{"id":46243,"date":"2021-10-15T10:17:24","date_gmt":"2021-10-15T01:17:24","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q21-1-microduplications\/"},"modified":"2025-08-11T14:26:39","modified_gmt":"2025-08-11T05:26:39","slug":"1q21-1-microduplications","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q21-1-microduplications\/?lang=zh-hans","title":{"rendered":"1q21.1 \u90e8\u5206\u91cd\u590d"},"content":{"rendered":"\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_83 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of 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>\u5b83\u4f1a\u518d\u6b21\u53d1\u751f\u5417?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q21-1-microduplications\/?lang=zh-hans\/#%E6%82%A3%E6%9C%891q211%E7%9A%84%E9%83%A8%E5%88%86%E9%87%8D%E5%A4%8D%E7%9A%84%E4%BA%BA%E7%9A%84%E5%AD%A9%E5%AD%90%EF%BC%8C%E6%98%AF%E5%90%A6%E5%90%8C%E6%A0%B7%E5%8F%97%E5%BD%B1%E5%93%8D\" >\u60a3\u67091q21.1\u7684\u90e8\u5206\u91cd\u590d\u7684\u4eba\u7684\u5b69\u5b50\uff0c\u662f\u5426\u540c\u6837\u53d7\u5f71\u54cd?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-31\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q21-1-microduplications\/?lang=zh-hans\/#1q211%E7%9A%84%E5%9F%BA%E5%9B%A0%E7%9A%84%E4%B8%80%E9%83%A8%E5%88%86\" >1q21.1\u7684\u57fa\u56e0\u7684\u4e00\u90e8\u5206<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-32\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q21-1-microduplications\/?lang=zh-hans\/#%E6%94%AF%E6%8C%81%E4%B8%8E%E4%BF%A1%E6%81%AF\" >\u652f\u6301\u4e0e\u4fe1\u606f<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9D%A5%E6%BA%90%E5%92%8C%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\"><\/span>\u6765\u6e90\u548c\u53c2\u8003\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u672c\u6307\u5357\u4e2d\u7684\u4fe1\u606f\u3001\u6765\u81ea\u4e8e\u5bf950\u540d<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u90e8\u5206\u91cd\u590d<\/a>\u60a3\u8005\u7684\u4e86\u89e3\u3002<br>PubMed (www.ncbi) \u63d0\u4f9b\u7b2c\u4e00\u4f5c\u8005\u59d3\u540d\u548c\u53d1\u8868\u65e5\u671f\uff0c\u4ee5\u4fbf\u5728\u4e92\u8054\u7f51\u4e0a\u641c\u7d22\u6458\u8981\u548c\u539f\u521b\u6587\u7ae0\u3002 nlm.nih.gov\/ pubmed). \u5982\u679c\u613f\u610f\uff0c\u53ef\u4ee5Unique\u83b7\u5f97\u8bba\u6587\u3002<br>\u672c\u4f20\u5355\u8fd8\u5229\u7528\u4e86\uff0cUnique\u6570\u636e\u5e93(Brunetti Pieri2008)\u3002<br>Mefford2008\u3001Aldinger 2009\u3001Brunetto2009\u3001Greenway2009\u3001Stanciewicz 2010\u3001Unique<\/p>\n<\/div><\/div>\n\n\n\n<hr class=\"wp-block-separator has-css-opacity\"\/>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u7684\u90e8\u5206\u91cd\u590d<\/a>\u662f\u4e00\u79cd\u975e\u5e38\u7f55\u89c1\u7684\u9057\u4f20\u75c5\uff0c\u5373\u5728\u8eab\u4f53\u7684\u7ec6\u80de\u4e2d\u53d1\u73b01\u6761\u67d3\u8272\u4f53\u7684\u989d\u5916\u5c0f\u7247\u6bb5\u3002 \u591a\u51fa\u7684\u8fd9\u4e00\u5c0f\u90e8\u5206\u4f1a\u589e\u52a0\u5b66\u4e60\u548c\u53d1\u5c55\u56f0\u96be\u7684\u98ce\u9669\u3002 \u4f46\u662f\uff0c\u5b58\u5728\u7740\u5f88\u5927\u7684\u4e2a\u4f53\u5dee\u5f02\u3002 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u7684\u90e8\u5206\u91cd\u590d<\/a>\u7684\u4eba\u4ece\u6ca1\u6709\u75c7\u72b6\u7684\u4eba\u5230\u6709\u53d1\u80b2\u8fdf\u7f13\u548c\u5065\u5eb7\u95ee\u9898\u7684\u4eba\u4e0d\u7b49\u3002<\/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<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%9F%BA%E5%9B%A0%E4%B8%8E%E6%9F%93%E8%89%B2%E4%BD%93\"><\/span>\u57fa\u56e0\u4e0e\u67d3\u8272\u4f53<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6211\u4eec\u7684\u8eab\u4f53\u662f\u7531\u6570\u5341\u4ebf\u4e2a\u7ec6\u80de\u7ec4\u6210\u7684\u3002\u8fd9\u4e9b\u7ec6\u80de\u4e2d\u7684\u5927\u591a\u6570\u542b\u6709\u5927\u7ea62\u4e07\u4e2a\u57fa\u56e0\u3002\u57fa\u56e0\u7684\u4f5c\u7528\u5c31\u50cf\u4e00\u5957\u6307\u4ee4\uff0c\u6307\u5bfc\u6211\u4eec\u7684\u751f\u957f\u3001\u53d1\u80b2\u548c\u8eab\u4f53\u529f\u80fd\u3002\u57fa\u56e0\uff0c\u88ab\u7eb3\u5165\u79f0\u4e3a\u67d3\u8272\u4f53\u7684\u7ed3\u6784\u4e2d\u3002\u901a\u5e38\u670946\u6761\u67d3\u8272\u4f53\uff0c23\u6761\u9057\u4f20\u81ea\u6bcd\u4eb2\uff0c23\u6761\u9057\u4f20\u81ea\u7236\u4eb2\uff0c\u6784\u62102\u7ec423\u6761\u67d3\u8272\u4f53\u30022\u6761\u6027\u67d3\u8272\u4f53\uff08\u5973\u6027\u6709X2\u6761\u3001\u7537\u6027\u6709X\u4e0eY\u54041\u6761\uff09\u9664\u5916\uff0c\u67d3\u8272\u4f53\u4ece1\u523022\u7f16\u53f7\u30021\u53f7\u662f\u6700\u5927\u7684\u67d3\u8272\u4f53\u3002\u6bcf\u6761\u67d3\u8272\u4f53\uff0c\u90fd\u6709\u4e00\u4e2a\u77ed\u81c2\uff08\u7b2c3\u9875\u56fe\u4e2d\u7684\u5de6\u4fa7\uff09\u548c\u957f\u81c2\uff08\u53f3\u4fa7\uff09\uff0c\u77ed\u81c2\u5728\u6cd5\u8bed\u4e2d\u610f\u4e3a\u300c\u5c0f\u300d\u7684\u610f\u601d\uff0c\u4ecepetit\u4e2d\u53d6p\u4f5c\u4e3a\u79f0\u547c\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=\"%E8%A7%82%E5%AF%9F%E6%9F%93%E8%89%B2%E4%BD%931q\"><\/span>\u89c2\u5bdf\u67d3\u8272\u4f531q<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8089\u773c\u770b\u4e0d\u5230\u67d3\u8272\u4f53\uff0c\u4f46\u5728\u663e\u5fae\u955c\u4e0b\u8fdb\u884c\u67d3\u8272\u548c\u653e\u5927\u540e\uff0c\u6bcf\u6761\u67d3\u8272\u4f53\u90fd\u6709\u4e00\u4e2a\u7279\u6709\u7684\u660e\u6697\u5e26\u56fe\u6848\u3002\u7b2c3\u9875\u7684\u56fe\u8868\u663e\u793a\uff0c\u67d3\u8272\u4f53\u5e26\uff0c\u662f\u4ece\u957f\u81c2\u548c\u77ed\u81c2\u7684\u63a5\u89e6\u70b9\u5411\u5916\u7f16\u53f7\u7684\u3002\u5728<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u90e8\u5206\u91cd\u590d<\/a>\u4e2d\uff0c\u67d3\u8272\u4f53\u5e26\u5728q21.1\u76842\u4e2a\u4f4d\u7f6e\u65ad\u88c2\uff0c\u4e2d\u95f4\u6709\u5c11\u91cf\u7684\u67d3\u8272\u4f53\u7269\u8d28\u91cd\u590d\u3002<br>\u5728\u663e\u5fae\u955c\u4e0b\u89c2\u5bdf\u67d3\u8272\u4f53\uff0c\u53ef\u80fd\u4f1a\u53d1\u73b0\u67d3\u8272\u4f53\u65ad\u88c2\u7684\u5730\u65b9\u3002\u5982\u679c\u6709\u4e00\u4e2a\u8db3\u591f\u5927\u7684\u591a\u4f59\u90e8\u5206\uff08\u91cd\u590d\uff09\uff0c\u53ef\u4ee5\u770b\u5230\u4e00\u4e2a\u663e\u793a\u5176\u5927\u5c0f\u7684\u5e26\u72b6\u56fe\u6848\u3002<br>\u7136\u800c\uff0c\u5728\u90e8\u5206\u91cd\u590d\u7684\u60c5\u51b5\u4e0b\uff0c\u591a\u4f59\u7684\u90e8\u5206\u975e\u5e38\u5c0f\uff0c\u5373\u4f7f\u7528\u9ad8\u6027\u80fd\u7684\u663e\u5fae\u955c\u4e5f\u65e0\u6cd5\u770b\u5230\u3002\u591a\u51fa\u6765\u7684\u90e8\u5206\u975e\u5e38\u5c0f\uff0c\u5373\u4f7f\u7528\u9ad8\u6027\u80fd\u7684\u663e\u5fae\u955c\u4e5f\u770b\u4e0d\u5230\uff0c\u53ea\u80fd\u901a\u8fc7\u5206\u5b50DNA\u6280\u672f\u6765\u8bc6\u522b\u3002\u6700\u5e38\u89c1\u7684\u6280\u672f\u88ab\u79f0\u4e3a\u5fae\u9635\u5217\uff08\u9635\u5217CGH\uff09\u3002\u5fae\u5217\u9635\u663e\u793a\u4e86\u67d3\u8272\u4f53\u4e0a\u5fae\u5c0f\u6570\u91cf\u7684DNA\u7684\u589e\u52a0\u6216\u51cf\u5c11\u3002\u5fae\u5217\u9635\u53ef\u4ee5\u663e\u793a\u4e00\u4e2a\u7279\u5b9a\u7684\u57fa\u56e0\u6216\u57fa\u56e0\u7684\u4e00\u90e8\u5206\uff0c\u662f\u5426\u5b58\u57281\u6b21\u30012\u6b21\u30013\u6b21\u6216\u6839\u672c\u4e0d\u5b58\u5728\u3002Unique\u51fa\u7248\u4e86\u4e00\u4efd\u5355\u72ec\u7684\u9635\u5217CGH\u6307\u5357\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=\"%E6%AD%A3%E5%B8%B8%E7%9A%84%E5%9F%BA%E5%9B%A0%E5%8F%98%E5%BC%82%E5%90%97\"><\/span>\u6b63\u5e38\u7684\u57fa\u56e0\u53d8\u5f02\u5417?<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\">1q21.1\u7684\u90e8\u5206\u91cd\u590d<\/a>\uff0c\u4e0e\u8f6c\u8bca\u8fdb\u884c\u67d3\u8272\u4f53\u68c0\u6d4b\u7684\u4eba\u7fa4\u4e00\u6837\uff0c\u5728\u666e\u901a\u4eba\u7fa4\u4e2d\u90fd\u6709\u53d1\u73b0\u3002\u6700\u521d\uff0c\u8fd9\u4e9b\u88ab\u8ba4\u4e3a\u662f\u4e2a\u4f53\u4e4b\u95f4\u6b63\u5e38\u9057\u4f20\u53d8\u5f02\u7684\u4e00\u90e8\u5206\u3002\u7136\u800c\uff0c\u5b83\u4eec\u5728\u8f6c\u8bca\u8fdb\u884c\u57fa\u56e0\u68c0\u6d4b\u7684\u4eba\u4e2d\u66f4\u4e3a\u5e38\u89c1\uff0c\u73b0\u5728\u88ab\u8ba4\u4e3a\u4f1a\u589e\u52a0\u5bf9\u5404\u79cd\u53d1\u80b2\u969c\u788d\u7684\u6613\u611f\u6027\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=\"1q211%E7%9A%84%E9%83%A8%E5%88%86%E9%87%8D%E5%A4%8D_2%E7%A7%8D%E5%A4%A7%E5%B0%8F\"><\/span>1q21.1\u7684\u90e8\u5206\u91cd\u590d:2\u79cd\u5927\u5c0f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>1q21.1\u5fae\u590d\u5236\u67092\u79cd\u5927\u5c0f\u3002\u5927\u5c0f\u8303\u56f4\u7ea6\u4e3a100\u4e07\u4e2a\u78b1\u57fa\u5bf9\u3002100\u4e07\u97f3\u662f\u53ef\u4ee5\u542c\u5230\u7684\uff0c\u4f46\u5b9e\u9645\u592a\u5c0f\u4e86\uff0c\u4ee5\u81f3\u4e8e\u5728\u663e\u5fae\u955c\u4e0b\u65e0\u6cd5\u770b\u5230\u3002\u663e\u5fae\u955c\u89c2\u5bdf\u9700\u8981\u5927\u7ea6500\u4e07\u78b1\u57fa\u5bf9\u7684\u7247\u6bb5\u3002\u78b1\u57fa\u5bf9\u662fDNA\u4e2d\u7684\u5316\u5b66\u7269\u8d28\uff0c\u5f62\u6210\u68af\u72b6\u7ed3\u6784\u7684\u300c\u68af\u7ea7\u300d\u672b\u7aef\u3002\u7b2c1\u67d3\u8272\u4f53\u5927\u7ea6\u67092.47\u4ebf\u4e2a\u78b1\u57fa\u5bf9\u3002\u5e261q21.1\u5305\u542b540\u4e07\u4e2a\u78b1\u57fa\u5bf9\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 class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"438\" height=\"550\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-a.png\" alt=\"\" class=\"wp-image-18137\"\/><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<p style=\"font-size:18px\">bp=1\u78b1\u57fa\u5bf9<br>kb = 1,000\u78b1\u57fa\u5bf9<br>Mb=100\u4e07\u78b1\u57fa\u5bf9<\/p>\n<\/div>\n<\/div>\n<\/div><\/div>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u7684\u91cd\u590d<\/a>\uff0c\u901a\u5e38\uff0c\u4f4d\u4e8e\u4e0b\u56fe\u7684146 Mb\u5230147.8Mb\u4e4b\u95f4\u7684\u4f4d\u7f6e\u3002 \u8fd9\u4e2a\u8282\u70b9\u81f3\u5c11\u5305\u542b9\u4e2a\u5df2\u77e5\u7684\u57fa\u56e0\uff0c\u800c\u4e14\u5df2\u77e5\u8fd8\u5305\u542b\u66f4\u591a\u7684\u57fa\u56e0\u3002\u6570\u5b57\u662fa\uff0c\u53731\u53f7\u67d3\u8272\u4f53\u4e0a1Mb\uff08\u77ed\u81c2\u5c16\u7aef\uff09\u548c\u672c\u9875\u5e95\u56fe\u4e2d249.25Mb\uff08\u957f\u81c2\u5c16\u7aef\uff09\u4e4b\u95f4\u7684\u4f4d\u7f6e(BrunettiPierri 2008; Mefford 2008)<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"458\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-b-1024x458.png\" alt=\"\" class=\"wp-image-18139\"\/><\/figure>\n\n\n\n<p>\u6765\u81eaNature Genetics Vol. 40 (12) p1469\u3001\u7ecfAnkita Patel\u535a\u58eb\u8bb8\u53ef\u7f16\u8f91\uff0c\u968f\u540e\u66f4\u65b0\u3002\u672c\u56fe\u4e2d\u7684\u6570\u5b57\uff0c\u6307\u7684\u662f\u4eba\u7c7b\u57fa\u56e0\u7ec4\u6784\u5efa\u726919\uff08hg19\uff0c\u8be6\u89c1\u7b2c4\u9875\uff09\u3002\u60a8\u5b69\u5b50\u7684\u62a5\u544a\uff0c\u53ef\u80fd\u6307\u7684\u662f\u4e0d\u540c\u7684\u4eba\u7c7b\u57fa\u56e0\u7ec4\u6784\u5efa\u3002\u8be2\u95ee\u81ea\u8eab\u6216\u9057\u4f20\u5b66\u4e13\u5bb6\u3002<br>\u5e2e\u52a9\u7406\u89e3\u62a5\u544a\u4e66\u3002<\/p>\n\n\n\n<p><strong>\u5927\u5c0f2<\/strong>\uff0c\u7ea61.35~2Mb\u662f\u4e00\u4e2a\u8f83\u5927\u7684\u590d\u5236\u3002 \u5305\u542b25\u4e2a\u5df2\u77e5\u7684\u57fa\u56e0\u3002\u8fd9\u79cd\u590d\u5236\uff0c\u662f\u4ece\u5728\u4e0b\u56fe\uff0c(Brunetti-Pierri 2008; Mefford 2008)\u7684145.4Mb\u4e0e147.8Mb\u79cd\u5f00\u59cb\u7684\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"923\" height=\"275\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-c.png\" alt=\"\" class=\"wp-image-18141\"\/><\/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=\"%E5%88%97%E9%98%B5CGH%E6%8A%A5%E5%91%8A\"><\/span>\u5217\u9635CGH\u62a5\u544a<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading hidden-heading\"><\/h3>\n\n\n\n<p>\u53d1\u73b0<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u90e8\u5206\u91cd\u590d<\/a>\u7684\u5b9e\u9a8c\u5ba4\uff0c\u901a\u5e38\u53d1\u9001\u4ee5\u4e0b\u62a5\u544a\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>arr[hg19]1q21.1(146701190-147623589)x3<\/strong><\/h4>\n\n\n\n<p>\u4f7f\u7528\u5fae\u9635\u5217\u6280\u672f\u8fdb\u884c\u5206\u6790<br>\u4eba\u7c7b\u57fa\u56e0\u7ec4\u6784\u5efa19\u3002\u8fd9\u662f\uff0c\u78b1\u57fa\u5bf9\u7f16\u53f7\u53c2\u8003\u57fa\u51c6\u7684DNA\u5e8f\u5217\u3002146,701,190\uff08\u7ea6146.7Mb\uff09\u5230147623589\uff08\u7ea6147.6Mb\uff09\u4e4b\u95f4\u7684\u78b1\u57fa\u5bf9\uff0c\u5df2\u88ab\u8bc1\u660e\u662f\u91cd\u590d\u7684\u3002<br>\u53d6\u7b2c1\u4e2a\u957f\u6570\u5b57\u548c\u7b2c2\u4e2a\u957f\u6570\u5b57\uff0c\u5f97\u51fa922399\u3002x3\u3001\u610f\u5473\u7740\u8fd9\u4e9b\u78b1\u57fa\u5bf9\u7684\u590d\u5236\u67093\u5404\uff0c\u800c\u4e0d\u662f\u50cf\u901a\u5e38\u5047\u8bbe\u7684\u90a3\u6837\u67092\u4e2a\uff081\u53f7\u67d3\u8272\u4f53\u4e0a\u6bcf\u4e2a\u90fd\u6709\uff09\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\">arr (RP11-337C18,RP11-533N14,RP11-102F23)x3<\/h4>\n\n\n\n<p>\u4f7f\u7528\u5fae\u9635\u5217\u6280\u672f\u8fdb\u884c\u5206\u6790<br><\/p>\n\n\n\n<p>1q21.1\u5e26\u7684\u4f4d\u7f6e\u53d1\u73b0\u67093\u4e2a\u5df2\u77e5\u79cd\u7c7b\u7684\u6807\u8bb0\u7269\u91cd\u590d\u51fa\u73b0<br>\u5076\u5c14\u4f1a\u6709\u8fd9\u6837\u7684\u62a5\u544a\u5bc4\u7ed9\u6211\u4eec\u3002 \u8fd9\u4efd\u62a5\u544a\u4e0d\u662f\u5f88\u8be6\u7ec6\uff0c\u6ca1\u6709\u7ed9\u51fa\u591a\u4f59\u533a\u57df\u7684\u5927\u5c0f\u3002<br><\/p>\n\n\n\n<h4 class=\"wp-block-heading\">46,XY,dup(1)(q21.1q21.1)<\/h4>\n\n\n\n<p>\u5b69\u5b50\u7ec6\u80de\u4e2d\u7684\u67d3\u8272\u4f53\u6570\u91cf 2\u6761\u6027\u67d3\u8272\u4f53\u3002 \u7537\u6027\u4e3aXY\uff0c\u5973\u6027\u4e3aXX\u91cd\u590d\uff0c\u6216\u591a\u4f59\u7684\u7269\u8d28 \u91cd\u590d\u662f\u6765\u81ea1\u53f7\u67d3\u8272\u4f53 \u67d3\u8272\u4f53\u67092\u4e2a\u65ad\u70b9\uff0c\u90fd\u57281q21.1\u5e26\u3002 \u8fd92\u4e2a\u5206\u6b67\u70b9\u4e4b\u95f4\u7684\u7269\u8d28\u662f\u91cd\u590d\u7684\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=\"%E6%98%AF%E5%90%A6%E6%9C%891q211%E9%83%A8%E5%88%86%E9%87%8D%E5%A4%8D%E7%9A%84%E4%BA%BA%E5%8F%91%E8%82%B2%E6%AD%A3%E5%B8%B8%EF%BC%8C%E6%B2%A1%E6%9C%89%E5%81%A5%E5%BA%B7%E3%80%81%E5%AD%A6%E4%B9%A0%E6%88%96%E8%A1%8C%E5%8A%A8%E7%9A%84%E9%97%AE%E9%A2%98\"><\/span>\u662f\u5426\u67091q21.1\u90e8\u5206\u91cd\u590d\u7684\u4eba\u53d1\u80b2\u6b63\u5e38\uff0c\u6ca1\u6709\u5065\u5eb7\u3001\u5b66\u4e60\u6216\u884c\u52a8\u7684\u95ee\u9898?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u662f\uff0c\u6709\u7684\u3002\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u90e8\u5206\u91cd\u590d<\/a>\u770b\u4e0d\u51fa\u6765\u7684\u60c5\u51b5\u3002\u6709\u4e9b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u90e8\u5206\u91cd\u590d<\/a>\u7684\u60a3\u513f\u7684\u7236\u6bcd\u6709\u76f8\u540c\u7684\u90e8\u5206\u91cd\u590d\uff0c\u4f46\u6ca1\u6709\u660e\u663e\u7684\u5f02\u5e38\u7279\u5f81\u6216\u53d1\u80b2\u8fdf\u7f13\u3002\u5176\u4ed6\u6709\u91cd\u590d\u73b0\u8c61\u7684\u7236\u6bcd\u8eab\u4e0a\u7684\u5f81\u5146\uff0c\u975e\u5e38\u5fae\u5999\uff0c\u51e0\u4e4e\u770b\u4e0d\u51fa\u6765\u3002\u53e6\u5916\uff0c \u4e00\u4e9b\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u90e8\u5206\u91cd\u590d<\/a>\u7684\u513f\u7ae5\u4e5f\u80fd\u6b63\u5e38\u53d1\u80b2\u3002<br>\u5176\u4e2d\u4e00\u4e9b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u57fa\u56e0\u53d8\u5f02\u7684\u5f71\u54cd<\/a>\uff0c\u4ece\u51e0\u4e4e\u770b\u4e0d\u51fa\u6765\u5230\u660e\u663e\u548c\u4e25\u91cd\uff0c\u5404\u79cd\u5404\u6837\u3002\u5728\u8fd9\u4e2a\u610f\u4e49\u4e0a\uff0c\u5c31\u50cf\u6d41\u611f\u7b49\u4f20\u67d3\u75c5\u4e00\u6837\uff0c\u8303\u56f4\u53ef\u4ee5\u4ece\u8f7b\u5fae\u5230\u4e25\u91cd\u3002\uff08Brunetti-Pierri 2008; Mefford 2008; Aldinger 2009; Stanciewicz 2010\uff09<\/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=\"%E6%9C%891q211%E7%9A%84%E9%83%A8%E5%88%86%E9%87%8D%E5%A4%8D%E7%BB%BC%E5%90%88%E7%97%87%E5%90%97\"><\/span>\u67091q21.1\u7684\u90e8\u5206\u91cd\u590d\u7efc\u5408\u75c7\u5417?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u4e0d\uff0c\u6ca1\u6709\u3002\u4e0e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u90e8\u5206\u91cd\u590d<\/a>\u6709\u5173\u7684\u7279\u5f81\u592a\u591a\uff0c\u4e0d\u80fd\u79f0\u4e4b\u4e3a\u7efc\u5408\u75c7\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 class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"652\" height=\"1000\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-d.jpg\" alt=\"\" class=\"wp-image-18143\"\/><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<p style=\"font-size:18px\">\u5e38\u89c1\u7684\u60c5\u51b5\u662f\uff1a\u7236\u4eb2\u4e0e\u513f\u5b50\u53cc\u65b9\u90fd\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u7684\u90e8\u5206\u91cd\u590d<\/a>\u3002\u4f46\u662f\uff0c\u53d1\u73b0\u7236\u4eb2\u90e8\u5206\u91cd\u590d\uff0c\u662f\u5728\u53d1\u73b0\u513f\u5b50\u90e8\u5206\u91cd\u590d\u4e4b\u540e\u3002<\/p>\n<\/div>\n<\/div>\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<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9C%80%E6%9C%89%E5%8F%AF%E8%83%BD%E7%9A%84%E7%89%B9%E5%BE%81\"><\/span>\u6700\u6709\u53ef\u80fd\u7684\u7279\u5f81<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u2981 \u76f8\u5bf9\u8f83\u5927\u7684\u5934\u90e8<br>\u2981 \u60a3\u8f7b\u5ea6\u6216\u4e2d\u5ea6\u53d1\u80b2\u969c\u788d\u7684\u53ef\u80fd\u6027\u589e\u52a0<br>\u2981 \u6709\u81ea\u95ed\u75c7\u6216\u81ea\u95ed\u75c7\u7c7b\u4f3c\u7684\u884c\u4e3a\u7684\u53ef\u80fd\u6027\u589e\u52a0<br>\u2981 \u5916\u89c2\u7565\u6709\u4e0d\u540c<br>\u2981 \u5fc3\u810f\u75be\u75c5<\/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%85%B6%E4%BB%96%E7%89%B9%E5%BE%81\"><\/span>\u5176\u4ed6\u7279\u5f81<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u2981 \u53d1\u4f5c<br>\u2981 \u5176\u4ed6\u5148\u5929\u5f02\u5e38\u7684\u98ce\u9669\u589e\u52a0<\/p>\n<\/div><\/div>\n\n\n\n    <a href=\"\/nipt\/nipt\/nipt\/?lang=zh-hans\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u77e5\u7684\u969c\u304c\u3044\u304c\u308f\u304b\u308bNIPT\u3068\u306f\uff08NIPT\u306e\u57fa\u672c\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u3067\u884c\u3063\u3066\u3044\u308bNIPT\u306e\u307e\u3068\u3081\u3067\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306eNIPT\u3067\u306f\u77e5\u7684\u969c\u5bb3\u30fb\u767a\u9054\u969c\u5bb3\u3092\u4f34\u3046\u591a\u6570\u306e\u75be\u60a3\u3092\u51fa\u751f\u524d\u306b\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8F%AF%E8%83%BD%E6%80%A7%E6%9C%80%E9%AB%98%E7%9A%84%E7%89%B9%E5%BE%81\"><\/span>\u53ef\u80fd\u6027\u6700\u9ad8\u7684\u7279\u5f81<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading hidden-heading\"><\/h3>\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<h4 class=\"wp-block-heading\">\u76f8\u5bf9\u8f83\u5927\u7684\u5934\u90e8<\/h4>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"320\" height=\"240\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-e.jpg\" alt=\"\" class=\"wp-image-18145\"\/><figcaption class=\"wp-element-caption\">14\u5404\u6708\u9f84<\/figcaption><\/figure><\/div>\n\n\n<p>\u591a\u9879\u7814\u7a76\u8868\u660e\uff0c\u8fd9\u79cd\u90e8\u5206\u91cd\u590d\u7684\u4eba\uff0c\u7ea6\u6709\u4e00\u534a\u4ee5\u4e0a\u7684\u5934\u90e8\u4e0e\u8eab\u4f53\u76f8\u6bd4\u5f88\u5927\u3002<br>\u8fd9\u8868\u660e\uff0c\u90e8\u5206\u91cd\u590d\u4f1a\u5f71\u54cd\u5927\u8111\u7684\u751f\u957f\u3002 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1\u53f7\u67d3\u8272\u4f53\u8fd9\u90e8\u5206\u7f3a\u5931(\u90e8\u5206\u7f3a\u5931)<\/a>\u7684\u4eba\u7684\u5934\u90e8\u975e\u5e38\u5c0f\uff0c\u8fd9\u652f\u6301\u4e86<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931\u6216\u91cd\u590d\u90e8\u5206\u7684\u57fa\u56e0<\/a>\u4f1a\u5f71\u54cd\u5934\u90e8\u751f\u957f\u7684\u89c2\u70b9\u3002 \u53ef\u80fd\u5bf9\u51b3\u5b9a\u5934\u90e8\u751f\u957f\u6709\u91cd\u8981\u4f5c\u7528\u7684\u57fa\u56e0(19\u9875\u76841q21.1\u7684\u4e00\u4e9b\u57fa\u56e0\u53c2\u7167)\u3002<\/p>\n\n\n\n<p>\u6709\u4eba\u8ba4\u4e3a\u5c0f\u5934\u548c\u7cbe\u795e\u5065\u5eb7\u95ee\u9898\uff0c\u7279\u522b\u662f\u7cbe\u795e\u5206\u88c2\u75c7\u4e4b\u95f4\u53ef\u80fd\u5b58\u5728\u5173\u8054\uff0c\u4f46\u5728\u5927\u5934\u7684\u4eba\u4e2d(Brunetti-Pierri 2008; Mefford 2008; Aldinger 2009)\u6ca1\u6709\u8fd9\u79cd\u5173\u8054\u3002<br>\u5728\u5177\u6709\u8fd9\u79cd\u90e8\u5206\u91cd\u590d\u7684\u72ec\u7279\u6210\u5458\u4e2d\uff0c\u5934\u90e8\u5927\u5c0f\u662f\u53ef\u53d8\u7684\u3002 9\u540d\u6210\u5458\u4e2d\uff0c\u67094\u540d\u6210\u5458\u7684\u5934\u90e8\u8f83\u5927\u6216\u76f8\u5bf9\u8f83\u5927\u3002 \u67092\u4e2a\u72ec\u7279\u7684\u6210\u5458\u51fa\u751f\u65f6\u5934\u9aa8\u5df2\u7ecf\u878d\u5408(\u5934\u76d6\u9aa8\u878d\u5408\u75c7)\u3002 \u5728\u624b\u672f\u548c\u91cd\u5851\u6210\u529f\u4e4b\u540e\uff0c2\u4e2a\u75c5\u4f8b\u7684\u5934\u90e8\u751f\u957f\u90fd\u5f88\u5e73\u5747\u30022\u4e2a\u5b69\u5b50\u90fd\u6ca1\u6709\u766b\u75eb\u53d1\u4f5c.<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p><q>\u6211\u9a91\u6469\u6258\u8f66\uff0c\u603b\u662f\u9700\u8981\u6700\u5927\u7684\u5934\u76d4\u3002<\/q><br><q><em> &#8211; \u60a3\u67091q21.1\u90e8\u5206\u91cd\u590d\u7684\u6210\u4eba<\/em><\/q><\/p>\n<\/blockquote>\n\n\n\n<p><\/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<h4 class=\"wp-block-heading\">\u8111<\/h4>\n\n\n\n<p>\u5728\u533b\u5b66\u6587\u732e\u4e2d\u62a5\u9053\u768427\u4e2a\u75c5\u4f8b\u4e2d\uff0c\u67093\u4e2a\u75c5\u4f8b\u53d1\u73b0\u4e86\u7ed3\u6784\u6027\u8111\u7578\u5f62\u3002 \u8fde\u63a5\u4e24\u4fa7\u5927\u8111\u7684\u795e\u7ecf\u7ea4\u7ef4\u5e26\u5f88\u8584(\u8111\u6881\u5f62\u6210\u4e0d\u5168)\uff0c\u57281\u4e2a\u75c5\u4f8b\u4e2d\uff0c\u5728\u4e24\u4fa7\u5c0f\u8111\u4e4b\u95f4\u6709\u4e00\u4e2a\u8584\u7684\u866b\u5f62\u7ed3\u6784\uff0c\u800c\u5728\u8fd0\u52a8\u548c\u534f\u8c03(\u5c0f\u8133\u866b\u90e8)\u4e2d\u8d77\u91cd\u8981\u4f5c\u7528\u7684\u5927\u8111\u7684\u80cc\u90e8\u548c\u5e95\u90e8\u7684\u533a\u57df\u4e5f\u6b20\u53d1\u8fbe\u3002 1\u4e2a\u75c5\u4f8b\u7684\u8111\u7684\u5c0f\u8111\u90e8\u5206\u7a81\u51fa\u5230\u690e\u7ba1\u4e2d(Chiari\u7578\u5f62)\u3002 1\u4e2a\u75c5\u4f8b\u5728\u5927\u8111\u4e2d\u79ef\u805a\u4e86\u6db2\u4f53(\u8111\u79ef\u6c34\u75c7)(Brunetti-Pierri 2008; Mefford 2008)\u3002 \u56fa\u6709\u6210\u5458\u62a5\u544a\u8bf4\u5927\u8111\u7ed3\u6784\u6ca1\u6709\u5f02\u5e38(\u56fa\u6709)\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<h4 class=\"wp-block-heading\">\u53d1\u80b2\u8fdf\u7f13\u4ee5\u53ca\u5b66\u4e60\u56f0\u96be\u7684\u98ce\u9669\u589e\u52a0<\/h4>\n\n\n\n<p>\u60a3\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u7684\u90e8\u5206\u91cd\u590d<\/a>\u7684\u5b69\u5b50\u4e2d\uff0c\u53d1\u80b2\u901f\u5ea6\u6b63\u5e38\uff0c\u5b66\u4e60\u6210\u7ee9\u826f\u597d\uff0c\u5e76\u6210\u957f\u4e3a\u6210\u5e74\u4eba\uff0c\u5982\u671f\u5c65\u884c\u5176\u793e\u4f1a\u89d2\u8272\u3002 \u8fd8\u6709\u4e00\u4e9b\u4eba\u5728\u8fbe\u5230\u53d1\u5c55\u65b9\u9762\u6bd4\u8f83\u7f13\u6162\uff0c\u5728\u5b66\u6821\u9700\u8981\u989d\u5916\u7684\u5e2e\u52a9\uff0c\u9700\u8981\u7279\u6b8a\u7684\u5b66\u6821\u6559\u80b2\u3002 \u8fd9\u610f\u5473\u7740\u5e94\u4ed4\u7ec6\u76d1\u6d4b\u6709\u90e8\u5206\u91cd\u590d\u7684\u5a74\u513f\u548c\u513f\u7ae5\uff0c\u4ee5\u786e\u4fdd\u4ed6\u4eec\u4e0d\u4f1a\u843d\u540e\uff0c\u5e76\u5e94\u53ca\u65f6\u63d0\u4f9b\u989d\u5916\u7684\u5e2e\u52a9\u548c\u6cbb\u7597\u3002<br>\u90e8\u5206\u91cd\u590d\u7684\u5b58\u5728\uff0c\u5e76\u4e0d\u80fd\u9884\u6d4b\u8f7b\u5ea6\u6216\u660e\u663e\u7684\u53d1\u80b2\u5ef6\u8fdf\u6216\u5b66\u4e60\u56f0\u96be\u3002 \u8fd9\u4e2a\u5149\u8c31\u5305\u62ec\u6ca1\u6709\u660e\u663e\u95ee\u9898\u7684\u4eba\u548c\u53d7\u5230\u4e25\u91cd\u5f71\u54cd\u7684\u4eba\u3002 \u7814\u7a76\u4eba\u5458\u53d1\u73b0\uff0c\u8fd9\u79cd\u5ef6\u8fdf\u901a\u5e38\u662f\u8f7b\u5ea6\u6216\u4e2d\u5ea6\u7684(Mefford 2008; Aldinger 2009; Unique)\u3002<\/p>\n\n\n\n<p>\u5728\u72ec\u7279\u7684\u6210\u5458\u4e2d\uff0c\u53d1\u80b2\u8fdf\u7f13\u7684\u7a0b\u5ea6\u4ece\u65e0\u5230\u6709\u3002 \u5a74\u5e7c\u513f\u5728\u8fbe\u5230\u53d1\u80b2\u91cc\u7a0b\u7891(\u5750\u3001\u722c\u884c\u3001\u8d70)\u65b9\u9762\u53ef\u80fd\u6bd4\u8f83\u7f13\u6162\uff0c\u5728\u7ec6\u5fae\u7684\u8fd0\u52a8\u63a7\u5236\u3001\u5982\u5395\u8bad\u7ec3\u548c\u4e2a\u4eba\u62a4\u7406\u6280\u80fd(\u7a7f\u8131\u8863\u670d\u3001\u81ea\u98df\u3001\u6e05\u6d17)\u65b9\u9762\u4e5f\u53ef\u80fd\u51fa\u73b0\u5ef6\u8fdf\u3002<br>\u5728\u770b\u8d77\u6765\u6ca1\u6709\u53d7\u5230\u90e8\u5206\u91cd\u590d\u5f71\u54cd\u7684\u6210\u4eba\u4e2d\uff0c\u53ef\u80fd\u4f1a\u51fa\u73b0\u7ec6\u5fae\u7684\u4f53\u5f81\u3002<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u826f\u597d\u7684\u624b\u6307\u7075\u6d3b\u6027\u3002<br><em> &#8211; 3<\/em>\u5c81<\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u975e\u5e38\u7c97\u5fc3\u7684\u624b\u3002\u4e0d\u64c5\u957f\u5904\u7406\u5c0f\u7684\u7269\u4ef6\u3002<br><em> &#8211; \u60a3\u67091q21.1\u90e8\u5206\u91cd\u590d\u7684\u6210\u4eba<\/em><\/p>\n<\/blockquote>\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<h4 class=\"wp-block-heading\">\u81ea\u95ed\u75c7\u6216\u7c7b\u4f3c\u81ea\u95ed\u75c7\u884c\u4e3a\u7684\u98ce\u9669\u589e\u52a0\u52a0<\/h4>\n\n\n\n<p>\u60a3\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u7684\u90e8\u5206\u91cd\u590d<\/a>\u7684\u513f\u7ae5\u548c\u6210\u4eba\u53ef\u4ee5\u5f88\u6709\u4eb2\u548c\u529b\uff0c\u89c1\u9762\u65f6\u6ca1\u6709\u884c\u4e3a\u95ee\u9898\u3002\u4f46\u662f\uff0c\u8fd9\u4e9b\u5c11\u6570\u7fa4\u4f53\uff0c\u53ef\u80fd\u9762\u4e34\u4e00\u7cfb\u5217\u884c\u4e3a\u969c\u788d\u548c\u7c7b\u4f3c\u81ea\u95ed\u75c7\u884c\u4e3a\u7684\u98ce\u9669\u3002\u7136\u800c\uff0c\u76ee\u524d\u8fd8\u4e0d\u77e5\u9053\u8fd9\u4e9b\u5f02\u5e38\u884c\u4e3a\u662f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u7684\u90e8\u5206\u91cd\u590d<\/a>\u8fd8\u662f\u5076\u7136\u5173\u8054\u7684\u7ed3\u679c\u3002\u57281\u4e2a\u7cfb\u5217\u7684\u533b\u5b66\u6587\u732e\u4e2d\uff0c8\u540d\u513f\u7ae5\u4e2d\u67094\u540d\u88ab\u8bca\u65ad\u4e3a\u81ea\u95ed\u75c7\uff0c1\u540d\u8868\u73b0\u51fa\u6311\u6218\u6027\u884c\u4e3a\uff1b\u5728\u53e61\u4e2a\u7cfb\u5217\u768424\u540d\u513f\u7ae5\u4e2d\uff0c2\u540d\u6709\u81ea\u95ed\u75c7\u6216\u81ea\u95ed\u75c7\u7279\u5f81\uff1b1\u540d\u6709\u6ce8\u610f\u529b\u7f3a\u9677\u591a\u52a8\u75c7\uff0c1\u540d\u6709\u60c5\u7eea\u969c\u788d\u3002(Brunetti-Pierri 2008; Mefford 2008; Aldinger 2009)\u3002<br>\u5728\u8fd9\u4e9b\u56fa\u6709\u7684\u6210\u5458\u4e2d\uff0c11\u4eba\u4e2d\u67093\u4eba\u88ab\u8bca\u65ad\u51fa\u60a3\u6709\u81ea\u95ed\u75c7\u6216\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u3002\u5bb6\u5c5e\u6ce8\u610f\u5230\u7684\u5176\u4ed6\u7279\u5f81\uff0c\u5305\u62ec\u96be\u4ee5\u4e0e\u5176\u4ed6\u513f\u7ae5\u76f8\u5904\uff0c\u53ef\u80fd\u662f\u7531\u4e8e\u884c\u4e3a\u4e0d\u53ef\u9884\u6d4b\uff0c\u660e\u663e\u504f\u7231\u6210\u4eba\uff084\u540d\u513f\u7ae5\uff0c1\u540d3\u5c81\u513f\u7ae5\uff0c1\u540d3\u5c81\u513f\u7ae5\uff09\uff0c\u8fd8\u6709\u5c16\u53eb\uff0c\u75b2\u5026\u548c\u4e0e\u766b\u75eb\u6709\u5173\u7684\u60c5\u7eea\u6ce2\u52a8\uff083\u5c81\uff09\u3002 \u53e6\u5916\uff0c\u57281\u4e2a\u63a5\u8fd1\u516d\u5c81\u7684\u5b69\u5b50\u8eab\u4e0a\uff0c\u4e5f\u89c2\u5bdf\u5230\u4e86\u6709\u4e9b\u50f5\u5316\u7684\u601d\u7ef4\u548c\u884c\u4e3a\u3001\u4e0d\u9002\u5f53\u7684\u53cb\u8c0a\u548c\u7126\u8651\u3002\u67092\u4e2a\u5b69\u5b50\u88ab\u62a5\u544a\u8bf4\u9700\u8981\u5927\u91cf\u7684\u611f\u5b98\u523a\u6fc0\u30021\u4f4d\u6210\u5e74\u4eba\u7684\u62a5\u544a\u8bf4\u66fe\u56e0\u300c\u6124\u6012\u95ee\u9898\u300d\u5bfb\u6c42\u54a8\u8be2\u3002<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u611f\u60c5\u4e30\u5bcc\uff0c\u559c\u6b22\u62e5\u62b1\uff0c\u6709\u4e00\u4e2a\u7f8e\u4e3d\u7684\u5fae\u7b11\uff0c\u751c\u7f8e\u800c\u6e29\u67d4<em>\u3002<\/em><br><em> &#8211; 2<\/em>\u5c81<\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u5728\u65e5\u5e38\u751f\u6d3b\u4e2d\uff0c\u770b\u8d77\u6765\u5f88\u5f00\u5fc3\uff0c\u5fae\u7b11\u548c\u5927\u7b11\u3002\u7531\u4e8e\u611f\u89c9\u5904\u7406\u969c\u788d\uff0c\u5728\u804c\u4e1a\u6cbb\u7597\u5e08\u7684\u5efa\u8bae\u4e0b\uff0c\u5728\u5b66\u6821\u65f6\u624b\u81c2\u4e0b\u7a7f\u4e86\u4e00\u4ef6\u538b\u7f29\u886c\u886b\uff0c\u767d\u5929\u5219\u7a7f\u4e86\u4e00\u4ef6\u538b\u7f29\u9a6c\u7532\u3002 \u5728\u804c\u4e1a\u6cbb\u7597\u5e08\u7684\u5efa\u8bae\u4e0b\uff0c\u5728\u5b66\u6821\u7684\u624b\u81c2\u4e0b\u7a7f\u4e86\u4e00\u4ef6\u538b\u7f29\u886c\u886b\u3002<br> <em>&#8211; 3<\/em>\u5c81<\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u4ed6\u559c\u6b22\u505a\u4e00\u4e2a\u8ba8\u4eba\u559c\u6b22\u7684\u4eba\u3002 \u5728\u8fd9\u4e2a\u5e74\u9f84\u6bb5\uff0c\u8ba9\u522b\u4eba\u5f00\u5fc3\u5bf9\u4ed6\u6765\u8bf4\u662f\u975e\u5e38\u91cd\u8981\u7684\u3002 \u4ed6\u771f\u7684\u5f88\u8d34\u5fc3\uff0c\u53ef\u4ee5\u8fc5\u901f\u5207\u6362\u5230\u4ee4\u4eba\u611f\u5230\u53ef\u7231\u53ef\u4eb2\u7684\u72b6\u6001\u3002 \u4ed6\u603b\u662f\u60f3\u88ab\u62e5\u62b1\uff0c\u6211\u5fc5\u987b\u629a\u6478\u4ed6\u7684\u5934\u53d1\u3002<br><em> &#8211; 3<\/em>\u5c81<\/p>\n<\/blockquote>\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%A8%8D%E5%BE%AE%E4%B8%8D%E5%AF%BB%E5%B8%B8%E7%9A%84%E9%9D%A2%E9%83%A8%E7%89%B9%E5%BE%81\"><\/span>\u7a0d\u5fae\u4e0d\u5bfb\u5e38\u7684\u9762\u90e8\u7279\u5f81<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u60a3\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u90e8\u5206\u91cd\u590d<\/a>\u7684\u5927\u591a\u6570\u513f\u7ae5\u548c\u6210\u4eba\u770b\u8d77\u6765\u4e0e\u5bb6\u65cf\u7684\u5176\u4ed6\u6210\u5458\u4e00\u6837\u3002 \u53d7\u8fc7\u89c2\u5bdf\u5f02\u5e38\u7279\u5f81\u8bad\u7ec3\u7684\u533b\u751f\uff0c\u53ef\u80fd\u4f1a\u6ce8\u610f\u5230\u5206\u5f00\u7684\u773c\u775b\uff0c\u6216\u7a81\u51fa\u7684\u989d\u5934\uff0c\u4f46\u8fd9\u4e9b\u8ff9\u8c61\u53ef\u80fd\u662f\u5fae\u5999\u7684\uff0c\u5e76\u4e0d\u660e\u663e\u3002 \u5728\u533b\u5b66\u6587\u732e\u4e2d\u62a5\u9053\u7684\u5927\u7ea6\u4e00\u534a\u7684\u75c5\u4f8b\u4e2d\uff0c\u81f3\u5c11\u6ce8\u610f\u5230\u6709\u8f7b\u5fae\u4e0d\u5bfb\u5e38\u7684\u9762\u90e8\u7279\u5f81\u3002 \u53e6\u5916\uff0c\u7236\u6bcd\u8fd8\u8868\u793a\uff0c\u4ed6\u4eec\u7684\u5b69\u5b50\u6709\u4e00\u4e2a\u5bbd\u5927\u7684\u773c\u7a9d\uff08\u7709\u6bdb\u548c\u9f3b\u5b50\u4e0a\u65b9\u7684\u7a7a\u95f4\uff09\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"292\" height=\"389\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-f.jpg\" alt=\"\" class=\"wp-image-18147\"\/><figcaption class=\"wp-element-caption\">\u4e0e\u5176\u4ed6\u5bb6\u5ead\u4e00\u6837\u30012\u4e2a\u6708<\/figcaption><\/figure><\/div>\n\n\n<p>\u4e0e\u5176\u4ed6\u5bb6\u5ead\u4e00\u6837\uff1a2\u4e2a\u6708[1]\uff0c\u7a81\u51fa\u7684\u773c\u775b\u968f\u7740\u5e74\u9f84\u7684\u589e\u957f\u800c\u51cf\u8f7b[1]\uff0c\u5c0f\u9f3b\u5b50[1]\uff0c\u7a81\u51fa\u7684\u773c\u9053\uff08\u6a2a\u8de8\u773c\u7a9d\u7684\u76ae\u80a4\u8936\u76b1\uff09[1]\uff0c\u5bbd\u800c\u5e73\u7684\u9f3b\u6881[1]\uff0c\u4f4e\u8033\u4f4d[1]\uff08Brunetti-Pierri 2008; Mefford 2008; Aldinger 2009; Unique\uff09\u3002<br>\u90e8\u5206\u91cd\u590d\u7684\u6210\u4eba\u548c\u513f\u7ae5\u7684\u7167\u7247\u5e93\u5df2\u7ecf\u51fa\u7248\uff08Brunetti-Pierri 2008\uff09\uff0c\u5e0c\u671b\u5f97\u5230\u5b83\u7684\u5bb6\u5ead\u53ef\u4ee5\u4eceUnique\u83b7\u5f97\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"634\" height=\"818\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-g.jpg\" alt=\"\" class=\"wp-image-18149\"\/><figcaption class=\"wp-element-caption\">4\u5c81<\/figcaption><\/figure><\/div>\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u7f8e\u4e3d\u7684\u8138\u5e9e\uff0c\u6ca1\u6709\u660e\u663e\u7684\u5dee\u5f02\u3002<br><em> &#8211; 2<\/em>\u5c81<\/p>\n<\/blockquote>\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%BF%83%E8%84%8F%E9%97%AE%E9%A2%98\"><\/span>\u5fc3\u810f\u95ee\u9898<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u60a3\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u7684\u90e8\u5206\u91cd\u590d<\/a>\uff0c\u76ee\u524d\u8fd8\u4e0d\u77e5\u9053\u662f\u5426\u4f1a\u6709\u51fa\u751f\u540e\u6709\u5fc3\u810f\u95ee\u9898\u7684\u98ce\u9669\u3002\u4e00\u4e9b\u7814\u7a76\u4eba\u5458\u53d1\u73b0\uff0c\u51fa\u751f\u65f6\u6709\u7ed3\u6784\u6027\u5fc3\u810f\u95ee\u9898\u7684\u5a74\u513f\u6570\u91cf\u9ad8\u4e8e\u9884\u671f\uff0c\u4f46\u4e5f\u6709\u6ca1\u6709\u53d1\u73b0\u7684\u7814\u7a76\u4eba\u5458\u3002\u603b\u7684\u6765\u8bf4\uff0c\u5728\u533b\u5b66\u6587\u732e\u7684\u4e0d\u540c\u7cfb\u5217\u4e2d\uff0c35\u4e2a\u5a74\u513f\u4e2d\u67094\u4e2a\u88ab\u62a5\u9053\u3002\u5176\u4e2d2\u4e2a\u88ab\u53d1\u73b0\u6709\u5fc3\u5ba4\u95f4\u9694\u7f3a\u635f\uff08VSD\uff0c\u89c1\u7b2c9\u9875\uff09\uff0c1\u4e2a\u6709\u5355\u5fc3\u5ba4\uff08\u89c1\u7b2c9\u9875\uff09 (Brunetti-Pierri 2008; Mefford 2008)\u3002\u53e61\u4f4d\u62a5\u544a\u4e86\u4ece\u4ed6\u7236\u4eb2\uff08Brunei 2009\uff09\u90a3\u91cc\u7ee7\u627f\u7684TAR\u533a\u57df\u7684\u90e8\u5206\u91cd\u590d\uff08\u89c1\u7b2c3\u9875\uff09\u3002\u8be5\u60a3\u8005\u6709\u590d\u6742\u7684\u5fc3\u810f\u75be\u75c5\uff0c\u5305\u62ec\u5927\u8840\u7ba1\u8f6c\u4f4d\u3001VSD\u3001\u80ba\u52a8\u8109\u72ed\u7a84\u548c\u53f3\u5fc3\u5ba4\u53d1\u80b2\u4e0d\u826f\uff08\u89c1\u4e0b\u6587\u7b2c9\u9875\uff09\u3002<br>\u5728Unique\u7684\u6210\u5458\u4e2d\uff0c7\/31\u51fa\u751f\u65f6\u6709\u5fc3\u810f\u7f3a\u9677\uff0c\u5305\u62ec3\u4e2aVSD\uff0c1\u4e2a\u80ba\u52a8\u8109\u72ed\u7a84\uff0c1\u4e2a\u80ba\u9759\u8109\u72ed\u7a84\uff0c1\u4e2a\u4e0d\u660e\u539f\u56e0\u7684\u5fc3\u810f\u5b54\u81ea\u53d1\u963b\u585e\uff0c\u4ee5\u53ca1\u4e2a\u4e0d\u660e\u539f\u56e0\u7684\u6162\u6027\u5fc3\u810f\u8870\u7aed\u30022\u4e2a\u5a74\u513f\u51fa\u751f\u65f6\u60a3\u6709\u6cd5\u6d1b\u6c0f\u56db\u8054\u75c7[ToF]\u30027\u4eba\u4e2d\u67095\u4eba\u9700\u8981\u624b\u672f\u6765\u6539\u5584\u4ed6\u4eec\u7684\u5fc3\u810f\u95ee\u9898\uff08Unique\uff09\u3002<br>\u5728\u4e00\u9879\u5173\u4e8eToF\u7684\u7814\u7a76\u4e2d\uff0c\u51e0\u4e4e\u6bcf100\u4e2a\u5a74\u513f\u4e2d\u5c31\u67091\u4e2a\u60a3\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u7684\u90e8\u5206\u91cd\u590d(4\/512)\u6216\u90e8\u5206\u7f3a\u5931(1\/512)<\/a>\u8fd9\u4e00\u6bd4\u7387\u8fdc\u8fdc\u9ad8\u4e8e\u5076\u7136\u7684\u9884\u671f\u3002\u8fd9\u4e9b\u65b0\u751f\u513f\u6709\u5fc3\u810f\u7f3a\u9677\uff0c\u4f46\u6ca1\u6709\u8ba4\u77e5\u3001\u793e\u4f1a\u6216\u795e\u7ecf\u7cfb\u7edf\u95ee\u9898\uff08Greenway 2009\uff09\u3002\u57282\u4e2a\u72ec\u7279\u7684ToF\u513f\u7ae5\u4e2d\uff0c1\u4e2a\u6709\u4e2d\u5ea6\u5230\u4e25\u91cd\u7684\u53d1\u80b2\u8fdf\u7f13\uff0c\u53e61\u4e2a\u592a\u5c0f\uff0c\u65e0\u6cd5\u8bc4\u4f30\uff08Unique\uff09\u3002<br>\u5df2\u53d1\u73b01\u4e2a\u53ef\u80fd\u5bfc\u81f4\u5fc3\u810f\u95ee\u9898\u7684\u57fa\u56e0\uff08\u89c11q21.1\u5904\u7684\u90e8\u5206\u57fa\u56e0\uff0c\u7b2c19\u9875\uff09\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"714\" height=\"721\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-h.jpg\" alt=\"\" class=\"wp-image-18151\"\/><\/figure><\/div>\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u5fc3\u810f\u624b\u672f\u540e\u7684\u5065\u5eb7\u4e86\u3002<br><em> &#8211; 3<\/em>\u5c81<\/p>\n<\/blockquote>\n\n\n\n<p>\u4e2a\u522b\u513f\u7ae5\u53ef\u80fd\u6709\u5355\u4e00\u6216\u591a\u4e2a\u5fc3\u810f\u95ee\u9898\u88ab\u8bca\u65ad\u51fa\u6765\u3002 \u4ed6\u4eec\u7684\u60c5\u51b5\u5982\u4e0b\u3002<\/p>\n\n\n\n<p><strong>\u5fc3\u5ba4\u95f4\u9694\u7f3a\u635f<\/strong>(VSD) &#8211; \u5fc3\u810f\u76842\u4e2a\u6cf5\u5ba4\uff08\u5fc3\u5ba4\uff09\u4e4b\u95f4\u7684\u58c1\u4e0a\u6709\u6d1e\u3002\u8fd9\u4f7f\u5f97\u8840\u6db2\u4ece\u5de6\u5fc3\u5ba4\u6d41\u5411\u53f3\u5fc3\u5ba4\uff0c\u5e76\u589e\u52a0\u6d41\u5411\u80ba\u90e8\u7684\u8840\u6db2\u3002\u6cbb\u7597\u662f\u6839\u636e\u4e2a\u4eba\u60c5\u51b5\u51b3\u5b9a\u7684\u3002\u5c0f\u7684VSD\u53ef\u80fd\u4f1a\u81ea\u52a8\u5173\u95ed\uff0c\u800c\u8f83\u5927\u7684VSD\u901a\u5e38\u9700\u8981\u624b\u672f\u4fee\u590d\uff0c\u4ee5\u9632\u6b62\u56e0\u8840\u6d41\u8fc7\u591a\u800c\u9020\u6210\u80ba\u90e8\u635f\u4f24\u3002<\/p>\n\n\n\n<p><strong>\u5927\u8840\u7ba1\u79fb\u4f4d<\/strong> : \u4ece\u5fc3\u810f\u5ef6\u4f38\u51fa\u6765\u7684\u4e3b\u8981\u8840\u7ba1\uff08\u4e3b\u52a8\u8109\u548c\u80ba\u52a8\u8109\uff09\u5012\u7f6e\u7684\u60c5\u51b5\u3002\u6709\u8fd9\u79cd\u60c5\u51b5\u7684\u5a74\u513f\uff0c\u901a\u5e38\u5728\u51fa\u751f\u540e\u4e0d\u4e45\u5c31\u9700\u8981\u8fdb\u884c\u624b\u672f\u3002<\/p>\n\n\n\n<p><strong><strong>\u80ba\u52a8\u8109\u72ed\u7a84\u75c7<\/strong><\/strong>: \u8f93\u9001\u8840\u6db2\u5230\u80ba\u90e8\u7684\u52a8\u8109\u5165\u53e3\u5f02\u5e38\u72ed\u7a84\u3002\u8fd9\u79cd\u72ed\u7a84\u901a\u5e38\u5f71\u54cd\u5230\u80ba\u52a8\u8109\u74e3\u548c\u80ba\u52a8\u8109\u672c\u8eab\u3002<\/p>\n\n\n\n<p><strong>\u80ba\u9759\u8109\u72ed\u7a84\u75c7<\/strong> : \u5c06\u5bcc\u542b\u6c27\u6c14\u7684\u8840\u6db2\u4ece\u80ba\u90e8\u56de\u6d41\u5230\u5fc3\u810f\u7684\u8840\u7ba1\u53d1\u751f\u963b\u585e\uff08\u5835\u585e\uff09\u7684\u60c5\u51b5\u3002\u53ef\u4ee5\u53ea\u53d1\u751f\u57281\u6761\u80ba\u9759\u8109\uff0c\u4f46\u5e38\u5e38\u540c\u65f6\u53d1\u751f\u5728\u591a\u6761\u9759\u8109\u4e0a\u3002 \u5835\u585e\u7684\u539f\u56e0\uff0c\u662f\u7531\u9759\u8109\u58c1\u7684\u589e\u539a\u5f15\u8d77\u7684\u3002 \u6269\u5927\u80ba\u9759\u8109\u7684\u624b\u672f\u901a\u5e38\u662f\u4e00\u4e2a\u77ed\u671f\u89e3\u51b3\u65b9\u6848\u3002<\/p>\n\n\n\n<p><strong>\u6cd5\u6d1b\u6c0f\u56db\u8054\u75c7<\/strong> : \u4e00\u79cd\u590d\u6742\u7684\u5fc3\u810f\u75be\u75c5\uff0c\u540c\u65f6\u6d89\u53caVSD\u548c\u901a\u5f80\u80ba\u90e8\u7684\u52a8\u8109\u74e3\u4e0b\u65b9\u7684\u963b\u585e\u3002\u84dd\u8840\uff08\u8131\u6c27\u8840\uff09\u4e0d\u5bb9\u6613\u88ab\u5438\u6c27\u8fdb\u5165\u80ba\u90e8\uff0c\u90e8\u5206\u8840\u6db2\u901a\u8fc7\u4e00\u4e2a\u5b54\u6d41\u5165\u53e6\u4e00\u4e2a\u6cf5\u5ba4\uff0c\u4ece\u90a3\u91cc\u88ab\u6cf5\u51fa\u5230\u4f53\u5185\u3002\u5728\u6ca1\u6709\u5176\u4ed6\u98ce\u9669\u56e0\u7d20\u7684\u60c5\u51b5\u4e0b\uff0c95%\u4ee5\u4e0a\u7684\u6cd5\u6d1b\u6c0f\u56db\u8054\u75c7\u5a74\u513f\u5728\u51fa\u751f\u540e\u7b2c1\u5e74\u5185\u6210\u529f\u63a5\u53d7\u4e86\u624b\u672f\u3002<\/p>\n\n\n\n<p><strong>\u5355\u5fc3\u5ba4\u5fc3\u810f <\/strong>: \u6307\u7684\u662f\u6ca1\u67092\u4e2a\u5fc3\u5ba4\uff0c\u53ea\u67091\u4e2a\u5fc3\u5ba4\uff08\u5fc3\u810f\u7684\u4e0b\u90e8\uff0c\u6cf5\u5ba4\uff09\uff0c\u5c3d\u7ba1\u5728\u5b9e\u9645\u4e2d\u8fd9\u79cd\u60c5\u51b5\u5f88\u5c11\u3002\u66f4\u7b3c\u7edf\u5730\u8bf4\uff0c\u300c\u5355\u5fc3\u5ba4\u6027\u5fc3\u810f\u300d\u8fd9\u79cd\u7528\u8bed\uff0c\u662f\u6307\u8fd9\u6837\u4e00\u79cd\u5fc3\u810f\uff1a\u6765\u81ea\u4e0a\u90e82\u4e2a\u5fc3\u8154[\u5fc3\u623f]\u7684\u8840\u6db2\uff0c\u901a\u8fc7\u4e0d\u826f\u8fde\u63a5\u6d41\u5165\u5360\u4f18\u52bf\u7684\u53f3\u4e0b\u6216\u5de6\u4e0b\u5fc3\u8154[\u5fc3\u5ba4]\u3002\u53e6\u4e00\u79cd\u63cf\u8ff0\u65b9\u5f0f\u662f\uff0c\u53cc\u5165\u5ba4\u7684\u5fc3\u5ba4\u3002\u901a\u5e38\u60c5\u51b5\u4e0b\uff0c\u4f1a\u6709\u4e00\u4e2a\u975e\u4f18\u52bf\u7684\u3001\u53d1\u80b2\u4e0d\u5168\u7684\u7b2c\u4e8c\u8111\u5ba4\u3002\u5355\u5fc3\u5ba4\u6027\u5fc3\u810f\uff0c\u901a\u5e38\u9700\u8981\u5916\u79d1\u624b\u672f\u4fee\u590d\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%85%B6%E4%BB%96%E7%89%B9%E5%BE%81-2\"><\/span>\u5176\u4ed6\u7279\u5f81<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u2981 <strong>\u53d1\u4f5c<\/strong><br>\u5728\u533b\u5b66\u6587\u732e\u4e2d\uff0c35\u540d\u513f\u7ae5\u4e2d\u67095\u4eba\u505a\u51fa\u4e86\u62a5\u544a\uff0c\u572811\u540dUnique\u7684\u6210\u5458\u4e2d\uff0c\u67094\u4eba\u505a\u51fa\u4e86\u62a5\u544a\u3002\u5728Unique\u7684\u6210\u5458\u4e2d\uff0c\u300c\u65f7\u8bfe\u300d\u6216\u53d1\u4f5c\u5f00\u59cb\u4e8e\u513f\u7ae5\u65e9\u671f\u81f3\u4e2d\u671f\u3002\u636e\u62a5\u9053\uff0c\u53ef\u4ee5\u7528\u6807\u51c6\u7684\u6297\u766b\u75eb\u836f\u7269\u5982\u4e19\u620a\u9178\u94a0(Brunetti-Pierri 2008; Mefford 2008; Unique)\u6765\u63a7\u5236\u3002 <\/p>\n\n\n\n<p>\u2981<strong> \u810a\u67f1\u5f2f\u66f2<\/strong><br>\u533b\u5b66\u6587\u732e\u4e2d\u62a5\u9053\u4e86\u4e00\u7cfb\u521724\u4f8b\u810a\u67f1\u4fa7\u5f2f\uff08\u810a\u67f1\u4fa7\u5f2f\u75c7\uff09\u7684\u75c5\u4f8b\uff08Brunetti-Pierri\uff0c2008\uff09\u3002\u5728Unique\u4e2d\uff0c10\u4e2a\u75c5\u4f8b\u4e2d\u76844\u4e2a\u548c2\u4e2a\u539f\u672c\u5065\u5eb7\u7684\u6210\u5e74\u4eba\u88ab\u62a5\u544a\u3002\u4e00\u4e2a2\u5c81\u7684\u5a74\u513f\u57286\u4e2a\u6708\u65f6\u51fa\u73b0\u5f2f\u66f2\uff0c\u52302\u5c81\u65f6\u6d4b\u91cf\u4e3a30\u00b0\uff0c\u7528\u652f\u5177\u6cbb\u7597\u3002 <br>\u4e00\u540d10\u51e0\u5c81\u7684\u9752\u5c11\u5e74\u5728\u6210\u957f\u8fc7\u7a0b\u4e2d\u51fa\u73b0\u4e86\u4e25\u91cd\u7684\u810a\u67f1\u4fa7\u5f2f\u30022\u540d\u6210\u5e74\u4eba\u62a5\u544a\u4e86\u4e00\u4e9b\u8f7b\u5fae\u75c7\u72b6\u3002<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u53c2\u519b\u65f6\uff0c\u533b\u751f\u544a\u8bc9\u6211\uff0c\u6211\u7684\u810a\u67f1\u6709\u70b9\u6b6a\uff0c\u4f46\u4e0d\u5f71\u54cd\u6211\u670d\u5175\u5f79\u3002 \u8fd9\u4e0d\u662f\u4ec0\u4e48\u5927\u95ee\u9898\u3002<br><em> &#8211; \u6210\u4eba<\/em><\/p>\n<\/blockquote>\n\n\n\n<p>\u2981 <strong>\u8f7b\u5ea6\u751f\u6b96\u5668\u7578\u5f62<\/strong><br>\u5728\u533b\u5b66\u6587\u732e\u4e2d\uff0c27\u4e2a\u75c5\u4f8b\u4e2d\u67093\u4e2a\u62a5\u544a\u4e86\u8f7b\u5fae\u7684\u751f\u6b96\u5668\u5f02\u5e38\uff0c\u5305\u62ec\u5c3f\u9053\u4e0b\u88c2\uff08\u5728\u9634\u830e\u7684\u4e0b\u9762\u800c\u4e0d\u662f\u9876\u7aef\u6709\u4e00\u4e2a\u6d1e\uff09\u548c\u4e00\u4e2a\u51fa\u751f\u65f6\u4fdd\u7559\u7684\u777e\u4e38\u3002\u5982\u679c\u6709\u5fc5\u8981\uff0c\u6240\u6709\u8fd9\u4e9b\u5f02\u5e38\u90fd\u53ef\u4ee5\u901a\u8fc7\u624b\u672f\u7ea0\u6b63\uff08Brunetti-Pierri\uff0c2008\u5e74\uff1bMefford\uff0c2008\u5e74\uff09\u3002\u5728\u8fd99\u4e2a\u75c5\u4f8b\u4e2d\uff0c\u67091\u4e2a\u51fa\u751f\u65f6\u4fdd\u7559\u4e86\u777e\u4e38\uff0c\u53e61\u4e2a\u662f\u6a21\u7cca\u7684\u751f\u6b96\u5668\u3002\u8fd92\u4e2a\u75c5\u4f8b\u90fd\u9700\u8981\u624b\u672f\uff08Unique\uff09\u3002<\/p>\n\n\n\n<p>\u2981 <strong>\u5176\u4ed6\u5148\u5929\u6027\u7578\u5f62\u7684\u98ce\u9669\u589e\u52a0<\/strong><br>\u8fd8\u89c2\u5bdf\u5230\u5176\u4ed6\u8f7b\u5fae\u6216\u66f4\u4e25\u91cd\u7684\u5148\u5929\u6027\u7f3a\u9677\uff0c\u4f46\u8fd9\u4e9b\u7f3a\u9677\u4f3c\u4e4e\u5e76\u4e0d\u9075\u5faa\u4e00\u79cd\u6a21\u5f0f\uff0c\u76ee\u524d\u8fd8\u4e0d\u6e05\u695a\u662f\u5426\u4e0e1q21.1\u7684\u90e8\u5206\u91cd\u590d\u6709\u56e0\u679c\u5173\u7cfb\u3002\u533b\u5b66\u6587\u732e\u4e2d\u7684\u62a5\u544a\uff0c\u5305\u62ec\u810a\u67f1\u5e95\u90e8\u7684\u5c0f\u9ab6\u9aa8\u51f9\u9677[1]\uff1b\u534a\u690e\u9aa8\uff08\u690e\u9aa8\u4e00\u4fa7\u53d1\u80b2\u4e0d\u5168\uff0c\u5bfc\u81f4\u6954\u5f62\uff09[1]\uff1b\u5f1b\u7f13\u6027\u5173\u8282\u677e\u5f1b\u6216\u8131\u4f4d[2]\uff1b\u51fa\u751f\u65f6\u591a\u53d1\u5173\u8282\u631b\u7f29\u75c7\uff08\u5173\u8282\u631b\u7f29\u75c7\uff09[1]\uff1b\u5185\u7ffb\u8db3[1]\uff1bBrunetti-Pierri 2008\uff1bMefford 2008 )\uff0c\u7b49\u7b49\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%87%BA%E7%94%9F%E6%97%B6\"><\/span>\u51fa\u751f\u65f6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5927\u591a\u6570\u56fa\u6709\u7684\u5bb6\u5ead\u62a5\u544a\u8bf4\u6000\u5b55\u6b63\u5e38\uff0c9\u4eba\u4e2d\u67091\u4eba\u62a5\u544a\u8bf4\u6ce8\u610f\u5230\u80ce\u513f\u7f3a\u4e4f\u80ce\u52a8\u3002\u5728\u51fa\u751f\u65f6\u6216\u63a5\u8fd1\u51fa\u751f\u65f6\uff0c\u51fa\u751f\u7684\u5b69\u5b50\u4f53\u683c\u90fd\u5f88\u597d\uff0c\u572835\u5468\u65f6\u5f15\u4ea7\u7684\u5148\u5146\u5b50\u75eb\u60a3\u513f\u67092.69\u516c\u65a4\uff085\u78c5\/15\u76ce\u53f8\uff09\uff0c\u8db3\u6708\u5a74\u513f\u67094.36\u516c\u65a4\uff089\u78c5\/10\u76ce\u53f8\uff09\u3002\u5927\u591a\u6570\u65b0\u751f\u513f\u662f\u5065\u5eb7\u7684\uff0c\u4f46\u6709\u4e00\u4e2a35\u5468\u51fa\u751f\u7684\u65b0\u751f\u513f\u6709\u9ec4\u75b8\u3002\u5c3d\u7ba1\u6709\u826f\u597d\u7684\u51fa\u751f\u4f53\u91cd\u548cApgar\u8bc4\u5206\uff08\u8861\u91cf\u51fa\u751f\u65f6\u5065\u5eb7\u72b6\u51b5\u7684\u6807\u51c6\uff09\uff0c\u4f46\u4ed6\u770b\u8d77\u6765\u548c\u884c\u4e3a\u90fd\u50cf1\u4e2a\u7ea2\u76ae\u80a4\u7684\u65e9\u4ea7\u513f\u3002 \u4ed6\u7684\u76ae\u80a4\u53d1\u7ea2\uff0c\u7761\u5f97\u5f88\u591a\uff0c\u9192\u6765\u5582\u98df\uff0c\u5e76\u52aa\u529b\u4fdd\u6301\u4f53\u6e29\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"389\" height=\"292\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-i.jpg\" alt=\"\" class=\"wp-image-18153\"\/><figcaption class=\"wp-element-caption\">\u51fa\u751f\u7b2c2\u5929<\/figcaption><\/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%85%B3%E4%BA%8E%E5%96%82%E5%85%BB\"><\/span>\u5173\u4e8e\u5582\u517b<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u57289\u4f4dUnique\u7684\u6210\u5458\u4e2d\uff0c\u67095\u4f4d\u6ca1\u6709\u5582\u517b\u56f0\u96be\u5e76\u6210\u529f\u6bcd\u4e73\u5582\u517b\u3002\u67091\u540d\u6bcd\u4e73\u5582\u517b\u7684\u5a74\u513f\u4ecd\u7136\u4f53\u91cd\u4e0d\u8db3\u30021\u540d\u60a3\u6709\u5934\u9aa8\u878d\u5408\u75c7\u7684\u65b0\u751f\u513f\u88ab\u7ba1\u99722\u5468\uff0c\u4f46\u5728\u7b2c3\u5468\u88ab\u4eba\u5de5\u5582\u517b\u3002\u8868\u73b0\u5f97\u50cf\u65e9\u4ea7\u513f\u7684\u5a74\u513f\u4e00\u6837\u8eab\u4f53\u865a\u5f31\uff0c\u7f3a\u4e4f\u5438\u542e\u7684\u5fc5\u8981\u53cd\u5e94\u3002<br>\u4ed6\u88ab\u7528\u54fa\u4e73\u676f\u5582\u98df\uff0c\u6bcf2\u4e2a\u5c0f\u65f6\u9192\u67651\u6b21\u3002 2\u5468\u540e\uff0c\u591c\u95f4\u5582\u98df\u4e4b\u95f4\u7684\u95f4\u9694\u53d8\u957f\u4e86\u3002 7 \u5468\u540e\uff0c\u4ed6\u8db3\u591f\u5f3a\u58ee\uff0c\u53ef\u4ee5\u5f00\u59cb\u6bcd\u4e73\u5582\u517b\u5e76\u6301\u7eed\u4e862\u5e74\u3002\u4ed6\u559d\u5176\u4ed6\u996e\u6599\u8fdf\u5230\u4e86\uff0c\u4f46\u57282\u70b9\u8bb0\u4f4f\u4e86\u7528\u676f\u5b50\u559d\u6c34\u3002\u5c3d\u7ba1\u5f00\u5c40\u8270\u96be\uff0c\u4f46\u4ed6\u5bf9\u6700\u540e\u7684\u56fa\u4f53\u53cd\u5e94\u5f88\u70ed\u60c5\u3002<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u4ed6\u662f\u4e00\u4e2a\u5403\u996d\u5f88\u597d\u7684\u5b69\u5b50\u3002\u5927\u7ea68\u4e2a\u6708\u5f00\u59cb\u5403\u6b63\u7ecf\u7684\u996d\u83dc\uff0c\u4f46\u4ed6\u5403\u5f97\u975e\u5e38\u70ed\u60c5\u3002\u4f1a\u5403\u4efb\u4f55\u4e1c\u897f\uff0c\u800c\u4e14\u5f88\u591a\u3002\u548c\u5976\u5976\u5403\u7684\u4e00\u6837\u591a\uff0c\u6240\u4ee5\u6709\u65f6\u6211\u4e0d\u5f97\u4e0d\u62d2\u7edd\u3002\u73b0\u5728\u4ed6\u5403\u6b63\u5e38\u91cf\u5e76\u4e14\u505a\u5f97\u5f88\u597d\u3002<br><em> &#8211; \u5feb3\u5c81<\/em><\/p>\n<\/blockquote>\n\n\n\n<p>\u4e00\u4e2a\u5b69\u5b50\uff0c\u5403\u5f97\u5f88\u591a\uff0c\u56e0\u4e3a\u53d1\u73b0\u5f88\u96be\u64cd\u4f5c\u9910\u5177\u5e76\u4e14\u66f4\u559c\u6b22\u7528\u624b\u3002\u6709\u4e9b\u5b69\u5b50\uff0c\u751a\u81f3\u5728 6 \u5c81\u65f6\u5c31\u975e\u5e38\u6311\u98df\uff0c\u62d2\u7edd\u6c34\u679c\u9178\u5976\u7b49\u6210\u5757\u7684\u98df\u7269\u3002<br>\u4e24\u540dUnique\u7684\u6210\u5458\uff0c\u62a5\u544a\u4e86\u80c3\u98df\u7ba1\u53cd\u6d41\u75c5\u3002\u80c3\u98df\u7ba1\u53cd\u6d41\u75c5\u662f\u6307\uff0c\u98df\u7269\u56de\u5230\u80c3\u4e2d\uff0c\u5e76\u88ab\u5455\u5410\u6216\u5438\u5165\uff0c\u5bfc\u81f4\u79f0\u4e3a\u5438\u5165\u6027\u80ba\u708e\u7684\u80f8\u90e8\u611f\u67d3\u30021\u4e2a\u662f\u6210\u5e74\u4eba\uff0c\u53e61\u4e2a\u662f6\u5c81\u7684\u5b69\u5b50\uff0c\u524d\u503e\u65f6\u6709\u80c3\u6db2\u6d41\u51fa\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=\"%E6%88%90%E9%95%BF\"><\/span>\u6210\u957f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u533b\u5b66\u6587\u732e\u62a5\u9053\u768427\u4f8b\u4e2d\uff0c22\u4f8b\u751f\u957f\u6b63\u5e38\u30023\u540d\u5a74\u513f\u6216\u513f\u7ae5\u53d1\u80b2\u8fdf\u7f13\uff0c\u751f\u957f\u5f02\u5e38\u7f13\u6162\uff0c1\u540d\u751f\u957f\u4e0d\u5747\u5300\uff0c1\u540d\u9aa8\u9f84\u9ad8\uff08Brunetti-Pierri 2008\uff1bMefford 2008\uff09\u3002\u57289\u540dUnique\u6210\u5458\u4e2d\uff0c\u589e\u957f\u7387\u5e73\u5747\u4e3a4\u540d\uff0c2\u540d\u77ee\u5c0f\uff0c1\u540d\u6d88\u7626\u30022\u4e2a\u5b69\u5b50\u4e2a\u5b50\u9ad8\uff0c1\u4e2a\u7626\u30024\u4e2a\u5bb6\u5ead\u8bc4\u8bba\u8bf4\uff0c\u4ed6\u4eec\u7684\u5b69\u5b50\u4f53\u91cd\u4e0d\u8db3\u6216\u9ad8\u4e8e\u5e73\u5747\u4f53\u91cd\u3002<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u4ed6\u7684\u9aa8\u67b6\u5f88\u539a\uff0c\u522b\u4eba\u628a\u4ed6\u62b1\u8d77\u6765\uff0c\u90fd\u8bf4\u300c\u4ed6\u5f88\u7ed3\u5b9e\u300d\u3002<br><em> &#8211; 3<\/em>\u5c81<\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u8eab\u9ad8\u9ad8\u6216\u77ee\uff0c\u6216\u8005\u5982\u679c\u8bf4\u662f\u5e73\u5747\u6c34\u5e73\uff0c\u6211\u4f1a\u89c9\u5f97\u504f\u77ee\uff0c\u4f46\u5b9e\u9645\u4e0a\u66f4\u82d7\u6761\u3002\u6709\u4e00\u4e2a\u5927\u5934\uff0c\u624b\u81c2\u6709\u70b9\u592a\u77ed\u4e86\u3002\u8eab\u4f53\u5176\u4ed6\u90e8\u4f4d\u6b63\u5e38\u3002\u4e00\u4e24\u5e74\u524d\u770b\u8d77\u6765\u6709\u70b9\u80d6\u80d6\uff0c\u4f46\u73b0\u5728\u7684\u6bd4\u4f8b\u5f88\u597d\u3002<br><em>&#8211; 3<\/em>\u5c81<br><\/p>\n<\/blockquote>\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%81%A5%E5%BA%B7%E5%92%8C%E7%A6%8F%E7%A5%89\"><\/span>\u5065\u5eb7\u548c\u798f\u7949<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u611f\u67d3\u75c7\u5728\u513f\u7ae5\u65f6\u671f\u5f88\u5e38\u89c1\u3002\u5c3d\u7ba1\u6ca1\u6709\u8bc1\u636e\u8868\u660e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u90e8\u5206\u91cd\u590d<\/a>\u7684\u5b69\u5b50\u6bd4\u5176\u4ed6\u5b69\u5b50\u66f4\u5bb9\u6613\u53d7\u5230\u611f\u67d3\uff0c\u4f461\u4e2a\u5bb6\u5ead\u62a5\u544a\u8bf4\uff0c\u4ed6\u4eec3\u5c81\u7684\u513f\u5b50\u5728\u5a74\u513f\u671f\u60a3\u4e0a\u4e86\u5404\u79cd\u6d41\u884c\u6027\u611f\u5192\uff0c\u5e76\u4e14\u60a3\u6709\u8bb8\u591a\u547c\u5438\u9053\u75be\u75c5\u3002\u8fd8\u6709\uff0c\u5728\u53e61\u4e2a\u5bb6\u5ead\uff0c\u5b69\u5b50\u4e0d\u52302\u5c81\uff0c\u5c31\u66fe\u591a\u6b21\u611f\u67d3\u80ba\u708e\u3001\u8111\u819c\u708e\u7b49\u3002\u8fd9\u4e2a\u5bb6\u5ead\u548c\u53e61\u4e2a\u5bb6\u5ead\u62a5\u544a\u8bf4\uff0c\u5f53\u4ed6\u4eec\u7684\u5b69\u5b50\u751f\u75c5\u65f6\uff0c\u4ed6\u4eec\u7684\u5065\u5eb7\u72b6\u51b5\u4f1a\u8fc5\u901f\u6076\u5316\u30022\u540d\u513f\u7ae5\u51fa\u73b0\u54ee\u5598\u6216\u54ee\u5598\u6837\u75c7\u72b6\uff0c1\u540d\u513f\u7ae5\u51fa\u73b0\u7ebf\u7c92\u4f53\u590d\u5408\u4f53IV \u75c7\u72b6\uff0c\u6b63\u5728\u670d\u7528\u8f85\u9176Q10\u3002\u6b64\u5916\uff0c\u8fd8\u62a5\u544a\u4e864\u79cd\u76ae\u80a4\u75c5\uff0c\u5176\u4e2d1\u4f8b\u60a3\u6709\u94f6\u5c51\u75c5\uff0c3\u4f8b\u60a3\u6709\u6e7f\u75b9\u3002\u76ee\u524d\u5c1a\u4e0d\u6e05\u695a\u8fd9\u4e9b\u75c7\u72b6\u662f\u5426\u4e0e1q21.1 \u90e8\u5206\u91cd\u590d\u6709\u5173\u3002\u62a5\u544a\u8bf4\uff0c\u5728\u75be\u75c5\u548c\u75be\u75c5\u4e4b\u95f4\uff0c\u7236\u6bcd\u5e0c\u671b\u5b69\u5b50\u5065\u5eb7\u3001\u5feb\u4e50\u3001\u8fdb\u6b65\u3002\uff08Brunetti-Pierri 2008; Unique\uff09<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u6211\u8ba4\u4e3a\u8fd9\u4e5f\u5bfc\u81f4\u4e86\u4ed6\u7684\u547c\u5438\u95ee\u9898\u3002\u56e0\u4e3a\u4ed6\u4e0d\u80fd\u50cf\u5176\u4ed6\u5b69\u5b50\u90a3\u6837\u5267\u70c8\u54b3\u55fd\uff0c\u6240\u4ee5\u75f0\u6b8b\u7559\u5728\u4ed6\u7684\u80ba\u91cc\u3002<br><em>&#8211; 2<\/em>\u5c81<\/p>\n<\/blockquote>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"265\" height=\"402\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-j.jpg\" alt=\"\" class=\"wp-image-18155\"\/><figcaption class=\"wp-element-caption\">3\u5c81<\/figcaption><\/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%90%AC%E8%A7%89\"><\/span>\u542c\u89c9<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8033\u90e8\u611f\u67d3\u3001\u5728\u60a3\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u7684\u90e8\u5206\u91cd\u590d<\/a>\u7684\u5a74\u5e7c\u513f\u4e2d\u5f88\u5e38\u89c1\u3002\u533b\u5b66\u6587\u732e (Brunetti-Pierri 2008) \u62a5\u9053\u4e8624\u540d\u4e2d\u76841 \u540d\uff0c\u548c9\u540dUnique\u6210\u5458\u4e2d\u76842\u540d\uff0c\u4e3a\u4e86\u5e73\u8861\u9f13\u819c\u4e24\u4fa7\u7684\u538b\u529b\uff0c\u4ed6\u4eec\u90fd\u63d2\u5165\u4e86\u7ba1\u5b50\uff08\u7d22\u73af\uff09\u3002\u6bcf\u4e2a\u5b69\u5b50\u90fd\u6ca1\u6709\u6c38\u4e45\u6027\u542c\u529b\u635f\u5931\uff0c\u4f461\u4e2a\u6709\u611f\u89c9\u969c\u788d\u3001\u5bf9\u5de8\u54cd\u8fc7\u654f\u548c\u5bb3\u6015\u523a\u8033\u7684\u58f0\u97f3\uff08Unique\uff09\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=\"%E8%A7%86%E8%A7%89\"><\/span>\u89c6\u89c9<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5728\u533b\u5b66\u6587\u732e\u62a5\u9053\u768435\u4eba\u4e2d\uff0c\u67094\u4eba\u6709\u4e0d\u540c\u7c7b\u578b\u7684\u89c6\u89c9\u969c\u788d\u30021\u4eba\u6709\u65cb\u8f6c\u773c\u7403\u9707\u98a4\uff08\u4e0d\u81ea\u4e3b\u7684\u773c\u7403\u5706\u5468\u8fd0\u52a8\uff09\uff0c1\u4eba\u6709\u659c\u89c6\uff0c1\u4eba\u6709\u767d\u5185\u969c\uff08\u6676\u72b6\u4f53\u6df7\u6d4a\uff09\uff0c1\u4eba\u6709\u773c\u538b\u5347\u9ad8\uff08\u9752\u5149\u773c\uff09\uff08Brunetti-Pierri 2008; Mefford 2008\uff09\u3002Unique\u6210\u5458\u62a5\u544a\u8bf4\uff0c\u9664\u4e861\u4e2a\u6210\u5e74\u4eba\u572820\u591a\u5c81\u65f6\u610f\u8bc6\u5230\u81ea\u5df1\u6709\u8fdc\u89c6\u5916\uff0c\u53e61\u4e2a\u5b69\u5b50\u53cc\u773c\u90fd\u6709\u6563\u5149\uff0c\u5fc5\u987b\u4ee5\u4e0d\u5bfb\u5e38\u7684\u59ff\u52bf\u89c2\u5bdf\u3002<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u4ed6\u5728\u51fa\u751f\u65f6\u548c\u968f\u540e\u7684\u51e0\u4e2a\u6708\u91cc\u90fd\u6ca1\u6709\u76f4\u89c6\u6211\u4eec\u3002<br>\u4ed6\u751a\u81f3\u4e0d\u80fd\u7528\u773c\u775b\u8ddf\u7740\u6211\u4eec\u8d70\u3002\u6211\u4eec\u572810\u5468\u65f6\u770b\u4e86\u4e00\u4f4d\u773c\u79d1\u533b\u751f\uff0c\u4f46\u4ed6\u627e\u4e0d\u5230\u539f\u56e0\u3002 \u7b2c1\u6b21\u89c1\u5230\u6211\u4eec\u7684\u8138\u662f\u57285\u4e2a\u591a\u6708\u4ee5\u540e\u3002<\/p>\n<\/blockquote>\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%9D%A1%E7%9C%A0\"><\/span>\u7761\u7720<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"389\" height=\"292\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-k.jpg\" alt=\"\" class=\"wp-image-18157\"\/><figcaption class=\"wp-element-caption\">4\u4e2a\u6708\u9f84<\/figcaption><\/figure><\/div>\n\n\n<p>10\u4e2aUnique\u6210\u5458\u4e2d\uff0c\u67095\u4e2a\u62a5\u544a\u8bf4\u6709\u4e00\u4e9b\u7761\u7720\u56f0\u96be\u3002 \u67091\u4e2a\u5a74\u513f\u5728\u6700\u521d4\u4e2a\u6708\u975e\u5e38\u96be\u4ee5\u5165\u7761\u3002 \u6709\u7684\u5b69\u5b50\u975e\u5e38\u4e0d\u5b89\u5206\uff0c\u5728\u7761\u68a6\u4e2d\u4e0d\u65ad\u79fb\u52a8\uff0c\u751a\u81f3\u57286\u5c81\u7684\u65f6\u5019\u4e5f\u662f\u5982\u6b64\u3002 \u6709\u7684\u5b69\u5b50\u96be\u4ee5\u5165\u7761\uff0c\u7ecf\u4ea7\u534a\u591c\u9192\u6765\uff0c\u4f7f\u7528\u58f0\u97f3\u673a\u5668\u6765\u5e2e\u52a9\u4ed6\u5165\u7761\u3002\u6709\u7684\u5b69\u5b50\u6bcf\u5929\u665a\u4e0a\u4ece\u51cc\u66682-3\u70b9\u52306\u70b9\u5de6\u53f3\u4e0d\u7761\u89c9\u3002 \u800c\u6709\u7684\u5b69\u5b50\u5750\u7acb\u4e0d\u5b89\uff0c\u9700\u8981\u5f88\u5c11\u7684\u7761\u7720\u3002\u5c1a\u4e0d\u6e05\u695a\u60a3\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u90e8\u5206\u91cd\u590d<\/a>\u7684\u513f\u7ae5\u662f\u5426\u6bd4\u5176\u4ed6\u513f\u7ae5\u6709\u66f4\u5927\u7684\u7761\u7720\u969c\u788d\uff0c\u6216\u8005\u662f\u5426\u5b58\u5728\u4e0e\u90e8\u5206\u91cd\u590d\u6709\u5173\u7684\u7761\u7720\u969c\u788d\u6a21\u5f0f\uff08Unique\uff09\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%AD%A6%E4%B9%A0\"><\/span>\u5b66\u4e60<br>\f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"294\" height=\"392\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-l.jpg\" alt=\"\" class=\"wp-image-18159\"\/><figcaption class=\"wp-element-caption\">2\u5c81<\/figcaption><\/figure><\/div>\n\n\n<p>\u60a3\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u90e8\u5206\u91cd\u590d<\/a>\u7684\u4eba\uff0c\u5728\u56e0\u5b66\u4e60\u56f0\u96be\u800c\u9700\u8981\u989d\u5916\u5b66\u4e60\u652f\u6301\u7684\u4eba\u4e2d\uff0c11\u4eba\u4e2d\u67098\u4eba\u63cf\u8ff0\u4e3a\u81f3\u5c11\u662f\u8f7b\u5ea6\u6216\u4e2d\u5ea6\u56f0\u96be\uff08Meford 2008\uff09\u3002 Unique\u7684\u7ecf\u9a8c\u53cd\u6620\u4e86\u8fd9\u4e00\u70b9\uff0c\u5176\u6210\u5458\u5177\u6709\u975e\u5e38\u5e7f\u6cdb\u7684\u80fd\u529b\u30021\u4e2a\u6709\u90e8\u5206\u91cd\u590d\u7684\u6210\u5e74\u4eba\u7ecf\u8425\u81ea\u5df1\u7684\u751f\u610f\uff0c\u53e61\u4e2a\u6709\u7855\u58eb\u5b66\u4f4d\u3002 \u5728\u513f\u7ae5\u4e2d\uff0c\u5bf9\u5b66\u4e60\u7684\u5f71\u54cd\u662f\u975e\u5e38\u4e0d\u540c\u7684\u3002 \u4ee5\u4e0b\u8bc4\u8bba\u8bf4\u660e\u4e86\u8fd9\u79cd\u4e30\u5bcc\u7684\u591a\u6837\u6027\u3002<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u5979\u6709\u5f88\u597d\u7684\u8bb0\u5fc6\u529b\uff0c\u7528\u4e00\u81f4\u7684\u65b9\u6cd5\u5b66\u4e60\u6548\u679c\u6700\u597d\u3002 \u5979\u770b\u4e66\uff0c\u4f46\u8fd8\u4e0d\u80fd\u9605\u8bfb\uff0c\u6709\u7b14\u65f6\u5c31\u4e71\u5199\u4e71\u753b\u3002<\/p>\n\n\n\n<p><em>&#8211; 2\u5c81<\/em><\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u6211\u4eec\u4e0d\u8ba4\u4e3a\u4ed6\u6709\u4efb\u4f55\u5b66\u4e60\u56f0\u96be\u6216\u969c\u788d\u3002 \u4ed6\u662f\u4e00\u4e2a\u975e\u5e38\u597d\u7684\u97f3\u4e50\u542c\u4f17\uff0c\u975e\u5e38\u559c\u6b22\u5531\u6b4c\u3002 \u4ed6\u53ef\u4ee5\u81ea\u5df1\u89e3\u51b350\u5757\u7684\u62fc\u56fe\u3002 \u4ed6\u4e0d\u559c\u6b22\u5f04\u810f\u624b\u7684\u4e1c\u897f\uff0c\u5982\u6a61\u76ae\u6ce5\u6216\u6cb9\u6f06\u3002 \u4ed6\u5bf9\u73a9\u5177\u8f66\u548c\u771f\u8f66\u90fd\u5f88\u7740\u8ff7\uff0c\u77e5\u9053\u5e76\u80fd\u6307\u51fa\u51e0\u4e2a\u5236\u9020\u5546\u3002 \u5f53\u4ed6\u73a9\u73a9\u5177\u8f66\u5e76\u770b\u5230\u8f66\u8f6e\u8f6c\u52a8\u65f6\uff0c\u4ed6\u4f1a\u975e\u5e38\u5174\u594b\u3002 \u4ed6\u7684\u8bb0\u5fc6\u529b\u6b63\u5e38\uff0c\u559c\u6b22\u5b66\u4e60\u65b0\u4e8b\u7269\u3002 \u4ed6\u4e0d\u559c\u6b22\u753b\u753b\uff0c\u4f46\u5f53\u4ed6\u753b\u7684\u65f6\u5019\u4f1a\u7528\u94c5\u7b14\u5212\u3002 \u4ed6\u8fd8\u6ca1\u6709\u51c6\u5907\u597d\u4f7f\u7528\u7535\u8111\uff0c\u4f46\u6ca1\u6709\u4efb\u4f55\u95ee\u9898\u3002 \u4ed6\u5c06\u5728\u4e00\u6240\u9488\u5bf9\u6709\u6c9f\u901a\u548c\u81ea\u95ed\u75c7\u95ee\u9898\u7684\u513f\u7ae5\u7684\u7279\u6b8a\u5b66\u6821\u4e0a\u5b66\u3002<br><em> &#8211; 3<\/em>\u5c81<\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u4ed6\u7684\u8bb0\u5fc6\u529b\u5f88\u597d\uff0c\u80fd\u8bb0\u4f4f\u6b4c\u66f2\u7684\u6b4c\u8bcd\uff0c\u4f46\u6709\u65f6\u4e0d\u4f1a\u8bf4\u81ea\u5df1\u7684\u540d\u5b57\u3002 \u5f53\u4ed6\u8def\u8fc7\u4e00\u5bb6\u9910\u9986\u65f6\uff0c\u4ed6\u4f1a\u8bf4\u4ed6\u60f3\u5403\u4ec0\u4e48\u6216\u5728\u90a3\u91cc\u5403\u8fc7\u4ec0\u4e48\uff0c\u4f8b\u5982\u70ed\u72d7\u6216\u9e21\u8089\u3002 \u97f3\u4e50\u662f\u4ed6\u66f4\u64c5\u957f\u7684\u3002 \u8bf4\u5b9e\u8bdd\uff0c\u4ed6\u5f88\u61d2\u60f0\u3002 \u5982\u679c\u4ed6\u5bf9\u6240\u5b66\u7684\u4e1c\u897f\u4e0d\u611f\u5174\u8da3\uff0c\u5c31\u4e0d\u4f1a\u53c2\u4e0e\u3002 \u4ed6\u603b\u662f\u5728\u300c\u9605\u8bfb\u300d\u4e66\u7c4d\u3002 \u4ed6\u770b\u7740\u56fe\u7247\uff0c\u804a\u7740\u4e66\u4e2d\u7684\u5185\u5bb9\u3002 \u4ed6\u4e0d\u559c\u6b22\u753b\u753b\u6216\u6d82\u8272\u3002 \u4ed6\u5bf9\u7535\u8111\u611f\u5174\u8da3\uff0c\u4f46\u5bf9\u952e\u76d8\u4e0d\u611f\u5174\u8da3\u3002 \u4ed6\u5c06\u624b\u653e\u5728\u6210\u4eba\u7684\u9f20\u6807\u4e0a\uff0c\u70b9\u51fb\u4e86\u4e00\u4e0b\u6309\u94ae\u3002 \u4ed6\u5c31\u8bfb\u4e8e\u4e00\u6240\u7279\u6b8a\u9700\u6c42\u5e7c\u513f\u56ed\uff0c\u5e76\u63a5\u53d7\u7279\u6b8a\u9700\u6c42\u8001\u5e08\u7684\u5b66\u4e60\u652f\u63f4\u3002<br><em> &#8211; 3<\/em>\u5c81<\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u5979\u80fd\u6570\u523010\uff0c\u4f46\u4e0d\u80fd\u9605\u8bfb\u3002 \u5979\u53ef\u4ee5\u5199\u81ea\u5df1\u7684\u540d\u5b57\u3002 \u5979\u559c\u6b22\u5728\u5b66\u6821\u4f7f\u7528\u7535\u8111\u3002 \u5979\u5728\u4e00\u6240\u4e3b\u6d41\u5b66\u6821\u53c2\u52a0\u8bed\u8a00\u8bfe\u7a0b\uff0c\u4f46\u6ca1\u6709\u7279\u6b8a\u6559\u80b2\u9700\u6c42\u58f0\u660e\u3002<br><em> &#8211; 5\u5c81\u534a<\/em><\/p>\n<\/blockquote>\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=\"%E4%BA%A4%E6%B5%81\"><\/span>\u4ea4\u6d41<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"660\" height=\"1000\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-m.jpg\" alt=\"\" class=\"wp-image-18161\"\/><figcaption class=\"wp-element-caption\">3\u5c81\u534a<\/figcaption><\/figure><\/div>\n\n\n<p><br>\u5728\u533b\u5b66\u6587\u732e\u4e2d\uff0c\u60a3\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u7684\u90e8\u5206\u91cd\u590d<\/a>(Brunetti-Pierri 2008)\u7684\u513f\u7ae5\u4e2d\uff0c24\u4f8b\u4e2d\u67093\u4f8b\u5b50\u8a00\u80fd\u529b\u5ef6\u8fdf\u7684\u62a5\u9053\u3002\u5728Unique\u7684\u6210\u5458\u4e2d\uff0c\u8a00\u8bed\u548c\u8bed\u8a00\u7684\u5ef6\u8fdf\u662f\u4e00\u4e2a\u4e00\u81f4\u7684\u53d1\u73b0\uff0c\u751a\u81f3\u5728\u6210\u5e74\u4eba\u4e2d\u4e5f\u662f\u5982\u6b64\uff0c\u4ed6\u4eec\u53ea\u8868\u73b0\u51fa\u975e\u5e38\u5fae\u5999\u7684\u8ff9\u8c61\uff0c\u8fd9\u53ef\u80fd\u662f\u7531\u4e8e\u90e8\u5206\u91cd\u590d\u9020\u6210\u7684\u3002\u9891\u7e41\u51fa\u73b0\u7684\u4e3b\u9898\uff0c\u6bd4\u7528\u8bed\u8a00\u8868\u8fbe\u7684\u80fd\u529b\u66f4\u5bb9\u6613\u7406\u89e3\uff0c\u8bf4\u8bdd\u7f3a\u4e4f\u53ef\u7406\u89e3\u6027\u3002\u6709\u7684\u5b69\u5b50\uff0c\u6700\u521d\u80fd\u7528\u624b\u8bed\u6210\u529f\u5730\u4f20\u8fbe\u4ed6\u7684\u9700\u6c42\uff0c\u5728\u513f\u7ae5\u671f\u4e2d\u671f\u5c31\u4f1a\u8bf4\u8bdd\uff0c\u5e76\u5728\u9752\u5c11\u5e74\u65f6\u671f\u5f62\u6210\u4e86\u6d41\u7545\u7684\u8bed\u8a00\u98ce\u683c\u3002\u6709\u65f6\uff0c\u513f\u7ae5\u4f1a\u5728\u58f0\u97f3\u8bed\u8a00\u5355\u4f4d\u63a5\u53d7\u6559\u80b2\uff0c\u91cd\u70b9\u662f\u4ea4\u9645\u80fd\u529b\u3002<\/p>\n\n\n\n<p>\u4e0b\u9762\u7684\u8bf4\u660e\uff0c\u662f\u793a\u4f8b\u3002<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u53d1\u51fa\u58f0\u97f3\u4ea4\u6d41\u3002<br><em> &#8211; 5\u4e2a\u6708<\/em><\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u901a\u8fc7\u624b\u8bed\u3001\u624b\u52bf\u3001\u6307\u5411\u3001\u62c9\u52a8\u548c\u58f0\u97f3\u8fdb\u884c\u4ea4\u6d41\uff0c\u4f46\u96be\u4ee5\u7406\u89e3\u6240\u6709\u7684\u8bed\u8a00\u58f0\u97f3\u3002<br><em> &#8211; 2\u5c815\u4e2a\u6708<\/em><\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u8bd5\u56fe\u8bf4\u8bdd\uff0c\u4f46\u53ef\u80fd\u4e0d\u6e05\u695a\u610f\u601d\u3002 \u5927\u8111\u6240\u60f3\u7684\u548c\u5634\u5df4\u6240\u8bb2\u7684\u4e4b\u95f4\u5b58\u5728\u7740\u95ee\u9898\u3002 \u6839\u636e\u8bed\u8a00\u6cbb\u7597\u5e08\u8fdb\u884c\u7684\u6d4b\u8bd5\uff0c\u4ed6\u6240\u7406\u89e3\u7684\u6bd4\u4ed6\u544a\u8bc9\u6211\u4eec\u6216\u89e3\u91ca\u6e05\u695a\u7684\u8981\u591a\u3002 \u56e0\u6b64\uff0c\u6211\u4eec\u4f7f\u7528\u4e86\u5f88\u591a\u7528 \u300c\u662f\u300d\u6216\u300c\u4e0d\u662f\u300d\u6765\u56de\u7b54\u7684\u95ee\u9898\u3002 \u5728\u8fc7\u53bb\u516d\u4e2a\u6708\u4e2d\uff0c\u6211\u4eec\u4f7f\u7528\u4e86\u624b\u52bf\u548c\u8c61\u5f62\u56fe\u3002 \u5f53\u6211\u4eec\u4e0d\u7406\u89e3\u4ed6\u6240\u8981\u8868\u8fbe\u7684\u610f\u601d\u65f6\uff0c\u4ed6\u5c31\u4f1a\u53d8\u5f97\u60b2\u4f24\uff0c\u6709\u65f6\u8fd8\u4f1a\u751f\u6c14\u3002 \u4ed6\u7684\u8bf4\u8bdd\u58f0\u975e\u5e38\u8f7b\uff0c\u800c\u4e14\u53e3\u9f7f\u4e0d\u6e05\uff0c\u5f53\u6211\u4eec\u8981\u6c42\u4ed6\u518d\u8bf4\u4e00\u904d\u65f6\uff0c\u4ed6\u4f1a\u5b8c\u5168\u6c89\u9ed8\u3002\u4ed6\u57281\u5c81\u751f\u65e5\u524d\u540e\u8bf4\u51fa\u4e86\u7b2c1\u4e2a\u8bcd\uff0c\u73b0\u5728\u4f7f\u75282\uff5e3\u4e2a\u8bcd\u7684\u77ed\u8bed\uff0c\u4f46\u5f88\u591a\u8bcd\u542c\u8d77\u6765\u90fd\u4e00\u6837\u3002<em> <\/em><\/p>\n\n\n\n<p><em>&#8211; 3<\/em>\u5c81<\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u7528\u624b\u8fdb\u884c\u4ea4\u6d41\uff0c\u4f8b\u5982\u7275\u624b\u89e6\u6478\u4ed6\u60f3\u8981\u7684\u4e1c\u897f\u30022\u5c81\u534a\u65f6\u5f00\u59cb\u4f7f\u7528\u8bed\u8a00\uff0c\u75281\u4e2a\u8bcd\u8868\u8fbe\u4ed6\u60f3\u8981\u7684\u4e1c\u897f\u3002 \u4ed6\u73b0\u5728\u4f7f\u75281\uff5e3\u4e2a\u8bcd\u7684\u77ed\u8bed\uff0c\u4f46\u5927\u591a\u6570\u58f0\u97f3\u90fd\u4e0d\u6e05\u6670\u3002 \u4ed6\u8bf4\u4e86\u5f88\u591a\uff0c\u4f46\u6ca1\u6709\u4eba\u80fd\u591f\u7406\u89e3\u4ed6\u3002<br><em> &#8211; 3<\/em>\u5c81<\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u964c\u751f\u4eba\u5f88\u96be\u7406\u89e3\u5979\u3002 \u5979\u5584\u4e8e\u8868\u8fbe\uff0c\u4f46\u4e0d\u5584\u4e8e\u63a5\u53d7\u3002<br><em> &#8211; 5\u5c81\u534a<\/em><\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u6211\u6ca1\u6709\u63a5\u53d7\u8bed\u8a00\u6cbb\u7597\uff0c\u4f46\u6211\u5f00\u59cb\u8bf4\u8bdd\u7684\u901f\u5ea6\u6709\u70b9\u6162\u3002 \u5728\u5f88\u957f\u4e00\u6bb5\u65f6\u95f4\u91cc\uff0c\u6211\u6307\u51fa\u4e86\u60f3\u8981\u7684\u4e00\u5207\u3002<br><em> &#8211; 1q21.1\u90e8\u5206\u91cd\u590d\u7684\u6210\u4eba<\/em><\/p>\n<\/blockquote>\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%A7%BB%E5%8A%A8%E8%83%BD%E5%8A%9B\"><\/span>\u79fb\u52a8\u80fd\u529b<span class=\"ez-toc-section-end\"><\/span><\/h3>\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 class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"206\" height=\"288\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-n.jpg\" alt=\"\" class=\"wp-image-18163\"\/><figcaption class=\"wp-element-caption\">9\u4e2a\u6708\u9f84<\/figcaption><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"294\" height=\"392\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-o.jpg\" alt=\"\" class=\"wp-image-18165\"\/><figcaption class=\"wp-element-caption\">27\u4e2a\u6708\u9f84<\/figcaption><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"463\" height=\"703\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-p.jpg\" alt=\"\" class=\"wp-image-18167\"\/><figcaption class=\"wp-element-caption\">3\u5c81<\/figcaption><\/figure><\/div><\/div>\n<\/div>\n<\/div><\/div>\n\n\n\n<p>\u73b0\u5728\u8981\u77e5\u9053\u8fd9\u79cd\u90e8\u5206\u91cd\u590d\u662f\u5426\u5bf9\u8fd0\u52a8\u80fd\u529b\u6709\u4e00\u81f4\u7684\u5f71\u54cd\u8fd8\u4e3a\u65f6\u8fc7\u65e9\uff0c\u4f46\u76ee\u524d\u4f3c\u4e4e\u5e76\u975e\u5982\u6b64\u3002\u5728\u5b69\u5b50\u786e\u8bca\u540e\u53d1\u73b0\u7236\u6bcd\u6709\u90e8\u5206\u91cd\u590d\u7684\u5bb6\u5ead\u4e2d\uff0c\u5373\u4f7f\u5b69\u5b50\u7684\u884c\u52a8\u80fd\u529b\u6709\u6240\u5ef6\u8fdf\uff0c\u7236\u6bcd\u7684\u884c\u52a8\u80fd\u529b\u901a\u5e38\u4e0d\u4f1a\u53d7\u5230\u5f71\u54cd\u3002<br>\u5177\u6709\u53d1\u80b2\u8fdf\u7f13\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u7684\u90e8\u5206\u91cd\u590d<\/a>\u7684\u513f\u7ae5\u53ef\u80fd\u9700\u8981<br>\u4e3a\u5b9e\u73b0\u300c\u5a74\u513f\u300d\u91cc\u7a0b\u7891\u5e76\u63d0\u4f9b\u989d\u5916\u7684\u652f\u6301\uff0c\u5982\u5750\u548c\u8d70\u52a8\u7b49\u7269\u7406\u6cbb\u7597\u53ef\u80fd\u5bf9\u808c\u8089\u7d27\u5f20\u4f4e\u4e0b\uff08\u808c\u5f20\u529b\u4f4e\u4e0b\uff09\u7684\u513f\u7ae5\u6709\u76ca\uff0c\u6240\u6709\u513f\u7ae5\u90fd\u53ef\u80fd\u4ece\u5b9a\u671f\u7684\u5206\u7ea7\u8fd0\u52a8\u4e2d\u53d7\u76ca\uff0c\u4ee5\u589e\u52a0\u808c\u8089\u529b\u91cf\u548c\u7075\u6d3b\u6027\u3002\u5728\u53d1\u80b2\u8fdf\u7f13\u7684Unique\u6210\u5458\u4e2d\uff0c\u5a74\u513f\u57285\uff5e10\u4e2a\u6708\u4e4b\u95f4\u5b66\u4f1a\u7ffb\u8eab\u3002\u57286~16\u4e2a\u6708\u4e4b\u95f4\u5b66\u4f1a\u4e86\u5750\uff0c\u57287~20\u4e2a\u6708\u4e4b\u95f4\u5b66\u4f1a\u4e86\u79fb\u52a8\uff08\u6447\u6643\u3001\u722c\u884c\uff09\uff0c\u572813~60\u4e2a\u6708\u4e4b\u95f4\u5b66\u4f1a\u4e86\u8d70\u8def\u3002\u5b69\u5b50\u4eec\u57281\u5c81\u534a\u540e1\u5e74\u7684\u65f6\u95f4\u4f1a\u4e0a\u697c\u68af\u3002 <br>3\u5e74\u95f4<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u5f53\u4ed6\u4eec\u7b2c\u4e00\u6b21\u5750\u8d77\u6765\u65f6\uff0c\u4e0d\u80fd\u5750\u76f4\uff0c\u5750\u5f97\u6709\u70b9\u50cf\u5e03\u4e01\u3002 \u7531\u4e8e\u8eaf\u5e72\u65cb\u8f6c\u53d7\u9650\uff0c\u722c\u884c\u53d8\u5f97\u975e\u5e38\u7f13\u6162\u3002\u5230\u4e861\u5c81\u751f\u65e5\u65f6\uff0c\u5f00\u59cb\u78b0\u649e\u81c0\u90e8\uff0c\u8e66\u8e66\u8df3\u8df3\u5730\u6ed1\u884c\u3002<br>\u8fd9\u79cd\u60c5\u51b5\u4e00\u76f4\u6301\u7eed\u5230\u572823\u4e2a\u6708\u5de6\u53f3\u80fd\u591f\u8d70\u8def\u3002 \u4ed6\u73b0\u5728\u51e0\u4e4e\u662f\u4e00\u4e2a\u6b63\u5e38\u76843\u5c81\u5b69\u5b50\u4e86\u3002 \u7531\u4e8e\u4ed6\u7684\u8eaf\u5e72\u65cb\u8f6c\u4ecd\u7136\u6709\u9650\uff0c\u6240\u4ee5\u4ed6\u8f6c\u8eab\u7684\u65f6\u95f4\u8981\u957f\u4e00\u70b9\u3002 \u5e73\u8861\u4e5f\u6709\u95ee\u9898\u3002 \u7269\u7406\u6cbb\u7597\u5e08\u8ba4\u4e3a\uff0c\u4ed6\u7684\u8eab\u4f53\u6bd4\u4f8b\u7565\u663e\u4e0d\u5178\u578b\uff08\u5934\u5927\u81c2\u77ed\uff09\uff0c\u8fd9\u5bfc\u81f4\u4ed6\u7ecf\u5e38\u6454\u5012\u3002 \u4ed6\u7684\u624b\u81c2\u6d3b\u52a8\u80fd\u529b\u8f83\u5dee\uff0c\u6240\u4ee5\u5f53\u4ed6\u6454\u5012\u65f6\uff0c\u8eab\u4f53\u5f88\u96be\u56de\u5230\u6700\u521d\uff0c\u800c\u4e14\u7ecf\u5e38\u6454\u5230\u8138\u3002 \u4ed6\u4f7f\u7528\u4e00\u8f86\u7279\u6b8a\u7684\u8d8a\u91ce\u8f66\u6765\u8d70\u8fdc\u8def\u3002 \u8fd9\u8f86\u8d8a\u91ce\u8f66\u662f\u4e3a\u4e86\u8ba9\u4ed6\u80fd\u5750\u76f4\uff0c\u4ed6\u6234\u7740\u5934\u76d4\uff0c\u8fd9\u6837\u5982\u679c\u4ed6\u6454\u5012\u5c31\u4e0d\u4f1a\u53d7\u4f24\u3002<br><em> &#8211; 2<\/em>\u5c81<\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u4ed6\u6709\u611f\u89c9\u5904\u7406\u969c\u788d\uff0c\u603b\u662f\u5728\u79fb\u52a8\u548c\u8e66\u8df3\u3002<br>\u4ed6\u559c\u6b22\u6500\u722c\u548c\u4e58\u5750\u79cb\u5343\u3002<br><em> &#8211; 3<\/em>\u5c81<\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u5979\u884c\u52a8\u8fc5\u901f\uff0c\u7ecf\u5e38\u7eca\u5012\u548c\u8dcc\u5012\uff0c\u5bf9\u4f7f\u7528\u697c\u68af\u611f\u5230\u7126\u8651\u3002<br><em> &#8211; \u9a6c\u4e0a6\u5c81<\/em><\/p>\n<\/blockquote>\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=\"%E4%B8%BA%E4%BB%80%E4%B9%88%E3%80%811q211%E7%9A%84%E9%83%A8%E5%88%86%E9%87%8D%E5%A4%8D%E7%9A%84%E4%BA%BA%E5%BD%BC%E6%AD%A4%E4%B9%8B%E9%97%B4%E4%BC%9A%E6%9C%89%E5%A6%82%E6%AD%A4%E5%A4%A7%E7%9A%84%E5%B7%AE%E5%BC%82%E3%80%82\"><\/span>\u4e3a\u4ec0\u4e48\u30011q21.1\u7684\u90e8\u5206\u91cd\u590d\u7684\u4eba\u5f7c\u6b64\u4e4b\u95f4\u4f1a\u6709\u5982\u6b64\u5927\u7684\u5dee\u5f02\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6211\u4eec\u8fd8\u6ca1\u6709\u6b63\u786e\u7406\u89e3\u8fd9\u4e00\u70b9\u3002\u76ee\u524d\u8fd8\u6ca1\u6709\u53d1\u73b0\u4e00\u81f4\u7684\u5dee\u5f02\u3002<br>\u6709\u4e0d\u540c\u7684\u90e8\u5206\u590d\u5236\u7684\u4eba\uff0c\u548c\u540c\u4e00\u5bb6\u65cf\u4e2d\u6709\u76f8\u540c\u7684\u90e8\u5206\u590d\u5236\u7684\u4eba\u53ef\u80fd\u6709\u975e\u5e38\u4e0d\u540c\u7684\u7279\u5f81\u3002<br>\u9020\u6210\u8fd9\u79cd\u4e0d\u786e\u5b9a\u6027\u7684\u539f\u56e0\u4e4b\u4e00\u662f\uff0c1\u53f7\u67d3\u8272\u4f53\u76841q21.1\u5e26\u975e\u5e38\u590d\u6742\uff0c\u786e\u5207\u7684DNA\u5e8f\u5217\u8fd8\u6ca1\u6709\u88ab\u5b8c\u5168\u7ed8\u5236\u51fa\u6765\u3002\u5730\u56fe\u4e0a\u4ecd\u670915\u4e2a\u7f3a\u53e3\uff0c\u8fd9\u4e9b\u7f3a\u53e3\u53ef\u80fd\u5305\u542b\u5bf9\u90e8\u5206\u91cd\u590d\u5f71\u54cd\u7684\u57fa\u56e0\u3002\u6b64\u5916\uff0c\u53ef\u80fd\u8fd8\u6709\u5176\u4ed6\u9057\u4f20\u548c\u73af\u5883\u56e0\u7d20\uff0c\u6211\u4eec\u8fd8\u4e0d\u4e86\u89e3\uff0c\u4f46\u4e5f\u5f88\u91cd\u8981\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=\"%E4%B8%BA%E4%BB%80%E4%B9%88%E8%A6%81%E8%B0%83%E6%9F%A51q211%E7%9A%84%E9%83%A8%E5%88%86%E9%87%8D%E5%A4%8D\"><\/span>\u4e3a\u4ec0\u4e48\u8981\u8c03\u67e51q21.1\u7684\u90e8\u5206\u91cd\u590d?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"294\" height=\"392\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-q.jpg\" alt=\"\" class=\"wp-image-18169\"\/><\/figure><\/div>\n\n\n<p>\u5927\u591a\u6570\u5a74\u513f\u548c\u513f\u7ae5\u90fd\u7531\u513f\u79d1\u533b\u751f\u6216\u4e13\u5bb6\u8fdb\u884c\u68c0\u67e5\uff0c\u56e0\u4e3a\u4ed6\u4eec\u6000\u7591\u5b58\u5728\u67d3\u8272\u4f53\u95ee\u9898\u3002<br><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u90e8\u5206\u91cd\u590d<\/a>\uff0c\u53ef\u4ee5\u89e3\u91ca\u75c7\u72b6\uff0c\u6216\u88ab\u8ba4\u4e3a\u65e0\u5173\u7d27\u8981\u3002\u5728\u66f4\u591a\u4eba\u88ab\u8bca\u65ad\u51fa\u6765\u4e4b\u524d\uff0c\u6211\u4eec\u4e0d\u4f1a\u77e5\u9053\u8fd9\u79cd\u90e8\u5206\u91cd\u590d\u4f1a\u4ea7\u751f\u4ec0\u4e48\u5f71\u54cd\u3002<br>Unique\u7684\u6210\u5458\u4e2d\u67092\u4e2a\u5a74\u513f\uff0c\u4ed6\u4eec\u56e0\u5934\u76d6\u9aa8\u878d\u5408\u75c7\uff08\u5f62\u6210\u9885\u9aa8\u7684\u4e00\u4e9b\u9aa8\u677f\u8fc7\u65e9\u878d\u5408\uff09\u800c\u63a5\u53d7\u8c03\u67e5\u3002 1\u4f8b\u540e\u7eed\u53d1\u80b2\u672a\u53d7\u5f71\u54cd\uff0c\u5934\u76d6\u9aa8\u878d\u5408\u75c7\u5e76\u975e\u90e8\u5206\u91cd\u590d\u6240\u81f4\u3002\u53e61\u4f8b\u60c5\u51b5\u4e0b\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u90e8\u5206\u91cd\u8907<\/a>\u4f5c\u7528\u662f\u672a\u77e5\u7684\u30021\u540d\u513f\u7ae5\u57286\u5c81\u65f6\u51fa\u73b0\u766b\u75eb\u53d1\u4f5c\u30024\u4e2a\u5b69\u5b50\u6709\u53d1\u80b2\u969c\u788d\uff0c\u5176\u4e2d1\u4e2a\u6709\u4e0d\u5bfb\u5e38\u7684\u9762\u90e8\u7279\u5f81\u3002\u53e61\u4e2a\u4eba\u810a\u67f1\u5f2f\u66f2\u5e76\u572818\u4e2a\u6708\u65f6\u51fa\u73b0\u766b\u75eb\u53d1\u4f5c\u3002\u53e61\u4e2a\u51fa\u751f\u65f6\u817f\u6709\u6b8b\u75be\uff0c\u4f46\u6ca1\u6709\u5fc3\u810f\u95ee\u9898\u30027\u4eba\u4e2d\u67094\u4eba\uff0c\u4ece\u4ee5\u524d\u4e0d\u8ba4\u4e3a\u81ea\u5df1\u6709\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u7236\u4eb2\u6216\u6bcd\u4eb2\u90a3\u91cc\u9057\u4f20\u4e86\u90e8\u5206\u91cd\u590d\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=\"%E8%BF%99%E5%88%B0%E5%BA%95%E6%98%AF%E6%80%8E%E4%B9%88%E5%8F%91%E7%94%9F%E7%9A%84%E5%91%A2%E3%80%82\"><\/span>\u8fd9\u5230\u5e95\u662f\u600e\u4e48\u53d1\u751f\u7684\u5462\u3002<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\">1q21.1\u90e8\u5206\u91cd\u590d<\/a>\u53ef\u4ee5\u5728\u6ca1\u6709\u660e\u663e\u539f\u56e0\u7684\u60c5\u51b5\u4e0b\u7a81\u7136\u53d1\u751f\uff0c\u6216\u8005\u53ef\u4ee5\u4ece\u6bcd\u4eb2\u6216\u7236\u4eb2\u90a3\u91cc\u9057\u4f20\u3002\u552f\u4e00\u786e\u5b9a\u7684\u65b9\u6cd5\u662f\u68c0\u67e5\u7236\u6bcd\u7684\u67d3\u8272\u4f53\u3002\u5373\u4f7f\u7236\u6bcd\u672c\u8eab\u975e\u5e38\u5065\u5eb7\u5e76\u4e14\u6ca1\u6709\u53d1\u80b2\u95ee\u9898\uff0c\u68c0\u67e5\u7236\u6bcd\u7684\u67d3\u8272\u4f53\u4e5f\u662f\u5fc5\u8981\u7684\u3002<br>\u5982\u679c\u7236\u6bcd\u4efb\u4f55\u4e00\u65b9\u6709\u76f8\u540c\u7684\u90e8\u5206\u91cd\u590d\uff0c\u5b83\u51e0\u4e4e\u80af\u5b9a\u662f\u7ee7\u627f\u7684\u3002<br>\u5982\u679c\u7236\u6bcd\u53cc\u65b9\u90fd\u6709\u6b63\u5e38\u67d3\u8272\u4f53\uff0c\u5219<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u90e8\u5206\u91cd\u590d<\/a>\u662f\u65b0\u53d1\u751f\u7684\u3002\u5728\u9057\u4f20\u672f\u8bed\u4e2d\uff0c\u88ab\u79f0\u4f5cde novo\uff08dn\uff09\u3002\u65b0\u53d1<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u90e8\u5206\u91cd\u590d<\/a>\uff0c\u662f\u7531\u5728\u4eb2\u4ee3\u7cbe\u5b50\u6216\u5375\u7ec6\u80de\u5f62\u6210\u7684\u65e9\u671f\u6216\u53d7\u7cbe\u540e\u53d1\u751f\u7684\u9519\u8bef\u5f15\u8d77\u7684\u3002\u4f5c\u4e3a\u7236\u6bcd\u65e0\u6cd5\u66f4\u6539\u6216\u63a7\u5236\u8fd9\u4e00\u70b9\u3002<br>\u6362\u53e5\u8bdd\u8bf4\uff0c\u7236\u6bcd\u5728\u6000\u5b55\u524d\u6216\u6000\u5b55\u671f\u95f4\u6ca1\u6709\u505a\u4efb\u4f55\u4e8b\u60c5\u4e5f\u4f1a\u5bfc\u81f4\u90e8\u5206\u91cd\u590d\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"695\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-r-1024x695.png\" alt=\"\" class=\"wp-image-18171\"\/><\/figure><\/div>\n\n\n<p>\u5728\u5375\u5b50\u548c\u7cbe\u5b50\u7ec6\u80de\u53d1\u80b2\u7684\u67d0\u4e00\u65f6\u523b\uff0c\u5305\u62ec2\u6761\u7684\u7b2c1\u67d3\u8272\u4f53\u6240\u6709\u67d3\u8272\u4f53\u5728\u5185\uff0c\u90fd\u4f1a\u914d\u5bf9\u548c\u4ea4\u6362\u4f53\u8282\u3002\u6bcf\u6761\u67d3\u8272\u4f53\u300c\u8bc6\u522b\u300d\u53e61\u6761\u67d3\u8272\u4f53\u4e0a\u5339\u914d\u6216\u51e0\u4e4e\u5339\u914d\u7684DNA\u5e8f\u5217\uff0c\u4ee5\u4fbf\u6b63\u786e\u5339\u914d\u5e76\u786e\u4fdd\u4ea4\u6362\u7684\u7247\u6bb5\u76f8\u540c\u3002\u7136\u800c\uff0c\u8bb8\u591aDNA\u5e8f\u5217\u5728\u67d3\u8272\u4f53\u4e0a\u662f\u76f8\u4f3c\u7684\uff0c\u5e76\u4e14\u9519\u914d\u88ab\u8ba4\u4e3a\u662f\u53ef\u80fd\u53d1\u751f\u7684\u3002\u7ed3\u679c\uff0c\u4f1a\u5bfc\u81f4\u4e0d\u76f8\u7b49\u7684\u4ea4\u6362\u3001\u7f3a\u5931\u6216\u91cd\u590d\u3002 <\/p>\n\n\n\n<p>1q21.1\u533a\u57df\u7684\u7ed3\u6784\u975e\u5e38\u590d\u6742\u3002\u5176\u4e2d4\u5206\u4e4b3\uff0c\u7531\u81f3\u5c114\u4e2a\u5f7c\u6b64\u76f8\u4f3c\u5ea6\u8d85\u8fc7 90% \u7684DNA\u5757\u7ec4\u6210\u3002\u8fd9\u4e9b\u975e\u5e38\u76f8\u4f3c\u7684\u5757\u5f88\u53ef\u80fd\u5bfc\u81f4\u4e86\u4e0d\u5339\u914d\u3002\u7814\u7a76\u4eba\u5458\u68c0\u67e5\u4e86\u5355\u4e2a\u4eba\u7c7b\u67d3\u8272\u4f53\u65ad\u70b9\uff0c\u53d1\u73b0\u5b83\u4eec\u4f4d\u4e8e\u8fd9\u4e9b\u51e0\u4e4e\u76f8\u540c\u7684 DNA \u5e8f\u5217\u4e2d\u3002\u5728\u5927\u591a\u6570\u4eba\u4e2d\uff0c\u5207\u65ad\u70b9\u5927\u591a\u4f4d\u4e8e\u540c\u4e00\u533a\u57df\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%A6%82%E6%9E%9C1q211%E7%9A%84%E9%83%A8%E5%88%86%E9%87%8D%E5%A4%8D%E7%9A%84%E5%AE%B6%E5%BA%AD%E4%B8%AD%E7%9A%841%E5%90%8D%E6%88%90%E5%91%98%E5%8F%97%E5%88%B0%E8%BD%BB%E5%BA%A6%E5%BD%B1%E5%93%8D%EF%BC%8C%E9%82%A3%E4%B9%88%E5%90%8C1%E5%AE%B6%E5%BA%AD%E4%B8%AD%E7%9A%84%E5%85%B6%E4%BB%96%E6%88%90%E5%91%98%E6%98%AF%E5%90%A6%E4%B9%9F%E5%8F%97%E5%88%B0%E8%BD%BB%E5%BA%A6%E5%BD%B1%E5%93%8D\"><\/span>\u5982\u679c1q21.1\u7684\u90e8\u5206\u91cd\u590d\u7684\u5bb6\u5ead\u4e2d\u76841\u540d\u6210\u5458\u53d7\u5230\u8f7b\u5ea6\u5f71\u54cd\uff0c\u90a3\u4e48\u540c1\u5bb6\u5ead\u4e2d\u7684\u5176\u4ed6\u6210\u5458\u662f\u5426\u4e5f\u53d7\u5230\u8f7b\u5ea6\u5f71\u54cd?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5e76\u4e0d\u7edd\u5bf9\u3002\u540c\u4e00\u5bb6\u5ead\u7684\u6210\u5458\u4e4b\u95f4\u5b58\u5728\u8bb8\u591a\u5dee\u5f02\u3002<br>\u6709\u4eba\u53ef\u80fd\u662f\u8f7b\u75c7\uff0c\u6709\u4eba\u53ef\u80fd\u662f\u91cd\u75c7\uff0c\u5e76\u4e14\u53d7\u5230\u660e\u663e\u5f71\u54cd\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%AE%83%E4%BC%9A%E5%86%8D%E6%AC%A1%E5%8F%91%E7%94%9F%E5%90%97\"><\/span>\u5b83\u4f1a\u518d\u6b21\u53d1\u751f\u5417?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5982\u679c\u7236\u6bcd\u53cc\u65b9\u90fd\u6709\u6b63\u5e38\u7684\u67d3\u8272\u4f53\uff0c\u5b69\u5b50\u51fa\u751f\u65f6\u4e0d\u592a\u53ef\u80fd\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u90e8\u5206\u91cd\u590d<\/a>\u6216<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5176\u4ed6\u7684\u67d3\u8272\u4f53\u9057\u4f20<\/a>\u3002\u5728\u975e\u5e38\u7f55\u89c1\u7684\u60c5\u51b5\u4e0b\uff081\uff05\u672a\u6ee1\uff09\uff0c\u5c3d\u7ba1\u7236\u6bcd\u53cc\u65b9\u7684\u8840\u6db2\u68c0\u67e5\u663e\u793a\u67d3\u8272\u4f53\u6b63\u5e38\uff0c\u4f46\u5728\u7236\u6bcd\u7684\u4e00\u4e9b\u5375\u5b50\u6216\u7cbe\u5b50\u7ec6\u80de\u4e2d\u53ef\u80fd\u5b58\u5728<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u90e8\u5206\u91cd\u590d<\/a>\u3002\u8fd9\u88ab\u79f0\u4e3a<strong>\u751f\u6b96\u7ec6\u80de\u5d4c\u5408<\/strong>\uff0c\u610f\u5473\u7740\u7236\u6bcd\u7684\u67d3\u8272\u4f53\u5728\u8840\u6db2\u6d4b\u8bd5\u4e2d\u663e\u793a\u6b63\u5e38\uff0c\u6240\u751f\u7684\u5b69\u5b50\u5374\u67091\u4e2a\u4ee5\u4e0a\u6709\u91cd\u590d\u7684\u90e8\u5206.<br>\u5728\u7236\u6bcd\u53cc\u65b9\u90fd\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u90e8\u5206\u91cd\u590d<\/a>\u7684\u5bb6\u5ead\u4e2d\uff0c1\u6b21\u6000\u5b55\u5c31\u670950%\u7684\u51e0\u7387\u751f\u51fa<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u90e8\u5206\u91cd\u590d<\/a>\u7684\u5b69\u5b50\uff08\u5973\u5b69\u6216\u7537\uff09\u4f46\u662f\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u90e8\u5206\u91cd\u590d<\/a>\u5bf9\u5b69\u5b50\u7684\u53d1\u80b2\u3001\u5065\u5eb7\u548c\u884c\u4e3a\u7684\u5f71\u54cd\u662f\u4e0d\u53ef\u9884\u6d4b\u7684\u3002<br>\u9057\u4f20\u5b66\u4e2d\u5fc3\uff0c\u53ef\u4ee5\u5728\u5c1d\u8bd5\u518d\u6b21\u6000\u5b55\u4e4b\u524d\u63d0\u4f9b\u54a8\u8be2\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=\"%E6%82%A3%E6%9C%891q211%E7%9A%84%E9%83%A8%E5%88%86%E9%87%8D%E5%A4%8D%E7%9A%84%E4%BA%BA%E7%9A%84%E5%AD%A9%E5%AD%90%EF%BC%8C%E6%98%AF%E5%90%A6%E5%90%8C%E6%A0%B7%E5%8F%97%E5%BD%B1%E5%93%8D\"><\/span>\u60a3\u67091q21.1\u7684\u90e8\u5206\u91cd\u590d\u7684\u4eba\u7684\u5b69\u5b50\uff0c\u662f\u5426\u540c\u6837\u53d7\u5f71\u54cd?<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\">1q21.1\u7684\u90e8\u5206\u91cd\u590d<\/a>\u7684\u4eba\u53ef\u80fd\u5e0c\u671b\u6709\u4e00\u4e2a\u5b69\u5b50\u3002\u751f\u80b2\u80fd\u529b\u53ef\u80fd\u662f\u6b63\u5e38\u7684\uff0c\u5c3d\u7ba1\u6211\u4eec\u5bf9\u8fd9\u79cd\u60c5\u51b5\u4e86\u89e3\u7684\u65f6\u95f4\u8fd8\u4e0d\u591f\u957f\uff0c\u4e0d\u80fd\u786e\u5b9a\u5b83\u662f\u5426\u4f1a\u5f71\u54cd\u751f\u80b2\u80fd\u529b\u3002\u5728\u6bcf\u6b21\u6000\u5b55\u4e2d\uff0c\u6709\u91cd\u590d\u7684\u4eba\u670950%\u7684\u98ce\u9669\u4f1a\u9057\u4f20\uff0c\u670950%\u7684\u673a\u4f1a\u751f\u51fa\u6ca1\u6709\u91cd\u590d\u7684\u5b69\u5b50\u3002<br>\u7167\u987e\u5b69\u5b50\u7684\u80fd\u529b\u5f88\u53ef\u80fd\u4e0e\u81ea\u5df1\u7684\u5b66\u4e60\u80fd\u529b\u5bc6\u5207\u76f8\u5173\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"766\" height=\"826\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-s.jpg\" alt=\"\" class=\"wp-image-18173\"\/><figcaption class=\"wp-element-caption\">5\u5c81<\/figcaption><\/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=\"1q211%E7%9A%84%E5%9F%BA%E5%9B%A0%E7%9A%84%E4%B8%80%E9%83%A8%E5%88%86\"><\/span>1q21.1\u7684\u57fa\u56e0\u7684\u4e00\u90e8\u5206<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5728\u5927\u591a\u6570\u4eba\u4e2d<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d\u4e2d\u76841q21.1\u7684\u90e8\u5206<\/a>\u7684\u57fa\u56e0\u662f\u4e30\u5bcc\u7684\u3002<br>GJA5\u662f\u4e00\u4e2a\u4ea7\u751f\u4e00\u79cd\u79f0\u4e3aConnexin40\u7684\u86cb\u767d\u8d28\u7684\u57fa\u56e0\u3002\u5b83\u8868\u8fbe\u5728\u5fc3\u810f\u7684\u4e0a\u5fc3\u5ba4\uff08\u5fc3\u623f\uff09\uff0c\u5982\u679c\u5b83\u6ca1\u6709\u5145\u8db3\u7684\u8bdd\u4f1a\u4e0e\u5148\u5929\u6027\u5fc3\u810f\u75c5\u6709\u5173\u3002\u7136\u800c\uff0c\u4e00\u4e9b\u6ca1\u6709\u8fd9\u79cd\u57fa\u56e0\u7684\u4eba\u6709\u6b63\u5e38\u7684\u5fc3\u810f\uff0c\u5176\u539f\u56e0\u5e76\u4e0d\u5b8c\u5168\u6e05\u695a(Christiansen 2004; Mefford 2008; Brunet 2009)\u3002<br>PRKAB2\u662f\u53e6\u4e00\u4e2a\u88ab\u53d1\u73b0\u5728\u5fc3\u810f\u4e2d\u8868\u8fbe\u7684\u57fa\u56e0(Brunet 2009)\u3002<br>\u5728\u67d3\u8272\u4f5316q22.2\u4e0a\u53d1\u73b0\u7684HYD1N\u57fa\u56e0\uff0c\u5728\u8fdb\u5316\u8fc7\u7a0b\u4e2d\u57281q21.1\u53f7\u67d3\u8272\u4f53\u4e0a\u6709\u4e00\u4e2a\u62f7\u8d1d\u63d2\u5165\u7684\u90e8\u5206\u3002\u4f4d\u4e8e1q21.1\u7684HYD1N\u57fa\u56e0\u53ea\u5728\u5927\u8111\u4e2d\u6d3b\u8dc3\u3002<br>\u6709\u7f3a\u5931\u57fa\u56e0\u7684\u4e2a\u4f53\u7684\u5934\u90e8\u5c3a\u5bf8\u8f83\u5c0f\uff0c\u800c\u6709\u989d\u5916\u57fa\u56e0\u7684\u4e2a\u4f53\u7684\u5934\u90e8\u5c3a\u5bf8\u8f83\u5927\u3002\u8fd9\u5f3a\u70c8\u5730\u8868\u660e\uff0cHYD1N\u57fa\u56e0\u5728\u51b3\u5b9a\u5934\u90e8\u5927\u5c0f\u65b9\u9762\u8d77\u7740\u4f5c\u7528(Brunetti-Pierri 2008; Mefford 2008)\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"458\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-t-1024x458.png\" alt=\"\" class=\"wp-image-18175\"\/><\/figure><\/div>\n\n\n<p>\u56fe\u81eaNature Genetics Vol. 40 (12) p1469\uff0c\u7ecfAnkita Patel\u535a\u58eb\u8bb8\u53ef\u7f16\u8f91\uff0c\u968f\u540e\u66f4\u65b0\u3002 \u56fe\u4e2d\u7684\u6570\u5b57\uff0c\u6307\u7684\u662f\u4eba\u7c7b\u57fa\u56e0\u7ec4\u6784\u5efa19(hg19\u3001\u8be6\u7ec6\u89c1\u7b2c4\u9875)\u3002 \u60a8\u7684\u5b69\u5b50\u7684\u62a5\u544a\uff0c\u53ef\u80fd\u6307\u7684\u662f\u4e0d\u540c\u7684\u4eba\u7c7b\u57fa\u56e0\u7ec4\u6784\u5efa\u3002\u8be2\u95ee\u4e00\u4e0b\u81ea\u8eab\u6216\u9057\u4f20\u5b66\u4e13\u5bb6\u3002 <br>\u5e2e\u52a9\u6211\u4eec\u7406\u89e3\u8be5\u62a5\u544a\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"563\" height=\"855\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-u.jpg\" alt=\"\" class=\"wp-image-18177\"\/><figcaption class=\"wp-element-caption\">3\u5c81<\/figcaption><\/figure><\/div><\/div><\/div>\n\n\n\n<hr class=\"wp-block-separator has-css-opacity\"\/>\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=\"%E6%94%AF%E6%8C%81%E4%B8%8E%E4%BF%A1%E6%81%AF\"><\/span>\u652f\u6301\u4e0e\u4fe1\u606f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u7f55\u89c1\u7684\u67d3\u8272\u4f53\u75be\u75c5\u652f\u6301\u5c0f\u7ec4<\/strong><br>The Stables, Station Rd West, Oxted, Surrey. \u82f1\u56fdRH8 9EE<br>\u7535\u8bdd: +44(0)1883 723356<br>info@rarechromo.org I www.rarechromo.org<\/p>\n\n\n\n<p>\u4e3a\u4e86\u53d7\u5230\u88ab\u79f0\u4e3a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u7684\u90e8\u5206\u7f3a\u5931\u4ee5\u53ca\u90e8\u5206\u91cd\u590d<\/a>\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">1q21.1\u7684\u91cd\u590d<\/a>\u5f71\u54cd\u7684\u5bb6\u5ead\uff0c\u5efa\u7acb\u4e86\u4e00\u4e2aFacebook(www.facebook.com)\u5c0f\u7ec4<\/p>\n\n\n\n<p>\u52a0\u5165Unique\u83b7\u5f97\u5bb6\u5ead\u94fe\u63a5\u3001\u4fe1\u606f\u548c\u652f\u6301\u3002<br>Unique\u662f\u4e00\u4e2a\u4e0d\u63a5\u53d7\u653f\u5e9c\u8d44\u52a9\u7684\u6148\u5584\u673a\u6784\uff0c\u8d44\u91d1\u5b8c\u5168\u6765\u81ea\u6350\u6b3e\u548c\u8d60\u6b3e\u3002 \u5982\u679c\u4f60\u60f3\u5e2e\u5fd9\uff0c\u8bf7\u901a\u8fc7\u6211\u4eec\u7684\u7f51\u7ad9\uff08www.rarechromo.org\/donate\uff09\u3002<br>\u6211\u4eec\u5c06\u611f\u8c22\u60a8\u7684\u5e2e\u52a9\u548c\u652f\u6301\u3002<\/p>\n\n\n\n<p>Unique\u4f1a\u63d0\u5230\u5176\u4ed6\u7ec4\u7ec7\u7684\u7559\u8a00\u677f\u548c\u7f51\u7ad9\uff0c\u4ee5\u5e2e\u52a9\u5bb6\u5ead\u5bfb\u627e\u4fe1\u606f\u3002 \u8fd9\u5e76\u4e0d\u610f\u5473\u7740\u6211\u4eec\u8ba4\u53ef\u6216\u5bf9\u5176\u5185\u5bb9\u8d1f\u8d23\u3002<br>\u672c\u6307\u5357\u4e0d\u80fd\u66ff\u4ee3\u4e2a\u4eba\u533b\u7597\u5efa\u8bae\u3002 \u5bb6\u5ead\u5e94\u8be5\u5c31\u6240\u6709\u4e0e\u9057\u4f20\u8bca\u65ad\u3001\u7ba1\u7406\u548c\u5065\u5eb7\u6709\u5173\u7684\u4e8b\u9879\u54a8\u8be2\u5177\u6709\u533b\u7597\u8d44\u683c\u7684\u4e34\u5e8a\u533b\u751f\u3002 \u672c\u8d44\u6599\u88ab\u8ba4\u4e3a\u662f\u51fa\u7248\u65f6\u7684\u6700\u4f73\u8d44\u6599\uff0c\u5e76\u7ecf\u7f8e\u56fd\u534e\u76db\u987f\u5927\u5b66\u9057\u4f20\u533b\u5b66\u7cfb\u513f\u79d1\u52a9\u7406\u6559\u6388Heather Mefford\u535a\u58eb\u548cUnique\u7684\u9996\u5e2d\u533b\u5b66\u987e\u95ee\u3001\u534e\u5a01\u5927\u5b66\u751f\u6b96\u9057\u4f20\u5b66\u6559\u6388Marge Hulten\u6559\u6388\uff082010\u5e74\uff09\u5ba1\u6838\u3002<\/p>\n\n\n\n<p>2010\u5e74 \u7b2c1.0\u7248 (PM)<br>2011\u5e74 \u7b2c1.1\u7248 (PM)<br>2013\u5e74 \u7248\u672c1.2 (SW)<\/p>\n\n\n\n<p class=\"has-text-align-center\">\u8457\u4f5c\u6743 \u00a9 Unique 2018<\/p>\n\n\n\n<p>\u7f55\u89c1\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u652f\u6301\u5c0f\u7ec4 \u6148\u5584\u7f16\u53f71110661<br>\u5728\u82f1\u683c\u5170\u548c\u5a01\u5c14\u58eb\u6ce8\u518c \u516c\u53f8\u7f16\u53f75460413<\/p>\n<\/div><\/div>\n","protected":false},"excerpt":{"rendered":"\u6765\u6e90\u548c\u53c2\u8003\u6587\u732e \u672c\u6307\u5357\u4e2d\u7684\u4fe1\u606f\u3001\u6765\u81ea\u4e8e\u5bf9&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q21-1-microduplications\/?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":[319,326,327],"class_list":["post-46243","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-treatise-zh-hans","tag-319","tag-326","tag-327"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/46243","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=46243"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/46243\/revisions"}],"predecessor-version":[{"id":109677,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/46243\/revisions\/109677"}],"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=46243"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=46243"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=46243"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}