{"id":111807,"date":"2025-07-07T09:56:18","date_gmt":"2025-07-07T00:56:18","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/"},"modified":"2025-08-22T13:55:30","modified_gmt":"2025-08-22T04:55:30","slug":"roberts-syndrome-esco2-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/?lang=zh-hans","title":{"rendered":"\u7f57\u4f2f\u8328\u7efc\u5408\u75c7\uff08ESCO2\u76f8\u5173\u7c98\u8fde\u4f53\u75c5\uff09\u3010ESCO2\u3011"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\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\/roberts-syndrome-esco2-overview\/?lang=zh-hans\/#%E9%81%97%E4%BC%A0%E5%9F%BA%E5%9B%A0%E5%8C%BA%E5%9F%9F_%E7%9B%B8%E5%85%B3%E5%9F%BA%E5%9B%A0%E5%8C%BA%E5%9F%9F\" >\u9057\u4f20\u57fa\u56e0\u533a\u57df | \u76f8\u5173\u57fa\u56e0\u533a\u57df<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/?lang=zh-hans\/#%E7%96%BE%E7%97%85%E5%90%8D%E7%A7%B0\" >\u75be\u75c5\u540d\u79f0<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/?lang=zh-hans\/#%E9%89%B4%E5%88%AB%E4%B8%8E%E7%9B%B8%E5%85%B3%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E8%A7%A3%E9%87%8A\" >\u9274\u522b\u4e0e\u76f8\u5173\u7efc\u5408\u75c7\u7684\u89e3\u91ca<\/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\/roberts-syndrome-esco2-overview\/?lang=zh-hans\/#%E6%B5%81%E8%A1%8C%E7%97%85%E5%AD%A6\" >\u6d41\u884c\u75c5\u5b66<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/?lang=zh-hans\/#%E7%97%87%E7%8A%B6\" >\u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/?lang=zh-hans\/#%E7%97%85%E5%9B%A0_Etiology\" >\u75c5\u56e0 | Etiology<\/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\/roberts-syndrome-esco2-overview\/?lang=zh-hans\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u5f15\u7528\u6587\u732e\uff5cReferences<\/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\/roberts-syndrome-esco2-overview\/?lang=zh-hans\/#%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\" >\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%97%E4%BC%A0%E5%9F%BA%E5%9B%A0%E5%8C%BA%E5%9F%9F_%E7%9B%B8%E5%85%B3%E5%9F%BA%E5%9B%A0%E5%8C%BA%E5%9F%9F\"><\/span>\u9057\u4f20\u57fa\u56e0\u533a\u57df | \u76f8\u5173\u57fa\u56e0\u533a\u57df<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><strong>ESCO2<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"26\" src=\"\/nipt\/wp-content\/uploads\/2025\/07\/ESCO2-hgtIdeo_genome_asia_37499f_724fb0-1024x26.png\" alt=\"ESCO2\" class=\"wp-image-103303\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>ESCO2<br>ESCO2\u57fa\u56e0\uff08\u5168\u540d\uff1aEstablishment of Sister Chromatid Cohesion N-Acetyltransferase 2\uff09\u4f4d\u4e8e\u4eba\u7c7b\u67d3\u8272\u4f538\u53f7\u77ed\u81c221.1\u533a\uff08GRCh38\u53c2\u7167\uff1achr8:27,771,949\u201327,819,660\uff09\u3002\u8be5\u57fa\u56e0\u7f16\u7801\u4e00\u79cd\u540d\u4e3a\u201c\u4e59\u9170\u8f6c\u79fb\u9176\u201d\u7684\u9176\uff0c\u7531601\u4e2a\u6c28\u57fa\u9178\u7ec4\u6210\u3002<\/p>\n\n\n\n<p>\u8fd9\u79cd\u9176\u7684\u4f5c\u7528\u662f\u5728\u7ec6\u80de\u5206\u88c2\u65f6\u5e2e\u52a9\u201c\u59d0\u59b9\u67d3\u8272\u5355\u4f53\u201d\uff08\u5373\u5177\u6709\u76f8\u540cDNA\u7684\u4e24\u6761\u67d3\u8272\u4f53\uff09\u6b63\u786e\u914d\u5bf9\u5e76\u5206\u79bb\u3002\u5177\u4f53\u800c\u8a00\uff0cESCO2\u901a\u8fc7\u4e59\u9170\u5316\u201cSMC3\u201d\u86cb\u767d\u8d28\uff0c\u786e\u4fdd\u67d3\u8272\u4f53\u80fd\u591f\u4fdd\u6301\u7d27\u5bc6\u7ed3\u5408\u3002<\/p>\n\n\n\n<p>\u8fd9\u4e00\u529f\u80fd\u53ea\u5728DNA\u590d\u5236\u7684\u7ec6\u80de\u5468\u671f\u7684\u201cS\u671f\u201d\uff08\u7ec6\u80de\u5206\u88c2\u51c6\u5907\u671f\uff09\u5185\u8d77\u4f5c\u7528\u3002\u5728S\u671f\uff0cESCO2\u4e0e\u5176\u4ed6DNA\u590d\u5236\u76f8\u5173\u7684\u88c5\u7f6e\uff08\u5982PCNA\uff08\u589e\u6b96\u7ec6\u80de\u6838\u6297\u539f\uff09\u548cMCM\u89e3\u65cb\u9176\uff08\u89e3\u5f00DNA\u7684\u9176\uff09\uff09\u534f\u540c\u5de5\u4f5c\u3002<\/p>\n\n\n\n<p>\u56e0\u6b64\uff0cESCO2\u662f\u7ec6\u80de\u5206\u88c2\u6240\u9700\u7684\u57fa\u672c\u673a\u5236\u4e4b\u4e00\uff0c\u82e5\u673a\u5236\u51fa\u73b0\u95ee\u9898\uff0c\u67d3\u8272\u4f53\u5c31\u65e0\u6cd5\u6b63\u5e38\u5206\u914d\uff0c\u8fdb\u800c\u5f71\u54cd\u8eab\u4f53\u7684\u53d1\u80b2\u548c\u5668\u5b98\u7684\u5f62\u6210\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E7%97%85%E5%90%8D%E7%A7%B0\"><\/span>\u75be\u75c5\u540d\u79f0<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>&nbsp;\u7531\u53cc\u4eb2\u5206\u522b\u4f20\u9012\u4e00\u4e2a\u53d8\u5f02\u7684ESCO2\u57fa\u56e0\u5f15\u53d1\u7684\u75be\u75c5\u4e3a\u201c\u7f57\u4f2f\u8328\u7efc\u5408\u75c7\uff08Roberts syndrome\uff0c\u7b80\u79f0RBS\uff0cOMIM\u53f7\uff1a268300\uff09\u201d\u3002\u7f57\u4f2f\u8328\u7efc\u5408\u75c7\u662f\u4e00\u79cd\u6781\u4e3a\u7f55\u89c1\u7684\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20\u75c5\u3002\u8fd9\u610f\u5473\u7740\u5f53\u7236\u6bcd\u53cc\u65b9\u90fd\u643a\u5e26\u540c\u4e00\u57fa\u56e0\u7684\u7a81\u53d8\u65f6\uff0c\u5b50\u5973\u53ef\u80fd\u4f1a\u8868\u73b0\u51fa\u6b64\u75c5\u75c7\u3002<\/p>\n\n\n\n<p>\u7f57\u4f2f\u8328\u7efc\u5408\u75c7\u5c5e\u4e8e\u201c\u7c98\u8fde\u4f53\u75c5\u201d\uff08cohesinopathy\uff09\u7684\u4e00\u79cd\u3002\u7c98\u8fde\u4f53\u75c5\u662f\u7531\u4e8e\u67d3\u8272\u4f53\u5206\u88c2\u548c\u6392\u5217\u6240\u4f9d\u8d56\u7684\u201c\u7c98\u8fde\u4f53\u590d\u5408\u4f53\u201d\uff08cohesin complex\uff09\u529f\u80fd\u5931\u5e38\u5f15\u8d77\u7684\u4e00\u7cfb\u5217\u53d1\u80b2\u969c\u788d\u3002<\/p>\n\n\n\n<p>\u7f57\u4f2f\u8328\u7efc\u5408\u75c7\u7684\u4e3b\u8981\u7279\u5f81\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u80ce\u513f\u671f\u5f00\u59cb\u7684\u660e\u663e\u751f\u957f\u8fdf\u7f13\uff08\u80ce\u5185\u53d1\u80b2\u8fdf\u7f13\uff09<br><\/li>\n\n\n\n<li>\u5bf9\u79f0\u6027\u7684\u56db\u80a2\u53d1\u80b2\u5f02\u5e38\uff08\u5c24\u5176\u662f\u56db\u80a2\u7684\u7f29\u77ed\uff09<br><\/li>\n\n\n\n<li>\u5507\u816d\u88c2\u7b49\u9762\u90e8\u7578\u5f62<br><\/li>\n\n\n\n<li>\u67d3\u8272\u4f53\u68c0\u67e5\u4e2d\u53ef\u89c1\u7279\u6709\u7684\u201cRS\u6548\u5e94\u201d<br>\n<ul class=\"wp-block-list\">\n<li>\u201cRS\u6548\u5e94\u201d\u6307\u7684\u662f\u5728\u67d3\u8272\u4f53\u663e\u5fae\u955c\u56fe\u50cf\u4e2d\uff0c\u67d3\u8272\u4f53\u7684\u4e2d\u5fc3\u90e8\u5206\u63d0\u524d\u5206\u79bb\u7684\u201c\u65e9\u671f\u7740\u4e1d\u7c92\u5206\u79bb\u201d\uff08premature centromere separation\uff09\u6216\u201c\u5f02\u67d3\u8272\u8d28\u6392\u65a5\u201d\uff08heterochromatin repulsion\uff09\u73b0\u8c61\u3002\u8fd9\u4e9b\u662f\u7f57\u4f2f\u8328\u7efc\u5408\u75c7\u7684\u8bca\u65ad\u7ebf\u7d22\u3002<br><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u8fd9\u79cd\u75c5\u901a\u5e38\u5728\u5a74\u513f\u51fa\u751f\u524d\u5c31\u5f00\u59cb\u8868\u73b0\u51fa\u75c7\u72b6\uff0c\u51fa\u751f\u65f6\u5f80\u5f80\u80fd\u770b\u5230\u660e\u663e\u7684\u8eab\u4f53\u5f02\u5e38\uff0c\u56e0\u6b64\u5bf9\u5bb6\u5ead\u6765\u8bf4\u662f\u975e\u5e38\u4ee4\u4eba\u7126\u8651\u7684\u75be\u75c5\u3002\u7136\u800c\uff0c\u75c7\u72b6\u548c\u75c5\u60c5\u7684\u4e25\u91cd\u7a0b\u5ea6\u6709\u5f88\u5927\u7684\u5dee\u5f02\uff0c\u6709\u4e9b\u4eba\u53ef\u4ee5\u76f8\u5bf9\u8f7b\u5fae\u5730\u751f\u957f\u5e76\u751f\u6d3b\u4e0b\u53bb\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%89%B4%E5%88%AB%E4%B8%8E%E7%9B%B8%E5%85%B3%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E8%A7%A3%E9%87%8A\"><\/span><strong>\u9274\u522b\u4e0e\u76f8\u5173\u7efc\u5408\u75c7\u7684\u89e3\u91ca<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>&nbsp;\u4e00\u4e9b\u4e0e\u7f57\u4f2f\u8328\u7efc\u5408\u75c7\u975e\u5e38\u76f8\u4f3c\u7684\u7f55\u89c1\u75c5\u4e5f\u88ab\u62a5\u9053\uff0c\u5305\u62ec\u201cSC\u816d\u80a2\u75c7\u5019\u7fa4\u201d\uff08SC phocomelia syndrome\uff09\u548c\u201c\u30b8\u30e5\u30d0\u30fc\u30b0-\u30d8\u30a4\u30ef\u30fc\u30c9\u75c7\u5019\u7fa4\u201d\uff08Juberg-Hayward syndrome\uff0cJHS\uff09\u3002\u8fd9\u4e9b\u75be\u75c5\u4e5f\u7531ESCO2\u57fa\u56e0\u7a81\u53d8\u5f15\u8d77\u3002<\/p>\n\n\n\n<p>\u8fd9\u4e9b\u75be\u75c5\u7684\u75c7\u72b6\u901a\u5e38\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5507\u816d\u88c2<br><\/li>\n\n\n\n<li>\u5c0f\u5934\u75c7\uff08\u5934\u90e8\u8f83\u5c0f\uff09<br><\/li>\n\n\n\n<li>\u56db\u80a2\u77ed\u5c0f\u6216\u7f3a\u5931<br><\/li>\n\n\n\n<li>\u4ece\u51fa\u751f\u5f00\u59cb\u7684\u751f\u957f\u8fdf\u7f13<br><\/li>\n<\/ul>\n\n\n\n<p>\u7136\u800c\uff0c\u30b8\u30e5\u30d0\u30fc\u30b0-\u30d8\u30a4\u30ef\u30fc\u30c9\u75c7\u5019\u7fa4\uff08JHS\uff09\u901a\u5e38\u6bd4\u7f57\u4f2f\u8328\u7efc\u5408\u75c7\u8f7b\u5fae\uff0c\u4e14\u667a\u529b\u53d1\u80b2\u901a\u5e38\u6b63\u5e38\u3002JHS\u8fd8\u5177\u6709\u4e00\u4e9b\u7279\u5f81\uff0c\u5982\u8098\u90e8\u9aa8\u878d\u5408\uff08\u8098\u5173\u8282\u878d\u5408\uff09\u3002<\/p>\n\n\n\n<p>\u6709\u4e9b\u7814\u7a76\u8005\u8ba4\u4e3aJHS\u662f\u7f57\u4f2f\u8328\u7efc\u5408\u75c7\u7684\u4e00\u79cd\u53d8\u79cd\uff0c\u800c\u5176\u4ed6\u4eba\u5219\u8ba4\u4e3a\u5b83\u662f\u4e00\u79cd\u5b8c\u5168\u4e0d\u540c\u7684\u75be\u75c5\u3002Kantaputra\u7b49\u4eba\uff082021\uff09\u7684\u7814\u7a76\u8868\u660e\uff0cJHS\u5e94\u5f53\u88ab\u4f5c\u4e3a\u4e00\u79cd\u72ec\u7acb\u7684\u75be\u75c5\u6765\u5206\u7c7b\u3002<\/p>\n\n\n\n<p>\u56e0\u6b64\uff0c\u5373\u4f7f\u662f\u540c\u4e00\u57fa\u56e0\u76f8\u5173\u7684\u75be\u75c5\uff0c\u5176\u75c7\u72b6\u8303\u56f4\u4e5f\u975e\u5e38\u5e7f\u6cdb\uff0c\u4e14\u96be\u4ee5\u5212\u5b9a\u660e\u786e\u7684\u754c\u9650\u3002\u56e0\u6b64\uff0c\u5f53\u68c0\u6d4b\u5230ESCO2\u57fa\u56e0\u7684\u7a81\u53d8\u65f6\uff0c\u7ed3\u5408\u75c7\u72b6\u8868\u73b0\u548c\u8eab\u4f53\u7279\u5f81\uff0c\u4e0e\u4e34\u5e8a\u9057\u4f20\u5b66\u4e13\u5bb6\u4e00\u540c\u8fdb\u884c\u8be6\u7ec6\u8bc4\u4f30\u662f\u975e\u5e38\u91cd\u8981\u7684\u3002<\/p>\n\n\n\n<p>\u6982\u8ff0 | \u6982\u8ff0<br>\u7f57\u4f2f\u8328\u7efc\u5408\u75c7\u662f\u201c\u7c98\u8fde\u4f53\u75c5\u201d\uff08cohesinopathy\uff09\u7684\u4e00\u79cd\u3002\u8be5\u7ec4\u75be\u75c5\u53d1\u751f\u5728\u7ec6\u80de\u5206\u88c2\u8fc7\u7a0b\u4e2d\uff0c\u67d3\u8272\u4f53\u7684\u914d\u5bf9\uff08\u59d0\u59b9\u67d3\u8272\u5355\u4f53\u7684\u7ed3\u5408\uff09\u65e0\u6cd5\u6b63\u5e38\u8fdb\u884c\uff0c\u4ece\u800c\u5bfc\u81f4\u5404\u79cd\u95ee\u9898\u3002<\/p>\n\n\n\n<p>\u6b64\u75c5\u7684\u6700\u5927\u7279\u5f81\u662f\u201cRS\u6548\u5e94\u201d\uff0c\u5373\u67d3\u8272\u4f53\u51fa\u73b0\u7279\u6709\u7684\u5f02\u5e38\uff0c\u663e\u5fae\u955c\u4e0b\u53ef\u4ee5\u89c2\u5bdf\u5230\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u7684\u7740\u4e1d\u7c92\u63d0\u524d\u5206\u79bb\uff08\u65e9\u671f\u7740\u4e1d\u7c92\u5206\u79bb\uff0cPCS\uff09<br><\/li>\n\n\n\n<li>\u67d3\u8272\u4f53\u7684\u4e00\u90e8\u5206\uff08\u5c24\u5176\u662f\u5f02\u67d3\u8272\u8d28\u90e8\u5206\uff09\u51fa\u73b0\u6269\u5c55\u6216\u6392\u65a5\u73b0\u8c61\uff08\u5f02\u67d3\u8272\u8d28\u6392\u65a5\uff0cHR\uff09<br><\/li>\n<\/ul>\n\n\n\n<p>\u8fd9\u4e9b\u662f\u7f57\u4f2f\u8328\u7efc\u5408\u75c7\u7684\u7279\u5f02\u6027\u8bca\u65ad\u6807\u5fd7\u3002<\/p>\n\n\n\n<p>\u6b64\u5916\uff0cESCO2\u57fa\u56e0\u7a81\u53d8\u4f1a\u5bfc\u81f4\u7c98\u8fde\u4f53\u590d\u5408\u4f53\u5931\u5e38\uff0c\u8fdb\u800c\u5f71\u54cd\u7ec6\u80de\u5206\u88c2\uff0c\u5bfc\u81f4\u67d3\u8272\u4f53\u4e0d\u7a33\u5b9a\u3002\u7ed3\u679c\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7ec6\u80de\u5206\u88c2\u4e0d\u6b63\u5e38\uff0c\u5f71\u54cd\u751f\u957f\u548c\u53d1\u80b2<br><\/li>\n\n\n\n<li>\u67d3\u8272\u4f53\u5f02\u5e38\u66f4\u5bb9\u6613\u53d1\u751f\uff08\u5f02\u5e38\u6570\u76ee\uff09<br><\/li>\n\n\n\n<li>\u7ec6\u80de\u5bb9\u6613\u53d1\u751f\u65e9\u671f\u6b7b\u4ea1\uff08\u51cb\u4ea1\uff09<br><\/li>\n<\/ul>\n\n\n\n<p>\u7f57\u4f2f\u8328\u7efc\u5408\u75c7\u4e0e\u201c\u6c99\u5229\u5ea6\u80fa\u80da\u80ce\u75c7\u201d\uff08thalidomide embryopathy\uff0cTE\uff09\u8868\u73b0\u5f97\u975e\u5e38\u76f8\u4f3c\u3002\u6c99\u5229\u5ea6\u80fa\u66fe\u662f\u6cbb\u7597\u5b55\u671f\u6076\u5fc3\u7684\u836f\u7269\uff0c\u4f46\u5b83\u5bf9\u80ce\u513f\u4ea7\u751f\u4e25\u91cd\u5f71\u54cd\u3002<\/p>\n\n\n\n<p>\u7531\u4e8e\u75c7\u72b6\u7684\u76f8\u4f3c\u6027\uff0cTE\u6709\u65f6\u88ab\u79f0\u4e3a\u201c\u4f2a\u7f57\u4f2f\u8328\u7efc\u5408\u75c7\u201d\u3002\u8fd1\u671f\u7814\u7a76\u53d1\u73b0\u6c99\u5229\u5ea6\u80fa\u4f1a\u6291\u5236ESCO2\u7684\u529f\u80fd\uff0c\u4ece\u800c\u53ef\u80fd\u89e3\u91ca\u4e86\u4e24\u8005\u75c7\u72b6\u7684\u76f8\u4f3c\u6027\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B5%81%E8%A1%8C%E7%97%85%E5%AD%A6\"><\/span>\u6d41\u884c\u75c5\u5b66<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>&nbsp;\u7f57\u4f2f\u8328\u7efc\u5408\u75c7\u662f\u4e00\u79cd\u6781\u4e3a\u7f55\u89c1\u7684\u75be\u75c5\uff0c\u5168\u7403\u533b\u5b66\u6587\u732e\u4e2d\u4ec5\u62a5\u544a\u4e86\u4e0d\u5230150\u4f8b\u3002\u7136\u800c\uff0c\u5b9e\u9645\u4e0a\u53ef\u80fd\u6709\u66f4\u591a\u60a3\u8005\u3002\u539f\u56e0\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8bca\u65ad\u56f0\u96be<br><\/li>\n\n\n\n<li>\u75c7\u72b6\u8868\u73b0\u5dee\u5f02\u5927\uff0c\u4e14\u201c\u975e\u5178\u578b\u201d\u75c5\u4f8b\u5bb9\u6613\u88ab\u5ffd\u89c6<br><\/li>\n\n\n\n<li>\u4e0e\u5176\u4ed6\u7c7b\u4f3c\u75be\u75c5\uff08\u5982\u30b8\u30e5\u30d0\u30fc\u30b0-\u30d8\u30a4\u30ef\u30fc\u30c9\u75c7\u5019\u7fa4\uff09\u96be\u4ee5\u533a\u5206<br><\/li>\n<\/ul>\n\n\n\n<p>\u6b64\u75c5\u53ef\u4ee5\u5f71\u54cd\u4efb\u4f55\u6027\u522b\u6216\u79cd\u65cf\u7684\u4e2a\u4f53\uff0c\u4f46\u5728\u8fd1\u4eb2\u7ed3\u5a5a\u7684\u5bb6\u5ead\u4e2d\u66f4\u4e3a\u5e38\u89c1\u3002\u6b64\u5916\uff0c\u7531\u4e8e\u521b\u59cb\u4eba\u6548\u5e94\uff0c\u67d0\u4e9b\u5730\u533a\u7684\u7279\u5b9a\u7a81\u53d8\u53d1\u751f\u7387\u8f83\u9ad8\u3002\u4f8b\u5982\uff0c\u5728\u54e5\u4f26\u6bd4\u4e9a\u7684\u67d0\u4e9b\u5730\u533a\uff0cc.505C&gt;T\uff08p.Arg169Ter\uff09\u7a81\u53d8\u8f83\u4e3a\u5e38\u89c1\u3002<\/p>\n\n\n\n<p>\u75c5\u56e0 | \u75c5\u56e0<br>\u7f57\u4f2f\u8328\u7efc\u5408\u75c7\u53d1\u751f\u5728ESCO2\u57fa\u56e0\u7684\u4e24\u4efd\u526f\u672c\uff08\u7b49\u4f4d\u57fa\u56e0\uff09\u53d1\u751f\u7a81\u53d8\u65f6\uff08\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20\uff09\u3002\u8be5\u57fa\u56e0\u5728DNA\u590d\u5236\u8fc7\u7a0b\u4e2d\uff0c\u5e2e\u52a9\u67d3\u8272\u4f53\u4e4b\u95f4\u7262\u56fa\u7ed3\u5408\uff0c\u786e\u4fdd\u7ec6\u80de\u5206\u88c2\u987a\u5229\u8fdb\u884c\u3002<\/p>\n\n\n\n<p>\u5f53ESCO2\u529f\u80fd\u5931\u5e38\u65f6\uff0c\u7ec6\u80de\u5206\u88c2\u65f6\u67d3\u8272\u4f53\u4f1a\u6563\u5f00\uff0c\u65e0\u6cd5\u6b63\u5e38\u5206\u914d\u3002\u7ed3\u679c\u4f1a\u51fa\u73b0\u4ee5\u4e0b\u7ec6\u80de\u95ee\u9898\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u65e9\u671f\u7740\u4e1d\u7c92\u5206\u79bb\uff08PCS\uff09<br><\/li>\n\n\n\n<li>\u5f02\u67d3\u8272\u8d28\u6392\u65a5\uff08HR\uff09<br><\/li>\n\n\n\n<li>\u67d3\u8272\u4f53\u4e0d\u7a33\u5b9a<br><\/li>\n\n\n\n<li>\u5f02\u5e38\u6570\u76ee\uff08\u8fc7\u591a\u6216\u7f3a\u5931\u67d3\u8272\u4f53\uff09<br><\/li>\n\n\n\n<li>\u7ec6\u80de\u5bb9\u6613\u53d1\u751f\u65e9\u671f\u6b7b\u4ea1\uff08\u51cb\u4ea1\uff09<br><\/li>\n<\/ul>\n\n\n\n<p>ESCO2\u57fa\u56e0\u7684\u53d8\u5f02\u7c7b\u578b\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u65e0\u4e49\u7a81\u53d8\uff08\u63d0\u524d\u505c\u6b62\u86cb\u767d\u8d28\u5408\u6210\uff09<br><\/li>\n\n\n\n<li>\u79fb\u7801\u7a81\u53d8\uff08\u5bfc\u81f4\u86cb\u767d\u8d28\u53d1\u751f\u5b8c\u5168\u53d8\u5316\uff09<br><\/li>\n\n\n\n<li>\u526a\u63a5\u4f4d\u70b9\u7a81\u53d8\uff08\u5f71\u54cd\u57fa\u56e0\u526a\u63a5\uff09<br><\/li>\n<\/ul>\n\n\n\n<p>\u67d0\u4e9b\u7a81\u53d8\uff08\u4f8b\u5982p.Arg552Ter\uff09\u53ef\u80fd\u5bfc\u81f4\u86cb\u767d\u8d28\u90e8\u5206\u529f\u80fd\u4e27\u5931\uff0c\u4ece\u800c\u51cf\u8f7b\u75c7\u72b6\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6\"><\/span>\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\uff08Roberts syndrome\uff09\u306f\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u75c5\u6c17\u3067\u3042\u308a\u3001\u3053\u308c\u307e\u3067\u306b\u4e16\u754c\u4e2d\u3067150\u4f8b\u672a\u6e80\u3057\u304b\u533b\u5b66\u6587\u732e\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u305f\u3060\u3057\u3001\u5b9f\u969b\u306b\u306f\u305d\u308c\u4ee5\u4e0a\u306e\u60a3\u8005\u3055\u3093\u304c\u5b58\u5728\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u7406\u7531\u3068\u3057\u3066\u306f\u3001\u6b21\u306e\u3088\u3046\u306a\u80cc\u666f\u304c\u3042\u308b\u305f\u3081\u3067\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u304c\u96e3\u3057\u3044\u3053\u3068<\/li>\n\n\n\n<li>\u75c7\u72b6\u306e\u51fa\u65b9\u306b\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u300c\u5178\u578b\u7684\u3067\u306f\u306a\u3044\u300d\u30b1\u30fc\u30b9\u304c\u898b\u9003\u3055\u308c\u3084\u3059\u3044\u3053\u3068<\/li>\n\n\n\n<li>\u985e\u4f3c\u75be\u60a3\u3068\u306e\u533a\u5225\u304c\u3064\u304d\u306b\u304f\u3044\u3053\u3068\uff08\u4f8b\uff1a\u30b8\u30e5\u30d0\u30fc\u30b0\uff1d\u30d8\u30a4\u30ef\u30fc\u30c9\u75c7\u5019\u7fa4\u306a\u3069\uff09<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u3084\u4eba\u7a2e\u306b\u95a2\u4fc2\u306a\u304f\u767a\u75c7\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u4e21\u89aa\u304c\u8fd1\u3044\u89aa\u621a\u540c\u58eb\uff08\u8840\u7e01\u5a5a\uff09\u3067\u3042\u308b\u5bb6\u65cf\u3067\u3088\u308a\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u5730\u57df\u7684\u306b\u7279\u5b9a\u306e\u5909\u7570\u304c\u591a\u304f\u898b\u3089\u308c\u308b\u3053\u3068\uff08\u5275\u59cb\u8005\u52b9\u679c\uff09\u3082\u3042\u308a\u307e\u3059\u3002\u305f\u3068\u3048\u3070\u3001\u5357\u7c73\u30b3\u30ed\u30f3\u30d3\u30a2\u3067\u306f\u3001c.505C&gt;T\uff08p.Arg169Ter\uff09\u3068\u3044\u3046\u7279\u5b9a\u306e\u5909\u7570\u304c\u4e00\u90e8\u306e\u5730\u57df\u3067\u3088\u304f\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0_Etiology\"><\/span>\u75c5\u56e0 | Etiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>&nbsp;\u7f57\u4f2f\u8328\u7efc\u5408\u75c7\u7684\u75c7\u72b6\u4ece\u51fa\u751f\u524d\u5c31\u5f00\u59cb\u663e\u73b0\uff0c\u51fa\u751f\u65f6\u901a\u5e38\u53ef\u4ee5\u89c2\u5bdf\u5230\u660e\u663e\u7684\u8eab\u4f53\u7279\u5f81\u3002\u7136\u800c\uff0c\u75c7\u72b6\u7684\u8868\u73b0\u7a0b\u5ea6\u5dee\u5f02\u5f88\u5927\uff0c\u91cd\u75c7\u75c5\u4f8b\u53ef\u80fd\u5bfc\u81f4\u65e9\u671f\u6b7b\u4ea1\uff0c\u800c\u8f7b\u5ea6\u75c5\u4f8b\u5219\u53ef\u80fd\u6d3b\u5230\u6210\u5e74\u3002<\/p>\n\n\n\n<p>\u4ee5\u4e0b\u662f\u6309\u5668\u5b98\u548c\u8eab\u4f53\u90e8\u4f4d\u5206\u7c7b\u7684\u5e38\u89c1\u75c7\u72b6\uff1a<\/p>\n\n\n\n<p>\u751f\u957f\uff08Growth\uff09<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u80ce\u513f\u671f\u751f\u957f\u8fdf\u7f13\uff08\u80ce\u5185\u53d1\u80b2\u8fdf\u7f13\uff09\uff0c\u51fa\u751f\u65f6\u4f53\u91cd\u548c\u8eab\u9ad8\u660e\u663e\u8f83\u5c0f\uff0c\u51fa\u751f\u540e\u751f\u957f\u901f\u5ea6\u8f83\u6162\uff0c\u4f53\u578b\u8f83\u5c0f\u3002<br><\/li>\n<\/ul>\n\n\n\n<p>\u56db\u80a2\uff08Limbs\uff09<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6700\u8457\u540d\u7684\u7279\u5f81\u662f\u56db\u80a2\u5bf9\u79f0\u6027\u77ed\u5c0f\u6216\u7f3a\u5931\uff0c\u5c24\u5176\u662f\u81c2\u90e8\u548c\u817f\u90e8\u7684\u4e2d\u6bb5\u77ed\u5c0f\uff08\u4e2d\u8282\u9aa8\u77ed\u7f29\uff09<br><\/li>\n\n\n\n<li>\u56db\u80a2\u7f3a\u5931\uff08\u56db\u80a2\u5168\u7f3a\uff09\u6216\u6781\u5ea6\u77ed\u5c0f<br><\/li>\n\n\n\n<li>\u62c7\u6307\u53d1\u80b2\u4e0d\u826f\u6216\u7f3a\u5931\uff08\u62c7\u6307\u4f4e\u5f62\u6210\uff0f\u65e0\u5f62\u6210\uff09<br><\/li>\n\n\n\n<li>\u6307\u5934\u6570\u91cf\u51cf\u5c11\uff08\u5c11\u6307\u75c7\uff09<br><\/li>\n\n\n\n<li>\u5c0f\u6307\u5f2f\u66f2\uff08\u5c0f\u6307\u5f2f\u66f2\u75c7\uff09<br><\/li>\n\n\n\n<li>\u5173\u8282\u50f5\u786c\uff0c\u8098\u90e8\u3001\u819d\u90e8\u3001\u624b\u8155\u548c\u811a\u8e1d\u96be\u4ee5\u5f2f\u66f2\uff08\u5173\u8282\u631b\u7f29\uff09<br><\/li>\n\n\n\n<li>\u8db3\u90e8\u5185\u7ffb\uff08\u5185\u53cd\u8db3\uff09<br><\/li>\n<\/ul>\n\n\n\n<p>\u9762\u90e8\u7279\u5f81\uff08Craniofacial\uff09<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5507\u816d\u88c2<br><\/li>\n\n\n\n<li>\u5c0f\u5934\u75c7\uff08\u5c0f\u5934\uff09\u548c\u5c0f\u4e0b\u5df4\uff08\u5c0f\u988f\u75c7\uff09<br><\/li>\n\n\n\n<li>\u9762\u90e8\u98a7\u9aa8\u4f4e\u5e73<br><\/li>\n\n\n\n<li>\u9f3b\u5b50\u5448\u5c16\u5f62\u6216\u5c0f\u9f3b\u7ffc\u4e0d\u53d1\u80b2<br><\/li>\n\n\n\n<li>\u773c\u89d2\u4e0b\u5782<br><\/li>\n\n\n\n<li>\u773c\u775b\u95f4\u8ddd\u589e\u5927\uff08\u773c\u95f4\u8ddd\u6269\u5927\uff09\u6216\u773c\u7403\u7a81\u51fa<br><\/li>\n\n\n\n<li>\u5c0f\u8033\u6735\u3001\u8033\u6735\u4f4d\u7f6e\u4f4e\u6216\u8033\u6735\u671d\u540e<br><\/li>\n<\/ul>\n\n\n\n<p>\u8fd9\u4e9b\u7279\u5f81\u56e0\u4e2a\u4f53\u800c\u5f02\uff0c\u5e76\u975e\u6240\u6709\u60a3\u8005\u90fd\u4f1a\u51fa\u73b0\u8fd9\u4e9b\u75c7\u72b6\u3002<\/p>\n\n\n\n<p>\u795e\u7ecf\u7cfb\u7edf\uff08Neurological\uff09<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u667a\u529b\u53d1\u80b2\u8fdf\u7f13\uff08\u667a\u529b\u969c\u788d\uff09\u4ece\u8f7b\u5ea6\u5230\u91cd\u5ea6\u4e0d\u7b49\uff0c\u6709\u4e9b\u4eba\u667a\u529b\u6b63\u5e38<br><\/li>\n\n\n\n<li>\u8111\u6c34\u80bf\uff08\u8111\u90e8\u79ef\u6db2\uff09\u548c\u8111\u81a8\u51fa<br><\/li>\n\n\n\n<li>\u7f55\u89c1\u7684\u8111\u795e\u7ecf\u9ebb\u75f9\u6216\u9752\u6625\u671f\u53d1\u751f\u7684\u8111\u6897\u585e\uff08\u5982\u7b2c\u4e09\u8111\u795e\u7ecf\u9ebb\u75f9\u548c\u8111\u8840\u7ba1\u72ed\u7a84\uff09<br><\/li>\n<\/ul>\n\n\n\n<p>\u611f\u5b98\u5668\u5b98\u3001\u773c\u775b\u548c\u8033\u6735\uff08Sensory\uff09<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u89d2\u819c\u6df7\u6d4a<br><\/li>\n\n\n\n<li>\u5c0f\u773c\u7403\u75c7<br><\/li>\n\n\n\n<li>\u5148\u5929\u6027\u767d\u5185\u969c\u548c\u773c\u7751\u88c2\u53e3<br><\/li>\n\n\n\n<li>\u542c\u529b\u4e27\u5931<br><\/li>\n<\/ul>\n\n\n\n<p>\u5fc3\u810f\uff08Cardiac\uff09<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5148\u5929\u6027\u5fc3\u810f\u7f3a\u9677\uff0c\u5982\u5ba4\u95f4\u9694\u7f3a\u635f\uff08VSD\uff09\u3001\u623f\u95f4\u9694\u7f3a\u635f\uff08ASD\uff09\u6216\u52a8\u8109\u5bfc\u7ba1\u672a\u95ed\uff08PDA\uff09<br><\/li>\n<\/ul>\n\n\n\n<p>\u6ccc\u5c3f\u751f\u6b96\u5668\uff08Genitourinary\uff09<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u80be\u810f\u5f02\u5e38\uff0c\u5982\u9a6c\u8e44\u80be\u6216\u591a\u56ca\u80be<br><\/li>\n\n\n\n<li>\u7537\u5b69\u5e38\u89c1\u9690\u777e\u75c7\u6216\u5c3f\u9053\u4e0b\u88c2<br><\/li>\n\n\n\n<li>\u5973\u5b69\u5e38\u89c1\u9634\u8482\u80a5\u5927\u6216\u5b50\u5bab\u7578\u5f62<br><\/li>\n<\/ul>\n\n\n\n<p>\u76ae\u80a4\u53ca\u5176\u4ed6\u7279\u5f81\uff08Skin and Other Findings\uff09<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7a00\u758f\u6216\u6d45\u8272\u5934\u53d1<br><\/li>\n\n\n\n<li>\u6bdb\u7ec6\u8840\u7ba1\u7624<br><\/li>\n\n\n\n<li>\u5496\u5561\u725b\u5976\u6591\u548c\u4f4e\u8272\u7d20\u6591\u70b9<br><\/li>\n<\/ul>\n\n\n\n<p>\u68c0\u6d4b\u4e0e\u8bca\u65ad | Testing &amp; Diagnosis<br>\u786e\u8bca\u7f57\u4f2f\u8328\u7efc\u5408\u75c7\u9700\u8981\u9057\u4f20\u5b66\u68c0\u6d4b\u548c\u67d3\u8272\u4f53\u5f62\u6001\u5b66\u68c0\u67e5\u3002<\/p>\n\n\n\n<p>\u5206\u5b50\u9057\u4f20\u5b66\u68c0\u6d4b\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u68c0\u6d4bESCO2\u57fa\u56e0\u662f\u5426\u5b58\u5728\u7a81\u53d8<br><\/li>\n\n\n\n<li>\u91c7\u7528Sanger\u6d4b\u5e8f\u6216\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f\uff08exome sequencing\uff09<br><\/li>\n<\/ul>\n\n\n\n<p>\u67d3\u8272\u4f53\u68c0\u67e5\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u68c0\u6d4b\u7279\u6709\u7684\u201cRS\u6548\u5e94\u201d<br><\/li>\n<\/ul>\n\n\n\n<p>\u4ea7\u524d\u8bca\u65ad\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u901a\u8fc7\u8d85\u58f0\u6ce2\u68c0\u6d4b\u80ce\u513f\u671f\u7684\u5f02\u5e38\u5f81\u8c61\uff0c\u8fdb\u884c\u57fa\u56e0\u68c0\u6d4b\u786e\u8ba4\u8bca\u65ad<br><\/li>\n<\/ul>\n\n\n\n<p>\u6cbb\u7597\u4e0e\u7ba1\u7406 | Treatment &amp; Management<br>\u9057\u61be\u7684\u662f\uff0c\u76ee\u524d\u5c1a\u65e0\u6839\u6cbb\u7f57\u4f2f\u8328\u7efc\u5408\u75c7\u7684\u65b9\u6cd5\u3002\u6cbb\u7597\u4ee5\u75c7\u72b6\u7ba1\u7406\u548c\u8de8\u5b66\u79d1\u652f\u6301\u4e3a\u4e3b\u3002<\/p>\n\n\n\n<p>\u6cbb\u7597\u63aa\u65bd\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5bf9\u53e3\u816d\u88c2\u548c\u9aa8\u9abc\u5f02\u5e38\u8fdb\u884c\u624b\u672f\u4fee\u590d<br><\/li>\n\n\n\n<li>\u7269\u7406\u6cbb\u7597\u3001\u804c\u4e1a\u6cbb\u7597\u3001\u8a00\u8bed\u6cbb\u7597<br><\/li>\n\n\n\n<li>\u773c\u79d1\u548c\u8033\u9f3b\u79d1\u652f\u6301<br><\/li>\n\n\n\n<li>\u5b9a\u671f\u76d1\u6d4b\u5fc3\u810f\u548c\u80be\u810f\u529f\u80fd<br><\/li>\n<\/ul>\n\n\n\n<p>\u9884\u540e | Prognosis<br>\u7f57\u4f2f\u8328\u7efc\u5408\u75c7\u7684\u9884\u540e\u56e0\u4eba\u800c\u5f02\uff0c\u53d6\u51b3\u4e8e\u75c7\u72b6\u7684\u4e25\u91cd\u7a0b\u5ea6\u3001\u5668\u5b98\u7684\u53d7\u7d2f\u60c5\u51b5\u4ee5\u53ca\u83b7\u5f97\u7684\u533b\u7597\u652f\u6301\u3002\u75c7\u72b6\u8f83\u91cd\u7684\u60a3\u8005\u53ef\u80fd\u4f1a\u65e9\u671f\u6b7b\u4ea1\uff0c\u800c\u75c7\u72b6\u8f83\u8f7b\u7684\u60a3\u8005\u53ef\u5728\u9002\u5f53\u652f\u6301\u4e0b\u751f\u6d3b\u5230\u6210\u5e74\u3002<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\"><\/span>\u5f15\u7528\u6587\u732e\uff5cReferences<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1093\/ejo\/cjaa023\">Kantaputra, P. N., Dejkhamron, P., Intachai, W., Ngamphiw, C., Kawasaki, K., Ohazama, A., Krisanaprakornkit, S., Olsen, B., Tongsima, S., &amp; Ketudat Cairns, J. R. (2021). Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2. European journal of orthodontics, 43(1), 45\u201350. https:\/\/doi.org\/10.1093\/ejo\/cjaa023<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/omim.org\/entry\/609353\">Online Mendelian Inheritance in Man (OMIM). (2021, July 9). ESTABLISHMENT OF SISTER CHROMATID COHESION N-ACETYLTRANSFERASE 2; ESCO2 (MIM# 609353). Edited by Bao Lige and mgross. Originally created by Victor A. McKusick on May 4, 2005. Retrieved from https:\/\/omim.org\/entry\/609353<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ejmg.2018.12.013\">Sezer, A., Kayhan, G., Zenker, M., &amp; Percin, E. F. (2019). Hypopigmented patches in Roberts\/SC phocomelia syndrome occur via aneuploidy susceptibility. European journal of medical genetics, 62(12), 103608. https:\/\/doi.org\/10.1016\/j.ejmg.2018.12.013<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkad533\">Fu, J., Zhou, S., Xu, H., Liao, L., Shen, H., Du, P., &amp; Zheng, X. (2023). ATM-ESCO2-SMC3 axis promotes 53BP1 recruitment in response to DNA damage and safeguards genome integrity by stabilizing cohesin complex. Nucleic acids research, 51(14), 7376\u20137391. https:\/\/doi.org\/10.1093\/nar\/gkad533<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1153\/\">Vega H, Gordillo M, Jabs EW. ESCO2 Spectrum Disorder. 2006 Apr 18 [Updated 2020 Mar 26]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1153\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s12885-024-12213-w\">Huang, Y., Chen, D., Bai, Y., Zhang, Y., Zheng, Z., Fu, Q., Yi, B., Jiang, Y., Zhang, Z., &amp; Zhu, J. (2024). ESCO2&#8217;s oncogenic role in human tumors: a pan-cancer analysis and experimental validation. BMC cancer, 24(1), 452. https:\/\/doi.org\/10.1186\/s12885-024-12213-w<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s10577-023-09711-1\">Jevitt, A. M., Rankin, B. D., Chen, J., &amp; Rankin, S. (2023). The cohesin modifier ESCO2 is stable during DNA replication. Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology, 31(1), 6. https:\/\/doi.org\/10.1007\/s10577-023-09711-1<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/pd.6069\">Stevens, Blair K., et al. \u2018Utility of Expanded Carrier Screening in Pregnancies with Ultrasound Abnormalities\u2019. Prenatal Diagnosis, vol. 42, no. 1, Jan. 2022, pp. 60\u201378. DOI.org (Crossref), https:\/\/doi.org\/10.1002\/pd.6069.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41598-019-47739-8\">Gomes, J.d.A., Kowalski, T.W., Fraga, L.R. et al. The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis. Sci Rep 9, 11413 (2019). https:\/\/doi.org\/10.1038\/s41598-019-47739-8<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39460617\/\">Perez G, Barber GP, Benet-Pages A, Casper J, Clawson H, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Nassar LR, Raney BJ, Speir ML, van Baren MJ, Vaske CJ, Haussler D, Kent WJ, Haeussler M. The UCSC Genome Browser database: 2025 update. Nucleic Acids Res. 2025 Jan 6;53(D1):D1243-D1249. doi: 10.1093\/nar\/gkae974. 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