{"id":46504,"date":"2021-10-15T10:27:54","date_gmt":"2021-10-15T01:27:54","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/"},"modified":"2025-08-11T14:30:44","modified_gmt":"2025-08-11T05:30:44","slug":"7q21-3-q-31-1-duplication","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/?lang=zh-hans","title":{"rendered":"\u7eaf\u7cb9\u7684\u95f4\u8d28\u60277q21.3-q 31.1\u91cd\u590d: \u7f55\u89c1\u7684\u5206\u8282\u6027\u57fa\u56e0\u7ec4\u975e\u6574\u500d\u4f53: \u75c5\u4f8b\u62a5\u544a\u548c\u8fdc\u4f4d\u53ca\u7c7b\u4f3c\u7684\u5206\u8282\u76f8\u5173\u7684\u75c5\u4f8b\u56de\u987e"},"content":{"rendered":"\n<h2 class=\"wp-block-heading hidden-heading\"><\/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<p>Alessandra\u30fbDi\u30fbNola<sup>1<\/sup>\u3001 Germana\u30fbLena<sup>1<\/sup>\u3001 Andrea\u30fbJune<sup>1<\/sup>\u3001 Alessia\u30fbDi\u30fbMari<sup>2<\/sup>\u3001 Pierluigi\u30fbSmilari<sup>3<\/sup>\u3001 Carmelo\u30fbMinardi<sup>4<\/sup>\u3001 Piero\u30fbPavone<sup>3<\/sup><\/p>\n\n\n\n<p><sup>1<\/sup>\u5361\u5854\u5c3c\u4e9a\u5927\u5b66\u3001\u610f\u5927\u5229\u3001\u5361\u5854\u5c3c\u4e9a\u5927\u5b66\u3001\u513f\u79d1\u3001\u7814\u7a76\u751f\u57f9\u8bad\u9879\u76ee\u3001\u4e34\u5e8a\u30fb\u5b9e\u9a8c\u533b\u5b66\u90e8<br><sup>2<\/sup>\u5361\u5854\u5c3c\u4e9a\u5927\u5b66\u3001\u610f\u5927\u5229\u3001\u5361\u5854\u5c3c\u4e9a\u5927\u5b66\u653e\u5c04\u5b66\u7cfb\u3001\u7814\u7a76\u751f\u57f9\u517b\u9879\u76ee\u3001\u653e\u5c04\u7ebf\u79d1<br><sup>3<\/sup>\u610f\u5927\u5229\u5361\u5854\u5c3c\u4e9a\u5927\u5b66\u5c0f\u513f\u795e\u7ecf\u5185\u79d1<br><sup>4<\/sup>\u610f\u5927\u5229\u3001\u5361\u5854\u5c3c\u4e9a\u5927\u5b66\u75c5\u9662\u300cG. Rodolico\u300d\u9ebb\u9189\u30fb\u96c6\u4e2d\u6cbb\u7597\u90e8<\/p>\n\n\n\n<p>Global\u30fbMed\u30fbGenet<\/p>\n\n\n\n<p><strong>\u8054\u7edc\u5730\u5740<\/strong><br>Alessandra Di Nora\u533b\u751f\u3001\u533b\u9662\u7efc\u5408\u8bca\u6240\u3001SanoMarco\u3001\u5361\u5854\u5c3c\u4e9a\u5927\u5b66\u3001Via S. Sofia 78\u300195123 Catania\u3001\u610f\u5927\u5229<br>(\u7535\u5b50\u90ae\u7bb1: alessandradinora@gmail.com)<\/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<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/?lang=zh-hans\/#%E8%A6%81%E7%BA%A6\" >\u8981\u7ea6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/?lang=zh-hans\/#%E5%BA%8F%E8%A8%80\" >\u5e8f\u8a00<\/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\/7q21-3-q-31-1-duplication\/?lang=zh-hans\/#%E7%97%85%E4%BE%8B%E6%8F%90%E7%A4%BA\" >\u75c5\u4f8b\u63d0\u793a<\/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\/7q21-3-q-31-1-duplication\/?lang=zh-hans\/#%E5%9F%BA%E5%9B%A0%E6%A3%80%E6%9F%A5\" >\u57fa\u56e0\u68c0\u67e5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/?lang=zh-hans\/#%E7%BB%93%E6%9E%9C\" >\u7ed3\u679c<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/?lang=zh-hans\/#%E8%80%83%E5%AF%9F\" >\u8003\u5bdf<\/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\/7q21-3-q-31-1-duplication\/?lang=zh-hans\/#%E7%BB%93%E8%AE%BA\" >\u7ed3\u8bba<\/a><\/li><\/ul><\/nav><\/div>\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A6%81%E7%BA%A6\"><\/span>\u8981\u7ea6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7531\u4e8e\u591a\u79cd\u539f\u56e0\uff0c\u53d1\u80b2\u8fdf\u7f13\u548c\u795e\u7ecf\u529f\u80fd\u969c\u788d\u7684\u513f\u7ae5\u96be\u4ee5\u8bca\u65ad\u3002\u4ece\u8fc7\u53bb10\u5e74\u95f4\uff0c\u9635\u5217\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4\uff08CGH\uff09\u7684\u4f7f\u7528\uff0c\u4e3a\u83b7\u5f97\u590d\u6742\u8868\u578b\u7684\u8bca\u65ad\u505a\u51fa\u4e86\u91cd\u5927\u8d21\u732e\u3002 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">&nbsp;7\u53f7\u67d3\u8272\u4f53\uff0c\u5728\u67d3\u8272\u4f53\u5f02\u5e38\u3001\u518d\u914d\u5217\u3001\u4ee5\u53ca\u4e34\u5e8a\u75c7\u72b6\u5728\u5185\u7684\u7f3a\u5931\u548c\u9891\u7e41\u76f8\u5173<\/a>\uff0c\u5728\u533b\u5b66\u9057\u4f20\u5b66\u4e2d\u5f88\u6709\u610f\u4e49\u3002 \u5728\u672c\u6587\u4e2d\uff0c\u62a5\u544a\u4e86\u4e00\u4e2a3\u5c81\u7684\u7537\u5b69\uff0c\u4ed6\u6709\u4e25\u91cd\u7684\u795e\u7ecf\u53d1\u80b2\u8fdf\u7f13\u3001\u5934\u76d6\u989c\u9762\u5f02\u6027\u548c\u80ba\u52a8\u8109\u72ed\u7a84\u3002 \u8be5\u9635\u5217CGH\u5206\u6790\uff0c\u663e\u793a7\u53f7\u67d3\u8272\u4f53\u4e0a\u6709\u4e00\u4e2a14.4 Mb\uff087q21.3-7q31.1\uff09\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u3002\u901a\u8fc7\u56de\u987e\u8fc4\u4eca\u4e3a\u6b62\u7684\u6587\u732e\uff0c\u4f5c\u8005\u9996\u6b21\u62a5\u544a\u4e86\u4e0e\u8fd9\u79cd\u4ee5\u524d\u672a\u62a5\u544a\u7684\uff0c\u518d\u914d\u5217\u6709\u5173\u7684\u795e\u7ecf\u5b66\u7684\u7578\u5f62\u3002<\/p>\n\n\n\n<p><strong>\u5173\u952e\u8bcd<\/strong><br> 7q21.3-q31.1\u3001\u76f4\u5217CGH\u3001\u53d1\u80b2\u8fdf\u7f13\uff0c\u9762\u90e8\u7279\u5f81\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a><\/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%BA%8F%E8%A8%80\"><\/span>\u5e8f\u8a00<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u957f\u81c2(q)\u91cd\u590d<\/a>\u7684\u4e2a\u4f53\u5f88\u5c11\u62a5\u544a\u3002\u5b64\u7acb\u7684 \u201c\u7eaf\u7cb9\u7684 \u201c7q\u578b\uff0c\u4e0e\u957f\u81c2\u5168\u4f53\u3001\u6216\u67d3\u8272\u4f53\u7247\u6bb5\u7684\u95f4\u8d28\u90e8\u5206\u3001\u8fd1\u4f4d\u90e8\u3001\u8fdc\u4f4d\u90e8\u76f8\u5173\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>\u8fdb\u884c\u5206\u7c7b\u3002<sup><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/#reference01\">1<\/a>,<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/#reference02\">2<\/a>,<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/#reference18\">18<\/a><\/sup>&nbsp;Novales<sup><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/#reference14\">14<\/a><\/sup>\u30017q\u67d3\u8272\u4f53\u7684\u7247\u6bb5\u533a\u5206\u53d7\u5f71\u54cd\u7684\u4e2a\u4f53\uff0c\u5e76\u83b7\u5f97\u4ee5\u4e0b\u7ed3\u679c\u3002\u4ece7q22\u52307q31\u7684\u95f4\u8d28\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u7684\u60a3\u8005\u3001\u5177\u6709\u524d\u989d\u9686\u8d77\u3001\u957f\u776b\u6bdb\u3001\u72ed\u7a84\u7684\u816d\u88c2\u3001\u7709\u6bdb\u3001\u591a\u6bdb\u3001\u5c0f\u9f3b\u5b50\u3001\u957f\u4e0a\u5507\u3001\u773c\u75c5\u7b49\u989c\u9762\u7279\u5f81\u3001\u4ee5\u53ca\u9aa8\u9abc\u5f02\u5e38\u3001\u816d\u88c2\u548c\u8fc7\u65e9\u6b7b\u4ea1\u30027q31\u52307qter\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u8005\u7684\u91cd\u590d\u663e\u793a\u53d1\u80b2\u8fdf\u7f13\uff0c\u9762\u90e8\u7279\u5f81\u5305\u62ec\u5927\u7684fontanel\uff0c\u72ed\u7a84\u7684\u816d\u88c2\u3001\u591a\u6bdb\u3001\u5c0f\u9f3b\u5b50\u3001\u816d\u88c2\u3001\u5c0f\u989a\u75c7\u3001\u4f4e\u4f4d\u7f6e\u7684\u7578\u5f62\u8033\u6735\u3001\u751a\u81f3\uff0c\u6709\u9aa8\u9abc\u5f02\u5e38\u548c\u65e9\u671f\u6b7b\u4ea1\u7684\u8bb0\u5f55\u30027q32\u52307ter\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u8005\uff0c\u4f1a\u6709\u53d1\u80b2\u8fdf\u7f13\u3001\u5c0f\u9f3b\u5b50\u3001\u4f4e\u4f4d\u7f6e\u7684\u7578\u5f62\u8033\u7684\u7279\u5f81\u3001\u5c0f\u989a\u75c7\u816d\u88c2\u3001\u9aa8\u9abc\u5f02\u5e38\u3001\u795e\u7ecf\u75c7\u72b6\u3001\u65e9\u671f\u6b7b\u4ea1\u3002<\/p>\n\n\n\n<p>\u672c\u8bba\u6587\uff0c\u62a5\u544a\u4e86\u4e00\u540d3\u5c81\u7537\u5b69\uff0c\u51767\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u4ece7q21.3\u5230q31.1\u8de8\u8d8a14.4Mb\u7eaf\u7cb9\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u90e8\u5206\u91cd\u590d<\/a>\u3002\u6211\u4eec\u62a5\u544a\u4e86\u5728\u8be5\u75c5\u4f8b\u4e2d\u89c2\u5bdf\u5230\u7684\u4e34\u5e8a\u8868\u73b0\uff0c\u5e76\u5c06\u5176\u4e0e\u60a3\u6709\u8fdc\u4f4d\u90e8\u76f8\u5173\u7684\u513f\u7ae5\u7684\u4e34\u5e8a\u7279\u5f81\u4f5c\u6bd4\u8f83\uff0c\u548c\u60a3\u6709\u95f4\u8d28\u60277\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u76f8\u5173\u7684\u513f\u7ae5\u7684\u4e34\u5e8a\u7279\u5f81\u8fdb\u884c\u6bd4\u8f83\u3002\u901a\u8fc7\u6bd4\u8f83\uff0c\u76ee\u6807\u662f\u63ed\u793a\u5404\u90e8\u5206\u7279\u5f02\u7684\u4e34\u5e8a\u8868\u73b0\u7684\u53ef\u80fd\u6027\u3002<\/p>\n<\/div><\/div>\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<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%8F%90%E7%A4%BA\"><\/span>\u75c5\u4f8b\u63d0\u793a<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8fd9\u4e2a3\u5c81\u7684\u7537\u6027\u60a3\u8005\u662f\u5065\u5eb7\u7684\u3001\u662f\u6ca1\u6709\u8840\u7f18\u5173\u7cfb\u7684\u610f\u5927\u5229\u4eba\u7236\u6bcd\u7684\u7b2c3\u4e2a\u5b69\u5b50\u3002\u4ed6\u76842\u4e2a\u5144\u5f1f\u59d0\u59b9\uff08\u4e00\u4e2a5\u5c81\u7684\u59d0\u59d0\u548c\u4e00\u4e2a7\u5c81\u7684\u54e5\u54e5\uff09\u90fd\u5f88\u5065\u5eb7\uff0c\u6ca1\u6709\u5bb6\u65cf<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u9057\u4f20\u6027\u75be\u75c5<\/a>\u53f2\u3002\u53d7\u5b55\u65f6\uff0c\u6bcd\u4eb2\u662f32\u5c81\uff0c\u7236\u4eb2\u662f35\u5c81\u3002\u6bcd\u4eb2\u5426\u8ba4\u5728\u6000\u5b55\u671f\u95f4\u6709\u8fc7\u4efb\u4f55\u611f\u67d3\uff0c\u800c\u4e14\u5728\u6000\u5b55\u671f\u95f4\u4ece\u672a\u62bd\u8fc7\u70df\u6216\u670d\u7528\u4efb\u4f55\u836f\u7269\u3002\u5bab\u5185\u8d85\u58f0\u68c0\u67e5\u663e\u793a\uff0c7\u4e2a\u6708\u65f6\u51fa\u73b0\u4e86\u53d1\u80b2\u6027\u72ed\u7a84\uff0c\u6bcd\u4eb2\u6ce8\u610f\u5230\u80ce\u513f\u6d3b\u52a8\u51cf\u5c11\u3002\u5b69\u5b50\u5728\u598a\u5a2039\u5468\u65f6\u56e0\u9aa8\u76c6\u4f4d\u7f6e\u95ee\u9898\u800c\u88ab\u5256\u8179\u4ea7\u3002\u51fa\u751f\u4f53\u91cd\u4e3a2,350\u514b\uff08\u7b2c3\u767e\u5206\u4f4d\uff09\uff0c\u8eab\u957f48\u5398\u7c73\uff08\u7b2c10\u767e\u5206\u4f4d\uff09\uff0c\u6795\u989d\u5468\u957f(OFC)33\u5398\u7c73\uff08\u7b2c3\u767e\u5206\u4f4d\uff09\u3002\u5728\u51fa\u751f\u540e\u7684\u7b2c2\u5929\uff0c\u5b69\u5b50\u51fa\u73b0\u4e86\u547c\u5438\u7a98\u8feb\uff0c\u88ab\u9001\u5165\u610f\u5927\u5229\u5361\u5854\u5c3c\u4e9a\u5927\u5b66\u513f\u79d1\u8bca\u6240\u7684\u65b0\u751f\u513f\u91cd\u75c7\u76d1\u62a4\u5ba4\u8fdb\u884c\u6cbb\u7597\u548c\u68c0\u67e5\u3002   <br>\u5934\u90e8\u8d85\u58f0\u68c0\u67e5\u663e\u793a\u8111\u5ba4\u5468\u56f4\u767d\u8d28\u6709\u8f7b\u5ea6\u4f4e\u5bc6\u5ea6\u3002\u5fc3\u810f\u8d85\u58f0\u6ce2\u663e\u793a\u5fc3\u623f\u95f4\u9694\u7f3a\u635f\u4f34\u6709\u80ba\u52a8\u8109\u72ed\u7a84\u3002\u5728\u4ea7\u540e\u7b2c10\u5929\uff0c\u60a3\u8005\u51fa\u9662\u65f6\u60c5\u51b5\u826f\u597d\uff0c\u6ca1\u6709\u53ca\u65f6\u8fdb\u884c\u5fc3\u810f\u5e72\u9884\u7684\u8ff9\u8c61\u3002\u5728\u6700\u521d\u76841\u4e2a\u6708\u91cc\uff0c\u60a3\u8005\u7684\u4e34\u5e8a\u8868\u73b0\u4e3b\u8981\u662f\u8f7b\u5fae\u7684\u9762\u90e8\u7279\u5f81\u548c\u53d1\u80b2\u91cc\u7a0b\u7684\u5ef6\u8fdf\uff0c\u7279\u522b\u662f\u5728\u808c\u5f20\u529b\u4f4e\u4e0b\u65b9\u9762\u3002\u5728\u5b69\u5b502.5\u5c81\u65f6\uff0c\u7531\u4e8e\u53d1\u80b2\u8fdf\u7f13\u548c\u9885\u9762\u7578\u5f62\uff0c\u4ed6\u88ab\u9001\u5165\u610f\u5927\u5229\u5361\u5854\u5c3c\u4e9a\u5927\u5b66\u513f\u79d1\u7cfb\u8fdb\u884c\u68c0\u67e5\u3002\u5728\u8fd9\u4e2a\u5e74\u9f84\u6bb5\uff0c\u5b69\u5b50\u7684\u4f53\u91cd\u4e3a12\u516c\u65a4\uff08\u7b2c10\u767e\u5206\u4f4d\uff09\uff0c\u8eab\u957f88\u5398\u7c73\uff08\u7b2c10\u767e\u5206\u4f4d\uff09\uff0cOFC47\u5398\u7c73\uff08\u7b2c3\u767e\u5206\u4f4d\uff09\u3002\u6839\u636e \u300c\u5f62\u6001\u5b66\u8981\u7d20\uff1a\u6807\u51c6\u672f\u8bedAm J Med Genet 2009, 149A (1): 1-127\u300d\uff0c\u8be5\u513f\u7ae5\u6709\u5c0f\u5934\u7578\u5f62\u3001\u67cf\u6cb9\u8111\u75c5\u3001\u7a81\u51fa\u7684\u524d\u989d\u3001\u5185\u4fa7\u5243\u6bdb\u7684\u5f27\u5f62\u7709\u6bdb\u3001\u5185\u4fa7\u4e0a\u89d2\u8936\u76b1\u3001\u4e0b\u7ffb\u7684\u773c\u7751\u88c2\u3001\u5e73\u9f3b\u6881\u3001\u5706\u9f3b\u5c16\u548c\u524d\u503e\u7684\u9f3b\u5b54\u3001\u5e73\u6ee4\u955c\u3001\u9885\u9762\u7279\u5f81\u5305\u62ec\u8584\u5634\u5507\u3001\u56de\u8f6c\u8f74\u4f4e\u5d4c\u7684\u8033\u6735\u3001\u5f88\u7ec6\u7684\u5934\u53d1\u3002<br>\u808c\u8089\u5448\u4f4e\u7d27\u5f20\u6027\uff0c\u76ae\u4e0b\u7ec4\u7ec7\u4e0d\u826f\u3002\u60a3\u8005\u8868\u73b0\u4e3a\u8e1d\u5173\u8282\u74e3\u819c\u72ed\u7a84\uff0c\u819d\u5173\u8282\u631b\u7f29\uff0c\u9f99\u9aa8\u80f8\uff0c\u80a9\u80db\u7ffc\uff0c\u8155\u5173\u8282\u677e\u5f1b\u548c\u8179\u76f4\u808c\u75c9\u631b\u3002 \u53d1\u80b2\u8fdf\u7f13\uff0c\u8a00\u8bed\u975e\u5e38\u91cd\u3002\u6b65\u6001\u4e0d\u7a33\u5b9a\u3002\u9acc\u9aa8\u9aa8\u6027\u574f\u6b7b\u53cd\u5c04\u6d88\u5931\u4e0d\u5408\u683c\u3002\u6536\u7f29\u671f\u5c0f\u9f202\/6Levine\u7a81\u51fa\uff0c\u8d85\u58f0\u5fc3\u52a8\u56fe\u8bc1\u5b9e\u5b58\u5728\u5fc3\u623f\u95f4\u9694\u7f3a\u635f\u5e76\u4f34\u6709\u80ba\u52a8\u8109\u74e3\u72ed\u7a84\u3002\u5e38\u89c4\u5b9e\u9a8c\u5ba4\u5206\u6790\u7535\u89e3\u8d28\u3001\u8840\u6d46\u548c\u5c3f\u6db2\u6c28\u57fa\u9178\u3001\u7532\u72b6\u817a\u6807\u5fd7\u7269\u3001\u6709\u673a\u9178\u3001\u8840\u6d46\u560c\u5464\u548c\u8f6c\u94c1\u86cb\u767d\u7b49\u7535\u70b9\u7535\u529b\u7535\u6cf3\u663e\u793a\u6709\u5de6\u4fa7\u505c\u7559\u777e\u4e38\uff0c\u603b\u80c6\u56fa\u9187\u5728\u6b63\u5e38\u8303\u56f4\u5185\u3002\u6e05\u9192\u548c\u7761\u7720\u65f6\u7684\u8111\u7535\u56fe\u662f\u6b63\u5e38\u7684\u3002\u7528\u6269\u6563\u5f3a\u8c03\u6210\u50cf\u5e8f\u5217\u7684\u8111\u78c1\u5171\u632f\u6210\u50cf\u6cd5\uff08MRI\uff09\u663e\u793a\uff0c\u8111\u819c\u4e0b\u548c\u8111\u819c\u4e0a\u7ed3\u6784\u548c\u8111\u5ba4\u7684\u4f53\u79ef\u548c\u89e3\u5256\u7ed3\u6784\u90fd\u5f88\u89c4\u5219\u3002\u810a\u67f1MRI\u68c0\u67e5\u53d1\u73b0\uff0cS5\u540e\u5f13\u90e8\u6709\u88c2\u9699\uff0cS3\u81f3S5\u7684\u9ab6\u9aa8\u8fdc\u7aef\u6709\u8102\u80aa\u80bf\u75c7\uff0c\u53f3\u4fa7S2\u6709\u4e00\u4e2aTarlov\u578b\u7684\u5c0f\u5305\u819c\u56ca\u80bf(\u89c1<strong>\u56fe1\u30012<\/strong>)\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<p><strong>\u56fe1<\/strong> \u810a\u67f1\u78c1\u5171\u632f\u56fe\u50cf\u663e\u793aS5\u540e\u5f13\u90e8\u6709\u88c2\u9699\uff0c\u9ab6\u9aa8\u8fdc\u7aef\u6709\u8102\u80aa\u7624\u75c5\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"800\" height=\"508\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/7q21.3-q-31-a-1.jpg\" alt=\"\" class=\"wp-image-18191\"\/><\/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>\u56fe2<\/strong> \u65cb\u78c1\u5171\u632f\u6210\u50cf\u663e\u793aS2\u5fc3\u5c16\u90e8\u5468\u56f4\u56ca\u80bf\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"737\" height=\"800\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/7q21.3-q-31-b-1.jpg\" alt=\"\" class=\"wp-image-18193\"\/><\/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=\"%E5%9F%BA%E5%9B%A0%E6%A3%80%E6%9F%A5\"><\/span>\u57fa\u56e0\u68c0\u67e5<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6839\u636e\u4eba\u7c7b\u7ec6\u80de\u9057\u4f20\u5b66\u547d\u540d\u56fd\u9645\u7cfb\u7edf<sup><a href=\"#reference11\">11<\/a><\/sup> \uff0c\u5728\u5bf9\u513f\u7ae5\u53ca\u5176\u7236\u6bcd\u8fdb\u884c\u6dcb\u5df4\u7ec6\u80de\u57f9\u517b\u540e\u8fdb\u884c\u4e86\u9ad8\u7cbe\u5ea6\u7684\u6838\u578b\u5206\u6790\uff0c\u5e73\u5747\u5206\u8fa8\u7387\u4e3a550\u5e26\uff0c\u5e76\u4f7f\u7528\u7ec6\u80de\u5206\u914d\u7684\u63a2\u9488\u8fdb\u884c\u5206\u5b50\u7ec6\u80de\u9057\u4f20\u5b66\u7814\u7a76\u3002<br>\u4f7f\u7528Cytofure ISCA 8\u00d760K v.2(\u86cb\u767d\u8d28O\u2010GicNacTransferase,OGT)\u5bf9\u513f\u7ae5\u53ca\u5176\u7236\u6bcd\u7684\u5916\u5468\u8840\u6837\u672c\u8fdb\u884c\u9635\u5217\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4(CGH)(\u4eba\u7c7bDNA,Promega)\u5206\u6790\u3002\u5e76\u8fdb\u884c\u4e86Medongenetic DNA\u3002\u8f6f\u4ef6\u5206\u6790\u662f\u7528Cytofure Analysis Software\uff08Genome Assembly, University of California, Santa Cruz19\uff09\u8fdb\u884c\u7684\u3002\u8d28\u91cf\u8bc4\u5206\uff08Derivative Log Ratio Spread, DLRS\uff09&lt;0.25\u3002\u5206\u6790\u53c2\u6570\uff1a4\u4e2a\u8fde\u7eed\u63a2\u9488\u3002\u5206\u8fa8\u7387\uff1a50~100 Kb\u3002\u8fdb\u884c\u4e86RASopathies\u7684\u65b0\u4e00\u4ee3\u6d4b\u5e8f\uff08NGS\uff09\u9762\u677f\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=\"%E7%BB%93%E6%9E%9C\"><\/span>\u7ed3\u679c<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5206\u6790\u663e\u793a\uff0c\u5b69\u5b50<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u67d3\u8272\u4f537\u7684\u957f\u81c2\u7684\u67d3\u8272\u4f53\u5185\u90e8\u5206\u91cd\u590d<\/a>\uff0c\u6838\u578b\u4e3a46,XY\uff0c\u8de8\u5ea6\u4e3a14.4 Mb(7q21.3-q31.1):arr[hg 18]\uff08\u4ee5\u4e0b\u7b80\u79f0<strong>\u56fe3A,3B<\/strong>\uff09\u3002\u91cd\u590d\u7684\u4e2d\u5fc3\u7c92\u8fb9\u7f18\uff0c\u662f\u753195054968pb\u5904\u7684\u6b63\u5e38\u4f4e\u805a\u7269\u548c109476740pb\u5904\u7684\u91cd\u590d\u4f4e\u805a\u7269\u6784\u6210\u3002\u7531109557905pb\u5904\u7684\u6b63\u5e38\u4f4e\u805a\u7269\u548c109476740pb\u5904\u7684\u91cd\u590d\u4f4e\u805a\u7269\u6784\u6210\u7684\u7aef\u7c92\u8fb9\u7f18\uff08<strong>\u56fe4<\/strong>\uff09\u3002RASopathies NGS\u5206\u6790\u663e\u793a\u6ca1\u6709\u53d8\u5316\u3002\u7236\u6bcd\u7684\u6838\u578b\u548c\u9635\u5217CGH\u90fd\u6b63\u5e38\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<p><strong>\u56fe3<\/strong> (A,B) <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u67d3\u8272\u4f537\u53f7\u7684\u957f\u81c2\u4e0a\u67d3\u8272\u4f53\u5185\u90e8\u5206\u91cd\u590d<\/a>\u7684\u513f\u7ae5\u7684\u6838\u578b\u56fe<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"349\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/7q21.3-q-31-c-1024x349.jpg\" alt=\"\" class=\"wp-image-18185\"\/><\/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>\u56fe4<\/strong> \u4ece\u5305\u542b\u663e\u793a\u518d\u6784\u6210\u9886\u57df\u57fa\u56e0OMIM\u4fee\u6539\u56fe\u50cf<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"800\" height=\"478\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/7q21.3-q-31-d.png\" alt=\"\" class=\"wp-image-18187\"\/><\/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<h3 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><\/h3>\n\n\n\n<p>\u8be5\u60a3\u513f\u8868\u73b0\u51fa\u8f7b\u5ea6\u975e\u7279\u5f02\u7684\u9885\u9762\u989c\u9762\u7279\u5f81\uff0c\u5305\u62ec\u5c0f\u5934\u7578\u5f62\u3001\u8f7b\u5ea6\u53d1\u80b2\u8fdf\u7f13\u3001\u5fc3\u810f\u548c\u9aa8\u9abc\u75be\u75c5\u7b49\u590d\u6742\u7684\u5148\u5929\u6027\u7578\u5f62\u3002\u751f\u6b96\u5668\u3001\u624b\u548c\u8179\u90e8\u4e5f\u53d7\u5230\u5f71\u54cd\u3002\u5148\u5929\u6027\u5fc3\u810f\u75c5\u5305\u62ec\u5fc3\u623f\u9694\u7f3a\u635f\u5e76\u4f34\u6709\u80ba\u52a8\u8109\u74e3\u72ed\u7a84\uff0c\u9aa8\u9abc\u5f02\u5e38\u663e\u793aS5\u540e\u5f13\u88c2\uff0cS3\uff5eS5\u8fdc\u7aef\u9ab6\u9aa8\u8102\u80aa\u7624\uff0c\u53f3S2\u5fc3\u5305\u56ca\u80bfTarlov\u578b\uff1b\u8fd8\u5b58\u5728\u5173\u8282\u631b\u7f29\u548c\u819d\u5173\u8282\u5728\u8e1d\u5173\u8282\u74e3\u72ed\u7a84\u7684\u60c5\u51b5\u3002\u6b64\u5916\uff0c\u8fd8\u5b58\u5728\u8179\u76f4\u808c\u75c9\u631b\u3001\u5de6\u4fa7\u777e\u4e38\u672a\u4e0b\u964d\u548c\u8155\u5173\u8282\u677e\u5f1b\u3002\u9635\u5217CGH\u663e\u793a\u6709\u51e0\u4e2aOMIM\u548c\u6709RefSeq\u57fa\u56e0\u7684\u67d3\u8272\u4f53\uff0c\u57287q21.q31.1\u53f7\u67d3\u8272\u4f53\u4e0a\u6709\u4e00\u4e2a14.4Mb\u7684\u5927\u57fa\u56e0\u7ec4<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\uff0c\u91cd\u7ec4\u7684\u533a\u57df\u5305\u542b230\u4e2a\u4ee5\u4e0a\u7684\u57fa\u56e0\uff08<strong>\u56fe4<\/strong>\uff09\u3002\u6839\u636eSFARI\u57fa\u56e0\u6570\u636e\u5e93\uff0c\u6709\u51e0\u4e2a\u57fa\u56e0\uff0c\u5982ACTL6B\u3001FOXP2\u3001PONI\u548cKMT2E\uff0c\u53c2\u4e0e\u4e86\u7a81\u89e6\u53ef\u5851\u6027\u548c\u81ea\u95ed\u75c7\u4fe1\u53f7\u673a\u5236\u4ee5\u53ca\u5176\u4ed6\u7ed3\u6784\u5f02\u5e38\uff0c\u5bfc\u81f4\u5f71\u54cd\u5927\u8111\u548c\u5176\u4ed6\u5668\u5b98\u7684\u5148\u5929\u6027\u75be\u75c5\uff08<strong>\u56fe5<\/strong>\uff09\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>\u56fe5<\/strong> \u663e\u793a\u4e86\u4e0e\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u6709\u5173\u7684\u57fa\u56e0SFARI\u57fa\u56e0\u6539\u53d8\u540e\u7684\u753b\u50cf\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"800\" height=\"379\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/7q21.3-q-31-e.png\" alt=\"\" class=\"wp-image-18189\"\/><\/figure>\n<\/div><\/div>\n\n\n\n<p>\u67d3\u8272\u4f537q\u5bb9\u6613\u53d7\u5230\u4e0d\u540c\u7ed3\u6784\u91cd\u7ec4\u7684\u5f71\u54cd\u3002\u8bd5\u56fe\u6839\u636e\u6d78\u6da6\u7684\u57fa\u8d28\u3001\u8fd1\u7aef\u6216\u8fdc\u7aef\u8282\u6bb5\u6765\u5f3a\u8c03\u7279\u5b9a\u7684\u4e34\u5e8a\u75c7\u72b6\uff0c\u4f46\u8fd8\u6ca1\u6709\u660e\u786e\u7684\u5b9a\u4e49\u3002Alfonsi\u7b49\u4eba\uff0c\u5c06\u4e0eq21.1-q22.3\u9886\u57df\u6709\u5173\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u90e8\u5206\u67d3\u8272\u4f537q\u91cd\u590d<\/a>\u7684\u75c5\u4f8b\u4e0e\u4ece\u6587\u732e\u4e2d\u62bd\u53d6\u76846\u540d\u5177\u6709\u7c7b\u4f3c7q\u91cd\u7ec4\u7684\u60a3\u8005\u7684\u4e34\u5e8a\u7279\u5f81\u8fdb\u884c\u6bd4\u8f83\u3002\u8fd9\u4e9b\u4f5c\u8005\u53d1\u73b0\uff0c\u5728\u6240\u6709\u7684\u75c5\u4f8b\u4e2d\u90fd\u5b58\u5728\u667a\u529b\u5ef6\u8fdf\u548c\u7578\u5f62\u4f4e\u4f4d\u8033\u6735\uff0c\u5305\u62ec\u4ed6\u4eec\u81ea\u5df1\u7684\u75c5\u4f8b\uff0c\u57286\u4e2a\u75c5\u4f8b\u4e2d\u5b58\u5728\u773c\u775b\u659c\u89c6\u548c\u524d\u989d\u7a81\u8d77\u7279\u5f81\uff0c\u57285\u4e2a\u75c5\u4f8b\u4e2d\u5b58\u5728\u9aa8\u9abc\u5f02\u5e38\u3002\u5176\u4e2d3\u540d\u60a3\u8005\u8868\u73b0\u51fa\u751f\u6b96\u5668\u7f3a\u9677\u3001\u5de8\u5934\u7578\u5f62\u548c\u4e00\u4e9b\u7c7b\u4f3c\u7684\u9885\u9762\u7279\u5f81\uff0c\u5982\u9ad8\u773c\u7751\u75c7\u3001\u7fd8\u9f3b\u3001\u5c0f\u989a\u540e\u75c7\u3001\u53e3\u816d\u88c2\u548c\u9ad8\u62f1\u816d\u3002<sup><a href=\"#reference01\">1<\/a><\/sup> \u4f5c\u8005\u5f97\u51fa\u7684\u7ed3\u8bba\u662f\uff0c\u5728\u7eaf7q\u67d3\u8272\u4f53\u8fd1\u7aef\u7247\u6bb5\u7684\u60a3\u8005\u4e2d\uff0c\u6ca1\u6709\u51fa\u73b0\u7279\u5b9a\u7684\u8bca\u65ad\u6027\u4e34\u5e8a\u7279\u5f81\u3002<sup><a href=\"#reference01\">1<\/a><\/sup> \u672c\u7814\u7a76\u5206\u6790\u4e86\u672c\u6587\u732e\u4e2d\u62a5\u9053\u76848\u4f8b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">7q\u91cd\u590d<\/a>\u95f4\u8d28\u6027\uff087q22-7q32\uff09\u6bb5\u7684\u4e34\u5e8a\u6570\u636e\uff0c\u5305\u62ec\u672c\u75c5\u4f8b\uff0c\u4ee5\u8bc4\u4f30\u4e34\u5e8a\u7684\u76f8\u4f3c\u6027\u6216\u5dee\u5f02\u3002\u5728\u95f4\u8d28\u7ec4\u4e2d\uff0c\u67093\u540d\u7537\u6027\u548c4\u540d\u5973\u6027\u53d7\u5230\u5f71\u54cd\uff0c\u6ca1\u6709\u89c2\u5bdf\u5230\u6027\u522b\u53d1\u75c5\u7387\u7684\u60c5\u51b5\u3002 \u6240\u6709\u75c5\u4f8b\u90fd\u6709\u53d1\u80b2\u8fdf\u7f13\u548c\u8f7b\u5ea6\u975e\u7279\u5f02\u6027\u9762\u90e8\u7279\u5f81\u7684\u62a5\u544a\u3002\u7279\u522b\u662f\u6ce8\u610f\u5230\u4e00\u4e9b\u9762\u90e8\u7279\u5f81\uff1a7\u4e2a\u75c5\u4f8b\u4e2d\u76846\u4e2a\u62a5\u544a\u4e86\u524d\u989d\u9686\u8d77\u548c\u4e0a\u7751\u4e0b\u5782\uff0c4\u4e2a\u75c5\u4f8b\u4f4e\u8033\u4f4d\uff0c2\u4e2a\u75c5\u4f8b\u51fa\u73b0\u4e86\u5c0f\u989a\u540e\u75c7\u30027\u4e2a\u75c5\u4f8b\u4e2d\u67096\u4e2a\u51fa\u73b0\u4f4e\u8840\u538b\uff0c\u53d1\u80b2\u8fdf\u7f13\uff0c5\u4e2a\u75c5\u4f8b\u51fa\u73b0\u773c\u5185\u659c\u89c6\u30023\u4e2a\u5b69\u5b50\u6709\u5c0f\u5934\u75c7\uff0c\u53ea\u6709\u672c\u75c5\u4f8b\u62a5\u544a\u4e86\u5fc3\u810f\u3001\u9aa8\u9abc\u548c\u751f\u6b96\u5668\u5b98\u7684\u5f02\u5e38\u51fa\u6c57\uff0c\u800c\u5176\u4ed6\u5b69\u5b50\u6ca1\u6709\u3002\u591a\u6bdb\u75c7\u548c\u9acb\u5173\u8282\u8131\u4f4d\u67091\u4f8b\uff0c\u8111\u7578\u5f62\u548c\u80be\u53d1\u80b2\u4e0d\u826f\u53ea\u67091\u4f8b\u3002<sup><a href=\"#reference02\">2<\/a>, <a href=\"#reference04\">4<\/a>, <a href=\"#reference07\">7<\/a>, <a href=\"#reference15\">15<\/a>, <a href=\"#reference17\">17<\/a>, <a href=\"#reference18\">18<\/a>, <a href=\"#reference21\">21<\/a><\/sup> \u5206\u6790\u8fd9\u4e9b\u7ed3\u679c\uff0c\u5f88\u660e\u663e\uff0c\u9664\u4e86\u667a\u529b\u5ef6\u8fdf\u548c\u8f7b\u5ea6\u9885\u9762\u5ef6\u8fdf\uff0c\u6ca1\u6709\u63d0\u51fa\u5177\u4f53\u7684\u4e34\u5e8a\u75c7\u72b6\u6765\u8868\u660e\u660e\u786e\u7684\u8bca\u65ad\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<section class=\"note_table\">\n<p><strong>\u88681<\/strong> \u7eaf\u7cb9\u76847q\u7684\u8fdc\u4f4d\u91cd\u590d<sup><a href=\"#reference01\">1<\/a>, <a href=\"#reference03\">3<\/a>, <a href=\"#reference06\">6-10<\/a><\/sup>\u5448\u73b0\u76848\u4f8b\u4e34\u5e8a\u6570\u636e\u4e0e\u5448\u73b0\u7eaf\u7cb9\u76847q\u95f4\u8d28\u91cd\u590d\u7684\u672c\u6848\u4f8b\u8fdb\u884c\u6bd4\u8f83<\/p>\n<div class=\"table-sp-scroll\">\n<figure>\n<table style=\"max-width: 400px;\">\n<colgroup>\n    <col style=\"width:calc(100% \/ 3)\">\n    <col style=\"width:calc(100% \/ 3)\">\n    <col style=\"width:calc(100% \/ 3)\">\n<\/colgroup>\n<thead>\n<tr>\n<th><\/th><th>\u8fdc\u4f4d7q<\/th><th>\u73b0\u5728\u7684\u75c5\u4f8b<\/th><\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td>\u6027\u522b<\/td><td>M\/F: 7\/1<\/td><td>M<\/td>\n<\/tr>\n<tr>\n<td>\u9762\u90e8\u7279\u5f81<\/td><td>8\/8<\/td><td>+<\/td>\n<\/tr>\n<tr>\n<td>\u5927\u5934<\/td><td>5\/8<\/td><td>&#8211;<\/td>\n<\/tr>\n<tr>\n<td>\u53d1\u80b2\u5ef6\u8fdf<\/td><td>8\/8<\/td><td>+<\/td>\n<\/tr>\n<tr>\n<td>\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d<\/td><td>1\/8<\/td><td>&#8211;<\/td>\n<\/tr>\n<tr>\n<td>\u9aa8\u683c\u5f02\u5e38<\/td><td>4\/8<\/td><td>+<\/td>\n<\/tr>\n<tr>\n<td>\u6ccc\u5c3f\u751f\u6b96\u5668\u7578\u5f62<\/td><td>2\/8<\/td><td>+<\/td>\n<\/tr>\n<tr>\n<td>\u5148\u5929\u6027\u5fc3\u75be\u75c5<\/td><td>1\/8<\/td><td>+<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/figure>\n<\/div>\n<\/section>\n\n\n\n<p><\/p>\n<\/div><\/div>\n\n\n\n<p>\u901a\u8fc7\u7814\u7a76\u4e86\u7eaf\u7cb9\u7684\u95f4\u8d28\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">7q\u91cd\u590d<\/a>\u4e0e\u7eaf\u7cb9\u7684\u95f4\u8d28\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">7q\u91cd\u590d<\/a>\u7684\u4e34\u5e8a\u6570\u636e\uff0c\u901a\u8fc7\u6bd4\u8f83\u6587\u732e\u4e2d\u62a5\u9053\u76846\u4e2a\u75c5\u4f8b\u548c\u4eca\u5929\u5728\u513f\u7ae5\u4e2d\u89c2\u5bdf\u5230\u76846\u4e2a\u75c5\u4f8b\uff0c\u5e76\u8fdb\u884c\u8ba8\u8bba(<strong>\u88682<\/strong>)\u3002<sup><a href=\"#reference03\">3<\/a>, <a href=\"#reference06\">6<\/a>, <a href=\"#reference10\">10<\/a>, <a href=\"#reference17\">17<\/a>, <a href=\"#reference20\">20<\/a>, <a href=\"#reference22\">22<\/a><\/sup> \u5206\u6790\u8fd9\u4e9b\u7ed3\u679c\uff0c\u4f3c\u4e4e\u5f88\u6e05\u695a\uff0c\u5728\u76ee\u524d\u4efb\u4f55\u4e00\u7ec4\u8fdc\u7aef\u548c\u95f4\u8d28\u6027\u67d3\u8272\u4f537q\u6d78\u6da6\u7684\u513f\u7ae5\u4e2d\uff0c\u8f7b\u5fae\u7684\u975e\u7279\u5f02\u6027\u9885\u9762\u7279\u5f81\u3001\u667a\u529b\u4f4e\u4e0b\u548c\u8f7b\u5fae\u7684\u9aa8\u9abc\u75c5\u53d8\u9891\u7387\u662f\u6700\u5177\u4ee3\u8868\u6027\u7684\u4e34\u5e8a\u8868\u73b0\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<section class=\"note_table\">\n<p><strong>\u88682<\/strong> \u62a5\u544a\u76846\u4f8b(8\u4f8b\u300111\u4f8b-15\u4f8b)\u4e0e\u672c\u6848\u4f8b\u7eaf\u7cb9\u7684\u95f4\u8d28\u60277q\u91cd\u590d\u7684\u4e34\u5e8a\u6570\u636e<\/p>\n<div class=\"table-sp-scroll\">\n<figure>\n<table>\n<colgroup>\n    <col style=\"width:20%\">\n    <col style=\"width:10%\">\n    <col style=\"width:10%\">\n    <col style=\"width:10%\">\n    <col style=\"width:10%\">\n    <col style=\"width:10%\">\n    <col style=\"width:10%\">\n    <col style=\"width:10%\">\n    <col style=\"width:10%\">\n<\/colgroup>\n<thead>\n<tr>\n<th><\/th><th>Grace\u7b49(1972)<\/th><th>Berger\u7b49(1974)<\/th><th>Selbir\u7b49(1975)<\/th><th>Rome\u7b49(1990)<\/th><th>Megarbane\u7b49(2000)<\/th><th>Weimer\u7b49(2011)<\/th><th>\u73b0\u5b58\u75c5\u4f8b<\/th><th>\u603b\u6570<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td>\u67d3\u8272\u4f537<\/td><td>q22-q32<\/td><td>q21-q31<\/td><td>q22-q31<\/td><td>q22-q31.2<\/td><td>q22-q31.3<\/td><td>q21.1-q31.3<\/td><td>q21.3-q31.1<\/td><td><\/td>\n<\/tr>\n<tr>\n<td>\u6027\u522b<\/td><td>F<\/td><td>M<\/td><td>M<\/td><td>F<\/td><td>F<\/td><td>F<\/td><td>M<\/td><td>3 M\/4 F<\/td>\n<\/tr>\n<tr>\n<th colspan=\"9\">\u9762\u90e8\u7279\u5f81<\/th>\n<\/tr>\n<tr>\n<td>\u524d\u9762boss\u52a0\u5de5<\/td><td>&#8211;<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>6\/7<\/td>\n<\/tr>\n<tr>\n<td>\u4e0a\u988c\u89d2<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>6\/7<\/td>\n<\/tr>\n<tr>\n<td>\u5c0f\u989a\u540e\u75c7<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>+<\/td><td>&#8211;<\/td><td>+<\/td><td>2\/7<\/td>\n<\/tr>\n<tr>\n<td>\u4f4e\u97f3<\/td><td>+<\/td><td>&#8211;<\/td><td>+<\/td><td>&#8211;<\/td><td>+<\/td><td>&#8211;<\/td><td>+<\/td><td>4\/7<\/td>\n<\/tr>\n<tr>\n<td>\u5ef6\u8fdf\u53d1\u5c55<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>7\/7<\/td>\n<\/tr>\n<tr>\n<td>\u5c0f\u8111\u75c7<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>3\/7<\/td>\n<\/tr>\n<tr>\n<td>\u4f4e\u8840\u538b<\/td><td>&#8211;<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>6\/7<\/td>\n<\/tr>\n<tr>\n<td>\u53d1\u80b2\u8fdf\u7f13<\/td><td>+<\/td><td>&#8211;<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>6\/7<\/td>\n<\/tr>\n<tr>\n<td>\u5148\u5929\u6027\u5fc3\u810f\u75c5<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>+<\/td><td>1\/7<\/td>\n<\/tr>\n<tr>\n<td>\u6027\u5668\u7578\u5f62<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>+<\/td><td>1\/7<\/td>\n<\/tr>\n<tr>\n<td>\u9aa8\u683c\u5f02\u5e38<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>&#8211;<\/td><td>+<\/td><td>1\/7<\/td>\n<\/tr>\n<tr>\n<td>\u773c\u90e8\u5f02\u5e38<\/td><td>&#8211;<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>&#8211;<\/td><td>5\/7<\/td>\n<\/tr>\n<tr>\n<td>\u5176\u4ed6\u5f02\u5e38\u60c5\u51b5<\/td><td>&#8211;<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>5\/7<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<figcaption>F \u5973\u6027\u3002M \u7537\u6027\u3002<br>\n\u6ce8\uff1a\u5176\u4ed6\u5f02\u5e38\u60c5\u51b5\uff0c\u5305\u62ec2\u4f8b\uff0814\uff0c15\uff09\u62a5\u544a\u7684\u591a\u6bdb\u75c7\uff0c1\u4f8b8\u62a5\u544a\u7684\u8033\u804b\u548c\u80be\u810f\u53d1\u80b2\u4e0d\u826f\uff0c\u4ee5\u53ca\u672c\u4f8b\u62a5\u544a\u7684\u810a\u67f1\u5f02\u5e38\u3002<\/figcaption>\n<\/figure>\n<\/div>\n<\/section>\n<\/div><\/div>\n\n\n\n<p>\u9664\u4e86\u7eaf\u7cb9\u7684\u5b64\u7acb\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">7q\u67d3\u8272\u4f53\u7684\u91cd\u590d<\/a>\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">7q\u5f02\u5e38<\/a>\uff0c\u53ef\u80fd\u4e0e\u6d89\u53ca\u540c\u4e00\u67d3\u8272\u4f53\u6216\u5176\u4ed6\u67d3\u8272\u4f53\u7684\u91cd\u6392\u8054\u5408\u53d1\u751f\uff0c\u5e76\u53ef\u80fd\u5f15\u8d77\u4e0d\u540c\u7684\u548c\u66f4\u590d\u6742\u7684\u4e34\u5e8a\u8868\u73b0\u3002 Fruhmesser\u7b49\u4eba\u62a5\u544a\u4e86\u4e00\u4f8b7q31.2.2q32.37q22q32\u90e8\u5206\u7684\u5012\u7f6e\uff0c\u5e76\u4f34\u67097q22q32\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u90e8\u5206\u7684\u4e09\u4f53\u7efc\u5408\u75c7<\/a>\u7684\u75c5\u4f8b\u3002<sup><a href=\"#reference15\">15<\/a><\/sup> \u8be5\u60a3\u513f\u8868\u73b0\u4e3a\u53d1\u80b2\u8fdf\u7f13\uff0c\u751f\u957f\u8fdf\u7f13\uff0c\u624b\u90e8\u5f02\u5e38\uff0c\u5148\u5929\u6027\u5fc3\u810f\u75c5\uff0c\u6709\u52a8\u8109\u5bfc\u7ba1\u672a\u95ed\u548c\u5375\u5706\u5b54\u672a\u95ed\u3002<br>\u9885\u9762\u7279\u5f81\u5305\u62ec\u989d\u90e8\u7a81\u51fa\u3001\u773c\u7751\u7565\u5fae\u5411\u4e0b\u7684\u88c2\u7f1d\u3001\u5bbd\u5927\u7684\u9f3b\u6839\u3001\u957f\u671f\u4eb2\u8fd1\u7684\u5c0f\u988c\u7578\u5f62\u548c\u7a81\u51fa\u7684\u8033\u6735\u3002 Pattinige\u7b49\u4eba\u62a5\u544a\u4e86\u4e00\u4e2a\u60a3\u67097q22.-qter\u4e09\u4f53\u7684\u5973\u5b69\uff0c\u517614\u53f7\u67d3\u8272\u4f53\u4e0a\u7684\u9057\u4f20\u7269\u8d28\u635f\u5931\u6781\u5c11\u3002<sup><a href=\"#reference13\">13<\/a><\/sup>\u5b50\u5bab\u751f\u957f\u8fdf\u7f13\u3001\u53d1\u80b2\u8fdf\u7f13\u548c\u8111\u5ba4\u80a5\u5927\u4e0e\u4e0d\u5bf9\u79f0\u7684\u9885\u9762\u7279\u5f81\u3001\u4e09\u89d2\u8138\u5f62\u3001\u9ad8\u989d\u5934\u3001\u9ad8\u9885\u9aa8\u7578\u5f62\u3001\u524d\u989d\u53f6\u75c7\u3001\u5e73\u9f3b\u6881\u3001\u5c0f\u989a\u75c7\u548c\u4f4e\u8033\u4f4d\u7578\u5f62\u3002<sup><a href=\"#reference16\">16<\/a><\/sup>\u4f5c\u8005\u540c\u610f\u6587\u732e\u7684\u89c2\u70b9\uff0c\u5373\u672c\u75c5\u4f8b\u7684\u57fa\u56e0\u578b\u548c\u8868\u578b\u4e4b\u95f4\u6ca1\u6709\u660e\u786e\u7684\u76f8\u5173\u6027\u3002<br>\u8be5\u60a3\u8005\u51fa\u73b0\u4e86\u7531\u80ba\u52a8\u8109\u74e3\u72ed\u7a84\u7ec4\u6210\u7684\u5148\u5929\u6027\u5fc3\u810f\u75c5\uff0c\u8fd9\u79cd\u5f02\u5e38\u60c5\u51b5\u5df2\u88ab\u62a5\u9053\u4e3a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u52aa\u5357\u7efc\u5408\u75c7<\/a>\u7684\u5178\u578b\u75c7\u72b6\u4e4b\u4e00\u3002 \u8be5\u7efc\u5408\u75c7\u4e0e\u6d89\u53caRAS\/MAPK\u9014\u5f84<sup><a href=\"#reference17\">17<\/a><\/sup>\u7684\u6539\u53d8\u6709\u5173\uff0c\u56e0\u4e3a\u5b83\u88ab\u5f52\u5165\u4e00\u7ec4\u88ab\u79f0\u4e3a\u300cRASopathies\u300d\u7684\u75be\u75c5\uff0c\u8fd9\u4e9b\u75be\u75c5\u6709\u4e00\u4e2a\u5171\u540c\u7684RAS\/MAPK\u9014\u5f84\u5931\u8c03\u7684\u7279\u70b9\u3002 \u7531\u4e8e\u76ee\u524d\u513f\u7ae5\u5e38\u89c1\u7684\u4e34\u5e8a\u75c7\u72b6\uff0c\u5305\u62ec\u5fc3\u810f\u7f3a\u9677\uff0c\u6211\u4eec\u7528NGS\u5c0f\u7ec4\u5bf9\u4e3b\u8981\u7684RASopathy\u57fa\u56e0\u8fdb\u884c\u4e86\u6269\u5c55\u9057\u4f20\u7814\u7a76\uff0c\u5728\u8fd9\u4e2a\u75c5\u4f8b\u4e2d\u5f97\u5230\u4e86\u9634\u6027\u7ed3\u679c\u3002\u6b64\u5916\uff0c\u672c\u60a3\u8005\u8868\u73b0\u51fa\u5f71\u54cd\u9aa8\u9abc\u7cfb\u7edf\u7684\u5f02\u5e38\uff0c\u7279\u522b\u662f\u810a\u67f1\u7684S5\u540e\u5f13\u88c2\uff0c\u9ab6\u9ac2\u8102\u80aa\u7624\u548c\u9ab6\u9ac2\u7578\u5f62\u3002\u5f02\u5e38\u60c5\u51b5\uff08\u6700\u540e\u7684\u4e00\u4e2a\uff09\u662fCurrarino\u7efc\u5408\u75c7\uff08CS\uff09\u7684\u4e00\u90e8\u5206\u3002<br>\u4f5c\u4e3a\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9ab6\u9aa8\u53d1\u80b2\u4e0d\u826f\u800c\u719f\u77e5\u7684CS\uff0c\u5176\u7279\u70b9\u662f\u90e8\u5206\u9ab6\u9aa8\u7f3a\u635f\uff0c\u7b2c\u4e00\u9ab6\u690e\u53d7\u635f\uff0c\u9ab6\u9aa8\u524d\u90e8\u80bf\u5757\u548c\u809b\u95e8\u76f4\u80a0\u5f02\u5e38\u5178\u578b\u7684\u4e09\u4e2a\u75c7\u72b6\u3002<sup><a href=\"#reference18\">18<\/a><\/sup> CS\u4ece\u4ec5\u6709\u5c3e\u90e8\u7578\u5f62\u5230\u590d\u6742\u7684\u5668\u5b98\u7cfb\u7edf\u7578\u5f62\uff0c\u53ef\u80fd\u6709\u591a\u79cd\u4e34\u5e8a\u8868\u73b0\u3002\u8be5\u75c5\u4e0eHLXB9\u7684\u4e00\u4e2a\u6709\u5bb3\u53d8\u4f53\u6709\u5173\uff0cHLXB9\u662f\u4e00\u4e2a\u6620\u5c04\u52307q36<sup><a href=\"#reference08\">8<\/a><\/sup>\u67d3\u8272\u4f53\u4e0a\u7684homeobox\u57fa\u56e0\u3002Pavone\u7b49\u4eba\u62a5\u544a\u4e86\u51fa\u73b0\u5c0f\u5934\u7578\u5f62\u3001\u76ae\u8d28\u589e\u539a\u7f3a\u4e4f\u3001\u4e0b\u8693\u90e8\u53d1\u80b2\u4e0d\u826f\u3001\u51fa\u751f\u524d\u540e\u751f\u957f\u8fdf\u7f13\uff0c\u6709CS\u548c\u590d\u6742\u7578\u5f62\u7684\u8ff9\u8c61\u7684\u5973\u5b69\uff0c\u5982\u90e8\u5206\u9ab6\u9aa8\u65e0\u5f62\u6210\u548c\u5b8c\u5168\u5c3e\u9aa8\u65e0\u5f62\u6210\u3001\u9ab6\u9aa8\u5185\u7c7b\u76ae\u80bf\u3001\u786c\u819c\u5185\u8102\u80aa\u7624\u3001\u5f02\u4f4d\u809b\u95e8\u548c\u7cfb\u7559\u7d22\u3002<sup><a href=\"#reference19\">19-22<\/a><\/sup>\u513f\u7ae5\u663e\u793a\u51fa7q34-q35\u7684de novo<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u4ee5\u53ca7q36\u76848.8-Mb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u3002\u8be5\u5e8f\u5217\u5305\u62ecHLXB9(CS)\u57fa\u56e0\uff0c\u800cPavone et alal\u7b49\u4eba\u7684\u75c5\u4f8b\u62a5\u544a\u5374\u627e\u4e0d\u5230\u3002<sup><a href=\"#reference14\">14<\/a><\/sup>\u672c\u4f8b\u60a3\u513f\u62a5\u544a\u7684\u810a\u67f1\u7578\u5f62\u4e0eCS\u7684\u62a5\u544a\u4e4b\u95f4\u7684\u4e34\u5e8a\u5173\u7cfb\u5c1a\u672a\u786e\u5b9a\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=\"%E7%BB%93%E8%AE%BA\"><\/span>\u7ed3\u8bba<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u603b\u4e4b\uff0c\u5728\u4e0d\u540c\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">q7\u91cd\u590d<\/a>\u7684\u8fd1\u7aef\u3001\u95f4\u8d28\u548c\u8fdc\u7aef\u7f51\u6bb5\u6240\u6d89\u53ca\u7684\u4e2a\u4f53\u4e2d\u89c2\u5bdf\u5230\u7684\u4e34\u5e8a\u75c7\u72b6\u548c\u8eab\u4f53\u5668\u5b98\u662f\u975e\u7279\u5f02\u6027\u7684\uff0c\u6ca1\u6709\u8bca\u65ad\u4e0a\u7684\u63d0\u793a\u3002 \u9664\u4e86\u6ca1\u6709\u5177\u4f53\u7684\u9762\u90e8\u7279\u5f81\u548c\u8f7b\u5ea6\u53d1\u80b2\u8fdf\u7f13\u7684\u975e\u7279\u5f02\u6027\u8bca\u65ad\u4f53\u5f81\u7684\u62a5\u544a\uff0c\u67091\u4f8b\u6d89\u53ca\u57fa\u8d28\u6bb5\u6d78\u6da6\u7684\u75c5\u4f8b\u4e5f\u5f97\u5230\u4e86\u540c\u6837\u7684\u7ed3\u679c\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>\u4f26\u7406\u7684\u627f\u8ba4<\/strong><br>\u8be5\u7814\u7a76\u7b26\u5408\u8d6b\u5c14\u8f9b\u57fa\u5ba3\u8a00\u7684\u4f26\u7406\u51c6\u5219\uff0c\u5e76\u5f97\u5230\u610f\u5927\u5229\u5361\u5854\u5c3c\u4e9a\u5927\u5b66\u533b\u9662\u4f26\u7406\u59d4\u5458\u4f1a\u300cPolicrino Gaspere Rodolico\u300d(nd: 1268 23\/04\/2017)\u7684\u6279\u51c6\u3002 \u6211\u4eec\u83b7\u5f97\u4e86\u60a3\u8005\u7684\u4e66\u9762\u77e5\u60c5\u540c\u610f\uff0c\u4ee5\u63d0\u4ea4\u672c\u75c5\u4f8b\u62a5\u544a\u548c\u9644\u5e26\u7684\u56fe\u50cf\u3002<\/p>\n\n\n\n<p><strong>\u4f5c\u8005\u7684\u8d21\u732e<\/strong><br>\u6bcf\u4f4d\u4f5c\u8005\uff0c\u90fd\u5bf9\u4f5c\u54c1\u7684\u6784\u601d\u6216\u8bbe\u8ba1\u505a\u51fa\u4e86\u91cd\u5927\u8d21\u732e\uff0c\u5e76\u5bf9\u91cd\u8981\u7684\u77e5\u8bc6\u5185\u5bb9\u8fdb\u884c\u4e86\u4e25\u683c\u7684\u4fee\u6539\u3002\u6b64\u5916\uff0c\u6bcf\u4f4d\u4f5c\u8005\u90fd\u6279\u51c6\u4e86\u6700\u7ec8\u7248\u672c\u7684\u51fa\u7248\u3002\u53cd\u4e4b\uff0c\u6bcf\u4e2a\u4f5c\u8005\u90fd\u540c\u610f\u5bf9\u5de5\u4f5c\u7684\u6240\u6709\u65b9\u9762\u8d1f\u8d23\uff0c\u786e\u4fdd\u4e0e\u5de5\u4f5c\u7684\u4efb\u4f55\u90e8\u5206\u7684\u51c6\u786e\u6027\u6216\u5b8c\u6574\u6027\u6709\u5173\u7684\u4efb\u4f55\u95ee\u9898\u5f97\u5230\u9002\u5f53\u7684\u8c03\u67e5\u548c\u89e3\u51b3\u3002<\/p>\n\n\n\n<p><strong>\u8d44\u91d1\u8c03\u5ea6<\/strong><br>\u65e0\u3002<\/p>\n\n\n\n<p><strong>\u5229\u76ca\u76f8\u53cd<\/strong><br>\u65e0\u7533\u62a5\u3002<\/p>\n\n\n\n<p><strong>\u8c22\u8f9e<\/strong><br>\u611f\u8c22\u53c2\u4e0e\u8fd9\u9879\u7814\u7a76\uff0c\u5e76\u540c\u610f\u516c\u5e03\u6587\u4ef6\u548c\u56fe\u7247\u3002<\/p>\n<\/div><\/div>\n<\/div><\/div>\n\n\n\n<p><strong>\u53c2\u8003\u6587\u732e<\/strong><br> <a name=\"reference01\"><\/a>1 Alfonsi M, Palka C, Morizio E, et al. \u7eaf\u7cb9\u7684\u90e8\u52067q\u91cd\u590d\u7684\u65b0\u75c5\u4f8b\u3002 \u7ec6\u80de\u9057\u4f20\u5b66\u57fa\u56e0\u7ec4\u7814\u7a762012;136(01):1-5<br> <a name=\"reference02\"><\/a>2 Bartsch O, Kalbe U, Ngo TK, Lettau R, Schwinger E. \u90e8\u5206\u91cd\u590d7q\u7684\u4e34\u5e8a\u8bca\u65ad\u3002 Am J Med Genet 1990;37 (02):254\u2013257<br> <a name=\"reference03\"><\/a>3Burger R, Deller J, Ortiz, Massachusetts\u3002 \u7b2c7\u67d3\u8272\u4f53\u7684\u957f\u5ea6\uff0c\u4e09\u4f53\u75c7\u5f88\u5c11\u3002 Nouv Presse Med 1974;3(29):1801\u20131804<br> <a name=\"reference04\"><\/a>4 CouzinDA,HaitesN,Watt JL, JohnstonAW. 2\u4eba\u513f\u7ae57(q32&#8211;qter)\u90e8\u5206\u4e09\u4f53\u7efc\u5408\u75c7\u3002 JMed Genet 1986;23(05):461-465<br> <a name=\"reference05\"><\/a>5 Fruhmesser A, ErdelM, DubaHC, et al.CombinedDup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), \u4ee5\u53caIns(7;19)(q22.1;p13.2p13.2)\uff0c12\u5c81\u7684\u7537\u5b69\uff0c\u53d1\u80b2\u8fdf\u7f13\u4ee5\u53ca\u5404\u79cd\u5f02\u6027\u6001\u3002 Eur J Med Genet 2013;56(07):383\u2013388<br> <a name=\"reference06\"><\/a>6GraceE, Sutherland GR, Bain AD. \u5bb6\u65cf\u6027\u63d2\u5165\u6613\u4f4d\u3002 Lancet 1972;2(7770):231<br> <a name=\"reference07\"><\/a>7 Keith CG, Webb GC, Rogers JG. \u67d3\u8272\u4f53\u6bb57q32&#8211;q34\u7684\u91cd\u590d\u4e0e\u5173\u8054\u5916\u4fa7\u76f4\u808c\u7f3a\u9677\u3002 J Med Genet 1988;25(02):122-125<br> <a name=\"reference08\"><\/a>8 Kim IS, Oh SY, Choi SJ, et al. \u97e9\u56fd\u5361\u62c9\u91cc\u8bfa\u7efc\u5408\u5f81\u60a3\u8005HLXB9\u57fa\u56e0\u7684\u4e34\u5e8a\u548c\u9057\u4f20\u5206\u6790 J Hum Genet 2007;52(08):698-701<br> <a name=\"reference09\"><\/a>9 Lynch SA, Wang Y, Strachan T, Burn J, Lindsay S. \u5e38\u67d3\u8272\u4f53\u663e\u6027\u9ab6\u9aa8\u65e0\u53d1\u751f: Currarino\u7efc\u5408\u75c7\u3002 J Med Genet 2000;37(08):561-566<br> <a 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Partial trisomy of 7q: \u75c5\u4f8b\u62a5\u544a\u548c\u6587\u732e\u56de\u987e\u3002 J Child Neurol 2008;23(05):572\u2013579<br> <a name=\"reference19\"><\/a>19 Schubbert S, Shannon K, Bollag G. \u5728\u53d1\u80b2\u969c\u788d\u548c\u764c\u75c7\u4e2d\u7684\u5e94\u7528Ras.Nat Rev Cancer 2007;7(04):295-308<br> <a name=\"reference20\"><\/a>20 Serville F, Broustet A, Sandler B, Bourdeau MJ, LeloupM. \u4e09\u4f537qparty cell Ann Genet 1975;18(01):67-70<br> <a name=\"reference21\"><\/a>21 Verma RS, Conte RA, Pitter JH. \u7b2c7\u67d3\u8272\u4f53\u957f\u81c2\u672b\u7aef\u5e26\u7684\u4e32\u8054\u91cd\u590d(\u53cc\u91cd\u590d(7)(q36-qter))\u3002 J Med Genet 1992;29(05):344-345<br> <a name=\"reference22\"><\/a>22 Weimer J, Heidemann S, von Kaisenberg CS, et al. \u6d89\u53ca7\u53f7\u67d3\u8272\u4f53\u30019\u53f7\u67d3\u8272\u4f53\u300110\u53f7\u67d3\u8272\u4f53\u7684\u590d\u6742\u5bb6\u65cf\u6027\u91cd\u6392\u7ed3\u679c\u30017q21.2-31.31\u4e09\u4f53\u5355\u79bb\u3002 Mol Cytogenet 2011;4:28<\/p>\n","protected":false},"excerpt":{"rendered":"Alessandra\u30fbDi\u30fbNola1\u3001&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":898,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[251],"tags":[327],"class_list":["post-46504","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-treatise-zh-hans","tag-327"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/46504","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=46504"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/46504\/revisions"}],"predecessor-version":[{"id":109680,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/46504\/revisions\/109680"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/898"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=46504"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=46504"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=46504"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}