{"id":111812,"date":"2024-11-14T12:04:28","date_gmt":"2024-11-14T03:04:28","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wolf-hirschhorn_syndrome\/"},"modified":"2025-08-22T14:01:24","modified_gmt":"2025-08-22T05:01:24","slug":"wolf-hirschhorn_syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wolf-hirschhorn_syndrome\/?lang=zh-hans","title":{"rendered":"\u72fc-\u8d6b\u5e0c\u970d\u6069\u7efc\u5408\u5f81\uff08Wolf-Hirschhorn\u75c7\u5019\u7fa4\uff09\u2014\u2014\u539f\u56e0\u3001\u75c7\u72b6\u3001\u6cbb\u7597\u3001\u9884\u540e\u4ee5\u53ca\u5bf9\u5bb6\u5ead\u7684\u5f71\u54cd"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><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 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wolf-hirschhorn_syndrome\/?lang=zh-hans\/#%E7%97%85%E5%9B%A0%E5%92%8C%E8%AF%8A%E6%96%AD%E6%96%B9%E6%B3%95\" >\u75c5\u56e0\u548c\u8bca\u65ad\u65b9\u6cd5<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wolf-hirschhorn_syndrome\/?lang=zh-hans\/#%E7%96%BE%E7%97%85%E7%9A%84%E7%97%87%E7%8A%B6%E4%B8%8E%E7%AE%A1%E7%90%86%E6%96%B9%E6%B3%95\" >\u75be\u75c5\u7684\u75c7\u72b6\u4e0e\u7ba1\u7406\u65b9\u6cd5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wolf-hirschhorn_syndrome\/?lang=zh-hans\/#%E5%B0%86%E6%9D%A5%E7%9A%84%E5%B1%95%E6%9C%9B\" >\u5c06\u6765\u7684\u5c55\u671b<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"%E6%9C%AC%E6%96%87%E6%80%BB%E7%BB%93\"><\/span>\u672c\u6587\u603b\u7ed3<span class=\"ez-toc-section-end\"><\/span><\/h2><p>\u6c83\u5c14\u592b\u2013\u5e0c\u5c14\u65bd\u970d\u6069\u7efc\u5408\u5f81\uff08WHS\uff09\u662f\u4e00\u79cd\u7f55\u89c1\u7684\u9057\u4f20\u6027\u75be\u75c5\uff0c\u4f34\u968f\u591a\u79cd\u8eab\u4f53\u548c\u53d1\u80b2\u75c7\u72b6\u3002\u5176\u7279\u70b9\u5305\u62ec\u72ec\u7279\u7684\u9762\u90e8\u7279\u5f81\u3001\u667a\u529b\u969c\u788d\u548c\u766b\u75eb\u53d1\u4f5c\u3002\u7136\u800c\uff0c\u901a\u8fc7\u65e9\u671f\u8bca\u65ad\u548c\u7efc\u5408\u62a4\u7406\uff0c\u53ef\u4ee5\u63d0\u9ad8\u60a3\u8005\u7684\u751f\u6d3b\u8d28\u91cf\u3002\u672c\u6587\u5c06\u4ee5\u901a\u4fd7\u6613\u61c2\u7684\u65b9\u5f0f\u4ecb\u7ecdWHS\u7684\u8be6\u7ec6\u7279\u5f81\u3001\u8bca\u65ad\u53ca\u6cbb\u7597\u65b9\u6cd5\u3002<\/p><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E6%A6%82%E8%A6%81\"><\/span><strong>\u75be\u60a3\u6982\u8981<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"23\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/4p16.3-hgtIdeo_genome_c50f9_b59430-1024x23.png\" alt=\"4p16.3\" class=\"wp-image-88914\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u72fc-\u8d6b\u5e0c\u970d\u6069\u7efc\u5408\u5f81\uff08Wolf-Hirschhorn Syndrome, WHS\uff09\u662f\u4e00\u79cd\u7531\u4e8e4\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff084p\uff09\u7684\u672b\u7aef\u90e8\u5206\u7f3a\u5931\u6240\u5bfc\u81f4\u7684\u7f55\u89c1\u9057\u4f20\u6027\u75be\u75c5\u3002\u8be5\u75be\u75c5\u7684\u7279\u70b9\u662f\u4f34\u968f\u5404\u79cd\u8eab\u4f53\u3001\u53d1\u80b2\u4ee5\u53ca\u795e\u7ecf\u5b66\u7279\u5f81\u3002\u51fa\u751f\u65f6\u7684\u53d1\u75c5\u7387\u4f30\u8ba1\u7ea6\u4e3a\u6bcf20,000\u81f350,000\u4eba\u4e2d\u67091\u4f8b\uff0c\u4e14\u5973\u6027\u60a3\u8005\u7684\u6bd4\u4f8b\u7ea6\u4e3a\u7537\u6027\u76842:1\u3002<\/p>\n\n\n\n<p>WHS\u7684\u4e3b\u8981\u7279\u5f81\u5305\u62ec\u72ec\u7279\u7684\u9762\u90e8\u7279\u5f81\u3001\u667a\u529b\u969c\u788d\u3001\u7cbe\u795e\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\u3001\u51fa\u751f\u540e\u7684\u751f\u957f\u969c\u788d\u3001\u4f4e\u808c\u5f20\u529b\uff08\u808c\u8089\u5f20\u529b\u504f\u4f4e\uff09\uff0c\u4ee5\u53ca\u5404\u79cd\u5148\u5929\u6027\u5f02\u5e38\u3002\u5178\u578b\u7684\u9762\u90e8\u7279\u5f81\u5305\u62ec\u201c\u5e0c\u814a\u6218\u58eb\u5934\u76d4\u201d\u6837\u7684\u5bbd\u800c\u5e73\u7684\u9f3b\u6881\u3001\u4e24\u773c\u95f4\u8ddd\u8f83\u5bbd\uff08\u773c\u8ddd\u589e\u5bbd\uff09\u3001\u5c0f\u4e0b\u988c\uff08\u4e0b\u988c\u53d1\u80b2\u4e0d\u8db3\uff09\u3001\u8033\u6735\u4f4d\u7f6e\u504f\u4f4e\u7b49\u3002\u4e00\u90e8\u5206\u75c5\u4f8b\u8fd8\u4f1a\u51fa\u73b0\u51fa\u751f\u524d\u7684\u751f\u957f\u8fdf\u7f13\uff0c\u4f46\u51fa\u751f\u540e\u7684\u751f\u957f\u969c\u788d\u51e0\u4e4e\u603b\u662f\u5b58\u5728\u3002<\/p>\n\n\n\n<p>\u795e\u7ecf\u5b66\u548c\u53d1\u80b2\u95ee\u9898\u663e\u8457\u3002\u667a\u529b\u969c\u788d\u7684\u7a0b\u5ea6\u4ece\u4e2d\u5ea6\u5230\u91cd\u5ea6\u4e0d\u7b49\uff0c\u7cbe\u795e\u8fd0\u52a8\u53d1\u80b2\uff08\u5982\u884c\u8d70\u6216\u8bed\u8a00\u80fd\u529b\uff09\u660e\u663e\u843d\u540e\u3002\u766b\u75eb\u53d1\u4f5c\u662f\u5e38\u89c1\u7684\u5e76\u53d1\u75c7\uff0c\u901a\u5e38\u5728\u5e7c\u513f\u671f\u5f00\u59cb\uff0c\u4e14\u6709\u65f6\u96be\u4ee5\u63a7\u5236\u3002\u6b64\u5916\uff0c\u8111\u90e8\u7ed3\u6784\u5f02\u5e38\u4e5f\u7ecf\u5e38\u88ab\u62a5\u544a\u3002<\/p>\n\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31295073_s.jpg\" alt=\"\u304a\u3066\u3066\" class=\"wp-image-87378\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u5176\u4ed6\u4e0eWHS\u76f8\u5173\u7684\u533b\u5b66\u95ee\u9898\u5305\u62ec\u5fc3\u810f\u7f3a\u9677\u3001\u80be\u810f\u5f02\u5e38\u4ee5\u53ca\u514d\u75ab\u7f3a\u9677\u3002\u514d\u75ab\u7f3a\u9677\u4f1a\u5bfc\u81f4\u611f\u67d3\u98ce\u9669\u5347\u9ad8\u3002\u4f4e\u808c\u5f20\u529b\u4f1a\u5f15\u8d77\u5582\u517b\u56f0\u96be\u3001\u8fd0\u52a8\u6280\u80fd\u53d1\u80b2\u8fdf\u7f13\u4ee5\u53ca\u6574\u4f53\u4f53\u529b\u4e0d\u8db3\u3002<\/p>\n\n\n\n<p>WHS\u7684\u7ba1\u7406\u9700\u8981\u591a\u5b66\u79d1\u8054\u5408\u7684\u4e2a\u4f53\u5316\u5e72\u9884\u3002\u65e9\u671f\u4ecb\u5165\u5982\u7269\u7406\u6cbb\u7597\u3001\u4f5c\u4e1a\u6cbb\u7597\u3001\u8bed\u8a00\u6cbb\u7597\uff0c\u53ef\u4ee5\u663e\u8457\u63d0\u5347\u53d1\u80b2\u6548\u679c\u3002\u4e3a\u4e86\u7ba1\u7406\u766b\u75eb\u53d1\u4f5c\u3001\u5fc3\u810f\u6216\u80be\u810f\u95ee\u9898\u4ee5\u53ca\u5176\u4ed6\u6f5c\u5728\u7684\u5e76\u53d1\u75c7\uff0c\u9700\u8981\u4e13\u4e1a\u533b\u751f\u7684\u5b9a\u671f\u76d1\u6d4b\u3002\u5bf9\u4e8e\u5bb6\u5ead\uff0c\u9057\u4f20\u54a8\u8be2\u53ef\u4ee5\u5e2e\u52a9\u7406\u89e3\u8fd9\u79cd\u75be\u75c5\u5e76\u638c\u63e1\u672a\u6765\u598a\u5a20\u7684\u590d\u53d1\u98ce\u9669\u3002\u6b64\u5916\uff0c\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u6d4b\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09\u662f\u4e00\u79cd\u53ef\u9760\u4e14\u5b89\u5168\u7684\u7b5b\u67e5\u65b9\u6cd5\uff0c\u503c\u5f97\u63a8\u8350\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/roberts-syndrome-esco2-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\uff08ESCO2\u95a2\u9023\u30b3\u30d2\u30fc\u30b7\u30ce\u30d1\u30c1\u30fc\uff09\u3010ESCO2\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u624b\u8db3\u306e\u77ed\u7e2e\u3084\u6210\u9577\u306e\u9045\u308c\u3092\u7279\u5fb4\u3068\u3059\u308b\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u3002\u539f\u56e0\u3068\u306a\u308bESCO2\u907a\u4f1d\u5b50\u3084\u8a3a\u65ad\u30fb\u6cbb\u7642\u306e\u30dd\u30a4\u30f3\u30c8\u3092\u3084\u3055\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0%E5%92%8C%E8%AF%8A%E6%96%AD%E6%96%B9%E6%B3%95\"><\/span><strong>\u75c5\u56e0\u548c\u8bca\u65ad\u65b9\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u72fc-\u8d6b\u5e0c\u970d\u6069\u7efc\u5408\u5f81\uff08Wolf-Hirschhorn Syndrome, WHS\uff09\u662f\u7531\u4e8e4\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff084p16.3\uff09\u533a\u57df\u7684\u7f3a\u5931\u6240\u5bfc\u81f4\u7684\u7f55\u89c1\u9057\u4f20\u6027\u75be\u75c5\u3002\u8fd9\u79cd\u7f3a\u5931\u5bfc\u81f4\u9057\u4f20\u7269\u8d28\u7684\u4e22\u5931\uff0c\u7f3a\u5931\u5927\u5c0f\u56e0\u4e2a\u4f53\u800c\u5f02\u3002\u7f3a\u5931\u7247\u6bb5\u7684\u5927\u5c0f\u548c\u4f4d\u7f6e\u4e0d\u540c\u4f1a\u5f71\u54cd\u75c7\u72b6\u7684\u4e25\u91cd\u7a0b\u5ea6\u548c\u8303\u56f4\uff0c\u56e0\u6b64WHS\u662f\u4e00\u79cd\u8868\u73b0\u975e\u5e38\u591a\u6837\u7684\u75be\u75c5\u3002\u6b64\u5916\uff0cWHS\u88ab\u5f52\u7c7b\u4e3a\u201c\u8fde\u7eed\u57fa\u56e0\u7efc\u5408\u5f81\u201d\uff0c\u610f\u5473\u7740\u67d3\u8272\u4f53\u533a\u57df\u4e2d\u591a\u4e2a\u76f8\u90bb\u57fa\u56e0\u540c\u65f6\u53d7\u5f71\u54cd\u3002<\/p>\n\n\n\n<p>\u4e0eWHS\u76f8\u5173\u7684\u91cd\u8981\u9057\u4f20\u533a\u57df\u79f0\u4e3aWHS\u5173\u952e\u533a\u57df1\u548c2\uff08WHSCR1\u3001WHSCR2\uff09\u3002\u8fd9\u4e9b\u533a\u57df\u4f4d\u4e8e4p16.3\u7684\u672b\u7aef\uff0c\u957f\u5ea6\u7ea6\u4e3a1.5~1.6\u5146\u78b1\u57fa\uff08Mb\uff09\uff0c\u88ab\u8ba4\u4e3a\u662f\u5bfc\u81f4\u53d1\u80b2\u8fdf\u7f13\u548c\u5178\u578b\u9762\u90e8\u7279\u5f81\u7b49WHS\u6838\u5fc3\u4e34\u5e8a\u8868\u73b0\u7684\u539f\u56e0\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"517\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chr4-MddVZDYGTWBIODSVLEAAADMJ.png\" alt=\"chr4\" class=\"wp-image-88920\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u5927\u591a\u6570WHS\u75c5\u4f8b\u6e90\u4e8e\u81ea\u7136\u53d1\u751f\uff08de novo\uff09\u7684\u7f3a\u5931\uff0c\u4e0d\u4f1a\u4ece\u7236\u6bcd\u9057\u4f20\u3002\u7136\u800c\uff0c\u5927\u7ea620%\u7684\u75c5\u4f8b\u662f\u7531\u4e8e\u67d3\u8272\u4f53\u91cd\u6392\u5bfc\u81f44p\u7247\u6bb5\u4e22\u5931\u7684\u4e0d\u5e73\u8861\u6613\u4f4d\u5f15\u8d77\u7684\u3002\u8fd9\u7c7b\u6613\u4f4d\u6709\u65f6\u81ea\u7136\u53d1\u751f\uff0c\u6709\u65f6\u5219\u6765\u81ea\u643a\u5e26\u5e73\u8861\u6613\u4f4d\u4f46\u65e0\u75c7\u72b6\u7684\u7236\u6bcd\u3002WHS\u5e38\u89c1\u7684\u67d3\u8272\u4f53\u91cd\u6392\u5305\u62ec4p\u4e0e8p\u30017p\u300111p\u300120q\u300121q\u300112p\u7b49\u7684\u91cd\u7ec4\u3002\u6b64\u5916\uff0c\u73af\u72b6\u67d3\u8272\u4f53\u6216\u4f34\u968f4p\u672b\u7aef\u7f3a\u5931\u7684\u5012\u4f4d\u91cd\u590d\u7b49\u590d\u6742\u67d3\u8272\u4f53\u5f02\u5e38\uff0c\u4e5f\u53ef\u80fd\u5f15\u53d1WHS\u3002<\/p>\n\n\n\n<p>4p\u7f3a\u5931\u8303\u56f4\u4ece\u5c0f\u4e8e2 Mb\u5230\u8d85\u8fc730 Mb\u4e0d\u7b49\uff0c\u8fd9\u79cd\u5dee\u5f02\u5bf9\u4e34\u5e8a\u8868\u73b0\u6709\u5f88\u5927\u5f71\u54cd\u3002\u6839\u636e\u7f3a\u5931\u5927\u5c0f\uff0cWHS\u7684\u8868\u578b\u53ef\u5206\u4e3a\u4ee5\u4e0b\u4e09\u7c7b\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u7f3a\u5931\uff083.5 Mb\u4ee5\u4e0b\uff09<\/strong>\uff1a\u901a\u5e38\u8868\u73b0\u4e3a\u8f7b\u5ea6\u75c7\u72b6\uff0c\u5305\u62ec\u5178\u578b\u9762\u5bb9\u3001\u751f\u957f\u8fdf\u7f13\u3001\u8f7b\u5ea6\u667a\u529b\u969c\u788d\u4ee5\u53ca\u766b\u75eb\u53d1\u4f5c\u3002<br><\/li>\n\n\n\n<li><strong>\u5927\u7f3a\u5931\uff085~18 Mb\uff09<\/strong>\uff1a\u6700\u5e38\u89c1\u7684\u7c7b\u578b\uff0c\u4f34\u968f\u4f4e\u808c\u5f20\u529b\u3001\u663e\u8457\u7684\u795e\u7ecf\u53d1\u80b2\u969c\u788d\u3001\u4e25\u91cd\u7684\u751f\u957f\u8fdf\u7f13\uff0c\u4ee5\u53ca\u5c0f\u7f3a\u5931\u60a3\u8005\u7684\u5e38\u89c1\u75c7\u72b6\u4e4b\u5916\u7684\u5176\u4ed6\u5148\u5929\u6027\u5f02\u5e38\u3002<br><\/li>\n\n\n\n<li><strong>\u6781\u5927\u7f3a\u5931\uff0822~25 Mb\u4ee5\u4e0a\uff09<\/strong>\uff1a\u8868\u73b0\u6700\u4e25\u91cd\uff0c\u4f34\u968f\u5e7f\u6cdb\u7578\u5f62\uff0c\u6709\u65f6\u96be\u4ee5\u76f4\u63a5\u8bc6\u522b\u4e3aWHS\u3002<br><\/li>\n<\/ul>\n\n\n\n<p>\u5f53\u7f3a\u5931\u8303\u56f4\u8d85\u8fc73~5 Mb\u65f6\uff0c\u51fa\u73b0\u5fc3\u810f\u75c5\u3001\u816d\u88c2\u7b49\u989d\u5916\u5148\u5929\u6027\u5f02\u5e38\u7684\u98ce\u9669\u66f4\u9ad8\u3002\u56e0\u6b64\uff0c\u901a\u8fc7\u57fa\u56e0\u68c0\u6d4b\u660e\u786e\u7f3a\u5931\u7684\u5927\u5c0f\u548c\u5185\u5bb9\u5bf9\u4e8e\u9884\u6d4b\u75be\u75c5\u4e25\u91cd\u7a0b\u5ea6\u548c\u5236\u5b9a\u533b\u7597\u7ba1\u7406\u8ba1\u5212\u81f3\u5173\u91cd\u8981\u3002<\/p>\n\n\n\n<p>WHS\u662f\u4e00\u79cd\u590d\u6742\u75be\u75c5\uff0c\u9700\u8981\u9488\u5bf9\u4e2a\u4f53\u75c7\u72b6\u548c\u9700\u6c42\u8fdb\u884c\u591a\u5b66\u79d1\u56e2\u961f\u7684\u7efc\u5408\u7ba1\u7406\u3002\u7279\u522b\u662f\u5f53\u6d89\u53ca\u67d3\u8272\u4f53\u6613\u4f4d\u65f6\uff0c\u9057\u4f20\u54a8\u8be2\u5e2e\u52a9\u5bb6\u5ead\u7406\u89e3\u75be\u75c5\uff0c\u5e76\u8bc4\u4f30\u672a\u6765\u598a\u5a20\u7684\u98ce\u9669\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u72fc-\u8d6b\u5e0c\u970d\u6069\u7efc\u5408\u5f81\uff08Wolf-Hirschhorn Syndrome, WHS\uff09\u7684\u8bca\u65ad\u4f9d\u8d56\u4e34\u5e8a\u8bc4\u4f30\u3001\u57fa\u56e0\u68c0\u6d4b\uff0c\u4ee5\u53ca\u90e8\u5206\u60c5\u51b5\u4e0b\u7684\u4ea7\u524d\u7b5b\u67e5\u3002\u8fd9\u79cd\u75be\u75c5\u4e3b\u8981\u75314\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff084p16.3\uff09\u7684\u7f3a\u5931\u5f15\u8d77\u3002\u5927\u591a\u6570\u75c5\u4f8b\u662f\u81ea\u7136\u53d1\u751f\u7684\uff08sporadic\uff09\uff0c\u5e76\u975e\u9057\u4f20\u6027\u3002\u4f46\u90e8\u5206\u75c5\u4f8b\u6e90\u4e8e\u7236\u6bcd\u643a\u5e26\u7684\u5e73\u8861\u6613\u4f4d\uff0c\u9057\u4f20\u7ed9\u5b50\u4ee3\u5f62\u6210\u4e0d\u5e73\u8861\u6613\u4f4d\u3002\u5982\u679c\u5bb6\u5ead\u4e2d\u5df2\u786e\u5b9a4p16.3\u7684\u91cd\u6392\uff0c\u672a\u6765\u598a\u5a20\u65f6\u53ef\u4ee5\u901a\u8fc7\u643a\u5e26\u8005\u7b5b\u67e5\u8fdb\u884c\u6709\u9488\u5bf9\u6027\u7684\u68c0\u6d4b\u3002<\/p>\n\n\n\n<p>\u5bf9\u4e8e\u5df2\u77e5\u5bb6\u65cf\u4e2d\u5b58\u57284p16.3\u91cd\u6392\u7684\u60c5\u51b5\uff0c\u4ea7\u524d\u8bca\u65ad\u5c24\u5176\u6709\u52a9\u4e8e\u51cf\u8f7b\u7126\u8651\u5e76\u4e3a\u598a\u5a20\u505a\u597d\u51c6\u5907\u3002\u968f\u7740DNA\u6d4b\u5e8f\u6280\u672f\u7684\u8fdb\u6b65\uff0c\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u6d4b\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09\u5df2\u6210\u4e3a\u4e00\u79cd\u5b89\u5168\u3001\u53ef\u9760\u7684\u7b5b\u67e5\u65b9\u6cd5\u3002NIPT\u901a\u8fc7\u68c0\u6d4b\u6bcd\u4f53\u8840\u6db2\u4e2d\u7684\u80ce\u513fDNA\u6765\u5206\u6790\u9057\u4f20\u5f02\u5e38\uff0c\u4e0d\u4f1a\u5bf9\u6bcd\u4f53\u6216\u80ce\u513f\u5e26\u6765\u98ce\u9669\u3002\u5f53\u68c0\u6d4b\u7ed3\u679c\u663e\u793a\u5f02\u5e38\u65f6\uff0c\u5efa\u8bae\u8fdb\u884c\u7f8a\u6c34\u7a7f\u523a\u7b49\u8fdb\u4e00\u6b65\u8bca\u65ad\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31295071_s.jpg\" alt=\"\u304a\u3066\u3066\u3092\u63e1\u308d\u3046\" class=\"wp-image-88556\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u5bf9\u4e8e\u5a74\u5e7c\u513f\u548c\u513f\u7ae5\uff0c\u8bca\u65ad\u901a\u5e38\u901a\u8fc7\u4f53\u683c\u68c0\u67e5\u4e0e\u57fa\u56e0\u68c0\u6d4b\u7ed3\u5408\u8fdb\u884c\u3002WHS\u7684\u5178\u578b\u4e34\u5e8a\u8868\u73b0\uff0c\u5982\u9762\u90e8\u7578\u5f62\u3001\u751f\u957f\u8fdf\u7f13\u548c\u53d1\u80b2\u5f02\u5e38\uff0c\u5f80\u5f80\u662f\u65e9\u671f\u8bca\u65ad\u7684\u7ebf\u7d22\u3002\u786e\u8bca\u5219\u9700\u8981\u5206\u5b50\u9057\u4f20\u5b66\u6216\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790\u3002\u76ee\u524d\u6700\u5e38\u7528\u7684\u8bca\u65ad\u65b9\u6cd5\u5305\u62ec\u8367\u5149\u539f\u4f4d\u6742\u4ea4\uff08FISH\uff09\u548c\u5168\u57fa\u56e0\u7ec4\u67d3\u8272\u4f53\u5fae\u9635\u5217\u5206\u6790\uff08CMA\uff09\u3002\u8fd9\u4e9b\u6280\u672f\u80fd\u591f\u7cbe\u786e\u8bc6\u522b\u7f3a\u5931\u7684\u4f4d\u7f6e\u548c\u5927\u5c0f\uff0c\u5e2e\u52a9\u786e\u8bca\u3002<\/p>\n\n\n\n<p>\u6b64\u5916\uff0c\u8111\u7535\u56fe\uff08EEG\uff09\u5e38\u7528\u4e8e\u8bca\u65ad\u8fc7\u7a0b\uff0c\u7ea690%\u7684WHS\u60a3\u8005\u8868\u73b0\u51fa\u7279\u5f81\u6027\u8111\u7535\u56fe\u6a21\u5f0f\uff0c\u8fd9\u4e9b\u6a21\u5f0f\u901a\u5e38\u4e0e\u766b\u75eb\u6d3b\u52a8\u76f8\u5173\u3002\u7531\u4e8eWHS\u4f34\u968f\u591a\u79cd\u75c7\u72b6\uff0c\u5982\u751f\u957f\u969c\u788d\u3001\u667a\u529b\u969c\u788d\u3001\u9762\u90e8\u5f02\u5e38\u7b49\uff0c\u9274\u522b\u8bca\u65ad\u5c24\u4e3a\u91cd\u8981\uff0c\u9700\u8981\u4e0eSeckel\u7efc\u5408\u5f81\u3001CHARGE\u7efc\u5408\u5f81\u3001Smith-Lemli-Opitz\u7efc\u5408\u5f81\u3001Opitz G\/BBB\u7efc\u5408\u5f81\u3001Williams\u7efc\u5408\u5f81\u3001Rett\u7efc\u5408\u5f81\u3001Angelman\u7efc\u5408\u5f81\u3001Smith-Magenis\u7efc\u5408\u5f81\u7b49\u8fdb\u884c\u533a\u5206\u3002\u9776\u5411\u57fa\u56e0\u7ec4\u5206\u6790\u5728\u8fd9\u79cd\u9274\u522b\u8fc7\u7a0b\u4e2d\u975e\u5e38\u6709\u5e2e\u52a9\u3002<\/p>\n\n\n\n<p>\u7cbe\u51c6\u7684\u8bca\u65ad\u4e0d\u4ec5\u53ef\u4ee5\u786e\u4fdd\u60a3\u8005\u83b7\u5f97\u9002\u5f53\u7684\u533b\u7597\u7167\u62a4\uff0c\u8fd8\u80fd\u5e2e\u52a9\u5bb6\u5ead\u901a\u8fc7\u9057\u4f20\u54a8\u8be2\u8fdb\u4e00\u6b65\u4e86\u89e3\u75be\u75c5\u3002<\/p>\n\n\n\n<div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/smith-lemli-opitz-dhcr7-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\u3010DHCR7\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\uff08SLOS\uff09\u306e\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u6cbb\u7642\u30fb\u691c\u67fb\u65b9\u6cd5\u3092\u308f\u304b\u308a\u3084\u3059\u304f\u89e3\u8aac\u3002\u4fdd\u8b77\u8005\u5411\u3051\u306e\u5b89\u5fc3\u3067\u304d\u308b\u60c5\u5831\u63d0\u4f9b\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n\n\n\n<div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E7%97%85%E7%9A%84%E7%97%87%E7%8A%B6%E4%B8%8E%E7%AE%A1%E7%90%86%E6%96%B9%E6%B3%95\"><\/span><strong>\u75be\u75c5\u7684\u75c7\u72b6\u4e0e\u7ba1\u7406\u65b9\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u72fc-\u8d6b\u5e0c\u970d\u6069\u7efc\u5408\u5f81\uff08Wolf-Hirschhorn syndrome, WHS\uff09\u662f\u7531\u4e8e4\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff084p16.3\uff09\u90e8\u5206\u7f3a\u5931\u6240\u5f15\u8d77\u7684\u7f55\u89c1\u9057\u4f20\u6027\u75be\u75c5\u3002\u8be5\u75be\u75c5\u7684\u75c7\u72b6\u4f1a\u56e0\u7f3a\u5931\u533a\u57df\u7684\u5927\u5c0f\u548c\u4f4d\u7f6e\u800c\u6709\u6240\u4e0d\u540c\uff0c\u6d89\u53ca\u8eab\u4f53\u3001\u53d1\u80b2\u4ee5\u53ca\u795e\u7ecf\u5b66\u65b9\u9762\u7684\u5e7f\u6cdb\u95ee\u9898\u3002WHS\u4f1a\u7ed9\u60a3\u8005\u5e26\u6765\u8bf8\u591a\u6311\u6218\uff0c\u5305\u62ec\u751f\u957f\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u72ec\u7279\u7684\u9762\u90e8\u7279\u5f81\u4ee5\u53ca\u5176\u4ed6\u533b\u7597\u5e76\u53d1\u75c7\u3002<\/p>\n\n\n\n<p>WHS\u7684\u4e00\u4e2a\u663e\u8457\u7279\u5f81\u662f\u51fa\u751f\u524d\u548c\u51fa\u751f\u540e\u7684\u751f\u957f\u969c\u788d\u3002\u8fd9\u901a\u5e38\u8868\u73b0\u4e3a\u4f4e\u51fa\u751f\u4f53\u91cd\u4ee5\u53ca\u5a74\u513f\u671f\u4f53\u91cd\u589e\u957f\u7f13\u6162\u3002\u7531\u4e8e\u4f4e\u808c\u5f20\u529b\uff08\u808c\u8089\u7d27\u5f20\u5ea6\u504f\u4f4e\uff09\uff0c\u5582\u517b\u56f0\u96be\u8f83\u4e3a\u5e38\u89c1\uff0c\u5bfc\u81f4\u4f53\u91cd\u548c\u8eab\u9ad8\u589e\u957f\u53d7\u9650\u3002\u8fd9\u79cd\u751f\u957f\u8fdf\u7f13\u5f80\u5f80\u4f1a\u6301\u7eed\u7ec8\u751f\uff0c\u8868\u73b0\u4e3a\u8eab\u6750\u77ee\u5c0f\u4e14\u4f53\u578b\u6d88\u7626\u3002<\/p>\n\n\n\n<p>\u53e6\u4e00\u4e2a\u663e\u8457\u7279\u5f81\u662f\u9762\u90e8\u5f02\u5e38\u3002\u5178\u578b\u7684\u9762\u90e8\u7279\u5f81\u5305\u62ec\u5bbd\u81f3\u989d\u5934\u7684\u9f3b\u6881\uff08\u88ab\u79f0\u4e3a\u201c\u5e0c\u814a\u6218\u58eb\u5934\u76d4\u201d\u5916\u89c2\uff09\u3001\u5c0f\u5934\u7578\u5f62\uff08\u5934\u90e8\u504f\u5c0f\uff09\u3001\u9ad8\u7709\u5f13\u3001\u5bbd\u773c\u8ddd\uff08\u773c\u95f4\u8ddd\u589e\u5bbd\uff09\u3001\u77ed\u4eba\u4e2d\uff08\u9f3b\u5b50\u4e0e\u4e0a\u5507\u95f4\u7684\u6c9f\u69fd\uff09\u3001\u8033\u6735\u7684\u5f62\u6001\u5f02\u5e38\uff08\u5982\u8033\u90e8\u7684\u6c9f\u9677\u6216\u9644\u5c5e\u7269\uff09\u3001\u4e0b\u5782\u7684\u5634\u89d2\u4ee5\u53ca\u5c0f\u4e0b\u988c\u7578\u5f62\u3002\u6709\u4e9b\u60a3\u8005\u8fd8\u4f1a\u51fa\u73b0\u5507\u88c2\u6216\u816d\u88c2\u3002<\/p>\n\n\n\n<p>\u53d1\u80b2\u8fdf\u7f13\u4f1a\u5f71\u54cd\u8fd0\u52a8\u80fd\u529b\u548c\u8ba4\u77e5\u80fd\u529b\u3002\u667a\u529b\u969c\u788d\u901a\u5e38\u4e3a\u4e2d\u5ea6\u5230\u91cd\u5ea6\uff0c\u7cbe\u795e\u8fd0\u52a8\u53d1\u80b2\u660e\u663e\u843d\u540e\u3002\u8bb8\u591a\u513f\u7ae5\u65e0\u6cd5\u8fbe\u5230\u57fa\u672c\u7684\u53d1\u80b2\u91cc\u7a0b\u7891\uff0c\u5982\u72ec\u81ea\u884c\u8d70\u3001\u8fdb\u98df\u6216\u7a7f\u8863\uff0c\u8bed\u8a00\u53d1\u5c55\u4e5f\u6781\u4e3a\u6709\u9650\u3002\u5927\u591a\u6570\u60a3\u8005\u53ea\u80fd\u901a\u8fc7\u5589\u97f3\u6216\u7b80\u5355\u97f3\u8282\u8fdb\u884c\u4ea4\u6d41\uff0c\u80fd\u591f\u8bf4\u51fa\u5b8c\u6574\u53e5\u5b50\u7684\u4e2a\u4f53\u6781\u4e3a\u5c11\u89c1\u3002<\/p>\n\n\n\n<p>\u766b\u75eb\u662fWHS\u6700\u4e25\u91cd\u7684\u795e\u7ecf\u7cfb\u7edf\u5e76\u53d1\u75c7\u4e4b\u4e00\uff0c\u5f71\u54cd\u8d85\u8fc790%\u7684\u60a3\u8005\u3002\u766b\u75eb\u53d1\u4f5c\u901a\u5e38\u57283\u5c81\u524d\u5f00\u59cb\uff0c6\u81f312\u4e2a\u6708\u4e3a\u53d1\u4f5c\u9ad8\u5cf0\u671f\u3002\u6700\u5e38\u89c1\u7684\u7c7b\u578b\u662f\u5168\u9762\u5f3a\u76f4-\u9635\u631b\u6027\u53d1\u4f5c\uff0c\u5176\u6b21\u662f\u5f3a\u76f4\u6027\u53d1\u4f5c\u3001\u4f34\u610f\u8bc6\u969c\u788d\u7684\u5c40\u7076\u6027\u53d1\u4f5c\u4ee5\u53ca\u9635\u631b\u6027\u53d1\u4f5c\u3002\u766b\u75eb\u53d1\u4f5c\u5f80\u5f80\u56e0\u53d1\u70ed\u6216\u611f\u67d3\u8bf1\u53d1\uff0c\u7ea6\u6709\u4e00\u534a\u7684\u513f\u7ae5\u4f1a\u7ecf\u5386\u766b\u75eb\u6301\u7eed\u72b6\u6001\uff08\u957f\u65f6\u95f4\u7684\u53d1\u4f5c\u72b6\u6001\uff09\uff0c\u53ef\u80fd\u5371\u53ca\u751f\u547d\u3002\u7136\u800c\uff0c\u65e9\u671f\u8bca\u65ad\u5e76\u4f7f\u7528\u82ef\u5df4\u6bd4\u59a5\u3001\u4e19\u620a\u9178\u6216\u5de6\u4e59\u62c9\u897f\u5766\u7b49\u836f\u7269\u6cbb\u7597\uff0c\u80fd\u591f\u6709\u6548\u5730\u63a7\u5236\u53d1\u4f5c\u3002<\/p>\n\n\n\n<p>\u5176\u4ed6\u4e0eWHS\u76f8\u5173\u7684\u5e76\u53d1\u75c7\u5305\u62ec\uff1a\u4e2d\u67a2\u795e\u7ecf\u7cfb\u7edf\u7ed3\u6784\u5f02\u5e38\uff0c\u5982\u80fc\u80dd\u4f53\u53d8\u8584\uff1b\u7ea650%\u7684\u60a3\u8005\u6709\u5148\u5929\u6027\u5fc3\u810f\u75c5\uff1b\u9aa8\u9abc\u5f02\u5e38\uff0c\u5982\u810a\u67f1\u4fa7\u5f2f\u6216\u808b\u9aa8\u878d\u5408\uff1b\u53cd\u590d\u7684\u611f\u67d3\uff1b\u89c6\u529b\u548c\u542c\u529b\u95ee\u9898\uff1b\u7259\u9f7f\u6392\u5217\u4e0d\u9f50\uff1b\u4ee5\u53ca\u7537\u6027\u60a3\u8005\u4e2d\u5e38\u89c1\u7684\u6ccc\u5c3f\u751f\u6b96\u5668\u5f02\u5e38\uff0c\u5982\u5c3f\u9053\u4e0b\u88c2\u548c\u9690\u777e\u3002\u5c24\u5176\u662f\u4e0eIgA\u6216IgG2\u4e9a\u578b\u7f3a\u4e4f\u76f8\u5173\u7684\u514d\u75ab\u7f3a\u9677\uff0c\u4f1a\u589e\u52a0\u547c\u5438\u9053\u611f\u67d3\u548c\u6ccc\u5c3f\u9053\u611f\u67d3\u7684\u6613\u611f\u6027\u3002<\/p>\n\n\n\n<p><strong>WHS\u7684\u7ba1\u7406\u9700\u8981\u7efc\u5408\u7684\u3001\u591a\u5b66\u79d1\u56e2\u961f\u7684\u4e2a\u6027\u5316\u5e72\u9884\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u957f\u671f\u968f\u8bbf<\/strong>\uff1a\u7531\u513f\u79d1\u533b\u751f\u901a\u8fc7\u4e13\u7528\u7684\u751f\u957f\u66f2\u7ebf\u56fe\u8fdb\u884c\u751f\u957f\u548c\u53d1\u80b2\u7684\u957f\u671f\u76d1\u6d4b\uff1b<br><\/li>\n\n\n\n<li><strong>\u8425\u517b\u652f\u6301<\/strong>\uff1a\u9488\u5bf9\u5582\u517b\u56f0\u96be\uff0c\u63d0\u4f9b\u8425\u517b\u652f\u6301\u6216\u6cbb\u7597\u80c3\u98df\u7ba1\u53cd\u6d41\u7b49\u5e76\u53d1\u75c7\uff1b<br><\/li>\n\n\n\n<li><strong>\u5668\u5b98\u8bc4\u4f30<\/strong>\uff1a\u65e9\u671f\u8bc4\u4f30\u816d\u88c2\u3001\u5fc3\u810f\u7f3a\u9677\u3001\u89c6\u529b\u548c\u542c\u529b\u95ee\u9898\u3001\u80be\u810f\u6216\u809d\u810f\u529f\u80fd\uff1b<br><\/li>\n\n\n\n<li><strong>\u611f\u67d3\u7ba1\u7406<\/strong>\uff1a\u5bf9\u5c3f\u8def\u611f\u67d3\u6216\u4e2d\u8033\u708e\u7b49\u53cd\u590d\u611f\u67d3\uff0c\u8fdb\u884c\u5feb\u901f\u8bca\u65ad\u548c\u53ca\u65f6\u6cbb\u7597\uff1b<br><\/li>\n\n\n\n<li><strong>\u5eb7\u590d\u6cbb\u7597<\/strong>\uff1a\u7269\u7406\u6cbb\u7597\u3001\u4f5c\u4e1a\u6cbb\u7597\u3001\u8bed\u8a00\u6cbb\u7597\u6709\u52a9\u4e8e\u63d0\u9ad8\u8fd0\u52a8\u6280\u80fd\u3001\u6c9f\u901a\u80fd\u529b\u53ca\u751f\u6d3b\u8d28\u91cf\uff1b<br><\/li>\n\n\n\n<li><strong>\u6559\u80b2\u652f\u6301<\/strong>\uff1a\u8fdb\u884c\u6559\u80b2\u8bc4\u4f30\uff0c\u63d0\u4f9b\u5408\u9002\u7684\u6559\u80b2\u8d44\u6e90\u548c\u4e2a\u522b\u5316\u6559\u5b66\u8ba1\u5212\uff1b<br><\/li>\n\n\n\n<li><strong>\u9057\u4f20\u54a8\u8be2<\/strong>\uff1a\u5e2e\u52a9\u5bb6\u5ead\u7406\u89e3\u9057\u4f20\u6a21\u5f0f\u53ca\u672a\u6765\u598a\u5a20\u7684\u98ce\u9669\u3002<br><\/li>\n<\/ul>\n\n\n\n<p>\u867d\u7136WHS\u4f34\u968f\u8bf8\u591a\u6311\u6218\uff0c\u4f46\u901a\u8fc7\u65e9\u671f\u8bca\u65ad\u548c\u6301\u7eed\u7684\u62a4\u7406\uff0c\u60a3\u8005\u7684\u5065\u5eb7\u72b6\u51b5\u548c\u751f\u6d3b\u8d28\u91cf\u53ef\u4ee5\u5f97\u5230\u663e\u8457\u6539\u5584\u3002\u9002\u5f53\u7684\u533b\u7597\u5e72\u9884\u4e0e\u652f\u6301\u6027\u6cbb\u7597\u80fd\u591f\u663e\u8457\u63d0\u5347\u9884\u540e\u3002<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B0%86%E6%9D%A5%E7%9A%84%E5%B1%95%E6%9C%9B\"><\/span><strong>\u5c06\u6765\u7684\u5c55\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u72fc-\u8d6b\u5e0c\u970d\u6069\u7efc\u5408\u5f81\uff08Wolf-Hirschhorn Syndrome, 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