{"id":111791,"date":"2024-11-14T12:06:38","date_gmt":"2024-11-14T03:06:38","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/"},"modified":"2025-08-22T13:45:50","modified_gmt":"2025-08-22T04:45:50","slug":"williams_beuren","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/?lang=zh-hans","title":{"rendered":"\u5173\u4e8e Williams-Beuren \u7efc\u5408\u5f81\uff08\u5a01\u5ec9\u59c6\u65af\u7efc\u5408\u5f81\uff09"},"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\" 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ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/?lang=zh-hans\/#%E4%B8%B4%E5%BA%8A%E7%97%87%E7%8A%B6%E4%B8%8E%E7%AE%A1%E7%90%86\" >\u4e34\u5e8a\u75c7\u72b6\u4e0e\u7ba1\u7406<\/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\/williams_beuren\/?lang=zh-hans\/#%E9%A2%84%E5%90%8E\" >\u9884\u540e<\/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\/williams_beuren\/?lang=zh-hans\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\" >\u5f15\u7528\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"%E6%96%87%E7%AB%A0%E6%80%BB%E7%BB%93\"><\/span>\u6587\u7ae0\u603b\u7ed3<span class=\"ez-toc-section-end\"><\/span><\/h2><p>\u5a01\u5ec9\u59c6\u65af\u7efc\u5408\u5f81\uff08Williams Syndrome, WS\uff09\u662f\u4e00\u79cd\u7f55\u89c1\u7684\u9057\u4f20\u6027\u75be\u75c5\uff0c\u6d89\u53ca\u795e\u7ecf\u53d1\u80b2\u5f02\u5e38\u3001\u8eab\u4f53\u7279\u5f81\u5dee\u5f02\uff0c\u4ee5\u53ca\u5fc3\u8840\u7ba1\u548c\u5185\u5206\u6ccc\u7cfb\u7edf\u7684\u95ee\u9898\u3002\u672c\u6587\u63d0\u4f9b\u4e86\u5173\u4e8eWS\u7684\u75c7\u72b6\u3001\u8bca\u65ad\u4e0e\u6cbb\u7597\u7684\u6700\u65b0\u4fe1\u606f\u3002\u5f3a\u8c03\u65e9\u671f\u8bca\u65ad\u548c\u5168\u9762\u7167\u62a4\u7684\u91cd\u8981\u6027\uff0c\u5e76\u4ecb\u7ecd\u4e86\u5e2e\u52a9\u60a3\u8005\u53ca\u5176\u5bb6\u5ead\u5b9e\u73b0\u66f4\u597d\u751f\u6d3b\u7684\u652f\u6301\u65b9\u5f0f\u3002<\/p><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E7%97%85%E6%A6%82%E8%BF%B0\"><\/span><strong>\u75be\u75c5\u6982\u8ff0<\/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\/7q11.23-hgtIdeo_genome_93c07_b20020-1024x23.png\" alt=\"7q11.23\" class=\"wp-image-88871\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u5a01\u5ec9\u59c6\u65af\u7efc\u5408\u5f81\uff08Williams Syndrome\uff0c\u7b80\u79f0WS\uff09\u662f\u4e00\u79cd\u7f55\u89c1\u7684\u9057\u4f20\u6027\u75be\u75c5\uff0c\u5f71\u54cd\u8eab\u4f53\u7684\u591a\u4e2a\u7cfb\u7edf\uff0c\u5c24\u5176\u4ee5\u795e\u7ecf\u53d1\u80b2\u76f8\u5173\u95ee\u9898\u4e3a\u7279\u5f81\u3002\u8fd9\u79cd\u75be\u75c5\u56e0\u5176\u72ec\u7279\u7684\u5916\u8c8c\u7279\u5f81\u3001\u53d1\u80b2\u8fdf\u7f13\u4ee5\u53ca\u4f34\u968f\u7684\u591a\u79cd\u533b\u5b66\u95ee\u9898\u800c\u88ab\u5e7f\u6cdb\u8ba4\u8bc6\u3002<\/p>\n\n\n\n<p>\u60a3\u6709WS\u7684\u60a3\u8005\u901a\u5e38\u5177\u6709\u5178\u578b\u7684\u9762\u90e8\u7279\u5f81\uff0c\u5305\u62ec\u5bbd\u989d\u5934\u3001\u592a\u9633\u7a74\u72ed\u7a84\u3001\u773c\u5468\u6d6e\u80bf\u3001\u8679\u819c\u5448\u73b0\u661f\u5f62\u6216\u7f51\u72b6\u82b1\u7eb9\u3001\u77ed\u800c\u5fae\u5fae\u4e0a\u7fd8\u7684\u5706\u9f3b\u3001\u8f83\u957f\u7684\u4eba\u4e2d\uff08\u9f3b\u5b50\u4e0e\u4e0a\u5507\u4e4b\u95f4\u7684\u533a\u57df\uff09\u3001\u5bbd\u5927\u7684\u5634\u5507\u3001\u4e30\u6ee1\u7684\u53cc\u5507\uff0c\u4ee5\u53ca\u8f7b\u5ea6\u7684\u4e0b\u988c\u53d1\u80b2\u4e0d\u8db3\uff08\u5c0f\u4e0b\u988c\uff09\u3002<br>\u5728\u53d1\u80b2\u65b9\u9762\uff0cWS\u60a3\u8005\u5e38\u8868\u73b0\u51fa\u8f7b\u5ea6\u667a\u529b\u969c\u788d\u6216\u8ba4\u77e5\u7f3a\u9677\uff0c\u4f46\u4e5f\u6709\u72ec\u7279\u7684\u8ba4\u77e5\u7279\u5f81\uff1a\u8bed\u8a00\u80fd\u529b\u5f80\u5f80\u76f8\u5bf9\u8f83\u5f3a\uff0c\u800c\u7a7a\u95f4\u63a8\u7406\u80fd\u529b\u5219\u660e\u663e\u4e0d\u8db3\u3002\u6b64\u5916\uff0cWS\u60a3\u8005\u5e38\u8868\u73b0\u51fa\u8fc7\u5ea6\u53cb\u5584\u3001\u60c5\u7eea\u8c03\u8282\u56f0\u96be\u7b49\u6027\u683c\u7279\u5f81\u3002<\/p>\n\n\n\n<p>\u5fc3\u8840\u7ba1\u95ee\u9898\u662fWS\u5e38\u89c1\u7684\u4f34\u968f\u75be\u75c5\uff0c\u5176\u4e2d\u6700\u5e38\u89c1\u7684\u662f\u4e3b\u52a8\u8109\u74e3\u4e0a\u72ed\u7a84\uff08\u4e3b\u52a8\u8109\u74e3\u4e0a\u65b9\u7684\u8840\u7ba1\u72ed\u7a84\uff09\u3002\u5176\u4ed6\u95ee\u9898\u8fd8\u5305\u62ec\u80ba\u52a8\u8109\u5206\u652f\u72ed\u7a84\u548c\u9ad8\u8840\u538b\u3002\u6b64\u5916\uff0c\u60a3\u8005\u5e38\u8868\u73b0\u51fa\u7ed3\u7f14\u7ec4\u7ec7\u5f02\u5e38\uff0c\u5982\u5173\u8282\u8fc7\u5ea6\u67d4\u8f6f\u3001\u76ae\u80a4\u8fc7\u5ea6\u5ef6\u5c55\u6027\uff0c\u8fd9\u4e9b\u95ee\u9898\u4e5f\u5bfc\u81f4\u4e86\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\u3002\u4f4e\u808c\u5f20\u529b\uff08\u808c\u8089\u5f20\u529b\u4e0d\u8db3\uff09\u53ca\u5173\u8282\u8fc7\u5ea6\u67d4\u8f6f\u5728\u5a74\u5e7c\u513f\u671f\u5c24\u4e3a\u5e38\u89c1\uff0c\u5f71\u54cd\u884c\u8d70\u7b49\u8fd0\u52a8\u6280\u80fd\u7684\u83b7\u5f97\u3002<\/p>\n\n\n\n<p>\u5185\u5206\u6ccc\u95ee\u9898\u4e5f\u662fWS\u7684\u91cd\u8981\u8868\u73b0\uff0c\u5305\u62ec\u6027\u65e9\u719f\uff08\u9752\u6625\u671f\u8fc7\u65e9\uff09\u3001\u8840\u6db2\uff08\u9ad8\u9499\u8840\u75c7\uff09\u6216\u5c3f\u6db2\uff08\u9ad8\u9499\u5c3f\u75c7\uff09\u4e2d\u9499\u6d53\u5ea6\u5347\u9ad8\u3001\u7532\u72b6\u817a\u529f\u80fd\u51cf\u9000\u75c7\u7b49\u3002\u60a3\u8005\u901a\u5e38\u4f34\u6709\u751f\u957f\u8fdf\u7f13\uff0c\u6210\u5e74\u540e\u7684\u8eab\u9ad8\u5e38\u4f4e\u4e8e\u5e73\u5747\u6c34\u5e73\u3002\u6b64\u5916\uff0c\u5a74\u513f\u671f\u5e38\u6709\u5582\u517b\u56f0\u96be\uff0c\u4f53\u91cd\u589e\u52a0\u7f13\u6162\u3002<\/p>\n\n\n\n<p>WS\u7684\u60a3\u75c5\u7387\u5927\u7ea6\u4e3a\u6bcf7,500\u4eba\u4e2d\u67091\u4eba\uff0c\u7537\u5973\u53d1\u75c5\u7387\u76f8\u540c\u3002\u7531\u4e8e\u8be5\u75be\u75c5\u6d89\u53ca\u7684\u4e34\u5e8a\u8868\u73b0\u591a\u6837\u4e14\u590d\u6742\uff0c\u60a3\u8005\u7684\u62a4\u7406\u901a\u5e38\u9700\u8981\u591a\u5b66\u79d1\u7684\u7efc\u5408\u7ba1\u7406\u548c\u652f\u6301\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=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24474970_s.jpg\" alt=\"\u5b89\u5b9a\u306a\u6301\u3061\u65b9\" class=\"wp-image-87719\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"height:16px\" 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: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%E4%B8%8E%E8%AF%8A%E6%96%AD%E6%96%B9%E6%B3%95\"><\/span><strong>\u75c5\u56e0\u4e0e\u8bca\u65ad\u65b9\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5a01\u5ec9\u59c6\u65af\u7efc\u5408\u5f81\uff08Williams Syndrome\uff0cWS\uff09\u6216\u79f0\u4e3a\u5a01\u5ec9\u59c6\u65af-\u6bd4\u5c14\u4f26\u7efc\u5408\u5f81\uff0c\u662f\u7531\u4e8e7\u53f7\u67d3\u8272\u4f53\u7279\u5b9a\u4f4d\u70b9\uff087q11.23\uff09\u53d1\u751f\u7f3a\u5931\u6240\u81f4\u3002\u8fd9\u4e00\u533a\u57df\u7684\u7f3a\u5931\u901a\u5e38\u8303\u56f4\u57281.5\u81f31.8\u5146\u78b1\u57fa\u5bf9\uff08Mb\uff09\uff0c\u6d89\u53ca\u5927\u7ea625\u81f328\u4e2a\u57fa\u56e0\u3002\u8fd9\u79cd\u7f3a\u5931\u901a\u5e38\u4e3a\u81ea\u7136\u53d1\u751f\u7684\u7a81\u53d8\uff0c\u5f88\u5c11\u7531\u7236\u6bcd\u9057\u4f20\u3002<\/p>\n\n\n\n<div style=\"height:14px\" 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\/chr7-MddSfJbXVScYYCJQYcAAAOcK.png\" alt=\"ch7\" class=\"wp-image-88880\"\/><\/figure><\/div>\n\n\n<div style=\"height:14px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u8be5\u7f3a\u5931\u533a\u57df\u88ab\u79f0\u4e3a\u201c\u4f4e\u62f7\u8d1d\u91cd\u590d\u5e8f\u5217\u201d\uff08Low Copy Repeats\uff0cLCRs\uff09\u5305\u56f4\u3002\u5728\u5375\u5b50\u6216\u7cbe\u5b50\u5f62\u6210\u8fc7\u7a0b\u4e2d\uff08\u51cf\u6570\u5206\u88c2\uff09\uff0c\u7531\u4e8e\u8fd9\u4e9b\u91cd\u590d\u5e8f\u5217\u9ad8\u5ea6\u76f8\u4f3c\uff0c\u53ef\u80fd\u53d1\u751f\u9519\u4f4d\uff0c\u5bfc\u81f4\u975e\u5747\u7b49\u4ea4\u6362\uff0c\u4ece\u800c\u5f15\u53d1\u5bfc\u81f4WS\u7684\u7f3a\u5931\u3002\u5728\u8be5\u533a\u57df\u7684\u4f17\u591a\u57fa\u56e0\u4e2d\uff0c\u5f39\u6027\u86cb\u767d\u57fa\u56e0\uff08ELN\uff09\u7814\u7a76\u6700\u4e3a\u6df1\u5165\u3002ELN\u57fa\u56e0\u7684\u5355\u62f7\u8d1d\u7f3a\u5931\uff08\u5355\u500d\u5242\u91cf\u4e0d\u8db3\uff09\u76f4\u63a5\u4e0e\u52a8\u8109\u72ed\u7a84\u76f8\u5173\uff0c\u8fd9\u662fWS\u7684\u5e38\u89c1\u4e34\u5e8a\u8868\u73b0\u4e4b\u4e00\u3002\u5176\u4ed6\u57fa\u56e0\u4e5f\u4e0e\u4e0d\u540c\u75c7\u72b6\u76f8\u5173\uff0c\u4f46\u8bb8\u591a\u5c1a\u672a\u5b8c\u5168\u9610\u660e\u3002<\/p>\n\n\n\n<p>WS\u7684\u8bca\u65ad\u4f9d\u8d56\u4e8e\u8bc6\u522b\u5178\u578b\u7684\u4e34\u5e8a\u8868\u73b0\uff08\u8868\u578b\uff09\u5e76\u7ed3\u5408\u57fa\u56e0\u68c0\u6d4b\u8fdb\u884c\u786e\u8ba4\u3002\u5e38\u7528\u7684\u57fa\u56e0\u68c0\u6d4b\u65b9\u6cd5\u5305\u62ec\u8367\u5149\u539f\u4f4d\u6742\u4ea4\uff08FISH\uff09\u548c\u67d3\u8272\u4f53\u5fae\u9635\u5217\u5206\u6790\uff0c\u8fd9\u4e9b\u65b9\u6cd5\u53ef\u4ee5\u68c0\u6d4b7q11.23\u533a\u57df\u7684\u7f3a\u5931\u3002\u8fd1\u5e74\u6765\uff0c\u968f\u7740DNA\u6d4b\u5e8f\u6280\u672f\u7684\u53d1\u5c55\uff0c\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u6d4b\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09\u6210\u4e3a\u5b55\u671f\u68c0\u6d4bWS\u7684\u4e00\u79cd\u5b89\u5168\u3001\u53ef\u9760\u4e14\u65e0\u98ce\u9669\u7684\u65b9\u6cd5\u3002<\/p>\n\n\n\n<p>\u9057\u4f20\u54a8\u8be2\u662fWS\u7ba1\u7406\u7684\u91cd\u8981\u7ec4\u6210\u90e8\u5206\uff0c\u5e94\u5411\u53d7\u5f71\u54cd\u7684\u5bb6\u5ead\u63d0\u4f9b\u76f8\u5173\u4fe1\u606f\u3002\u5927\u591a\u6570\u75c5\u4f8b\u4e3a\u81ea\u7136\u7a81\u53d8\uff08de novo\uff09\uff0c\u5e76\u975e\u7236\u6bcd\u9057\u4f20\uff0c\u56e0\u6b64\u518d\u6b21\u751f\u80b2\u60a3\u513f\u7684\u98ce\u9669\u6781\u4f4e\uff08\u4f4e\u4e8e1%\uff09\u3002\u4f46\u82e5\u60a3\u8005\u672c\u4eba\u751f\u80b2\u5b50\u5973\uff0c\u5219\u670950%\u7684\u6982\u7387\u5c06\u7f3a\u5931\u533a\u57df\u9057\u4f20\u7ed9\u5b50\u4ee3\u3002\u6b64\u5916\uff0c\u5982\u679c\u643a\u5e26\u7279\u5b9a\u7684\u67d3\u8272\u4f53\u5012\u4f4d\u591a\u6001\u6027\uff08inversion polymorphism\uff09\uff0c\u5219\u751f\u80b2\u60a3\u513f\u7684\u98ce\u9669\u4f1a\u7565\u5fae\u589e\u52a0\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"text-align: center;\">\n    <a title=\"Williams Syndrome Association, CC BY-SA 4.0 &lt;https:\/\/creativecommons.org\/licenses\/by-sa\/4.0&gt;, via Wikimedia Commons\" href=\"https:\/\/commons.wikimedia.org\/wiki\/File:Four_kids_with_Williams_syndrome.jpg\">\n        <img decoding=\"async\" width=\"512\" alt=\"Four children with several facial features characteristic of Williams syndrome.\" src=\"https:\/\/upload.wikimedia.org\/wikipedia\/commons\/thumb\/e\/e5\/Four_kids_with_Williams_syndrome.jpg\/512px-Four_kids_with_Williams_syndrome.jpg?20230803011724\">\n    <\/a>\n<\/div>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n\n\n\n<div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/genetic-counseling\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">NIPT\u306b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306f\u5fc5\u8981\uff1f\u5185\u5bb9\u3084\u91cd\u8981\u6027\u3092\u89e3\u8aac <\/div>\n          <div class=\"blog-card-excerpt\">\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001NIPT\u306b\u304a\u3051\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5fc5\u8981\u6027\u3084\u5177\u4f53\u7684\u306a\u5185\u5bb9\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002\u691c\u67fb\u3092\u53d7\u3051\u308b\u524d\u306e\u6ce8\u610f\u70b9\u3084\u3001\u5f8c\u6094\u3057\u306a\u3044\u305f\u3081\u306e\u5224\u65ad\u57fa\u6e96...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%B4%E5%BA%8A%E7%97%87%E7%8A%B6%E4%B8%8E%E7%AE%A1%E7%90%86\"><\/span><strong>\u4e34\u5e8a\u75c7\u72b6\u4e0e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5a01\u5ec9\u59c6\u65af\u7efc\u5408\u5f81\uff08WS\uff09\u662f\u4e00\u79cd\u75317\u53f7\u67d3\u8272\u4f537q11.23\u533a\u57df\u7f3a\u5931\u5bfc\u81f4\u7684\u590d\u6742\u795e\u7ecf\u53d1\u80b2\u969c\u788d\u3002\u5927\u7ea695%\u7684\u60a3\u8005\u7f3a\u5931\u8303\u56f4\u7ea6\u4e3a1.5 Mb\uff0c\u5c11\u6570\u75c5\u4f8b\u7f3a\u5931\u8303\u56f4\u53ef\u8fbe1.84 Mb\u3002\u8fd9\u4e00\u7f3a\u5931\u5f71\u54cd\u4e86\u591a\u4e2a\u8eab\u4f53\u7cfb\u7edf\uff0c\u5bfc\u81f4\u9762\u90e8\u7279\u5f81\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u8ba4\u77e5\u969c\u788d\u548c\u591a\u79cd\u533b\u5b66\u95ee\u9898\u3002<\/p>\n\n\n\n<p>\u6240\u6709WS\u60a3\u8005\u90fd\u6709\u5178\u578b\u7684\u9762\u90e8\u7279\u5f81\uff08\u9762\u90e8\u7578\u5f62\uff09\u3002\u5e7c\u513f\u65f6\u671f\u8868\u73b0\u4e3a\u5185\u7726\u8d58\u76ae\uff08\u773c\u89d2\u76ae\u80a4\u8936\u76b1\uff09\u3001\u9971\u6ee1\u7684\u9762\u988a\u3001\u6241\u5e73\u7684\u9762\u90e8\u8f6e\u5ed3\u3001\u5c0f\u4e14\u7a00\u758f\u7684\u7259\u9f7f\u3002\u968f\u7740\u5e74\u9f84\u589e\u957f\uff0c\u8138\u578b\u53d8\u5f97\u66f4\u7ec6\u957f\uff0c\u9888\u90e8\u4e5f\u663e\u5f97\u8f83\u957f\u3002\u53d1\u80b2\u91cc\u7a0b\u7891\u5982\u884c\u8d70\u3001\u8bed\u8a00\u4e60\u5f97\u5e38\u5e38\u5ef6\u8fdf\uff0c\u7ea675%\u7684\u60a3\u8005\u5b58\u5728\u667a\u529b\u969c\u788d\u3002\u8ba4\u77e5\u65b9\u9762\uff0c\u8bed\u8a00\u548c\u77ed\u671f\u8bb0\u5fc6\u8f83\u5f3a\uff0c\u4f46\u89c6\u89c9\u7a7a\u95f4\u8ba4\u77e5\u80fd\u529b\u4e0d\u8db3\u5c24\u4e3a\u663e\u8457\u3002WS\u60a3\u8005\u901a\u5e38\u975e\u5e38\u53cb\u597d\uff0c\u70ed\u7231\u97f3\u4e50\uff0c\u4f46\u5bf9\u58f0\u97f3\u8fc7\u5ea6\u654f\u611f\uff08\u7531\u4e8e\u542c\u89c9\u53cd\u5c04\u7f3a\u5931\uff09\u8f83\u4e3a\u5e38\u89c1\u3002\u6b64\u5916\uff0c\u60c5\u7eea\u8c03\u8282\u56f0\u96be\u666e\u904d\u5b58\u5728\uff0c\u7ea650%\u7684\u60a3\u8005\u9700\u63a5\u53d7\u7126\u8651\u969c\u788d\u6216\u6ce8\u610f\u7f3a\u9677\u591a\u52a8\u969c\u788d\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09\u7684\u5e72\u9884\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\/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>\u7ea680%\u7684WS\u60a3\u8005\u4f34\u6709\u5fc3\u8840\u7ba1\u75be\u75c5\uff0c\u5176\u4e2d\u4e3b\u52a8\u8109\u74e3\u4e0a\u72ed\u7a84\u6700\u4e3a\u5e38\u89c1\uff0870%\uff09\u3002\u5176\u4ed6\u5fc3\u8840\u7ba1\u95ee\u9898\u5305\u62ec\u9ad8\u8840\u538b\uff0850%\uff09\u3001\u4e3b\u52a8\u8109\u74e3\u6216\u4e8c\u5c16\u74e3\u9000\u884c\u6027\u53d8\u3002\u5185\u5206\u6ccc\u5f02\u5e38\u4e5f\u5f88\u5e38\u89c1\uff0c15\u201345%\u7684\u60a3\u8005\u6709\u9ad8\u9499\u8840\u75c7\u3001\u7cd6\u8010\u91cf\u5f02\u5e38\u62162\u578b\u7cd6\u5c3f\u75c5\uff0c15\u201330%\u6709\u9690\u6027\u7532\u72b6\u817a\u529f\u80fd\u51cf\u9000\u75c7\uff0c50%\u6709\u9aa8\u5bc6\u5ea6\u964d\u4f4e\uff08\u9aa8\u8d28\u51cf\u5c11\u6216\u9aa8\u8d28\u758f\u677e\uff09\u3002\u6b64\u5916\uff0c\u8fd8\u5e38\u89c1\u8f74\u5411\u4f4e\u808c\u5f20\u529b\uff08\u8eaf\u5e72\u808c\u8089\u65e0\u529b\uff09\u3001\u56db\u80a2\u9ad8\u808c\u5f20\u529b\u3001\u8171\u53cd\u5c04\u589e\u5f3a\u3001\u5c0f\u8111\u6027\u5171\u6d4e\u5931\u8c03\u3001\u9707\u98a4\u3001\u6210\u957f\u8fdf\u7f13\uff08\u6210\u957f\u901f\u5ea6\u4e3a\u6b63\u5e38\u513f\u7ae5\u7684\u7ea675%\uff09\u3001\u5e7c\u513f\u671f\u5173\u8282\u8fc7\u5ea6\u7075\u6d3b\u3001\u6210\u957f\u540e\u5173\u8282\u631b\u7f29\u3001\u6b65\u6001\u5f02\u5e38\u3001\u810a\u67f1\u7578\u5f62\uff08\u8170\u690e\u524d\u51f8\u3001\u810a\u67f1\u540e\u51f8\u3001\u4fa7\u5f2f\uff09\u3001\u773c\u8033\u7259\u9f7f\u5f02\u5e38\u3001\u7761\u7720\u969c\u788d\u3001\u5582\u517b\u56f0\u96be\u3001\u6d88\u5316\u95ee\u9898\u3001\u8180\u80f1\u61a9\u5ba4\u3001\u6ccc\u5c3f\u9053\u7578\u5f62\u3001\u6ccc\u5c3f\u9053\u611f\u67d3\u53ca\u591c\u9057\u5c3f\u7b49\u3002<\/p>\n\n\n\n<p>WS\u7684\u7ba1\u7406\u9700\u8981\u591a\u5b66\u79d1\u3001\u7ec8\u751f\u7684\u7efc\u5408\u65b9\u6cd5\u3002\u65b0\u751f\u513f\u671f\u9700\u8981\u5fc3\u810f\u68c0\u67e5\uff0c\u5a74\u513f\u671f\u9700\u8981\u5bc6\u5207\u76d1\u6d4b\u8840\u9499\u6c34\u5e73\u3002\u624b\u672f\u8fc7\u7a0b\u4e2d\u7531\u4e8e\u5fc3\u8840\u7ba1\u5e76\u53d1\u75c7\u98ce\u9669\u8f83\u9ad8\uff0c\u9700\u5728\u672f\u524d\u548c\u672f\u540e\u8fdb\u884c\u4e25\u683c\u7684\u98ce\u9669\u63a7\u5236\u3002\u65e9\u671f\u5e72\u9884\u8ba1\u5212\uff0c\u5982\u7269\u7406\u6cbb\u7597\u3001\u4f5c\u4e1a\u6cbb\u7597\u548c\u8bed\u8a00\u6cbb\u7597\uff0c\u5bf9\u53d1\u80b2\u8fdf\u7f13\u7684\u6539\u5584\u81f3\u5173\u91cd\u8981\u3002\u6b64\u5916\uff0c\u60a3\u8005\u3001\u5bb6\u5ead\u53ca\u7167\u62a4\u8005\u5e94\u83b7\u53d6\u76f8\u5173\u4fe1\u606f\uff0c\u5e76\u5229\u7528\u652f\u6301\u56e2\u4f53\u63d0\u9ad8\u751f\u6d3b\u8d28\u91cf\u3002<\/p>\n\n\n\n<p>\u5c3d\u7ba1WS\u7684\u9057\u4f20\u539f\u56e0\u5df2\u660e\u786e\uff0c\u4f46\u5176\u590d\u6742\u591a\u6837\u7684\u75c7\u72b6\u80cc\u540e\u7684\u5206\u5b50\u673a\u5236\u4ecd\u6709\u5f85\u8fdb\u4e00\u6b65\u7814\u7a76\u3002\u6700\u65b0\u7684\u5168\u57fa\u56e0\u7ec4\u7814\u7a76\u5df2\u53d1\u73b0\u4e00\u4e9b\u4e0eWS\u76f8\u5173\u7684\u5f02\u5e38\u57fa\u56e0\u901a\u8def\uff0c\u8fd9\u4e3a\u672a\u6765\u7814\u7a76\u53ca\u6cbb\u7597\u7b56\u7565\u5f00\u53d1\u63d0\u4f9b\u4e86\u65b0\u65b9\u5411\u3002<\/p>\n\n\n\n<div style=\"height:12px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A2%84%E5%90%8E\"><\/span><strong>\u9884\u540e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u76ee\u524d\u5c1a\u65e0\u5173\u4e8eWS\u60a3\u8005\u5e73\u5747\u5bff\u547d\u7684\u786e\u5207\u8bc4\u4f30\uff0c\u4f46\u5fc3\u8840\u7ba1\u5e76\u53d1\u75c7\u662f\u4e3b\u8981\u6b7b\u4ea1\u539f\u56e0\u3002\u8840\u7ba1\u72ed\u7a84\u5728\u51fa\u751f\u540e\u524d5\u5e74\u53ef\u80fd\u52a0\u91cd\uff0c\u4f46\u90e8\u5206\u75c7\u72b6\u5982\u5916\u5468\u80ba\u52a8\u8109\u72ed\u7a84\u53ef\u80fd\u81ea\u7136\u7f13\u89e3\u3002\u591a\u6570\u60a3\u8005\u5728\u4e00\u751f\u4e2d\u9700\u8981\u6301\u7eed\u7684\u533b\u7597\u62a4\u7406\u548c\u751f\u6d3b\u652f\u6301\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u6765\uff0c\u7814\u7a76\u8868\u660e\u63a5\u53d7\u5fc3\u8840\u7ba1\u624b\u672f\u7684WS\u60a3\u8005\u5177\u6709\u826f\u597d\u7684\u957f\u671f\u9884\u540e\u3002\u5982\u679c\u60a3\u8005\u987a\u5229\u5ea6\u8fc7\u672f\u540e5\u5e74\uff0c\u63a5\u4e0b\u6765\u768430\u5e74\u751f\u5b58\u7387\u53ef\u8d85\u8fc790%\u3002\u968f\u7740\u533b\u7597\u6c34\u5e73\u548c\u6cbb\u7597\u624b\u6bb5\u7684\u4e0d\u65ad\u63d0\u5347\uff0cWS\u513f\u7ae5\u7684\u9884\u540e\u6b63\u5728\u9010\u6b65\u6539\u5584\u3002\u5c24\u5176\u662f\u5229\u7528\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u6d4b\u8fdb\u884c\u65e9\u671f\u8bca\u65ad\uff0c\u53ef\u4f7f\u7236\u6bcd\u83b7\u5f97\u5145\u5206\u51c6\u5907\u5e76\u53ca\u65f6\u63a5\u53d7\u9002\u5f53\u7684\u533b\u7597\u5e72\u9884\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=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24156031_s.jpg\" alt=\"\u5b50\u3069\u3082\u3092\u611b\u3055\u306a\u3044\u3068\" class=\"wp-image-87708\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\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=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\"><\/span>\u5f15\u7528\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1249\/\">Morris CA. Williams Syndrome. 1999 Apr 9 [Updated 2023 Apr 13]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1249\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/emmm.200900003\">Li, H. H., Roy, M., Kuscuoglu, U., Spencer, C. M., Halm, B., Harrison, K. C., Bayle, J. H., Splendore, A., Ding, F., Meltzer, L. A., Wright, E., Paylor, R., Deisseroth, K., &amp; Francke, U. (2009). Induced chromosome deletions cause hypersociability and other features of Williams\u2013Beuren syndrome in mice. <em>EMBO Molecular Medicine<\/em>, <em>1<\/em>(1), 50\u201365. https:\/\/doi.org\/10.1002\/emmm.200900003<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s00018-008-8401-y\">Schubert, C. (2009). The genomic basis of the Williams \u2013 Beuren syndrome. <em>Cellular and Molecular Life Sciences<\/em>, <em>66<\/em>(7), 1178\u20131197. https:\/\/doi.org\/10.1007\/s00018-008-8401-y<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41597-019-0281-5\">De Cegli, R., Iacobacci, S., Fedele, A., Ballabio, A., &amp; Di Bernardo, D. (2019). A transcriptomic study of Williams-Beuren syndrome associated genes in mouse embryonic stem cells. <em>Scientific Data<\/em>, <em>6<\/em>(1), 262. https:\/\/doi.org\/10.1038\/s41597-019-0281-5<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.amjcard.2022.10.037\">Zinyandu, T., Montero, A. J., Thomas, A. S., Sassis, L., Kefala-Karli, P., Knight, J., &amp; Kochilas, L. K. (2023). Thirty-Year Survival After Cardiac Surgery in Children With Williams-Beuren Syndrome (from the Pediatric Cardiac Care Consortium Study). <em>The American journal of cardiology<\/em>, <em>187<\/em>, 48\u201353. https:\/\/doi.org\/10.1016\/j.amjcard.2022.10.037<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/904?name=Williams-Beuren%20syndrome&amp;mode=name\">Orphanet. (Last updated March 2021). <em>Williams syndrome.<\/em> Reviewed by Dr Pernille GREGERSEN, Dr Mette HANDRUP, Dr Anne LEEGAARD. Retrieved from https:\/\/www.orpha.net\/en\/disease\/detail\/904?name=Williams-Beuren%20syndrome&amp;mode=name<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkae974\">Perez, G., Barber, G. P., Benet-Pages, A., Casper, J., Clawson, H., Diekhans, M., Fischer, C., Gonzalez, J. N., Hinrichs, A. S., Lee, C. M., Nassar, L. R., Raney, B. J., Speir, M. L., van Baren, M. J., Vaske, C. J., Haussler, D., Kent, W. J., &amp; Haeussler, M. (2024). The UCSC Genome Browser database: 2025 update. Nucleic Acids Research, gkae974. https:\/\/doi.org\/10.1093\/nar\/gkae974<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkad1049\">Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., Bhurji, S. K., Boddu, S., Branco Lins, P. R., Brooks, L., Budhanuru Ramaraju, S., Campbell, L. I., Carbajo Martinez, M., Charkhchi, M., Chougule, K., \u2026 Yates, A. D. (2024). Ensembl 2024. Nucleic Acids Research, 52(D1), D891\u2013D899. https:\/\/doi.org\/10.1093\/nar\/gkad1049<\/a><\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n","protected":false},"excerpt":{"rendered":"\u6587\u7ae0\u603b\u7ed3\u5a01\u5ec9\u59c6\u65af\u7efc\u5408\u5f81\uff08Williams&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":87784,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[14],"tags":[],"class_list":["post-111791","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-other-zh-hans"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111791","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\/101"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=111791"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111791\/revisions"}],"predecessor-version":[{"id":111802,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111791\/revisions\/111802"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/87784"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=111791"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=111791"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=111791"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}