{"id":117075,"date":"2025-10-01T12:13:20","date_gmt":"2025-10-01T03:13:20","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/"},"modified":"2025-10-15T15:07:21","modified_gmt":"2025-10-15T06:07:21","slug":"chromosome-9p24-3-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/?lang=zh-hans","title":{"rendered":"9p24.3 \u7f3a\u5931\u7efc\u5408\u5f81\uff089p24.3 Deletion Syndrome\uff09"},"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 ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span 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ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/?lang=zh-hans\/#%E7%96%BE%E7%97%85%E5%88%AB%E7%A7%B0\" >\u75be\u75c5\u522b\u79f0<\/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\/chromosome-9p24-3-deletion-syndrome\/?lang=zh-hans\/#%E7%96%BE%E7%97%85%E6%A6%82%E8%A6%81\" >\u75be\u75c5\u6982\u8981<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/?lang=zh-hans\/#%E7%BC%BA%E5%A4%B1%E8%8C%83%E5%9B%B4%E4%B8%8E%E7%9B%B8%E5%85%B3%E5%9F%BA%E5%9B%A0\" >\u7f3a\u5931\u8303\u56f4\u4e0e\u76f8\u5173\u57fa\u56e0<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/?lang=zh-hans\/#%E4%B8%B4%E5%BA%8A%E7%89%B9%E5%BE%81%EF%BC%88%E5%85%B8%E5%9E%8B%E8%A1%A8%E7%8E%B0%EF%BC%89\" >\u4e34\u5e8a\u7279\u5f81\uff08\u5178\u578b\u8868\u73b0\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/?lang=zh-hans\/#%E6%B5%81%E8%A1%8C%E7%97%85%E5%AD%A6%E4%B8%8E%E5%8F%91%E7%94%9F%E9%A2%91%E7%8E%87\" >\u6d41\u884c\u75c5\u5b66\u4e0e\u53d1\u751f\u9891\u7387<\/a><\/li><\/ul><\/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\/chromosome-9p24-3-deletion-syndrome\/?lang=zh-hans\/#%E7%97%85%E5%9B%A0%E4%B8%8E%E8%AF%8A%E6%96%AD%E6%96%B9%E6%B3%95\" >\u75c5\u56e0\u4e0e\u8bca\u65ad\u65b9\u6cd5<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/?lang=zh-hans\/#%E7%97%85%E5%9B%A0%E6%9C%BA%E5%88%B6\" >\u75c5\u56e0\u673a\u5236<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/?lang=zh-hans\/#%E8%AF%8A%E6%96%AD%E6%96%B9%E6%B3%95\" >\u8bca\u65ad\u65b9\u6cd5<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/?lang=zh-hans\/#%E7%97%87%E7%8A%B6%E4%B8%8E%E7%AE%A1%E7%90%86%E6%96%B9%E6%B3%95\" >\u75c7\u72b6\u4e0e\u7ba1\u7406\u65b9\u6cd5<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/?lang=zh-hans\/#%E4%B8%BB%E8%A6%81%E7%97%87%E7%8A%B6%E4%B8%8E%E9%97%AE%E9%A2%98\" >\u4e3b\u8981\u75c7\u72b6\u4e0e\u95ee\u9898<\/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\/chromosome-9p24-3-deletion-syndrome\/?lang=zh-hans\/#%E7%AE%A1%E7%90%86_%E6%B2%BB%E7%96%97%E7%AD%96%E7%95%A5\" >\u7ba1\u7406 \/ \u6cbb\u7597\u7b56\u7565<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/?lang=zh-hans\/#%E6%9C%AA%E6%9D%A5%E5%B1%95%E6%9C%9B\" >\u672a\u6765\u5c55\u671b<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E7%97%85%E5%88%AB%E7%A7%B0\"><\/span><strong>\u75be\u75c5\u522b\u79f0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>9p24.3 \u7f3a\u5931\u7efc\u5408\u5f81<br><\/li>\n\n\n\n<li>9p \u77ed\u81c2\u90e8\u5206\u7f3a\u5931\uff08\u5c24\u5176\u662f 9p24.3 \u533a\u57df\uff09<br><\/li>\n\n\n\n<li>9p \u7f3a\u5931\u7efc\u5408\u5f81\uff089p deletion syndrome \/ 9p\u2011\u7efc\u5408\u5f81\uff09\u7684\u4e00\u79cd\u5f62\u5f0f<br><\/li>\n\n\n\n<li>9p \u7aef\u7f3a\u5931\uff089p minus \u7efc\u5408\u5f81\uff0c\u5c24\u5176\u6307\u201c\u672b\u7aef\u7f3a\u5931\u578b\u201d\uff09<br><\/li>\n\n\n\n<li>\u6709\u65f6\u88ab\u4f5c\u4e3a Alfi \u7efc\u5408\u5f81\uff08\u6307\u6574\u4e2a 9p \u7f3a\u5931\u7efc\u5408\u5f81\uff09\u7684\u4e00\u4e2a\u4e9a\u578b<br><\/li>\n<\/ul>\n\n\n\n<p>\u8fd9\u4e2a\u547d\u540d\u610f\u5473\u7740 9 \u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff08p \u81c2\uff09\u9760\u8fd1\u672b\u7aef\u7684 24.3 \u533a\u57df\u7684\u4e00\u4e9b\u6216\u5168\u90e8\u57fa\u56e0\u5728\u4e00\u4e2a\u62f7\u8d1d\u4e0a\u88ab\u7f3a\u5931\u3002\u5728\u66f4\u5e7f\u4e49\u7684 9p \u7f3a\u5931\uff089p deletion \/ 9p\u2011\u7efc\u5408\u5f81\uff09\u6846\u67b6\u4e2d\uff0c\u5f53\u7f3a\u5931\u7684\u7aef\u70b9\u9760\u8fd1 24.3 \u533a\u57df\u65f6\uff0c\u4f1a\u4f7f\u7528 \u201c9p24.3 \u7f3a\u5931\u7efc\u5408\u5f81\u201d \u8fd9\u4e00\u672f\u8bed\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E7%97%85%E6%A6%82%E8%A6%81\"><\/span><strong>\u75be\u75c5\u6982\u8981<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>9p24.3 \u7f3a\u5931\u7efc\u5408\u5f81\u662f\u7531\u4e8e 9 \u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u672b\u7aef\u8fd1\u508d\uff08p24.3 \u533a\u57df\uff09\u7684\u4e00\u90e8\u5206\u57fa\u56e0\u5728\u5355\u4fa7\u7f3a\u5931\uff0c\u5bfc\u81f4\u8be5\u533a\u57df\u5305\u542b\u7684\u57fa\u56e0\u53ea\u80fd\u4ee5\u5355\u62f7\u8d1d\u8868\u8fbe\uff08\u5373\u201c\u534a\u5408\u5242\u91cf\u201d\uff09\uff0c\u4ece\u800c\u5f15\u53d1\u53d1\u80b2\u3001\u5f62\u6001\u3001\u529f\u80fd\u65b9\u9762\u7684\u5404\u79cd\u5f02\u5e38\u3002\u8fd9\u79cd\u67d3\u8272\u4f53\u5f02\u5e38\u53ef\u8868\u73b0\u4e3a\u591a\u79cd\u4e0d\u540c\u7684\u8868\u578b\uff0c\u5176\u4e34\u5e8a\u7279\u5f81\u4e0e\u7f3a\u5931\u8303\u56f4\uff08\u7f3a\u5931\u4e86\u54ea\u4e9b\u57fa\u56e0\uff09\u3001\u662f\u5426\u4f34\u6709\u5176\u4ed6\u67d3\u8272\u4f53\u5f02\u5e38\u3001\u4e2a\u4f53\u5dee\u5f02\u7b49\u56e0\u7d20\u5bc6\u5207\u76f8\u5173\u3002\u56e0\u6b64\uff0c\u5176\u8868\u578b\u6709\u4ece\u8f7b\u5230\u91cd\u7684\u5e7f\u6cdb\u53d8\u5f02\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%BC%BA%E5%A4%B1%E8%8C%83%E5%9B%B4%E4%B8%8E%E7%9B%B8%E5%85%B3%E5%9F%BA%E5%9B%A0\"><\/span><strong>\u7f3a\u5931\u8303\u56f4\u4e0e\u76f8\u5173\u57fa\u56e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5728\u9488\u5bf9 9p \u7f3a\u5931\u7684\u8f83\u5927\u89c4\u6a21\u7814\u7a76\u4e2d\uff0c\u7f3a\u5931\u7aef\u70b9\u96c6\u4e2d\u4e8e 9p22 \u548c 9p24 \u533a\u57df\u88ab\u9891\u7e41\u62a5\u544a\uff0c\u8868\u660e 9p24 \u533a\u57df\u662f\u4e00\u4e2a\u53d8\u5f02\u70ed\u70b9\u3002<br>\u5728 9p24.3 \u7f3a\u5931\u7684\u75c5\u4f8b\u4e2d\uff0c\u8be5\u533a\u57df\u5185\u5305\u62ec\u591a\u4e2a\u5019\u9009\u57fa\u56e0\uff0c\u5982 DOCK8\u3001KANK1\u3001DMRT1\u3001DMRT2\u3001DMRT3\u3001FOXD4\u3001SMARCA2 \u7b49\u3002<br>\u7279\u522b\u5730\uff0cDOCK8 \u4e0e KANK1 \u4e0e\u795e\u7ecf\u53d1\u80b2\u3001\u884c\u4e3a\u8c03\u63a7\u3001\u514d\u75ab\u7cfb\u7edf\u529f\u80fd\u7b49\u76f8\u5173\uff0c\u5728\u7f3a\u5931\u75c5\u4f8b\u4e2d\u5176\u5f02\u5e38\u53ef\u80fd\u4e0e\u795e\u7ecf\u53d1\u80b2\u969c\u788d\u3001\u766b\u75eb\u503e\u5411\u3001\u81ea\u95ed\u75c7\u8c31\u7cfb\u7279\u5f81\u6709\u5173\u3002<br>\u6b64\u5916\uff0cDMRT \u57fa\u56e0\u5bb6\u65cf\uff08\u4e0e\u6027\u5206\u5316\u76f8\u5173\uff09\u5728\u6027\u522b\u53d1\u80b2\u5f02\u5e38\u6848\u4f8b\u4e2d\u53d7\u5230\u91cd\u89c6\u3002\u6709\u4e9b\u5177\u6709 XY \u67d3\u8272\u4f53\u6784\u6210\u7684\u7537\u6027\u75c5\u4f8b\u53ef\u80fd\u5408\u5e76\u5916\u751f\u6b96\u5668\u53d1\u80b2\u4e0d\u5168\u7b49\u5f02\u5e38\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%B4%E5%BA%8A%E7%89%B9%E5%BE%81%EF%BC%88%E5%85%B8%E5%9E%8B%E8%A1%A8%E7%8E%B0%EF%BC%89\"><\/span><strong>\u4e34\u5e8a\u7279\u5f81\uff08\u5178\u578b\u8868\u73b0\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4ee5\u4e0b\u662f\u6587\u732e\u4e2d\u62a5\u9053\u7684\u4e3b\u8981\u4e34\u5e8a\u7279\u5f81\uff08\u5e76\u975e\u6bcf\u4f8b\u90fd\u5177\u5907\uff09\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u53d1\u80b2\u8fdf\u6ede\u3001\u667a\u529b\u969c\u788d\uff08\u4e2d\u5ea6\u5230\u91cd\u5ea6\uff09<br><\/li>\n\n\n\n<li>\u8bed\u8a00\u53d1\u80b2\u8fdf\u7f13\u3001\u53d1\u8bed\u56f0\u96be<br><\/li>\n\n\n\n<li>\u9762\u8c8c\u5f02\u5e38\uff1a\u4e09\u89d2\u5934\u9885\uff08\u524d\u989d\u90e8\u72ed\u7a84\uff09\u3001\u4e2d\u9762\u90e8\u53d1\u80b2\u4e0d\u826f\u3001\u4f4e\u4f4d\u8033\u3001\u9f3b\u6881\u5bbd\u3001\u8f83\u957f\u7684\u4eba\u4e2d\u3001\u4e0a\u5507\u53d8\u8584\u7b49<br><\/li>\n\n\n\n<li>\u5148\u5929\u6027\u5fc3\u810f\u7578\u5f62\uff08\u5982\u5ba4\u95f4\u9694\u7f3a\u635f\u3001\u623f\u95f4\u9694\u7f3a\u635f\u7b49\uff09<br><\/li>\n\n\n\n<li>\u751f\u6b96\u5668\u5f02\u5e38\uff0f\u6027\u522b\u5206\u5316\u5f02\u5e38\uff1a\u7537\u6027\u75c5\u4f8b\u53ef\u80fd\u6709\u5916\u751f\u6b96\u5668\u53d1\u80b2\u4e0d\u826f\u3001\u777e\u4e38\u505c\u7559\u7b49<br><\/li>\n\n\n\n<li>\u884c\u4e3a\u5f02\u5e38\u3001\u81ea\u95ed\u75c7\u503e\u5411\u3001\u6ce8\u610f\u529b\u7f3a\u9677\u3001\u591a\u52a8\u503e\u5411<br><\/li>\n\n\n\n<li>\u514d\u75ab\u5f02\u5e38\u503e\u5411\uff0f\u53cd\u590d\u611f\u67d3\uff08\u90e8\u5206 DOCK8 \u7f3a\u5931\u75c5\u4f8b\u6709\u62a5\u544a\uff09<br><\/li>\n\n\n\n<li>\u5176\u4ed6\uff1a\u6ccc\u5c3f\u7cfb\u7edf\u5f02\u5e38\u3001\u56db\u80a2\u7578\u5f62\u3001\u89c6\u89c9\u5f02\u5e38\uff08\u5982\u659c\u89c6\u3001\u89c6\u795e\u7ecf\u53d1\u80b2\u4e0d\u826f\u7b49\uff09\u3001\u8fd0\u52a8\u534f\u8c03\u6027\u4e0b\u964d\u3001\u808c\u5f20\u529b\u5f02\u5e38<br><\/li>\n<\/ul>\n\n\n\n<p>\u62a5\u9053\u6848\u4f8b\u8f83\u5c11\uff0c\u7eaf\u7cb9\u7684 9p24.3 \u7f3a\u5931\uff08\u65e0\u5176\u4ed6\u67d3\u8272\u4f53\u5f02\u5e38\uff09\u88ab\u8ba4\u4e3a\u76f8\u5bf9\u7a00\u6709\uff0c\u901a\u5e38\u88ab\u89c6\u4e3a 9p \u7f3a\u5931\u7efc\u5408\u5f81\u7684\u4e00\u4e2a\u53d8\u5f02\u5f62\u5f0f\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B5%81%E8%A1%8C%E7%97%85%E5%AD%A6%E4%B8%8E%E5%8F%91%E7%94%9F%E9%A2%91%E7%8E%87\"><\/span><strong>\u6d41\u884c\u75c5\u5b66\u4e0e\u53d1\u751f\u9891\u7387<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5173\u4e8e\u6574\u4e2a 9p \u7f3a\u5931\u7efc\u5408\u5f81\u800c\u8a00\uff0c\u5df2\u6709\u62a5\u9053\u75c5\u4f8b\u8d85\u8fc7 100 \u4f8b\uff0c\u4f46\u771f\u5b9e\u53d1\u751f\u7387\u5c1a\u4e0d\u660e\u786e\u3002<br>\u4ec5\u9650\u4e8e 9p24.3 \u533a\u57df\u7f3a\u5931\u7684\u75c5\u4f8b\u66f4\u4e3a\u7a00\u5c11\uff0c\u6587\u732e\u4e2d\u4ec5\u6709\u5c11\u6570\u62a5\u9053\u3002<br>\u591a\u6570\u60c5\u51b5\u4e0b\uff0c\u8be5\u7f3a\u5931\u4e3a <strong>de novo<\/strong>\uff08\u65b0\u53d1\u7a81\u53d8\uff09\uff0c\u7236\u6bcd\u4e2d\u65e0\u76f8\u540c\u5f02\u5e38\u3002\u4f46\u4e5f\u6709\u6781\u5c11\u6570\u6848\u4f8b\uff0c\u7236\u6bcd\u643a\u5e26\u5e73\u8861\u578b\u67d3\u8272\u4f53\u6613\u4f4d\uff0c\u540e\u4ee3\u51fa\u73b0\u4e0d\u5e73\u8861\u7f3a\u5931\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0%E4%B8%8E%E8%AF%8A%E6%96%AD%E6%96%B9%E6%B3%95\"><\/span><strong>\u75c5\u56e0\u4e0e\u8bca\u65ad\u65b9\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0%E6%9C%BA%E5%88%B6\"><\/span><strong>\u75c5\u56e0\u673a\u5236<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7f3a\u5931\u901a\u5e38\u7531\u67d3\u8272\u4f53\u65ad\u88c2\u4e0e\u91cd\u7ec4\u5f02\u5e38\u5f15\u8d77\uff0c\u53d1\u751f\u65f6\u70b9\u53ef\u80fd\u5728\u914d\u5b50\u5f62\u6210\u671f\u6216\u53d7\u7cbe\u540e\u65e9\u671f\u9636\u6bb5\u3002<br><\/li>\n\n\n\n<li>\u82e5\u7236\u6bcd\u5177\u6709\u5e73\u8861\u578b\u67d3\u8272\u4f53\u91cd\u6392\uff08\u5982\u6613\u4f4d\u3001\u5012\u4f4d\u7b49\uff09\uff0c\u5219\u6709\u53ef\u80fd\u4ea7\u751f\u4e0d\u5e73\u8861\u578b\u4f20\u9012\u7ed9\u5b50\u4ee3\u3002<br><\/li>\n\n\n\n<li>\u7f3a\u5931\u5bfc\u81f4 <strong>\u534a\u5408\u5242\u91cf\uff08haploinsufficiency\uff09<\/strong>\uff0c\u5373\u53ea\u6709\u4e00\u4efd\u62f7\u8d1d\u8868\u8fbe\uff0c\u67d0\u4e9b\u57fa\u56e0\u7684\u8868\u8fbe\u91cf\u4e0d\u8db3\u4ee5\u7ef4\u6301\u6b63\u5e38\u529f\u80fd\uff0c\u4ece\u800c\u5f71\u54cd\u53d1\u80b2\u4e0e\u7ed3\u6784\u5f62\u6210\u3002<br><\/li>\n\n\n\n<li>\u6b64\u5916\uff0c\u7f3a\u5931\u533a\u57df\u4ee5\u5916\u57fa\u56e0\u7684\u76f8\u4e92\u4f5c\u7528\u3001\u57fa\u56e0\u8c03\u63a7\u7f51\u7edc\u5931\u8861\u3001\u4fee\u9970\u57fa\u56e0\u5f71\u54cd\u7b49\uff0c\u4e5f\u88ab\u8ba4\u4e3a\u662f\u5bfc\u81f4\u8868\u578b\u5dee\u5f02\u7684\u91cd\u8981\u56e0\u7d20\u3002<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%AF%8A%E6%96%AD%E6%96%B9%E6%B3%95\"><\/span><strong>\u8bca\u65ad\u65b9\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u4e34\u5e8a\u6000\u7591\u4e0e\u4f53\u683c\u68c0\u67e5<\/strong><strong><br><\/strong> \u2002\u6839\u636e\u53d1\u80b2\u8fdf\u6ede\u3001\u9762\u8c8c\u5f02\u5e38\u3001\u5fc3\u810f\u7578\u5f62\u3001\u751f\u6b96\u5668\u5f02\u5e38\u7b49\u4f53\u5f81\u6000\u7591\u67d3\u8272\u4f53\u5f02\u5e38\u3002<br><\/li>\n\n\n\n<li><strong>\u6807\u51c6\u67d3\u8272\u4f53\u5206\u6790\uff08\u6838\u578b\u5206\u6790\uff09<\/strong><strong><br><\/strong> \u2002\u82e5\u7f3a\u5931\u8f83\u5927\uff0c\u53ef\u80fd\u5728 G\u2011\u5e26\u67d3\u8272\u4f53\u5206\u6790\u4e2d\u53ef\u88ab\u68c0\u6d4b\u5230\u3002<br><\/li>\n\n\n\n<li><strong>FISH\uff08\u8367\u5149\u539f\u4f4d\u6742\u4ea4\uff09<\/strong><strong><br><\/strong> \u2002\u4f7f\u7528\u7279\u5f02\u63a2\u9488\u68c0\u6d4b 9p24.3 \u533a\u57df\u662f\u5426\u5b58\u5728\u7f3a\u5931\u3002<br><\/li>\n\n\n\n<li><strong>\u5fae\u9635\u5217\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4 \/ SNP \u5fae\u9635\u5217\uff08array CGH \/ SNP array\uff09<\/strong><strong><br><\/strong> \u2002\u9ad8\u5206\u8fa8\u7387\u68c0\u6d4b\u7f3a\u5931\u6216\u91cd\u590d\uff0c\u53ef\u63a2\u6d4b\u5fae\u5c0f\u7f3a\u5931\u3002<br><\/li>\n\n\n\n<li><strong>\u4e0b\u4e00\u4ee3\u6d4b\u5e8f\uff08NGS\uff09\u8f85\u52a9\u68c0\u6d4b<\/strong><strong><br><\/strong> \u2002\u4f5c\u4e3a\u8865\u5145\u624b\u6bb5\uff0c\u53ef\u66f4\u7cbe\u7ec6\u5730\u8bc4\u4f30\u7f3a\u5931\u533a\u57df\u5305\u542b\u57fa\u56e0\u7684\u7a81\u53d8\u60c5\u51b5\u3002<br><\/li>\n\n\n\n<li><strong>\u4eb2\u672c\u68c0\u6d4b \/ \u9057\u4f20\u54a8\u8be2<\/strong><strong><br><\/strong> \u2002\u8fdb\u884c\u7236\u6bcd\u67d3\u8272\u4f53\u68c0\u6d4b\uff0c\u4ee5\u5224\u65ad\u662f\u5426\u4e3a\u5e73\u8861\u578b\u91cd\u6392\u643a\u5e26\u8005\uff0c\u4e3a\u672a\u6765\u598a\u5a20\u98ce\u9669\u8bc4\u4f30\u63d0\u4f9b\u4f9d\u636e\u3002<br><\/li>\n\n\n\n<li><strong>\u8f85\u52a9\u68c0\u67e5<\/strong><strong><br><\/strong> \u2002\u7ed3\u5408\u5fc3\u810f\u8d85\u58f0\u3001\u751f\u6b96\uff0f\u5185\u5206\u6ccc\u68c0\u6d4b\u3001\u514d\u75ab\u529f\u80fd\u68c0\u6d4b\u3001\u6ccc\u5c3f\u7cfb\u7edf\u68c0\u67e5\u3001\u5f71\u50cf\u5b66\uff08\u5982\u8111 MRI\uff09\u7b49\u4ee5\u8bc4\u4f30\u5e76\u53d1\u75c7\u3002<br><\/li>\n<\/ol>\n\n\n\n<p>\u901a\u8fc7\u4e0a\u8ff0\u5206\u6b65\u9aa4\u68c0\u6d4b\uff0c\u53ef\u6700\u7ec8\u786e\u7acb\u8bca\u65ad\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6%E4%B8%8E%E7%AE%A1%E7%90%86%E6%96%B9%E6%B3%95\"><\/span><strong>\u75c7\u72b6\u4e0e\u7ba1\u7406\u65b9\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E8%A6%81%E7%97%87%E7%8A%B6%E4%B8%8E%E9%97%AE%E9%A2%98\"><\/span><strong>\u4e3b\u8981\u75c7\u72b6\u4e0e\u95ee\u9898<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u53d1\u80b2\u8fdf\u6ede\u3001\u667a\u529b\u969c\u788d<br><\/li>\n\n\n\n<li>\u8bed\u8a00\u53d1\u80b2\u8fdf\u7f13\u3001\u53d1\u8bed\u56f0\u96be<br><\/li>\n\n\n\n<li>\u9762\u8c8c\u5f02\u5e38\uff08\u5934\u9885\u3001\u8033\u9f3b\u53e3\u7b49\u5f62\u6001\u53d8\u5f02\uff09<br><\/li>\n\n\n\n<li>\u5148\u5929\u6027\u5fc3\u810f\u7578\u5f62<br><\/li>\n\n\n\n<li>\u751f\u6b96\u5668\u5f02\u5e38 \/ \u6027\u522b\u5206\u5316\u5f02\u5e38<br><\/li>\n\n\n\n<li>\u884c\u4e3a\u5f02\u5e38\u3001\u81ea\u95ed\u8c31\u7cfb\u7279\u5f81\u3001\u6ce8\u610f\u7f3a\u9677 \/ \u591a\u52a8<br><\/li>\n\n\n\n<li>\u514d\u75ab\u529f\u80fd\u4e0b\u964d\u3001\u53cd\u590d\u611f\u67d3<br><\/li>\n\n\n\n<li>\u89c6\u89c9\u5f02\u5e38\uff08\u659c\u89c6\u3001\u773c\u9707\u3001\u89c6\u795e\u7ecf\u53d1\u80b2\u4e0d\u826f\uff09<br><\/li>\n\n\n\n<li>\u5176\u4ed6\u7578\u5f62\uff1a\u6ccc\u5c3f\u7cfb\u7edf\u3001\u56db\u80a2\u3001\u80be\u810f\u7b49<br><\/li>\n\n\n\n<li>\u808c\u5f20\u529b\u5f02\u5e38\u3001\u8fd0\u52a8\u534f\u8c03\u6027\u4e0b\u964d<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%AE%A1%E7%90%86_%E6%B2%BB%E7%96%97%E7%AD%96%E7%95%A5\"><\/span><strong>\u7ba1\u7406 \/ \u6cbb\u7597\u7b56\u7565<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53d1\u5c55\u652f\u6301 \/ \u65e9\u671f\u5e72\u9884<\/strong><strong><br><\/strong> \u2002\u4ece\u5e7c\u513f\u671f\u5373\u8fdb\u884c\u7269\u7406\u6cbb\u7597\u3001\u4f5c\u4e1a\u6cbb\u7597\u3001\u8bed\u8a00\u6cbb\u7597\u4e0e\u53d1\u5c55\u652f\u6301\uff0c\u4ee5\u6700\u5927\u5316\u8fd0\u52a8\u3001\u8ba4\u77e5\u4e0e\u8bed\u8a00\u80fd\u529b\u3002<br><\/li>\n\n\n\n<li><strong>\u5fc3\u810f\u7578\u5f62\u7ba1\u7406<\/strong><strong><br><\/strong> \u2002\u5982\u5b58\u5728\u5fc3\u810f\u7f3a\u9677\uff0c\u5e94\u4e0e\u5fc3\u810f\u4e13\u5bb6\u5408\u4f5c\uff0c\u89c6\u60c5\u51b5\u8fdb\u884c\u624b\u672f\u6216\u5185\u79d1\u6cbb\u7597\uff0c\u5e76\u5b9a\u671f\u76d1\u6d4b\u5fc3\u529f\u80fd\u3002<br><\/li>\n\n\n\n<li><strong>\u6027\u817a \/ \u5185\u5206\u6ccc\u5904\u7406<\/strong><strong><br><\/strong> \u2002\u5982\u5408\u5e76\u751f\u6b96\u5668\u5f02\u5e38\uff0c\u5e94\u8fdb\u884c\u5185\u5206\u6ccc\u68c0\u6d4b\u3001\u5fc5\u8981\u65f6\u6fc0\u7d20\u66ff\u4ee3\u6cbb\u7597\u6216\u624b\u672f\u5e72\u9884\u3002<br><\/li>\n\n\n\n<li><strong>\u514d\u75ab\u7ba1\u7406 \/ \u611f\u67d3\u9884\u9632<\/strong><strong><br><\/strong> \u2002\u5bf9\u514d\u75ab\u529f\u80fd\u8fdb\u884c\u76d1\u6d4b\uff0c\u5982\u6709\u514d\u75ab\u7f3a\u9677\u503e\u5411\uff0c\u91c7\u53d6\u9884\u9632\u63a5\u79cd\u3001\u611f\u67d3\u63a7\u5236\u7b56\u7565\u3001\u65e9\u671f\u6297\u611f\u67d3\u6cbb\u7597\u7b49\u3002<br><\/li>\n\n\n\n<li><strong>\u884c\u4e3a\u4e0e\u5fc3\u7406\u7167\u62a4<\/strong><strong><br><\/strong> \u2002\u7ed3\u5408\u884c\u4e3a\u7597\u6cd5\u3001\u73af\u5883\u8c03\u6574\u3001\u5fc3\u7406\u8f85\u5bfc\uff0c\u5fc5\u8981\u65f6\u8f85\u4ee5\u836f\u7269\u6cbb\u7597\uff0c\u5bf9\u4ed8\u884c\u4e3a\u5f02\u5e38\u6216\u6ce8\u610f\u529b\u7f3a\u9677\u3002<br><\/li>\n\n\n\n<li><strong>\u89c6\u542c\u652f\u6301<\/strong><strong><br><\/strong> \u2002\u5b9a\u671f\u773c\u79d1\u3001\u8033\u9f3b\u79d1\u68c0\u67e5\uff0c\u8fdb\u884c\u659c\u89c6\u77eb\u6b63\u3001\u914d\u955c\u3001\u8865\u52a9\u5668\u5177\uff08\u5982\u52a9\u542c\u5668\uff09\u7b49\u652f\u6301\u3002<br><\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u76d1\u6d4b<\/strong><strong><br><\/strong> \u2002\u6301\u7eed\u8bc4\u4f30\u751f\u957f\u53d1\u80b2\u3001\u5fc3\u80be\u6ccc\u5c3f\u3001\u795e\u7ecf\u53d1\u80b2\u3001\u89c6\u542c\u529f\u80fd\u7b49\uff0c\u5fc5\u8981\u65f6\u4ecb\u5165\u5e72\u9884\u3002<br><\/li>\n\n\n\n<li><strong>\u6559\u80b2\u4e0e\u793e\u4f1a \/ \u798f\u5229\u652f\u6301<\/strong><strong><br><\/strong> \u2002\u4e0e\u7279\u6b8a\u6559\u80b2\u673a\u6784\u3001\u7597\u80b2\u673a\u6784\u5408\u4f5c\uff0c\u4f7f\u7528\u8f85\u52a9\u5668\u5177\u3001\u65e5\u95f4\u652f\u6301\u3001\u5c31\u4e1a\u652f\u6301\u3001\u6b8b\u75be\u798f\u7949\u5236\u5ea6\u3001\u62a4\u7406\u7cfb\u7edf\u7b49\uff0c\u5efa\u7acb\u5468\u5168\u7684\u652f\u6301\u4f53\u7cfb\u3002<br><\/li>\n\n\n\n<li><strong>\u5bb6\u5ead\u652f\u6301<\/strong><strong><br><\/strong> \u2002\u4e3a\u7236\u6bcd \/ \u5bb6\u4eba\u63d0\u4f9b\u5fc3\u7406\u652f\u6301\u3001\u54a8\u8be2\u8d44\u6e90\u3001\u5598\u606f\u7167\u62a4\u5b89\u6392\u3001\u65e9\u671f\u89c4\u5212\u672a\u6765\u652f\u6301\u4f53\u5236\u7b49\u3002<br><\/li>\n<\/ul>\n\n\n\n<p>\u5c06\u4ee5\u4e0a\u7b56\u7565\u6574\u5408\uff0c\u4ee5\u6784\u5efa\u9002\u5408\u6bcf\u4e00\u540d\u60a3\u8005\u4e0e\u5bb6\u5ead\u7684\u7efc\u5408\u652f\u6301\u7f51\u7edc\u81f3\u5173\u91cd\u8981\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" 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