{"id":42116,"date":"2020-08-18T10:53:00","date_gmt":"2020-08-18T01:53:00","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome\/"},"modified":"2025-08-11T11:42:33","modified_gmt":"2025-08-11T02:42:33","slug":"greig-cephalopolysyndactyly-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome\/?lang=zh-hans","title":{"rendered":"\u683c\u96f7\u683c\u6c0f\u5c16\u5934\u591a\u5e76\u6307\u7efc\u5408\u75c7 (GCPS)\u662f\u7531GLI3\u57fa\u56e0\u7f3a\u5931\u5f15\u8d77\u7684\u3010\u533b\u751f\u76d1\u4fee\u3011"},"content":{"rendered":"\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome\/?lang=zh-hans\/#%E6%9F%93%E8%89%B2%E4%BD%93%EF%BC%88%E5%9F%BA%E5%9B%A0%EF%BC%89%E7%9A%84%E7%BC%BA%E5%A4%B1%E6%98%AF%E4%BB%80%E4%B9%88\" >\u67d3\u8272\u4f53\uff08\u57fa\u56e0\uff09\u7684\u7f3a\u5931\u662f\u4ec0\u4e48<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome\/?lang=zh-hans\/#%E5%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93%E6%98%BE%E6%80%A7%E5%92%8C%E5%8D%95%E5%80%8D%E4%BD%93%E4%B8%8D%E8%B6%B3\" >\u5e38\u67d3\u8272\u4f53\u663e\u6027\u548c\u5355\u500d\u4f53\u4e0d\u8db3<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome\/?lang=zh-hans\/#%E4%B8%8E%E5%B8%95%E5%88%A9%E6%96%AF%E7%89%B9-%E9%9C%8D%E5%B0%94%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E5%8C%BA%E5%88%AB\" >\u4e0e\u5e15\u5229\u65af\u7279-\u970d\u5c14\u7efc\u5408\u75c7\u7684\u533a\u522b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome\/?lang=zh-hans\/#%E4%BA%A7%E5%89%8D%E8%AF%8A%E6%96%AD%E4%B8%AD%E7%9A%84GCPS%E5%8F%8A%E5%85%B6%E6%96%B9%E6%B3%95\" >\u4ea7\u524d\u8bca\u65ad\u4e2d\u7684GCPS\u53ca\u5176\u65b9\u6cd5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome\/?lang=zh-hans\/#%E6%A6%82%E8%A6%81\" >\u6982\u8981<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading hidden-heading\"><span class=\"ez-toc-section\" id=\"i\"><\/span>\u00a0<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><span style=\"color: inherit; font-size: 1.56em; font-weight: 600;\">\u76ee\u5f55<\/span><\/p>\n<div class=\"toc\">\n<ul>\n<li><a href=\"#c1\">\u683c\u96f7\u683c\u6c0f\u5c16\u5934\u591a\u5e76\u6307\u7efc\u5408\u75c7\uff08GCPS\uff09\u662f\u4ec0\u4e48<\/a><\/li>\n<li><a href=\"#c2\">GCPS\u53d1\u751f\u7684\u539f\u56e0\uff0c\u662f\u7531\u4e8eGLI3\u57fa\u56e0\u7684\u90e8\u5206\u7f3a\u5931<\/a><\/li>\n<li><a href=\"#c3\">\u67d3\u8272\u4f53\u7f3a\u5931\u4f4d\u7f6e\u300c7p14.1\u300d\u662f\u4ec0\u4e48<\/a><\/li>\n<li><a href=\"#c4\">\u67d3\u8272\u4f53\uff08\u57fa\u56e0\uff09\u7684\u7f3a\u5931\u662f\u4ec0\u4e48<\/a><\/li>\n<li><a href=\"#c5\">\u5e38\u67d3\u8272\u4f53\u663e\u6027\u548c\u5355\u500d\u4f53\u4e0d\u8db3<\/a><\/li>\n<li><a href=\"#c6\">\u4e0e\u5e15\u5229\u65af\u7279-\u970d\u5c14\u7efc\u5408\u75c7\u7684\u533a\u522b<\/a><\/li>\n<li><a href=\"#c7\">\u4ea7\u524d\u8bca\u65ad\u4e2d\u7684GCPS\u53ca\u5176\u65b9\u6cd5<\/a><\/li>\n<li><a href=\"#c8\">\u6982\u8981<\/a><\/li>\n<\/ul>\n<\/div>\n<p>\u5148\u5929\u6027\u7578\u5f62\u7efc\u5408\u75c7\u7684\u75c5\u56e0\u591a\u79cd\u591a\u6837\uff0c\u4f46\u591a\u4e3a\u67d3\u8272\u4f53\u6216\u57fa\u56e0\u5f02\u5e38\u6240\u81f4\u3002\u5f04\u6e05\u5f15\u8d77\u5f02\u5e38\u7684\u67d3\u8272\u4f53\u548c\u57fa\u56e0\u975e\u5e38\u91cd\u8981\uff0c\u5982\u679c\u5f04\u6e05\u4e86\u8fd9\u4e9b\uff0c\u5c31\u53ef\u4ee5\u901a\u8fc7\u4ea7\u524d\u8bca\u65ad\u4e2d\u7684\u67d3\u8272\u4f53\u548c\u57fa\u56e0\u7b5b\u67e5\u6765\u505a\u51fa\u8bca\u65ad\u3002<\/p>\n<p>\u8fd9\u6b21\u4ecb\u7ecd\u7684<span class=\"y_marker\">\u683c\u96f7\u683c\u6c0f\u5c16\u5934\u591a\u5e76\u6307\u7efc\u5408\u75c7\uff0c<\/span>\u662f\u7531\u9057\u4f20\u5f02\u5e38\u5f15\u8d77\u7684\u5148\u5929\u6027\u7578\u5f62\u7efc\u5408\u75c7\u4e4b\u4e00\u3002<\/p>\n<h3 id=\"c1\"><span class=\"ez-toc-section\" id=\"%E4%BB%80%E4%B9%88%E6%98%AF%E6%A0%BC%E9%9B%B7%E6%A0%BC%E5%81%8F%E5%BF%83%E5%A4%9A%E6%8C%87%E7%95%B8%E5%BD%A2%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%88GCPS%EF%BC%89%EF%BC%9F\"><\/span>\u4ec0\u4e48\u662f\u683c\u96f7\u683c\u504f\u5fc3\u591a\u6307\u7578\u5f62\u7efc\u5408\u5f81\uff08GCPS\uff09\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u683c\u96f7\u683c\u6c0f\u5c16\u5934\u591a\u5e76\u6307\u7efc\u5408\u75c7\uff08Greig cephalopolysyndactyly syndrome\u3001\u4ee5\u4e0b\u79f0GCPS\uff09\u662f\u5df2\u88ab\u9610\u660e\u539f\u56e0\u57fa\u56e0\u7684\u67d3\u8272\u4f53\u75be\u75c5\u30021926\u5e74\u4e00\u672c\u5173\u4e8e\u8fd9\u79cd\u75be\u75c5\u60a3\u8005\u7684\u4e66\u7684\u4f5c\u8005\uff0cDavid Middleton Greig\u7684\u540d\u5b57\u547d\u540d\u7684\u3002\u00a0<\/p>\n<p>\u8fd9\u79cd\u75be\u75c5\u4e5f\u88ab\u79f0\u4e3a\u300cGreig\u9885\u9aa8\u591a\u5408\u6307\u7efc\u5408\u75c7\u300d\u300cGreig\u8111\u591a\u5408\u6307\u75c7\u300d\uff0c\u4f46\u90fd\u662f\u6307\u540c\u4e00\u75be\u75c5\u3002<\/p>\n<p>\u6839\u636e\u4e00\u4e9b\u6587\u732e\uff0c\u53d1\u751f\u7684<span class=\"y_marker\">\u9891\u7387\u4f30\u8ba1\u4e3a100\u4e07\u4eba\u4e4b1<\/span>\u3002<\/p>\n<h4><span class=\"ez-toc-section\" id=\"%E7%97%85%E4%BE%8B%E4%B8%8E%E8%AF%8A%E6%96%AD\"><\/span>\u75c5\u4f8b\u4e0e\u8bca\u65ad<span class=\"ez-toc-section-end\"><\/span><\/h4>\n<p>\u987e\u540d\u601d\u4e49\uff0c\u5b83\u662f\u4e00\u79cd\u6d89\u53ca\u5927\u8111\u548c\u624b\u6307\u53d8\u5f02\u7684\u75be\u75c5\uff0c<span class=\"y_marker\">\u8bb8\u591a\u60a3\u8005\u6709\u56db\u80a2\u3001\u9762\u90e8\u548c\u5934\u90e8\u7684\u7578\u5f62\u3002<\/span>\u56db\u80a2\u5448\u8f74\u524d\u6027\u591a\u6307\u4f34\u76ae\u80a4\u5e76\u6307\uff0c\u9762\u90e8\u5448\u773c\u95f4\u5206\u79bb\uff0c\u5934\u90e8\u5448\u5927\u5934\u7578\u5f62\u4f34\u524d\u989d\u7a81\u51fa\u3002<\/p>\n<p>\u6b64\u5916\uff0c\u4f46\u5e76\u4e0d\u5e38\u89c1\uff0c\u4e2d\u67a2\u795e\u7ecf\u7cfb\u7edf\u5f02\u5e38\u548c\u8ba4\u77e5\u969c\u788d\u4e5f\u6709\u62a5\u9053\u3002\u00a0<\/p>\n<p>\u5728\u4e34\u5e8a\u4e0a\u8bca\u65ad\u8fd9\u79cd\u75be\u75c5\u6709\u4e9b\u56f0\u96be\u3002\u8fd9\u662f\u56e0\u4e3a\u591a\u6307\u7578\u5f62\u53ef\u80fd\u6765\u6e90\u4e8e\u5176\u4ed6\u75be\u75c5\uff0c\u773c\u5206\u79bb\u7684\u5224\u65ad\u6709\u5206\u6b67\uff0c\u53d1\u75c5\u90e8\u4f4d\u56e0\u4eba\u800c\u5f02\u3002\u5982\u679c\u5177\u5907\u4ee5\u4e0a\u5e38\u8bf4\u76843\u4e2a\u7279\u75c7\uff0c\u4f3c\u4e4e\u6709\u5f88\u591a\u60c5\u51b5\u4e0b\u53ef\u4ee5\u505a\u51faGCPS\u7684\u4e34\u65f6\u8bca\u65ad\u3002<\/p>\n<h4><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%96%97%E4%B8%8E%E9%A2%84%E5%90%8E\"><\/span>\u6cbb\u7597\u4e0e\u9884\u540e<span class=\"ez-toc-section-end\"><\/span><\/h4>\n<p>\u7531\u4e8e\u6cbb\u7597\u662f\u5bf9\u75c7\u7684\uff0c\u8fd9\u53d6\u51b3\u4e8e\u75be\u75c5\u7684\u72b6\u51b5\u3002\u5728\u67d0\u4e9b\u60c5\u51b5\u4e0b\uff0c\u5982\u679c\u80a2\u4f53\u7578\u5f62\u4e25\u91cd\uff0c\u53ef\u80fd\u9700\u8981\u8fdb\u884c\u9aa8\u79d1\u624b\u672f\u3002<\/p>\n<p>\u9884\u540e\u901a\u5e38\u975e\u5e38\u597d\uff0c\u4f46\u7531\u4e8e\u5982\u4e0a\u6240\u8ff0\uff0c\u8be5\u75be\u75c5\u5bfc\u81f4\u53d1\u80b2\u8fdf\u7f13\u548c\u8ba4\u77e5\u969c\u788d\u7684\u98ce\u9669\u7565\u6709\u589e\u52a0\uff0c\u8fd9\u53ef\u80fd\u6d89\u53ca\u795e\u7ecf\u7cfb\u7edf\u5f02\u5e38\u3002<\/p>\n<p>\u6cbb\u7597\u540e\u7684\u9884\u540e\u8fd8\u53d6\u51b3\u4e8eGLI3\u57fa\u56e0\u7f3a\u5931\u4f4d\u70b9\u7684\u5927\u5c0f\uff0c\u6709\u62a5\u9053\u79f0\u7f3a\u5931\u4f4d\u70b9\u5927\u65f6\u9884\u540e\u8f83\u5dee\u3002<\/p>\n<p>\u4e0e\u4efb\u4f55\u9057\u4f20\u75be\u75c5\u4e00\u6837\uff0c\u4ece\u6839\u672c\u4e0a\u6cbb\u6108\u75be\u75c5\u662f\u6781\u5176\u56f0\u96be\u7684\u3002\u4f46\u662f\uff0c\u76ee\u524d\u6b63\u5728\u5f00\u53d1\u7684\u6280\u672f\u53ef\u4ee5\u4f5c\u4e3a\u9057\u4f20\u75be\u75c5\u7684\u57fa\u672c\u6cbb\u7597\u65b9\u6cd5\u3002\u8fd9\u662f\u4e00\u79cd\u79f0\u4e3a<span class=\"y_marker\">\u57fa\u56e0\u7ec4\u7f16\u8f91<\/span>\u7684\u6280\u672f\u3002\u57fa\u56e0\u7ec4\u7f16\u8f91\u662f\u4e00\u79cd\u4f7f\u7528\u79f0\u4e3a\u5411\u5bfc\u7684RNA\u4e0e\u5207\u65adDNA\u7684\u526a\u5200\uff08\u9650\u5236\u6027\u9176\uff09\u5207\u5272DNA\u4ee5\u7f16\u8f91\u60f3\u8981\u7f16\u8f91\u7684\u57fa\u56e0\u7ec4\u90e8\u5206\u7684\u6280\u672f\u3002\u7136\u800c\uff0c\u5b83\u5728\u533b\u5b66\u4e0a\u7684\u5e94\u7528\u4ecd\u5904\u4e8e\u8d77\u6b65\u9636\u6bb5\uff0c\u6b64\u5916\uff0c\u7531\u4e8e\u5207\u65ad\u975e\u76ee\u6807\u57fa\u56e0\u7684\u90e8\u5206\u4f1a\u4ea7\u751f\u8131\u9776\u6548\u5e94\uff0c\u9884\u8ba1\u8fd9\u9879\u6280\u672f\u5728\u672a\u6765\u4f1a\u4ece\u591a\u4e2a\u9886\u57df\u5f97\u5230\u53d1\u5c55\u3002<\/p>\n\n    <a href=\"\/nipt\/cost-prenatal-testing\/?lang=zh-hans\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u51fa\u751f\u524d\u8a3a\u65ad\u306b\u304b\u304b\u308b\u8cbb\u7528\u306e\u307e\u3068\u3081\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u65e9\u671f\u51fa\u751f\u524d\u8a3a\u65ad(\u3057\u3085\u3063\u305b\u3044\u307e\u3048\u3057\u3093\u3060\u3093)\u306f\u3044\u304f\u3089\u3059\u308b\u306e\uff1f\u7d68\u6bdb\u691c\u67fb\u30fb\u7f8a\u6c34\u691c\u67fb\u30fb\u30a8\u30b3\u30fc\u691c\u67fb\u30fb\u6bcd\u4f53\u8840\u6e05\u30de\u30fc\u30ab\u30fc\u691c\u67fb\u306e\u305d\u308c\u305e\u308c\u306e\u8cbb\u7528\u3084\u3001NIPT(\u65b0...<\/div>\n      <\/div>\n    <\/a>\n<h3 id=\"c2\"><span class=\"ez-toc-section\" id=\"GCPS%E5%8F%91%E7%94%9F%E7%9A%84%E5%8E%9F%E5%9B%A0%EF%BC%8C%E6%98%AF%E7%94%B1%E4%BA%8EGLI3%E5%9F%BA%E5%9B%A0%E7%9A%84%E9%83%A8%E5%88%86%E7%BC%BA%E5%A4%B1\"><\/span>GCPS\u53d1\u751f\u7684\u539f\u56e0\uff0c\u662f\u7531\u4e8eGLI3\u57fa\u56e0\u7684\u90e8\u5206\u7f3a\u5931<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>1997\u5e74\u7684\u4e00\u9879\u7814\u7a76\u8868\u660e\uff0cGCPS\u662f\u7531\u57fa\u56e0GLI3\uff08GLI-Kruppel family member 3\u3001\u8f6c\u5f55\u56e0\u5b50\u80f6\u8d28\u6bcd\u7ec6\u80de\u76243\uff09\u7684\u57fa\u56e0\u4e2d\u7684\u529f\u80fd\u4e27\u5931\u7a81\u53d8\u5f15\u8d77\u7684\u3002<\/p>\n<p>GLI3\u7684\u90e8\u5206\u57fa\u56e0\u7684\u7f3a\u5931\u5bfc\u81f4<span class=\"y_marker\">\u8be5\u57fa\u56e0\u539f\u6709\u529f\u80fd\u7684\u4e27\u5931\uff0c\u4ece\u800c\u5bfc\u81f4\u75be\u75c5\u7684\u53d1\u4f5c\u3002<\/span>GLI3\u57fa\u56e0\u4f4d\u4e8e\u67d3\u8272\u4f53\u300c7p14.1\u300d\u3002<\/p>\n<p>\u7f3a\u5931\u7684\u5927\u5c0f\u548c\u4f4d\u7f6e\u56e0\u4eba\u800c\u5f02\uff0c\u751a\u81f3\u5728\u540c\u4e00GCPS\u7684\u75c5\u4eba\u4e2d\u4e5f\u662f\u5982\u6b64\u3002\u6b64\u5916\uff0c\u8fd8\u6709\u4e00\u79cd\u75be\u75c5\uff08Pallister-Hall\u7efc\u5408\u75c7\uff09\uff0c\u662f\u7531\u540c\u4e00GLI3\u57fa\u56e0\u7f3a\u5931\u5f15\u8d77\u7684\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n<h4><span class=\"ez-toc-section\" id=\"%E4%B8%BA%E4%BB%80%E4%B9%88GLI3%E5%9F%BA%E5%9B%A0%E7%9A%84%E7%BC%BA%E5%A4%B1%E4%BC%9A%E5%AF%BC%E8%87%B4GCPS\"><\/span>\u4e3a\u4ec0\u4e48GLI3\u57fa\u56e0\u7684\u7f3a\u5931\u4f1a\u5bfc\u81f4GCPS<span class=\"ez-toc-section-end\"><\/span><\/h4>\n<p>\u90a3\u4e48\uff0c\u5728GCPS\u4e2d\u53d1\u751f\u529f\u80fd\u4e27\u5931\u7684GLI3\u57fa\u56e0\u7684\u539f\u59cb\u4f5c\u7528\u662f\u4ec0\u4e48\u3002<\/p>\n<p>\u5b8c\u6574\u7684\u60c5\u51b5\u4ecd\u7136\u672a\u77e5\uff0c\u4f46\u5df2\u77e5GLI3\u57fa\u56e0\u5728\u86cb\u767d\u8d28\u7684\u5f62\u6001\u5f62\u6210\u4e2d\u8d77\u7740\u5173\u952e\u4f5c\u7528\uff0c\u53c2\u4e0e\u4e86Sonic hedgehog, \u4ee5\u4e0b\u79f0Shh\uff09\u7684\u529f\u80fd\u3002<\/p>\n<p>Shh\u662f\u4e00\u79cd\u7ec6\u80de\u5916\u4fe1\u53f7\u56e0\u5b50\uff08\u86cb\u767d\u8d28\uff09\uff0c\u53c2\u4e0e\u80da\u80ce\u53d1\u80b2\u8fc7\u7a0b\u4e2d\u7684\u7ec6\u80de\u5206\u5316\u548c\u80a2\u4f53\u53d1\u80b2\u3002GLI3\u57fa\u56e0\u5df2\u88ab\u8bc1\u660e\u53ef\u4f5c\u4e3a\u8fd9\u79cdShh\u8f6c\u5f55\u7684\u538b\u5236\u56e0\u5b50\u3002 \u8fd9\u610f\u5473\u7740GLI3\u57fa\u56e0\u7684\u7a81\u53d8\u4f1a\u5bfc\u81f4Shh\u86cb\u767d\u8868\u578b\u589e\u5f3a\uff0c\u4ece\u800c\u5f71\u54cd\u5230\u5f62\u6001\u53d1\u751f\u3002GLI3\u53d1\u73b0\u7684\u533a\u57df\u4e5f\u652f\u6301\u5176\u529f\u80fd\uff0cGLI3\u7684\u8868\u8fbe\u53d1\u73b0\u533a\u57df\u8fdc\u79bbShh\u7684\u533a\u57df\uff0c\u5728\u80a2\u82bd\uff08\u5206\u5316\u6210\u80a2\u4f53\u7684\u7ec6\u80de\uff09\u7684\u524d\u9762\u548c\u795e\u7ecf\u7ba1\u7684\u80cc\u9762\u3002<\/p>\n<p>Sonic Hedgehog\u4fe1\u53f7\u901a\u8def\uff08\u4ee5Shh\u4e3a\u4e2d\u5fc3\u7684\u4fe1\u53f7\u901a\u8def\uff09\u6709\u591a\u79cd\u9014\u5f84\uff0cGLI3\u53c2\u4e0ePtc-Smo-Gli\u9014\u5f84\uff0c\u8be5\u9014\u5f84\u6d89\u53ca\u819c\u86cb\u767dPtc\u548cSmo\uff0c\u4ee5\u53caGLI\u5bb6\u65cf\uff08GLI1\u81f3GLI3\uff09\u3002 \u8fd9\u4e9b\u4fe1\u53f7\u9014\u5f84\u5df2\u88ab\u8bc1\u660e\u5728\u53d1\u80b2\u8fc7\u7a0b\u4e2d\u5145\u5f53\u4e86\u6700\u91cd\u8981\u7684\u5f62\u6001\u57fa\u56e0\u3002<\/p>\n<p>\u5bf9GLI3\u7684\u7814\u7a76\uff0c\u4e5f\u5728\u9664\u4e86\u9488\u5bf9GCPS\u7684\u7814\u7a76\u5916\uff0c\u5728\u5173\u4e8eSonic Hedgehog\u7684\u7814\u7a76\u4e0a\uff0c\u4e5f\u6b63\u5728\u5bf9\u4e0b\u4e18\u8111\u9519\u6784\u7624\u8fdb\u884c\u7814\u7a76\uff0c\u8be5\u9519\u6784\u7624\u4f1a\u5bfc\u81f4\u8010\u836f\u6027\u766b\u75eb\u53d1\u4f5c\u3002<\/p>\n<p>\u6211\u4eec<span class=\"y_marker\">\u671f\u5f85\u7740\u8fdb\u4e00\u6b65\u7684\u7814\u7a76\uff0c\u56e0\u4e3a\u5b83\u5c06\u4f7f\u6211\u4eec\u66f4\u63a5\u8fd1\u4e8e\u4e86\u89e3\u8be5\u57fa\u56e0\u7684\u7a81\u53d8\u8bf1\u53d1\u5f62\u6001\u5f02\u5e38\uff0c\u5373\u7578\u5f62\u7684\u673a\u5236\u3002<\/span><\/p>\n<p style=\"width:100%;max-width:300px;margin:0 auto;\"><a href=\"\/nipt\/\" class=\"content-bnr about\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/themes\/hiro_nipt\/img\/banner\/nipt04pc.png\" alt=\"\u80ce\u5150\u306e\u6027\u5225\u306f10\u9031\u76ee\u3067\u308f\u304b\u308b\"><\/a> <\/p>\n<h3 id=\"c3\"><span class=\"ez-toc-section\" id=\"%E6%9F%93%E8%89%B2%E4%BD%93%E7%BC%BA%E5%A4%B1%E4%BD%8D%E7%BD%AE%E3%80%8C7p141%E3%80%8D%E6%98%AF%E4%BB%80%E4%B9%88\"><\/span>\u67d3\u8272\u4f53\u7f3a\u5931\u4f4d\u7f6e\u300c7p14.1\u300d\u662f\u4ec0\u4e48<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u8ba9\u6211\u89e3\u91ca\u4e00\u4e0b\u5bfc\u81f4GCPS\u7684\u67d3\u8272\u4f53\u7f3a\u5931\u4f4d\u70b9\u300c7p14.1\u300d\u7684\u542b\u4e49\u3002<\/p>\n<p>\u5982\u4e0a\u6240\u8ff0\uff0cGLI3\u57fa\u56e0\u4f4d\u4e8e\u8be5\u4f4d\u7f6e\u3002\u300c7p14.1\u300d\u662f\u6307\u793a\u7f3a\u5931\u4f4d\u4e8e\u54ea\u6761\u67d3\u8272\u4f53\u4e0a\u7684\u4fe1\u606f\u3002\u4e3a\u6b64\uff0c\u6211\u4eec\u9996\u5148\u9700\u8981\u4e86\u89e3\u67d3\u8272\u4f53\u7f16\u53f7\u7684\u89c4\u5219\u3002\u00a0<\/p>\n<p><span class=\"y_marker\">\u9996\u5148\uff0c\u4eba\u7c7b\u670922\u5bf9(44\u6761)\u5e38\u67d3\u8272\u4f53\u3002\u6bcf\u4e00\u4e2a\u90fd\u4ece1\u523022\u7f16\u53f7<\/span>\u3002\u8fd9\u662f\u5934\u90e8\u7684\u6570\u5b57\uff0c\u5373\u300c7p14.1\u300d\u8868\u793a7\u53f7\u67d3\u8272\u4f53\u3002<\/p>\n<p>\u53e6\u5916\uff0c\u67d3\u8272\u4f53\u53c8\u957f\u53c8\u7ec6\uff0c\u6709\u4e00\u4e2a\u53eb\u505a\u4e2d\u5fc3\u7c92\u7684 &#8220;\u9888\u90e8&#8221;\u3002 \u8fd9\u5c06\u67d3\u8272\u4f53\u5206\u4e3a\u77ed\u81c2\uff08p\uff09\u548c\u957f\u81c2\uff08q\uff09\uff0c\u5199\u6210\u8fd9\u79cd\u7b26\u53f7\u3002\u6240\u4ee5&#8217;7p14.1&#8217;\u662f\u5728\u77ed\u81c2\u4e0a\uff0c\u56e0\u4e3a\u5b83\u662f\u4e00\u4e2ap\u3002<\/p>\n<p>\u540e\u9762\u7684\u6570\u5b57\u8868\u793a\uff0c\u4ece\u6700\u9760\u8fd1\u4e2d\u592e\u7c92\u7684\u987a\u5e8f\u5206\u914d\u7684\u6570\u5b57\u3002\u5b83\u4eec\u6839\u636e\u67d3\u8272\u4f53\u67d3\u8272\u65f6\u53ef\u4ee5\u770b\u5230\u7684\u6761\u7eb9\u56fe\u6848\uff08\u6761\u5e26\uff09\u8fdb\u884c\u7f16\u53f7\u3002<\/p>\n<p>\u6362\u53e5\u8bdd\u8bf4\uff0c\u300c7p14.1\u300d\u610f\u5473\u7740\u5b83\u4f4d\u4e8e7\u53f7\u67d3\u8272\u4f53p\uff08\u77ed\u81c2\uff09\u768414.1\u533a\u57df\u3002\u00a0<\/p>\n\n    <a href=\"\/nipt\/klinefelter-syndrome\/?lang=zh-hans\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30af\u30e9\u30a4\u30f3\u30d5\u30a7\u30eb\u30bf\u30fc\u75c7\u5019\u7fa4\uff0847,XXY\uff09\u3068\u306f\uff1f\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u30af\u30e9\u30a4\u30f3\u30d5\u30a7\u30eb\u30bf\u30fc\u75c7\u5019\u7fa4\u3068\u306f\u3001\u7537\u306e\u5b50\u306b\u307f\u3089\u308c\u308b\u67d3\u8272\u4f53\u7570\u5e38\u306e\u3053\u3068\u3067\u3059\u3002\u6027\u67d3\u8272\u4f53\u3067\u3042\u308bX\u67d3\u8272\u4f53\u306e\u904e\u5270\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u30af...<\/div>\n      <\/div>\n    <\/a>\n<h3 id=\"c4\"><span class=\"ez-toc-section\" id=\"%E6%9F%93%E8%89%B2%E4%BD%93%EF%BC%88%E5%9F%BA%E5%9B%A0%EF%BC%89%E7%9A%84%E7%BC%BA%E5%A4%B1%E6%98%AF%E4%BB%80%E4%B9%88\"><\/span>\u67d3\u8272\u4f53\uff08\u57fa\u56e0\uff09\u7684\u7f3a\u5931\u662f\u4ec0\u4e48<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u6211\u4eec\u4ee5\u524d\u66fe\u4ecb\u7ecd\u8fc7\uff0cGCPS\u662f\u7531\u4e8eGLI3\u57fa\u56e0\u90e8\u5206\u7f3a\u5931\u9020\u6210\u7684\uff0c\u4f46\u7f3a\u5931\u5230\u5e95\u662f\u4ec0\u4e48\u3002<\/p>\n<p>\u5728\u6b64\u4e4b\u524d\uff0c\u9057\u4f20\u6027\u75be\u75c5\u5927\u81f4\u5206\u4e3a\u67d3\u8272\u4f53\u5f02\u5e38\u548c\u57fa\u56e0\u5f02\u5e38\u3002\u67d3\u8272\u4f53\u5f02\u5e38\u662f\u6307\u5728\u5e94\u8be5\u67092\u6761\u53731\u5bf9\u67d3\u8272\u4f53\u7684\u60c5\u51b5\u4e0b\uff0c\u67093\u6761\u67d3\u8272\u4f53\u6216\u7f3a\u5c111\u6761\u3002\u5178\u578b\u7684\u4f8b\u5b50\u662f\uff0c\u6240\u8c13\u7684<span class=\"y_marker\">\u5510\u6c0f\u7efc\u5408\u75c7\uff0821\u4e09\u4f53\u7efc\u5408\u75c7\u300121\u53f7\u67d3\u8272\u4f53\u67093\u6761\uff0c\u5373\u67d3\u8272\u4f53\u91cd\u590d\uff09<\/span>\u3002\u53e6\u4e00\u65b9\u9762\uff0c\u57fa\u56e0\u5f02\u5e38\u4e0d\u662f\u6574\u4e2a\u67d3\u8272\u4f53\uff0c\u800c\u662f\u67d3\u8272\u4f53\u7684\u4e00\u90e8\u5206\u7f3a\u5931\u6216\u91cd\u590d\u3002<\/p>\n<p>GCPS\u662f\u4e00\u79cd\u9057\u4f20\u75be\u75c5\uff0c\u5176\u4e2d7\u53f7\u67d3\u8272\u4f53\u4e0a\u7684GLI3\u57fa\u56e0\u7684\u4e00\u90e8\u5206\u7f3a\u5931\u3002\u7136\u800c\uff0c\u4e8b\u5b9e\u4e0a\uff0c\u5df2\u77e5\u7f3a\u5931\u4f4d\u70b9\u7684\u5927\u5c0f\u56e0\u60a3\u8005\u800c\u5f02\uff0c\u5373\u4f7f\u5728\u76f8\u540c\u7684 GCPS \u75c5\u4f8b\u4e2d\u4e5f\u662f\u5982\u6b64\u3002\u4f46\u662f\uff0c\u7531\u4e8eGCPS\u662f\u7531GLI3\u57fa\u56e0\u529f\u80fd\u4e27\u5931\u5f15\u8d77\u7684\uff0c\u56e0\u6b64\u7f3a\u5931\u4f4d\u70b9\u5927\u5c0f\u4e0d\u4e00\u662f\u6beb\u65e0\u7591\u95ee\u7684\uff0c\u4f46\u7f3a\u5931\u8db3\u4ee5\u4f7fGLI3\u57fa\u56e0\u529f\u80fd\u4e27\u5931\u3002<\/p>\n<p>\u6709\u4eba\u53ef\u80fd\u4f1a\u60f3\u8c61\u5bfc\u81f4 GLI3 \u57fa\u56e0\u65e0\u6cd5\u64cd\u4f5c\u7684\u7f3a\u5931\u4e0d\u4f1a\u662f\u5355\u4e2a\u78b1\u57fa\uff0c\u4f46\u60c5\u51b5\u4e0d\u4e00\u5b9a\u5982\u6b64\u3002\u8fd9\u662f\u56e0\u4e3a\u5355\u78b1\u57fa\u7f3a\u5931\u4f1a\u5bfc\u81f4\u79fb\u7801\u7a81\u53d8\u3002\u79fb\u7801\u7a81\u53d8\u662f\u7531\u4e8e\u78b1\u57fa\u7684\u7f3a\u5931\u6216\u63d2\u5165\u800c\u4f7f\u5bc6\u7801\u5b50\uff08\u6240\u8c13\u7684\u4e09\u8054\u4f53\u5bc6\u7801\uff09\u53d1\u751f\u79fb\u4f4d\uff0c\u6c28\u57fa\u9178\u4e0d\u6309\u7167\u9057\u4f20\u5bc6\u7801\u5408\u6210\u7684\u7a81\u53d8\u3002<\/p>\n<p>\u4e8b\u5b9e\u4e0a\uff0c\u4e5f\u6709\u62a5\u9053\u79f0\u540c\u6837\u662f\u7531GLI3\u57fa\u56e0\u529f\u80fd\u4e27\u5931\u5f15\u8d77\u7684Pallister-Hall\u7efc\u5408\u5f81\u5c31\u662f\u7531\u8fd9\u79cd\u79fb\u7801\u5f15\u8d77\u7684\u3002<\/p>\n<p>\u67d3\u8272\u4f53\u6216\u57fa\u56e0\u7f3a\u5931\u662f\u4efb\u4f55\u4eba\u90fd\u53ef\u80fd\u53d1\u751f\u7684\u73b0\u8c61\u3002<span class=\"y_marker\">\u4f46\u662f\uff0c\u5982\u679c\u8be5\u90e8\u5206\u57fa\u56e0\u5bf9\u4eba\u7c7b\u751f\u5b58\u81f3\u5173\u91cd\u8981\uff0c\u90a3\u4e48\u5b83\u751a\u81f3\u53ef\u80fd\u4e0d\u4f1a\u51fa\u751f\u5e76\u53ef\u80fd\u5bfc\u81f4\u6d41\u4ea7\u3002 \u5373\u4f7f\u662f\u751f\u4e0b\u6765\uff0c\u4e5f\u53ef\u80fd\u5bfc\u81f4\u51fa\u751f\u7f3a\u9677\u3002<\/span><\/p>\n<p>\u5728 GCPS \u4e2d\uff0c\u53ea\u6709\u5c11\u6570\u60a3\u8005\u53d1\u751f\u70b9\u7a81\u53d8\u7684\u62a5\u9053\uff0c\u4f46\u8bb8\u591a\u60a3\u8005\u7684\u7a81\u53d8\u533a\u57df\u6bd4 GLI3 \u57fa\u56e0\u533a\u57df\u5185\u7684\u5355\u78b1\u57fa\u7f3a\u5931\uff08\u70b9\u7a81\u53d8\uff09\u66f4\u5e7f\u3002\u4f3c\u4e4e\u662f\u8fd9\u6837\u3002<\/p>\n<h3><span class=\"ez-toc-section\" id=\"%E5%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93%E6%98%BE%E6%80%A7%E5%92%8C%E5%8D%95%E5%80%8D%E4%BD%93%E4%B8%8D%E8%B6%B3\"><\/span>\u5e38\u67d3\u8272\u4f53\u663e\u6027\u548c\u5355\u500d\u4f53\u4e0d\u8db3<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u4eba\u7c7b\u7684\u67d3\u8272\u4f53\u662f\u75312\u6761\u67d3\u8272\u4f53\u7ec4\u6210\u76841\u7ec4\u3002\u8fd92\u6761\u67d3\u8272\u4f53\u4f1a\u4f20\u7ed9\u5b69\u5b50\uff0c1\u6761\u6765\u81ea\u7236\u4eb2\uff0c1\u6761\u6765\u81ea\u6bcd\u4eb2\u3002\u8fd9\u610f\u5473\u7740\uff0c\u5982\u679c\u7236\u4eb2\u6216\u6bcd\u4eb2\u76841\u6761\u67d3\u8272\u4f53\u53d1\u751fGLI3\u57fa\u56e0\u7f3a\u5931\uff0c\u53e61\u6761\u67d3\u8272\u4f53\u7684GLI3\u57fa\u56e0\u53ef\u80fd\u4e0d\u4f1a\u53d1\u751f\u7a81\u53d8\u3002\u5728\u8fd9\u79cd\u60c5\u51b5\u4e0b\uff0c\u662f\u5426\u8fd8\u4f1a\u53d1\u751fGCPS\u3002<\/p>\n<p><span class=\"y_marker\">\u4e0d\u5e78\u7684\u662f\uff0c\u5982\u679c\u7236\u6bcd\u4efb\u4f55\u4e00\u65b9\u7684\u57fa\u56e0\u4e2d\u5b58\u5728\u5bfc\u81f4GCPS\u7684GLI3\u57fa\u56e0\u7f3a\u5931\uff0c\u800c\u5b69\u5b50\u7ee7\u627f\u4e86\u8be5\u67d3\u8272\u4f53\uff0c\u5b69\u5b50\u4e5f\u4f1a\u60a3\u4e0aGCPS\u3002<\/span><\/p>\n<p>\u90a3\u4e48\uff0c\u4e3a\u4ec0\u4e48\u53e6\u4e00\u4e2a\u5e94\u8be5\u662f\u5b8c\u6574\u7684GLI3\u57fa\u56e0\u6ca1\u6709\u53d1\u6325\u4f5c\u7528\u5462\uff1f\u8fd9\u4e2a\u95ee\u9898\u53ef\u4ee5\u7528\u5e38\u67d3\u8272\u4f53\u663e\u6027\u548c\u5355\u500d\u4f53\u4e0d\u8db3\u7684\u73b0\u8c61\u6765\u89e3\u91ca\u3002<\/p>\n<p>\u4e00\u822c\u6765\u8bf4\uff0c\u5373\u4f7f2\u6761\u67d3\u8272\u4f53\u4e2d\u53ea\u67091\u6761\u53d1\u751f\u7a81\u53d8\uff0c\u5982\u679c\u53e61\u6761\u67d3\u8272\u4f53\u7684\u529f\u80fd\u4fdd\u6301\u5b8c\u6574\uff0c\u75be\u75c5\u5c31\u4e0d\u4f1a\u53d1\u5c55\u3002\u7136\u800c\uff0cGLI3\u57fa\u56e0\u662f\u4e00\u79cd\u503e\u5411\u4e8e\u8868\u73b0\u51fa1\u4e2a\u57fa\u56e0\u7279\u5f81\u7684\u57fa\u56e0\uff0c\u51fa\u73b0\u7a81\u53d8\u57fa\u56e0\u7684\u7279\u5f81\u3002\u6362\u53e5\u8bdd\u8bf4\uff0c\u5373\u4f7f\u4e24\u6761\u67d3\u8272\u4f53\u662f\u6742\u5408\u7684\uff081\u6761\u5e26\u6709GLI3\u7a81\u53d8\uff0c1\u6761\u6ca1\u6709GLI3\u7a81\u53d8\uff09\uff0c\u5e26\u6709\u7a81\u53d8\u7684\u5f02\u5e38\u67d3\u8272\u4f53\u4e5f\u4f1a\u6210\u4e3a\u201c\u663e\u6027\u201d\u5e76\u5bfc\u81f4\u75be\u75c5\u3002\u8fd9\u79f0\u4e3a\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\u3002<\/p>\n<p>\u6b64\u5916\uff0c\u5728\u6742\u5408\u72b6\u6001\u4e0b\u89c2\u5bdf\u5230\u529f\u80fd\u969c\u788d\u72b6\u6001\u7684\u8fd9\u79cd\u73b0\u8c61\uff0c\u88ab\u79f0\u4e3a\u5355\u500d\u4f53\u4e0d\u8db3\u3002<\/p>\n<p>\u5728\u8fd9\u79cd\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\u75c5\u4f8b\u4e2d\uff0c\u5982\u679c\u7236\u6bcd\u4e2d\u7684\u4efb\u4f55\u4e00\u65b9\u60a3\u6709 GCPS \u75be\u75c5\uff0c\u5219\u540e\u4ee3\u6709 50% \u7684\u673a\u4f1a\u5177\u6709\u76f8\u540c\u7684\u8868\u578b\u5e76\u60a3\u4e0a\u76f8\u540c\u7684\u75be\u75c5\u3002<\/p>\n<h3><span class=\"ez-toc-section\" id=\"%E4%B8%8E%E5%B8%95%E5%88%A9%E6%96%AF%E7%89%B9-%E9%9C%8D%E5%B0%94%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E5%8C%BA%E5%88%AB\"><\/span>\u4e0e\u5e15\u5229\u65af\u7279-\u970d\u5c14\u7efc\u5408\u75c7\u7684\u533a\u522b<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u5e15\u5229\u65af\u7279-\u970d\u5c14\u7efc\u5408\u75c7\uff08Pallister-Hall Syndrome\u3001\u4ee5\u4e0b\u79f0PHS\uff09\u662f\u53e6\u4e00\u79cd\u7531GLI3\u57fa\u56e0\u7f3a\u5931\u5f15\u8d77\u7684\u5148\u5929\u6027\u7578\u5f62\u7efc\u5408\u75c7\uff0c\u4e0eGCPS\u76f8\u540c\u3002<\/p>\n<p>PHS\u4e0eGCPS\u76f8\u540c\u7684\u4e34\u5e8a<span class=\"y_marker\">\u7279\u5f81\u662f\u56db\u80a2\u3001\u5934\u90e8\u548c\u9762\u90e8\u7684\u7578\u5f62\u3002<\/span>\u4e0d\u540c\u7684\u662f\uff0cGCPS\u7684\u5927\u591a\u6570\u591a\u6307\u75c7\u75c5\u4f8b\u662f\u8f74\u524d\u578b\u7684\uff08\u591a\u6307\u75c7\u6709\u66f4\u591a\u7684\u62c7\u6307\uff09\uff0c\u800cPHS\u662f\u4e2d\u592e\u578b\u7684\uff08\u591a\u6307\u75c7\u6709\u66f4\u591a\u7684\u98df\u6307\u5230\u65e0\u540d\u6307\uff09\u6216\u8f74\u540e\u578b\u7684\uff08\u66f4\u591a\u7684\u5c0f\u6307\uff09\u3002\u7136\u800c\uff0c\u7531\u4e8eGCPS\u6709\u8f74\u540e\u591a\u6307\u7684\u75c5\u4f8b\uff0c\u800c\u4e14\u8fd8\u6709\u5176\u4ed6\u5df2\u77e5\u7684\u5177\u6709\u7c7b\u4f3c\u75c5\u4f8b\u7684\u9057\u4f20\u6027\u75be\u75c5\uff0c\u6240\u4ee5\u5f88\u96be\u4ece\u8fd9\u4e9b\u4e34\u5e8a\u75c5\u4f8b\u4e2d\u786e\u5b9a\uff0c\u901a\u5e38\u4ece\u9057\u4f20\u5b66\u89d2\u5ea6\u8fdb\u884c\u8bca\u65ad\uff0c\u5982\u901a\u8fc7\u89c2\u5bdfGLI3\u57fa\u56e0\u7684\u7f3a\u5931\u90e8\u4f4d\u3002<\/p>\n\n    <a href=\"\/nipt\/nipt-risk\/?lang=zh-hans\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u51fa\u751f\u524d\u8a3a\u65ad\u306b\u30ea\u30b9\u30af\u306f\u3042\u308b\u306e\uff1f\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u8fd1\u5e74\u3001\u53d7\u691c\u3057\u3066\u3044\u308b\u4eba\u304c\u5897\u3048\u3066\u3044\u308bNIPT(\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad)\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001NIPT\u306e\u7279\u5fb4\u3084\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002...<\/div>\n      <\/div>\n    <\/a>\n<h3><span class=\"ez-toc-section\" id=\"%E4%BA%A7%E5%89%8D%E8%AF%8A%E6%96%AD%E4%B8%AD%E7%9A%84GCPS%E5%8F%8A%E5%85%B6%E6%96%B9%E6%B3%95\"><\/span>\u4ea7\u524d\u8bca\u65ad\u4e2d\u7684GCPS\u53ca\u5176\u65b9\u6cd5<span 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