{"id":46786,"date":"2021-10-25T23:01:38","date_gmt":"2021-10-25T14:01:38","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/19p13-13\/"},"modified":"2025-08-11T14:39:34","modified_gmt":"2025-08-11T05:39:34","slug":"19p13-13","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/19p13-13\/?lang=zh-hans","title":{"rendered":"\u65b0\u578b19p13.13\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u7efc\u5408\u75c7"},"content":{"rendered":"\n<h2 class=\"wp-block-heading hidden-heading\"><\/h2>\n\n\n\n<h3 class=\"wp-block-heading hidden-heading\"><\/h3>\n\n\n\n<p>Michelle Dolan, MD<sup>1<\/sup>, Nancy J. Mendelsohn, MD<sup>2,3<\/sup>, Mary Ella Pierpont, MD, PhD<sup>2,3,4<\/sup>, Lisa A. Schimmenti, MD<sup>4<\/sup>, Susan A. Berry, MD<sup>4<\/sup>, and Betsy Hirsch, PhD<sup>1<\/sup><\/p>\n\n\n\n<h4 class=\"wp-block-heading\">\u76ee\u7684<\/h4>\n\n\n\n<p>\u901a\u8fc7\u4ee5\u9635\u5217\u4e3a\u57fa\u7840\u7684\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6df7\u5408\u8fdb\u884c\u7684\u5168\u57fa\u56e0\u7ec4\u5206\u6790\u4f7f\u5f97\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5fae\u7f3a\u5931<\/a>\u4e0e\/<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5fae\u91cd\u590d<\/a>\u7efc\u5408\u75c7\u7684\u53d1\u73b0\u6025\u5267\u589e\u52a0\u3002\u672c\u6587\u5c06\u63cf\u8ff019p13.13\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d<\/a>\u7684\u4e34\u5e8a\u548c\u7ec6\u80de\u57fa\u56e0\u7ec4\u76f8\u5173\u6027\u3002\u65b9\u6cd5:\u5bf9\u4ecb\u7ecd\u5230\u7ec6\u80de\u9057\u4f20\u5b66\u5b9e\u9a8c\u5ba4\u8fdb\u884c\u4ee5\u9635\u5217\u4e3a\u57fa\u7840\u7684\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6df7\u5408\u5206\u6790\u7684\u60a3\u8005\u4e2d,\u9274\u5b9a\u51fa\u572819p13.13\u5185\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u76844\u4eba\u548c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u76841\u4eba\u3002\u5b9e\u65bd\u786e\u8ba4\u8367\u5149\u539f\u4f4d\u6df7\u5408\u548c\u4eb2\u4ee3\u6d4b\u8bd5\u3002\u68c0\u67e5\u5e76\u6bd4\u8f83\u8be6\u7ec6\u7684\u4e34\u5e8a\u53d1\u73b0\u548c\u9635\u5217\u6982\u51b5\u3002<\/p>\n\n\n\n<p>\u7ed3\u679c:19p13.13<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u7684\u60a3\u8005\u6709\u4e00\u7cfb\u5217\u72ec\u7279\u7684\u8868\u578b\u5f02\u5e38\u3002\u9664\u4e86\u53d1\u80b2\u969c\u788d\u4e4b\u5916\uff0c\u5728<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5fae\u7f3a\u5931<\/a>\u4e2d\u8fd8\u89c2\u5bdf\u5230\u8fc7\u5ea6\u589e\u957f\u3001\u5de8\u5934\u75c7\u4ee5\u53ca\u773c\u79d1\u548c\u80c3\u80a0\u68c0\u67e5\u7ed3\u679c\u3002\u53cd\u4e4b,\u5355\u4e00\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5fae\u91cd\u53e0<\/a>\u663e\u793a\u751f\u957f\u5ef6\u8fdf\u548c\u5c0f\u5934\u7578\u5f62\u3002\u7ed3\u8bba:\u6536\u96c6\u4e0e\u8be5\u533a\u57df\u590d\u5236\u6570\u53d8\u5f02\u76f8\u5173\u7684\u4e00\u81f4\u4e34\u5e8a\u8868\u73b0,\u79f0\u4e3a19p13.13\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u7efc\u5408\u75c7\u662f\u5408\u7406\u7684\u3002\u9274\u5b9a\u4e86\u5305\u542b16\u4e2a\u57fa\u56e0\u7684\u91cd\u53e0\u7ea6311-340Kb\u7684\u6700\u5c0f\u533a\u57df\u3002\u4f5c\u4e3a\u5019\u8865\u57fa\u56e0,\u53ef\u4ee5\u4e3e\u51faMAST1\u3001NFIX\u548cCALR\u3002\u8be5\u7efc\u5408\u75c7\u7684\u9274\u5b9a\u5efa\u8bae\u5bf9\u5177\u6709\u8be5\u590d\u5236\u6570\u53d8\u4f53\u7684\u60a3\u8005\u8fdb\u884c\u7cbe\u786e\u7684\u8bca\u65ad\u68c0\u67e5\u548c\u8ffd\u8e2a\u3002\u6574\u5408\u8be6\u7ec6\u7684\u4e34\u5e8a\u6570\u636e\u548c\u9635\u5217\u6570\u636e\u5bf9\u4e8e\u63a8\u8fdb\u60a3\u8005\u62a4\u7406\u548c\u4eba\u7c7b\u57fa\u56e0\u7ec4\u7814\u7a76\u975e\u5e38\u91cd\u8981\u3002<\/p>\n\n\n\n<p>\u6ee1\u8db3Genet 2010:12 (8) :503 -511\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>\u5173\u952e\u5b57:<\/strong><\/h4>\n\n\n\n<p>\u9635\u5217CGH\u3001\u67d3\u8272\u4f5319p13\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5fae\u7f3a\u5931<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5fae\u91cd\u590d<\/a>\u3001\u7efc\u5408\u75c7<\/p>\n\n\n\n    <a href=\"\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u90e8\u5206\u6b20\u5931\u91cd\u8907\u306e\u691c\u67fb <\/div>\n          <div class=\"blog-card-excerpt\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u3067\u306f\u3001\u59d4\u8a17\u3059\u308b\u6771\u4eac\u885b\u751f\u691c\u67fb\u6240\u3067\u3001\u90e8\u5206\u6b20\u5931\u30fb\u91cd\u8907\u75be\u60a3\u3082\u691c\u67fb\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u3053\u3068\u306b\u4f34\u3044\u3001\u598a\u5a20\u304c\u5224\u660e\u3057\u305f\u65e9\u671f\u6bb5\u968e\u304b\u3089\u5168\u67d3\u8272\u4f53\u306e\u90e8...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<p>\u901a\u8fc7\u5c06\u5fae\u9635\u5217\u6280\u672f\u7eb3\u5165\u5bf9\u60a3\u6709\u672a\u77e5\u7684\u53d1\u80b2\u969c\u788d\u6216\u8868\u578b\u5f02\u5e38\u60a3\u8005\u7684\u5e38\u89c4\u8bc4\u4f30,\u53ef\u4ee5\u8fc5\u901f\u53d1\u73b0\u8bb8\u591a\u91cd\u590d\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d<\/a>\u3002\u4f8b\u5982\uff0c\u5728\u77ed\u77ed\u4e24\u5e74\u5185\uff0c\u8fc4\u4eca\u4e3a\u6b62\u672a\u68c0\u6d4b\u5230\u76841q21.11,2\u548c16p11.23,4\u57fa\u56e0\u7ec4\u533a\u57df\u7684\u635f\u5931\/\u6216\u83b7\u5f97\u5df2\u88ab\u8ba4\u4e3a\u662f\u81ea\u95ed\u75c7\u548c\u76f8\u5173\u75be\u75c5\u7684\u6f5c\u5728\u75c5\u56e0\u3002\u5df2\u7ecf\u9488\u5bf9\u4eba\u6838\u578b\u7684\u6240\u6709\u67d3\u8272\u4f53\u5bf9\u9274\u5b9a\u4e86\u5177\u6709\u4e34\u5e8a\u610f\u4e49\u7684\u590d\u5236\u53d8\u4f53 (CNV) ,\u5176\u4e2d\u67d3\u8272\u4f53\u533a\u57df\u592a\u5c0f\u800c\u65e0\u6cd5\u901a\u8fc7\u5e38\u89c4\u7ec6\u80de\u9057\u4f20\u5b66\u68c0\u67e5\u68c0\u6d4b\u3002\u5728\u4e00\u4e9b\u590d\u5236\u6570\u53d8\u4f53\u4e2d,\u4e34\u5e8a\u75c7\u72b6\u7684\u8868\u8fbe\u548c\u6e17\u900f\u6027\u7684\u53d8\u5316\u4f7f\u5f97\u5efa\u7acb\u4e34\u5e8a\u610f\u4e49\u66f4\u52a0\u590d\u6742\u3002\u5728\u5176\u4ed6\u60a3\u8005\u4e2d\uff0c\u4e0e\u590d\u5236\u53d8\u4f53\u66f4\u4e00\u81f4\u7684\u7279\u5b9a\u8868\u578b\u53d1\u73b0\u4ee5\u53ca\u4e0e\u65b0\u9057\u4f20\u7684\u5173\u8054\u4fc3\u8fdb\u4e86\u4e34\u5e8a\u610f\u4e49\u7684\u8bc1\u660e\u3002\u5728\u6b64,\u5bf9\u6ee1\u8db3\u540e\u8005\u6807\u51c6\u7684\u67d3\u8272\u4f5319p13.13\u7684\u590d\u5236\u6570\u53d8\u5f02\u4f53\u8fdb\u884c\u8bf4\u660e\u3002\u5c3d\u7ba119\u53f7\u67d3\u8272\u4f53\u662f\u6700\u5bcc\u542b\u57fa\u56e0\u7684\u67d3\u8272\u4f53\u4e4b\u4e00(~2000\u4e2a\u57fa\u56e0\uff0c59Mb)\uff0c\u4f46\u5bf9\u4e8e\u5305\u542b19p.<sup>5-10<\/sup>\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u4e2a\u4f53,\u76f4\u5230\u76ee\u524d\u4e3a\u6b62,\u8fd9\u79cd<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d<\/a>\u7efc\u5408\u75c7\u7684\u9274\u5b9a\u662f\u7531\u4e8e4\u540d\u4e34\u5e8a\u9057\u4f20\u5b66\u5bb6\u62a5\u544a\u7684\u91cd\u8981<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u4e2a\u4f53\u7684\u4e34\u5e8a\u53d1\u73b0\u548c\u7279\u5f81\u57fa\u672c\u4e00\u81f4,\u5e76\u4e0e\u5176\u5fae\u9635\u5217\u6570\u636e\u76f8\u5173\u3002<\/p>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_83 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\/19p13-13\/?lang=zh-hans\/#%E6%9D%90%E6%96%99%E5%92%8C%E6%96%B9%E6%B3%95\" >\u6750\u6599\u548c\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-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19p13-13\/?lang=zh-hans\/#%E7%9B%AE%E6%A0%87\" >\u76ee\u6807<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19p13-13\/?lang=zh-hans\/#%E5%9F%BA%E4%BA%8E%E9%98%B5%E5%88%97%E7%9A%84%E6%AF%94%E8%BE%83%E5%9F%BA%E5%9B%A0%E7%BB%84%E6%B7%B7%E5%90%88%E5%88%86%E6%9E%90\" >\u57fa\u4e8e\u9635\u5217\u7684\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6df7\u5408\u5206\u6790<\/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\/19p13-13\/?lang=zh-hans\/#%E8%8D%A7%E5%85%89%E5%8E%9F%E4%BD%8D%E6%B7%B7%E5%90%88%E5%88%86%E6%9E%90\" >\u8367\u5149\u539f\u4f4d\u6df7\u5408\u5206\u6790<\/a><\/li><\/ul><\/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\/19p13-13\/?lang=zh-hans\/#%E7%BB%93%E6%9E%9C\" >\u7ed3\u679c<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19p13-13\/?lang=zh-hans\/#%E4%B8%B4%E5%BA%8A%E8%A1%A8%E7%8E%B0\" >\u4e34\u5e8a\u8868\u73b0<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19p13-13\/?lang=zh-hans\/#%E9%98%B5%E5%88%97-CGH%E5%88%86%E6%9E%90\" >\u9635\u5217-CGH\u5206\u6790<\/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\/19p13-13\/?lang=zh-hans\/#FISH%E5%88%86%E6%9E%90\" >FISH\u5206\u6790<\/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\/19p13-13\/?lang=zh-hans\/#%E8%80%83%E5%AF%9F\" >\u8003\u5bdf<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19p13-13\/?lang=zh-hans\/#%E6%84%9F%E8%B0%A2\" >\u611f\u8c22<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19p13-13\/?lang=zh-hans\/#%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\" >\u53c2\u8003\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9D%90%E6%96%99%E5%92%8C%E6%96%B9%E6%B3%95\"><\/span><strong>\u6750\u6599\u548c\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%9B%AE%E6%A0%87\"><\/span><strong>\u76ee\u6807<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>5\u540d\u60a3\u8005\u88ab\u4ecb\u7ecd\u5230\u660e\u5c3c\u82cf\u8fbe\u5927\u5b66\u963f\u59c6\u666e\u62c9\u8328\u513f\u7ae5\u533b\u9662\u548c\u660e\u5c3c\u82cf\u8fbe\u513f\u7ae5\u533b\u9662\u7684\u9057\u4f20\u5b66\u8bca\u6240\u8fdb\u884c\u6cbb\u7597\u3002Array-CGH\u88ab\u5b9a\u4e49\u4e3a\u5bf9\u60a3\u6709\u4e0d\u660e\u539f\u56e0\u7684\u591a\u53d1\u6027\u5f02\u5e38\u548c\/\u53d1\u80b2\u969c\u788d\u60a3\u8005\u7684\u6807\u51c6\u7cbe\u786e\u68c0\u67e5\u7684\u7ec4\u6210\u90e8\u5206\u3002\u60a3\u8005\u7684\u5e74\u9f84\u5728\u7b2c\u4e00\u6b21\u68c0\u67e5\u65f6\u4ecb\u4e8e5~26\u4e2a\u6708\u4e4b\u95f4,\u6bcf\u6b21\u75314\u540d\u4e34\u5e8a\u9057\u4f20\u5b66\u5bb6\u4e2d\u7684\u4e00\u4eba\u8fdb\u884c\u8bc4\u4f30\u3002\u4e24\u4e2a\u673a\u6784\u7684\u4e34\u5e8a\u8bd5\u9a8c\u5ba1\u67e5\u59d4\u5458\u4f1a\u6279\u51c6\u53c2\u4e0e\u8be5\u6d4b\u8bd5\uff0c\u4ee5\u5b9e\u73b0\u6570\u636e\u5171\u4eab\u548c\u7ed3\u679c\u53d1\u5e03\u3002\u4ece\u8fd9\u4e9b\u60a3\u8005\u7684\u7236\u6bcd\u90a3\u91cc\u5f97\u5230\u4e86\u77e5\u60c5\u540c\u610f\u4e66\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%9F%BA%E4%BA%8E%E9%98%B5%E5%88%97%E7%9A%84%E6%AF%94%E8%BE%83%E5%9F%BA%E5%9B%A0%E7%BB%84%E6%B7%B7%E5%90%88%E5%88%86%E6%9E%90\"><\/span><strong>\u57fa\u4e8e\u9635\u5217\u7684\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6df7\u5408\u5206\u6790<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5c06\u60a3\u8005\u672b\u68a2\u8840\u6db2\u6765\u6e90\u7684DNA\u5206\u79bb,\u5e76\u6d88\u5316\u9650\u5236\u9176,\u4f7f\u7528\u968f\u673a\u5f15\u7269\u548c\u5916\u663e\u5b50\u7247\u6bb5DNA\u805a\u5408\u9176\u7528\u8367\u5149\u67d3\u6599\u82b1\u9752\u7d205\u8fdb\u884c\u6807\u8bb0\u3002\u6765\u81ea\u6df7\u5408\u6027\u522b\u5339\u914d\u5bf9\u7167\u7684DNA\u4e0e\u8367\u5149\u67d3\u6599\u82b1\u9752\u7d203\u540c\u65f6\u6807\u8bb0\u3002\u7ed3\u5408\u60a3\u8005\u548c\u5bf9\u7167DNA,\u4f7f\u7528\u5b9a\u5236\u768444 K\u5be1\u6838\u82f7\u9178\u9635\u5217\u8fdb\u884c\u4ee5\u9635\u5217\u4e3a\u57fa\u7840\u7684\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6df7\u5408 (aCGH) ,\u6240\u8ff0\u5b9a\u5236\u768444K\u5be1\u6838\u82f7\u9178\u9635\u5217\u572835Kb\u6574\u4e2a\u4e2d\u95f4\u63a2\u9488\u95f4\u9694\u7684\u5e73\u5747\u4e3b\u5e72\u4e0a\u5305\u62ec\u6d53\u7f29\u8986\u76d6\u7684\u76ee\u6807\u533a\u57df\u3002\u4e3a\u4e86\u66f4\u51c6\u786e\u5730\u4f30\u8ba1\u5177\u6709\u6700\u5c0f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u7684\u60a3\u8005 (\u60a3\u80053) \u7684\u505c\u6b62\u70b9\u548c\u8d77\u59cb\u70b9\uff0c\u8fdb\u884c\u5e73\u5747\u7247\u95f4\u8ddd\u4e3a13Kb\u7684180K\u9635\u5217 (Agilent Technologies, Santa Clara, CA) \u3002\u4f7f\u7528\u7279\u5f81\u91cf\u63d0\u53d6\u8f6f\u4ef69.1\u621610.5 (\u5b89\u6377\u4f26\u6280\u672f) \u8ba1\u7b97\u6bcf\u4e2a\u5be1\u6838\u82f7\u9178\u4e0e\u5bf9\u7167DNA\u7684\u6bd4\u7387\uff0c\u5e76\u4f7f\u7528DNA\u5206\u67904.0.85 (\u5b89\u6377\u4f26\u6280\u672f) \u5206\u6790\u3002\u7528\u4e8e\u5206\u6790\u7684\u7edf\u8ba1\u7b97\u6cd5\u5305\u62ecADM1\u548cADM2<\/p>\n\n\n\n<p>(\u5b89\u6377\u4f26\u79d1\u6280\u516c\u53f8) \u5c06\u8be5\u9608\u503c\u8bbe\u7f6e\u4e3a\u4ee5\u5bf9\u6570\u503c\u6807\u5ea6\u4e3a0.3\u7684\u7edd\u5bf9\u503c,\u5e76\u5177\u6709\u6ee1\u8db3\u8be5\u9608\u503c\u6807\u51c6\u76843\u4e2a\u8fde\u7eed\u5be1\u805a\u8981\u6c42\u3002<\/p>\n\n\n\n<section class=\"note_table\">\n<p><strong>\u88681<\/strong> 19p13.12-p13.13\u5185\u4e27\u5931\u6216\u83b7\u5f97\u7684\u60a3\u8005\u7684\u4e34\u5e8a\u548c\u7ec6\u80de\u9057\u4f20\u5b66\u7279\u5f81<\/p>\n<div class=\"table-sp-scroll\">\n<figure>\n<table>\n<colgroup>\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n<\/colgroup>\n<thead>\n<tr>\n<th>\u60a3\u8005<\/th><th>1<\/th><th>2<\/th><th>3<\/th><th>4<\/th><th>5<\/th><th>Lysy\u7b49\u7684\u60a3\u8005<sup>8<\/sup><\/th><th>Auvin\u7b49\u7684\u60a3\u8005<sup>9<\/sup><\/th><th>Jensen\u7b49\u7684\u60a3\u8005<sup>10<\/sup><\/th><th>Engels\u7b49\u7684\u60a3\u8005<sup>7<\/sup><\/th><th>Stratton\u7b49\u7684\u60a3\u8005<sup>6<\/sup><\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td>\u7ec6\u80de\u9057\u4f20\u5b66\u7684\u5931\u8c03<\/td><td>\u7f3a\u5931 19p13.13-p13.2<\/td><td>\u7f3a\u5931 19p13.13-p13.2<\/td><td>\u7f3a\u5931 19p13.13<\/td><td>\u7f3a\u5931 19p13.13-p13.2<\/td><td>\u91cd\u590d 19p13.12-p13.2<\/td><td>\u7f3a\u5931 19p13.13-p13.2<\/td><td>\u7f3a\u5931 19p13.13<\/td><td>\u7f3a\u5931 19p13.12<\/td><td>\u7f3a\u5931 19p13.12<\/td><td>\u91cd\u590d 19p13.13-p13.2<\/td>\n<\/tr>\n<tr>\n<td>\u65ad\u70b9 (\u6700\u5c0f)<\/td><td>12,498,237\u201313,126,508<\/td><td>12,536,641\u201313,794,080<\/td><td>12,793,474\u201313,104,643<\/td><td>12,411,017\u201313,120,904<\/td><td>12,601,112\u201314,488,238<\/td><td>10,256,871\u201313,188,698<\/td><td>12,615,927\u201313,280,259<\/td><td>13,838,264\u201316,357,778<\/td><td>\u65e0\u8bb0\u8f7d<\/td><td>\u65e0\u8bc4\u4ef7<\/td>\n<\/tr>\n<tr>\n<td>\u5927\u5c0f(min)<\/td><td>0.6 Mb<\/td><td>1.3 Mb<\/td><td>0.3 Mb (311 Kb)<\/td><td>0.7 Mb<\/td><td>1.9 Mb<\/td><td>2.9 Mb<\/td><td>0.6 Mb<\/td><td>2.5 Mb<\/td><td>2.1 Mb<\/td><td>\u65e0\u8bb0\u8f7d<\/td>\n<\/tr>\n<tr>\n<td>\u65ad\u70b9 (\u6700\u5927)<\/td><td>12,476,664\u201313,178,511<\/td><td>12,521,732\u201313,854,243<\/td><td>12,779,366\u201313,120,858<\/td><td>12,335,402\u201313,126,464<\/td><td>12,582,355\u201314,503,887<\/td><td>10,246,651\u201313,280,203<\/td><td>\u65e0\u8bb0\u8f7d<\/td><td>\u65e0\u8bb0\u8f7d<\/td><td>\u65e0\u8bb0\u8f7d<\/td><td>\u65e0\u8bb0\u8f7d<\/td>\n<\/tr>\n<tr>\n<td>\u5927\u5c0f(max)<\/td><td>0.7 Mb<\/td><td>1.3 Mb<\/td><td>0.3 Mb (341 Kb)<\/td><td>0.8 Mb<\/td><td>1.9 Mb<\/td><td>3.0 Mb<\/td><td>0.7 Mb<\/td><td>\u65e0\u8bb0\u8f7d<\/td><td>\u65e0\u8bb0\u8f7d<\/td><td>\u65e0\u8bb0\u8f7d<\/td>\n<\/tr>\n<tr>\n<td colspan=\"11\">\u521d\u6b65\u68c0\u9a8c<\/td>\n<\/tr>\n<tr>\n<td>\u5e74\u9f84<\/td><td>2\u5c81<\/td><td>2\u5c81<\/td><td>0.75\u5c81<\/td><td>0.5\u5c81<\/td><td>3\u5c81<\/td><td>\u51fa\u751f<\/td><td>\u6b63\u5e38\u51fa\u751f\u65f6\u7684\u751f\u957f\u53c2\u6570<\/td><td>\u51fa\u751f<\/td><td>\u51fa\u751f<\/td><td>\u51fa\u751f<\/td>\n<\/tr>\n<tr>\n<td>\u957f\u5ea6(%ile)<\/td><td>50th<\/td><td>&gt;95th<\/td><td>90th<\/td><td>90th<\/td><td>&lt;5th<\/td><td>&lt;-2<\/td><td>SD<\/td><td>\u65e0\u8bb0\u8f7d<\/td><td>&lt;3rd<\/td><td>25\u201350th<\/td>\n<\/tr>\n<tr>\n<td>\u4f53\u91cd(%ile)<\/td><td>75th<\/td><td>&gt;95th<\/td><td>50\u201375th<\/td><td>90th<\/td><td>25th<\/td><td>&lt;-2<\/td><td>SD<\/td><td>&lt;1st<\/td><td>\u65e0\u8bb0\u8f7d<\/td><td>20th<\/td>\n<\/tr>\n<tr>\n<td>\u6795\u524d\u533a\u7684\u5468\u957f(%ile)<\/td><td>&gt;97th<\/td><td>&gt;95th<\/td><td>&gt;98th<\/td><td>&gt;98th<\/td><td>&lt;-2 SD<\/td><td>-2<\/td><td>SD<\/td><td>\u65e0\u8bb0\u8f7d<\/td><td>&lt;&lt;3rd<\/td><td>15th<\/td>\n<\/tr>\n<tr>\n<td>\u5934\u9885\u9762<\/td><td>\u5927\u5934\u75c7\uff0c\u524d\u989d\u9686\u8d77<\/td><td>\u5927\u5934\u75c7\uff0c\u524d\u989d\u9686\u8d77,\u5507\u816d\u88c2<\/td><td>\u5927\u5934\u75c7\uff0c\u524d\u989d\u9686\u8d77,\u5507\u816d\u88c2<\/td><td>\u5927\u982d\u75c7\u3001\u524d\u982d\u9686\u8d77<\/td><td>\u5c0f\u5934\u7578\u5f62\uff0c\u524d\u989d\u9686\u8d77,\u5507\u816d\u88c2<\/td><td>\u590d\u6742\u9885\u9aa8\u95ed\u5408\u75c7,\u524d\u989d\u9686\u8d77,\u9f3b\u7ffc\u5c0f,\u9f3b\u6881\u4f4e<\/td><td>\u5de8\u5927\u5316,\u9ad8,\u5927\u7684\u989d\u5934,\u5e73\u5766\u7684\u4eba\u4e2d,\u5634\u5df4\u5c0f<\/td><td>\u540e\u6795\u90e8\u6241\u5e73,\u9ad8\u989d\u5934,\u4e0b\u5782\u7684\u9f3b\u7ffc,\u820c\u5934\u957f,\u9f3b\u7ffc\u77ed<\/td><td>\u5fae\u578b\/\u9ed1\u8272,\u8584\u4e0a\u5507,\u957f\u4eba\u4e2d,\u5634\u5df4\u5c0f\/td><td>\u5fae\u7f29\u8840\u7ba1\uff0c\u4e24\u4fa7\u9686\u8d77\uff0c\u5411\u4e0a\u7684PF<\/td>\n<\/tr>\n<tr>\n<td>\u773c\u79d1<\/td><td>\u5185\u659c\u89c6\uff0c\u773c\u7403\u9707\u98a4\uff0c\u56fa\u5b9a\u4e0d\u826f<\/td><td>\u89c6\u795e\u7ecf\u53d1\u80b2\u4e0d\u826f\uff0c\u5916\u659c\u89c6<\/td><td>\u89c6\u795e\u7ecf\u53d1\u80b2\u4e0d\u826f\uff0c\u5916\u659c\u89c6<\/td><td>\u89c6\u795e\u7ecf\u840e\u7f29\uff0c\u5916\u659c\u89c6<\/td><td>\u89c6\u795e\u7ecf\u53d1\u80b2\u4e0d\u826f\uff0c\u5916\u659c\u89c6\uff0c\u773c\u7403\u9707\u98a4<\/td><td>\u773c\u7a9d\u53d1\u80b2\u4e0d\u5168,\u53cc\u773c\u9694\u79bb\u75c7,\u773c\u7403\u7a81\u51fa,\u659c\u89c6<\/td><td>\u65e0\u6309\u952e<\/td><td>\u659c\u89c6\uff0c\u89c6\u795e\u7ecf\u76d8\u7a81\u51fa,\u773c\u7751\u4e0b\u5782\u548c\u5185\u773c\u89d2\u5197\u957f\u76ae<\/td><td>\u5185\u773c\u89d2\u5197\u9577\u76ae<\/td><td>\u95f4\u6b47\u6027\u773c\u7403\u7a81\u51fa<\/td>\n<\/tr>\n<tr>\n<td>GI<\/td><td>\u6162\u6027\u8179\u6cfb<\/td><td>\u8179\u75db\uff0c\u5455\u5410\uff0c\u8fdb\u98df\u4e0d\u826f<\/td><td>\u65e0<\/td><td>\u8179\u75db\u3001\u5455\u5410\u3001\u4e73\u7cdc\u6cfb<\/td><td>\u8179\u75db\u3001\u5455\u5410\u3001FTT (G\u7ba1)<\/td><td>\u65e0\u8bb0\u8f7d<\/td><td>\u4e25\u91cd\u4fbf\u79d8<\/td><td>\u65e0\u8bb0\u8f7d<\/td><td>\u65e0\u8bb0\u8f7d<\/td><td>\u51fa\u751f\u540e\u8179\u7ede\u75db<\/td>\n<\/tr>\n<tr>\n<td>\u8133<\/td><td>\u6b63\u5e38<\/td><td>\u8f7b\u5ea6\u840e\u7f29\uff0c\u524d\u989d\u53f6<\/td><td>\u65e0\u5ef6\u9ad3\u3001\u56ca\u6027\u75c5\u53d8<\/td><td>\u897f\u6797\u514b\u65af\u7684\u57fa\u4e9a\u5229I\u7578\u5f62<\/td><td>\u6838\u78c1\u5171\u632f\u6b63\u5e38\u6210\u50cf<\/td><td>\u4e2d\u5ea6\u8111\u5ba4\u6269\u5f20<\/td><td>\u5178\u578b\u6838\u78c1\u5171\u632f\u6210\u50cf<\/td><td>\u8f7b\u5ea6\u5c0f\u8111\u6881\u53ca\u5c0f\u8111\u5b9e\u8d28\u53d1\u80b2\u4e0d\u826f,\u80ce\u819c\u65e9\u7834\u7b2c4\u901a\u6c14\u53e3<\/td><td>\u6b63\u5e38<\/td><td>\u5e38\u89c4\u5934\u9885CT<\/td>\n<\/tr>\n<tr>\n<td>\u53d1\u4f5c<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>\u65e0\u8bb0\u8f7d<\/td><td>+<\/td><td>\u65e0\u8bb0\u8f7d<\/td><td>\u65e0\u8bb0\u8f7d<\/td><td>\u65e0\u8bb0\u8f7d<\/td>\n<\/tr>\n<tr>\n<td>\u808c\u5f20\u529b\u51cf\u9000<\/td><td>+<\/td><td>&#8211;<\/td><td>+<\/td><td>+<\/td><td><ruby><rb>\u659c\u9888<\/rb><rt style=\"font-size:.5rem\">\u659c\u9888<\/rt><\/ruby><\/td><td>+<\/td><td>+<\/td><td>\u65e0\u8bb0\u8f7d<\/td><td>+<\/td><td>\u65e0\u8bb0\u8f7d<\/td>\n<\/tr>\n<tr>\n<td>\u53d1\u80b2\u8fdf\u7f13<\/td><td>\u5168\u6bd4\u4f8bIQ 49<\/td><td>\u57283\u5e74\u5185\u638c\u63e118\u4e2a\u6708\u7684\u6280\u80fd\u3002\u660e\u663e\u7684\u8bed\u8a00\u8fdf\u7f13<\/td><td>\u51e0\u4e4e\u975e\u8bed\u8a00\u7684<\/td><td>\u4e2d\u7b49\u7a0b\u5ea6\u7684\u8bed\u8a00\u8fdf\u7f13\uff0c\u9700\u8981\u7279\u522b\u7684\u6559\u80b2\u3002<\/td><td> \u57284.5\u5e74\u5185\u670921\u301c29\u4e2a\u6708\u7684\u6280\u80fd\u3002\u660e\u663e\u7684\u8bed\u8a00\u8fdf\u7f13<\/td><td>\u670933\u4e2a\u6708\u30023.7\u5e74\u5185\u65e0\u8bed\u8a00<\/td><td>2\u5e74\u540e\u661f\u671f\u516d \u300c\u7cbe\u795e\u8fd0\u52a8\u5ef6\u8fdf\u300d<\/td><td>\u5168\u6bd4\u4f8bIQ 63<\/td><td>16\u4e2a\u6708\u540e\u722c\u884c\u3002\u6ca1\u6709\u8bb2\u8bdd<\/td><td>4\u4e2a\u6708\u6ca1\u6709\u8fbe\u5230\u9a6c\u8fbe\u7684\u91cc\u7a0b\u7891<\/td>\n<\/tr>\n<tr>\n<td colspan=\"11\">\u6700\u7ec8\u8bd5\u9a8c<\/td>\n<\/tr>\n<tr>\n<td>\u5e74\u9f84<\/td><td>6\u5c81<\/td><td>3\u5c81<\/td><td>14.5\u5c81<\/td><td>9.5\u5c81<\/td><td>7\u5c81<\/td><td>3.7\u5c81<\/td><td>2\u5c81<\/td><td>\u65e0\u8bb0\u8f7d<\/td><td>1.5\u5c81<\/td><td>0.75\u5c81<\/td>\n<\/tr>\n<tr>\n<td>\u8eab\u9ad8 (\u767e\u5206\u6bd4)<\/td><td>86th<\/td><td>&gt;95th<\/td><td>50th<\/td><td>75th<\/td><td>&lt;3rd<\/td><td>-3 SD<\/td><td>&gt;+3 SD<\/td><td>\u65e0\u8bb0\u8f7d<\/td><td>&lt;3rd<\/td><td>50th<\/td>\n<\/tr>\n<tr>\n<td>\u4f53\u91cd(\u767e\u5206\u6bd4)<\/td><td>55th<\/td><td>&gt;95th<\/td><td>10\u201325th<\/td><td>50\u201375th<\/td><td>50th<\/td><td>-0.9 SD<\/td><td>+2 SD<\/td><td>\u65e0\u8bb0\u8f7d<\/td><td>&lt;3rd<\/td><td>5th<\/td>\n<\/tr>\n<tr>\n<td>\u6795\u53f6\u524d\u5468\u957f (\u767e\u5206\u6bd4)<\/td><td>&gt;97th<\/td><td>&gt;95th<\/td><td>&gt;98th<\/td><td>&gt;98th<\/td><td>-2 SD<\/td><td>-0.7 SD<\/td><td>+2.5 SD<\/td><td>\u65e0\u8bb0\u8f7d<\/td><td>&lt;&lt;3rd<\/td><td>&lt;5th\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/figure>\n<\/div>\n<\/section>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%8D%A7%E5%85%89%E5%8E%9F%E4%BD%8D%E6%B7%B7%E5%90%88%E5%88%86%E6%9E%90\"><\/span><strong>\u8367\u5149\u539f\u4f4d\u6df7\u5408\u5206\u6790<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8fdb\u884c\u8367\u5149\u539f\u4f4d\u6df7\u5408 (FISH) \u4ee5\u786e\u8ba4\u5148\u53d1\u8005\u4e2d\u5b58\u5728<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\/\u6216<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>,\u5e76\u6d88\u9664\u53cc\u4eb2\u4e2d\u7684\u67d3\u8272\u4f53\u95f4\u91cd\u590d\u5e8f\u5217,\u5982\u679c\u53d1\u73b0\u7684\u8bdd,\u8fd9\u5c06\u5bf9\u590d\u53d1\u98ce\u9669\u4ea7\u751f\u91cd\u8981\u5f71\u54cd\u3002\u9009\u62e9\u7528\u6765\u63a2\u6d4bFISH\u7684BAC\u4e3aRP11-654K9 (\u5305\u62ecMAST1) \u3001RP11-963I8 (\u5305\u62ecNFIX) \u3001RP11-14L14 (\u5305\u62ecCACNA1A) \u548c\u60a3\u80055\u7684RP11-56K21 (\u5305\u62ecPKN1) \u3002RP11 -654K9\u3001RP11 -14L14\u548cRP11-56K21\u7684\u5b58\u6839\u4eceCHORI BAC\/PAC\u8d44\u6e90\u83b7\u5f97\uff0c\u4f7f\u7528\u6c2f\u9709\u7d20\u5728\u6d1b\u6c0f\u6eb4\u5316\u677f\u4e0a\u589e\u6b96,\u5e76\u901a\u8fc7\u8f6c\u57fa\u56e0 (Abbott Molecular, Abbott Park, IL) \u8fdb\u884c\u6807\u8bb0\u3002\u9884\u5148\u6807\u8bb0\u4e3aEnzo-Green\u7684RP11-963I8\u6765\u81eaEmpire Genomics (Empire Genomics, Buffalo,\u7ebd\u7ea6)\u300219 q\u4e9a\u7aef\u7c92\u9762\u79ef (D19S238E);Abbott Molecular) \u7684\u63a2\u9488\u4e5f\u7528\u4f5c\u5bf9\u7167\u3002\u4e3a\u4e86\u8bc4\u4f30<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\"> \u7f3a\u5931<\/a>\u7684\u5b58\u5728\uff0c\u5bf910\u4e2a\u4e2d\u671f\u7ec6\u80de\u8fdb\u884c\u8bc4\u5206\uff0c\u5e76\u5bf975~100\u4e2a\u95f4\u671f\u7ec6\u80de\u8fdb\u884c\u8bc4\u5206\u4ee5\u8bc4\u4f30<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u7684\u5b58\u5728\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%BB%93%E6%9E%9C\"><\/span><strong>\u7ed3\u679c<\/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%B4%E5%BA%8A%E8%A1%A8%E7%8E%B0\"><\/span><strong>\u4e34\u5e8a\u8868\u73b0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6bcf\u4e2a\u60a3\u8005\u7684\u8be6\u7ec6\u75c5\u53f2\u548c\u53d1\u73b0\u5982\u4e0b\u5e76\u603b\u7ed3\u4e8e\u88681\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>\u60a3\u80051<\/strong><\/h4>\n\n\n\n<p>\u8be5\u5973\u5b69\u51fa\u751f\u65f6\u662f\u8db3\u6708\u5206\u5a29 (\u51fa\u751f\u65f6\u4f53\u91cd4026\u514b) (\u56fe1) \u3002\u65b0\u751f\u513f\u671f\u7684\u5f02\u5e38\u6709\u9ec4\u75b8\u548c\u9700\u8981\u5207\u65ad\u820c\u7cfb\u5e26\u7684\u65e0\u6cd5\u6bcd\u4e73\u5582\u517b\u3002\u5979\u7684\u7236\u6bcd\u4e00\u76f4\u5bf9\u59793\u4e2a\u6708\u5927\u65f6\u7684\u53d1\u80b2\u611f\u5230\u62c5\u5fe7,\u4f46\u968f\u7740\u5e74\u9f84\u7684\u589e\u957f,\u8fd9\u4e00\u70b9\u53d8\u5f97\u660e\u663e,\u968f\u7740\u65f6\u95f4\u7684\u63a8\u79fb,\u5305\u62ec\u8089\u773c\u53ef\u89c1\u7684\u8fd0\u52a8\u548c\u8bed\u8a00\u5ef6\u8fdf\u3002\u773c\u79d1\u548c\u89c6\u89c9\u95ee\u9898\u5305\u62ec\u5185\u659c\u89c6\u3001\u773c\u7403\u8fd0\u52a8\u98a4\u52a8\u3001\u8fdc\u89c6\u773c\u7403\u9707\u98a4\u548c\u4e0d\u5b8c\u5168\u56fa\u5b9a\u3002\u60a3\u8005\u89c6\u529b\u53d1\u80b2\u4e0d\u6210\u719f,\u968f\u65f6\u95f4\u9010\u6e10\u597d\u8f6c,\u5e76\u63a5\u53d7\u4e862\u6b21\u624b\u672f\u4ee5\u77eb\u6b63\u659c\u89c6\u3002\u6700\u521d\u76844\u5e74\u5b58\u5728\u80c3\u80a0\u9053\u75be\u75c5,\u5176\u7279\u5f81\u5728\u4e8e\u672a\u77e5\u75c5\u56e0\u7684\u6162\u6027\u8179\u6cfb\u300222\u4e2a\u6708\u540e\u7684\u8eab\u4f53\u68c0\u67e5\u663e\u793a\u5927\u5934\u75c7 (&gt;97\u4e2a\u767e\u5206\u6bd4) ,\u8eab\u9ad8\u536050\u4e2a\u767e\u5206\u6bd4,\u4f53\u91cd\u536075\u4e2a\u767e\u5206\u6bd4\u3002\u89c2\u5bdf\u5230\u9f3b\u6865\u51f9\u9677\uff0c\u9f3b\u5c16\u5411\u4e0a\uff0c\u9664\u4e86\u5177\u6709\u76f8\u5bf9\u9ad8\u62f1\u5f62\u7684\u4e0a\u816d\u7684\u5c0f\u5634\u4e4b\u5916\uff0c\u8fd8\u89c2\u5bdf\u5230\u660e\u663e\u7684\u524d\u989d\u9686\u8d77\uff0c\u4f34\u6709\u7736\u4e0a\u9686\u8d77\u548c\u6df1\u7f6e\u773c\u3002\u5979\u7684\u624b\u6307\u548c\u811a\u8dbe\u5f88\u957f\uff0c\u811a\u5e95\u6709\u5f88\u6df1\u7684\u76b1\u7eb9\u3002\u60a3\u8005\u5f20\u529b\u4f4e,\u6df1\u8171\u53cd\u5c04\u7387\u826f\u597d\u3002\u572830\u4e2a\u6708\u540e\u7684\u68c0\u67e5\u4e2d\uff0c\u8eab\u9ad8\u548c\u4f53\u91cd\u8d85\u8fc780\u767e\u5206\u6bd4\u6bb5,\u6795\u9aa8\u524d\u5468&gt;97\u767e\u5206\u6bd4,\u4f4622\u4e2a\u6708\u540e\u4ec5\u589e\u52a00.3\u5398\u7c73\u3002\u57286\u5c81\u65f6\u8fdb\u884c\u7684\u8ffd\u8e2a\u8c03\u67e5\u663e\u793a,\u8eab\u9ad8\u536086%,\u4f53\u91cd\u536055%,\u540e\u989d\u5468\u957f1SD\u8d85\u8fc797%\u3002\u6839\u636eWechsler\u7684\u6700\u65b0\u8bc4\u4f30\uff0c\u5b66\u9f84\u524d\u84c4\u7535\u6c60\u7684\u8bed\u8a00IQ\u4e3a61,\u6548\u80fdIQ\u4e3a47,\u5168\u6bd4\u4f8bIQ\u4e3a49\u3002\u5979\u7684\u7ec6\u5fae\u8fd0\u52a8\u80fd\u529b\u548c\u89c6\u89c9\u8fd0\u52a8\u80fd\u529b\u7ecf\u8fc7\u53cd\u590d\u8bc4\u4f30,\u76f8\u5bf9\u6bd4\u8f83\u843d\u540e\u3002X\u7ebf\u548cCT\u68c0\u67e5\u9885\u9aa8\u548c\u9aa8\u9f84\u6b63\u5e38\u3002\u8111\u7684\u6838\u78c1\u5171\u632f\u6210\u50cf (MRI) \u663e\u793a\u89c6\u4ea4\u53c9\u524d\u89c6\u795e\u7ecf\u8f7b\u5ea6\u53d1\u80b2\u4e0d\u826f,\u4f46\u8111\u7ed3\u6784\u6b63\u5e38\u3002<\/p>\n\n\n\n<p>\u5fc3\u7535\u56fe\u548c\u80be\u810f\u8d85\u58f0\u6ce2\u6b63\u5e38\u3002\u5b9e\u9a8c\u5ba4\u68c0\u67e5\u7ed3\u679c\u663e\u793a\u6b63\u5e38\u768446,XX\u6838\u578b (550\u6761\u5e26\u6c34\u5e73\u5206\u8fa8\u7387) ,\u6b63\u5e38\u7684\u5c3f\u6db2\u4ee3\u8c22\u7b5b\u67e5\u548c\u6b63\u5e38\u7684\u8840\u6e05\u6c28\u57fa\u9178\u3001\u6c28\u3001\u4e73\u9178\u548c\u4e19\u916e\u9178\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\">\u60a3\u80052<\/h4>\n\n\n\n<p>\u8fd9\u4e2a\u5973\u5b69\u51fa\u751f\u65f6\u4e3a\u8db3\u6708\u5206\u5a29 (\u51fa\u751f\u65f6\u4f53\u91cd2835\u514b) \u30026\u4e2a\u6708\u540e\uff0c\u89c2\u5bdf\u5230\u89c6\u89c9\u548c\u7ec6\u5fae\u8fd0\u52a8\u53d1\u80b2\u5ef6\u8fdf,\u5e76\u4e14\u65e0\u6cd5\u5728\u89c6\u89c9\u4e0a\u805a\u7126\u548c\u8ffd\u8e2a\u3002\u60a3\u8005\u60a3\u6709\u5de8\u5934\u75c7\uff0c\u6795\u524d\u76ae\u8d28\u5468\u957f46.5 cm (&gt;95\u767e\u5206\u4f4d) \uff0c\u773c\u7751\u4e0b\u88c2\u30027\u4e2a\u6708\u5927\u5a74\u513f\u53d1\u80b2\u7684Bailey\u5a74\u513f\u53d1\u80b2\u6d4b\u8bd5\u4e3a3\u4e2a\u6708,\u89c6\u89c9\u8fd0\u52a8\u6c34\u5e73\u4e3a2~5\u4e2a\u6708,\u7ec6\u5fae\u8fd0\u52a8\u6c34\u5e73\u4e3a1\u4e2a\u6708\u300215\u4e2a\u6708\u540e\u8111\u6ce2\u6b63\u5e38,\u542c\u529b\u6b63\u5e38\u300217\u4e2a\u6708\u540e\uff0c\u60a3\u8005\u51fa\u73b0\u4e0e\u5455\u5410\u76f8\u5173\u7684\u6162\u6027\u548c\u77ed\u6682\u8179\u75db\u3002\u5927\u8111\u6838\u78c1\u5171\u632f\u663e\u793a\u6709\u8f7b\u5ea6\u840e\u7f29,\u5c24\u5176\u662f\u524d\u989d\u53f6\u840e\u7f29\u3002\u4f34\u6709\u5916\u659c\u89c6,\u773c\u79d1\u68c0\u67e5\u793a\u53cc\u4fa7\u89c6\u795e\u7ecf\u53d1\u80b2\u4e0d\u826f\u3002\u5fc3\u8df3\u548c\u80be\u810f\u58f0\u97f3\u6b63\u5e38\u3002\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790\u663e\u793a\u6b63\u5e38\u768446\u548cXX\u6838\u578b\u3002\u4e34\u5e8a\u8868\u73b0\u63d0\u793a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">Sotos\u7efc\u5408\u75c7<\/a>,\u8fdb\u884cNSD1\u6d4b\u5e8f,\u5176\u7ed3\u679c\u4e3a\u9634\u6027\u3002\u8ffd\u8e2a\u8bc4\u4f30\u663e\u793a\u8bed\u8a00\u548c\u53d1\u80b2\u5ef6\u8fdf\u6301\u7eed,3\u5c81\u65f6\u7684\u80fd\u529b\u6c34\u5e73\u7ea6\u4e3a18\u4e2a\u6708,\u8bed\u8a00\u5ef6\u8fdf (\u8bed\u8a00\u4e27\u5931) \u663e\u7740,\u6795\u9aa8\u524d\u533a\u5468\u957f\u8d85\u8fc795%\u7684\u6301\u7eed\u6027\u5927\u5934\u7578\u5f62\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\">\u60a3\u80053<\/h4>\n\n\n\n<p>\u8be5\u7537\u5b69\u51fa\u751f\u65f6\u4f53\u91cd3884g,\u5a74\u513f\u671f\u5448\u73b0\u5de8\u5934\u75c7,\u989d\u5934\u5bbd\u5927,\u524d\u989d\u9686\u8d77,\u773c\u7751\u4e0b\u659c\u88c2,\u808c\u5f20\u529b\u4e0b\u964d,\u53d1\u80b2\u660e\u663e\u5ef6\u8fdf (\u56fe1) \u3002\u60a3\u8005\u57284\u5c81\u65f6\u53d1\u751f\u766b\u75eb\u5e76\u53d7\u5230\u836f\u7269\u63a7\u5236\u3002\u4e3a\u4e86\u77eb\u6b63\u659c\u89c6\u548c\u4e0a\u7751\u540e\u9000 (\u51f9\u9677\u7684\u773c\u7a9d\u548c\u7728\u773c\u51cf\u5c11) ,\u63a5\u53d7\u4e862\u6b21\u624b\u672f\u3002\u4ece\u5a74\u513f\u671f\u523014\u5c81\uff0c\u4ed6\u7684\u5de8\u5934\u75c7\u6301\u7eed\u5b58\u5728 (\u540e\u989d\u5468\u957f&gt;98%) ,\u4f46\u8eab\u9ad8\u9010\u6e10\u4ece90%\u4e0b\u964d\u523050%,\u4f53\u91cd\u4ece50-75%\u4e0b\u964d\u523010-25%\u3002\u773c\u79d1\u8ffd\u8e2a\u663e\u793a\u89c6\u795e\u7ecf\u840e\u7f29\u53d1\u751f\u57288\u5c81 (\u6838\u78c1\u5171\u632f\u6210\u50cf\u663e\u793a\u6b63\u5e38\u89c6\u795e\u7ecf) \u81f311\u5c81 (\u7403\u5f62\u540e,\u89c6\u4ea4\u53c9\u524d,\u89c6\u4ea4\u53c9\u89c6\u795e\u7ecf\u53d1\u80b2\u4e0d\u826f) \u4e4b\u95f4\u3002\u5728\u6700\u8fd1\u7684\u68c0\u67e5\u4e2d (14.5\u5c81) \uff0c\u8eab\u9ad8\u4e3a25~50%,\u4f53\u91cd\u4e3a10~25%,\u5934\u56f4\u4e3a98%\u3002&nbsp;\u53d8\u5f62\u7279\u5f81<\/p>\n\n\n\n<p>\u989c\u9762\u5f20\u529b\u4f4e,\u8033\u6735\u5927,\u4e0a\u816d\u9ad8,\u7259\u9f7f\u5bc6\u96c6,\u624b\u638c\u5927,\u8db3\u6241\u5e73\u7b49\u3002\u4ed6\u6709\u4e25\u91cd\u7684\u8a00\u8bed\u5ef6\u8fdf\uff0c\u9664\u4e86\u51e0\u4e2a\u53ef\u4f9b\u9009\u62e9\u7684\u8bcd\u6c47\u5916,\u6ca1\u6709\u4efb\u4f55\u8bed\u8a00\u8868\u8fbe\u3002\u5927\u8111\u6838\u78c1\u5171\u632f\u6210\u50cf\u663e\u793a\u672a\u77e5\u7684\u6162\u6027\u6795\u9aa8\u56ca\u6027\u75c5\u53d8\u548c\u80fc\u80dd\u4f53\u7684\u5634\u4fa7\u7f3a\u5931\u3002\u5728\u8fde\u7eed\u7684\u80be\u810f\u8d85\u58f0\u6ce2\u68c0\u67e5\u4e2d,\u53d1\u73b0\u5de6\u4fa7\u80be\u76c2\u6269\u5f20\u6216\u9686\u8d77,\u89e3\u91ca\u4e3a\u7a33\u5b9a\u7684\u80be\u76c2\u5916\u3002\u7ec6\u80de\u9057\u4f20\u5b66\u68c0\u67e5\u663e\u793a46\u4e2a\u6b63\u5e38\u7684XY\u6838\u578b (\u5206\u8fa8\u7387\u4e3a550\u6761\u5e26\u6c34\u5e73) \uff0c\u5206\u5b50\u68c0\u67e5\u663e\u793aNSD1\u6216FMR1<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u6216\u7a81\u53d8\u4e3a\u9634\u6027\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"913\" height=\"661\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/19p13.13-a.jpg\" alt=\"\" class=\"wp-image-18566\"\/><\/figure>\n\n\n\n<h4 class=\"wp-block-heading\">\u60a3\u80054<\/h4>\n\n\n\n<p>\u8be5\u5973\u5b69\u4e3a\u8db3\u6708\u51fa\u751f (\u51fa\u751f\u65f6\u4f53\u91cd4097g) ,\u5728\u5a74\u513f\u671f\u8868\u73b0\u51fa\u4f4e\u808c\u5f20\u529b,\u5de8\u5934\u75c7,\u7a81\u51fa\u7684\u773c\u7403\u548c\u5de8\u5927\u7684\u84dd\u8272\u8679\u819c,\u5916\u659c\u89c6,\u5e76\u4e14\u5728\u4e00\u5e74\u5185\u89c2\u5bdf\u5230\u89c6\u795e\u7ecf\u82cd\u767d (\u56fe1) \u3002\u5176\u4ed6\u4e34\u5e8a\u8868\u73b0\u6709\u9f3b\u6881\u4e0a\u7fd8\u3001\u8138\u8272\u53d1\u6697\u30016\u4e2a\u6708\u7259\u72b6\u7684\u725b\u5976\u5496\u5561\u6591 (cafe-au-lait) \u3001\u808c\u9635\u631b (myoclonic jerks) ,9\u5c81\u65f6\u51fa\u73b01\u6b21\u5ef6\u8fdf\u6027\u53d1\u4f5c\u3002\u8111\u7535\u56fe\u672a\u68c0\u6d4b\u5230\u766b\u75eb\u3002\u89c2\u5bdf\u5230\u8fd0\u52a8\u548c\u8a00\u8bed\u5ef6\u8fdf\uff0c\u5305\u62ec2~3\u5e74\u7684\u884c\u8d70,2\u5e74\u524d\u7684\u6784\u97f3\u969c\u788d\u3002\u7b2c4\u5e74\u63a5\u53d7\u659c\u89c6\u624b\u672f,\u65e9\u671f\u89c6\u7269\u6a21\u7cca\u75c7\u72b6\u968f\u65f6\u95f4\u597d\u8f6c\u3002\u57287~9\u5e74\u95f4,\u4ed6\u51fa\u73b0\u4e86\u4e73\u7cdc\u6cfb\u7684\u75c7\u72b6,\u996e\u98df\u4e2d\u4e0d\u542b\u9eb8\u8d28\u3002\u5728\u6700\u8fd1\u4e00\u6b219.5\u5c81\u65f6\u7684\u68c0\u67e5\u4e2d\uff0c\u5979\u9700\u8981\u7279\u6b8a\u7684\u6559\u80b2\u670d\u52a1\u5e76\u4e14\u8bcd\u6c47\u91cf\u660e\u663e\u589e\u52a0\u30025\u4e2a\u6708\u540e\u8111\u90e8\u6838\u78c1\u5171\u632f\u6b63\u5e38,\u4f464\u5e74\u540e\u91cd\u590d\u68c0\u67e5\u663e\u793aChiari I\u578b\u7578\u5f62 (\u810a\u9ad3\u7a7a\u6d1e\u75c7,5\u5c81\u65f6\u624b\u672f\u51cf\u538b) ,\u89c6\u4ea4\u53c9\u548c\u9885\u5185\u89c6\u795e\u7ecf\u53d1\u80b2\u4e0d\u826f\u3002\u5b9e\u9a8c\u5ba4\u68c0\u67e5:\u4ee3\u8c22\u68c0\u67e5(\u8840\u6e05\u6c28\u57fa\u9178\u3001\u8840\u6db2\u957f\u94fe\u8102\u80aa\u9178\u3001\u5c3f\u6709\u673a\u9178\u3001\u808c\u8089\u6d3b\u68c0\u548c\u7ebf\u7c92\u4f53DNA\u68c0\u6d4b)\u3001\u7ec6\u80de\u9057\u4f20\u5b66\u68c0\u67e5 (750\u6761\u5e26\u6c34\u5e73\u5206\u8fa8\u7387) \u53caNF1\u7a81\u53d8\u5206\u6790\u5747\u6b63\u5e38\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\">\u60a3\u80055<\/h4>\n\n\n\n<p>\u8fd9\u4e2a\u7537\u5b69\u51fa\u751f\u65f6\u5b55\u9f84\u4e3a36\u5468 (\u51fa\u751f\u65f6\u4f53\u91cd2835\u514b) \u30022\u4e2a\u6708\u540e\u51fa\u73b0\u8fdb\u98df\u969c\u788d\u3001\u4fbf\u79d8\u3001\u5455\u5410\u9891\u7e41\u3001\u70e6\u8e81\u4e0d\u5b89\u3001\u591a\u53d1\u6027\u611f\u67d3,\u9762\u8272\u8f83\u5176\u540c\u80de\u6de1\u300214\u4e2a\u6708\u540e\u4f53\u91cd\u3001\u8eab\u9ad8\u3001\u6795\u524d\u533a\u5468\u957f\u5747\u5c0f\u4e8e5%\u3002\u5176\u4ed6\u4e34\u5e8a\u8868\u73b0\u4e3a\u524d\u989d\u503e\u659c\u3001\u9f3b\u7ffc\u72ed\u7a84\u3001\u4e73\u5934\u5012\u7f6e\u3001\u81c0\u90e8\u8102\u80aa\u5206\u5e03\u5f02\u5e38\u3002\u60a3\u8005\u60a3\u6709\u766b\u75eb,\u6bcf\u5929\u4ece\u5de6\u989d\u989e\u53f6\u7684\u7126\u70b9\u5904\u53d1\u4f5c\u7ea64~5\u6b21\u3002\u56e0\u8fdb\u98df\u56f0\u96be\uff0c\u53e3\u8154\u538c\u98df,\u884c\u5c3c\u68ee\u8d32\u95e8\u6210\u5f62\u672f,\u5e76\u7559\u7f6eG\u7ba1\u3002\u773c\u79d1\u68c0\u67e5\u53d1\u73b0\u6c34\u5e73\u773c\u7403\u9707\u98a4\u3002\u5230\u7b2c3\u5e74\uff0c\u4ed6\u7684\u5934\u56f4\u7ef4\u6301\u5728\u660e\u663e\u4f4e\u4e8e5%\u4f4d,\u5e76\u4f34\u6709\u6301\u7eed\u7684\u53d1\u80b2\u969c\u788d\u548c\u53d1\u80b2\u5ef6\u8fdf (\u4ec5\u51e0\u4e2a\u5b57,2\u5c81\u65f6\u884c\u8d70) \u30024.5\u5c81\u65f6\u7684\u795e\u7ecf\u5fc3\u7406\u5b66\u6d4b\u8bd5\u663e\u793a21~29\u4e2a\u6708\u5927\u65f6\u6709\u76f8\u540c\u7684\u53d1\u80b2,\u5305\u62ec\u6d3b\u52a8\u4ea2\u8fdb\u3001\u7761\u7720\u969c\u788d (\u5ef6\u8fdf\u7761\u7720\u5f00\u59cb,\u6bcf\u665a\u7761\u7720\u65f6\u95f4\u7ea63\u5c0f\u65f6) \u3001\u813e\u6c14\u66b4\u8e81\u3001\u5f3a\u8feb\u75c7\u548c\u81ea\u6b8b\u884c\u4e3a\u3002\u4ed6\u7684\u63a5\u53d7\u6027\u8bed\u8a00\u8f7b\u5ea6\u53d7\u635f,\u8868\u8fbe\u6c9f\u901a\u660e\u663e\u53d7\u635f,\u7b2c\u4e00\u6b21\u8bf4\u8bdd\u662f\u57286\u5c81\u65f6\u3002\u5728\u8fc7\u53bb\u76842~3\u5e74\u4e2d,\u51fa\u73b0\u4e86\u4e00\u4e9b\u6539\u5584\u3002\u60a3\u8005\u7684\u751f\u957f\u901f\u5ea6\u8f83\u6162(3.2\u5398\u7c73\/\u5e74\uff0c&lt;1%) ,\u76ee\u524d7\u5c81\u65f6\u7684\u8eab\u9ad8\u4f4e\u4e8e3%,\u4f46\u968f\u7740\u4ed6\u7684\u538c\u98df\u75c7\u6539\u5584,\u4f53\u91cd\u589e\u52a0\u523050%\u3002\u5728\u5bb6\u65cf\u53f2\u4e0a\uff0c\u60a3\u8005\u7684\u7236\u4eb2\u6709\u773c\u7403\u9707\u98a4,\u5e76\u6709\u5b66\u4e60\u56f0\u96be\u7684\u62a5\u544a\u3002X\u7ebf\u80f8\u7247\u3001\u8179\u90e8B\u8d85\u3001\u4e0a\u6d88\u5316\u9053\u3001\u4e59\u72b6\u7ed3\u80a0\u955c\u3001\u8111\u90e8\u6838\u78c1\u5171\u632f\u68c0\u67e5\u5747\u6b63\u5e38\u3002\u636e\u62a5\u9053\uff0c\u6240\u6709\u5b9e\u9a8c\u5ba4\u68c0\u67e5,\u5982\u7535\u89e3\u8d28,\u5168\u8840\u7ec6\u80de\u8ba1\u6570\u548c\u5206\u7ea7,\u809d\u810f\u548c\u7532\u72b6\u817a\u529f\u80fd\u68c0\u67e5,\u514d\u75ab\u7403\u86cb\u767d,\u51fa\u6c57\u6c2f\u5316\u7269,\u8840\u6e05\u6c28\u57fa\u9178\u548c\u5c3f\u6709\u673a\u9178\u90fd\u662f\u6b63\u5e38\u7684\u3002\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790\u663e\u793a\u6b63\u5e38\u768446 XY\u6838\u578b\uff0c\u5206\u8fa8\u7387\u4e3a850\u5e26\u6c34\u5e73\u3002FISH\u68c0\u67e5 (\u8367\u5149\u539f\u4f4d\u6742\u4ea4) \u663e\u793a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5a01\u5ec9\u59c6\u65af\u7efc\u5408\u75c7<\/a>\u3001\u7aef\u7c92FISH\u548c\u5728\u5916\u90e8\u53c2\u8003\u5b9e\u9a8c\u5ba4\u8fdb\u884c\u7684BAC aCGH\u6b63\u5e38\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%98%B5%E5%88%97-CGH%E5%88%86%E6%9E%90\"><\/span><strong>\u9635\u5217-CGH\u5206\u6790<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5728Array-CGH\u4e2d\uff0c\u663e\u793a\u4e0e\u60a3\u80051-4\u7684\u4e27\u5931\u533a\u57df\u5339\u914d\u7684\u6bd4\u7387\u66f2\u7ebf,\u5e76\u4e14\u663e\u793a\u60a3\u80055\u7684\u589e\u76ca\u533a\u57df\u3002\u5982<strong>\u56fe2<\/strong>\u6240\u793a\uff0c\u4e27\u5931\u533a\u57df\u5728\u7ea60.31Mb (\u60a3\u80053) \u81f31.3Mb (\u60a3\u80052) \u7684\u8303\u56f4\u5185\u3002\u60a3\u80055\u7684\u589e\u76ca\u533a\u57df\u4e3a~1.9 Mb\u3002\u5728\u60a3\u80053\u4e2d\u53d1\u73b0\u7684\u7531<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u6240\u754c\u5b9a\u7684\u91cd\u53e0\u7684\u6700\u5c0f\u533a\u57df (SRO) \u8fbe\u5230~311Kb\u5e76\u4e14\u4f4d\u4e8e\u6761\u5e2619p13.13\u5904\u3002\u6839\u636eHuman Genome Build 18,\u8be5SRO\u7684\u8d77\u70b9\u548c\u7ec8\u70b9\u5206\u522b\u4e3a12793474\u548c13104643 (\u6700\u5c0f\u65ad\u70b9) \u30011279366\u548c13120858 (\u6700\u5927\u65ad\u70b9) \u3002\u5bf9\u6240\u6709\u60a3\u8005\u7684\u7236\u6bcd\u8fdb\u884caCGH\u8ffd\u8e2a\u8c03\u67e5(<strong>\u56fe3<\/strong>)\u3002\u5bf9\u4e8e\u6bcf\u4e2a\u4eb2\u672c\u6837\u672c,19p13\u533a\u57df\u7684\u6bd4\u4f8b\u66f2\u7ebf\u5728\u6b63\u5e38\u8303\u56f4\u5185\u3002<\/p>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p><strong><strong>\u56fe2<\/strong>.<\/strong> 4\u4e2a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5fae\u7f3a\u5931<\/a>\u60a3\u8005 (\u60a3\u80051-4) \u548c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5fae\u91cd\u53e0<\/a>\u60a3\u8005 (\u60a3\u80055) \u7684\u9635\u5217\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6df7\u5408 (aCGH) \u8c31\u3002\u60a3\u80051-4\u7684\u9635\u5217\u56fe\u663e\u793a\u4e86\u4ece\u6700\u5c0f0.3Mb (\u60a3\u80053) \u5230\u6700\u59271.3Mb (\u60a3\u80052) \u7684\u8303\u56f4\u5185\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u3002\u60a3\u80055\u7684\u9635\u5217\u56fe\u663e\u793a1.8 -1.9Mb\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u53e0<\/a>\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1000\" height=\"562\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/19p13.13-b.png\" alt=\"\" class=\"wp-image-18568\"\/><\/figure><\/div><\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p><strong><strong>\u56fe3<\/strong>.<\/strong> &nbsp;\u5728\u4ece\u6bcf\u4e2a\u60a3\u8005\u7684\u53cc\u4eb2\u83b7\u5f97\u7684\u9635\u5217\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6df7\u5408 (aCGH) \u8c31 (\u4ee5\u4e2d\u5fc3\u4e3a\u53c2\u8003\u7684\u60a3\u8005\u9635\u5217) \u4e2d,\u6ca1\u6709\u89c2\u5bdf\u5230\u5173\u6ce8\u533a\u57df\u7684\u5931\u8861\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1000\" height=\"373\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/19p13.13-c.png\" alt=\"\" class=\"wp-image-18570\"\/><\/figure><\/div><\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"FISH%E5%88%86%E6%9E%90\"><\/span>FISH\u5206\u6790<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>FISH\u786e\u8ba4\u4e86\u60a3\u80051~4\u7684\u590d\u5236\u6570\u51cf\u5c11,\u8fd9\u8868\u793a\u95f4\u8d28\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u3002\u4e0eaCGH\u7ed3\u679c\u4e00\u81f4\uff0c\u6240\u6709\u75c5\u4f8b\u90fd\u663e\u793aRP11-654K9(<strong>\u56fe4A<\/strong>)\u548cRP11-963I8\u7684\u7f3a\u5931,\u4f46\u53ea\u6709\u60a3\u80052\u663e\u793aRP11-14L14\u7684\u7f3a\u5931\u3002\u590d\u5236\u6b21\u6570\u589e\u52a0\u7684\u60a3\u80055\u663e\u793a\u51fa\u4e0e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u53e0<\/a>\u76f8\u5339\u914d\u7684\u95f4\u671f\u4fe1\u53f7\u6a21\u5f0f\u3002\u5bf9\u4e8e\u63a2\u9488RP11-654K9\u3001RP11-963I8\u3001RP11-14L14\u548cRP11-56 K21, 88%\u300178%\u300180%\u548c65%\u7684\u95f4\u6b47\u7ec6\u80de\u5206\u522b\u663e\u793a3\u4e2a\u6df7\u5408\u4fe1\u53f7(<strong>\u56fe4B<\/strong>)\u3002\u5728\u4e2d\u671f\u67d3\u8272\u4f53\u4e0a\u7684FISH\u4e2d\uff0c\u590d\u5236\u65e0\u6cd5\u53ef\u89c6\u5316\uff0c\u4f46\u4fe1\u53f7\u4ec5\u5b58\u5728\u4e8e19\u53f7\u67d3\u8272\u4f53\u4e0a\uff0c\u5e76\u4e14\u6392\u9664\u4e86\u989d\u5916\u4fe1\u53f7\u63d2\u5165\u57fa\u56e0\u7ec4\u5176\u4ed6\u4f4d\u7f6e\u7684\u53ef\u80fd\u6027\u3002\u4eb2\u672cFISH\u8bd5\u9a8c\u672a\u663e\u793a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u6216<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u7684\u8bc1\u636e\uff0c\u8fdb\u4e00\u6b65\u8bc1\u5b9e\u6240\u6709BAC\u4fe1\u53f7\u5b9a\u4f4d\u4e8e#19\u67d3\u8272\u4f53\uff0c\u5e76\u4e14\u6392\u9664\u4e86\u67d3\u8272\u4f53\u95f4\u63d2\u5165\u7684\u53ef\u80fd\u6027(<strong>\u56fe4C<\/strong>)\u3002\u56e0\u6b64\uff0c\u5148\u53d1\u8005\u7684\u635f\u5931\u548c\u5229\u76ca\u4ee3\u8868\u7740\u4e00\u4e2a\u65b0\u7684\u4e8b\u4ef6\u3002SRO\u4e2d\u5305\u542b\u7684\u57fa\u56e0:\u5728\u60a3\u80053\u4e2d\u53d1\u73b0\u7684\u6d88\u5931\u533a\u57df\u4e2d\u5212\u5206\u7684SRO\u5728\u60a3\u80053\u4e2d\u53d1\u73b0\u7684\u7f3a\u635f\u533a\u57df\u4e2d\u5212\u5206\u7684SRO\u5305\u542b\u4eceRNASEH2A (\u7aef\u7c92) \u5230NACC1 (\u4e2d\u5fc3\u7c92) \u768416\u4e2a\u57fa\u56e0\u7684\u5168\u90e8\u6216\u4e00\u90e8\u5206\uff0c RNASEH2\u7684\u5927\u90e8\u5206RNASEH2,\u6240\u6709RTBDN, MAST1, DNASE2, KLF1, GCDH, syce 2, farsa, calr, rad 23a, gadd45gip1, dand5,nfix, LYL1\u548cTRMT1\u4ee5\u53caNACC1\u7684\u5927\u90e8\u5206\uff08<strong>\u56fe5<\/strong>\uff09(http:\/\/genome.ucsc.edu; UCSC hg18 Mar 2006)\u3002<sup>11,12<\/sup><\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p><strong><strong>\u56fe4<\/strong>.<\/strong> &nbsp;A.\u901a\u8fc7\u5c06BAC\u590d\u5236 (RP11-654K9,\u7ea2,RP11-14L14,\u7eff) \u4e0e\u60a3\u80053\u76f8\u7ed3\u5408\u7684\u5143\u9762\u7ec6\u80de\u8fdb\u884cFISH\u3002\u5c06\u6b63\u5e38\u768419\u53f7\u67d3\u8272\u4f53 (\u5927\u7bad\u5934) \u4e0e\u4e24\u4e2a\u63a2\u9488\u6742\u4ea4\uff0c\u5f97\u5230\u9ec4\u8272\u7684\u878d\u5408\u4fe1\u53f7\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u768419\u53f7\u67d3\u8272\u4f53 (\u5c0f\u7bad\u5934) \u4ec5\u4e0eRP11-14L14\u6df7\u5408,\u65e0\u7ea2\u8272\u4fe1\u53f7\u3002B.\u5728\u60a3\u80055\u7684\u95f4\u671f\u7ec6\u80de\u4e2d\uff0c RP11-56K21\u7684\u63a2\u9488\u4e2d\u67093\u4e2a\u4fe1\u53f7\u3002\u4f7f\u7528C.RP11-963I8 (\u7eff) \u548cD19S238E (\u7ea2) \u63a2\u9488\u8868\u73b0\u51fa\u6b63\u5e38\u4fe1\u53f7\u6a21\u5f0f\u7684\u4eb2\u672c\u6837\u54c1\u7684\u5143\u9762\u7ec6\u80de\u3002\u67d3\u8272\u4f53\u4e4b\u95f4\u6ca1\u6709\u91cd\u65b0\u6392\u5217\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"301\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/19p13.13-d-1024x301.jpg\" alt=\"\" class=\"wp-image-18572\"\/><\/figure>\n<\/div><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%80%83%E5%AF%9F\"><\/span>\u8003\u5bdf<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>aCGH\u9274\u5b9a\u4e864\u540d\u5177\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5fae\u7f3a\u5931<\/a>\u548c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5fae\u91cd\u53e0<\/a>\u7684\u60a3\u8005\uff0c\u5305\u62ec19p13.12\u81f319p13.2\u3002 SRO\u7531\u572819p13.13\u5185\u5177\u6709\u7ea6311Kb (\u6700\u5927340Kb) \u7684\u6700<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u7684\u60a3\u80053\u5212\u5206\u3002\u6700\u5c0f\u7684SRO\u8303\u56f4\u4ece\u7ea612793474bp\u523013104643bp (Build18) \u3002\u5230\u76ee\u524d\u4e3a\u6b62\uff0c\u5173\u4e8e\u5177\u6709\u5305\u62ec\u8be5SRO\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u7684\u60a3\u8005 (\u7531Auvin\u7b49\u4eba<sup>9<\/sup>\u62a5\u544a\u7684\u60a3\u8005) \u6240\u53d1\u8868\u7684\u75c5\u4f8b\u62a5\u544a\u53ea\u67092\u4f8b\u3002 1\u4f8b\u7531Lysy\u7b49<sup>8<\/sup>\u62a5\u9053\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u7ea6740 Kb\u3002 \u4f34\u968f\u7740\u66f4\u5927\u76843Mb\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u3002\u672c\u7814\u7a76\u548cAuvin\u7b49\u4eba\u7814\u7a76\u7684\u60a3\u8005\u663e\u793a\u4e00\u81f4\u7684\u8868\u578b\u76f8\u5173\u6027\uff0c\u4ee5\u652f\u6301\u5c06\u8be519p13.13\u7684\u4e34\u5e8a-\u7ec6\u80de\u57fa\u56e0\u7ec4\u5b9e\u4f53\u6307\u5b9a\u4e3a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u7efc\u5408\u75c7<\/a>\u3002Lysy\u7b49\u7684\u60a3\u8005<sup>8<\/sup> \u7136\u800c,\u8be5\u7f3a\u5931\u5728\u672c\u62a5\u544a\u7684\u7aef\u7c92\u4e2d\u4ea7\u751f\u4e86\u8fd13Mb\u7684\u7aef\u7c92,\u5176\u5927\u5c0f\u4e3a\u6700\u5927<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u7684\u8fd13\u500d,\u4e34\u754c\u533a\u57df\u7684\u8fd110\u500d,\u56e0\u6b64\u8ba4\u4e3a\u8868\u578b\u5b58\u5728\u660e\u663e\u5dee\u5f02\u3002<\/p>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p><strong><strong>\u56fe5<\/strong>.<\/strong> \u8868\u793a\u60a3\u80051-5\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u533a\u57df (\u7ea2) \u548c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u533a\u57df (\u7eff) \u7684\u4f4d\u7f6e\u7684\u56fe\u3002\u5b9e\u7ebf\u548c\u865a\u7ebf\u5206\u522b\u8868\u793aSRO\u7684\u6700\u5c0f\u548c\u6700\u5927\u65ad\u70b9\u3002\u8fd8\u663e\u793a\u4e86\u7528\u4e8e\u786e\u8ba4\u5931\u8861\u533a\u57df\u7684BAC\u63a2\u9488(*1<em>\u2013<\/em>*4)&nbsp;,\u5176\u6620\u5c04\u7684\u57fa\u56e0\u4ee5\u53caSRO\u4e2d\u5305\u542b\u7684\u57fa\u56e0\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"667\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/19p13.13-e-1024x667.png\" alt=\"\" class=\"wp-image-18574\"\/><\/figure><\/div><\/div><\/div>\n\n\n\n<p>19p13.13<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u60a3\u8005\u7684\u4e34\u5e8a\u8868\u73b0\u57283\u7ec4\u53cd\u590d\u5f02\u5e38\u4e2d\u662f\u503c\u5f97\u5173\u6ce8\u7684\u3002\u7b2c\u4e00\uff0c\u8fc7\u5ea6\u751f\u957f\u3002\u60a3\u80051~4\u53caAuvin\u7b49\u7684\u60a3\u8005<sup>9<\/sup> \u8fd9\u4e9b\u60a3\u8005\u90fd\u662f\u4e0e\u5e74\u9f84\u76f8\u5bf9\u5e94\u7684\u5de8\u5934\u75c7,\u8eab\u9ad8\u548c\u4f53\u91cd\u4e0e\u9885\u9762\u7684\u5927\u5c0f\u4e00\u81f4\u3002\u5bf9\u4e8e\u60a3\u80052\u548c3\u4ee5\u53caAuvin\u7b49\u7684\u60a3\u8005<sup>9<\/sup>\u5c24\u5176\u611f\u5174\u8da3\u3002\u8fdb\u884cNSD1\u6d4b\u8bd5\u4ee5\u6392\u9664<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">Sotos\u7efc\u5408\u75c7<\/a>\u3002\u56e0\u6b64\uff0c\u8be519p13.13\u533a\u57df\u53ef\u80fd\u4e0e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">Sotos\u7efc\u5408\u75c7<\/a>\u7684\u5176\u4ed6\u60a3\u8005\u76f8\u5173,\u8be5\u60a3\u8005\u6b63\u5728\u8fdb\u884c\u9274\u522b\u8bca\u65ad,\u4f46NSD1\u6d4b\u8bd5\u7ed3\u679c\u4e3a\u9634\u6027\u3002\u7b2c\u4e8c\u4e2a\u6700\u5e38\u89c1\u7684\u4e34\u5e8a\u75c7\u72b6\u662f\u773c\u90e8\u5f02\u5e38 (\u7279\u522b\u662f\u659c\u89c6) \u548c\u89c6\u795e\u7ecf\u840e\u7f29\u6216\u53d1\u80b2\u4e0d\u826f,\u540e\u8005\u662f\u901a\u8fc7\u6b63\u5f0f\u773c\u79d1\u68c0\u67e5\u6216\u6838\u78c1\u5171\u632f\u6210\u50cf\u68c0\u6d4b\u5230\u7684\u3002\u7b2c3\u79cd\u8868\u73b0\u4e3a\u80c3\u80a0\u9053\u75c7\u72b6,\u5c24\u5176\u662f\u8179\u75db\u548c\u5455\u5410\u3002\u8be5\u4e09\u8054\u5f81\u7684\u552f\u4e00\u53d1\u73b0\u5bf9\u4e8e19p13.13\u7684\u5f02\u5e38\u5e76\u65e0\u7279\u5f02\u6027,\u4f46\u662f\u8fd9\u4e00\u7cfb\u5217\u7684\u53d1\u73b0\u5728\u76ee\u524d\u5173\u4e8e\u5176\u4ed6<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d<\/a>\u7684\u8bb8\u591a\u62a5\u9053\u5f53\u4e2d\u6ca1\u6709\u62a5\u9053\u3002\u7136\u800c\uff0c\u8be519p13.13\u60a3\u8005\u4e5f\u8868\u73b0\u51fa\u4e00\u4e9b\u975e\u7279\u5f02\u6027\u89c2\u5bdf\u7ed3\u679c\u3002\u5b58\u5728\u51e0\u79cd\u795e\u7ecf\u7cfb\u7edf\u5f02\u5e38(\u4f8b\u5982\uff0c\u766b\u75eb\u53d1\u4f5c,\u808c\u9635\u631b\u6027\u766b\u75eb\u53d1\u4f5c,\u808c\u5f20\u529b\u964d\u4f4e) ,\u5e76\u4e14\u6240\u6709\u4eba\u90fd\u5b58\u5728\u53d1\u80b2\u5ef6\u8fdf\u6216\u667a\u529b\u8fdf\u949d\u3002\u4e3a\u4e86\u6bd4\u8f83\uff0c\u5728<strong>\u88681<\/strong>\u4e2d\u5305\u62ec\u572819p13.12 -19p13.2\u4e2d\u5177\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5fae\u7f3a\u5931<\/a>\u6216<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5fae\u91cd\u53e0<\/a>\u7684\u5c11\u6570\u5176\u4ed6\u5df2\u53d1\u8868\u60a3\u8005 (\u53e6\u89c1\u53c2\u8003\u6587\u732e) \u3002 6\u30017\u300110\u3002 \u8fd9\u4e9b\u90fd\u4e0e\u7531\u60a3\u80053\u5212\u5206\u7684\u4e34\u754c\u533a\u57df\u4e0d<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\uff0c\u5176\u8868\u578b\u5b58\u5728\u4e00\u4e9b\u663e\u7740\u5dee\u5f02\u3002\u4e0e\u6211\u4eec\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u60a3\u8005\u548cAuvin\u7b49\u4eba\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u60a3\u8005<sup>9<\/sup>\u76f8\u6bd4\uff0c\u8fd9\u4e9b\u4e0d<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u60a3\u8005<sup>7, 10<\/sup>\u968f\u5e74\u9f84\u800c\u53d8\u5c0f\uff0c\u4ece\u800c\u652f\u6301\u4e86\u4ee5\u4e0b\u7ed3\u8bba,\u5373\u6211\u4eec\u5b9a\u4e49\u7684310Kb\u7684SRO\u5185\u7684\u57fa\u56e0\u662f\u5bfc\u81f4\u8eab\u4f53\u5927\u7684\u539f\u56e0\u3002\u5728\u6211\u4eec\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u60a3\u8005\u4e2d\u6ca1\u6709\u542c\u529b\u635f\u5931\uff0c\u4f46\u662f\u8fd9\u4e9b\u4e0d<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u768419p<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u5177\u6709\u4e25\u91cd\u7684\u542c\u529b\u635f\u5931\uff0c\u8fd9\u8868\u660e\u8fd9\u4e9b\u8fd1\u7aef\u548c\u8fdc\u7aef\u533a\u57df\u4e2d\u7684\u57fa\u56e0\u89e3\u91ca\u4e86\u8fd9\u4e9b\u8868\u578b\u7684\u8fd9\u4e00\u65b9\u9762\u3002\u7136\u800c\uff0c\u5b58\u5728\u4e00\u4e9b\u76f8\u4f3c\u4e4b\u5904(\u4f8b\u5982\uff0c\u659c\u89c6<sup>6, 10<\/sup>\u548c\u89c6\u76d8\u676f\u76d6<sup>10<\/sup>)\u3002<\/p>\n\n\n\n<p>\u4ec5\u53d1\u73b01\u4f8b\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\uff0c\u4e34\u5e8a\u75c7\u72b6\u7684\u666e\u904d\u5316\u8f83\u4e3a\u8c28\u614e\u3002\u663e\u7136,\u5728\u76ee\u524d\u5df2\u5efa\u7acb\u7684\u76f8\u4e92<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u7efc\u5408\u75c7<\/a>\u4e2d,\u5305\u62ec17p11.2\u548c22q11.2,\u4e0e\u6bcf\u4e2a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u76f8\u5173\u7684\u4e00\u7cfb\u5217\u8868\u578b\u53d1\u73b0\u4e0e\u76f8\u5e94<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u76f8\u5173\u7684\u90a3\u4e9b\u5b8c\u5168\u4e0d\u540c,\u5e76\u8bc1\u660e\u5c06\u5176\u6307\u5b9a\u4e3a\u5355\u72ec\u7684\u7efc\u5408\u75c7 (\u4f8b\u5982,\u9488\u5bf9<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">17p11.2\u7f3a\u5931<\/a>\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">Smith-Magenis\u7efc\u5408\u75c7<\/a>,\u9488\u5bf9<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">17p11.2\u91cd\u53e0<\/a>\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">Potocki-Lupski\u7efc\u5408\u75c7<\/a>)\u3002<\/p>\n\n\n\n<p>\u6b64\u5916\uff0c\u6b63\u5982\u5728\u6d89\u53caWiliams-Beuren\u57fa\u56e0\u5ea7\u7684\u5931\u8861\u4e2d\u6240\u89c2\u5bdf\u5230\u7684,\u5177\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u7684\u60a3\u8005\u53ef\u80fd\u4e0e\u5728<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u60a3\u8005\u4e2d\u89c2\u5bdf\u5230\u7684\u7ed3\u679c\u76f8\u53cd\u3002<sup>13, 14<\/sup> \u5728\u8be5\u7cfb\u5217\u4e2d\uff0c\u8fd9\u540c\u6837\u901a\u8fc7\u5728\u60a3\u6709\u5927\u5934\u75c7\u768419p13.13\u7f3a\u5931\u60a3\u8005\u548c\u60a3\u6709\u5c0f\u5934\u75c7\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u60a3\u8005\u4e4b\u95f4\u5934\u56f4\u7684\u660e\u663e\u5dee\u5f02\u6765\u8bc1\u660e\u3002\u8fd9\u79cd\u60c5\u51b5\u4e5f\u9002\u7528\u4e8eStratton\u7b49<sup>6<\/sup>\u62a5\u544a\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u60a3\u8005\u3002 \u7136\u800c\uff0c\u76f8\u540c\u533a\u57df\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u548c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u4e5f\u53ef\u80fd\u5177\u6709\u4e00\u4e9b\u5171\u540c\u7279\u5f81\uff0c\u5982<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">22q11.2\u7684\u7f3a\u5931<\/a>\u548c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u4e2d\u5b58\u5728\u816d\u54bd\u529f\u80fd\u969c\u788d\u6240\u793a,\u76f8\u540c\u533a\u57df\u7684\u7f3a\u5931\u548c\u91cd\u53e0\u4e5f\u53ef\u80fd\u5177\u6709\u4e00\u4e9b\u5171\u540c\u7279\u5f81\u3002\u540c\u6837\uff0c\u572819p\u7684\u60c5\u51b5\u4e0b\uff0c\u89c2\u5bdf\u5230\u4e00\u4e9b\u4e34\u5e8a\u53d1\u73b0(\u773c\u90e8\u8868\u73b0\u3001\u6d88\u5316\u9053\u75c7\u72b6\u3001\u75c9\u631b\u7b49)\uff0c\u65e0\u8bba<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u6216<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u3002<sup>15-17<\/sup><\/p>\n\n\n\n<p>\u6620\u5c04\u5230SRO\u768416\u4e2a\u57fa\u56e0\u6d89\u53ca\u8f6c\u5f55, DNA\u4fee\u590d,\u9020\u8840\u7b49\u591a\u79cd\u8fc7\u7a0b\u3002DNASE2<sup>8<\/sup>\u548cKLF1<sup>19, 20<\/sup>\u53c2\u4e0e\u80ce\u513f\u9020\u8840\u3002\u7531\u4e8e\u5b58\u57281\u4e2a\u529f\u80fd\u6027KLF1\u7b49\u4f4d\u57fa\u56e0\u8db3\u4ee5\u4ea7\u751f\u4eba\u7c7b\u7ea2\u8840\u7403,\u56e0\u6b64\u8fd95\u540d\u60a3\u8005\u6ca1\u6709\u660e\u663e\u7684\u8840\u6db2\u5b66\u5f02\u5e38\u4e5f\u5c31\u4e0d\u8db3\u4e3a\u5947\u4e86\u3002\u8be5\u533a\u57df\u4e2d\u7684\u5176\u4ed6\u57fa\u56e0\u53c2\u4e0e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20\u75be\u75c5<\/a>:GCDH\u548c\u620a\u4e8c\u9178\u8840\u75c7\/\u9178\u5c3f (GA-1)<sup>21-24<\/sup> \u548cRNASEH2A\u548cAicardi-Goutieres\u7efc\u5408\u75c7\u3002\u9664\u975e\u4f34\u968f\u6709\u672a\u7f3a\u5931\u540c\u6e90\u4f53\u7684\u7a81\u53d8,\u5426\u5219\u8fd9\u4e9b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u57fa\u56e0\u7684\u7f3a\u5931<\/a>\u53ef\u80fd\u4e0e\u4e34\u5e8a\u75c7\u72b6\u65e0\u5173\u3002SRO\u7684\u4e00\u4e9b\u57fa\u56e0\u5728\u8111\u548c\u795e\u7ecf\u7ec4\u7ec7\u4e2d\u88ab\u8868\u8fbe,\u662f\u4e34\u5e8a\u75c7\u72b6\u8868\u8fbe\u7684\u5019\u8865\u57fa\u56e0\u3002MAST1\u662f\u5fae\u7ba1\u7ed3\u5408\u4e1d\u6c28\u9178\/\u82cf\u6c28\u9178\u6fc0\u91761,\u662f\u8fd9\u6837\u7684\u5019\u9009\u8005\u3002 \u5fae\u7ba1\u76f8\u5173\u4e1d\u6c28\u9178\/\u82cf\u6c28\u9178\u6fc0\u9176\u5bb6\u65cf\u7684\u6210\u5458\u5728\u5927\u8111\u4e2d\u88ab\u9ad8\u5ea6\u8868\u8fbe\u3002\u7279\u522b\u6709\u8da3\u7684\u662f\uff0cMAST1\u4e0ePTEN\u76f8\u4e92\u4f5c\u7528\u5e76\u5e2e\u52a9\u7a33\u5b9aPTEN\u3002PTEN\u7a81\u53d8\u4e0e\u5927\u5934\u7578\u5f62\u548c\u81ea\u95ed\u75c7\u6709\u5173\u3002NFIX\u662fNF1\u8f6c\u5f55\u56e0\u5b50\u5bb6\u65cf\u7684\u6210\u5458\uff0c\u662f\u53e6\u4e00\u4e2a\u5019\u8865\u57fa\u56e0\u3002<sup>26-28<\/sup> \u5c0f\u9f20\u6837\u672c\u663e\u793aNfix\u5bf9\u4e8e\u6b63\u5e38\u8111\u53d1\u80b2\u662f\u5fc5\u9700\u7684,\u4e00\u9879\u5b9e\u9a8c\u663e\u793a\u5355\u4fa7\u8fde\u63a5\u4f1a\u5bfc\u81f4\u8111\u5c0f\u6881\u7684\u7f3a\u5931,<sup>30<\/sup> \u8be5\u53d1\u73b0\u4e0e\u60a3\u80053\u4e2d\u53d1\u73b0\u7684\u7c7b\u4f3c\u3002\u5982\u4e0a\u6240\u8ff0\uff0c\u80c3\u80a0\u9053\u7684\u95ee\u9898\u5728\u60a3\u8005\u4e2d\u662f\u663e\u7740\u7684\u3002\u5bf9\u8fd9\u4e9b\u53d1\u73b0\u611f\u5174\u8da3\u7684\u57fa\u56e0\u662fCALR\u3002CALR\u7f16\u7801\u9499\u7f51\u86cb\u767d\uff0c\u8be5\u86cb\u767d\u5728\u5185\u8d28\u7f51\u4e2d\u4e0e\u9499\u7ed3\u5408\u548c\u50a8\u5b58\uff0c\u5e76\u5728\u6838\u4e2d\u8d77\u4f5c\u7528\uff0c\u901a\u8fc7\u6838\u6fc0\u7d20\u53d7\u4f53\u8c03\u8282\u57fa\u56e0\u8f6c\u5f55\u3002\u6709\u8da3\u7684\u662f\uff0c\u5176\u4e5f\u5b9a\u4f4d\u4e8e\u4eba\u5c0f\u80a0\u7684\u795e\u7ecf\u7ec6\u80de\u4e2d,\u56e0\u6b64\u53ef\u80fd\u6d89\u53ca\u5728\u6211\u4eec\u76845\u4e2a\u60a3\u8005\u5f53\u4e2d\u76844\u4e2a\u6240\u53d1\u73b0\u7684\u6d88\u5316\u7cfb\u7edf\u75c7\u72b6\u3002\u5728\u5148\u524d\u6240\u53d1\u8868\u7684\u5173\u4e8e\u5305\u62ecAuvin\u7b49\u4eba<sup>9<\/sup>\u768419p13<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u7684\u62a5\u544a\u4e2d,\u5047\u5b9aCACNA1A\u548cCC2D1A\u5728\u6240\u5f97\u8868\u578b\u4e2d\u8d77\u91cd\u8981\u4f5c\u7528\u3002\u7531\u4e8e<sup>9, 31<\/sup> CACNA1A\u548cCC2D1A\u5747\u672a\u5305\u62ec\u5728\u91cd\u8981\u7684310\u81f3340Kb\u533a\u57df\u4e2d,\u56e0\u6b64\u8fd9\u4e9b\u90fd\u4e0d\u88ab\u8ba4\u4e3a\u662f\u4e0e\u60a3\u8005\u4e2d\u768419p13.13<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931\/\u91cd\u590d<\/a>\u76f8\u5173\u7684\u7279\u5b9a\u8868\u578b\u6784\u8c61\u7684\u5019\u9009\u8005\u3002<\/p>\n\n\n\n<p>\u4e3a\u4e86\u8fdb\u4e00\u6b65\u7814\u7a76\u6f5c\u5728\u5019\u8865\u57fa\u56e0MAST1\u548cCALR,\u5df2\u7ecf\u63d0\u51fa\u4e86\u5c0f\u9f20\u6837\u54c1\u548c\u7a81\u53d8\u7b5b\u9009\u3002\u5982\u4e0a\u6240\u8ff0\uff0c\u4e0e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u548c\u91cd\u53e0\u6709\u5173\u7684\u8d77\u59cb\u70b9\u548c\u622a\u6b62\u70b9\u5bf9\u4e8e\u6bcf\u4e2a\u60a3\u8005\u6765\u8bf4\u662f\u552f\u4e00\u7684\u3002\u8fd9\u4e00\u4e8b\u5b9e\u4e0e\u975e\u7b49\u4f4d\u57fa\u56e0\u540c\u6e90\u91cd\u7ec4\u76f8\u53cd\uff0c\u56e0\u4e3a\u5728<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931\/\u91cd\u590d<\/a>\u533a\u4e2d\u4e0d\u5b58\u5728\u4f4e\u590d\u5236\u91cd\u590d\u6216\u8282\u6bb5\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>,\u6216\u8005\u4e0e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931\/\u91cd\u590d<\/a>\u533a\u76f8\u90bb,\u5bfc\u81f419p13\u6570\u76ee\u590d\u5236\u53d8\u4f53\u3002\u6700\u8fd1\u5df2\u7ecf\u8868\u660e\uff0c\u53c2\u4e0e\u94fe\u65ad\u88c2\u4fee\u590d\u4e2d\u7684\u65ad\u70b9\u63a5\u5934\u4e0a\u7684\u5fae\u540c\u6e90\u6027\u53c2\u4e0e\u4e86\u5177\u6709\u975e\u91cd\u590d\u65ad\u70b9\u7684\u590d\u5236\u53d8\u4f53\u7684\u5f62\u6210\u3002<sup>32, 33<\/sup> \u7136\u800c\uff0c\u4e3a\u4e86\u8fdb\u4e00\u6b65\u7814\u7a76\u8fd9\u79cd\u53ef\u80fd\u6027\u5e76\u8fdb\u4e00\u6b65\u63cf\u8ff0\u57fa\u7840\u5206\u5b50\u673a\u5236,\u9700\u8981\u5bf9\u65ad\u70b9\u8fdb\u884c\u8be6\u7ec6\u6d4b\u5e8f\u3002\u5e94\u7528\u57fa\u56e0\u7ec4\u7814\u7a76\u4e2d\u5fc3 (TCAG) (http:\/\/projects.tcag.ca\/variation\/)<sup>34<\/sup> \u7684\u57fa\u56e0\u7ec4\u53d8\u4f53\u6570\u636e\u5e93 (DGV) \u5df2\u7ecf\u5728\u7ec6\u80de\u9057\u4f20\u5b66\u5bb6\u548c\u5bf9\u7167\u7ec4\u4e2d\u5145\u5206\u62a5\u9053\uff0c\u5e76\u5bf9\u5904\u7406\u6709\u52a9\u4e8e\u9274\u5b9a\u53ef\u80fd\u662f\u826f\u6027\u53d8\u4f53\u7684\u590d\u5236\u53d8\u4f53\u7684\u9635\u5217\u7684\u5176\u4ed6\u7814\u7a76\u4eba\u5458\u975e\u5e38\u6709\u4ef7\u503c\u3002\u9700\u8981\u6ce8\u610f\u7684\u662f,\u5728DGV\u4e2d,\u8be5\u533a\u57df\u7684\u4e00\u90e8\u5206 (\u4ece\u8d77\u59cb\u70b9\u523012919491) \u7531Wong\u7b49\u4eba<sup>35<\/sup>\u8bc6\u522b\u3002\u57fa\u4e8eBAC\u9635\u5217\uff0c 95\u4eba\u4e2d\u67093\u4eba\u5df2\u88ab\u5220\u9664\u3002\u5177\u4f53\u800c\u8a00,\u5728\u6587\u732e\u4e2d\u53d1\u8868\u5e76\u5728DGV (\u4ee3\u8868\u8d85\u8fc74000\u4e2a\u5bf9\u7167\u4e2a\u4f53) \u4e2d\u5f15\u7528\u7684\u5927\u578b\u5bf9\u7167\u961f\u521736-40\u4e2d,\u6ca1\u6709\u4e00\u4e2a\u8bc6\u522b\u51fa\u8be5\u533a\u57df\u7684\u5927\u90e8\u5206<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u6216<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u3002\u6b64\u5916\uff0c\u7531\u4e8e\u5728\u6211\u4eec\u7684\u75c5\u4f8b\u4e2d<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u548c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u5df2\u88ab\u8bc1\u660e\u5168\u65b0,\u56e0\u6b642007\u5e74\u5728DGV\u4e2d\u7684\u5355\u4e00\u767b\u8bb0\u5e76\u6ca1\u6709\u8d85\u8fc7\u652f\u6301\u590d\u5236\u6570\u91cf\u53d8\u4f53\u5728\u4e34\u5e8a\u4e0a\u91cd\u8981\u7684\u6570\u636e\u3002\u9a8c\u8bc12007\u5e74BAC\u9635\u5217\u62a5\u544a\u7684\u62f7\u8d1d\u6570\u53d8\u4f53\u7684\u65ad\u70b9\u4e5f\u53ef\u80fd\u63d0\u4f9b\u66f4\u591a\u89c1\u89e3\u3002<\/p>\n\n\n\n<p>\u603b\u800c\u8a00\u4e4b,\u4e34\u5e8a\u9057\u4f20\u5b66\u5bb6\u548c\u7ec6\u80de\u9057\u4f20\u5b66\u5bb6\u7684\u5bc6\u5207\u5408\u4f5c,\u4ee5\u53ca\u57fa\u56e0\u578b\u548c\u8868\u578b\u6570\u636e\u7684\u76f8\u5173\u6027,\u4fc3\u8fdb\u4e8619p13.13<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u7efc\u5408\u75c7<\/a>\u7684\u9274\u5b9a\u3002\u7531\u6b64\uff0c\u9664\u4e86\u5bf9\u6240\u786e\u5b9a\u7684\u60a3\u8005\u8fdb\u884c\u7cbe\u786e\u7684\u8bca\u65ad\u6027\u68c0\u67e5 (\u4f8b\u5982,\u5305\u62ec\u7528\u4e8e\u68c0\u6d4b\u659c\u89c6\u7684\u5b8c\u6574\u7684\u773c\u79d1\u68c0\u67e5\u548c\u89c6\u795e\u7ecf\u6838\u78c1\u5171\u632f\u56fe\u50cf\u7684\u5168\u9762\u8bc4\u4f30,\u7528\u4e8e\u68c0\u6d4b\u8111\u7ed3\u6784\u5f02\u5e38\u7684\u6838\u78c1\u5171\u632f\u56fe\u50cf,\u6795\u9aa8\u524d\u989d\u5468\u56f4\u7684\u8fde\u7eed\u76d1\u6d4b,\u9610\u660e\u5305\u62ec\u8fdb\u98df\u4e0d\u826f\u3001\u8179\u75db\u3001\u5455\u5410\u5728\u5185\u7684\u6d88\u5316\u9053\u75c7\u72b6\u7684\u75c5\u53f2) \u4e4b\u5916,\u8fd8\u786e\u5b9a\u4e86\u7814\u7a76\u7684\u76ee\u6807\u57fa\u56e0,\u4ee5\u9610\u660e\u8be5\u7efc\u5408\u75c7\u7684\u8fdb\u4e00\u6b65\u529f\u80fd\u548c\u4e34\u5e8a\u7279\u5f81\u4e4b\u95f4\u7684\u5173\u7cfb\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%84%9F%E8%B0%A2\"><\/span><strong>\u611f\u8c22<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u4f5c\u8005\u611f\u8c22\u60a3\u8005\u53ca\u5176\u5bb6\u5c5e\u79ef\u6781\u53c2\u4e0e\u672c\u7814\u7a76\u3002\u611f\u8c22Heather Zierhut, MS, Genetic Counselor\u5bf9\u8be5\u9879\u76ee\u7684\u652f\u6301\uff0c\u5e76\u611f\u8c22\u660e\u5c3c\u82cf\u8fbe\u5927\u5b66\u533b\u5b66\u4e2d\u5fc3\uff0c Fairview\u7684Cytogenetics\u5b9e\u9a8c\u5ba4\u7684\u6280\u672f\u4eba\u5458\u8fdb\u884cArray-CGH\u6d4b\u5b9a\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\"><\/span>\u53c2\u8003\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Mefford HC, Sharp AJ, Baker C, et al.\u67d3\u8272\u4f531q21.1\u548c\u5404\u79cd\u513f\u7ae5\u8868\u578b\u7684\u590d\u53d1\u91cd\u5efa\u3002N Engl J Med 2008;359:1685 -1699\u3002<\/li>\n\n\n\n<li>Brunetti-PierriN, Berg JS, Scaglia F, et al\u3002\u4e0e\u5c0f\u5934\u6216\u5927\u5934\u7578\u5f62\uff0c\u53d1\u80b2\u548c\u884c\u4e3a\u5f02\u5e38\u76f8\u5173\u7684\u91cd\u590d1q21.1\u7f3a\u5931\u548c\u91cd\u590d\u3002Nat Genet 2008;40:1466 -1471\u3002<\/li>\n\n\n\n<li>Weiss LA, Shen Y, Korn JM, et al;Autism Consortium.16p11.2\u4e2d\u7684\u5fae\u7f3a\u5931\u4e0e\u5fae\u91cd\u590d\u548c\u81ea\u95ed\u75c7\u7684\u5173\u8054N Engl J Med 2008;358:667 -675.<\/li>\n\n\n\n<li>Marshall CR, Noor A, Vincent JB, et al\u3002\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u7684\u67d3\u8272\u4f53\u7ed3\u6784\u7a81\u53d8\u3002Am J Hum Genet 2008;82:477\u2013488.<\/li>\n\n\n\n<li>Hurgoiu V, Suciu S.19 p-\u7684\u51fa\u73b0\u3002Ann 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