{"id":44336,"date":"2020-07-28T12:26:00","date_gmt":"2020-07-28T03:26:00","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/sotos-syndrome\/"},"modified":"2025-10-16T12:04:28","modified_gmt":"2025-10-16T03:04:28","slug":"sotos-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/sotos-syndrome\/?lang=zh-hans","title":{"rendered":"\u7d22\u6258\u65af\u7efc\u5408\u75c7\uff08Sotos\u7efc\u5408\u75c7\uff09\u7684\u75c5\u56e0\u3001\u75c7\u72b6\u548c\u4e34\u5e8a\u8bca\u65ad \u3010\u533b\u751f\u76d1\u7763\u3011"},"content":{"rendered":"\n<div class=\"toc\">\n\t<ul>\n\t\t<li><a href=\"#c1\">\u7d22\u6258\u65af\u7efc\u5408\u75c7\u7684\u7279\u5f81<\/a>\n\t\t\t<ul>\n\t\t\t\t<li><a href=\"#c1-1\">\u6d41\u884c\u75c5\u5b66\u7279\u5f81<\/a><\/li>\n\t\t\t\t<li><a href=\"#c1-2\">\u5916\u8868\u7279\u5f81<\/a><\/li>\n\t\t\t<\/ul>\n\t\t<\/li>\n\t\t<li><a href=\"#c2\">\u7d22\u6258\u65af\u7efc\u5408\u75c7\u7684\u75c7\u72b6<\/a>\n\t\t\t<ul>\n\t\t\t\t<li><a href=\"#c2-1\">\u795e\u7ecf\u6027\u7684\u75c7\u72b6<\/a><\/li>\n\t\t\t\t<li><a href=\"#c2-2\">\u5176\u4ed6\u90e8\u4f4d\u7684\u75c7\u72b6<\/a><\/li>\n\t\t\t<\/ul>\n\t\t<\/li>\n\t\t<li><a href=\"#c3\">\u7d22\u6258\u65af\u7efc\u5408\u75c7\u7684\u75c5\u56e0<\/a><\/li>\n\t\t<li><a href=\"#c4\">\u7d22\u6258\u65af\u7efc\u5408\u75c7\u7684\u8bca\u65ad<\/a><\/li>\n\t\t<li><a href=\"#c5\">\u5728\u65e5\u672c\u7d22\u6258\u65af\u7efc\u5408\u5f81\u7684\u8bca\u65ad\u6807\u51c6\u65e5\u672c<\/a><\/li>\n\t\t<li><a href=\"#c6\">\u65e5\u672c\u56fd\u5185\u7d22\u6258\u65af\u7efc\u5408\u75c7\u7684\u4e25\u91cd\u7a0b\u5ea6\u5206\u7c7b<\/a><\/li>\n\t\t<li><a href=\"#c7\">\u7d22\u6258\u65af\u7efc\u5408\u75c7\u7684\u6cbb\u7597\u4e0e\u68c0\u67e5<\/a><\/li>\n\t<\/ul>\n<button class=\"toc_more\">\u6253\u5f00\u76ee\u5f55<\/button>\n<\/div>\n\n\n<p style=\"width:100%;max-width:300px;margin:0 auto;\"><a href=\"\/nipt\/\" class=\"content-bnr about\"><img decoding=\"async\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/sotos-syndrome\/?lang=zh-hans\/#%E7%B4%A2%E6%89%98%E6%96%AF%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E8%AF%8A%E6%96%AD\" >\u7d22\u6258\u65af\u7efc\u5408\u75c7\u7684\u8bca\u65ad<\/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\/sotos-syndrome\/?lang=zh-hans\/#%E5%9C%A8%E6%97%A5%E6%9C%AC%E7%B4%A2%E6%89%98%E6%96%AF%E7%BB%BC%E5%90%88%E5%BE%81%E7%9A%84%E8%AF%8A%E6%96%AD%E6%A0%87%E5%87%86%E6%97%A5%E6%9C%AC\" >\u5728\u65e5\u672c\u7d22\u6258\u65af\u7efc\u5408\u5f81\u7684\u8bca\u65ad\u6807\u51c6\u65e5\u672c<\/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\/sotos-syndrome\/?lang=zh-hans\/#%E6%97%A5%E6%9C%AC%E5%9B%BD%E5%86%85%E7%B4%A2%E6%89%98%E6%96%AF%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E4%B8%A5%E9%87%8D%E7%A8%8B%E5%BA%A6%E5%88%86%E7%B1%BB\" >\u65e5\u672c\u56fd\u5185\u7d22\u6258\u65af\u7efc\u5408\u75c7\u7684\u4e25\u91cd\u7a0b\u5ea6\u5206\u7c7b<\/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\/sotos-syndrome\/?lang=zh-hans\/#%E7%B4%A2%E6%89%98%E6%96%AF%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E6%B2%BB%E7%96%97%E4%B8%8E%E6%A3%80%E6%9F%A5\" >\u7d22\u6258\u65af\u7efc\u5408\u75c7\u7684\u6cbb\u7597\u4e0e\u68c0\u67e5<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\" id=\"c1\"><span class=\"ez-toc-section\" id=\"%E7%B4%A2%E6%89%98%E6%96%AF%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E7%89%B9%E5%BE%81\"><\/span><strong>\u7d22\u6258\u65af\u7efc\u5408\u75c7\u7684\u7279\u5f81<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c1-1\"><span class=\"ez-toc-section\" id=\"%E6%B5%81%E8%A1%8C%E7%97%85%E5%AD%A6%E7%89%B9%E5%BE%81\"><\/span><strong>\u6d41\u884c\u75c5\u5b66\u7279\u5f81<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u636e\u63a8\u6d4b\uff0c\u65e5\u672c\u56fd\u5185\u6bcf1\u30012\u4e07\u4eba\u4e2d\u5c31\u67091\u540d\u60a3\u8005,\u5230\u76ee\u524d\u4e3a\u6b62\u5df2\u786e\u8ba4\u4e86800\u591a\u4f8b,\u800c\u4e14\u6ca1\u6709\u53d1\u73b0\u6027\u522b\u5dee\u5f02\u3002\u636e\u8bf4\u9884\u540e\u53d7\u5230\u5fc3\u810f\uff0c\u80be\u810f\u548c\u795e\u7ecf\u7cfb\u7edf\u75be\u75c5\u7684\u5f71\u54cd\uff0c\u4f46\u5bf9\u5bff\u547d\u4f3c\u4e4e\u6ca1\u6709\u5f71\u54cd\u3002\u7136\u800c\uff0c\u81ea\u7d22\u6258\u65af\u7efc\u5408\u75c7\u53d1\u73b0\u4ee5\u6765\u4ec5\u8fc7\u53bb\u4e86\u4e0d\u523060\u5e74,\u56e0\u6b64\u9700\u8981\u957f\u671f\u89c2\u5bdf\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c1-2\"><span class=\"ez-toc-section\" id=\"%E5%A4%96%E8%A1%A8%E7%89%B9%E5%BE%81\"><\/span><strong>\u5916\u8868\u7279\u5f81<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7d22\u6258\u65af\u7efc\u5408\u75c7\u662f\u6700\u65e9\u4e8e1964\u5e74\u62a5\u9053\u7684\u4e00\u79cd\u9057\u4f20\u6027\u75be\u75c5,\u5176\u7279\u5f81\u662f\u51fa\u751f\u524d\u548c\u51fa\u751f\u540e\u8fc7\u5ea6\u589e\u957f\u3001\u5934\u5927\u800c\u72ed\u957f (\u957f\u5934) 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width=\"600\" height=\"400\" src=\"\/nipt\/wp-content\/uploads\/2022\/09\/sotos-syndrome02.jpg\" alt=\"\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\" class=\"wp-image-41786\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\" id=\"c2\"><span class=\"ez-toc-section\" id=\"%E7%B4%A2%E6%89%98%E6%96%AF%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E7%97%87%E7%8A%B6\"><\/span><strong>\u7d22\u6258\u65af\u7efc\u5408\u75c7\u7684\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c2-1\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%A5%9E%E7%BB%8F%E6%80%A7%E7%9A%84%E7%97%87%E7%8A%B6\"><\/span>\u795e<strong>\u795e\u7ecf\u6027\u7684\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u662f\u4ee5\u4e2d\u67a2\u795e\u7ecf\u7cfb\u7edf\u75c7\u72b6\u5e38\u89c1\u4e3a\u7279\u5f81\u7684\u75be\u75c5\u3002\u53d1\u80b2\u3001\u884c\u8d70\u548c\u8c08\u8bdd 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class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5df2\u77e5\u65b0\u751f\u513f\u901a\u5e38\u6709\u9ec4\u75b8\u3001\u8fdb\u98df\u56f0\u96be\u548c\u808c\u5f20\u529b\u4f4e\u4e0b\u3002\u7ea68~35%\u60a3\u6709\u7d22\u6258\u65af\u7efc\u5408\u75c7\u7684\u513f\u7ae5\u6709\u5fc3\u810f\u5f02\u5e38,\u4f46\u662f\u901a\u5e38\u4e0d\u4e25\u91cd\u3002\u6b64\u5916\uff0c\u7ea620%\u7684\u60a3\u8005\u6709\u751f\u6b96\u5668\u6216\u6ccc\u5c3f\u7cfb\u7edf\u5f02\u5e38\u3002\u4e0e\u7d22\u6258\u65af\u7efc\u5408\u75c7\u76f8\u5173\u7684\u5176\u4ed6\u53d1\u73b0\u5305\u62ec\u4e0e\u4e0a\u547c\u5438\u9053\u611f\u67d3\u9891\u7387\u589e\u52a0\u76f8\u5173\u7684\u542c\u89c9\u969c\u788d\u3001\u5305\u62ec\u659c\u89c6\u7684\u773c\u90e8\u5f02\u5e38\u548c\u9aa8\u9abc\u5f02\u5e38\u3002\u7ea640%\u7684\u60a3\u8005\u6709\u810a\u67f1\u5f2f\u66f2 (\u810a\u67f1\u4fa7\u5f2f) ,\u4f46\u5176\u7a0b\u5ea6\u901a\u5e38\u4e0d\u4f1a\u4e25\u91cd\u5230\u9700\u8981\u77eb\u5f62\u6216\u624b\u672f\u3002\u6b64\u5916\uff0c\u7ea62.2~3.9%\u7684\u60a3\u8005\u53ef\u53d1\u751f\u80bf\u7624\uff0c\u5982\u9ab6\u5c3e\u90e8\u7578\u80ce\u7624\u3001\u795e\u7ecf\u6bcd\u7ec6\u80de\u7624\u3001\u9ab6\u524d\u795e\u7ecf\u8282\u7624\u548c\u6025\u6027\u6dcb\u5df4\u7ec6\u80de\u767d\u8840\u75c5\u3002<\/p>\n\n\n\n<p>\u53d7\u5f71\u54cd\u7684\u5a74\u5e7c\u513f\u548c\u513f\u7ae5\u901a\u5e38\u4f1a\u63a8\u8fdf\u5b8c\u6210\u67d0\u4e9b\u53d1\u80b2\u91cc\u7a0b\u7891 (\u5982\u5750\u3001\u722c\u3001\u8d70\u7b49) \u3002\u4f8b\u5982\uff0c\u5a74\u513f\u53ef\u80fd\u572815~17\u4e2a\u6708\u5927\u65f6\u624d\u5f00\u59cb\u884c\u8d70\u3002\u513f\u7ae5\u53ef\u80fd\u96be\u4ee5\u8fdb\u884c\u9700\u8981\u534f\u8c03\u6027 (\u4f8b\u5982,\u9a91\u81ea\u884c\u8f66\u6216\u8fd0\u52a8) \u548c\u7ec6\u5fae\u8fd0\u52a8\u80fd\u529b (\u4f8b\u5982,\u6293\u63e1\u8f83\u5c0f\u7269\u4f53\u7684\u80fd\u529b) \u7684\u7279\u5b9a\u4efb\u52a1,\u5e76\u8868\u73b0\u51fa\u5f02\u5e38\u7684\u8fd0\u52a8\u969c\u788d\u3002\u6b64\u5916\uff0c\u513f\u7ae5\u901a\u5e38\u5728\u83b7\u5f97\u8bed\u8a00\u80fd\u529b\u65b9\u9762\u5b58\u5728\u5ef6\u8fdf\uff0c\u901a\u5e38\u57282\u81f33\u5c81\u65f6\u624d\u80fd\u8bf4\u8bdd\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/mosaicism\/?lang=zh-hans\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30e2\u30b6\u30a4\u30af\u3068\u306f\uff1f\u8d77\u3053\u308a\u3046\u308b\u3053\u3068\u3068NIPT\u306b\u304a\u3051\u308b\u6ce8\u610f\u70b9\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u300c\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad(NIPT)\u300d\u306f\u80ce\u5150\u306e\u67d3\u8272\u4f53\u306e\u7570\u5e38\u3092\u660e\u3089\u304b\u306b\u3059\u308b\u691c\u67fb\u3067\u3059\u3002\u3057\u304b\u3057\u3001NIPT\u306e\u691c\u67fb\u3082100%\u6b63\u3057\u3044\u7d50\u679c\u304c\u5f97\u3089\u308c\u308b\u3068\u306f\u9650\u308a\u307e\u305b\u3093...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c3\"><span class=\"ez-toc-section\" id=\"%E7%B4%A2%E6%89%98%E6%96%AF%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E7%97%85%E5%9B%A0\"><\/span><strong>\u7d22\u6258\u65af\u7efc\u5408\u75c7\u7684\u75c5\u56e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u7d22\u6258\u65af\u7efc\u5408\u75c7\u7531NSD1 (\u6838\u53d7\u4f53\u7ed3\u5408SET\u7ed3\u6784\u57df\u86cb\u767d1) \u57fa\u56e0\u7a81\u53d8 (\u5f02\u5e38) \u5f15\u8d77\u3002\u7ea690%\u7684\u60a3\u8005\u5df2\u53d1\u73b0\u8be5\u57fa\u56e0\u7684\u7a81\u53d8\u3002\u6b64\u5916\uff0c\u5728\u65e5\u672c\u4eba\u7fa4\u4e2d\u9996\u4e2a\u786e\u5b9a\u4e86\u5bfc\u81f4\u7d22\u6258\u65af\u7efc\u5408\u75c7\u7684NSD1\u7a81\u53d8,\u5e76\u4e14\u53d1\u73b0NSD1\u57fa\u56e0\u7684Haplo\u7f3a\u9677\u5b58\u5728\u4e8e\u8bb8\u591a\u4e34\u5e8a\u8bca\u65ad\u4e3a\u7d22\u6258\u65af\u7efc\u5408\u75c7\u7684\u60a3\u8005\u4e2d\u3002\u5177\u4f53\u800c\u8a00\uff0c\u5728\u65e5\u672c\u4eba\u7fa4\u4e2d\u89c2\u5bdf\u5230NSD 1\u57fa\u56e0\u76845 q 35\u5168\u5e38\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931\u3002\u53e6\u4e00\u65b9\u9762\uff0c NSD 1\u57fa\u56e0\u7684\u57fa\u56e0\u7a81\u53d8\u662f\u5916\u56fd\u4eba\u4e2d\u6700\u666e\u904d\u7684\u539f\u56e0,\u7ea6\u5360\u75c5\u4f8b\u768483%\u3002\u5176\u4f59\u7b26\u5408\u4e34\u5e8a\u6807\u51c6\u4f46\u6ca1\u6709NSD1\u7a81\u53d8\u7684\u60a3\u8005\u88ab\u8bca\u65ad\u4e3a\u7d22\u6258\u65af\u6837\u75c5\u6216\u7d22\u6258\u7efc\u5408\u75c7-2\u3002\u5bf9\u7d22\u6258\u65af\u6837\u75c5\u60a3\u8005 (\u65e0NSD1\u5f02\u5e38\u7684\u60a3\u8005) \u7684\u7814\u7a76\u53d1\u73b0\uff0c\u57285\u4f8b\u7d22\u6258\u65af\u7efc\u5408\u75c7\u60a3\u8005\u4e2d\u53d1\u73b0\u4e86NFIX\u57fa\u56e0 (\u6838\u56e0\u5b50I, X\u578b) \u7684\u7a81\u53d8,\u5e76\u4e14\u5728\u5177\u6709\u7d22\u6258\u65af\u795e\u7ecf\u5b66\u7279\u5f81\u76842\u540d\u60a3\u8005\u4e2d\u62a5\u9053\u4e86APC2 (\u7ed3\u80a0\u817a\u7624\u6027\u606f\u8089\u75c52) \u57fa\u56e0\u7684\u529f\u80fd\u4e27\u5931\u53d8\u5f02\u3002\u5728\u9488\u5bf9NSD1\u9633\u6027\u8005\u7684\u7814\u7a76\u4e2d\uff0c\u7814\u7a76\u4e86\u4e0e\u5404\u79cdNSD1\u5f02\u5e38\u76f8\u5173\u7684\u7279\u5b9a\u57fa\u56e0\u578b-\u8868\u578b\u4e4b\u95f4\u7684\u76f8\u5173\u6027\u3002\u4e5f\u5c31\u662f\u8bf4,\u4e0e\u5177\u6709\u76f8\u540c\u57fa\u56e0\u7a81\u53d8\u7684\u60a3\u8005\u76f8\u6bd4,\u5177\u6709NSD1\u57fa\u56e05.q.35\u5168\u5e38\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931\u7684\u60a3\u8005\u5177\u6709\u66f4\u4e0d\u660e\u663e\u7684\u8fc7\u5ea6\u589e\u957f\u548c\u66f4\u4e25\u91cd\u7684\u667a\u529b\u969c\u788d\u3002\u7531\u4e8e10%\u7684\u75c5\u4f8b\u4e2d\u4e0d\u5b58\u5728\u57fa\u56e0\u5f02\u5e38\uff0c\u4e34\u5e8a\u8bc4\u4f30\u4ecd\u88ab\u8ba4\u4e3a\u662f\u8bca\u65ad\u8fc7\u7a0b\u7684\u91cd\u8981\u90e8\u5206\u3002<\/p>\n\n\n\n<p>\u8be5\u7efc\u5408\u75c7\u5305\u62ec\u667a\u529b\u969c\u788d\u3001\u8111\u7ed3\u6784\u5f02\u5e38\u548c\u5178\u578b\u7684\u9762\u90e8\u7279\u5f81,\u4f46\u4e0d\u5305\u62ec\u5176\u4ed6\u7279\u5f81,\u5982\u9aa8\u9abc\u6216\u5fc3\u810f\u5f02\u5e38\u3002APC2\u57fa\u56e0\u5728\u795e\u7ecf\u7cfb\u7edf\u4e2d\u5177\u6709\u7279\u5f02\u6027\u8868\u8fbe,\u662fNSD1\u7684\u91cd\u8981\u4e0b\u6e38\u57fa\u56e0\u4e4b\u4e00\u3002\u6362\u53e5\u8bdd\u8bf4\uff0cNSD1\u57fa\u56e0\u7684\u7a81\u53d8\u4f1a\u5f71\u54cdAPC2\u57fa\u56e0\u5e76\u5bfc\u81f4\u795e\u7ecf\u5f02\u5e38\u3002<\/p>\n\n\n\n<p>\u7d22\u6258\u65af\u7efc\u5408\u75c7\u662f\u4e00\u79cd\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\u75c5,\u88ab\u8ba4\u4e3a\u662f\u7531\u57fa\u56e0\u7684\u4e00\u4e2a\u5f02\u5e38\u53d8\u4f53\u5f15\u8d77\u7684\u7279\u5b9a\u75be\u75c5\u3002\u5f02\u5e38\u7a81\u53d8\u57fa\u56e0\u53ef\u4ee5\u4ece\u7236\u6bcd\u9057\u4f20\uff0c\u4e5f\u53ef\u4ee5\u5728\u53d7\u7a81\u53d8 (\u53d8\u5316) \u57fa\u56e0\u5f71\u54cd\u7684\u4e2a\u4f53\u4e2d\u5f15\u8d77\u3002\u60a3\u6709\u5f02\u5e38\u7a81\u53d8\u57fa\u56e0\u7684\u7236\u6bcd\u4f20\u7ed9\u5b69\u5b50\u7684\u98ce\u9669\u5728\u6bcf\u6b21\u6000\u5b55\u4e2d\u4e3a50%,\u7537\u6027\u548c\u5973\u6027\u7684\u98ce\u9669\u76f8\u540c\u3002<\/p>\n\n\n\n<p>\u5df2\u77e5\u5927\u591a\u6570\u7d22\u6258\u65af\u7efc\u5408\u75c7\u60a3\u8005\u7531\u4e8e\u975e\u4eb2\u4ee3\u9057\u4f20\u7684\u65b0\u7a81\u53d8\u800c\u5177\u6709NSD1\u7a81\u53d8\u3002\u5982\u679c\u7236\u6bcd\u6ca1\u6709\u60a3\u75c5\uff0c\u4e0b\u4e00\u4e2a\u5b69\u5b50\u60a3\u8be5\u7efc\u5408\u75c7\u7684\u98ce\u9669\u975e\u5e38\u4f4e (\u4f4e\u4e8e1%) \u3002\u5df2\u77e5\u7d22\u6258\u65af\u7efc\u5408\u75c7\u7684\u75c7\u72b6\u56e0\u4eba\u800c\u5f02,\u5373\u4f7f\u5177\u6709\u76f8\u540c\u7684NSD1\u57fa\u56e0\u7a81\u53d8\u3002<\/p>\n\n\n\n<p>\u53e6\u4e00\u65b9\u9762\uff0c \u7d22\u6258\u65af\u7efc\u5408\u75c7\u4e5f\u88ab\u8ba4\u4e3a\u662f\u5e38\u67d3\u8272\u4f53\u9690\u6027\u75be\u75c5\u3002\u9690\u6027\u9057\u4f20\u6027\u75be\u75c5\u662f\u7531\u7236\u6bcd\u9057\u4f20\u4e86\u67d0\u4e2a\u57fa\u56e0\u7684\u5f02\u5e38\u53d8\u5f02\u4f53\u5f15\u8d77\u7684\u3002\u5982\u679c\u4e00\u4e2a\u6b63\u5e38\u57fa\u56e0\u548c\u4e00\u4e2a\u5f02\u5e38\u7a81\u53d8\u57fa\u56e0\u88ab\u7ee7\u627f\uff0c\u5219\u8be5\u4eba\u6210\u4e3a\u8be5\u75be\u75c5\u7684\u643a\u5e26\u8005,\u901a\u5e38\u6ca1\u6709\u75c7\u72b6\u3002\u643a\u5e26\u8005\u7684\u7236\u6bcd\u90fd\u7ee7\u627f\u4e86\u5f02\u5e38\u7684\u7a81\u53d8\u57fa\u56e0\uff0c\u6bcf\u6b21\u6000\u5b55\u5f71\u54cd\u5b69\u5b50\u7684\u98ce\u9669\u4e3a25%\u3002\u6bcf\u6b21\u6000\u5b55\uff0c\u4f5c\u4e3a\u643a\u5e26\u8005\u7684\u5b69\u5b50\u51fa\u751f\u7684\u98ce\u9669\u4e3a50%\u3002\u513f\u7ae5\u4ece\u7236\u6bcd\u53cc\u65b9\u7ee7\u627f\u6b63\u5e38\u57fa\u56e0\u7684\u6982\u7387\u4e3a25%\uff0c\u7537\u6027\u548c\u5973\u6027\u7684\u98ce\u9669\u76f8\u540c\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"600\" height=\"400\" src=\"\/nipt\/wp-content\/uploads\/2022\/09\/sotos-syndrome02-1.jpg\" alt=\"\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306e\u539f\u56e0\" class=\"wp-image-41793\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\" id=\"c4\"><span class=\"ez-toc-section\" id=\"%E7%B4%A2%E6%89%98%E6%96%AF%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E8%AF%8A%E6%96%AD\"><\/span><strong>\u7d22\u6258\u65af\u7efc\u5408\u75c7\u7684\u8bca\u65ad<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5c1a\u672a\u53d1\u73b0\u7d22\u6258\u65af\u7efc\u5408\u75c7\u7684\u751f\u7269\u5316\u5b66\u6807\u5fd7\u7269\u3002\u56e0\u6b64\uff0c\u8bca\u65ad\u662f\u6839\u636e\u4e34\u5e8a\u8bc1\u636e\u505a\u51fa\u7684\u3002\u6700\u5178\u578b\u7684\u8868\u73b0\u662f\u9885\u9762\u7684\u5f62\u6001,\u589e\u957f\u8fc7\u5feb\u548c\u53d1\u80b2\u8fdf\u7f13\u3002\u9885\u9762\u5f62\u6001\u662f\u6700\u5177\u7279\u5f81\u6027\u7684\uff0c\u6781\u5c11 (\u7ea61%) \u3002\u513f\u7ae5\u548c\u9752\u5c11\u5e74\u7684\u8eab\u9ad8\u53ef\u80fd\u4e0d\u592a\u5927\uff0c 10~15%\u7684\u60a3\u8005\u53ef\u80fd\u6ca1\u6709\u53d1\u80b2\u8fdf\u7f13\u3002\u6b64\u5916\uff0c 76~86%\u7684\u60a3\u8005\u6709\u9aa8\u9abc\u5e74\u9f84\u589e\u957f,\u4f46\u5df2\u77e5\u6709\u6548\u4f46\u65e0\u7279\u5f02\u6027\u3002\u6b64\u5916\uff0c\u8111\u7578\u5f62 (\u5982\u8111\u79ef\u6c34) \u572860%~80%\u7684\u60a3\u8005\u4e2d\u5b58\u5728,\u4f46\u4e0d\u80fd\u7528\u4e8e\u8bca\u65ad,\u800c\u662f\u975e\u7279\u5f02\u6027\u7684\u3002<\/p>\n\n\n\n<p>\u57fa\u56e0\u8bca\u65ad\u901a\u8fc7\u4e00\u79cd\u7b80\u5355\u53ef\u9760\u7684\u65b9\u6cd5\u8fdb\u884c\uff0c\u8be5\u65b9\u6cd5\u4f7f\u7528FISH (\u8367\u5149\u539f\u4f4d\u6df7\u5408) \u5206\u6790\u6216MLPA (\u591a\u91cd\u8fde\u63a5\u4f9d\u8d56\u6027\u63a2\u9488\u6269\u589e) \u68c0\u6d4b\u67d3\u8272\u4f535q35\u4e0a\u7684\u6240\u6709\u5e38\u67d3\u8272\u4f53\u7684\u5168\u90e8\u533a\u57df\u90e8\u5206\u7f3a\u5931\u548c\u90e8\u5206NSD1\u57fa\u56e0\u7f3a\u5931,\u4ee5\u68c0\u6d4b\u6240\u6709\u5e38\u67d3\u8272\u4f53\u7684\u5168\u90e8\u533a\u57df\u90e8\u5206\u7f3a\u5931\u3002\u6b64\u5916\uff0c\u636e\u8bf4\u901a\u8fc7\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u8fdb\u884c\u7684DNA\u5206\u6790\u53ef\u4ee5\u786e\u5b9a\u7279\u5b9a\u7684NSD1\u57fa\u56e0\u7a81\u53d8\u3002\u5982\u4e0a\u6240\u8ff0\uff0c\u6ca1\u6709NSD1\u57fa\u56e0\u7a81\u53d8\u7684\u60a3\u8005\u8fd8\u9700\u8981\u8fdb\u884cNFIX\u548cAPC2\u57fa\u56e0\u7a81\u53d8\u7684\u57fa\u56e0\u68c0\u6d4b\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/wolf-hirschhorn\/?lang=zh-hans\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30a6\u30a9\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7\u5019\u7fa4\u3068\u306f\uff1f\u7279\u5fb4\u3084\u539f\u56e0\u3001\u75c7\u72b6\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">4\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306b\u4f4d\u7f6e\u3059\u308b\u907a\u4f1d\u5b50\u7fa4\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u75be\u60a3\u300c4p\u6b20\u5931\u75c7\u5019\u7fa4\u300d(\u30a6\u30a9\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7\u5019\u7fa4)\u3002\u56fd\u306e\u6307\u5b9a\u96e3\u75c5\u306b\u8a8d\u3081\u3089...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c5\"><span class=\"ez-toc-section\" id=\"%E5%9C%A8%E6%97%A5%E6%9C%AC%E7%B4%A2%E6%89%98%E6%96%AF%E7%BB%BC%E5%90%88%E5%BE%81%E7%9A%84%E8%AF%8A%E6%96%AD%E6%A0%87%E5%87%86%E6%97%A5%E6%9C%AC\"><\/span><strong>\u5728\u65e5\u672c\u7d22\u6258\u65af\u7efc\u5408\u5f81\u7684\u8bca\u65ad\u6807\u51c6\u65e5\u672c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5982\u679c\u60a3\u8005\u6709\u4ee5\u4e0b1~3\u4e2a\u4e3b\u8981\u4e34\u5e8a\u75c7\u72b6\uff0c\u5e76\u5728\u81f4\u75c5\u57fa\u56e0 (\u5982NSD1\u57fa\u56e0\u7b49) \u4e2d\u51fa\u73b0\u70b9\u72b6\u7a81\u53d8,\u6216\u5728\u5305\u542bNSD1\u76845\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u4e0a\u51fa\u73b0\u7f3a\u5931,\u5219\u53ef\u660e\u786e\u8bca\u65ad\u3002\u5982\u4e0a\u6240\u8ff0\uff0c\u4e5f\u6709\u672a\u53d1\u73b0\u53d8\u5f02\u6216\u7f3a\u5931\u7684\u60c5\u51b5\uff0c\u5f53\u6ee1\u8db3\u4ee5\u4e0b\u75c7\u72b6\u4e2d\u7684\u5168\u90e81~4\u4e2a\u65f6\uff0c\u4e34\u5e8a\u8bca\u65ad\u4e3a\u7d22\u6258\u65af\u7efc\u5408\u75c7\u3002<\/p>\n\n\n\n<p>\u2160\uff0e\u4e3b\u8981\u4e34\u5e8a\u75c7\u72b6<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\uff11\uff0e\u5a74\u30fb\u5e7c\u513f\u5927\u5934\u75c7 (\u22652SD)<\/li>\n\n\n\n<li>\uff12\uff0e\u5a74\u30fb\u5e7c\u513f\u8fc7\u5ea6\u751f\u957f (\u22652SD)<\/li>\n\n\n\n<li>\uff13\uff0e\u5177\u6709\u5934\u9885\u5927\u3001\u5934\u8db3\u5927\u3001\u524d\u989d\u4e0b\u988c\u7a81\u51fa\u3001\u4e0a\u989a\u7a81\u51fa\u3001\u773c\u7751\u659c\u4e0b\u548c\u773c\u8ddd\u5206\u5f00\u7b49\u7279\u5f81<\/li>\n\n\n\n<li>\uff14\uff0e\u667a\u529b\u53d1\u80b2\u8fdf\u7f13<\/li>\n<\/ul>\n\n\n\n<p>\u203bSD (Standard Deviation) \u8868\u793a\u6807\u51c6\u504f\u5dee,2SD\u8868\u793a\u5305\u542b\u5e73\u5747\u503c\u524d\u540e\u7ea695%\u6570\u636e\u7684\u8303\u56f4\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c6\"><span class=\"ez-toc-section\" id=\"%E6%97%A5%E6%9C%AC%E5%9B%BD%E5%86%85%E7%B4%A2%E6%89%98%E6%96%AF%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E4%B8%A5%E9%87%8D%E7%A8%8B%E5%BA%A6%E5%88%86%E7%B1%BB\"><\/span><strong>\u65e5\u672c\u56fd\u5185\u7d22\u6258\u65af\u7efc\u5408\u75c7\u7684\u4e25\u91cd\u7a0b\u5ea6\u5206\u7c7b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u4e25\u91cd\u7a0b\u5ea6\u6839\u636e\u4ee5\u4e0b\u6807\u51c6\u8fdb\u884c\u5206\u7c7b\u3002<\/p>\n\n\n\n<p>\uff11\uff0e\u513f\u7ae5\u75c5\u4f8b (\u672a\u6ee118\u5c81)<\/p>\n\n\n\n<p>\u4ee5\u513f\u7ae5\u6162\u6027\u7279\u5b9a\u75be\u75c5\u7684\u72b6\u6001\u7a0b\u5ea6\u4e3a\u51c6\u3002<\/p>\n\n\n\n<p>&nbsp;\uff12\uff0e\u6210\u4eba\u75c5\u4f8b<\/p>\n\n\n\n<p>\u7b26\u5408\u4ee5\u4e0b1) ~4) \u4e2d\u4efb\u610f\u4e00\u9879\u7684\u4eba\u4f5c\u4e3a\u5bf9\u8c61\u3002<\/p>\n\n\n\n<p>\uff11\uff09\u96be\u6cbb\u6027\u766b\u75eb\u7684\u60c5\u51b5:\u4e3b\u8981\u7684\u6297\u766b\u75eb\u836f\u72692~3\u79cd\u4ee5\u4e0a\uff0c\u91c7\u7528\u5355\u836f\u6216\u591a\u836f\u5e76\u7528\u4e14\u5206\u91cf\u5145\u8db3,\u6cbb\u75972\u5e74\u4ee5\u4e0a,\u53d1\u4f5c\u4ecd\u4e0d\u80fd\u5f97\u5230\u6291\u52361\u5e74\u4ee5\u4e0a,\u6210\u4e3a\u65e5\u5e38\u751f\u6d3b\u7684\u969c\u788d\u7684\u72b6\u6001 (\u6839\u636e\u65e5\u672c\u795e\u7ecf\u5b66\u4f1a\u7684\u5b9a\u4e49) \u3002<\/p>\n\n\n\n<p>\uff12\uff09\u60a3\u6709\u5148\u5929\u6027\u5fc3\u810f\u75c5\uff0c\u7ecf\u836f\u7269\u548c\u624b\u672f\u6cbb\u7597,\u5728NYHA\u5206\u7c7b\u4e2d\u8fbe\u5230II\u5ea6\u6216\u66f4\u9ad8\u3002\u793a\u4f8b;II\u5ea6(II\u5ea6;\u8f7b\u5ea6\u81f3\u4e2d\u5ea6\u9650\u5236\u4f53\u529b\u6d3b\u52a8\u3002\u5728\u9759\u6b62\u6216\u8f7b\u5ea6\u4f53\u529b\u6d3b\u52a8\u65f6\u65e0\u75c7\u72b6\u3002\u5728\u65e5\u5e38\u52b3\u52a8\u4e2d,\u8f83\u5f3a\u7684\u52b3\u52a8 (\u4f8b\u5982,\u722c\u697c\u68af\u3001\u722c\u5761\u7b49) \u4f1a\u4ea7\u751f\u75b2\u52b3\u3001\u5fc3\u60b8\u3001\u547c\u5438\u56f0\u96be\u3001\u6655\u53a5\u6216\u5fc3\u7ede\u75db (\u80f8\u75db) \u3002)<\/p>\n\n\n\n<p>\uff13\uff09\u7528\u4e8e\u6c14\u7ba1\u5207\u5f00,\u80a0\u5916\u8425\u517b\u6444\u5165 (\u7ba1\u9972,\u4e2d\u5fc3\u9759\u8109\u5582\u517b\u7b49) \u548c\u547c\u5438\u673a\u3002<\/p>\n\n\n\n<p>\uff14\uff09\u4f34\u6709\u80be\u8870\u7aed (CKD\u4e25\u91cd\u7a0b\u5ea6\u5206\u7ea7\u70ed\u56fe\u4e3a\u7ea2\u8272) \u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/klinefelter-syndrome\/?lang=zh-hans\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30af\u30e9\u30a4\u30f3\u30d5\u30a7\u30eb\u30bf\u30fc\u75c7\u5019\u7fa4\uff0847,XXY\uff09\u3068\u306f\uff1f\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u30af\u30e9\u30a4\u30f3\u30d5\u30a7\u30eb\u30bf\u30fc\u75c7\u5019\u7fa4\u3068\u306f\u3001\u7537\u306e\u5b50\u306b\u307f\u3089\u308c\u308b\u67d3\u8272\u4f53\u7570\u5e38\u306e\u3053\u3068\u3067\u3059\u3002\u6027\u67d3\u8272\u4f53\u3067\u3042\u308bX\u67d3\u8272\u4f53\u306e\u904e\u5270\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u30af...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c7\"><span class=\"ez-toc-section\" id=\"%E7%B4%A2%E6%89%98%E6%96%AF%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E6%B2%BB%E7%96%97%E4%B8%8E%E6%A3%80%E6%9F%A5\"><\/span><strong>\u7d22\u6258\u65af\u7efc\u5408\u75c7\u7684\u6cbb\u7597\u4e0e\u68c0\u67e5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u7d22\u6258\u65af\u7efc\u5408\u75c7\u7684\u6cbb\u7597\u662f\u9488\u5bf9\u4e2a\u522b\u60a3\u8005\u660e\u663e\u51fa\u73b0\u7684\u7279\u5b9a\u75c7\u72b6\u3002\u7531\u4e8e\u7d22\u6258\u65af\u7efc\u5408\u75c7\u4f1a\u51fa\u73b0\u5404\u79cd\u75c7\u72b6,\u56e0\u6b64\u6cbb\u7597\u6709\u65f6\u9700\u8981\u4e13\u5bb6\u56e2\u961f\u7684\u534f\u8c03\u4ecb\u5165\u3002\u4f8b\u5982\uff0c\u513f\u79d1\u533b\u751f\u3001\u513f\u79d1\u5185\u5206\u6ccc\u533b\u751f\u3001\u9057\u4f20\u4e13\u5bb6\u3001\u795e\u7ecf\u79d1\u533b\u751f\u3001\u5916\u79d1\u533b\u751f\u3001\u6574\u5f62\u5916\u79d1\u533b\u751f\u3001\u773c\u79d1\u533b\u751f\u3001\u7269\u7406\u6cbb\u7597\u5e08\u548c\u5176\u4ed6\u533b\u7597\u4e13\u4e1a\u4eba\u5458\u5e94\u805a\u96c6\u5728\u4e00\u8d77\uff0c\u5bf9\u6cbb\u7597\u8fdb\u884c\u7cfb\u7edf\u548c\u5168\u9762\u7684\u89c4\u5212\u3002<\/p>\n\n\n\n<p>\u5982\u679c\u513f\u7ae5\u88ab\u8bca\u65ad\u60a3\u6709\u7d22\u6258\u65af\u7efc\u5408\u75c7,\u5e94\u8fdb\u884c\u5fc3\u810f\u68c0\u67e5\u548c\u8d85\u58f0\u6ce2\u68c0\u67e5,\u5982\u679c\u53d1\u73b0\u5f02\u5e38,\u5219\u5e94\u54a8\u8be2\u76f8\u5173\u4e13\u5bb6\u3002\u6b64\u5916\uff0c\u60a3\u6709\u7d22\u6258\u65af\u7efc\u5408\u75c7\u7684\u513f\u7ae5\u9700\u8981\u6bcf1~2\u5e74\u8fdb\u884c\u4e00\u6b21\u5b8c\u6574\u7684\u68c0\u67e5,\u5305\u62ec\u810a\u67f1\u4fa7\u51f8\u7684\u80cc\u90e8\u68c0\u67e5\u3001\u773c\u90e8\u68c0\u67e5\u3001\u8840\u538b\u6d4b\u91cf\u548c\u8bed\u8a00\u80fd\u529b\u8bc4\u4f30\u3002<\/p>\n\n\n\n<p>\u4e34\u5e8a\u8bc4\u4f30\u5e94\u8be5\u5728\u53d1\u80b2\u65e9\u671f\u548c\u6301\u7eed\u6027\u8fdb\u884c,\u4ee5\u6709\u52a9\u4e8e\u786e\u5b9a\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u4f4e\u4e0b\u7684\u72b6\u51b5\u548c\u7a0b\u5ea6\u3002\u8fd9\u4e9b\u8bc4\u4f30\u548c\u65e9\u671f\u5e72\u9884\u5df2\u88ab\u8bc1\u660e\u53ef\u5e2e\u52a9\u786e\u4fdd\u91c7\u53d6\u9002\u5f53\u63aa\u65bd\u6765\u5e2e\u52a9\u60a3\u8005\u83b7\u5f97\u6700\u5927\u7684\u6cbb\u7597\u53ef\u80fd\u6027\u3002\u5bf9\u513f\u7ae5\u6709\u76ca\u7684\u6cbb\u7597\u5305\u62ec\u793e\u4f1a\u652f\u6301\u3001\u7269\u7406\u6cbb\u7597\u3001\u804c\u4e1a\u6cbb\u7597\u3001\u8bed\u8a00\u6cbb\u7597\u548c\u9002\u5e94\u6027\u7269\u7406\u6559\u80b2\u3002<\/p>\n","protected":false},"excerpt":{"rendered":"\u7d22\u6258\u65af\u7efc\u5408\u75c7\u7684\u7279\u5f81 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/sotos-syndrome\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":5225,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[14],"tags":[],"class_list":["post-44336","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\/44336","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=44336"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/44336\/revisions"}],"predecessor-version":[{"id":118335,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/44336\/revisions\/118335"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/5225"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=44336"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=44336"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=44336"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}