{"id":85443,"date":"2024-11-14T14:22:01","date_gmt":"2024-11-14T05:22:01","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q36-3-duplication-syndrome\/"},"modified":"2025-08-22T16:54:40","modified_gmt":"2025-08-22T07:54:40","slug":"7q36-3-duplication-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q36-3-duplication-syndrome\/?lang=zh-hans","title":{"rendered":"7q36.3\u5fae\u5c0f\u91cd\u8907\u7efc\u5408\u75c7"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p>7q36.3\u306e\u5fae\u5c0f\u91cd\u8907\u306f\u3001\u907a\u4f1d\u5b50\u8abf\u7bc0\u56e0\u5b50\u3068\u3057\u3066\u91cd\u8981\u306aZRS\u9818\u57df\u3092\u542b\u307f\u3001Sonic hedgehog\uff08SHH\uff09\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u7570\u5e38\u3092\u901a\u3058\u3066\u56db\u80a2\u5f62\u6210\u3084\u81d3\u5668\u767a\u751f\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u3059\u3002\u3053\u306e\u7570\u5e38\u306fTPT-PS\u3084\u8907\u5408\u7684\u306a\u5148\u5929\u6027\u75be\u60a3\u306b\u95a2\u9023\u4ed8\u3051\u3089\u308c\u3066\u304a\u308a\u3001\u8ffd\u52a0\u306e\u907a\u4f1d\u7684\u8981\u56e0\u306e\u53ef\u80fd\u6027\u3082\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u3053\u306e\u5fae\u5c0f\u91cd\u8907\u304c\u81d3\u5668\u3084\u5f62\u614b\u5f62\u6210\u306b\u4e0e\u3048\u308b\u5f71\u97ff\u3092\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p><\/div>\n\n\n\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 ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q36-3-duplication-syndrome\/?lang=zh-hans\/#7q363%E5%BE%AE%E5%B0%8F%E9%87%8D%E5%A4%8D%E4%B8%8E%E7%9B%B8%E5%85%B3%E7%96%BE%E7%97%85\" >7q36.3\u5fae\u5c0f\u91cd\u590d\u4e0e\u76f8\u5173\u75be\u75c5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q36-3-duplication-syndrome\/?lang=zh-hans\/#7q363%E4%B8%8ETriphalangeal_Thumb-Polysyndactyly_Syndrome%EF%BC%88TPT-PS%EF%BC%89\" >7q36.3\u4e0eTriphalangeal Thumb-Polysyndactyly Syndrome\uff08TPT-PS\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q36-3-duplication-syndrome\/?lang=zh-hans\/#%E5%BF%83%E8%A1%80%E7%AE%A1%E7%96%BE%E7%97%85%E4%B8%8E%E7%9C%BC%E9%83%A8%E5%BC%82%E5%B8%B8%E7%9A%84%E4%BE%8B%E5%A4%96%E7%97%85%E4%BE%8B\" >\u5fc3\u8840\u7ba1\u75be\u75c5\u4e0e\u773c\u90e8\u5f02\u5e38\u7684\u4f8b\u5916\u75c5\u4f8b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q36-3-duplication-syndrome\/?lang=zh-hans\/#SHH%E4%BF%A1%E5%8F%B7%E4%BC%A0%E5%AF%BC%E7%9A%84%E4%BD%9C%E7%94%A8%E5%8F%8A%E5%85%B6%E5%B9%BF%E6%B3%9B%E5%BD%B1%E5%93%8D\" >SHH\u4fe1\u53f7\u4f20\u5bfc\u7684\u4f5c\u7528\u53ca\u5176\u5e7f\u6cdb\u5f71\u54cd<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q36-3-duplication-syndrome\/?lang=zh-hans\/#%E5%85%B6%E4%BB%96%E9%81%97%E4%BC%A0%E5%9B%A0%E7%B4%A0%E7%9A%84%E5%8F%82%E4%B8%8E\" >\u5176\u4ed6\u9057\u4f20\u56e0\u7d20\u7684\u53c2\u4e0e<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q36-3-duplication-syndrome\/?lang=zh-hans\/#%E5%AF%B9%E6%9C%AA%E6%9D%A5%E7%A0%94%E7%A9%B6%E7%9A%84%E6%9C%9F%E6%9C%9B\" >\u5bf9\u672a\u6765\u7814\u7a76\u7684\u671f\u671b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q36-3-duplication-syndrome\/?lang=zh-hans\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\" >\u5f15\u7528\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7q363%E5%BE%AE%E5%B0%8F%E9%87%8D%E5%A4%8D%E4%B8%8E%E7%9B%B8%E5%85%B3%E7%96%BE%E7%97%85\"><\/span><strong>7q36.3\u5fae\u5c0f\u91cd\u590d\u4e0e\u76f8\u5173\u75be\u75c5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/7q36.3-hgtIdeo_genome_127a03_df7320-1024x20.png\" alt=\"7q36.3 \" class=\"wp-image-90788\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>7q36.3\u5fae\u5c0f\u91cd\u590d\u662f\u4e00\u4e2a\u5728\u9057\u4f20\u5b66\u548c\u4e34\u5e8a\u7814\u7a76\u4e2d\u5177\u6709\u91cd\u8981\u610f\u4e49\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u3002\u8be5\u533a\u57df\u5305\u542b\u4e00\u4e2a\u8fdb\u5316\u4e0a\u4fdd\u5b88\u7684\u533a\u57df\u8c03\u8282\u5e8f\u5217\uff08ZRS\uff09\uff0c\u5b83\u662f\u63a7\u5236SHH\u57fa\u56e0\u8868\u8fbe\u7684\u5173\u952e\u8c03\u8282\u56e0\u5b50\u3002SHH\u662f\u80da\u80ce\u53d1\u80b2\u65e9\u671f\u7684\u91cd\u8981\u5f62\u6001\u53d1\u751f\u56e0\u5b50\uff0c\u5728\u5668\u5b98\u548c\u56db\u80a2\u7684\u6b63\u5e38\u53d1\u80b2\u4e2d\u53d1\u6325\u81f3\u5173\u91cd\u8981\u7684\u4f5c\u7528\u3002\u8fd9\u4e2a\u533a\u57df\u7684\u5fae\u5c0f\u91cd\u590d\u53ca\u5176\u4ed6\u53d8\u5f02\u5df2\u7ecf\u88ab\u53d1\u73b0\u4e0e\u4e00\u4e9b\u7f55\u89c1\u75be\u75c5\u6216\u5f02\u5e38\u7684\u53d1\u75c5\u76f8\u5173\u3002<\/p>\n\n\n\n<p>\u4e86\u89e37q36.3\u5fae\u5c0f\u91cd\u590d\u5982\u4f55\u5f71\u54cd\u5668\u5b98\u548c\u56db\u80a2\u53d1\u80b2\uff0c\u9700\u8981\u4e86\u89e3SHH\u57fa\u56e0\u7684\u529f\u80fd\u548cZRS\u7684\u4f5c\u7528\u3002SHH\u57fa\u56e0\u5728\u80da\u80ce\u53d1\u80b2\u7684\u65e9\u671f\u9636\u6bb5\u53d1\u51fa\u524d\u540e\u8f74\u548c\u5de6\u53f3\u8f74\u7684\u4fe1\u53f7\uff0c\u7279\u522b\u662f\u5728\u56db\u80a2\u82bd\u7684\u6781\u6027\u6d3b\u6027\u533a\uff08ZPA\uff09\u5185\u5c40\u90e8\u8868\u8fbe\uff0c\u4ece\u800c\u51b3\u5b9a\u624b\u6307\u6216\u811a\u8dbe\u7684\u6570\u91cf\u548c\u5f62\u6001\u3002\u5f53\u8fd9\u79cd\u7cbe\u786e\u7684\u8c03\u63a7\u7cfb\u7edf\u5931\u8c03\u65f6\uff0c\u53ef\u80fd\u4f1a\u5bfc\u81f4\u56db\u80a2\u53d1\u80b2\u5f02\u5e38\uff0c\u5e76\u4e14\u53ef\u80fd\u5f71\u54cd\u5176\u4ed6\u5668\u5b98\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"923\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/4d36d18c92a9f38fb1d67cb8d4277533.png\" alt=\"chromo7\" class=\"wp-image-89968\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7q363%E4%B8%8ETriphalangeal_Thumb-Polysyndactyly_Syndrome%EF%BC%88TPT-PS%EF%BC%89\"><\/span><strong>7q36.3\u4e0eTriphalangeal Thumb-Polysyndactyly Syndrome\uff08TPT-PS\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>TPT-PS\uff08\u5148\u5929\u6027\u4e09\u6307\u9aa8\u4eb2\u6307\u591a\u6307\u591a\u8dbe\u75c7\u5019\u7fa4\uff09\u662f\u4e00\u79cd\u76f8\u5bf9\u7f55\u89c1\u7684\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\u75be\u75c5\u3002\u5728\u8fd9\u79cd\u75be\u75c5\u4e2d\uff0c\u4eb2\u6307\u7531\u4e09\u4e2a\u6307\u9aa8\u7ec4\u6210\uff08\u4e09\u6307\u9aa8\u4eb2\u6307\uff09\uff0c\u5e76\u4e14\u6307\u4e0e\u6307\u4e4b\u95f4\u53d1\u751f\u7652\u5408\uff08\u8054\u5408\u75c7\uff09\uff0c\u751a\u81f3\u624b\u6307\u6216\u811a\u8dbe\u7684\u591a\u6307\u75c7\uff08\u591a\u6307\u75c7\uff09\u73b0\u8c61\u3002\u8fd9\u79cd\u75be\u75c5\u7684\u81f4\u75c5\u57fa\u56e0\u5ea7\u4f4d\u4e8e7q36.3\uff0cZRS\u533a\u57df\u7684\u53d8\u5f02\u6216\u91cd\u590d\u662f\u4e3b\u8981\u7684\u81f4\u75c5\u56e0\u7d20\u3002<\/p>\n\n\n\n<p>ZRS\u662f\u4e00\u4e2a\u957f\u8ddd\u79bb\u8c03\u8282SHH\u8868\u8fbe\u7684\u5e8f\u5217\uff0c\u63a7\u5236\u7740\u56db\u80a2\u82bd\u524d\u540e\u8f74\u7684\u5f62\u6210\u4fe1\u53f7\u3002\u8be5\u533a\u57df\u7684\u70b9\u7a81\u53d8\u6216\u91cd\u590d\u4e0d\u4ec5\u5f15\u8d77TPT-PS\uff0c\u8fd8\u4f1a\u5f15\u53d1Laurin-Sandrow\u7efc\u5408\u75c7\u548c\u5148\u5929\u6027\u591a\u6307\u75c7\u7b49\u5176\u4ed6\u56db\u80a2\u53d1\u80b2\u5f02\u5e38\u3002\u7136\u800c\uff0cTPT-PS\u4e3b\u8981\u662f\u9650\u4e8e\u56db\u80a2\u7684\u5f62\u6001\u5f02\u5e38\uff0c\u901a\u5e38\u4e0d\u4f1a\u5bf9\u5fc3\u8840\u7ba1\u75be\u75c5\u6216\u773c\u90e8\u5f02\u5e38\u7b49\u5176\u4ed6\u5668\u5b98\u4ea7\u751f\u5f71\u54cd\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/xp11-22-p11-23-duplication-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">Xp11.22-p11.23 \u91cd\u8907\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">Xp11.22-p11.23\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001X\u67d3\u8272\u4f53\u306ep11.22-p11.23\u9818\u57df\u306e\u91cd\u8907\u306b\u3088\u308a\u767a\u75c7\u3057\u3001\u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\u3001\u884c\u52d5\u7570\u5e38\u3001\u8eab\u4f53\u7684\u7570...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BF%83%E8%A1%80%E7%AE%A1%E7%96%BE%E7%97%85%E4%B8%8E%E7%9C%BC%E9%83%A8%E5%BC%82%E5%B8%B8%E7%9A%84%E4%BE%8B%E5%A4%96%E7%97%85%E4%BE%8B\"><\/span><strong>\u5fc3\u8840\u7ba1\u75be\u75c5\u4e0e\u773c\u90e8\u5f02\u5e38\u7684\u4f8b\u5916\u75c5\u4f8b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6709\u8da3\u7684\u662f\uff0c\u8fd1\u5e74\u6765\u4e00\u4e9b\u60a3\u8005\u5728TPT-PS\u7684\u57fa\u7840\u4e0a\uff0c\u62a5\u544a\u4e86\u91cd\u75c7\u5fc3\u8840\u7ba1\u75be\u75c5\uff08\u5148\u5929\u6027\u5fc3\u810f\u75c5CHD\uff09\u548c\u773c\u90e8\u5f02\u5e38\u7684\u5e76\u53d1\u75c7\u3002\u5728\u4e00\u4e2a\u5bb6\u5ead\u4e2d\uff0c\u53d1\u73b07q36.3\u533a\u57df299kb\u7684\u5fae\u5c0f\u91cd\u590d\u4e0eTPT-PS\u53d1\u75c5\u76f8\u5173\uff0c\u8fd9\u4e2a\u5fae\u5c0f\u91cd\u590d\u5728\u5bb6\u65cf\u5185\u6240\u6709TPT-PS\u60a3\u8005\u4e2d\u90fd\u6709\u51fa\u73b0\uff0c\u4f46CHD\uff08\u53f3\u5fc3\u5ba4\u53cc\u6d41\u51fa\u9053\uff09\u548c\u773c\u90e8\u5f02\u5e38\uff08\u5c0f\u773c\u7403\u75c7\u53ca\u89c6\u795e\u7ecf\u4e73\u5934\u88c2\u5b54\uff09\u53ea\u5728\u7279\u5b9a\u60a3\u8005\u4e2d\u51fa\u73b0\u3002\u8fd9\u8868\u660e7q36.3\u5fae\u5c0f\u91cd\u590d\u4e0d\u4ec5\u4ec5\u9650\u4e8e\u56db\u80a2\u53d1\u80b2\u5f02\u5e38\uff0c\u8fd8\u53ef\u80fd\u5bf9\u5fc3\u8840\u7ba1\u548c\u773c\u90e8\u7684\u53d1\u80b2\u4ea7\u751f\u5f71\u54cd\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/28020321_s.jpg\" alt=\"\u5fc3\u81d3\" class=\"wp-image-88825\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"SHH%E4%BF%A1%E5%8F%B7%E4%BC%A0%E5%AF%BC%E7%9A%84%E4%BD%9C%E7%94%A8%E5%8F%8A%E5%85%B6%E5%B9%BF%E6%B3%9B%E5%BD%B1%E5%93%8D\"><\/span><strong>SHH\u4fe1\u53f7\u4f20\u5bfc\u7684\u4f5c\u7528\u53ca\u5176\u5e7f\u6cdb\u5f71\u54cd<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>SHH\u57fa\u56e0\u7684\u4f5c\u7528\u4e0d\u4ec5\u4ec5\u9650\u4e8e\u56db\u80a2\u53d1\u80b2\u3002\u5b83\u5728\u5fc3\u810f\u548c\u773c\u775b\u7684\u53d1\u80b2\u4e2d\u4e5f\u626e\u6f14\u7740\u91cd\u8981\u89d2\u8272\u3002\u4f8b\u5982\uff0c\u5728\u52a8\u7269\u5b9e\u9a8c\u4e2d\uff0cSHH\u8fc7\u5ea6\u8868\u8fbe\u5f15\u53d1\u808c\u8089\u80a5\u5927\u548c\u5f02\u5e38\u7ec6\u80de\u589e\u6b96\u3002\u540c\u6837\uff0cSHH\u8868\u8fbe\u7684\u589e\u52a0\u6216\u51cf\u5c11\u53ef\u80fd\u4f1a\u5bfc\u81f4\u5fc3\u810f\u53d1\u80b2\u5f02\u5e38\u6216\u773c\u90e8\u53d1\u80b2\u7f3a\u9677\u3002\u5c24\u5176\u662f\uff0cSHH\u8868\u8fbe\u7684\u589e\u52a0\u6216\u51cf\u5c11\u4f1a\u4e25\u91cd\u5f71\u54cd\u773c\u90e8\u53d1\u80b2\u4e2d\u7684PAX2\u57fa\u56e0\u7b49\u4e0b\u6e38\u57fa\u56e0\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%85%B6%E4%BB%96%E9%81%97%E4%BC%A0%E5%9B%A0%E7%B4%A0%E7%9A%84%E5%8F%82%E4%B8%8E\"><\/span><strong>\u5176\u4ed6\u9057\u4f20\u56e0\u7d20\u7684\u53c2\u4e0e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5728\u5176\u4ed6\u5bb6\u7cfb\u7684TPT-PS\u60a3\u8005\u4e2d\u6ca1\u6709\u53d1\u73b0\u5fc3\u8840\u7ba1\u6216\u773c\u90e8\u5f02\u5e38\uff0c\u8fd9\u63d0\u793a7q36.3\u7684\u5fae\u5c0f\u91cd\u590d\u4e4b\u5916\uff0c\u53ef\u80fd\u8fd8\u6709\u5176\u4ed6\u9057\u4f20\u6216\u8868\u89c2\u9057\u4f20\u56e0\u7d20\u53c2\u4e0e\u5176\u4e2d\u3002\u4f8b\u5982\uff0c\u53e6\u4e00\u9879\u7814\u7a76\u62a5\u9053\u4e86TPT-PS\u4e0e\u6cd5\u6d1b\u56db\u8054\u75c7\u7684\u5e76\u53d1\uff0c\u75c5\u56e0\u75317q36.3\u91cd\u590d\u548c22q11.21\u7f3a\u5931\u8fd9\u4e24\u4e2a\u4e0d\u540c\u7684\u9057\u4f20\u7f3a\u9677\u5f15\u8d77\u3002\u8fd9\u8868\u660e\u5fae\u5c0f\u91cd\u590d\u4e0e\u5176\u4ed6\u9057\u4f20\u5f02\u5e38\u7684\u7ec4\u5408\u53ef\u80fd\u5f62\u6210\u590d\u6742\u7684\u75c5\u6001\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"480\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/26529659_s.jpg\" alt=\"SHH\" class=\"wp-image-90808\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AF%B9%E6%9C%AA%E6%9D%A5%E7%A0%94%E7%A9%B6%E7%9A%84%E6%9C%9F%E6%9C%9B\"><\/span><strong>\u5bf9\u672a\u6765\u7814\u7a76\u7684\u671f\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8fd9\u4e9b\u53d1\u73b0\u8868\u660e\uff0c7q36.3\u5fae\u5c0f\u91cd\u590d\u4e0d\u4ec5\u662fTPT-PS\u7684\u4e3b\u8981\u539f\u56e0\uff0c\u800c\u4e14\u53ef\u80fd\u5f71\u54cd\u5fc3\u8840\u7ba1\u548c\u773c\u90e8\u53d1\u80b2\u3002\u5982\u4f55\u8c03\u8282SHH\u4fe1\u53f7\u4f20\u5bfc\u53ca\u5176\u5bf9\u7279\u5b9a\u5668\u5b98\u7684\u5f71\u54cd\u4ecd\u9700\u8fdb\u4e00\u6b65\u7814\u7a76\u3002\u7279\u522b\u662f\u786e\u5b9a\u8c03\u8282SHH\u8868\u8fbe\u7684\u5176\u4ed6\u56e0\u5b50\u548c\u8868\u89c2\u9057\u4f20\u56e0\u7d20\u5c06\u6210\u4e3a\u672a\u6765\u7684\u5173\u952e\u4efb\u52a1\u3002\u901a\u8fc7\u672a\u6765\u7684\u7814\u7a76\uff0c\u5fae\u5c0f\u91cd\u590d\u5f15\u53d1\u7684\u591a\u79cd\u75be\u75c5\u673a\u5236\u5c06\u8fdb\u4e00\u6b65\u88ab\u63ed\u793a\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/2q31_1_duplication\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">2q31.1\u91cd\u8907\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066 <\/div>\n          <div class=\"blog-card-excerpt\">2q31.1\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u30012\u756a\u67d3\u8272\u4f53\u306e\u907a\u4f1d\u5b50\u91cd\u8907\u306b\u3088\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002\u767a\u9054\u9045\u5ef6\u3084\u5185\u81d3\u7570\u5e38\u304c\u7279\u5fb4\u3067\u3001\u65e9\u671f\u7642\u80b2\u3068\u533b\u7642\u7ba1\u7406\u304c\u751f\u6d3b\u306e\u8cea\u5411\u4e0a\u306b\u91cd\u8981\u3067\u3059\u3002...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\"><\/span>\u5f15\u7528\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.3892\/mmr.2016.6092\">Liu, Z., Yin, N., Gong, L., Tan, Z., Yin, B., Yang, Y., &amp; Luo, C. (2017). Microduplication of 7q36.3 encompassing the SHH long\u2011range regulator (ZRS) in a patient with triphalangeal thumb\u2011polysyndactyly syndrome and congenital heart disease. <em>Molecular medicine reports<\/em>, <em>15<\/em>(2), 793\u2013797. https:\/\/doi.org\/10.3892\/mmr.2016.6092<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ejmg.2012.04.009\">Kroeldrup, L., Kjaergaard, S., Kirchhoff, M., Kock, K., Brasch-Andersen, C., Kibaek, M., &amp; Ousager, L. B. (2012). Duplication of 7q36.3 encompassing the Sonic Hedgehog (Shh) gene is associated with congenital muscular hypertrophy. <em>European Journal of Medical Genetics<\/em>, <em>55<\/em>(10), 557\u2013560. https:\/\/doi.org\/10.1016\/j.ejmg.2012.04.009<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/srep02587\">Aleksic, B., Kushima, I., Ohye, T., Ikeda, M., Kunimoto, S., Nakamura, Y., Yoshimi, A., Koide, T., Iritani, S., Kurahashi, H., Iwata, N., &amp; Ozaki, N. (2013). Definition and refinement of the 7q36.3 duplication region associated with schizophrenia. <em>Scientific Reports<\/em>, <em>3<\/em>(1), 2587. https:\/\/doi.org\/10.1038\/srep02587<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s12920-020-00821-x\">Zlotina, A., Melnik, O., Fomicheva, Y., Skitchenko, R., Sergushichev, A., Shagimardanova, E., Gusev, O., Gazizova, G., Loevets, T., Vershinina, T., Kozyrev, I., Gordeev, M., Vasichkina, E., Pervunina, T., &amp; Kostareva, A. (2020). A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: A case report. <em>BMC Medical Genomics<\/em>, <em>13<\/em>(1), 175. https:\/\/doi.org\/10.1186\/s12920-020-00821-x<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkae974\">Perez, G., Barber, G. P., Benet-Pages, A., Casper, J., Clawson, H., Diekhans, M., Fischer, C., Gonzalez, J. N., Hinrichs, A. S., Lee, C. M., Nassar, L. R., Raney, B. J., Speir, M. L., van Baren, M. J., Vaske, C. J., Haussler, D., Kent, W. J., &amp; Haeussler, M. (2024). The UCSC Genome Browser database: 2025 update. Nucleic Acids Research, gkae974. https:\/\/doi.org\/10.1093\/nar\/gkae974<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkad1049\">Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., Bhurji, S. K., Boddu, S., Branco Lins, P. R., Brooks, L., Budhanuru Ramaraju, S., Campbell, L. I., Carbajo Martinez, M., Charkhchi, M., Chougule, K., \u2026 Yates, A. D. (2024). Ensembl 2024. Nucleic Acids Research, 52(D1), D891\u2013D899. https:\/\/doi.org\/10.1093\/nar\/gkad1049<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.nature.com\/articles\/s41586-021-03819-2\" target=\"_blank\" rel=\"noreferrer noopener\">Jumper, J <em>et al<\/em>. Highly accurate protein structure prediction with AlphaFold. <em>Nature<\/em> (2021)<\/a>.<\/li>\n\n\n\n<li><a href=\"https:\/\/academic.oup.com\/nar\/advance-article\/doi\/10.1093\/nar\/gkab1061\/6430488\" target=\"_blank\" rel=\"noreferrer noopener\">Varadi, M <em>et al<\/em>. AlphaFold Protein Structure Database: massively expanding the structural coverage of protein-sequence space with high-accuracy models. <em>Nucleic Acids Research <\/em>(2021)<\/a>.<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n","protected":false},"excerpt":{"rendered":"\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u30817q36.3\u306e\u5fae\u5c0f\u91cd\u8907\u306f&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q36-3-duplication-syndrome\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":90806,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[14],"tags":[],"class_list":["post-85443","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-other-zh-hans"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85443","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/101"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=85443"}],"version-history":[{"count":15,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85443\/revisions"}],"predecessor-version":[{"id":112034,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85443\/revisions\/112034"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/90806"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=85443"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=85443"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=85443"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}