{"id":18296,"date":"2021-10-18T17:19:55","date_gmt":"2021-10-18T08:19:55","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=18296"},"modified":"2025-08-11T14:37:35","modified_gmt":"2025-08-11T05:37:35","slug":"duplications-of-distal-14q","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans","title":{"rendered":"\u8fdc\u7aef14q\u7684\u91cd\u590d"},"content":{"rendered":"\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\/#14q%E7%9A%84%E9%87%8D%E5%A4%8D\" >14q\u7684\u91cd\u590d<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\/#%E5%9F%BA%E5%9B%A0%E5%92%8C%E6%9F%93%E8%89%B2%E4%BD%93\" >\u57fa\u56e0\u548c\u67d3\u8272\u4f53<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\/#%E6%A0%B8%E5%9E%8B\" >\u6838\u578b<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\/#14q%E9%A2%9D%E5%A4%96%E7%9A%84%E9%83%A8%E5%88%86%E4%B8%8E%E6%9D%A5%E8%87%AA%E5%8F%8C%E4%BA%B2%E7%9A%84%E5%93%AA%E4%BD%8D%E6%9C%89%E5%85%B3%E5%90%97\" >14q\u989d\u5916\u7684\u90e8\u5206\u4e0e\u6765\u81ea\u53cc\u4eb2\u7684\u54ea\u4f4d\u6709\u5173\u5417?<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\/#%E6%9D%A5%E6%BA%90%E4%B8%8E%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\" >\u6765\u6e90\u4e0e\u53c2\u8003\u6587\u732e<\/a><\/li><\/ul><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\/#14q%E7%9A%84%E5%AE%8C%E5%85%A8%E9%87%8D%E5%A4%8D%E6%9F%93%E8%89%B2%E4%BD%93%E4%B8%89%E4%BD%93%E7%BB%BC%E5%90%88%E7%97%87\" >14q\u7684\u5b8c\u5168\u91cd\u590d(\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7)<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\/#14q22%E5%92%8C14q32%E4%B9%8B%E9%97%B4%E7%9A%84%E5%A4%A7%E9%87%8F%E9%87%8D%E5%A4%8D\" >14q22\u548c14q32\u4e4b\u95f4\u7684\u5927\u91cf\u91cd\u590d<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\/#%E5%9C%A814q222414q32%E7%BE%A4%E5%86%85%E7%9A%84%E9%87%8D%E5%A4%8D\" >\u572814q22~24~14q32\u7fa4\u5185\u7684\u91cd\u590d<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\/#%E5%9C%A814q3114q32%E7%BE%A4%E5%86%85%E7%9A%84%E5%B0%8F%E9%83%A8%E5%88%86%E9%87%8D%E5%A4%8D\" >\u572814q31~14q32\u7fa4\u5185\u7684\u5c0f\u90e8\u5206\u91cd\u590d<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\/#%E6%9C%89%E9%87%8D%E5%A4%8D%EF%BC%8C%E4%BD%86%E6%97%A0%E6%98%8E%E6%98%BE%E5%BD%B1%E5%93%8D%E7%9A%84%E5%AE%B6%E5%BA%AD\" >\u6709\u91cd\u590d\uff0c\u4f46\u65e0\u660e\u663e\u5f71\u54cd\u7684\u5bb6\u5ead<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\/#14q13%E5%88%B014q243%E9%95%BF%E8%87%82%E6%9C%AB%E7%AB%AF%E7%9A%84%E5%A4%A7%E9%87%8F%E9%87%8D%E5%A4%8D\" >14q13\u523014q24.3\u957f\u81c2\u672b\u7aef\u7684\u5927\u91cf\u91cd\u590d<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\/#%E5%AE%89%E5%BE%B7%E9%B2%81\" >\u5b89\u5fb7\u9c81<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\/#%E4%BB%8E_14q31_%E6%88%96_14q32_%E5%BC%80%E5%A7%8B%E7%9A%84%E9%95%BF%E8%87%82%E6%9C%AB%E7%AB%AF%E7%9A%84%E5%B0%91%E9%87%8F%E9%87%8D%E5%A4%8D\" >\u4ece 14q31 \u6216 14q32 \u5f00\u59cb\u7684\u957f\u81c2\u672b\u7aef\u7684\u5c11\u91cf\u91cd\u590d<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\/#%E8%B4%9D%E5%9F%BA\" >\u8d1d\u57fa<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\/#%E6%88%B4%E7%BB%B4%E6%96%AF\" >\u6234\u7ef4\u65af<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\/#%E5%B8%83\" >\u5e03<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\/#%E5%9F%83%E7%B1%B3%E5%B0%94\" >\u57c3\u7c73\u5c14<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\/#%E6%B5%B7%E8%8E%89\" >\u6d77\u8389<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\/#%E5%9F%83%E6%96%AF%E6%A2%85\" >\u57c3\u65af\u6885<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\/#%E5%8A%B3%E6%8B%89\" >\u52b3\u62c9<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\/#%E4%BA%9A%E4%BC%A6\" >\u4e9a\u4f26<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\/#%E9%87%8D%E5%A4%8D%E6%98%AF%E5%A6%82%E4%BD%95%E4%BA%A7%E7%94%9F%E7%9A%84%EF%BC%9F\" >\u91cd\u590d\u662f\u5982\u4f55\u4ea7\u751f\u7684\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\/#%E4%BC%9A%E5%86%8D%E6%AC%A1%E5%8F%91%E7%94%9F%E5%90%97\" >\u4f1a\u518d\u6b21\u53d1\u751f\u5417?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\/#%E6%94%AF%E6%8F%B4%E4%B8%8E%E8%B5%84%E8%AE%AF\" >\u652f\u63f4\u4e0e\u8d44\u8baf<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\/#%E5%8A%A0%E5%85%A5_Unique_%E4%BB%A5%E8%8E%B7%E5%BE%97%E5%AE%B6%E6%97%8F%E8%81%94%E7%B3%BB%E3%80%81%E8%B5%84%E8%AE%AF%E5%92%8C%E6%94%AF%E6%8F%B4%E3%80%82\" >\u52a0\u5165 Unique \u4ee5\u83b7\u5f97\u5bb6\u65cf\u8054\u7cfb\u3001\u8d44\u8baf\u548c\u652f\u63f4\u3002<\/a><\/li><\/ul><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"14q%E7%9A%84%E9%87%8D%E5%A4%8D\"><\/span><strong>14q\u7684<\/strong>\u91cd\u590d<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14 \u53f7\u67d3\u8272\u4f53\u91cd\u590d<\/a>\u662f\u4e00\u79cd\u7f55\u89c1\u7684\u75be\u75c5\uff0c\u7531\u8eab\u4f53 46 \u6761\u67d3\u8272\u4f53\u4e2d\u7684\u4e00\u6761\u9057\u4f20\u7269\u8d28\u7684\u989d\u5916\u7247\u6bb5\u5f15\u8d77\uff0c\u5bfc\u81f4\u8be5\u7247\u6bb5\u4e0a\u5b58\u5728\u989d\u5916\u7684\u57fa\u56e0\u62f7\u8d1d\u3002 \u6b63\u5e38\u7684\u751f\u957f\u53d1\u80b2\u9700\u8981\u6b63\u786e\u6570\u91cf\u7684\u9057\u4f20\u7269\u8d28\u3002 \u989d\u5916\u7684\u9057\u4f20\u7269\u8d28\u5f88\u53ef\u80fd\u4f1a\u5bfc\u81f4\u4e00\u4e9b\u95ee\u9898\u3002\u7136\u800c\uff0c\u95ee\u9898\u7684\u6027\u8d28\u53d6\u51b3\u4e8e\u88ab\u8907\u88fd\u7684\u67d3\u8272\u4f53\u7247\u6bb5\u3001\u5b83\u5305\u542b\u7684\u57fa\u56e0\u4ee5\u53ca\u5728\u67d0\u4e9b\u60c5\u51b5\u4e0b\u8d77\u6e90\u7684\u4eb2\u672c\u3002\u5230\u76ee\u524d\u4e3a\u6b62\uff0c\u5df2\u7ecf\u5728 14 \u53f7\u67d3\u8272\u4f53\u4e0a\u53d1\u73b0\u4e86 730 \u591a\u4e2a\u57fa\u56e0\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<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%9F%BA%E5%9B%A0%E5%92%8C%E6%9F%93%E8%89%B2%E4%BD%93\"><\/span><strong>\u57fa\u56e0\u548c\u67d3\u8272\u4f53<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6211\u4eec\u7684\u8eab\u4f53\u7531\u6570\u5341\u4ebf\u4e2a\u7ec6\u80de\u7ec4\u6210\u3002\u5927\u591a\u6570\u7ec6\u80de\u5305\u542b\u4e00\u6574\u5957\u6570\u4ee5\u4e07\u8ba1\u7684\u57fa\u56e0\u3002\u57fa\u56e0\u5c31\u50cf\u4e00\u7ec4\u6307\u4ee4\uff0c\u63a7\u5236\u7740\u6211\u4eec\u7684\u6210\u957f\u548c\u53d1\u80b2\u4ee5\u53ca\u6211\u4eec\u7684\u8eab\u4f53\u5982\u4f55\u8fd0\u4f5c\u3002\u57fa\u56e0\u643a\u5e26\u5728\u79f0\u4e3a\u67d3\u8272\u4f53\u7684\u5fae\u89c2\u4e0a\u5f88\u5c0f\u7684\u7ebf\u72b6\u7ed3\u6784\u4e0a\u3002\u901a\u5e38\u6709 46 \u6761\u67d3\u8272\u4f53\uff0c\u5176\u4e2d 23 \u6761\u9057\u4f20\u81ea\u6bcd\u4eb2\uff0c23 \u6761\u9057\u4f20\u81ea\u7236\u4eb2\uff0c\u56e0\u6b64\u6211\u4eec\u6709\u4e24\u7ec4\u201c\u6210\u5bf9\u201d\u7684 23 \u6761\u67d3\u8272\u4f53\u3002\u9664\u4e86\u4e24\u6761\u6027\u67d3\u8272\u4f53\uff08\u5973\u5b69\u6709\u4e24\u4e2a X\uff0c\u7537\u5b69\u6709\u4e00\u4e2a X \u548c\u4e00\u4e2a Y\uff09\u5916\uff0c\u67d3\u8272\u4f53\u7f16\u53f7\u4e3a 1 \u5230 22\uff0c\u901a\u5e38\u4ece\u5927\u5230\u5c0f\u3002\u6bcf\u6761\u67d3\u8272\u4f53\u90fd\u6709\u4e00\u6761\u77ed\u81c2\uff08\u5728\u4e0b\u4e00\u9875\u56fe\u8868\u7684\u9876\u90e8\uff09\uff0c\u4ece petit \u4e2d\u79f0\u4e3a p\uff0c\u5728\u6cd5\u8bed\u4e2d\u8868\u793a\u5c0f\uff0c\u8fd8\u6709\u4e00\u6761\u957f\u81c2\uff0c\u79f0\u4e3a q\uff08\u5728\u5e95\u90e8\uff09\u3002<br>14 \u53f7\u67d3\u8272\u4f53\u7684\u77ed (p) \u81c2\u975e\u5e38\u5c0f\uff0c\u6211\u4eec\u76f8\u4fe1\u5b83\u53ef\u4ee5\u590d\u5236\u800c\u4e0d\u4f1a\u9020\u6210\u660e\u663e\u4f24\u5bb3\u3002\u6765\u81ea\u957f\u81c2\u7684\u989d\u5916\u9057\u4f20\u7269\u8d28\u9884\u8ba1\u4f1a\u4ea7\u751f\u66f4\u591a\u540e\u679c\uff0c\u56e0\u4e3a\u8fd9\u90e8\u5206\u5305\u542b\u91cd\u8981\u7684\u9057\u4f20\u4fe1\u606f\u3002\u67d3\u8272\u4f53\u7528\u8089\u773c\u662f\u4e0d\u53ef\u89c1\u7684\uff0c\u4f46\u5728\u7528\u67d3\u6599\u67d3\u8272\u540e\uff0c\u5728\u663e\u5fae\u955c\u4e0b\u653e\u5927\u65f6\u53ef\u4ee5\u770b\u5230\u4ea7\u751f\u7279\u5fb5\u6761\u5e26\u56fe\u6848\u3002\u7b2c 3 \u9875\u4e0a\u7684\u56fe\u8868\u663e\u793a\u4e86 14 \u53f7\u67d3\u8272\u4f53\u7684\u6761\u5e26\uff0c\u4ece\u7740\u4e1d\u7c92\uff08\u67d3\u8272\u4f53\u7684\u7f29\u8fdb\u533a\u57df\uff09\u5f00\u59cb\u5411\u5916\u7f16\u53f7\u3002<br>\u8f83\u4f4e\u7684\u6570\u5b57\uff0c\u5982 q11\uff0c\u63a5\u8fd1\u7740\u4e1d\u7c92\u3002\u9760\u8fd1\u7740\u4e1d\u7c92\u7684\u533a\u57df\u79f0\u4e3a\u8fd1\u7aef\u3002\u8bf8\u5982 q32 \u4e4b\u7c7b\u7684\u9ad8\u6570\u4f4d\u4e8e\u67d3\u8272\u4f53\u5c16\u7aef\u9644\u8fd1\uff0c\u5e76\u4e14\u7531\u4e8e\u8fdc\u79bb\u7740\u4e1d\u7c92\u800c\u88ab\u79f0\u4e3a\u8fdc\u7aef\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A0%B8%E5%9E%8B\"><\/span>\u6838\u578b<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u60a8\u7684\u9057\u4f20\u4e13\u5bb6\u53ef\u4ee5\u544a\u8bc9\u60a8\u66f4\u591a\u5173\u4e8e\u4e22\u5931\u4e86\u54ea\u4e9b\u67d3\u8272\u4f53\u6750\u6599\u7684\u4fe1\u606f\u3002\u4f60\u51e0\u4e4e\u80af\u5b9a\u4f1a\u5f97\u5230\u4e00\u4e2a\u6838\u578b\uff0c\u4e00\u4e2a\u901f\u8bb0\u4ee3\u7801\uff0c\u663e\u793a\u67d3\u8272\u4f53\u65ad\u88c2\u548c\u91cd\u65b0\u8fde\u63a5\u7684\u6761\u5e26\u3002\u6761\u5e26\u53ef\u4ee5\u5305\u542b\u8bb8\u591a\u57fa\u56e0\uff0c\u6839\u636e\u7528\u4e8e\u67e5\u627e\u60a8\u5b69\u5b50\u7684\u67d3\u8272\u4f53\u91cd\u590d\u7684\u6280\u672f\uff0c\u6838\u578b\u6709\u65f6\u4f1a\u663e\u793a\u7279\u5b9a\u57fa\u56e0\u662f\u5426\u91cd\u590d\u3002\u4f46\u662f\u60a8\u901a\u5e38\u9700\u8981\u5411\u60a8\u7684\u9057\u4f20\u4e13\u5bb6\u8be2\u95ee\u5b8c\u6574\u7684\u89e3\u91ca\u3002\u60a8\u5b69\u5b50\u7684\u6838\u578b\u53ef\u80fd\u770b\u8d77\u6765\u5f88\u50cf\u53e6\u4e00\u4e2a\u4eba\u7684\uff0c\u6765\u81ea\u72ec\u7acb\u7684\u6216\u533b\u5b66\u6587\u732e\uff0c\u6216\u8005\u53ef\u80fd\u770b\u8d77\u6765\u5b8c\u5168\u4e00\u6837\u3002\u4f46\u5373\u4f7f\u5728\u5177\u6709\u76f8\u540c\u6838\u578b\u7684\u4eba\u4e2d\uff0c\u67d3\u8272\u4f53\u4e5f\u53ef\u80fd\u5728\u540c\u4e00\u6761\u5e26\u5185\u7684\u4e0d\u540c\u70b9\u65ad\u88c2\u3002\u8fd9\u662f\u4e3a\u4ec0\u9ebd\u5177\u6709\u660e\u663e\u76f8\u4f3c\u6838\u578b\u7684\u4eba\u5e76\u4e0d\u90fd\u5177\u6709\u76f8\u540c\u7684\u95ee\u9898\u6216\u7279\u5fb5\u7684\u91cd\u8981\u539f\u56e0\u4e4b\u4e00\u3002\u4e2a\u4f53\u5dee\u5f02\u53ef\u80fd\u975e\u5e38\u660e\u663e\uff0c\u4e0d\u8981\u5728\u60a8\u7684\u5b69\u5b50\u548c\u5176\u4ed6\u4eba\u4e4b\u95f4\u8fdb\u884c\u76f4\u63a5\u6bd4\u8f83\u975e\u5e38\u91cd\u8981\u3002\u6bd5\u7adf\uff0c\u6211\u4eec\u6bcf\u4e2a\u4eba\u90fd\u662f\u72ec\u4e00\u65e0\u4e8c\u7684\u3002\u4f46\u662f\u6709 14q \u91cd\u590d\u7684\u4eba\u7684\u4e00\u4e9b\u7279\u5fb5\u548c\u5065\u5eb7\u95ee\u9898\u662f\u76f8\u4f3c\u7684\u3002\u672c\u4f20\u5355\u63cf\u8ff0\u4e86\u76f8\u4f3c\u7684\u4e8b\u7269\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"478\" height=\"471\" src=\"\/nipt\/wp-content\/uploads\/2022\/12\/14q-distal-duplications-a-100_cn.jpg\" alt=\"\" class=\"wp-image-47957\"\/><figcaption class=\"wp-element-caption\">\u7b2c14\u67d3\u8272\u4f53<img alt=\"\"><\/figcaption><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"14q%E9%A2%9D%E5%A4%96%E7%9A%84%E9%83%A8%E5%88%86%E4%B8%8E%E6%9D%A5%E8%87%AA%E5%8F%8C%E4%BA%B2%E7%9A%84%E5%93%AA%E4%BD%8D%E6%9C%89%E5%85%B3%E5%90%97\"><\/span><strong>14q\u989d\u5916\u7684\u90e8\u5206\u4e0e\u6765\u81ea\u53cc\u4eb2\u7684\u54ea\u4f4d\u6709\u5173\u5417?<\/strong><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>\u989d\u5916\u7684 14 \u53f7\u67d3\u8272\u4f53\u90e8\u5206\u6765\u81ea\u6bcd\u4eb2\u6216\u7236\u4eb2\uff0c\u5176\u5f71\u54cd\u53ef\u80fd\u56e0\u5b83\u6765\u81ea\u54ea\u4e2a\u7236\u6bcd\u800c\u6709\u6240\u4e0d\u540c\u3002\u8fd9\u662f\u7531\u4e8e\u4e00\u79cd\u79f0\u4e3a\u5370\u8bb0\u7684\u73b0\u8c61\uff0c\u5176\u4e2d\u67d3\u8272\u4f53\u7684\u67d0\u4e9b\u90e8\u5206\u6839\u636e\u8d77\u6e90\u7684\u4eb2\u672c\u5177\u6709\u4e0d\u540c\u7684\u5f71\u54cd\u3002\u5370\u8bb0\u5bf9 14q \u91cd\u590d\u7684\u5f71\u54cd\u662f\u7ed9\u4e88\u53d7\u5f71\u54cd\u7684\u5a74\u513f\u6216\u513f\u7ae5\u5355\u5242\u6765\u81ea\u7236\u6bcd\u4e00\u65b9\u7684\u57fa\u56e0\u548c\u6765\u81ea\u53e6\u4e00\u65b9\u7236\u6bcd\u7684\u53cc\u5242\u91cf\u57fa\u56e0\u3002\u5df2\u77e5 14 \u53f7\u67d3\u8272\u4f53\u4e0a\u7684\u67d0\u4e9b\u57fa\u56e0\u662f\u6709\u5370\u8bb0\u7684\uff0c\u5e76\u4e14\u6709\u4e24\u4e2a\u6765\u81ea\u6bcd\u4eb2\u7684 14q \u81c2\u7684\u4eba\u4e0e\u62e5\u6709\u6765\u81ea\u7236\u4eb2\u7684\u4e24\u4e2a 14q \u81c2\u7684\u4eba\u975e\u5e38\u4e0d\u540c\uff08\u53c2\u89c1 Unique \u7684\u5173\u4e8e\u5355\u4eb2\u4e8c\u4f53 14 \u7684\u4f20\u5355\uff09\u3002\u5df2\u53d1\u73b0 14q \u91cd\u590d\u7684\u67d0\u4e9b\u7279\u5fb5\u4e0e\u67d3\u8272\u4f53\u81c2\u7684\u7279\u5b9a\u533a\u57df\u4e4b\u95f4\u5b58\u5728\u5173\u8054\u3002\u4e00\u4e9b\u8bc1\u636e\u6765\u81ea\u4e00\u4e2a\u5bb6\u5ead\u7684\u516d\u4e2a\u4eb2\u621a\uff0c\u4ed6\u4eec\u5728 14q31 \u5185\u6709\u4e00\u4e2a\u5c0f\u5e26\u91cd\u590d\uff0c\u9664\u4e86\u4e00\u4e2a\u4e2d\u5ea6\u53d1\u80b2\u8fdf\u7f13\u7684\u5b69\u5b50\u5916\uff0c\u4ed6\u4eec\u663e\u7136\u5b8c\u5168\u6b63\u5e38\u3002\u8be5\u91cd\u590d\u662f\u4ece\u6bcd\u4eb2\u90a3\u88e1\u9057\u4f20\u7684\uff0c\u8fd9\u8868\u660e 14q31 \u7684\u8fd9\u79cd\u6bcd\u7cfb\u9057\u4f20\u7684\u5c0f\u91cd\u590d\u901a\u5e38\u53ef\u80fd\u65e0\u5bb3\u3002\u5728\u53e6\u4e00\u4e2a\u5728 14q31 \u5e26\u5185\u6709\u4e0d\u540c\u5c0f\u91cd\u590d\u7684\u5bb6\u5ead\u4e2d\uff0c\u53d7\u5f71\u54cd\u6700\u4e25\u91cd\u7684\u5b69\u5b50\u4ece\u4ed6\u7684\u6bcd\u4eb2\u90a3\u88e1\u7ee7\u627f\u4e86\u91cd\u590d\uff0c\u8fd9\u8868\u660e\u5728\u8fd9\u4e2a\u5bb6\u5ead\u4e2d\uff0c\u5982\u679c\u91cd\u590d\u7269\u8d28\u662f\u4ece\u7236\u4eb2\u90a3\u91cc\u7ee7\u627f\u7684\uff0c\u5f71\u54cd\u4f1a\u66f4\u8f7b\uff08\u89c1\u6709\u91cd\u590d\u7684\u5bb6\u5ead\uff0c\u6ca1\u6709\u660e\u663e\u6548\u679c\uff0c\u7b2c 5 \u9875\uff09\u3002<\/p>\n\n\n\n<p>\u4ece\u4e2d\u53ef\u4ee5\u770b\u51fa\uff0c\u6709\u5173\u5370\u8bb0\u6548\u5e94\u7684\u4fe1\u606f\u4ecd\u5728\u5c55\u5f00\uff08Palmer 2006\uff1bSutton 2002\uff1bMignonRavix 2001\uff1bGeorgiades 1998\uff1bRobin 1997\uff09\u3002<\/p>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9D%A5%E6%BA%90%E4%B8%8E%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\"><\/span><strong>\u6765\u6e90\u4e0e\u53c2\u8003\u6587\u732e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u672c\u4f20\u5355\u4e2d\u7684\u4fe1\u606f\u90e8\u5206\u6765\u81ea\u5df2\u53d1\u8868\u7684\u533b\u5b66\u6587\u732e\u3002 \u5728\u8bb8\u591a\u60c5\u51b5\u4e0b\uff0c\u5c1a\u672a\u5bf9\u67d3\u8272\u4f53\u8fdb\u884c\u8be6\u7ec6\u7684\u5206\u5b50\u5206\u6790\uff0c\u5e76\u4e14\u6240\u8ba8\u8bba\u7684\u6848\u4f8b\u901a\u5e38\u5c06 14q \u7684\u91cd\u590d\u4e0e\u53e6\u4e00\u6761\u67d3\u8272\u4f53\u7684\u7f3a\u5931\u6216\u91cd\u590d\u7ed3\u5408\u8d77\u6765\uff0c\u4f46\u76ee\u524d\u8fd9\u662f\u6700\u597d\u7684\u4fe1\u606f\u3002<br>\u7ed9\u51fa\u7b2c\u4e00\u4f5c\u8005\u548c\u51fa\u7248\u65e5\u671f\uff0c\u4ee5\u4fbf\u60a8\u5728 PubMed \u4e2d\u67e5\u627e\u4e92\u8054\u7f51\u4e0a\u7684\u6458\u8981\u6216\u539f\u521b\u6587\u7ae0\u3002<br>\u60a8\u8fd8\u53ef\u4ee5\u4ece Unique \u83b7\u53d6\u6458\u8981\u548c\u6587\u7ae0\u3002<br>\u8be5\u4f20\u5355\u8fd8\u501f\u9274\u4e86 Unique \u7684\u6570\u636e\u5e93\u3002 \u5728\u64b0\u5199\u672c\u4f20\u5355\u65f6\uff0cUnique \u6709 44 \u540d\u6210\u5458\u5177\u6709 14q \u67d3\u8272\u4f53\u91cd\u590d\uff0c\u5176\u4e2d 24 \u540d\u6210\u5458\u5177\u6709\u7eaf 14q \u91cd\u590d\u3002 \u670918 \u4e2a\u5bb6\u5ead\u5728 2006 \u5e74\u5b8c\u6210\u4e86\u8be6\u7ec6\u7684\u95ee\u5377\u8c03\u67e5\u3002<\/p>\n<\/div><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"14q%E7%9A%84%E5%AE%8C%E5%85%A8%E9%87%8D%E5%A4%8D%E6%9F%93%E8%89%B2%E4%BD%93%E4%B8%89%E4%BD%93%E7%BB%BC%E5%90%88%E7%97%87\"><\/span><strong>14q\u7684\u5b8c\u5168\u91cd\u590d(\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\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\" style=\"flex-basis:30%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"176\" height=\"547\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-b.png\" alt=\"\" class=\"wp-image-18299\"\/><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:70%\">\n<p>\u6709\u53ef\u80fd\u6000\u4e0a\u4e00\u4e2a\u5b8c\u6574\u7684 14 \u53f7\u67d3\u8272\u4f53\u957f\u81c2\u7684\u5a74\u513f\u3002 \u8fd9\u79cd\u60c5\u51b5\u6700\u5e38\u53d1\u751f\u5728\u7236\u6bcd\u4e00\u65b9\u643a\u5e26\u7f57\u4f2f\u900a\u6613\u4f4d\u65f6\uff0c\u5176\u4e2d 14 \u53f7\u67d3\u8272\u4f53\u7684\u957f\u81c2\u4e0e\u53e6\u4e00\u6761\u67d3\u8272\u4f53\u7684\u957f\u81c2\u878d\u5408\uff0c\u5927\u591a\u6570\u60c5\u51b5\u4e0b\u7ecf\u5e38\u51fa\u73b0\u5728 13 \u53f7\u67d3\u8272\u4f53\u4e0a\uff0c\u6216\u8005\u6309\u7167\u9891\u7387\u7684\u964d\u5e8f\uff0c\u51fa\u73b0\u5728 21\u300115\u300122 \u6216 14 \u53f7\u67d3\u8272\u4f53\u4e0a\u3002\u7136\u800c\uff0c\u6d41\u4ea7\u662f\u5e38\u6001\uff0c\u5177\u6709\u5b8c\u5168\u989d\u5916 14q \u7684\u5a74\u513f\u901a\u5e38\u65e0\u6cd5\u5b58\u6d3b\u5230\u51fa\u751f\u3002\u5728\u90a3\u4e9b\u5b58\u6d3b\u4e0b\u6765\u7684\u5a74\u513f\u4e2d\uff0c\u7edd\u5927\u591a\u6570\u6709\u4e00\u4e9b\u7ec6\u80de\u7684\u67d3\u8272\u4f53\u6570\u91cf\u6b63\u5e38\uff0c\u4e00\u4e9b\u7ec6\u80de\u5177\u6709\u989d\u5916\u7684 14q\u3002\u8fd9\u88ab\u79f0\u4e3a 14 \u53f7\u9576\u5d4c\u4e09\u4f53\u75c7\u3002 14 \u53f7\u9576\u5d4c\u4e09\u4f53\u75c7\u513f\u7ae5\u9762\u4e34\u7684\u95ee\u9898\u5f80\u5f80\u6bd4\u90e8\u5206\u91cd\u590d\u513f\u7ae5\u9762\u4e34\u7684\u95ee\u9898\u66f4\u4e25\u91cd\uff0c\u5305\u62ec\u751f\u957f\u548c\u53d1\u80b2\u8fdf\u7f13\u3001\u4e0d\u5bfb\u5e38\u7684\u672c\u4f20\u5355\u8003\u8651\u4e86\u90e8\u5206\u67d3\u8272\u4f53 14q \u7684\u91cd\u590d\u3002\u8003\u8651 14q22 \u548c 14q32 \u4e4b\u95f4\u7684\u5927\u91cd\u590d\u4ee5\u53ca\u8fd1\u7aef\u5ef6\u4f38\u81f3 14q13 \u548c\u8fdc\u7aef\u5305\u62ec\u957f\u81c2\u672b\u7aef\u7684\u91cd\u590d\u3002<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"14q22%E5%92%8C14q32%E4%B9%8B%E9%97%B4%E7%9A%84%E5%A4%A7%E9%87%8F%E9%87%8D%E5%A4%8D\"><\/span><strong>14q22\u548c14q32\u4e4b\u95f4\u7684\u5927\u91cf<\/strong>\u91cd\u590d<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\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\" style=\"flex-basis:30%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"176\" height=\"547\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-c.png\" alt=\"\" class=\"wp-image-18301\"\/><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:70%\">\n<p>\u533b\u5b66\u6587\u732e\u4e2d\u62a5\u544a\u4e86\u5927\u7ea6 8 \u4f8b\u75c5\u4f8b\uff0c\u5176\u4e2d\u5305\u62ec\u4e00\u4efd\u62a5\u544a\uff0c\u5f53\u4e2d\u4e0d\u6b62\u4e00\u540d\u5bb6\u5ead\u6210\u5458\u53d7\u5230\u5f71\u54cd\uff0c\u4ee5\u53ca\u5728 14q31 \u548c q32 \u6ce2\u6bb5\u5185\u6709\u8f83\u5c0f\u91cd\u590d\u7684 Unique \u6210\u5458\u3002 \u6b64\u5916\uff0c\u6709\u62a5\u5bfc\u79f0\u81f3\u5c11\u6709\u6765\u81ea\u4e09\u4e2a\u5bb6\u65cf\u7684 12 \u4e2a\u4eb2\u5c5e\u5177\u6709\u5c0f\u91cd\u590d\u7684 14q31 \u5e26\u6216\u4ece 14q24.3 \u5230 14q31 \u7684\u8f83\u5927\u91cd\u590d\u5bf9\u53d1\u80b2\u6ca1\u6709\u660e\u663e\u5f71\u54cd\uff08Palmer 2006; Mignon-Ravix 2001; Robin 1997; North 1995\uff1bRivera 1992\uff1bGilgenkrantz 1990\/2\uff1bMikelsaar 1987\uff1bSobel 1984\uff1bNikolis 1983\uff1bOrye 1983\uff1bUnique\uff09\u3002<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%9C%A814q222414q32%E7%BE%A4%E5%86%85%E7%9A%84%E9%87%8D%E5%A4%8D\"><\/span><strong>\u572814q22~24~14q32\u7fa4\u5185\u7684<\/strong>\u91cd\u590d<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>14q22~24 \u5230 14q32 \u91cd\u590d\u6bb5\u7684\u62a5\u544a\u5305\u62ec\u4e00\u4e2a 29 \u5c81\u7684\u60a3\u8005\u548c\u4ed6\u7684\u4f84\u5b50\uff08Rivera 1992\uff1bGilgenkrantz 1990\/2\uff1bMikelsaar 1987\uff1bSobel 1984\uff1bNikolis 1983\uff1bOrye 1983\uff09\u3002\u7279\u5fb5\u901a\u5e38\u4e0d\u662f\u5f88\u5177\u4f53\uff0c\u4f46\u5305\u62ec\u4f4e\u51fa\u751f\u4f53\u91cd\uff08\u8303\u56f4\u4e3a 2.25 \u516c\u65a4\/4 \u78c5 15 \u76ce\u53f8\u81f3 2.9 \u516c\u65a4\/6 \u78c5 6 \u76ce\u53f8\uff09\uff1b\u5728\u67d0\u4e9b\u60c5\u51b5\u4e0b\uff0c\u7ae5\u5e74\u65f6\u8eab\u9ad8\u77ee\u5c0f\uff1b\u53d1\u80b2\u8fdf\u7f13\uff1b\u8a00\u8bed\u8fdf\u7f13\u548c\u5b66\u4e60\u56f0\u96be\u3002\u62a5\u544a\u7684\u5065\u5eb7\u95ee\u9898\u975e\u5e38\u4e25\u91cd\uff0c\u5176\u4e2d\u5305\u62ec\u4e24\u4e2a\u5a74\u513f\u7684\u5fc3\u810f\u95ee\u9898\uff08\u5728\u4e00\u4e2a\u6848\u4f8b\u4e2d\u4e3a\u5ba4\u95f4\u9694\u7f3a\u635f (VSD)\uff0c\u5373\u5fc3\u810f\u4e0b\u8154\u4e4b\u95f4\u7684\u4e00\u4e2a\u6d1e\uff09\u3002 VSD \u7684\u5177\u4f53\u6cbb\u7597\u65b9\u6cd5\u662f\u5355\u72ec\u786e\u5b9a\u7684\uff0c\u56e0\u4e3a\u5c0f\u5b54\u53ef\u80fd\u4f1a\u81ea\u7136\u95ed\u5408\uff0c\u4f46\u8f83\u5927\u7684 VSD \u901a\u5e38\u9700\u8981\u624b\u672f\u4fee\u5fa9\u3002\u4e00\u540d\u513f\u7ae5\u53d7\u5230\u4e25\u91cd\u5f71\u54cd\uff0c\u540e\u5c3f\u9053\u74e3\u819c\uff08\u8ba9\u5c3f\u6db2\u4ece\u8180\u80f1\u6d41\u51fa\u7684\u74e3\u819c\u963b\u585e\uff09\u548c\u80be\u8870\u7aed\u4ee5\u53ca\u80ba\u90e8\u53d1\u80b2\u4e0d\u826f\u3002\u89c6\u529b\u548c\u542c\u529b\u90fd\u53ef\u80fd\u53d7\u5230\u5f71\u54cd\uff0c\u5305\u62ec\u7531\u4e8e\u7c98\u8033\u9020\u6210\u7684\u6682\u65f6\u6027\u969c\u788d \u3002\u53e6\u4e00\u4e2a\u5b69\u5b50\uff0814q22q24.3 \u91cd\u590d\uff09\u9f3b\u9053\u963b\u585e\uff0c\u9700\u8981\u77eb\u6b63\u624b\u672f\uff08\u540e\u9f3b\u5b54\u95ed\u9501\uff09\u3001\u514d\u75ab\u7f3a\u9677\u3001\u5927 VSD \u548c\u751f\u6b96\u5668\u5f02\u5e38\uff08North 1995\uff09\u3002\u5728\u8fd9\u7ec4\u4e2d\uff0c\u6709\u4e24\u540d\u5a74\u513f\u6b7b\u4ea1\uff0c\u4e00\u540d\u5728 4 \u4e2a\u6708\u65f6\u6b7b\u4ea1\uff0c\u53e6\u4e00\u540d\u5728 10 \u4e2a\u6708\u65f6\u6b7b\u4ea1\u3002<br>\u5728\u67d0\u4e9b\u60c5\u51b5\u4e0b\uff0c\u53cc\u624b\u6709\u8f7b\u5fae\u7684\u5f02\u5e38\u7279\u5fb5\uff0c\u5305\u62ec\u5355\u624b\u638c\u7eb9\u3001\u77ed\u624b\u6307\u6216\u9525\u5f62\u624b\u6307\uff1b\u4e24\u4e2a\u5177\u6709 14q24q32 \u91cd\u590d\u7684\u5a74\u513f\u5177\u6709\u76f8\u4f3c\u7684\u957f\u62c7\u6307\u548c\u4e2d\u6307\u88ab\u76f8\u90bb\u624b\u6307\u91cd\u590d\u7684\u6a21\u5f0f\u3002\u4e24\u4e2a\u5b69\u5b50\u51fa\u751f\u65f6\u4ed6\u4eec\u7684\u811a\u5904\u4e8e\u9a6c\u8e44\u5185\u7ffb\u7578\u5f62\u4f4d\u7f6e\uff08\u9a6c\u8e44\u5185\u7ffb\u8db3\uff09\uff0c\u5176\u4e2d\u811a\u5411\u4e0b\u548c\u5411\u5185\uff0c\u9700\u8981\u77eb\u6b63\uff0c\u901a\u5e38\u9700\u8981\u624b\u672f\u3002\u5173\u6ce8\u5728 14q23.3 \u548c 14q32.3 \u4e4b\u95f4\u91cd\u590d\u7a0d\u5c0f\u7684\u4e2a\u4f53\uff0c\u5f71\u54cd\u901a\u5e38\u8f83\u8f7b\uff0c\u4e00\u822c\u53d1\u80b2\u8fdf\u7f13\u7a0b\u5ea6\u8f83\u8f7b\u3002\u5728\u884c\u52a8\u80fd\u529b\u65b9\u9762\uff0c\u4ece\u73b0\u6709\u8d44\u6599\u6765\u770b\uff0c\u7ffb\u8eab\u5927\u7ea6\u5728 6-7 \u4e2a\u6708\u5de6\u53f3\uff0c\u5750\u4e0b\u5927\u7ea6 9 \u81f3 15 \u4e2a\u6708\uff0c\u5728\u4e00\u5c81\u5de6\u53f3\u72ec\u7acb\u79fb\u52a8\uff0c\u5728\u751f\u547d\u7684\u7b2c\u4e8c\u5e74\u8f83\u665a\u8d70\u8def\u3002<br>\u7136\u800c\uff0c\u5e76\u975e\u6240\u6709\u4eba\u90fd\u53ef\u4ee5\u8d70\u8def\uff0c\u5e76\u4e14\u6709 14q22q24.3 \u91cd\u590d\u7684\u5b69\u5b50\u5728\u56db\u5c81\u534a\u65f6\u65e2\u4e0d\u4f1a\u8d70\u8def\u4e5f\u4e0d\u4f1a\u8bf4\u8bdd\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%9C%A814q3114q32%E7%BE%A4%E5%86%85%E7%9A%84%E5%B0%8F%E9%83%A8%E5%88%86%E9%87%8D%E5%A4%8D\"><\/span><strong>\u572814q31~14q32\u7fa4\u5185\u7684\u5c0f\u90e8\u5206<\/strong>\u91cd\u590d<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u4ece\u73b0\u6709\u7684\u6709\u9650\u7684Unique\u4fe1\u606f\u4e2d\uff0c\u51fa\u73b0\u4e86\u4e24\u4e2a\u4e3b\u8981\u7684\u4e34\u5e8a\u95ee\u9898\u3002 \u4e00\u4e2a\u5728<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5e2614q32\u5185\u7684\u91cd\u590d<\/a>\u7684\u5b69\u5b50\u51fa\u73b0\u4e86\u5931\u795e\u53d1\u4f5c\uff0c\u7528\u6297\u766b\u75eb\u836f\u7269\u63a7\u5236\u4e86\u3002 \u53e6\u4e00\u4e2a\u5b69\u5b50\u7684\u773c\u76ae\u5f88\u77ed\uff0c\u65e0\u6cd5\u95ed\u4e0a\u773c\u775b\u3002 \u8fd9\u79cd\u60c5\u51b5\u4e5f\u89c1\u4e8e\u5176\u4ed6<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14q\u91cd\u590d<\/a>\u7684\u75c5\u4eba\uff0c\u9700\u8981\u624b\u672f\u77eb\u6b63\uff0c\u4e4b\u540e\u89c6\u529b\u4f3c\u4e4e\u53ef\u4ee5\u6b63\u5e38\u53d1\u80b2(\u53c2\u89c1Haley\uff0c\u7b2c12~13\u9875)\u3002<br>\u53d1\u80b2\u4e5f\u53d7\u5230\u5f71\u54cd\uff0c\u5728\u7b2c\u4e8c\u5e74\u6216\u7b2c\u4e09\u5e74\u51fa\u73b0\u4e86\u4e2d\u5ea6\u7684\u884c\u52a8\u8fdf\u7f13\u3001\u808c\u5f20\u529b\u51cf\u9000(\u808c\u8089\u5f20\u529b\u4f4e\u4e0b)\u548c\u5b9e\u73b0\u884c\u8d70\u3002\u6ca1\u6709\u5173\u4e8eFine\u30fbMotor\u30fbSkill\u7684\u5177\u4f53\u4fe1\u606f\uff0c\u4f46\u6709\u4e00\u4e2a\u5b69\u5b50\u57287\u5e74\u540e\u63e1\u7b14\u5199\u5b57\u65f6\u6709\u5f88\u5927\u56f0\u96be\u3002\u9605\u8bfb\u5e74\u9f84\u8868\u660e\uff0c\u8fd9\u4e9b\u513f\u7ae5\u57283~4\u5c81\u65f6\u5f00\u53e3\u8bf4\u8bdd\uff0c\u57286~8\u5c81\u65f6\u5f00\u59cb\u9605\u8bfb\u3002 \u5728\u5927\u7ea64\u5e74\u7684\u65f6\u95f4\u91cc\uff0c\u4ed6\u4eec\u6bcf\u5929\u90fd\u6210\u529f\u5730\u4fdd\u6301\u6e05\u6d01\u548c\u5e72\u71e5(Unique)\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9C%89%E9%87%8D%E5%A4%8D%EF%BC%8C%E4%BD%86%E6%97%A0%E6%98%8E%E6%98%BE%E5%BD%B1%E5%93%8D%E7%9A%84%E5%AE%B6%E5%BA%AD\"><\/span>\u6709\u91cd\u590d\uff0c\u4f46\u65e0\u660e\u663e\u5f71\u54cd\u7684\u5bb6\u5ead<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5728\u4e00\u4e2a\u5bb6\u7cfb\u4e2d\uff0c\u67096\u540d\u6210\u5458\u4ece\u6bcd\u4eb2\u90a3\u91cc\u9057\u4f20\u4e86<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14q31\u76f8\u540c\u7684\u91cd\u590d<\/a>\uff0c\u4f46\u57285\u4e2a\u6848\u4f8b\u4e2d\u5bf9\u53d1\u80b2\u6216\u751f\u957f\u6ca1\u6709\u660e\u663e\u7684\u5f71\u54cd\u3002 \u5728\u7b2c6\u4e2a\u5bb6\u65cf\u6210\u5458\u4e2d\uff0c\u8fd9\u79cd\u590d\u5236\u53ef\u80fd\u5728\u4ed6\u7684\u53d1\u80b2\u8fdf\u7f13\u4e2d\u6ca1\u6709\u8d77\u5230\u4efb\u4f55\u4f5c\u7528(Mignon-Ravix 2001)\u3002 \u5728\u53e6\u4e00\u4e2a\u5bb6\u5ead\u4e2d\uff0c\u67094\u4e2a\u6210\u5458\u7684\u57fa\u56e0\u5e26<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14q31\u7684\u4e00\u90e8\u5206\u6709\u4e00\u4e2a\u5c0f\u7684\u91cd\u590d<\/a>\u3002\u5c3d\u7ba1\u4e2a\u522b\u5bb6\u5ead\u6210\u5458\u6709\u5404\u79cd\u95ee\u9898\uff0c\u5305\u62ec\u53d1\u80b2\u8fdf\u7f13\u548c\u767d\u5185\u969c\uff0c\u56e0\u4e3a\u6709\u91cd\u590d\u7684\u90a31\u4e2a\u5bb6\u5ead\u6210\u5458\u5728\u4e34\u5e8a\u4e0a\u548c\u53d1\u80b2\u4e0a\u662f\u6b63\u5e38\u7684\uff0c\u53d1\u73b0\u7684\u5c0f\u7684\u91cd\u590d\u53ef\u80fd\u4e0d\u662f\u95ee\u9898\u7684\u539f\u56e0(Palmer 2006)\u3002 \u57281\u4e2a\u7236\u4eb2\u8eab\u4e0a\uff0c\u7236\u4eb2\u4e0e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14q24.3q31\u91cd\u590d<\/a>\u7684\u5973\u513f\uff0c\u7236\u4eb2\u672a\u53d7\u5f71\u54cd\uff0c\u5973\u513f\u5219\u6709\u8f7b\u5fae\u7684\u5f71\u54cd(Robin 1997)\u3002<br>\u5bf9\u5176\u4e2d\u4e00\u4e9b\u53d1\u73b0\u7684\u4e00\u4e2a\u53ef\u80fd\u7684\u89e3\u91ca\u662f\uff0c\u590d\u5236\u53d6\u51b3\u4e8e\u6765\u6e90\u7684\u7236\u6bcd\uff0c\u8fd9\u53ef\u80fd\u6709\u4e0d\u540c\u7684\u5f71\u54cd(\u770b14q\u7684\u989d\u5916\u7247\u6bb5\u6765\u81ea\u54ea\u4f4d\u7236\u6bcd)\u3002 3\u9875<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"14q13%E5%88%B014q243%E9%95%BF%E8%87%82%E6%9C%AB%E7%AB%AF%E7%9A%84%E5%A4%A7%E9%87%8F%E9%87%8D%E5%A4%8D\"><\/span><strong>14q13\u523014q24.3\u957f\u81c2\u672b\u7aef\u7684\u5927\u91cf\u91cd\u590d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\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\" style=\"flex-basis:30%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"176\" height=\"547\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-d.png\" alt=\"\" class=\"wp-image-18303\"\/><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:70%\">\n<p>\u533b\u5b66\u6587\u732e\u4e2d\u5df2\u7ecf\u62a5\u9053\u4e8611\u4e2a\u5a74\u513f\u548c\u6000\u5b55\uff0cUnique\u7684\u6210\u5458\u4e2d\uff0c\u4ece14q13\u523014q24.3\u4e4b\u95f4\u5f00\u59cb\uff0c\u60a3\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u67d3\u8272\u4f5314q\u7684\u957f\u81c2\u7684\u7eaf\u7cb9\u91cd\u590d<\/a>\u7684\u4eba\u67093\u4eba\u3002\u8fd9\u76f8\u5f53\u4e8e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u67d3\u8272\u4f53\u7684\u957f\u81c2\u76843\u5206\u4e4b1\u52303\u5206\u4e4b2\u4e4b\u95f4\u7684\u91cd\u590d<\/a>\u3002 \u5728\u8bb8\u591a\u60c5\u51b5\u4e0b\uff0c\u91cd\u590d\u662f\u4e0e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u522b\u7684\u67d3\u8272\u4f53\u7684\u7f3a\u5931\u6216\u91cd\u590d<\/a>\u4e00\u8d77\u53d1\u751f\u7684\uff0c\u4f46\u8fd9\u91cc\u53ea\u63cf\u8ff0\u4e86\u6d89\u53ca\u7eaf\u7cb9\u91cd\u590d\u7684\u4e2a\u4f53\uff0c\u6216\u662f\u6709\u8bb0\u8f7d\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5305\u542b13\u53f7\u300114\u53f7\u300115\u53f7\u300121\u53f7\u300122\u53f7\u67d3\u8272\u4f53\u7684\u77ed\u81c2\u7684\u91cd\u590d<\/a>\u7ec4\u5408\u7684\u4e2a\u4f53\uff0c\u800c\u4e14\u8fd9\u4e9b\u9884\u8ba1\u4e0d\u4f1a\u5f71\u54cd\u7ed3\u679c\u3002 \u63a5\u4e0b\u6765\u662f\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14q\u7684\u91cd\u590d<\/a>\u7684Unique\u6210\u5458\u7684\u6545\u4e8b\uff0c\u7f3a\u5931\u6216\u8fdb\u4e00\u6b65\u7684\u91cd\u590d\u7ec4\u5408\u7ee7\u7eed\u51fa\u73b0\u3002<br>\u4e00\u822c\u6765\u8bf4\uff0cUnique\u7684\u7ecf\u9a8c\u662f\uff0c\u6210\u5458\u6bd4\u5176\u5728\u533b\u5b66\u6587\u732e\u4e2d\u7684\u63cf\u8ff0\u8981\u597d(Ohtake 1994; Duckett 1990; Nakamura 1990; Gilgenkrantz 1990\/1; McCorquodale 1985; Kaiser 1984; Sklower 1984; Atkin 1983; Cohen 1983; Georgmaneanu 1981; Pfeiffer 1978; Fryns 1977; Trunca 1977; Weinstein 1977; Unique)\u3002<br>8\u6b21\u6000\u5b55\u4e2d\uff0c\u67092\u6b21\u4ee5\u65e9\u4ea7\u544a\u7ec8\u3002\u8db3\u6708\u5a74\u513f\u7684\u51fa\u751f\u4f53\u91cd\u4ece1.83kg(4lb 1oz)\u52303.8kg(8lb 6oz)\u4e0d\u7b49\uff0c\u8fd9\u9ad8\u4e8e\u65b0\u751f\u513f\u7684\u5e73\u5747\u4f53\u91cd\u3002 \u8bb8\u591a\u5a74\u513f\u6210\u957f\u4e3a\u77ee\u5c0f\u7684\u513f\u7ae5\u3002\u4e0d\u5e78\u7684\u662f\uff0c\u8bb8\u591a\u5a74\u513f\u6709\u91cd\u5927\u7684\u533b\u7597\u95ee\u9898\u9700\u8981\u514b\u670d\uff0c14\u4eba\u4e2d\u67097\u4eba\u53d1\u751f\u4e86\u8fd9\u79cd\u60c5\u51b5\uff0c\u7279\u522b\u662f\u5fc3\u810f\u7f3a\u9677\u548c\u5927\u8840\u7ba1\u7578\u5f62\u3002<\/p>\n<\/div>\n<\/div>\n\n\n\n<p>\u533b\u5b66\u6587\u732e\u4e2d\u89c2\u5bdf\u5230\uff0c\u5305\u62ec\u5c06\u8179\u90e8\u5185\u5bb9\u7269\u4e0e\u80f8\u90e8\u5206\u5f00\u7684\u6a2a\u8188\u819c\u7684\u5927\u759d\u6c14\uff0c\u5c0f\u80be\u810f\u4f34\u6709\u591a\u4e2a\u56ca\u80bf\uff0c\u8111\u6881(\u8fde\u63a5\u5927\u81112\u4e2a\u534a\u7403\u7684\u7c97\u7684\u795e\u7ecf\u7ea4\u7ef4\u533a)\u6b20\u7f3a\uff0c\u766b\u75eb\u53d1\u4f5c\u7b49\u4e00\u7cfb\u5217\u4e25\u91cd\u7684\u95ee\u9898\u3002 \u6b64\u5916\uff0c\u56db\u4e2a\u65b0\u751f\u513f\uff0c\u5305\u62ec\u4e24\u4e2a\u5973\u5b69\uff0c\u5728\u751f\u6b96\u5668\u90e8\u4f4d\u6709\u5f02\u5e38\uff0c\u81f3\u5c11\u6709\u4e00\u4e2a\u6709\u4e25\u91cd\u7684\u89c6\u89c9\u969c\u788d\u3002\u4e0d\u5e78\u7684\u662f\uff0c\u6709\u4e24\u4e2a\u65b0\u751f\u513f\u5728\u51fa\u751f\u540e\u7684\u5934\u51e0\u4e2a\u6708\u91cc\u6b7b\u4ea1\u3002\u4e24\u4e2a\u5177\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14q\u7684\u91cd\u590d<\/a>\u4e0e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u522b\u7684\u67d3\u8272\u4f53\u7684\u7f3a\u5931\u6216\u91cd\u590d<\/a>\u7684Unique\u6210\u5458\u4e5f\u6b7b\u4ea1\u4e86\uff0c\u8fd9\u4e24\u4e2a\u6848\u4f8b\u90fd\u662f\u7531\u4e8e\u547c\u5438\u9053\u611f\u67d3\u9020\u6210\u3002<br>\u80a2\u4f53\u7684\u8f7b\u5fae\u7578\u5f62\u548c\u67d0\u4e9b\u9762\u90e8\u7279\u5f81\u5728\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u5a74\u513f\u548c\u513f\u7ae5\u4e2d\u5f88\u5e38\u89c1\uff0c\u4f46\u5f53\u5b83\u4eec\u5f71\u54cd\u5230\u5b69\u5b50\u7684\u529f\u80fd\u65f6\uff0c\u5219\u662f\u5bb6\u5ead\u7684\u9996\u8981\u5173\u6ce8\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\"> 14q\u7684\u91cd\u590d<\/a>\u5f88\u5927\u7684\u5a74\u513f\uff0c\u6709\u7b2c\u4e94\u6307\u624b\u6307\u548c\u811a\u8dbe\u7684\u91cd\u590d\uff0c\u6709\u4e00\u4e2a\u5a74\u513f\u6709\u5916\u7ffb\u5c0f\u817f(\u5185\u53cd\u8db3)\uff0c\u811a\u7684\u5916\u4fa7\u4e0e\u4e0b\u65b9\uff0c\u8fd9\u662f\u4e00\u79cd\u4f4d\u7f6e\u53d8\u5f62\u3002 \u5728\u89c2\u5bdf\u5230\u7684\u5f02\u5e38\u9762\u90e8\u7279\u5f81\u4e2d\uff0c\u6709\u7a81\u51fa\u7684\u989d\u5934\u3001\u7a81\u51fa\u7684\u9f3b\u5b50\u3001\u5c0f\u4e0b\u5df4\u3001\u4e0b\u988c\u9aa8\u3001\u5f02\u5e38\u7684\u8033\u6735\u3001\u7a81\u51fa\u7684\u4e0a\u5507\u3001\u9ad8\u989d\u5934\u548c\u6cc9\u95e8(\u5934\u9876\u4e0a\u7684\u6591\u70b9)\uff0c\u8fd9\u662f\u95ed\u5408\u7f13\u6162\u5e76\u5411\u4e0b\u7ffb\u8f6c\uff0c\u773c\u775b\u5927\u5927\u5206\u5f00\uff0c\u53ef\u80fd\u8fd8\u6709\u7a00\u758f\u7684\u5934\u53d1\u751f\u957f\u3002<br>\u816d\u90e8\u5f02\u5e38\u9ad8\u6216\u72ed\u7a84\u3002\u5728\u4e00\u4e2a\u5a74\u513f\u8eab\u4e0a\u53d1\u73b0\u7684\u4e00\u4e2a\u975e\u5e38\u7f55\u89c1\u7684\u73b0\u8c61\u662f\uff0c\u4e0b\u773c\u7751\u7684\u53d1\u80b2\u5f02\u5e38\uff0c\u8fd9\u4f7f\u5f97\u773c\u775b\u96be\u4ee5\u95ed\u5408\u6216\u65e0\u6cd5\u95ed\u5408\uff0c\u9700\u8981\u901a\u8fc7\u624b\u672f\u77eb\u6b63\u3002\u8fd9\u79cd\u7f3a\u9677\u4e5f\u5728\u4e24\u4e2a\u5177\u670914q\u7684\u672b\u7aef\u91cd\u590d\u7684Unique\u5c0f\u6210\u5458\u4e2d\u53d1\u73b0(Gilgenkrantz 1990\u3001Haley\u3001\u53c2\u716712~3\u9875)\u3002<br>\u5927\u591a\u6570\u65b0\u751f\u513f\u8981\u4e48\u662f\u808c\u8089\u4f4e\u5f20\u529b(\u7531\u4e8e\u808c\u5f20\u529b\u964d\u4f4e\u800c\u611f\u5230\u808c\u8089\u65e0\u529b)\uff0c\u8981\u4e48\u662f\u4f4e\u5f20\u529b\u548c\u9ad8\u5f20\u529b\u7684\u6df7\u5408\uff0c\u9020\u6210\u808c\u8089\u9ad8\u5f20\u529b\u3002\u53d1\u80b2\u8fdf\u7f13\uff0c\u4e3a\u4e86\u8fbe\u5230\u5982\u5750\u7acb\u7b49\u53d1\u5c55\u7684\u91cc\u7a0b\u7891\uff0c\u5a74\u513f\u9700\u8981\u5927\u91cf\u7684\u652f\u6301\u3002<br>\u8fdc\u7aef<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14q\u91cd\u590d<\/a>\u5f88\u5927\u7684\u513f\u7ae5\u540e\u671f\u53d1\u80b2\u7684\u8d44\u6599\u662f\u6709\u9650\u7684\uff0c\u4f46\u6709\u4e00\u4f4d\u5e74\u8f7b\u7537\u6027\u572827\u5c81\u65f6\u88ab\u63cf\u8ff0\u4e3a\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14q21\u5f00\u59cb\u7684\u5927\u7684\u91cd\u590d<\/a>\u4e0e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">3\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u7684\u672b\u7aef\u5f00\u59cb\u7684\u5c0f\u7684\u7f3a\u5931<\/a>(3p25\u7684\u5207\u65ad\u70b9)\u3002 \u5728\u4ed6\u7684\u6848\u4f8b\u4e2d\uff0c\u4ed6\u5df2\u7ecf\u6210\u529f\u5730\u5ea6\u8fc7\u4e86\u9752\u6625\u671f\uff0c\u4f46\u6bd4\u9884\u671f\u7684\u665a\u4e8610\u5e74\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AE%89%E5%BE%B7%E9%B2%81\"><\/span><strong>\u5b89\u5fb7\u9c81<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5b89\u5fb7\u9c81\u6709\u4e00\u4e2a\u6765\u81ea<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7b2c1\u67d3\u8272\u4f53\u957f\u81c2\u7684\u672b\u7aef\u7684\u7f3a\u5931<\/a>\uff0c1q44\u5904\u6709\u5207\u65ad\u70b9\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7b2c14\u67d3\u8272\u4f53\u957f\u81c2\u7ea63\u5206\u4e4b1\u5904\u6709\u91cd\u590d<\/a>\uff0c14q24.3\u5904\u6709\u5207\u65ad\u70b9\u3002<br>\u5728\u51fa\u751f\u65f6\uff0c\u5b89\u5fb7\u9c81\u53ea\u67092.4kg(5\u78c55\u76ce\u53f8)\u4f53\u91cd\u7565\u4f4e\uff0c\u808c\u8089\u5f20\u529b\u5f02\u5e38\u4f4e\u3002 \u4ed6\u662f\u7528\u6bcd\u4e73\u5582\u517b\u7684\uff0c\u4f46\u5582\u517b\u901f\u5ea6\u5f88\u6162\uff0c\u5728\u4ed6\u51fa\u751f\u540e\u7684\u524d\u4e5d\u4e2a\u6708\u91cc\uff0c\u4ed6\u7684\u751f\u957f\u901f\u5ea6\u4e00\u76f4\u8ffd\u8e2a\u7740\u751f\u957f\u66f2\u7ebf\u4e0a\u7684\u6700\u4f4e\u66f2\u7ebf\uff0c\u540e\u6765\u4ed6\u88ab\u9001\u4e0a\u56fa\u4f53\u98df\u7269\uff0c\u624d\u5f00\u59cb\u8ffd\u8d76\u4e0a\u6765\u3002 10\u5c81\u65f6\uff0c\u6bd4\u4ed6\u7684\u540c\u5b66\u4eec\u8981\u77ee\u4f53\u91cd\u4e3a27\u516c\u65a4\u3002<br>\u5b89\u5fb7\u9c81\u603b\u4f53\u4e0a\u662f\u5065\u5eb7\u7684\uff0c\u5e76\u4e14\u67d3\u4e0a\u4e86\u5f71\u54cd\u5e7c\u513f\u7684\u6b63\u5e38\u8303\u56f4\u7684\u611f\u5192\u548c\u54b3\u55fd\u3002\u6cea\u9053\u611f\u67d3\u7528\u6297\u751f\u7d20\u6cbb\u7597\u3002\u4ed6\u6234\u7740\u773c\u955c\u30025\u5c81\u65f6\uff0c\u4ed6\u505a\u4e86\u964d\u4f4e\u777e\u4e38\u7684\u624b\u672f\u3002\u777e\u4e38\u6ca1\u6709\u964d\u5230\u9634\u56ca\u91cc\u3002 \u4ed6\u51fa\u751f\u65f6\uff0c\u5634\u7684\u524d\u9762\u6709\u5c0f\u7259\u3002 \u8fd9\u4e9b\u7259\u9f7f\u6700\u7ec8\u90fd\u8131\u843d\u4e86\uff0c\u6210\u5e74\u7259\u9f7f\u4e5f\u6b63\u5e38\u5730\u957f\u51fa\u6765\u4e86\u3002<\/p>\n\n\n\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\" style=\"flex-basis:50%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"300\" height=\"441\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-e.jpg\" alt=\"\" class=\"wp-image-18305\"\/><figcaption class=\"wp-element-caption\">2\u5c81<\/figcaption><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"300\" height=\"415\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-f.jpg\" alt=\"\" class=\"wp-image-18307\"\/><figcaption class=\"wp-element-caption\">3~4\u5c81<\/figcaption><\/figure><\/div><\/div>\n<\/div>\n\n\n\n<p>\u5b89\u5fb7\u9c81\u7684\u603b\u4f53\u53d1\u80b2\u8fdf\u7f13\uff0c\u4f46\u4ece9\u5c81\u8d77\u4ed6\u53d6\u5f97\u4e86\u76f8\u5f53\u5927\u7684\u8fdb\u6b65\u300210\u5c81\u65f6\uff0c\u4ed6\u4ecd\u7136\u9700\u8981\u4e2a\u4eba\u62a4\u7406\uff0c\u4f46\u80fd\u591f\u7528\u53c9\u5b50\u5403\u996d\uff0c\u7528\u5e26\u6574\u4f53\u5438\u7ba1\u7684\u5bc6\u5c01\u676f\u559d\u6c34\u3002\u4ed6\u8fd8\u638c\u63e1\u4e86\u7535\u8111\u9f20\u6807\u548c\u7535\u89c6\u9065\u63a7\u5668\u3002<br>\u5b89\u5fb7\u9c81\u7684\u4e3b\u8981\u7684\u65b9\u5f0f\u662f\u56db\u5904\u8d70\u52a8\u3002 \u5728\u4e0d\u5e73\u5766\u7684\u8def\u9762\u4e0a\u6216\u957f\u8ddd\u79bb\u884c\u8d70\u65f6\uff0c\u4ed6\u559c\u6b22\u7275\u7740\u5927\u4eba\u7684\u624b\uff0c\u4ed6\u7684\u5bb6\u4eba\u5728\u6237\u5916\u4f7f\u7528\u5a74\u513f\u8f66\u3002\u5b89\u5fb7\u9c81\u4e5f\u53ef\u4ee5\u5728\u6210\u4eba\u7684\u966a\u540c\u4e0b\u8d70\u4e0a\u697c\u68af\uff0c\u4f46\u4e0d\u80fd\u5355\u72ec\u4ece\u5730\u677f\u4e0a\u7ad9\u8d77\u6765\u3002<br>\u5b89\u5fb7\u9c81\u7684\u811a\u5f88\u5c0f\uff0c\u800c\u4e14\u5f88\u5c11\u6709\u8db3\u5f13\u3002<\/p>\n\n\n\n<p>\u4e3a\u4e86\u523a\u6fc0\u5b89\u5fb7\u9c81\u7684\u811a\u548c\u5176\u4ed6\u808c\u8089\u7684\u611f\u89c9\uff0c\u4ed6\u7684\u5bb6\u4eba\u4f7f\u7528\u4e86\u4e00\u79cd\u88ab\u79f0\u4e3a\u70b9\u7a74\u7597\u6cd5\u7684\u521b\u65b0\u7597\u6cd5\u3002\u8fd9\u662f\u4e00\u79cd\u6ca1\u6709\u7ecf\u8fc7\u957f\u671f\u7684\u5ba2\u89c2\u8bc4\u4f30\u7684\u7279\u6b8a\u7269\u7406\u7597\u6cd5\uff0c\u4f46\u4f17\u6240\u5468\u77e5\uff0c\u5f3a\u5316\u5e94\u7528\u7684\u7269\u7406\u7597\u6cd5\u66f4\u6709\u53ef\u80fd\u4ea7\u751f\u77ed\u671f\u6548\u76ca\u3002\u7814\u7a76\u6cbb\u7597\u65b9\u6cd5\u7684\u5c1d\u8bd5\u62a5\u544a\uff0c\u53ef\u4eceUnique\u5904\u83b7\u5f97\u3002\u53e6\u4e00\u65b9\u9762\uff0cUnique\u5e76\u4e0d\u8ba4\u53ef\u4efb\u4f55\u7279\u5b9a\u7684\u521b\u65b0\u7597\u6cd5\uff0c\u800c\u662f\u9f13\u52b1\u5bb6\u5ead\u4ece\u7269\u7406\u6cbb\u7597\u5e08\u90a3\u91cc\u4e3a\u5176\u5b69\u5b50\u5bfb\u6c42\u4e2a\u6027\u5316\u7684\u6cbb\u7597\u3002\u5b89\u5fb7\u9c81\u5584\u4e8e\u4ea4\u9645\uff0c\u4e3a\u81ea\u5df1\u611f\u5230\u9a84\u50b2\uff0c\u6709\u81ea\u5c0a\u5fc3\u3002\u5982\u679c\u4eba\u4eec\u4fb5\u72af\u4e86\u4ed6\u7684\u4e2a\u4eba\u7a7a\u95f4\uff0c\u4ed6\u53ef\u4ee5\u5f3a\u70c8\u5730\u53cd\u9a73\u653b\u51fb\u7684\u89c2\u70b9\uff0c\u4f46\u4ed6\u7684\u5bb6\u4eba\u901a\u8fc7\u8868\u626c\u826f\u597d\u7684\u884c\u4e3a\u548c\u8ba9\u5176\u4ed6\u4eba\u7406\u89e3\u5b89\u5fb7\u9c81\u5bf9\u592a\u8fc7\u63a5\u8fd1\u611f\u5230\u4e0d\u8212\u670d\u6765\u7ba1\u7406\u8fd9\u4e2a\u95ee\u9898\u3002<br>\u5b89\u5fb7\u9c81\u7684\u7b2c\u4e00\u79cd\u8bed\u8a00\u662f\u624b\u8bed\uff0c\u52305\u5c81\u65f6\uff0c\u4ed6\u7684\u8bcd\u6c47\u91cf\u5df2\u8d85\u8fc7400\u4e2a\u3002\u5230\u4e8610\u5c81\uff0c\u4ed6\u7684\u7b7e\u540d\u5df2\u7ecf\u5b9a\u683c\u5728\u4ed6\u8fd8\u4e0d\u719f\u6089\u7684\u4eba\u8eab\u4e0a\u3002\u4ece9\u5c81\u8d77\uff0c\u4ed6\u5f00\u59cb\u8d8a\u6765\u8d8a\u591a\u5730\u53d1\u58f0\uff0c\u6709\u65f6\u4f7f\u7528\u66f4\u957f\u3001\u66f4\u590d\u6742\u7684\u53e5\u5b50\uff0c\u4f46\u4ed6\u7684\u8bed\u8a00\u4ecd\u4e0d\u6210\u719f\uff0c\u8bb8\u591a\u8f85\u97f3\u8fd8\u6ca1\u6709\u5b8c\u5168\u53d1\u80b2\u3002\u5b89\u5fb7\u9c81\u7684\u7406\u89e3\u529b\u8fdc\u8fdc\u5927\u4e8e\u4ed6\u7684\u8868\u8fbe\u80fd\u529b\uff0c\u4f46\u4ed6\u4f8b\u5982\uff0c\u300c\u6211\u73b0\u5728\u53ef\u4ee5\u79bb\u5f00\u684c\u5b50\u5417?\u300d\u4f1a\u6765\u8be2\u95ee\u3002\u5b89\u5fb7\u9c81\u662f\u4e00\u4e2a\u5145\u6ee1\u70ed\u60c5\u548c\u6210\u529f\u7684\u5b66\u4e60\u8005\u3002\u4ed6\u4f7f\u7528\u5e26\u6709IntelliKeys\u952e\u76d8\u7684\u7535\u8111\uff0c\u5b66\u4e60\u80fd\u529b\u5f88\u5f3a\uff0c\u5728\u4efb\u52a1\u51fa\u73b0\u6545\u969c\u65f6\u4f1a\u7ee7\u7eed\u5b66\u4e60\u4e5f\u4f1a\u53d7\u5230\u9f13\u52b1\u3002\u4ed6\u5bf9\u540d\u5b57\u548c\u9762\u5b54\u6709\u5f88\u597d\u7684\u8bb0\u5fc6\u3002\u53ea\u8981\u4ed6\u5904\u7406\u597d\u4ea4\u63a5\u6307\u5bfc\uff0c\u5b89\u5fb7\u9c81\u5c31\u80fd\u5199\u4f5c\u548c\u5b66\u4e60\u6570\u5b66\u3002\u4f46\u662f\u72ec\u81ea\u4e00\u4eba\uff0c\u4ed6\u4e0d\u80fd\u544a\u8bc9\u4f60\uff0c\u4e00\u4e2a\u548c\u4e00\u4e2a\u662f\u76f8\u7b49\u7684\u3002\u7136\u800c\uff0c\u8fd9\u79cd\u6307\u5bfc\u4f7f\u4ed6\u80fd\u591f\u8fdb\u884c12\u6b21\u7684\u8868\u548c\u52a0\u3001\u51cf\u3001\u4e58\u6cd5\u3002<br>\u4ed6\u7684\u8bc6\u5b57\u7387\u5f88\u9ad8\u3002\u57288\u5c81\u65f6\uff0c\u4ed6\u7684\u62fc\u5199\u5e74\u9f84\u6bd4\u4ed6\u7684\u5b9e\u9645\u5e74\u9f84\u8981\u9ad8\u5f97\u591a\u300210\u5c81\u65f6\uff0c\u4ed6\u80fd\u9605\u8bfb\u513f\u7ae5\u8bfb\u7269\u3001\u62a5\u7eb8\u5934\u6761\u3001\u7535\u89c6\u6307\u5357\u3001\u513f\u7ae5\u7948\u7977\u6587\u548c\u5723\u7ecf\u3002\u4ed6\u7684\u5bb6\u4eba\u8bf4\uff0c\u5f53\u4ed6\u72ec\u81ea\u9605\u8bfb\u65f6\u5f88\u96be\u8bc4\u4f30\uff0c\u4f46\u5230\u4e8611\u5c81\u65f6\uff0c\u5f53\u4ed6\u5728\u5e8a\u4e0a\u9605\u8bfb\u65f6\u5df2\u7ecf\u544a\u8bc9\u4ed6\u4eec\u8981\u79bb\u5f00\u3002<\/p>\n\n\n\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\" style=\"flex-basis:50%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"300\" height=\"496\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-g.jpg\" alt=\"\" class=\"wp-image-18309\"\/><figcaption class=\"wp-element-caption\">8\u5c81<\/figcaption><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-vertically-aligned-bottom is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"300\" height=\"590\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-h.jpg\" alt=\"\" class=\"wp-image-18311\"\/><figcaption class=\"wp-element-caption\">10\u5c81<\/figcaption><\/figure><\/div><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BB%8E_14q31_%E6%88%96_14q32_%E5%BC%80%E5%A7%8B%E7%9A%84%E9%95%BF%E8%87%82%E6%9C%AB%E7%AB%AF%E7%9A%84%E5%B0%91%E9%87%8F%E9%87%8D%E5%A4%8D\"><\/span><strong>\u4ece 14q31 \u6216 14q32 \u5f00\u59cb\u7684\u957f\u81c2\u672b\u7aef\u7684\u5c11\u91cf\u91cd\u590d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\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\" style=\"flex-basis:30%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"176\" height=\"547\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-i.png\" alt=\"\" class=\"wp-image-18313\"\/><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:70%\">\n<p>\u4f34\u968f\u7740\u4ece14q31\u5e26\u5f00\u59cb\u957f\u81c2\u672b\u7aef\u7684\u7eaf\u7cb9\u590d\u5236\uff0c\u67093\u4e2a\u6210\u4eba\uff0c\u5e74\u9f84\u6700\u5927\u768429\u5c81\uff0c\u4ee5\u53ca3\u4e2a\u513f\u7ae5\u7684\u533b\u5b66\u6587\u732e\u8bb0\u8f7d\u3002 \u5728Unique\u7684\u6210\u5458\u4e2d\uff0c\u67091\u4e2a\u513f\u7ae5\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14q32\u5f00\u59cb\u7684\u7eaf\u7cb9\u91cd\u590d<\/a>\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u4ed6\u7684\u67d3\u8272\u4f53\u7684\u7f3a\u5931\u6216\u91cd\u590d<\/a>(2\u30014\u30015\u30016\u30019\u300115\u300118\u548c22)\u540c\u6837\u6709\u5f88\u591a\u513f\u7ae5\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14q\u7684\u8fdc\u7aef\u91cd\u590d<\/a>(Palmer 2006; Sutton 2002; Mignon-Ravix 2001; Magnani 1993; Masada 1989; Carr 1986; Trunca 1977; Weinstein 1977; Unique)\u3002<br>\u533b\u5b66\u6587\u732e\u4e2d\u7684\u62a5\u544a\u8868\u660e\uff0c\u751f\u957f\u8fdf\u7f13\u5728\u51fa\u751f\u524d\u540e\u5f88\u5e38\u89c1\uff0c\u800c\u4e14\u53ef\u4ee5\u975e\u5e38\u660e\u663e\uff0c\u4e00\u4e2a24\u5c81\u7684\u75c5\u4f8b\u5e73\u5747\u8eab\u9ad8\u4e3a8\u5c81\u3002\u53d1\u80b2\u8fdf\u7f13\u7684\u60c5\u51b5\u5e76\u4e0d\u4e00\u81f4\uff0c\u4e09\u4e2a\u65b0\u751f\u513f\u7684\u51fa\u751f\u4f53\u91cd\u6b63\u5e38\uff0c\u4e00\u4e2a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14q32.1\u5f00\u59cb\u91cd\u590d<\/a>\u76845\u5c81\u65b0\u751f\u513f\u7684\u4f53\u91cd\u548c\u8eab\u9ad8\u4e5f\u6b63\u5e38\u3002<br>\u53d1\u80b2\u5ef6\u8fdf\u7684\u7a0b\u5ea6\u4e5f\u662f\u53ef\u4ee5\u9884\u671f\u7684\u3002\u636e\u89c2\u5bdf\uff0c\u5728\u8fbe\u5230\u7ffb\u8eab\u548c\u5750\u7684\u53d1\u5c55\u91cc\u7a0b\u7891\u65b9\u9762\u6709\u660e\u663e\u7684\u5ef6\u8fdf\uff0c\u81f3\u5c11\u6709\u4e24\u4e2a\u4eba\u7684\u5173\u8282\u4e25\u91cd\u6536\u7f29\uff1b\u4e00\u4e2a\u6210\u5e74\u4eba\u65e0\u6cd5\u884c\u8d70\u3002\u5173\u4e8e\u5b66\u4e60\u80fd\u529b\u7684\u4fe1\u606f\u5f88\u5c11\uff0c\u4f46\u6709\u4e00\u4e2a\u5b69\u5b50\u5728\u4e09\u5c81\u65f6\u5c31\u80fd\u8bf4\u4e00\u4e9b\u8bdd\uff0c\u4e00\u4e2a\u6210\u5e74\u4eba\u7684\u529f\u80fd\u76f8\u5f53\u4e8e11\u5c81\u513f\u7ae5\u7684\u6c34\u5e73\uff0c\u800c\u53e6\u4e00\u4e2a\u6210\u5e74\u4eba\u5219\u4e0d\u80fd\u8bf4\u8bdd\u3002<\/p>\n<\/div>\n<\/div>\n\n\n\n<p>\u5927\u591a\u6570\u60a3\u8005\u603b\u4f53\u4e0a\u662f\u5065\u5eb7\u7684\uff0c\u4f46\u6709\u4e00\u4e2a\u5b69\u5b50\u60a3\u6709\u8111\u7578\u5f62\uff0c\u5e76\u4f34\u6709\u5fc3\u810f\u548c\u5927\u8840\u7ba1\u7684\u590d\u6742\u7578\u5f62\uff0c\u795e\u7ecf\u7ba1\u7f3a\u9677\u66b4\u9732\u4e86\u810a\u9ad3(\u8170\u4ed9\u9aa8\u9ad3\u9ad3\u819c\u7624)\uff0c\u4ee5\u53ca\u8fde\u63a5\u5927\u8111\u7684\u4e24\u4e2a\u534a\u7403\u7684\u795e\u7ecf\u7ea4\u7ef4\u7684\u5f88\u5927\u8303\u56f4\u7684\u8111\u6881\u6709\u4e00\u90e8\u5206\u7f3a\u635f\u3002 \u60a3\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14q32.1\u7684\u5d4c\u5408\u91cd\u590d<\/a>\u768419\u5c81\u5973\u6027\uff0c\u5373\u5979\u4f53\u5185\u6709\u91cd\u590d\u7684\u7ec6\u80de\uff0c\u800c\u5176\u4ed6\u65b9\u9762\u7684\u67d3\u8272\u4f53\u7ed3\u6784\u6b63\u5e38\uff0c\u5979\u7ecf\u5e38\u6709\u547c\u5438\u9053\u611f\u67d3\u548c\u766b\u75eb\u75c5\u53d1\u4f5c\u3002<br>\u4e00\u822c\u6765\u8bf4\uff0cUnique\u7684\u7ecf\u9a8c\u662f\uff0c\u6210\u5458\u7684\u60c5\u51b5\u6bd4\u533b\u5b66\u6587\u732e\u4e2d\u7684\u63cf\u8ff0\u8981\u597d\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%B4%9D%E5%9F%BA\"><\/span><strong>\u8d1d\u57fa<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\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\" style=\"flex-basis:30%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"300\" height=\"373\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-j.jpg\" alt=\"\" class=\"wp-image-18315\"\/><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:70%\">\n<p>\u8d1d\u57fa\u572815\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u7684\u5c16\u7aef\u4e0a\u5931\u53bb\u4e8615q26.3\u7684\u5207\u65ad\u70b9\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14\u53f7\u67d3\u8272\u4f53\u7684\u672b\u7aef\u670914q31.3\u5f00\u59cb\u7684\u91cd\u590d<\/a>\u3002\u5979\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u4e3b\u8981\u5f71\u54cd\u662f\u5bf9\u5979\u7684\u53d1\u80b2\uff0c\u5979\u4e5f\u6709\u5065\u5eb7\u95ee\u9898\u3002\u523016\u5c81\u65f6\uff0c\u8d1d\u57fa\u5df2\u7ecf\u6210\u4e3a\u4e00\u4e2a\u6027\u60c5\u5f00\u6717\u3001\u5916\u8868\u5feb\u4e50\u7684\u5e74\u8f7b\u5973\u58eb\uff0c\u4f46\u6709\u975e\u5e38\u660e\u663e\u7684\u53d1\u80b2\u95ee\u9898\u3002<br>\u8d1d\u57fa\u63d0\u524d\u4e00\u4e2a\u6708\u51fa\u751f\uff0c\u4f53\u91cd\u4e3a2.69kg(5\u78c515\u76ce\u53f8)\uff0c\u51fa\u751f\u65f6\u6709\u547c\u5438\u4f46\u6ca1\u6709\u54ed\u3002 \u6cc9\u95e8(\u8f6f\u6591)\u975e\u5e38\u5927\uff0c\u533b\u751f\u4eec\u5f88\u5173\u5fc3\u8fd9\u4e00\u60c5\u51b5\u3002\u5979\u7684\u5fc3\u810f\u6709\u4e00\u4e2a\u5c0f\u6d1e\uff0c\u6700\u7ec8\u81ea\u52a8\u6108\u5408\uff0c\u4f46\u5176\u4ed6\u65b9\u9762\u90fd\u5f88\u5065\u5eb7\u3002<br>\u8d1d\u57fa\u540e\u6765\u51fa\u73b0\u4e86\u4e00\u4e9b\u5065\u5eb7\u95ee\u9898\uff0c\u5305\u62ec3~11\u5c81\u65f6\u7684\u766b\u75eb\u53d1\u4f5c\u548c\u5e7c\u513f\u65f6\u671f\u7684\u9891\u7e41\u8033\u90e8\u611f\u67d3\uff0c\u4f46\u523016\u5c81\u65f6\uff0c\u5979\u603b\u4f53\u4e0a\u662f\u5065\u5eb7\u7684\uff0c\u9752\u6625\u671f\u8fdb\u5c55\u6b63\u5e38\u3002<\/p>\n<\/div>\n<\/div>\n\n\n\n<p>\u4f5c\u4e3a\u4e00\u4e2a\u5a74\u513f\u548c\u513f\u7ae5\uff0c\u5403\u996d\u662f\u4e00\u4e2a\u6301\u7eed\u7684\u6311\u6218\uff0c\u4f46\u5979\u53d6\u5f97\u4e86\u7a33\u6b65\u7684\u8fdb\u5c55\u3002\u7531\u4e8e\u65e0\u6cd5\u8fdb\u884c\u6bcd\u4e73\u5582\u517b\uff0c\u5979\u88ab\u7528\u9f3b\u80c3\u7ba1\u5582\u517b\u4e86\u56db\u4e2a\u6708\uff0c\u7136\u540e\u8fdb\u884c\u4eba\u5de5\u5582\u517b\u3002\u5728\u5979\u4e24\u5c81\u7684\u65f6\u5019\uff0c\u5df2\u7ecf\u80fd\u591f\u996e\u7528\u6df7\u5408\u540e\u7684\u98df\u7269\uff0c\u5e76\u80fd\u5403\u4e0b\u4e09\u7247\u5c0f\u86cb\u7cd5\u3002\u7136\u540e\uff0c\u5979\u5df2\u7ecf\u80fd\u628a\u4e00\u4e2a\u88c5\u597d\u98df\u7269\u7684\u52fa\u5b50\u542b\u5728\u5634\u91cc\u3002\u5230\u4e865\u5c81\uff0c\u5979\u53ef\u4ee5\u7528\u52fa\u5b50\u5403\u996d\uff0c\u7528\u5582\u98df\u676f\u559d\u6c34\u3002\u5230\u4e86\u5341\u5c81\uff0c\u5982\u679c\u628a\u98df\u7269\u5207\u6210\u4e00\u53e3\u5927\u5c0f\uff0c\u5979\u5c31\u53ef\u4ee5\u81ea\u5df1\u5403\u4e86\u3002\u5979\u7684\u80c3\u53e3\u5f88\u597d\uff0c\u5c3d\u7ba1\u5979\u6709\u65f6\u4f1a\u628a\u5634\u586b\u6ee1\uff0c\u5e76\u51fa\u73b0\u7a92\u606f\uff0c\u5979\u7684\u8eab\u9ad8\u548c\u4f53\u91cd\u5728\u4e0d\u65ad\u589e\u957f\uff0c\u800c\u4e14\u589e\u957f\u7684\u5e45\u5ea6\u4e5f\u5f88\u5408\u7406\u3002 \u7136\u800c\uff0c\u8d1d\u57fa\u572816\u5c81\u65f6\u8eab\u6750\u77ee\u5c0f\uff0c\u8eab\u9ad8\u4e3a144cm(4&#8217;9)\u3002 \u8d1d\u57fa\u7684\u6d3b\u52a8\u80fd\u529b\u5927\u5927\u5ef6\u8fdf\uff0c\u8bb8\u591a\u5173\u8282\u5728\u5a74\u513f\u671f\u5c31\u5f88\u677e\u5f1b\uff0c\u5728\u67d0\u4e9b\u60c5\u51b5\u4e0b\u7531\u4e8e\u57fa\u7840\u808c\u8089\u5f20\u529b\u4f4e\u800c\u4e0d\u7a33\u5b9a\uff0c\u800c\u968f\u7740\u65f6\u95f4\u7684\u63a8\u79fb\uff0c\u8fc7\u5ea6\u52b3\u7d2f\u548c\u808c\u8089\u631b\u7f29\u6210\u4e3a\u4e00\u4e2a\u8d8a\u6765\u8d8a\u5927\u7684\u95ee\u9898\u3002<br>\u5979\u5728\u4e24\u5c81\u65f6\u5c31\u80fd\u8db4\u7740\u8d70\uff0c\u4e94\u5c81\u65f6\u5c31\u80fd\u8d70\u8def\uff0c\u5728\u63a5\u4e0b\u6765\u7684\u51e0\u5e74\u91cc\u5e73\u8861\u80fd\u529b\u9010\u6e10\u63d0\u9ad8\u3002\u5979\u9700\u8981\u5b9a\u671f\u8fdb\u884c\u7269\u7406\u6cbb\u7597\uff0c\u7528\u88ab\u52a8\u62c9\u4f38\u3001\u5185\u6536\u808c\u56fa\u5b9a\u548c\u62a4\u5177\u6765\u5bf9\u6297\u5173\u8282\u631b\u7f29\uff0c\u5230\u4e86\u5341\u5e74\u540e\uff0c\u5979\u5df2\u7ecf\u662f\u4e00\u540d\u81ea\u4fe1\u7684\u6e38\u6cf3\u8fd0\u52a8\u5458\uff0c\u548c\u4e00\u540d\u4e0d\u7a33\u5b9a\u7684\u8dd1\u6b65\u8005\u3002<br>\u8d1d\u57fa\u51fa\u8272\u7684\u8fd0\u52a8\u6280\u80fd\u4e5f\u88ab\u63a8\u8fdf\u4e86\uff0c\u4f46\u5230\u4e86\u4e94\u5c81\u65f6\uff0c\u5979\u53ef\u4ee5\u6307\u70b9\u548c\u64cd\u4f5c\u7269\u4f53\uff0c\u4e0e\u516b\u4e2a\u4eba\u4e00\u8d77\u753b\u76f4\u7ebf\uff0c\u4e0e\u5341\u4e2a\u4eba\u4e00\u8d77\u8131\u5916\u5957\uff0c\u628a\u5916\u5957\u6302\u5728\u6728\u6869\u4e0a\uff0c\u5e76\u5c1d\u8bd5\u4f7f\u7528\u5927\u578b\u5200\u5177\u3002<br>\u8d1d\u57fa\u5584\u4e8e\u4ea4\u9645\uff0c\u5f88\u53d7\u6b22\u8fce\uff0c\u867d\u7136\u5979\u7684\u8c08\u8bdd\u975e\u5e38\u6709\u9650\uff0c\u4f46\u5979\u80fd\u591f\u901a\u8fc7\u76f4\u63a5\u7ecf\u9a8c\u3001\u4e00\u4e9b\u624b\u52bf\u3001\u624b\u52bf\u548c\u4ea4\u6d41\u8f85\u52a9\u5de5\u5177\u8fdb\u884c\u826f\u597d\u7684\u6c9f\u901a\u3002\u5979\u7684\u7406\u89e3\u80fd\u529b\u6bd4\u5979\u7684\u8868\u8fbe\u80fd\u529b\u66f4\u5f3a\u3002\u8d1d\u57fa\u7684\u6c9f\u901a\u6c34\u5e73\u53cd\u6620\u4e86\u5979\u7684\u5b66\u4e60\u80fd\u529b\u3002\u5979\u7684\u6ce8\u610f\u529b\u95ee\u9898\u5728\u5c0f\u5b66\u9636\u6bb5\u6709\u6240\u6539\u5584\uff0c\u4f46\u4ecd\u7136\u5f88\u660e\u663e\u3002\u5728\u5341\u51e0\u5c81\u7684\u65f6\u5019\uff0c\u5979\u5c31\u80fd\u4f7f\u7528\u57fa\u672c\u7684\u952e\u76d8\u3002\u8d1d\u57fa\u4e0e\u884c\u4e3a\u6cbb\u7597\u5e08\u4e00\u8d77\u5de5\u4f5c\uff0c\u4ee5\u89e3\u51b3\u5979\u7684\u6311\u6218\u6027\u884c\u4e3a\uff0c\u5e76\u5728\u719f\u6089\u7684\u4eba\u548c\u4e00\u81f4\u7684\u754c\u9650\u4e0b\u5e94\u4ed8\u81ea\u5982\u3002<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u5979\u6709\u6700\u7f8e\u597d\u7684\u7b11\u5bb9\u548c\u53cb\u597d\u3001\u5584\u4e8e\u4ea4\u9645\u7684\u4e2a\u6027\uff0c\u5c3d\u7ba1\u975e\u5e38\u75b2\u60eb\uff0c\u559c\u6b22\u5230\u5904\u8d70\u52a8\u3002<\/p>\n<\/blockquote>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%88%B4%E7%BB%B4%E6%96%AF\"><\/span><strong>\u6234\u7ef4\u65af<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\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\" style=\"flex-basis:30%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"300\" height=\"373\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-k.jpg\" alt=\"\" class=\"wp-image-18317\"\/><figcaption class=\"wp-element-caption\">11\u6b73<\/figcaption><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:70%\">\n<p>\u6234\u7ef4\u65af\u6709\u4e00\u4e2a\u6765\u81ea<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">18\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u672b\u7aef\u7684\u7f3a\u5931<\/a>\uff0c18q23\u5904\u6709\u5207\u65ad\u70b9\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u7684\u672b\u7aef14q31.3\u5904\u6709\u5207\u65ad\u70b9\u91cd\u590d<\/a>\u3002\u4ed6\u663e\u8457\u7684\u9762\u90e8\u7279\u5f81\uff0c\u5305\u62ec\u7a00\u758f\u7684\u7709\u6bdb\u3001\u4f4e\u77ee\u7684\u8033\u6735\u3001\u5206\u5f00\u7684\u773c\u775b\u548c\u5927\u5927\u7684\u5fae\u7b11\uff0c\u662f\u5728\u51fa\u751f\u540e\u516d\u5468\u53d1\u73b0\u7684\u3002\u6234\u7ef4\u65af\u5728\u521a\u51fa\u751f\u65f6\u6709\u76f8\u5f53\u5927\u7684\u56f0\u96be\u3002\u4ed6\u5728\u8425\u517b\u65b9\u9762\u6709\u56f0\u96be\uff0c5\u5468\u65f6\u653e\u7f6e\u4e86\u80c3\u7ba1\uff0c6\u5468\u65f6\u505a\u4e86\u6c14\u7ba1\u5207\u5f00\u672f(\u5728\u4ed63\u5c81\u65f6\u62c6\u9664)\u547c\u5438\u56f0\u96be\uff0c\u8fd8\u6709\u6162\u6027RSV(RS\u75c5\u6bd2\uff0c\u5f15\u8d77\u547c\u5438\u9053\u611f\u67d3)\u3002\u4e00\u5468\u540e\uff0c\u6234\u7ef4\u65af\u63a5\u53d7\u4e86\u5934\u90e8\u548c\u5927\u8111\u7684MRI\u548cCT\u626b\u63cf\uff0c\u8fde\u63a5\u5927\u8111\u4e24\u4e2a\u534a\u7403\u7684\u795e\u7ecf\u7ea4\u7ef4\u675f\u7684\u8111\u6881\u5b8c\u5168\u6ca1\u6709\u5f62\u6210\u3002\u867d\u7136\u6234\u7ef4\u65af\u7684\u51fa\u751f\u4f53\u91cd\u5bf9\u65e9\u4ea7\u513f\u6765\u8bf4\u5f88\u597d\uff0c\u4f46\u4ed6\u7684\u751f\u957f\u66f2\u7ebf\u4e0b\u6ed1\u4e86\uff0c\u73b0\u5728\u662f12\u5c81\u4f46\u53ea\u67094\u5c81\u7684\u5927\u5c0f\u3002\u4ece3\u5c81\u523010\u5c81\uff0c\u6234\u7ef4\u65af\u6ce8\u5c04\u4e86\u751f\u957f\u6fc0\u7d20\uff0c\u4f46\u8fd9\u4e9b\u90fd\u662f\u65e0\u6548\u7684\uff0c\u5e76\u88ab\u505c\u6b62\u4e86\u3002\u6234\u7ef4\u65af\u7684\u6162\u6027RSV\u5bfc\u81f4\u4ed6\u4ece\u51fa\u751f\u52307\u5c81\u591a\u6b21\u5165\u9662\u6cbb\u7597\u3002\u5e73\u5747\u800c\u8a00\uff0c\u60a3\u8005\u6bcf\u5e74\u82b1\u5927\u7ea62\u4e2a\u534a\u6708\u65f6\u95f4\u4eceRSV\u548c\u5e76\u53d1\u75c7\u4e2d\u6062\u590d\u3002<\/p>\n<\/div>\n<\/div>\n\n\n\n<p>12\u5c81\u65f6\uff0c\u6234\u7ef4\u65af\uff0c\u73b0\u5728\u5165\u9662\u5df2\u7ecf4\u5c81\u534a\u4e86\uff0cRSV\u6ca1\u6709\u4f4f\u9662\uff0c\u800c\u4e14\u4f3c\u4e4e\u5df2\u7ecf\u6446\u8131\u4e86\u3002\u53bb\u5e74\uff0c\u4ed6\u56e0\u5168\u52e4\u800c\u83b7\u5f97\u4e86\u4e00\u4e2a\u5956\u9879\u3002\u6234\u7ef4\u65af\u975e\u5e38\u8fd1\u89c6\uff0c\u800c\u4e14\u6709\u8f7b\u5fae\u7684\u542c\u529b\u635f\u5931\uff0c\u4f46\u4e0d\u9700\u8981\u4f69\u6234\u52a9\u542c\u5668\u3002\u4ed6\u7684\u8033\u9053\u975e\u5e38\u72ed\u7a84\uff0c\u5728\u56db\u5c81\u7684\u65f6\u5019\uff0c\u4ed6\u7684\u53f3\u8033\u505a\u4e86\u624b\u672f\u6765\u7ea0\u6b63\u8fd9\u4e2a\u95ee\u9898\u3002\u6234\u7ef4\u65af\u6709\u5168\u9762\u7684\u53d1\u80b2\u8fdf\u7f13\uff0c\u4f46\u4e0d\u88ab\u5f52\u7c7b\u4e3a\u7cbe\u795e\u53d1\u80b2\u8fdf\u7f13\u6216\u667a\u529b\u969c\u788d\u3002\u4ed6\u7684\u533b\u7597\u56e2\u961f\u7684\u5171\u8bc6\u662f\uff0c\u6234\u7ef4\u65af\u6709\u8ba4\u77e5\u80fd\u529b\uff0c\u4f46\u4ed6\u4eec\u4e0d\u77e5\u9053\u4ed6\u662f\u5982\u4f55\u77e5\u9053\u4ed6\u6240\u77e5\u9053\u7684\u3002\u6234\u7ef4\u65af\u76f4\u52306\u5c81\u65f6\u624d\u5f00\u59cb\u8d70\u8def\uff0c12\u5c81\u65f6\u4ecd\u5728\u4f7f\u7528\u52a9\u884c\u5668\u548c\u8f6e\u6905\u3002\u4ed6\u53ef\u4ee5\u5750\u5728\u6905\u5b50\u4e0a\uff0c\u4f7f\u7528\u697c\u68af(\u5728\u5e2e\u52a9\u4e0b)\uff0c\u751a\u81f3\u7528\u52a9\u884c\u5668\u8dd1\u6b65\u3002\u6234\u7ef4\u65af\u662f\u4e00\u4e2a\u975e\u5e38\u5584\u4e8e\u793e\u4ea4\u548c\u5feb\u4e50\u7684\u5b69\u5b50\uff0c\u5c24\u5176\u662f\u5728\u8bfe\u5802\u4e2d\u95f4\uff0c\u559c\u6b22\u548c\u4ed6\u7684\u300c\u666e\u904d\u53d1\u5c55\u7684\u540c\u9f84\u4eba\u300d\u4e00\u8d77\u73a9\u3002\u6234\u7ef4\u65af\u7684\u8bed\u8a00\u80fd\u529b\u6709\u9650\uff0c\u4f46\u636e\u4fe1\u4ed6\u80fd\u542c\u61c290%\u7684\u8bdd\u8bed\u3002 \u4ed6\u80fd\u5728\u7535\u8111\u4e0a\u8bf4\u51fa\u5b8c\u6574\u7684\u53e5\u5b50\uff0c\u8fd9\u662f\u4ed6\u81ea\u4e24\u5c81\u534a\u4ee5\u6765\u6240\u4f7f\u7528\u7684\u6700\u597d\u7684\u6559\u80b2\u5de5\u5177\u3002\u5728\u4ed6\u7684\u8f85\u52a9\u6280\u672f\u8bbe\u5907Springboard\u7684\u5e2e\u52a9\u4e0b\uff0c\u4ed6\u4e0e\u540c\u4e8b\u7684\u4ea4\u6d41\u589e\u52a0\u4e86\u3002\u6234\u7ef4\u65af\u76ee\u524d\u6b63\u5904\u4e8e\u7b2c\u56db\u4e2a\u5e74\u5934(\u5728\u666e\u901a\u6559\u80b2\u8bfe\u5802\u4e0a\u63a5\u53d7\u6559\u80b2)\u3002\u8bfb\u4e09\u5e74\u7ea7\u7684\u6234\u7ef4\u65af\u548c\u4ed6\u7684\u540c\u5b66\u4eec\u4e00\u8d77\u957f\u5927\uff0c\u4ece\u5e7c\u513f\u56ed\u5f00\u59cb\u5c31\u5728\u4e00\u8d77\u3002\u6234\u7ef4\u65af\u53d7\u76ca\u4e8e\u4e00\u5bf9\u4e00\u7684\u6559\u5b66\u52a9\u7406\u3002 \u52a9\u7406\u5e2e\u52a9\u4fc3\u8fdb\u4ed6\u5728\u5e38\u89c4\u6559\u80b2\u8bfe\u5802\u4e0a\u7684\u6559\u80b2\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B8%83\"><\/span><strong>\u5e03<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\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\" style=\"flex-basis:30%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"200\" height=\"540\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-l.jpg\" alt=\"\" class=\"wp-image-18319\"\/><figcaption class=\"wp-element-caption\">13\u5c81<\/figcaption><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:70%\">\n<p>\u5c0f\u5e03\u6709\u4e00\u6761\u7b2c9\u67d3\u8272\u4f53\u7684\u77ed\u81c2\u3001\u957f\u81c2\u7684\u788e\u7247\uff0c14q32.1\u5f00\u59cb\u7b2c14\u67d3\u8272\u4f53\u7684\u672b\u7aef\u6709\u5225\u7684\u67d3\u8272\u4f53\u3002\u60a3\u8005\u662f\u5728\u65e0\u95ee\u9898\u7684\u6000\u5b55\u540e\u51fa\u751f\u7684\uff0c\u4f53\u91cd\u826f\u597d\uff0c\u72b6\u51b5\u826f\u597d\u3002\u4ed6\u7528\u6bcd\u4e73\u5582\u517b\u4e86\u516d\u4e2a\u661f\u671f\uff0c\u9664\u4e86\u7259\u9f88\u5f00\u88c2\u5916\u6ca1\u6709\u4efb\u4f55\u95ee\u9898\u3002\u5c0f\u5e03\u957f\u5f97\u5f88\u597d\uff0c\u523013\u5c81\u65f6\u5df2\u8fbe\u5230\u540c\u9f84\u4eba\u7684\u5e73\u5747\u8eab\u9ad8\u3002\u901a\u8fc7\u624b\u672f\u6cbb\u6108\u7684\u8110\u759d(\u8986\u76d6\u8179\u90e8\u5185\u90e8\uff0c\u6709\u65f6\u90e8\u5206\u8179\u90e8\u4f1a\u5728\u809a\u8110\u5468\u56f4\u9686\u8d77)\u3001\u8179\u80a1\u6c9f\u7684\u759d\u6c14\uff0c\u4ee5\u53ca\u7528\u63d2\u7ba1\u6cbb\u7597\u80ba\u708e\u548c\u5a74\u513f\u65f6\u671f\u7684\u54ee\u5598\u7b49\uff0c\u5c0f\u5e03\u7684\u6210\u957f\u8d85\u8d8a\u4e86\u4ed6\u7684\u4efb\u4f55\u5065\u5eb7\u95ee\u9898\u3002\u5c0f\u5e03\u8fd8\u60a3\u6709\u8fd1\u89c6\u548c\u901a\u8fc7\u6fc0\u5149\u624b\u672f\u5f97\u5230\u4e86\u77eb\u6b63\u7684convergent squid(\u770b\u773c\u775b\u5185\u4fa7)\u3002\u4ed6\u5728\u5a74\u513f\u65f6\u671f\u60a3\u4e0a\u4e86\u8111\u79ef\u6c34(\u8111\u5185\u6db2\u4f53\u8fc7\u591a)\uff0c\u5e76\u63a5\u53d7\u4e86\u5206\u6d41\u6cbb\u7597\u3002\u5c31\u5916\u89c2\u800c\u8a00\uff0c\u5e03\u6709\u51e0\u4e2a\u4e0d\u5bfb\u5e38\u7684\u7279\u5f81\u3002\u8fd9\u4e9b\u95ee\u9898\u5305\u62ec\u4ed6\u7684\u4e00\u4e9b\u6307\u5c16\u91cd\u53e0\uff0c\u8033\u6735\u4e0d\u6b63\u5e38\uff0c\u5934\u7684\u80cc\u9762\u5f88\u5e73\u3002\u5728\u5a74\u513f\u65f6\u671f\uff0c\u4ed6\u7684\u5934\u4e0a\u6709\u4e00\u4e2a\u5f88\u5927\u7684\u8f6f\u6591(\u6cc9\u95e8)\u3002<\/p>\n\n\n\n<p>\u5e03\u7684\u53d1\u5c55\u5f97\u5230\u4e86\u8bed\u8a00\u3001\u804c\u4e1a\u3001\u7269\u7406\u6cbb\u7597\u548c\u7279\u6b8a\u6559\u80b2\u7684\u652f\u6301\u3002\u4ed6\u7684\u808c\u8089\u5f20\u529b\u4f4e\uff0c\u884c\u52a8\u80fd\u529b\u6709\u4e9b\u8fdf\u7f13\u30029\u4e2a\u6708\u65f6\u80fd\u5750\uff0c3\u5c81\u65f6\u80fd\u8d70\u697c\u68af\uff0c7\u5c81\u65f6\u80fd\u8dd1\u3002\u523013\u5c81\u65f6\uff0c\u4ed6\u53ef\u4ee5\u63e1\u5200\u548c\u63e1\u4f4f\u94c5\u7b14\uff0c\u4f46\u53ef\u4ee5\u5199\u51fa\u81ea\u5df1\u7684\u540d\u5b57\u548c\u5b57\u6bcd\uff0c\u4f46\u4e0d\u80fd\u65bd\u52a0\u8db3\u591f\u7684\u538b\u529b\u3002<\/p>\n<\/div>\n<\/div>\n\n\n\n<p>\u5728\u5b66\u6821\uff0c\u4ed6\u975e\u5e38\u559c\u6b22\u4f7f\u7528\u952e\u76d8\u3002\u4ed6\u6709\u5f88\u597d\u7684\u8bb0\u5fc6\u529b\uff0c\u7279\u522b\u662f\u5bf9\u65b9\u5411\u6027\u548c\u8bf4\u5531\u97f3\u4e50\uff0c\u5e76\u559c\u6b22\u7528\u53cc\u624b\u51fb\u9f13\u3002\u4ed6\u7684\u8a00\u8bed\u8fdb\u5c55\u826f\u597d\uff0c\u4f46\u5728\u8bcd\u5e8f\u548c\u5f20\u529b\u65b9\u9762\u4ecd\u6709\u56f0\u96be\uff0c\u7528\u6d41\u4f53\u88c5\u7f6e(SpeechEasy)\u6539\u5584\u4e86\u4ed6\u53e3\u5403\u7684\u95ee\u9898\u3002<br>13\u5c81\u65f6\uff0c\u5e03\u6b63\u7ecf\u5386\u7740\u9752\u6625\u671f\u3002\u5728\u4ed6\u7684\u5bb6\u91cc\uff0c\u5c0f\u5e03\u611f\u60c5\u4e30\u5bcc\uff0c\u559c\u6b22\u5927\u4eba\u7684\u5173\u6ce8\u3002\u4ed6\u6709\u65f6\u5bf9\u964c\u751f\u4eba\u8fc7\u4e8e\u4ec1\u6148\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%9F%83%E7%B1%B3%E5%B0%94\"><\/span><strong>\u57c3\u7c73\u5c14<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u57c3\u7c73\u5c14\u60a3\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5931\u53bb\u4ece22q13.31\u523022\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u7684\u672b\u7aef(Phelan-McDermid\u7efc\u5408\u75c7)<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14\u53f7\u67d3\u8272\u4f53\u672b\u7aef\u523014q32.1\u6709\u91cd\u590d<\/a>\u3002 \u4e3b\u8981\u95ee\u9898\u662f\u996e\u98df\u3001\u7761\u7720\u3001\u7126\u8651\u3001\u4e0a\u5395\u6240\u548c\u6c9f\u901a\u3002<br>\u9664\u4e86\u5e38\u89c1\u7684\u513f\u7ae5\u75be\u75c5\u5916\uff0c\u5979\u57287\u5c81\u4e4b\u524d\u4e00\u822c\u90fd\u5f88\u5065\u5eb7\uff0c\u6d4b\u8bd5\u663e\u793a\u5979\u7684\u80ba\u3001\u80be\u548c\u5927\u8111\u90fd\u5f88\u5065\u5eb7\u3002\u5979\u7684\u51fa\u751f\u4f53\u91cd\u5f88\u597d\uff0c\u5c3d\u7ba1\u65e9\u671f\u6709\u6293\u63e1\u95ee\u9898\uff0c\u4f46\u5979\u572815\u4e2a\u6708\u65f6\u7528\u4e73\u5934\u62a4\u7f69\u8fdb\u884c\u4e86\u6bcd\u4e73\u5582\u517b\u3002\u5979\u5728\u5403\u56fa\u4f53\u98df\u7269\u65b9\u9762\u6709\u95ee\u9898\uff0c\u800c\u4e14\u751f\u75c5\u65f6\u5f80\u5f80\u4f1a\u5438\u5165\u98df\u7269\u5e76\u53d1\u751f\u547c\u5438\u9053\u611f\u67d3\u3002\u5728\u516d\u5c81\u4e4b\u524d\uff0c\u57c3\u7c73\u5c14\u7684\u98df\u7269\u662f\u7eaf\u7684\uff0c\u5979\u670d\u7528\u70ed\u91cf\u548c\u8425\u517b\u8865\u5145\u5242\u4ee5\u5e2e\u52a9\u5979\u589e\u52a0\u4f53\u91cd\u3002\u57287\u5c81\u65f6\uff0c\u5979\u4ecd\u7136\u6709\u5480\u56bc\u56f0\u96be\u3002<\/p>\n\n\n\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\" style=\"flex-basis:50%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"200\" height=\"232\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-m.jpg\" alt=\"\" class=\"wp-image-18321\"\/><figcaption class=\"wp-element-caption\">\u65b0\u751f\u513f<\/figcaption><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"200\" height=\"290\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-n.jpg\" alt=\"\" class=\"wp-image-18323\"\/><figcaption class=\"wp-element-caption\">4\u5c81<\/figcaption><\/figure><\/div><\/div>\n<\/div>\n\n\n\n<p>\u57c3\u7c73\u5c14\u7684\u808c\u8089\u5f20\u529b\u5f88\u4f4e\uff0c\u4f46\u5728\u7269\u7406\u6cbb\u7597\u7684\u5e2e\u52a9\u4e0b\uff0c\u5979\u5728\u52a9\u884c\u5668\u7684\u5e2e\u52a9\u4e0b\u8d70\u4e86\u4e09\u5e74\uff0c\u5e76\u722c\u4e86\u4e94\u5c42\u697c\u68af\u3002\u5979\u5df2\u7ecf\u63a5\u53d7\u4e86\u8bed\u8a00\u6cbb\u7597\u7684\u8f93\u5165\uff0c\u5e76\u4f7f\u7528\u5404\u79cd\u4ea4\u6d41\u65b9\u6cd5\uff0c\u5305\u62ec\u624b\u52bf\u3001\u7b26\u53f7\u3001\u624b\u52bf\u3001\u56fe\u7247\u3001\u8eab\u4f53\u8bed\u8a00\u3001\u9762\u90e8\u8868\u60c5\u3001\u6307\u70b9\u3001\u4ea4\u6d41\u4e66\u7c4d\u3001\u53c2\u8003\u8d44\u6599\u548c\u53e3\u8bed\u3002\u5230\u76ee\u524d\u4e3a\u6b62\uff0c\u5199\u7684\u6700\u957f\u7684\u4e00\u53e5\u8bdd\u662f\u300c\u5988\u5988\uff0c\u5e2e\u5e2e\u6211\u300d\u3002\u5728\u5b66\u6821\uff0c7\u5c81\u7684\u57c3\u7c73\u5c14\u5f00\u59cb\u770b\u56fe\u7247\u3001\u753b\u7ebf\u6761\u548c\u4f7f\u7528\u53ef\u5199\u7684\u89e6\u6478\u5c4f\u3002\u53ea\u8981\u5979\u7ecf\u5e38\u91cd\u590d\u4e0a\u8bfe\uff0c\u5979\u7684\u8bb0\u5fc6\u529b\u5c31\u4f1a\u5f88\u597d\u3002\u827e\u6885\u5c14\u5df2\u63a5\u53d7\u8fc7\u5982\u5395\u8bad\u7ec3\uff0c\u4f46\u60a3\u6709\u8180\u80f1\u5c3f\u6025\/\u5c3f\u9891\u7684\u56f0\u6270\u3002\u5979\u7761\u5f97\u4e0d\u597d\uff0c\u800c\u4e14\u60a3\u6709\u7126\u8651\u75c7\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B5%B7%E8%8E%89\"><\/span><strong>\u6d77\u8389<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6d77\u8389\u5931\u53bb\u4e86\u6765\u81ea<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">5p15.31\u76845\u53f7\u67d3\u8272\u4f53\u7684\u77ed\u81c2\u672b\u7aef<\/a>\uff0c\u548c\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14q32.11\u768414\u53f7\u67d3\u8272\u4f53\u7684\u672b\u7aef\u91cd\u590d<\/a>\u3002\u5979\u7684\u6838\u578b\u4e0e\u57c3\u7c73\u5c14\u76f8\u540c(\u53c2\u716713-4\u9875)\uff0c\u4f46\u5f71\u54cd\u4e0d\u540c\u3002\u7f3a\u59315p\u7684\u5178\u578b\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u4f5c\u4e3aCri du Chat\u88ab\u5e7f\u6cdb\u719f\u77e5\u7684\u9057\u4f20\u7efc\u5408\u75c7<\/a>(\u56e0\u60a3\u6b64\u75c5\u7684\u5a74\u513f\u53d1\u51fa\u7c7b\u4f3c\u732b\u7684\u53eb\u58f0\u800c\u5f97\u540d)\uff0c\u4f46\u57285p\u67d3\u8272\u4f53\u9876\u7aef\u7f3a\u5931\u7684\u60c5\u51b5\u4e0b\uff0c\u53ef\u80fd\u4e0d\u4f1a\u5bfc\u81f4\u8fd9\u79cd\u7efc\u5408\u6b63\u7684\u5178\u578b\u7279\u5f81\u3002\u6d77\u8389\u51fa\u73b0\u4e86\u4e0b\u773c\u7751\u53d1\u80b2\u4e0d\u5168\uff0c\u5979\u65e0\u6cd5\u95ed\u4e0a\u773c\u775b\uff0c\u4e00\u79cd\u5728\u5176\u4ed6<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">a14q\u91cd\u590d\u75c7<\/a>\u7684\u5b69\u5b50\u8eab\u4e0a\u770b\u5230\u7684\u4e0d\u5bfb\u5e38\u7684\u60c5\u51b5\u3002\u5979\u7ecf\u5386\u4e86\u53cd\u590d\u7684\u76ae\u80a4\u79fb\u690d\u548c\u56db\u6b21\u624b\u672f\uff0c\u867d\u7136\u5979\u7684\u773c\u775b\u95ed\u5408\u60c5\u51b5\u6709\u6240\u6539\u5584\uff0c\u4f46\u5979\u5f88\u5bb9\u6613\u611f\u67d3\uff0c\u9700\u8981\u4eba\u5de5\u6cea\u6db2\u6765\u9632\u6b62\u53d8\u5f97\u8fc7\u4e8e\u5e72\u71e5\u3002<\/p>\n\n\n\n<p>\u52309\u5c81\u65f6\uff0c\u6d77\u8389\u7684\u5065\u5eb7\u72b6\u51b5\u603b\u4f53\u4e0a\u975e\u5e38\u597d\uff0c\u4f46\u5979\u7ecf\u5386\u4e86\u591a\u6b21\u5165\u9662\u6cbb\u7597\uff0c\u4ee5\u5e94\u5bf9\u5404\u79cd\u60c5\u51b5\u3002\u8fd9\u4e9b\u624b\u672f\u5305\u62ec\u5341\u4e8c\u6307\u80a0\u7f51(\u80a0\u9053\u819c\u9020\u6210\u7684\u963b\u585e)\uff0c\u5f02\u4f4d\u809b\u95e8(\u809b\u95e8\u5728\u6b63\u5e38\u4f4d\u7f6e\u7684\u524d\u9762)\uff0c\u548c\u816d\u88c2\u624b\u672f\uff0c\u6539\u5584\u98df\u7269\u901a\u9053\u548c\u80c3\u4e4b\u95f4\u7684\u9600\u95e8\u4f5c\u7528\u7684\u5c3c\u68ee\u80c3\u5e95\u6298\u53e0\u672f\uff0c\u773c\u5e95\u6458\u9664\u672f\u3001\u63d2\u5165\u80c3\u7ba1\u548c\u6309\u94ae\uff0c\u4ee5\u4fbf\u76f4\u63a5\u5411\u80c3\u90e8\u8fdb\u98df\uff0c\u5207\u9664\u6241\u6843\u4f53\uff0c\u4ee5\u53ca\u8bb8\u591a\u80f8\u90e8\u611f\u67d3\u3002\u75c5\u4eba\u7ee7\u7eed\u6709\u4fbf\u79d8\u548c\u54ee\u5598\uff0c\u4f46\u8fd9\u4e9b\u90fd\u901a\u8fc7\u836f\u7269\u5f97\u5230\u4e86\u63a7\u5236\u3002<br>\u6d77\u8389\u7684\u811a\u975e\u5e38\u5c0f\uff0c9\u5c81\u65f6\uff0c\u5979\u7684\u811a\u662f7~8\u5c81\u7684\u513f\u7ae5\u5927\u5c0f\u3002\u5728\u53d1\u5c55\u65b9\u9762\uff0c\u5979\u80fd\u591f\u79fb\u52a8\u5979\u7684\u817f\uff0c\u5728\u652f\u6301\u4e0b\u7ad9\u7acb\u548c\u884c\u8d70\u3002\u5979\u53cc\u624b\u7684\u4e09\u4e2a\u5f2f\u66f2\u7684\u624b\u6307\u88ab\u4e00\u4e2a\u50cf\u5a74\u513f\u4e00\u6837\u7684\u526f\u6728\u56fa\u5b9a\u4f4f\uff0c\u4ee5\u4f7f\u66f4\u5bb9\u6613\u62ff\u4e1c\u897f\u3002\u5979\u7528\u624b\u52bf\u548c\u8bed\u8a00\u8fdb\u884c\u8ba8\u8bba\uff0c\u7406\u89e3\u7684\u4e1c\u897f\u6bd4\u5979\u80fd\u8bf4\u7684\u591a\u3002\u5728\u5b66\u6821\uff0c\u5979\u662f\u4e00\u4e2a\u575a\u5b9a\u7684\u5b66\u4e60\u8005\uff0c\u5e76\u5f97\u5230\u4e86\u7279\u6b8a\u6559\u80b2\u58f0\u660e\u7684\u652f\u6301\u3002\u5979\u4e00\u822c\u90fd\u5f88\u5f00\u5fc3\uff0c\u5e73\u6613\u8fd1\u4eba\uff0c\u7279\u522b\u559c\u6b22\u7c97\u66b4\u7684\u63a8\u5012\u7684\u6e38\u620f\u3002\u8d8a\u7c97\u66b4\u8d8a\u597d\u3002<\/p>\n\n\n\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\" style=\"flex-basis:50%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"200\" height=\"233\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-o.jpg\" alt=\"\" class=\"wp-image-18325\"\/><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"200\" height=\"273\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-p.jpg\" alt=\"\" class=\"wp-image-18327\"\/><figcaption class=\"wp-element-caption\">7\u5c81<\/figcaption><\/figure><\/div>\n\n\n<p><\/p>\n<\/div>\n<\/div>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u6709\u5979\uff0c\u6211\u5c31\u4f1a\u8ff7\u5931\u65b9\u5411\u3002 \u5979\u8ba9\u6211\u6bcf\u5929\u90fd\u7b11\u5f97\u5f88\u5f00\u5fc3\u3002\u8fd8\u8981\u4ec0\u4e48\u522b\u7684\u5462\uff1f<\/p>\n<\/blockquote>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%9F%83%E6%96%AF%E6%A2%85\"><\/span><strong>\u57c3\u65af\u6885<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u57c3\u65af\u6885\u6709\u4e00\u4e2a\u6765\u81ea<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">5\u53f7\u67d3\u8272\u4f53\u7684\u77ed\u81c2\u672b\u7aef5p15.31\u7684\u7f3a\u5931<\/a>\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14\u53f7\u756a\u67d3\u8272\u4f53\u7684\u672b\u7aef14q32.11\u7684\u91cd\u590d<\/a>\u3002\u5979\u7684\u6838\u578b\u4e0e\u6d77\u8389\uff08\u4e0a\uff09\u76f8\u540c\uff0c\u4f46\u53d7\u5f71\u54cd\u7684\u7a0b\u5ea6\u4e0d\u540c\u3002\u57c3\u65af\u6885\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">Cri du Chat\u7efc\u5408\u75c7<\/a>\u5178\u578b\u7684\u732b\u6837\u9e23\u53eb\u58f0\u548c\u60b2\u4f24\u7684\u58f0\u97f3\uff0c\u4e0e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">5p13.31\u7684\u9886\u57df\u7f3a\u5931\u6709\u5173<\/a>\u3002\u5979\u6ca1\u6709\u5927\u7684\u5065\u5eb7\u95ee\u9898\uff0c\u4f46\u66fe\u56e0\u5582\u517b\u95ee\u9898\u3001\u80ba\u708e\u3001\u5c3f\u8def\u611f\u67d3\u548c\u53cd\u6d41\u3001\u652f\u6c14\u7ba1\u708e\u548c\u80c3\u80a0\u708e\u800c\u4f4f\u9662\u3002<br>\u5979\u5728\u4e24\u5468\u5927\u7684\u65f6\u5019\u6709\u4e00\u6b21\u766b\u75eb\u53d1\u4f5c\uff0c\u8fd9\u53ef\u80fd\u662f\u53d1\u70ed\u6027\u60ca\u53a5\u3002<\/p>\n\n\n\n<p>\u57c3\u65af\u6885\u5728\u5b50\u5bab\u5185\u505c\u6b62\u751f\u957f\uff0c\u572838\u5468\u65f6\u88ab\u5f15\u4ea7\uff0c\u51fa\u751f\u65f6\u975e\u5e38\u5c0f\u3002\u4f5c\u4e3a\u4e00\u4e2a\u65b0\u751f\u513f\uff0c\u4e3b\u8981\u7684\u62c5\u5fe7\u662f\u5979\u4e0d\u80fd\u7ad9\u7acb\u548c\u808c\u8089\u65e0\u529b\u3002\u5728\u9ad8\u70ed\u91cf\u914d\u65b9\u5976\u7684\u5582\u517b\u4e0b\uff0c\u5979\u7684\u4f53\u91cd\u57287\u4e2a\u6708\u540e\u589e\u52a0\u5230\u4e86\u7b2c50\u767e\u5206\u4f4d\uff0c\u4f46\u5979\u7684\u8eab\u957f\u548c\u5934\u56f4\u5374\u57283%\u7684\u66f2\u7ebf\u4e0a\u3002\u57c3\u65af\u6885\u5728\u5582\u98df\u540e\u7ecf\u5386\u4e86\u4e00\u6b21\u660f\u7761\uff0c\u88ab\u8bca\u65ad\u4e3a\u53cd\u6d41\u548c\u5438\u5165\u6027\u75be\u75c5\uff0c\u5373\u9972\u6599\u4ece\u98df\u7269\u901a\u9053\u6d41\u56de\uff0c\u88ab\u5438\u8fdb\u80ba\u91cc\u3002\u4f7f\u7528\u6d53\u7f29\u7269\u548c\u5c06\u98df\u7269\u4fdd\u7559\u5728\u80c3\u4e2d\u7684\u836f\u7269\u53ef\u4ee5\u51cf\u5c11\u53cd\u6d41\u3002\u6700\u8fd1\u5979\u5f00\u59cb\u51fa\u73b0\u4f4e\u8840\u7cd6\u53d1\u4f5c\uff08\u8840\u7cd6\u503c\u4e0b\u964d\uff09\u3002\u6b64\u7c7b\u75c7\u72b6\u901a\u5e38\u5728\u8f7b\u5ea6\u75be\u75c5\u4e4b\u540e\u51fa\u73b0\uff0c\u76ee\u524d\u6b63\u5728\u8c03\u67e5\u4e2d\u3002<\/p>\n\n\n\n<p>\u56db\u80a2\u5f88\u5c0f\uff0c\u4e94\u5b98\u7279\u5f81\u6709\u7a00\u758f\u7684\u7709\u6bdb\uff0c\u9ad8\u9ad8\u7684\u989d\u5934\uff0c\u5bbd\u6241\u7684\u9f3b\u6881\uff0c\u5927\u7684\u816e\u5e2e\uff08\u4e0b\u5df4\uff09\uff0c\u9f3b\u5b50\u548c\u4e0a\u5507\u4e4b\u95f4\u7684\u6c9f\u975e\u5e38\u7a81\u51fa\uff0c\u4e0b\u988c\u7565\u5c0f\uff0c\u4e0a\u5507\u7565\u7a81\u51fa\u7b49\u7b49\u3002<br>\u572814\u4e2a\u6708\u5927\u65f6\uff0c\u8bf4\u5979\u5c06\u5982\u4f55\u53d1\u80b2\u8fd8\u4e3a\u65f6\u8fc7\u65e9\uff0c\u4f46\u5979\u975e\u5e38\u5584\u4e8e\u4ea4\u9645\u3001\u53cd\u5e94\u7075\u654f\uff0c\u5e76\u4e14\u80fd\u5f88\u597d\u5730\u8bb0\u4f4f\u522b\u4eba\u3002\u57c3\u65af\u6885\u80fd\u591f\u72ec\u7acb\u5750\u4e0b\u5e76\u8868\u660e\u5979\u53ef\u4ee5\u7ffb\u8eab\uff0c\u4f46\u9009\u62e9\u4e0d\u8fd9\u6837\u505a\u3002<br>\u5979\u4ece\u51fa\u751f\u5f00\u59cb\u5c31\u63a5\u53d7\u7269\u7406\u548c\u804c\u4e1a\u6cbb\u7597\uff0c\u5e76\u4e14\u4ece8\u4e2a\u6708\u5f00\u59cb\u63a5\u53d7\u4f20\u5bfc\u6559\u80b2\u3002<\/p>\n\n\n\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\" style=\"flex-basis:50%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"200\" height=\"200\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-q.jpg\" alt=\"\" class=\"wp-image-18329\"\/><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"200\" height=\"150\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-r.jpg\" alt=\"\" class=\"wp-image-18331\"\/><figcaption class=\"wp-element-caption\">\u751f\u540e14\u4e2a\u6708<\/figcaption><\/figure><\/div><\/div>\n<\/div>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u5979\u662f\u5982\u6b64\u7684\u5145\u6ee1\u7231\u548c\u5feb\u4e50\uff0c\u5e76\u4e14\u5177\u6709\u611f\u67d3\u529b\u3002<\/p>\n<\/blockquote>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8A%B3%E6%8B%89\"><\/span><strong>\u52b3\u62c9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u52b3\u62c9\u6709\u4e00\u4e2a\u6765\u81ea<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">4p16.3\u76844\u53f7\u67d3\u8272\u4f53\u7684\u957f\u81c2\u672b\u7aef\u7684\u7f3a\u5931<\/a>\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14q32.2\u768414\u53f7\u67d3\u8272\u4f53\u672b\u7aef\u7684\u91cd\u590d<\/a>\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u672b\u7aef\u5e264p16.3\u7684\u7f3a\u5931<\/a>\u662f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">Wolf-Hirschhorn\u7efc\u5408\u75c7<\/a>\u5f15\u8d77\u7684\uff0c\u4f46\u52b3\u62c9\u5e76\u4e0d\u5177\u5907\u8fd9\u79cd\u8457\u540d\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u5178\u578b\u7279\u5f81\u3002\u5979\u5e74\u9f84\u8f83\u5c0f\uff0c\u6709\u8f7b\u5fae\u7684\u53d1\u80b2\u8fdf\u7f13\uff0c\u4f46\u57288\u5c81\u65f6\u5df2\u7ecf\u5b66\u4f1a\u4e86\u8d70\u8def\u548c\u9a91\u81ea\u884c\u8f66\u3002\u5979\u6700\u521d\u8bf4\u4e86\u4e24\u53e5\u8bdd\uff0c\u5e76\u8bf4\u4e86\u516b\u4e2a\u77ed\u53e5\u5b50\u3002\u5979\u4e0a\u4e86\u4e3b\u6d41\u5b66\u6821\uff0c\u5b66\u4f1a\u4e86\u9605\u8bfb\u548c\u5199\u4f5c\uff0c\u53ef\u80fd\u662f\u4e09\u5c81\u513f\u7ae5\u7684\u5178\u578b\u6c34\u5e73\u3002\u5979\u559c\u6b22\u548c\u5176\u4ed6\u5b69\u5b50\u4e00\u8d77\u73a9\u800d\u548c\u793e\u4ea4\u3002\u5979\u975e\u5e38\u5065\u5eb7\u3002\u52b3\u62c9\u8868\u73b0\u51fa\u8f7b\u5fae\u7684\u9762\u90e8\u7279\u5f81\u5f02\u5e38\uff0c\u5de6\u4fa7\u6709\u4e00\u79cd\u88ab\u79f0\u4e3a\u675c\u5b89\u7efc\u5408\u75c7\u7684\u773c\u7403\u8fd0\u52a8\u969c\u788d\uff0c\u4f46\u4e0d\u9700\u8981\u6cbb\u7597\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%9A%E4%BC%A6\"><\/span><strong>\u4e9a\u4f26<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\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\" style=\"flex-basis:30%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"200\" height=\"280\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-s.jpg\" alt=\"\" class=\"wp-image-18333\"\/><figcaption class=\"wp-element-caption\">6\u6b73<\/figcaption><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:70%\">\n<p>\u4e9a\u4f26\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">18p11.31\u768418\u53f7\u67d3\u8272\u4f53\u7684\u77ed\u81c2\u672b\u7aef\u7f3a\u5931<\/a>\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14q32.3\u768414\u53f7\u67d3\u8272\u4f53\u7684\u672b\u7aef\u91cd\u590d<\/a>\u3002 \u4ed6\u662f\u5728\u6b63\u5e38\u6000\u5b55\u540e\u51fa\u751f\u7684\uff0c\u4f46\u51fa\u751f\u65f6\u4f53\u91cd\u610f\u5916\u504f\u4f4e\uff0c\u5e76\u6709\u5c0f\u5934\u548c\u777e\u4e38\u6ede\u7559\u7b491~2\u4e2a\u7578\u5f62\u3002<\/p>\n\n\n\n<p>\u5728\u51fa\u751f\u65f6\u8fdb\u884c\u62bd\u5438\u548c\u6c27\u6c14\u5438\u5f15\u540e\uff0c\u4e9a\u4f26\u80fd\u5e94\u4ed8\uff0c\u4f46\u5728\u5582\u98df\u548c\u541e\u54bd\u65b9\u9762\u6709\u56f0\u96be\u3002\u4e8b\u5b9e\u8bc1\u660e\uff0c\u6ca1\u6709\u660e\u663e\u7684\u5148\u5929\u6027\u7578\u5f62\uff0c\u4f46\u7ecf\u5e38\u56e0\u75c5\u6bd2\u611f\u67d3\u800c\u6b7b\u4ea1\uff0c6\u4eba\u6709\u53cd\u590d\u7684\u80f8\u90e8\u611f\u67d3\uff0c\u5e76\u5728\u670d\u7528\u6297\u54ee\u5598\u836f\u7269\u3002\u4ed6\u8fd8\u7ecf\u5386\u4e862~3\u6b21\u70ed\u6027\u60ca\u53a5\uff0c\u4f46\u6ca1\u6709\u88ab\u8bca\u65ad\u4e3a\u766b\u75eb\u3002\u4e9a\u4f26\u4e5f\u6709\u80c3\u75c5\u548c\u4e25\u91cd\u7684\u4fbf\u79d8\u3002<\/p>\n\n\n\n<p>\u4e9a\u4f26\u8fd8\u4e0d\u80fd\u5750\u7740\u6216\u8d70\u8def\uff0c\u9700\u8981\u5f88\u591a\u5e2e\u52a9\u624d\u80fd\u4fdd\u6301\u6d3b\u52a8\u80fd\u529b\uff0c\u4f46\u4ed6\u53ef\u4ee5\u4ece\u4e00\u8fb9\u6eda\u5230\u53e6\u4e00\u8fb9\u30026\u5c81\u7684\u65f6\u5019\uff0c\u4ed6\u4ecd\u7136\u65e0\u6cd5\u6293\u63e1\u6216\u6301\u6709\uff0c\u4f46\u53ef\u4ee5\u7528\u73a9\u5177\u6e38\u6cf3\uff0c\u5e76\u7528\u5934\u90e8\u64cd\u4f5c\u5f00\u5173\u8bbe\u5907\u3002\u4ed6\u6709\u5f02\u5e38\u9ad8\u7684\u808c\u8089\u5f20\u529b\uff0c\u5e76\u670d\u7528\u808c\u8089\u677e\u5f1b\u5242\u5df4\u6c2f\u82ac\u3002\u4e9a\u4f26\u901a\u8fc7\u8bed\u8a00\u548c\u773c\u795e\u4ea4\u6d41\uff0c\u5e76\u5728\u7279\u6b8a\u5b66\u6821\u4e2d\u88ab\u8bc1\u660e\u662f\u4e00\u4e2a\u5177\u6709\u826f\u597d\u7684\u8bb0\u5fc6\u529b\u7684\uff0c\u575a\u5b9a\u7684\u5b66\u4e60\u8005\u3002<\/p>\n<\/div>\n<\/div>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u4ed6\u975e\u5e38\u5f00\u5fc3\uff0c\u559c\u6b22\u548c\u5bb6\u4eba\u5728\u4e00\u8d77\uff0c\u8fd9\u5bf9\u6211\u4eec\u7684\u751f\u6d3b\u8d21\u732e\u5f88\u5927\u3002<\/p>\n<\/blockquote>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%87%8D%E5%A4%8D%E6%98%AF%E5%A6%82%E4%BD%95%E4%BA%A7%E7%94%9F%E7%9A%84%EF%BC%9F\"><\/span>\u91cd\u590d<strong>\u662f\u5982\u4f55\u4ea7\u751f\u7684\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\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\" style=\"flex-basis:60%\">\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14q\u7684\u91cd\u590d<\/a>\u662f\uff0c\u662f\u4e00\u65b9\u7236\u6bcd\u67d3\u8272\u4f53\u518d\u7f16\u6210\u7684\u7ed3\u679c\u3002 \u8fd9\u901a\u5e38\u662f\u4e00\u79cd\u5e73\u8861\u6613\u4f4d\uff0c\u5373\u5728\u67d3\u8272\u4f53\u4e4b\u95f4\u8fdb\u884c\u7269\u8d28\u4ea4\u6362\uff0c\u4f46\u6ca1\u6709\u7269\u8d28\u4e22\u5931\u6216\u83b7\u5f97\uff0c\u56e0\u6b64\u7236\u6bcd\u901a\u5e38\u6ca1\u6709\u5065\u5eb7\u6216\u53d1\u80b2\u95ee\u9898\u3002\u6709\u65f6\uff0c\u7236\u6bcd\u4e00\u65b9\u88ab\u53d1\u73b0\u6709\u4e0e\u5b69\u5b50\u76f8\u540c\u7684\u91cd\u590d\u3002<\/p>\n\n\n\n<p>\u5728\u7236\u6bcd\u53cc\u65b9\u90fd\u6709\u6b63\u5e38\u67d3\u8272\u4f53\u7684\u60c5\u51b5\u4e0b\uff0c\u5176\u4ed6\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14q\u7684\u91cd\u590d<\/a>\u4e5f\u4f1a\u53d1\u751f\u3002\u9057\u4f20\u5b66\u5bb6\u5bf9\u6b64\u4f7f\u7528\u7684\u672f\u8bed\u662fde novo(dn)\u3002<br>\u65b0\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14q\u7684\u91cd\u590d<\/a>\uff0c\u662f\u7531\u7236\u6bcd\u7684\u7cbe\u5b50\u6216\u5375\u7ec6\u80de\u5f62\u6210\u65f6\u6b63\u5e38\u53d1\u751f\u7684\u53d8\u5316\u5f15\u8d77\u7684\u3002\u4f17\u6240\u5468\u77e5\uff0c\u4e00\u65e6\u5375\u7ec6\u80de\u548c\u7cbe\u5b50\u7ec6\u80de\u5f62\u6210\uff0c\u67d3\u8272\u4f53\u5fc5\u987b\u88ab\u6253\u7834\u5e76\u91cd\u65b0\u7ec4\u5408\uff0c\u4f46\u8fd9\u53ea\u662f\u6709\u65f6\u4f1a\u5f15\u8d77\u95ee\u9898\u3002<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:40%\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"600\" height=\"600\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/14q-distal-duplications-t-edited.png\" alt=\"\" class=\"wp-image-18344\"\/><figcaption class=\"wp-element-caption\">\u5e73\u8861\u6613\u4f4d<\/figcaption><\/figure><\/div><\/div>\n<\/div>\n\n\n\n<p>\u5207\u65ad\u4e0e\u518d\u7ed3\u5408\u662f\u81ea\u7136\u8fc7\u7a0b\u7684\u4e00\u90e8\u5206\uff0c\u4f5c\u4e3a\u7236\u6bcd\u6211\u4eec\u4e0d\u80fd\u6539\u53d8\u6216\u63a7\u5236\u5b83\u3002\u4e16\u754c\u5404\u5730\u548c\u5404\u79cd\u80cc\u666f\u7684\u513f\u7ae5\u90fd\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14q\u7684\u91cd\u590d<\/a>\u53d1\u751f\u3002 \u76ee\u524d\u8fd8\u4e0d\u77e5\u9053\u73af\u5883\u3001\u996e\u98df\u6216\u751f\u6d3b\u65b9\u5f0f\u56e0\u7d20\u662f\u5426\u4f1a\u5bfc\u81f4\u8fd9\u4e9b\u75be\u75c5\u3002\u7236\u6bcd\u4e2d\u6ca1\u6709\u4e00\u4e2a\u4eba\u88ab\u8bc1\u660e\u5728\u6000\u5b55\u524d\u6216\u6000\u5b55\u671f\u95f4\u9020\u6210\u4e86\u8fd9\u79cd\u91cd\u590d\uff0c\u4e5f\u6ca1\u6709\u529e\u6cd5\u9632\u6b62\u5b83\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<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BC%9A%E5%86%8D%E6%AC%A1%E5%8F%91%E7%94%9F%E5%90%97\"><\/span><strong>\u4f1a\u518d\u6b21\u53d1\u751f\u5417?<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6000\u5b55\u65f6\u51fa\u73b0<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14q\u7684\u91cd\u590d<\/a>\u7684\u53ef\u80fd\u6027\u53d6\u51b3\u4e8e\u7236\u6bcd\u7684\u67d3\u8272\u4f53\u3002\u5982\u679c\u7236\u6bcd\u53cc\u65b9\u90fd\u6709\u6b63\u5e38\u7684\u67d3\u8272\u4f53\uff0c\u90a3\u4e48<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">14q\u7684\u91cd\u590d<\/a>\u7684\u60c5\u51b5\u53d1\u751f\u7684\u53ef\u80fd\u6027\u4e0d\u5927\u3002<br>\u5982\u679c\u8840\u6db2\u68c0\u67e5\u663e\u793a\u7236\u6bcd\u4e2d\u7684\u4e00\u65b9\u6709\u6d89\u53ca14q\u7684\u67d3\u8272\u4f53\u53d8\u5316\uff0c\u90a3\u4e48\u518d\u6b21\u6000\u5b55\u65f6\u51fa\u73b0\u67d3\u8272\u4f53\u53d8\u5316\u7684\u53ef\u80fd\u6027\u5c31\u5f88\u5927\u901a\u8fc7\u4e0e\u5176\u4ed6\u5bb6\u5ead\u6210\u5458\u8ba8\u8bba\u67d3\u8272\u4f53\u53d8\u5316\uff0c\u4ed6\u4eec\u4e5f\u53ef\u4ee5\u8fdb\u884c\u8840\u6db2\u68c0\u67e5\uff0c\u4ee5\u4e86\u89e3\u81ea\u5df1\u662f\u5426\u6709\u67d3\u8272\u4f53\u53d8\u5316\u3002<br>\u9057\u4f20\u5b66\u4e13\u5bb6\u53ef\u4ee5\u7ed9\u60a8\u7684\u5bb6\u5ead\u63d0\u4f9b\u66f4\u591a\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<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%94%AF%E6%8F%B4%E4%B8%8E%E8%B5%84%E8%AE%AF\"><\/span><strong>\u652f\u63f4\u4e0e\u8d44\u8baf<\/strong><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>\u7f55\u89c1\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u7578\u53d8\u652f\u6301\u5c0f\u7ec4\u3001<br>G1, The Stables, Station Road West, Oxted, Surrey RH8 9EE, United Kingdom<br>\u7535\u8bdd\/FAX:+44(0)1883 723356<br>info@rarechromo.org I www.rarechromo.org<\/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<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8A%A0%E5%85%A5_Unique_%E4%BB%A5%E8%8E%B7%E5%BE%97%E5%AE%B6%E6%97%8F%E8%81%94%E7%B3%BB%E3%80%81%E8%B5%84%E8%AE%AF%E5%92%8C%E6%94%AF%E6%8F%B4%E3%80%82\"><\/span><strong>\u52a0\u5165 Unique \u4ee5\u83b7\u5f97\u5bb6\u65cf\u8054\u7cfb\u3001\u8d44\u8baf\u548c\u652f\u63f4\u3002<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>Unique\u662f\u4e00\u4e2a\u4e0d\u63a5\u53d7\u653f\u5e9c\u8d44\u52a9\u7684\u6148\u5584\u673a\u6784\uff0c\u5b8c\u5168\u4f9d\u9760\u6350\u6b3e\u3001\u8d60\u6b3e\u6765\u8fd0\u4f5c\u3002<br>\u5173\u4e8e\u8865\u52a9\u91d1\uff0c\u5982\u679c\u53ef\u4ee5\u7684\u8bdd\uff0c\u8bf7\u901a\u8fc7\u6211\u4eec\u7684\u7f51\u7ad9\u6350\u6b3e\u3002www.rarechromo.org \u6211\u4eec\u5c06\u611f\u8c22\u60a8\u7684\u5e2e\u52a9\u3002<\/p>\n<\/div><\/div>\n\n\n\n<p>\u672c\u4fe1\u606f\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\u6709\u5173\u57fa\u56e0\u53d8\u5316\u7684\u4fe1\u606f\u662f\u4e00\u4e2a\u53d1\u5c55\u975e\u5e38\u8fc5\u901f\u7684\u9886\u57df\uff0c\u672c\u6307\u5357\u4e2d\u7684\u4fe1\u606f\u88ab\u8ba4\u4e3a\u662f\u51fa\u7248\u65f6\u7684\u6700\u4f73\u4fe1\u606f\uff0c\u5c3d\u7ba1\u6709\u4e9b\u4e8b\u5b9e\u540e\u6765\u53ef\u80fd\u4f1a\u53d1\u751f\u53d8\u5316\uff0cUnique\uff0c\u5c3d\u6700\u5927\u52aa\u529b\u8ddf\u4e0a\u4e0d\u65ad\u53d8\u5316\u7684\u4fe1\u606f\uff0c\u5e76\u5728\u5fc5\u8981\u65f6\u5ba1\u67e5\u5df2\u51fa\u7248\u7684\u6307\u5357\u3002\u672c\u6307\u5357\u7531Unique\u7f16\u64b0\uff0c\u5e76\u7531\u52a0\u62ff\u5927\u8428\u65af\u5361\u901a\u7687\u5bb6\u5927\u5b66\u533b\u9662\u533b\u5b66\u9057\u4f20\u5b66\u7cfb\u4e3b\u4efbEdmund Lemire\u535a\u58eb\uff0c\u548c\u82f1\u56fd\u534e\u5a01\u5927\u5b66\u751f\u6b96\u9057\u4f20\u5b66\u6559\u6388Marge Harten BSc PhD MD\u5ba1\u6838\u3002<br>\u8457\u4f5c\u6743(Unique 2007\u5e74\u7248)<\/p>\n\n\n\n<p>\u7f55\u89c1\u7684\u67d3\u8272\u4f53\u7578\u53d8\u652f\u6301\u5c0f\u7ec4\u6148\u5584\u7f16\u53f71110661<br>\u82f1\u683c\u5170\u548c\u5a01\u5c14\u58eb\u516c\u53f8\u7f16\u53f75460413 \u6ce8\u518c<\/p>\n<\/div><\/div>\n","protected":false},"excerpt":{"rendered":"14q\u7684\u91cd\u590d 14 \u53f7\u67d3\u8272\u4f53\u91cd\u590d\u662f\u4e00\u79cd\u7f55&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":523,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[251],"tags":[326,327,332],"class_list":["post-18296","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-treatise-zh-hans","tag-326","tag-327","tag-332"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/18296","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=18296"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/18296\/revisions"}],"predecessor-version":[{"id":109692,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/18296\/revisions\/109692"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/523"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=18296"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=18296"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=18296"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}