5408\u4f75\u75c7\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1:<\/strong> \u659c\u8996\u3084\u5c48\u6298\u7570\u5e38\u306b\u5bfe\u3057\u3001\u773c\u93e1\u88c5\u7528\u306a\u3069\u306e\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u5b9a\u671f\u7684\u306a\u7d4c\u904e\u89b3\u5bdf\u3084\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u624b\u8853\u3092\u884c\u3044\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><strong>\u60c5\u5831\u306e\u6574\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u300c7p\u6b20\u5931\u300d\u3068\u3044\u3063\u3066\u3082\u3001GLI3\u6b20\u5931\uff08\u30b0\u30ec\u30a4\u30b0\u578b\uff09\u3068TWIST1\u6b20\u5931\uff08\u30c1\u30e7\u30b3\u30c3\u30c8\u578b\uff09\u3067\u306f\u75c7\u72b6\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u304a\u5b50\u3055\u3093\u306e\u30bf\u30a4\u30d7\u306b\u5408\u308f\u305b\u305f\u6b63\u78ba\u306a\u60c5\u5831\u63d0\u4f9b\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\u3084\u3001\u5c06\u6765\u306e\u751f\u6d3b\u8a2d\u8a08\u306b\u3064\u3044\u3066\u76f8\u8ac7\u306b\u4e57\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>7p deletion syndrome\u306f\u30017\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\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\u3064\u304d\u982d\u306e\u5f62\u304c\u5c11\u3057\u7279\u5fb4\u7684\u3060\u3063\u305f\u308a\u3001\u624b\u8db3\u306e\u6307\u304c\u591a\u304b\u3063\u305f\u308a\u304f\u3063\u3064\u3044\u3066\u3044\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306f\u3001\u8d64\u3061\u3083\u3093\u304c\u304a\u8179\u306e\u4e2d\u3067\u4f53\u3092\u4f5c\u308b\u3068\u304d\u306b\u5fc5\u8981\u306a\u300c\u8a2d\u8a08\u56f3\uff08\u907a\u4f1d\u5b50\uff09\u300d\u306e\u4e00\u90e8\u304c\u4e0d\u8db3\u3057\u3066\u3044\u305f\u305f\u3081\u306b\u8d77\u3053\u3063\u305f\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u982d\u306e\u624b\u8853\u300d\u3084\u300c\u6307\u306e\u624b\u8853\u300d\u3068\u805e\u304f\u3068\u3001\u3054\u5bb6\u65cf\u306f\u3068\u3066\u3082\u4e0d\u5b89\u306b\u601d\u308f\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u73fe\u5728\u306e\u533b\u7642\u6280\u8853\u3067\u306f\u3001\u3053\u308c\u3089\u306e\u624b\u8853\u306f\u78ba\u7acb\u3055\u308c\u3066\u304a\u308a\u3001\u9069\u5207\u306a\u6642\u671f\u306b\u884c\u3046\u3053\u3068\u3067\u3001\u8133\u306e\u767a\u9054\u3092\u5b88\u308a\u3001\u624b\u306e\u6a5f\u80fd\u3092\u5341\u5206\u306b\u5f15\u304d\u51fa\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u767a\u9054\u306b\u95a2\u3057\u3066\u306f\u3086\u3063\u304f\u308a\u3068\u3057\u305f\u30da\u30fc\u30b9\u3067\u9032\u3093\u3067\u3044\u304d\u307e\u3059\u304c\u3001\u7642\u80b2\u3092\u901a\u3058\u3066\u300c\u3067\u304d\u308b\u3053\u3068\u300d\u306f\u7740\u5b9f\u306b\u5897\u3048\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u624b\u8853\u3092\u4e57\u308a\u8d8a\u3048\u3001\u30ea\u30cf\u30d3\u30ea\u3092\u9811\u5f35\u308b\u304a\u5b50\u3055\u3093\u306e\u59ff\u306f\u3001\u3054\u5bb6\u65cf\u306b\u591a\u304f\u306e\u52c7\u6c17\u3092\u4e0e\u3048\u3066\u304f\u308c\u308b\u306f\u305a\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u6b20\u3051\u3066\u3044\u308b\u5834\u6240\u306b\u3088\u3063\u3066\u75c7\u72b6\u304c\u4e00\u4eba\u3072\u3068\u308a\u9055\u3044\u307e\u3059\u3002\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u4e0a\u306e\u60c5\u5831\u3060\u3051\u3067\u5224\u65ad\u305b\u305a\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u7d50\u679c\u3092\u3082\u3068\u306b\u3001\u305d\u306e\u5b50\u81ea\u8eab\u306e\u300c\u7279\u5fb4\u300d\u3092\u6b63\u3057\u304f\u7406\u89e3\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8133\u795e\u7d4c\u5916\u79d1\u533b\u3001\u5f62\u6210\u5916\u79d1\u533b\u3001\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\u5065\u3084\u304b\u306a\u6210\u9577\u3092\u3001\u9577\u304f\u3001\u6e29\u304b\u304f\u652f\u3048\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Cai, J., et al.<\/strong> (2003). <em>A spectrum of 7p deletions: clinical phenotype and molecular characterization.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b7p21\uff08TWIST1\uff09\u30687p13\uff08GLI3\uff09\u3092\u542b\u3080\u69d8\u3005\u306a7p\u6b20\u5931\u75c7\u4f8b\u3092\u6bd4\u8f03\u3057\u3001\u6b20\u5931\u90e8\u4f4d\u3068\u81e8\u5e8a\u75c7\u72b6\uff08\u982d\u84cb\u7652\u5408 vs \u5de8\u982d\u30fb\u591a\u6307\uff09\u306e\u660e\u78ba\u306a\u76f8\u95a2\uff08Genotype-Phenotype Correlation\uff09\u3092\u793a\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Johnston, J.J., et al.<\/strong> (2002). <em>Molecular analysis of the GLI3 gene in 107 cases of polysyndactyly.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bGLI3\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u304c\u591a\u6307\u30fb\u5408\u6307\u75c7\u306e\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u8a73\u7d30\u306b\u89e3\u6790\u3057\u3001\u5fae\u7d30\u6b20\u5931\u3082\u542b\u3081\u305f\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u3092\u660e\u3089\u304b\u306b\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>El-Gharbawy, A.H., et al.<\/strong> (2006). <em>Molecular characterization of a patient with 7p21 deletion and Saethre-Chotzen syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bTWIST1\u3092\u542b\u30807p21\u6b20\u5931\u60a3\u8005\u306e\u75c7\u4f8b\u5831\u544a\u3002\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3068\u3057\u3066\u306e\u767a\u9054\u9045\u6ede\u3068\u3001\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\u306e\u95a2\u9023\u306b\u3064\u3044\u3066\u8a73\u8ff0\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>7p deletions<\/em> (2018).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u982d\u84cb\u9aa8\u306e\u624b\u8853\u3001\u624b\u8db3\u306e\u30b1\u30a2\u3001\u767a\u9054\u306e\u76ee\u5b89\u3001\u7642\u80b2\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\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>GeneReviews\u00ae [Internet]<\/strong>: <em>Greig Cephalopolysyndactyly Syndrome<\/em> \/ <em>Saethre-Chotzen Syndrome<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u672c\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u306a\u8868\u73fe\u578b\u3067\u3042\u308bGCPS\u304a\u3088\u3073SCS\u306e\u8a3a\u65ad\u57fa\u6e96\u3001\u6700\u65b0\u306e\u7ba1\u7406\u6307\u91dd\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u60c5\u5831\u3092\u7db2\u7f85\u3057\u305f\u3001\u81e8\u5e8a\u73fe\u5834\u3067\u6700\u3082\u4fe1\u983c\u3055\u308c\u308b\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\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-17130","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\/17130","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\/17130\/revisions"}],"predecessor-version":[{"id":17133,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17130\/revisions\/17133"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17130"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}