{"id":47109,"date":"2021-10-26T16:46:42","date_gmt":"2021-10-26T07:46:42","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3q23-2\/"},"modified":"2025-08-11T14:47:32","modified_gmt":"2025-08-11T05:47:32","slug":"10q22-3q23-2","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3q23-2\/?lang=zh-hans","title":{"rendered":"\u88ab\u5b9a\u4e49\u4e3a\u4f4e\u590d\u5236\u91cd\u590d\uff08\u957f\u5ea6\u22651kb\u7684\u5e8f\u5217\u5757\uff0c\u226590%\u7684\u5e8f\u5217\u4e00\u81f4\u6027\uff09\u7684\u8282\u6bb5\u6027\u91cd\u590d\uff0c\u4e0e3\/4\u76f8\u90bb\u7684\u7f55\u89c110q22.3q23.2\u5fae\u7f3a\u5931\u7684\u65b0\u75c5\u4f8b"},"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>Miriam Coelho Molck Milena Simioni T\u00e1rsis Paiva Vieira<br>Fab\u00edola Paoli Monteiro Vera L. Gil-da-Silva-Lopes<\/p>\n\n\n\n<p>\u574e\u76ae\u7eb3\u65af\u5927\u5b66\u533b\u5b66\u90e8\u57fa\u56e0\u5b66\u79d1(UNICAMP)\u3001\u5df4\u897f\u3001\u574e\u76ae\u7eb3\u65af<\/p>\n\n\n\n<h4 class=\"wp-block-heading\">\u786e\u5207\u7684\u4e8b\u5b9e<\/h4>\n\n\n\n<p>\u4ee5\u524d\u62a5\u544a\u8fc7\u768410q22.3q23.2\u7684\u5fae<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\uff0c\u7f3a\u5931\u4e0e\u6700\u8fd1\u62a5\u9053\u7684\u7f55\u89c1\u768410q22q23<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931\u7efc\u5408\u75c7<\/a>\u6709\u5173\u8054\uff0c\u8868\u73b0\u51fa\u4e00\u79cd\u975e\u7279\u5f81\u6027\u7684\u8868\u578b\u3002<\/p>\n\n\n\n<p>\u8fc4\u4eca\u4e3a\u6b62\uff0c\u6587\u732e\u4e2d\u5df2\u62a5\u9053\u4e8614\u4f8b10q22.3q23.2\u76f8\u90bb\u7684\u4f4e\u590d\u5236\u91cd\u590d3\/4\u7684\u5fae<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\">\u65b0\u7684\u6d1e\u5bdf<\/h4>\n\n\n\n<p>\u62a5\u9053\u4e86\u4e00\u4f8b\u572810q22.3q23.2\u5904\u67097.8Mb\u7684\u5fae\u5c0f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u7684\u7537\u5b69\u7684\u65b0\u75c5\u4f8b\uff0c\u5e76\u5c06\u5176\u4e34\u5e8a\u75c7\u72b6\u4e0e\u6587\u732e\u4e2d\u62a5\u9053\u7684\u7c7b\u4f3c\u75c5\u4f8b\u8fdb\u884c\u4e86\u6bd4\u8f83\u3002<\/p>\n\n\n\n<p>\u6b64\u5916\uff0c\u4f5c\u8005\u7684\u60a3\u8005\uff0c\u53ef\u80fd\u6709\u4e0e\u8868\u578b\u6709\u5173189 kb\u768416q12.1\u7684\u5fae<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\">\u5173\u952e\u8bcd<\/h4>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931\u7efc\u5408\u75c7<\/a>10q22q23 \u30fb \u57fa\u56e0\u578b-\u8868\u73b0\u578b\u76f8\u5173 \u30fb \u5206\u5b50\u7ec6\u80de\u9057\u4f20\u5b66<\/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<h4 class=\"wp-block-heading\">\u8981\u7ea6<\/h4>\n\n\n\n<p class=\"has-text-align-left\">10q22.3q23.2\u533a\u57df\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u662f\u7f55\u89c1\u7684\uff0c\u75312\u4e2a\u4f4e\u590d\u5236\u91cd\u590d(LCR3\u4ee5\u53ca4)\u4f5c\u4e3a\u5a92\u4ecb\u3002 \u8fd9\u4e9b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u5df2\u7ecf\u88ab\u786e\u8ba4\u4e3a10q22q23<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931\u7efc\u5408\u75c7<\/a>\u3002 \u4e0e\u8fd9\u79cd\u60c5\u51b5\u76f8\u5173\u7684\u8868\u578b\u662f\u76f8\u5f53\u4e0d\u5178\u578b\u7684\uff0c\u6700\u5e38\u89c1\u7684\u7279\u5f81\u662f\u9885\u9762\u7578\u5f62\u548c\u53d1\u80b2\u8fdf\u7f13\u3002\u62a5\u544a\u4e86\u4e00\u4e2a\u9885\u9762\u7578\u5f62\u7279\u5f81\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u6cd5\u6d1b\u6c0f\u56db\u8054\u75c7\u3001\u80a2\u4f53\u7578\u5f62\u548c\u53cd\u590d\u547c\u5438\u9053\u611f\u67d3\u7684\u7537\u5b69\u3002 \u67d3\u8272\u4f53\u82af\u7247\u5206\u6790\u663e\u793a\u572810q22.3q23.2\u67097.8Mb\u7684\u5fae<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\uff0c\u76f8\u90bbLCRs 3\/4\uff0c\u8fd8\u6709\u4e00\u4e2a189 kb\u768416q12.1\u7684\u5fae\u5c0f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u3002\u5728\u672c\u6587\u4e2d\uff0c\u6211\u4eec\u56de\u987e\u4e00\u4e0b\u6709\u7c7b\u4f3c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u62a5\u544a\u75c5\u4f8b\u7684\u4e34\u5e8a\u75c7\u72b6\uff0c\u5e76\u4e0e\u6211\u4eec\u7684\u60a3\u8005\u8fdb\u884c\u6bd4\u8f83\uff0c\u6709\u52a9\u4e8e\u66f4\u597d\u5730\u7406\u89e3\u57fa\u56e0\u578b\u4e0e\u8868\u73b0\u578b\u7684\u76f8\u5173\u6027\u3002<\/p>\n\n\n\n<p class=\"has-text-align-right\">\u8457\u4f5c\u6743(2017 S. Karger AG, Basel)<\/p>\n\n\n\n<p>\u5206\u5b50\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790\u7684\u6539\u8fdb\u3002\u4f7f\u7528MLPA\u6216\u67d3\u8272\u4f53\u5fae\u9635\u5217\u6539\u8fdb\u7684\u5206\u5b50\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790\u7531\u4e8e\u4f7f\u7528\u67d3\u8272\u4f53\u5fae\u9635\u5217\u6539\u8fdb\u7684\u5206\u5b50\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790\uff0c\u5fae<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\/\u5fae<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d\u7efc\u5408\u75c7<\/a>\u5217\u8868\u7ee7\u7eed\u589e\u957f\u3002microduplication syndromes\u5217\u8868\u4e0d\u65ad\u589e\u52a0[Slavotinek, 2008; Nevado\u7b49 2014]\u3002\u5176\u4e2d\u4e00\u4e9b\u5177\u6709\u53ef\u8bc6\u522b\u7684\u8868\u578b\uff0c\u800c\u53e6\u4e00\u4e9b\u5219\u5177\u6709\u4e0d\u4e00\u81f4\u7684\u8868\u578b\uff0c\u5e76\u589e\u52a0\u4e86\u795e\u7ecf\u7cbe\u795e\u75be\u75c5\u7684\u98ce\u9669\uff3bKoolen\u7b49\u30012008\uff1bvan Bon\u7b49\u30012011\uff3d\u3002<\/p>\n\n\n\n<p>10q22.3q23.2\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\uff0c\u4e0e\u8ba4\u77e5\u969c\u788d\u548c\u884c\u4e3a\u5f02\u5e38\u6709\u5173\uff0c\u5df2\u88ab\u5b9a\u6027\u4e3a\u4e00\u79cd\u7f55\u89c1\u7684\u65b0\u578b\u7efc\u5408\u75c7\u3002[Balciuniene\u7b49\u30012007]\u3002 \u8be5\u533a\u57df\uff0c\u901a\u8fc7\u975e\u5bf9\u7acb\u57fa\u56e0\u540c\u6e90\u91cd\u7ec4(NAHR)[Lupski \u4e0e Stankiewicz, 2005]\u4ecb\u5bfc\u5f15\u8d77\u5404\u79cd\u57fa\u56e0\u7ec4\u53d8\u5316\uff0c\u5373\u8bbe\u8ba1LCR3\u4e0eLCR4\uff0c\u4e0e\u4e00\u7ec4\u590d\u6742\u7684\u590d\u5236\u91cd\u590d\u5e8f\u5217(LCR)\u76f8\u90bb\u3002<\/p>\n\n\n\n<p>\u8be5\u533a\u57dfLCR\u7684\u5b58\u5728\u8868\u660e\uff0c\u8be5\u4f4d\u70b9\u6781\u6613\u53d1\u751f\u67d3\u8272\u4f53\u91cd\u6392[Alliman\u7b49\u30012010]\u3002 \u7136\u800c\uff0c\u5728LCR3\/4\u5185\u7684\u5207\u65ad\u70b9\u53ea\u670914\u4e2a\u65b0\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u4ee5\u53ca7\u4e2a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u88ab\u63cf\u8ff0[Goss\u7b49 1998; Han\u7b49 2004; Dufke\u7b49 2006; Balciuniene\u7b49 2007; Erdogan\u7b49 2008; Alliman\u7b49 2010; Reddy\u7b49 2011; Singh\u7b49 2011; van Bon\u7b49 2011; Petrova\u7b49 2014]\u3002<\/p>\n\n\n\n<p>\u5728\u8fd9\u9879\u7814\u7a76\u4e2d\uff0c\u6211\u4eec\u62a5\u544a\u4e86\u4e00\u540d\u572810q22.3q23.2\u67097.8 Mb\u7684\u5fae<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u3001\u76f8\u90bbLCR3\/4\u3001\u53e6\u5916\u572816q12.1\u5904189kb\u7684\u5fae<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u7684\u60a3\u8005\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<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_82_2 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 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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\/10q22-3q23-2\/?lang=zh-hans\/#%E6%82%A3%E8%80%85%E4%B8%8E%E6%96%B9%E6%B3%95\" >\u60a3\u8005\u4e0e\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\/10q22-3q23-2\/?lang=zh-hans\/#%E7%97%85%E4%BE%8B%E6%8A%A5%E5%91%8A\" >\u75c5\u4f8b\u62a5\u544a<\/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\/10q22-3q23-2\/?lang=zh-hans\/#%E5%88%86%E5%AD%90%E7%BB%86%E8%83%9E%E9%81%97%E4%BC%A0%E5%AD%A6%E5%88%86%E6%9E%90\" >\u5206\u5b50\u7ec6\u80de\u9057\u4f20\u5b66\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-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3q23-2\/?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-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3q23-2\/?lang=zh-hans\/#%E9%B8%A3%E8%B0%A2\" >\u9e23\u8c22<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3q23-2\/?lang=zh-hans\/#%E4%BC%A6%E7%90%86%E5%A3%B0%E6%98%8E\" >\u4f26\u7406\u58f0\u660e<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3q23-2\/?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%82%A3%E8%80%85%E4%B8%8E%E6%96%B9%E6%B3%95\"><\/span>\u60a3\u8005\u4e0e\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h2>\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=\"%E7%97%85%E4%BE%8B%E6%8A%A5%E5%91%8A\"><\/span>\u75c5\u4f8b\u62a5\u544a<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e00\u540d3\u5c81\u7537\u5b69\uff0c\u56e0\u591a\u5904\u5f02\u5e38\u800c\u88ab\u8f6c\u4ecb\u5230FCM-UNICAMP\u7684\u9057\u4f20\u5b66\u670d\u52a1\u4e2d\u5fc3\u8fdb\u884c\u533b\u5b66\u9057\u4f20\u5b66\u54a8\u8be2\u3002\u7ecf\u9a8c\u4e30\u5bcc\u7684\u4e34\u5e8a\u9057\u4f20\u5b66\u5bb6\uff0c\u4f7f\u7528\u7531\u4e34\u5e8a\u53f2\u548c\u5bb6\u65cf\u53f2\u4fe1\u606f\u4ee5\u53ca\u7578\u5f62\u7279\u75c7\u7ec4\u6210\u7684\u7279\u5b9a\u6e05\u5355\u5bf9\u60a3\u8005\u8fdb\u884c\u8bc4\u4f30\u3002<\/p>\n\n\n\n<p>\u53d1\u7aef\u8005\uff0c\u662f\u6709\u81ea\u7136\u6d41\u4ea7\u53f2\uff0c\u4e14\u6709\u5e74\u9f84\u8f83\u5927\u7684\u5065\u5eb7\u5b69\u5b50\uff0c\u6ca1\u6709\u8840\u7f18\u5173\u7cfb\u7684\u7236\u6bcd\u6240\u751f\u7684\u7b2c2\u4e2a\u5b69\u5b50\u3002 \u4ed6\u7684\u5bb6\u65cf\u53f2\u5e76\u6ca1\u6709\u7279\u522b\u3002\u51fa\u751f\u65f6\u53d1\u73b0\u53cc\u4fa7\u5185\u53cd\u8db3\u3002\u4ed6\u5728\u65b0\u751f\u513f\u671f\u88ab\u8bca\u65ad\u51fa\u60a3\u6709\u6cd5\u6d1b\u56db\u8054\u75c7\uff0c\u5e76\u57289\u4e2a\u6708\u5927\u65f6\u63a5\u53d7\u4e86\u5fc3\u810f\u77eb\u6b63\u624b\u672f\u3002\u968f\u540e\u7684\u53d1\u80b2\u666e\u904d\u5ef6\u8fdf\uff0c\u5176\u4e2d\u62a5\u544a\u513f\u7ae5\u671f\u51fa\u73b01\u6b21\u70ed\u6027\u60ca\u53a5\u3002\u6b64\u5916\uff0c\u89c2\u5bdf\u5230\u4e0a\u547c\u5438\u9053\u611f\u67d3\u7684\u590d\u53d1\u3002<\/p>\n\n\n\n<p>3\u5c81\u65f6\u7684\u5f62\u6001\u5b66\u68c0\u67e5\u663e\u793a\uff0c\u524d\u989d\u9686\u8d77\uff0c\u53cc\u4fa7\u8fc7\u5ea6\u6298\u53e0\u87ba\u65cb\u548c\u7a81\u51fa\u7684\u53f3\u53cd\u8033\u8f6e\u5e76\u4f34\u6709\u4f4e\u524d\u626d\u66f2\uff0c\u53f3\u8033\u4ecb\u524d\u7a9d\uff0c\u7a00\u758f\u7709\u6bdb\uff0c\u4e0b\u659c\u7751\u88c2\uff0c\u6d45\u773c\u7736\uff0c\u9f3b\u5c16\u7403\u6839\u72b6\uff0c\u9ad8\u816d\uff0c\u53cc\u4fa7\u5185\u53cd\u8db3\uff0c\u53cc\u4fa7\u4e0d\u5b8c\u5168\u638c\u88c2\u3002<\/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<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%88%86%E5%AD%90%E7%BB%86%E8%83%9E%E9%81%97%E4%BC%A0%E5%AD%A6%E5%88%86%E6%9E%90\"><\/span>\u5206\u5b50\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4f7f\u7528CytoScan HD\u82af\u7247(Affymetrix, Santa Clara, CA, USA)\uff0c\u6839\u636e\u5236\u9020\u5546\u7684\u6307\u793a\u8fdb\u884c\u67d3\u8272\u4f53\u5fae\u9635\u5217\u5206\u6790\uff0c\u5e76\u4f7f\u7528\u67d3\u8272\u4f53\u5206\u6790\u5957\u4ef6(ChAS)\u8f6f\u4ef6(Affymetrix)\u5206\u6790\u3002 \u5bf9\u4e8e\u75c5\u539f\u6027CNV\u7684\u786e\u8ba4\uff0c\u4f7f\u7528Agilent Human Genome G3 SurePrint 8 \u00d7 60 K Microarray(Agilent Technologies, Santa Clara, CA, USA)\uff0c\u3001Agilent Cytogenomics\u8f6f\u4ef6(Agilent Technologies)\u5206\u6790\u3002 \u60a3\u8005\u7684\u67d3\u8272\u4f53\u5fae\u5217\u9635\u5206\u6790\u663e\u793a\uff0c\u572810q22.3q23.2\u67097.8 Mb\u7684\u5fae<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>(<strong>\u56fe1A,B<\/strong>)\u3002 \u6b64\u5916\uff0c\u4f5c\u8005\u7684\u75c5\u60a3\u8005\u572816q12.1(<strong>\u56fe2A\u3001B<\/strong>)\u4e0a\u6709189kb\u7684\u5fae<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>:arr[GRCh37]10q22.3q23.2(8146577_89253430)\u00d71,16q12.1(47127281_47316339)\u00d71\u3002\u8c03\u67e5\u8fd9\u4e9b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u7684\u7236\u6bcd\u6765\u6e90\uff0c\u7531\u4e8e\u65e0\u6cd5\u83b7\u5f97\u6837\u672c\u6240\u4ee5\u4e0d\u53ef\u80fd\u5b9e\u73b0\u3002 \u65e0\u6cd5\u5bf9\u60a3\u8005\u8ffd\u8e2a\uff0c\u65e0\u6cd5\u8fdb\u884c\u6838\u578b\u5206\u6790\u4ee5\u6392\u9664\u7ed3\u6784\u6027\u53d8\u5316\u3002<\/p>\n<\/div><\/div>\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>\u56fe1.<\/strong> &nbsp;\u53d7\u5f71\u54cd\u60a3\u8005\u7684\u9635\u5217\u7ed3\u679c\u3002 \u4f7f\u7528CytoScan HD\u82af\u7247\u5bf910\u53f7\u67d3\u8272\u4f53\u8fdb\u884c\u7684\u67d3\u8272\u4f53\u5fae\u9635\u5217\u5206\u6790(CMA)\u6742\u4ea4\u56fe\u8c31\u663e\u793a\u5728q22.3q23.2(81,446,577\uff5e89,253,430; hg 19)\u67097.8Mb\u7684\u5fae<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u3002 \u4f7f\u7528Agilent Human Genome G3 SurePrint 8\u00d760 K\u5fae\u9635\u5217\u5bf910\u53f7\u67d3\u8272\u4f53\u8fdb\u884cCMB\u6742\u4ea4\u5206\u6790\uff0c\u8bc1\u5b9e\u4e86q22.3q23.2\u7684\u5fae<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"816\" height=\"473\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/10q22.3q23-a.jpg\" alt=\"\" class=\"wp-image-18601\"\/><\/figure>\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>\u56fe2.<\/strong> \u53d7\u5f71\u54cd\u4e2a\u4f53\u7684\u7ed3\u679c\u914d\u5217\u3002 \u4f7f\u7528CytoScan HD\u82af\u7247\u5bf916\u53f7\u67d3\u8272\u4f53\u8fdb\u884c\u7684\u67d3\u8272\u4f53\u5fae\u9635\u5217\u5206\u6790(CMA)\u6742\u4ea4\u56fe\u8c31\u663e\u793a\u5728q12.1(47,127,281\uff5e47,316,339; hg 19)\u6709189kb\u7684\u5fae<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u3002 \u4f7f\u7528Agilent Human Genome G3 SurePrint 8\u00d760 K\u5fae\u9635\u5217\u5bf916\u53f7\u67d3\u8272\u4f53\u8fdb\u884c\u7684CMB\u6742\u4ea4\u5206\u6790\u8bc1\u5b9e\u4e86q12.1\u7684\u5fae<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"998\" height=\"430\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/10q22.3q23-b.jpg\" alt=\"\" class=\"wp-image-18603\"\/><\/figure>\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<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>\u6211\u4eec\u62a5\u544a\u4e86\u4e00\u4f8b\u60a3\u6709\u53d1\u80b2\u8fdf\u7f13\u3001\u5148\u5929\u6027\u5fc3\u810f\u75c5(CHD)\u3001\uff09\u3001\u9885\u9762\u7578\u5f62\u3001\u80a2\u4f53\u5f02\u5e38\u548c\u53cd\u590d\u611f\u67d3\u7684\u7537\u5b69\u3002\u4e8b\u5b9e\u4e0a\uff0c\u8be5\u60a3\u8005\u51fa\u73b0\u4e86\u7f55\u89c1\u768410q22q23<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931\u7efc\u5408\u75c7<\/a>(DS)\u548c\u9886\u57df\u91cd\u590d7.8Mb\u768410q22.3q23.2\u95f4\u8d28\u6027\u5fae<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u3002 \u62a5\u544a\u7684\u60a3\u8005\u4ee5\u53ca\u6709LCR3\/4 10q22.3q23.2<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u7684\u53d1\u7aef\u8005\u7684\u4e00\u822c\u4e34\u5e8a\u7279\u5f81\uff0c\u5305\u62ec\u516815\u4f8b\u5728\u5185\u7684\uff0c\u989c\u9762\u9885\u9762\u7578\u5f62\u7279\u5f81\u3001\u53d1\u80b2\u8fdf\u7f13(13\/15\u300187%)\u3001\u816d\u90e8\u53d8\u5316(6\/15\u300140%)\u3001\u5148\u5929\u6027\u5fc3\u810f\u75c5(6\/15\u300140%)\u3001\u4ee5\u53ca\u80a2\u4f53\u5f02\u5e38(10\/15\u300167%)\u3002 \u6211\u4eec\u7684\u75c5\u4eba\u4e2d\u5e76\u4e0d\u5b58\u572810q22q23 DS\u5176\u4ed6\u7f55\u89c1\u7684\u4e34\u5e8a\u7279\u5f81\u3001\u5982\u808c\u8089\u5f20\u529b\u964d\u4f4e(3\/15\u300120%)\u3001\u81ea\u95ed\u75c7(2\/15\u300113%)\u3001\u5173\u8282\u4f38\u5c55\u6027\u4ea2\u8fdb(2\/15\u300113%)(<strong>\u88681<\/strong>)\u3002\u989c\u9762\u9885\u9762\u7578\u5f62\uff0c\u53ef\u8bc6\u522b\u7684\u9762\u90e8\u8868\u578b\u3001\u6700\u5e38\u89c1\u7684\u5305\u62ec\u4f4e\u773c\u7751\u75c7\u6216\u9ad8\u773c\u7751\u75c7(9\/15\u300160%)\u3001\u4f4e\u8033\u4f4d\u6216\u5c0f\u8033(6\/15\u300140%)\u3001\u5411\u4e0a\u6216\u5411\u4e0b\u7684\u773c\u7751\u88c2(6\/15\u300140%)\u3001\u5411\u4e0a\u7684\u8936\u76b1(4\/15\u300127%)\u3001\u4ee5\u53ca\u6241\u5e73\u7684\u9f3b\u6881(3\/15\u300120%)\u3002 \u4f5c\u8005\u7684\u60a3\u8005\u51fa\u73b0\u4e86\uff0c\u4f4e\u8033\u4f4d\u548c\u5411\u4e0b\u7684\u773c\u7751\u88c2\u3002\u6700\u5e38\u89c1\u7684\u816d\u90e8\u53d8\u5316\u662f15\u4e2a\u75c5\u4f8b\u4e2d\u76845\u4e2a(33%)\u5305\u62ec\u672c\u6587\u62a5\u9053\u7684\u75c5\u4f8b\uff0c\u51fa\u73b0\u4e86\u9ad8\u816d\u3002 \u6700\u7ecf\u5e38\u89c2\u5bdf\u5230\u7684\u5148\u5929\u6027\u5fc3\u810f\u75c5\u662f15\u540d\u60a3\u8005\u4e2d\u76843\u540d(20%)\u53d1\u73b0\u4e86\u5fc3\u5ba4\u95f4\u9694\u7f3a\u9677\uff0c\u800c\u5728\u6211\u4eec\u7684\u60a3\u8005\u4e2d\u6ca1\u6709\u89c2\u5bdf\u5230\u6cd5\u6d1b\u6c0f\u56db\u8054\u75c7\u3002 \u80a2\u4f53\u5f02\u5e38\u901a\u5e38\u5305\u62ec\uff0c\u5185\u53cd\u8db3(4\/15\u300127%)\uff0c\u5728\u6211\u4eec\u7684\u60a3\u8005\u4e2d\u5f97\u5230\u4e86\u786e\u8ba4\u3002\u8fd8\u5305\u62ec\u86db\u7f51\u819c\u75c7(2\/15\u300113%)\u3002 \u5728\u6211\u4eec\u7684\u75c5\u4eba\u4e2d\u89c2\u5bdf\u5230\u7684\u53e6\u4e00\u4e2a\u4e34\u5e8a\u7279\u75c7\u662f\u590d\u53d1\u6027\u4e0a\u547c\u5438\u9053\u611f\u67d3\uff0c\u8fd9\u5728\u5176\u4ed610q22q23 DS\u75c5\u4f8b\u4e2d\u6ca1\u6709\u62a5\u9053\u3002\u5728\u4f5c\u8005\u7684\u60a3\u8005\u8eab\u4e0a\u68c0\u6d4b\u5230\u768410q22.3q23.2\u76847.8Mb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u533a\u57df\u5185\u670916\u4e2aOMIM\u57fa\u56e0\u3002 \u5176\u4e2d\u4e00\u4e9b\u57fa\u56e0\uff0c\u5982BMPR1A(601299)\u3001LDB3(605906)\u3001GRID1(610659)\u3001\u53caNRG3(605533)\uff0c\u5df2\u88ab\u63a8\u6d4b\u4e3a\u4e0e\u8be5\u8868\u578b\u76f8\u5173\u7684\u63a8\u5b9a\u5019\u9009\u57fa\u56e0\uff0c\u7279\u522b\u662f\u5728\u795e\u7ecf\u5fc3\u7406\u53d1\u80b2\u548c\u5fc3\u810f\u7f3a\u9677\u65b9\u9762[Balciuniene\u7b49 2007; van Bon\u7b49 2011; Breckpot\u7b49 2012]\u3002 \u9f50\u85e4\u7b49 [2012]\u8bc4\u4f30\u4e86\u7a81\u53d8\u4f53\u5c0f\u9f20\u6572\u9664BMPR1A\u86cb\u767d\u7684\u795e\u7ecf\u5d74\u884d\u751f\u7ec6\u80de\u7684\u5fc3\u810f\u5f62\u6001\uff0c\u7ed3\u679c\u663e\u793a\u5176\u4e2d\u4e00\u4e9b\u5c0f\u9f20\u8868\u73b0\u51fa\u9762\u90e8\u878d\u5408\u7f3a\u9677\uff0c\u5982\u9762\u90e8\u88c2\u7f1d\u548c\u816d\u88c2\uff0c\u6216\u9664\u5fc3\u810f\u7f3a\u9677\u5916\u8fd8\u6709\u9762\u90e8\u7578\u5f62\u7279\u75c7\u3002\u56e0\u6b64\uff0c\u5728\u4f5c\u8005\u7684\u75c5\u4eba\u4e2d\u89c2\u5bdf\u5230\u7684\u9885\u9762\u7578\u5f62\u548c\u5148\u5929\u6027\u5fc3\u810f\u75c5\u53ef\u80fd\u90e8\u5206\u662f\u7531BMPR1A\u57fa\u56e0\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u5f15\u8d77\u7684\u3002<\/p>\n\n\n\n<p>BMPR1A\u57fa\u56e0\u7684\u6742\u5408\u70b9\u7a81\u53d8\u6216\u90e8\u5206<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\uff0c\u8fd8\u4e0e\u5e7c\u5e74\u6027\u606f\u8089\u75c5\u7efc\u5408\u75c7(OMIM 174900)\u6709\u5173[Larsen \u4e0e Howe, 2017]\u5176\u7279\u5f81\u662f\u80c3\u80a0\u9053\u51fa\u73b0\u9519\u6784\u7624\u6027\u606f\u8089\u3002 \u60a3\u670910q22.3q23.2<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u7684\u60a3\u8005\u4e2d\uff0c\u88ab\u79f0\u4e3a\u5e7c\u5e74\u6027\u606f\u8089\u75c5\u7efc\u5408\u75c7\u5e7c\u5e74\u6027\u606f\u8089\u75c5\u7efc\u5408\u75c7\u76841\u4e2a\u4e9a\u578b\uff0c\u53ea\u6709\u5728BMPR1A\u4ee5\u53caPTEN\u57fa\u56e0\u76842\u65b9<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u7684\u60a3\u8005\u4e2d\u89c2\u5bdf\u5230\u3002[Menko\u7b49\u30012008]\u3002 PTEN\uff0c\u5177\u6709\u516c\u8ba4\u7684\u80bf\u7624\u6291\u5236\u4f5c\u7528[Li\u7b49 1997]\uff0c\u5e76\u4e0eCowden\u7efc\u5408\u75c7\u548cBannayan-Riley-Ruvalcaba\u7efc\u5408\u75c7\u6709\u5173\uff0c\u8fd9\u8868\u660e\u606f\u8089\u75c5\u53d1\u5c55\u7684\u5fc5\u8981\u6761\u4ef6BMPR1A\u53caPTEN2\u65b9\u8fde\u7eed\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u662f\u5fc5\u8981\u6761\u4ef6[Zhou\u7b49 2003; Dahdaleh\u7b49 2012]\u3002 PTEN\uff0c\u5728LCR 3\/4\u4fa7\u976210q22.3q23.2\u4e0d\u5b58\u5728<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\uff0c\u6709\u540c\u6837\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u7684\u60a3\u8005\uff0c\u5728\u53d1\u73b0\u5a74\u513f\u671f\u51fa\u73b0\u5e7c\u5e74\u6027\u606f\u8089\u75c5\u6216\u606f\u8089\u75c5\u8868\u578b\u7684\u62a5\u544a\u4e2d\u5e76\u4e0d\u5b58\u5728[Petrova\u7b49 2014]\u3002<\/p>\n\n\n\n<p>LDB3\u7f16\u7801\u53c2\u4e0e\u7ec6\u80de\u9aa8\u67b6\u7ec4\u88c5\u7684LIM\u7ed3\u5408\u7ed3\u6784\u57df3\u86cb\u767d\u8d28\uff0c\u8be5\u57fa\u56e0\u7684\u7a81\u53d8\u4e0e\u4eba\u7c7b\u6269\u5f20\u578b\u5fc3\u808c\u75c5\u6709\u5173[Vatta\u7b49 2002; Hershberger\u7b49 2008]\u3002 \u8fd9\u79cd\u86cb\u767d\u8d28\u5bf9\u5fc3\u810f\u529f\u80fd\u6216\u7ed3\u6784\u7684\u5f71\u54cd\u6b63\u5728\u7814\u7a76\u4e2d[Aliman\u7b49\u30012010]\u3002<\/p>\n\n\n\n<p>GRID1\u57fa\u56e0\u7f16\u7801\u8c37\u6c28\u9178\u53d7\u4f53\u901a\u9053\u7684\u4e00\u4e2a\u4e9a\u57fa\uff0c\u5e76\u5728\u4e2d\u67a2\u795e\u7ecf\u7cfb\u7edf\u4e2d\u4ecb\u5bfc\u5174\u594b\u6027\u7a81\u89e6\u4f20\u9012\u4e2d\u53d1\u6325\u4f5c\u7528[Yamazaki\u7b49\u30011992]\u3002 Vasan\u7b49 [2009]\uff0c\u901a\u8fc7\u5bf9\u4e0e\u5fc3\u810f\u7ed3\u6784\u548c\u529f\u80fd\u76f8\u5173\u7684\u5e38\u89c1\u9057\u4f20\u53d8\u5f02\u8fdb\u884c\u5168\u57fa\u56e0\u7ec4\u5173\u8054\u835f\u8403\u5206\u6790\uff0c\u63d0\u51faGRID1\u4f5c\u4e3a\u5de6\u5fc3\u5ba4\u58c1\u539a\u5ea6\u7684\u5019\u9009\u57fa\u56e0\u3002\u6b64\u5916\uff0c\u8be5\u57fa\u56e0\u5728\u591a\u9879\u7814\u7a76\u4e2d[Fallin\u7b49 2005; Coyle, 2006; van Bon\u7b49 2011]\u4e0e\u7cbe\u795e\u5206\u88c2\u75c7\u6709\u5173\u3002\u53e6\u4e00\u4e2a\u4f4d\u4e8eGRID1\u9644\u8fd1\u5e76\u636e\u62a5\u9053\u4e0e\u7cbe\u795e\u5206\u88c2\u75c7\u98ce\u9669\u548c\u75c7\u72b6\u76f8\u5173\u7684\u57fa\u56e0\u662fNRG3[Chen\u7b49 2009]\u3002NRG3\u5728\u795e\u7ecf\u7cfb\u7edf\u3001\u5fc3\u810f\u3001\u4e73\u623f\u548c\u5176\u4ed6\u5668\u5b98\u7cfb\u7edf\u4e2d\u4ecb\u5bfc\u7ec6\u80de\u95f4\u76f8\u4e92\u4f5c\u7528\u7684\u4fe1\u53f7\u86cb\u767d\u4e2d\u53d1\u6325\u4f5c\u7528[Falls, 2003]\u3002<\/p>\n\n\n\n<p>\u6b64\u5916\uff0c\u6211\u4eec\u7684\u60a3\u8005\u572816q12.1(189 kb)\u5904\u6709\u4e00\u4e2a\u5fae<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u3002 \u8be5\u533a\u57df\u5305\u542b2\u4e2aOMIM\u57fa\u56e0: NETO2(607974)\u53caITFG1(611803)\u3002 NETO2\u662f\u4e00\u79cd\u7ea2\u85fb\u6c28\u9178\u53d7\u4f53\u4e9a\u57fa\uff0c\u88ab\u8ba4\u4e3a\u5bf9\u5927\u8111\u4e2d\u7684\u8c37\u6c28\u9178\u4fe1\u53f7\u4f20\u5bfc\u6709\u663e\u7740\u5f71\u54cd[Zhang\u7b49 2009]\u3002 ITFG1\uff0c\u662f\u4e00\u79cd\u5177\u6709\u7ec6\u80de\u7c98\u9644\u529f\u80fd\u7684\u8de8\u819c\u86cb\u767d[Kato\u7b49\u30012014]\u3002 \u8fd9\u79cd<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\uff0c\u5728DGV\u6570\u636e\u5e93\u4e2d(http:\/\/projects.tcag.ca\/variation)\u90fd\u6ca1\u6709\u68c0\u6d4b\u5230\u3002 DECIPHERDatabase(https:\/\/decipher.sanger.ac.uk\/),\u3001\u5728\u672c\u75c7\u4f8b\u4e2d\u786e\u8ba4\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u5305\u62ec\u66f4\u5927\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>)\uff0c2\u4f8b(2856\u4f8b\u4ee5\u53ca289229\u4f8b)\u770b\u5230\u7684\u552f\u4e00\u7684\u8bb0\u8f7d\uff0c\u89c2\u5bdf\u5230\u8fd9\u79cd\u60c5\u51b5\u4e0b\u548c\u672c\u75c5\u75c7\u6709\u5171\u540c\u7684\u53d1\u80b2\u5ef6\u8fdf\u3002 \u53e6\u5916\uff0cDECIPHER\u7531\u6765\u7684\u75c5\u75c7289229\u51fa\u73b0\u4e86\u5148\u5929\u6027\u5fc3\u810f\u75c5\uff0c\u5373\u5fc3\u623f\u4e2d\u9694\u7f3a\u635f\u3002 \u4e3a\u4e86\u9610\u660e\u8fd9\u79cd<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u7684\u8868\u578b\u91cd\u8981\u6027\uff0c\u9700\u8981\u6709\u5173\u5177\u6709\u7c7b\u4f3c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u7684\u5176\u4ed6\u4e2a\u4f53\u7684\u66f4\u8be6\u7ec6\u4fe1\u606f\uff0c\u7279\u522b\u662f\u6709\u5173\u8fd9\u4e9b\u57fa\u56e0\u7684\u7279\u5b9a\u529f\u80fd\u7684\u4fe1\u606f\u3002\u6b64\u5916\uff0c10q22q23 DS\u60a3\u8005\u4e2d15\u540d\u4e2d3\u540d\u5b58\u5728\u67d3\u8272\u4f53\u5f02\u5e38(<strong>\u88681<\/strong>)\uff0c\u53ef\u80fd\u5f71\u54cd\u8868\u73b0\u578b\u3002 \u6700\u8fd1\uff0c\u5927\u578b\u57fa\u56e0\u7ec4\u89c4\u6a21\u7684\u7ed3\u6784\u53d8\u4f53\uff0c\u5373\u6d89\u53ca\u5927\u91cf DNA \u78b1\u57fa\u7684\u53d8\u5316\uff0c\u5df2\u4e0e\u4e00\u6b21\u6027\u4e8b\u4ef6(chromoanasynthesis\u548cchromotrypsis\u6837\u4e8b\u4ef6)\u4e2d\u4ea7\u751f\u7684\u5176\u4ed6\u7ed3\u6784\u53d8\u4f53\u6216\u6742\u5408\u6027\u76f8\u5173\u8054\u3002\u4e0e\u8fdb\u4e00\u6b65\u7684\u5e76\u53d1\u75c7\u6709\u5173\uff0c\u4f8b\u5982\u7f3a\u4e4f\u7ec6\u80de\u6838\u7684\u590d\u6742\u57fa\u56e0\u7ec4\u91cd\u6392[Carvalo \u4e0e Lupski, 2016]\u3002 \u5c3d\u7ba1\u4e0d\u540c\u7684\u75be\u75c5\u8868\u578b\u5f71\u54cd\u4e0d\u540c\u7684\u5668\u5b98\u7cfb\u7edf\uff0c\u4f46\u91cd\u53e0\u7684\u75be\u75c5\u8868\u578b\u53ef\u80fd\u662f\u7531\u7f16\u7801\u5728\u540c\u4e00\u9014\u5f84\u5185\u76f8\u4e92\u4f5c\u7528\u7684\u86cb\u767d\u8d28\u76842\u4e2a\u57fa\u56e0\u5f15\u8d77\u7684\u3002\u591a\u4e2a\u57fa\u56e0\u4e2d\u81f4\u75c5\u53d8\u5f02\u4e4b\u95f4\u7684\u8fd9\u79cd\u76f8\u4e92\u4f5c\u7528\u5bfc\u81f4\u57281\u4e2a\u60a3\u8005\u4e2d\u89c2\u5bdf\u5230\u590d\u6742\u7684\u8868\u578b\u8c31\uff0c\u4ece\u800c\u5bfc\u81f4\u76f8\u5173\u57fa\u56e0\u7ec4\u75be\u75c5\u7684\u53d8\u5f02\u6027[Posey\u7b49 2017]\u3002<\/p>\n\n\n\n<p>\u5728\u6211\u4eec\u7684\u60a3\u8005\u4e2d\u770b\u5230\u7684\u5927\u591a\u6570\u4e34\u5e8a\u75c7\u72b6\u90fd\u62a5\u544a\u4e3a\u7f55\u89c1\u768410q22q23 DS\u3002 \u7136\u800c\uff0c\u5728\u6211\u4eec\u7684\u60a3\u8005\u548c\u5176\u4ed6\u5177\u6709\u8fd9\u79cd\u7f3a\u5931\u7684\u60a3\u8005\u4e2d\u7684\u53d1\u73b0\u4e0d\u5141\u8bb8\u5bf9\u6838\u5fc3\u8868\u578b\u8fdb\u884c\u8868\u75c7\u3002\u6b64\u5916\uff0c\u4e0d\u80fd\u6392\u966416q12.1<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u5bf9\u8868\u578b\u7684\u5f71\u54cd\u3002<\/p>\n\n\n\n<p>\u8bc6\u522b\u5e74\u8f7b\u60a3\u8005\u7684\u7f55\u89c1\u548c\u65b0\u578b\u57fa\u56e0\u7ec4\u5931\u8861\u53ef\u4ee5\u901a\u8fc7\u5bf9\u884c\u4e3a\u5f02\u5e38\u548c\u53d1\u80b2\u8fdf\u7f13\u8fdb\u884c\u65e9\u671f\u5e72\u9884\u6765\u6539\u53d8\u4e34\u5e8a\u7ba1\u7406\uff0c\u5e76\u786e\u4fdd\u5177\u4f53\u7684\u968f\u8bbf\u3002\u5176\u4ed6\u75c5\u4f8b\u5c06\u6539\u5584\u57fa\u56e0\u578b-\u8868\u578b\u76f8\u5173\u6027\u4ee5\u53ca\u591a\u79cd\u7f55\u89c1\u53d8\u5f02\u5bf9\u8fd9\u79cd\u75be\u75c5\u75c5\u56e0\u7684\u5f71\u54cd\u3002<\/p>\n<\/div><\/div>\n\n\n\n<section class=\"note_table\">\n<p><strong>\u88681<\/strong> \u60a3\u6709LCR3\/4\u76f8\u90bb10q22.3q23.3\u7f3a\u5931\u7684\u60a3\u8005\u7684\u4e34\u5e8a\u7279\u5f81<\/p>\n<div class=\"table-sp-scroll\">\n<figure>\n<table>\n<colgroup>\n    <col style=\"width:calc(100% \/ 12)\">\n    <col style=\"width:5%\">\n    <col style=\"width:calc(100% \/ 12)\">\n    <col style=\"width:5%\">\n    <col style=\"width:calc(100% \/ 12)\">\n    <col style=\"width:4%\">\n    <col style=\"width:calc(100% \/ 12)\">\n    <col style=\"width:calc(100% \/ 12)\">\n    <col>\n    <col style=\"width:calc(100% \/ 12)\">\n    <col>\n    <col style=\"width:calc(100% \/ 12)\">\n<\/colgroup>\n<thead>\n<tr>\n<th>\u53c2\u8003\u6587\u732e\u3001\u75c5\u4f8b<\/th><th>\u5220\u9664\u5927\u5c0f<\/th><th>\u9057\u4f20<\/th><th><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a><\/th><th>\u8bc4\u4f30\u65f6\u7684\u5e74\u9f84<\/th><th>\u53d1\u80b2\u8fdf\u7f13<\/th><th>\u5148\u5929\u6027\u5fc3\u810f\u75c5<\/th><th>Palate\u7684\u53d8\u66f4<\/th><th>\u9885\u9762\u7578\u5f62\u6027<\/th><th>\u624b\u8db3\u7684\u53d8\u5316<\/th><th>\u5176\u4ed6\u4e34\u5e8a\u7279\u75c7<\/th><th>\u5176\u4ed6\u7578\u5f62<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td colspan=\"12\">Barsiunien\u7b49 [2007]<\/td>\n<\/tr>\n<tr>\n<td>UM10qDel-01<\/td><td>7.5 Mb<\/td><td>de novo<\/td><td>\u7537\u6027<\/td><td>3\u5c816\u4e2a\u6708<\/td><td>+<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>\u8f7b\u5ea6\u7684\u7279\u5f81<\/td><td>&#8211;<\/td><td>\u81ea\u95ed\u75c7<\/td><td>&#8211;<\/td>\n<\/tr>\n<tr>\n<td>JHU10qDel-01<\/td><td>7.5 Mb<\/td><td>de novo<\/td><td>\u7537\u6027<\/td><td>1\u5c816\u4e2a\u6708<\/td><td>+<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>\u767d\u524d\u9501<\/td><td>&#8211;<\/td><td>\u5c0f\u8111\u540e\u90e8\u3001\u5c0f\u56ca\u80de\u3001\u5c0f\u8111<\/td><td>\u2013<\/td>\n<\/tr>\n<tr>\n<td colspan=\"12\">Alliman\u7b49 [2010]<\/td>\n<\/tr>\n<tr>\n<td>\u75c7\u4f8b1<\/td><td>7.25 Mb<\/td><td>de novo<\/td><td>\u7537\u6027<\/td><td>2\u5c817\u4e2a\u6708<\/td><td>+<\/td><td>\u52a8\u8109\u7ba1\u5f00\u5b58<\/td><td>\u9ad8\u5f13\u72b6\u53e3\u76d6<\/td><td>\u8f7b\u5ea6\u9ad8\u8272\u7d20\u7d20\u75c7\u3001\u76f4\u7acb\u773c\u7751\u88c2\u3001\u4fa7\u8033\u5ed3\u8fc7\u5ea6\u6298\u53e0\u3001\u8033\u5782\u76b1\u8936\u3001\u4e0a\u5507\u8584\u3001\u5c0f\u988c\u7578\u5f62<\/td><td>\u8718\u86db\u6307\u7efc\u5408\u75c7<\/td><td>\u81ea\u95ed\u75c7\u3001\u5173\u8282\u7684\u4f38\u5c55\u6027\u4ea2\u8fdb<\/td><td>\u2013<\/td>\n<\/tr>\n<tr>\n<td>\u75c7\u4f8b2<\/td><td>7.25 Mb<\/td><td>de novo<\/td><td>\u5973\u6027<\/td><td>17\u5c811\u4e2a\u6708<\/td><td>+<\/td><td>&#8211;<\/td><td>\u9ad8\u5f13\u72b6\u53e3\u76d6<\/td><td>\u8f7b\u5ea6\u9762\u90e8\u4e0d\u5bf9\u79f0\u3001\u773c\u7751\u4e0b\u88c2\u3001\u8fb9\u7f18\u96c6\u8033\u3001\u8138\u988a\u6241\u5e73\u3001\u7a81\u51fa<\/td><td>\u8f7b\u5ea6\u8718\u86db\u6307\u7efc\u5408\u75c7<\/td><td>\u8f7b\u5ea6\u808c\u8089\u5f20\u529b\u4e0d\u8db3\u3001\u5173\u8282\u7684\u4f38\u5c55\u6027\u4ea2\u8fdb\u3001\u6709\u8fd1\u89c6\u53f2\u3001\u6ce8\u610f\u529b\u7f3a\u9677\/\u591a\u52a8\u75c7<\/td><td>\u2013<\/td>\n<\/tr>\n<tr>\n<td>\u75c7\u4f8b3<\/td><td>7.25 Mb<\/td><td>de novo<\/td><td>\u7537\u6027<\/td><td>8\u5929<\/td><td>NA<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>\u8f7b\u5ea6\u659c\u5934\u75c7\u3001\u9ad8\u773c\u7751\u75c7\u3001\u8f7b\u5ea6\u4e0a\u773c\u808c\u8936\u76b1\u3001\u4f4e\u4f4d\u3001\u540e\u65b9\u56de\u65cb\u8033\u3001\u5916\u8033\u9053\u72ed\u7a84\u4f34\u968f\u6b63\u5e38\u5934\u75c7<\/td><td>\u53cc\u4fa7\u5185\u53cd\u8db3<\/td><td>\u8f7b\u5ea6\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u53cc\u4fa7\u542c\u529b\u635f\u5931<\/td><td>\u2013<\/td>\n<\/tr>\n<tr>\n<td>\u75c7\u4f8b4<\/td><td>7.25 Mb<\/td><td>de novo<\/td><td>\u7537\u6027<\/td><td>1\u5c818\u4e2a\u6708<\/td><td>+<\/td><td>&#8211;<\/td><td>\u9ad8\u5f13\u72b6\u53e3\u76d6<\/td><td>\u5de8\u5934\u75c7\u3001\u524d\u5934\u90e8\u51f8\u8d77\u3001\u72ed\u7a84\u3001\u989a\u540e\u75c7\u3001\u5c0f\u53e3\u3001\u4e0b\u659c\u773c\u7751\u88c2\u3001\u9ad8\u8272\u7d20\u75c7\u3001\u5c0f\u540e\u8033\u3001\u53cc\u4fa7\u5207\u53e3\u4e2d\u87ba\u65cb<\/td><td>&#8211;<\/td><td>\u8f7b\u5ea6\u7684\u808c\u8089\u5f20\u529b\u4f4e\u4e0b\u3001\u53d1\u80b2\u4e0d\u826f<\/td><td>\u2013<\/td>\n<\/tr>\n<tr>\n<td colspan=\"12\">van Bon\u7b49 [2011]<\/td>\n<\/tr>\n<tr>\n<td>\u60a3\u80051<\/td><td>7.2 Mb<\/td><td>de novo<\/td><td>\u5973\u6027<\/td><td>22\u5c81\u4ee5\u4e0a<\/td><td>+<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>\u672b\u68a2\u529f\u80fd\u4f4e\u4e0b\u3001\u6b63\u4f4d\u773c\u7751\u88c2\u3001\u773c\u7751\u4e0b\u5782\u3001\u4f4e\u4f4d\u5c0f\u8033<\/td><td>\u5bbd\u5927\u7684\u5927\u811a\u8dbe\u548c\u62c7\u6307<\/td><td>\u4e73\u623f\u5f62\u6210\u4e0d\u5168<\/td><td>&#8211;<\/td>\n<\/tr>\n<tr>\n<td>\u60a3\u80052<\/td><td>7.2 Mb<\/td><td>de novo<\/td><td>\u5973\u6027<\/td><td>2\u5c816\u4e2a\u6708<\/td><td>+<\/td><td>\u5fc3\u623f\u5ba4\u4e2d\u9694\u7f3a\u9677<\/td><td>&#8211;<\/td><td>\u9ad8\u773c\u7751\u75c7\u3001\u524d\u637b\u9f3b\u5b54\u3001\u5e73\u9f3b\u6881\u3001\u5927\u5634\u3001telecanthus\u3001\u8033\u4ecb\u4f4e\u4f4d<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td>\n<\/tr>\n<tr>\n<td>\u60a3\u80053<\/td><td>7.7 Mb<\/td><td>de novo<\/td><td>\u7537\u6027<\/td><td>3\u5c817\u4e2a\u6708<\/td><td>+<\/td><td>&#8211;<\/td><td>\u9ad8\u5f13\u72b6\u53e3\u76d6<\/td><td>dolichocephalic\u3001\u9ad8\u773c\u7751\u75c7\u3001\u773c\u7751\u4e0a\u8936\u76b1\u3001\u5e73\u9f3b\u6881\u3001\u9762\u90e8\u6b63\u4e2d\u51f9\u9677\u3001\u8033\u4ecb\u4f4e\u4f4d<\/td><td>\u540e\u7f6e\u6bcd\u6307<\/td><td>\u6076\u884c\u9f7f\u3001ChiariI\u7578\u5f62\u3001\u766b\u75eb<\/td><td>de novo 2q36.3\u590d\u5236(722 kb)<\/td>\n<\/tr>\n<tr>\n<td>\u60a3\u80054<\/td><td>7.7 Mb<\/td><td>de novo<\/td><td>\u7537\u6027<\/td><td>12\u5c81<\/td><td>+<\/td><td>TR\u3001\u80ba\u52a8\u8109\u74e3\u9006\u6d41<\/td><td>&#8211;<\/td><td>\u957f\u8138\u3001hyperrorism\u3001\u674f\u4ec1\u5f62\u773c\u775b<\/td><td>\u6861\u5c3a\u9aa8\u6108\u5408\u3001\u4fa7\u5f2f\u3001\u540e\u5f2f\u3001\u6f0f\u6597\u80f8<\/td><td>\u5496\u5561\u72b6\u6591\u70b9<\/td><td>47,XYY<\/td>\n<\/tr>\n<tr>\n<td>\u60a3\u80055<\/td><td>7.5 Mb<\/td><td>\u6765\u6e90\u4e8e\u6bcd\u4eb2<\/td><td>\u7537\u6027<\/td><td>5\u5c81<\/td><td>+<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>\u9ad8\u773c\u7751\u75c7\u3001\u5bbd\u9f3b\u6881\u3001\u5e73\u9f3b\u6881\u3001\u8033\u4ecb\u4f4e\u4f4d<\/td><td>\u53cc\u4fa7\u5185\u53cd\u8db3<\/td><td>\u62ab\u7740\u9634\u56ca<\/td><td>&#8211;<\/td>\n<\/tr>\n<tr>\n<td colspan=\"12\">Reddy\u7b49 [2011]<\/td>\n<\/tr>\n<tr>\n<td>\u75c7\u4f8b2<\/td><td>7.7 Mb<\/td><td>de novo<\/td><td>\u5973\u6027<\/td><td>4\u5c81<\/td><td>+<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>\u5bbd\u9f3b\u3001\u4e0b\u5507\u5185\u7ffb\u3001\u7eff\u8272\u8fb9\u754c<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td>\n<\/tr>\n<tr>\n<td colspan=\"12\">Singh\u7b49 [2011]<\/td>\n<\/tr>\n<tr>\n<td>\u75c7\u4f8b\u62a5\u544a<\/td><td>7.46 Mb<\/td><td>de novo<\/td><td>\u5973\u6027<\/td><td>5\u5c816\u4e2a\u6708<\/td><td>+<\/td><td>\u5fc3\u623f\u5fc3\u5ba4\u4e2d\u9694\u7f3a\u635f<\/td><td>&#8211;<\/td><td>\u8f7b\u5ea6\u5929\u76d6\u88c2\u3001\u53f3\u5916\u659c\u89c6<\/td><td>\u89d2\u8d28\u589e\u751f\u75c7\u3001\u7b2c5\u8dbe\u6307\u7532<\/td><td>\u6301\u7eed\u6027\u3001\u9891\u7e41\u6027\u547c\u5438\u3001\u518d\u53d1\u6027\u4e2d\u8033\u708e \u4e2d\u8033\u708e<\/td><td>\u2013<\/td>\n<\/tr>\n<tr>\n<td colspan=\"12\">Petrova\u7b49 [2014]<\/td>\n<\/tr>\n<tr>\n<td>\u4e34\u5e8a\u62a5\u544a<\/td><td>7.3 Mb<\/td><td>de novo<\/td><td>\u7537\u6027<\/td><td>2\u5c81<\/td><td>&#8211;<\/td><td>\u5fc3\u623f\u5fc3\u5ba4\u4e2d\u9694\u7f3a\u635f\u3001\u6301\u7eed\u6027\u5375\u5706\u5b54<\/td><td>\u6b63\u4e2d\u4f4d\u816d\u88c2<\/td><td>\u9ad8\u773c\u7751\u75c7\u3001\u9ad8\u989d\u5934\u3001\u5bbd\u9f3b\u6881\u3001\u7a81\u51fa\u7684\u7751\u88c2\u3001\u4e0a\u988c\u76b1\u895e\u3001\u540e\u988c\u90e8\u3001\u820c\u4e0b\u5782<\/td><td>\u53f3\u4fa7\u5185\u53cd\u8db3<\/td><td>\u2013<\/td><td>\u2013<\/td>\n<\/tr>\n<tr>\n<td>\u73b0\u5728\u7684\u75c7\u4f8b<\/td><td>7.8 Mb<\/td><td>\u4e0d\u660e<\/td><td>\u7537\u6027<\/td><td>3\u5c81<\/td><td>+<\/td><td>\u6cd5\u6d1b\u56db\u8054\u75c7<\/td><td>\u9ad8\u5f13\u72b6\u53e3\u76d6<\/td><td>\u524d\u989d\u7a81\u8d77\u3001\u8033\u5ed3\u4f4e\u4f4d\u4e14\u524d\u62e7\u3001\u53cc\u4fa7\u8d85\u6298\u53e0\u87ba\u65cb\u8033\u5ed3\u3001\u53f3\u4fa7\u5bf9\u8033\u8f6e\u7a81\u51fa\u3001\u53f3\u8033\u4ecb\u524d\u7a9d\u3001\u8f7b\u5ea6\u7709\u6bdb\u3001\u4e0b\u659c\u7751\u88c2\u3001\u773c\u7736\u6d45\u3001\u9f3b\u7403\u524d\u7aef<\/td><td>\u53cc\u4fa7\u5185\u53cd\u8db3\u3001\u53cc\u4fa7\u4e0d\u5b8c\u5168\u638c\u4fa7\u76b1\u8936<\/td><td>\u518d\u53d1\u6027\u4e0a\u547c\u5438\u9053\u611f\u67d3<\/td><td>16q12.1\u7f3a\u5931(189 kb)<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/figure>\n<\/div>\n<\/section>\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<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%B8%A3%E8%B0%A2\"><\/span>\u9e23\u8c22<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6211\u4eec\u611f\u8c22\u5df4\u897f\u5723\u4fdd\u7f57\u574e\u76ae\u7eb3\u65af\u5927\u5b66\u533b\u5b66\u7cfb\u5206\u5b50\u9057\u4f20\u5b66\u5b9e\u9a8c\u5ba4\uff0c\u611f\u8c22\u60a3\u8005\u53ca\u5176\u5bb6\u5c5e\u7684\u5408\u4f5c\uff0c\u611f\u8c22\u4e3a\u591a\u7528\u6237\u4eea\u5668\u5b9e\u9a8c\u5ba4\u63d0\u4f9b\u7684\u4eea\u5668\u3001GeneChip Fluidics Station\u3001GeneChip Scanner\u7684\u652f\u6301\u3002<\/p>\n\n\n\n<p>\u672c\u7814\u7a76\u5f97\u5230\u4e86FAPESP \u2013 Fundaco de Amparo to Pesquissa do Estado Sano Paulo (2008\/10596-0, 2009\/08756-1, 2011\/23794-7, 2012\/51799-6)\u4ee5\u53caCNPq \u2013 Conselho Desolvimento Cientifico Technologico (149600\/2010-0, 471422\/2011-8)\u7684\u652f\u6301\u3002 V.L.G.-d.-S.-L.\u7684CNPq(30455\/2012-1)\u652f\u6301\u3002<\/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<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BC%A6%E7%90%86%E5%A3%B0%E6%98%8E\"><\/span>\u4f26\u7406\u58f0\u660e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8be5\u7814\u7a76\u5f97\u5230\u4e86\u574e\u76ae\u7eb3\u65af\u5927\u5b66\u4f26\u7406\u59d4\u5458\u4f1a(No)\u7684\u6279\u51c6\u3002 487\/2009\u53ca433\/2010\u3002 \u5df2\u5f81\u5f97\u60a3\u8005\u7236\u6bcd\u7684\u4e66\u9762\u77e5\u60c5\u540c\u610f\u3002 \u516c\u5f00\u58f0\u660e\uff0c\u4f5c\u8005\u58f0\u660e\u4e0e\u672c\u6587\u7684\u7814\u7a76\u3001\u8457\u4f5c\u6743\/\u548c\u51fa\u7248\uff0c\u6ca1\u6709\u6f5c\u5728\u7684\u5229\u76ca\u51b2\u7a81\u3002<\/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<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<p>Alliman S, Coppinger J, Marcadier J, Thiese H, Brock P, et al: 10q22.3q23.2\u590d\u53d1\u6027\u57fa\u56e0\u7ec4\u75be\u75c5\u60a3\u8005\u7684\u4e34\u5e8a\u548c\u5206\u5b50\u7279\u5f81\u3002 Clin Genet 78: 162-168 (2010)<\/p>\n\n\n\n<p>BarsiunienJ\u3001FengN\u3001IyaduraiK\u3001HirschB\u3001CharnasL\u7b49:\u590d\u53d1\u602710q22-q23\u7f3a\u5931:\u8ba4\u77e5\u548c\u884c\u4e3a\u5f02\u5e38\u4e0e10q\u4e0a\u7684\u57fa\u56e0\u7ec4\u75be\u75c5\u6709\u5173\u3002 Am J Hum Genet 80: 938\u2013947 (2007).<\/p>\n\n\n\n<p>Breckpot J, Tranchevent LC, Thienpont B, Bauters M, Troost E, et al: BMPR1A\uff0c\u590d\u53d1\u602710q22q23\u7f3a\u5931\u7efc\u5408\u75c7\u4e0e\u5148\u5929\u6027\u5fc3\u810f\u75c5\u7684\u5019\u9009\u57fa\u56e0\u76f8\u5173\u3002 Eur J Med Genet 55: 12\u201316 (2012).<\/p>\n\n\n\n<p>Carvalho CM, Lupski JR: \u57fa\u56e0\u7ec4\u75be\u75c5\u4e2d\u7ed3\u6784\u53d8\u5f02\u5f62\u6210\u7684\u673a\u5236\u3002 Nat Rev Genet 17: 224\u2013238 (2016). Chen PL, Avramopoulos D, Lasseter VK, Mc-Grath JA, Fallin MD, et al: \u67d3\u8272\u4f5310q22-q23\u4e0a\u7684\u7cbe\u7ec6\u56fe\u8c31\u663e\u793a\uff0c\u795e\u7ecf\u8c37\u86cb\u767d3\u4e0e\u7cbe\u795e\u5206\u88c2\u75c7\u6709\u5173\u3002 Am J Hum Genet 84: 21\u201334 (2009).<\/p>\n\n\n\n<p>CoyleJT:\u8c37\u6c28\u9178\u548c\u7cbe\u795e\u5206\u88c2\u75c7:\u8d85\u8d8a\u591a\u5df4\u80fa\u5047\u8bf4\u3002 Cell Mol Neurobiol 26: 365\u2013384 (2006).<\/p>\n\n\n\n<p>Dahdaleh FS, Carr JC, Calva D, Howe JR: \u67d3\u8272\u4f5310q22-23\u7684\u5fae\u7f3a\u5931\u4f34\u968f\u5c11\u5e74\u6027\u606f\u8089\u75c5\u548c\u5176\u4ed6\u80a0\u9053\u606f\u8089\u75c5\u7efc\u5408\u75c7\u3002 Clin Genet 81: 110-116 (2012)<\/p>\n\n\n\n<p>Dufke A, Singer S, Borell-Kost S, Stotter M, Pflum DA, et al: De novo \u7ed3\u6784\u67d3\u8272\u4f53\u5931\u8861: 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