{"id":84243,"date":"2024-11-15T15:58:55","date_gmt":"2024-11-15T06:58:55","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/"},"modified":"2025-10-10T18:03:18","modified_gmt":"2025-10-10T09:03:18","slug":"17p13-1-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/?lang=zh-hans","title":{"rendered":"17p13.1 \u7f3a\u5931\u7efc\u5408\u5f81\uff08\u7c73\u52d2-\u8fea\u514b\u7efc\u5408\u5f81\uff09\/\u7c73\u52d2-\u8fea\u514b\u65e0\u8111\u7578\u5f62\u7efc\u5408\u5f81 (MDLS)\uff08\u4e22\u5931\uff09"},"content":{"rendered":"\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/?lang=zh-hans\/#1%E3%80%81%E5%8F%91%E7%97%85%E5%8E%9F%E5%9B%A0\" >1\u3001\u53d1\u75c5\u539f\u56e0<\/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\/17p13-1-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/?lang=zh-hans\/#2_%E7%97%87%E7%8A%B6\" >2. \u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/?lang=zh-hans\/#3_%E6%B2%BB%E7%96%97\" >3. \u6cbb\u7597<\/a><\/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\/17p13-1-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/?lang=zh-hans\/#4_%E9%A2%84%E5%90%8E\" >4. \u9884\u540e<\/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\/17p13-1-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/?lang=zh-hans\/#5_%E7%88%B6%E6%AF%8D%E7%9A%84%E8%B4%9F%E6%8B%85\" >5. \u7236\u6bcd\u7684\u8d1f\u62c5<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1%E3%80%81%E5%8F%91%E7%97%85%E5%8E%9F%E5%9B%A0\"><\/span>1\u3001\u53d1\u75c5\u539f\u56e0<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u7c73\u52d2-\u8fea\u514b\u7efc\u5408\u5f81 (MDS) \u548c\u7c73\u52d2-\u8fea\u514b\u65e0\u8111\u7578\u5f62\u7efc\u5408\u5f81 (MDLS) \u662f\u7531 17 \u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff0817p13.1 \u533a\u57df\uff09\u4e0a\u7684\u57fa\u56e0\u7f3a\u5931\u5f15\u8d77\u7684\u3002\u8fd9\u4f1a\u5bfc\u81f4\u5927\u8111\u53d1\u80b2\u5f02\u5e38\u548c\u5927\u8111\u76ae\u5c42\u5f02\u5e38\uff0c\u79f0\u4e3a\u65e0\u8111\u7578\u5f62\u3002\u901a\u5e38\uff0c\u795e\u7ecf\u7ec6\u80de\u5728\u5927\u8111\u5f62\u6210\u8fc7\u7a0b\u4e2d\u4f1a\u9519\u4f4d\uff0c\u4e25\u91cd\u5f71\u54cd\u795e\u7ecf\u53d1\u80b2\u548c\u529f\u80fd\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%97%87%E7%8A%B6\"><\/span>2. \u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e0\u8111\u7578\u5f62<\/strong>\uff1a\u5927\u8111\u8868\u9762\u5149\u6ed1\uff0c\u7f3a\u4e4f\u901a\u5e38\u7684\u51f9\u69fd\u548c\u8f6c\u5f2f\uff0c\u5bfc\u81f4\u4e25\u91cd\u7684\u667a\u529b\u969c\u788d\u3002<\/li>\n\n\n\n<li><strong>\u53d1\u80b2\u8fdf\u7f13<\/strong>\uff1a\u8fd0\u52a8\u548c\u8bed\u8a00\u53d1\u80b2\u4e25\u91cd\u8fdf\u7f13\u3002<\/li>\n\n\n\n<li><strong>\u766b\u75eb\u53d1\u4f5c<\/strong>\uff1a\u4ece\u65b0\u751f\u513f\u9636\u6bb5\u5f00\u59cb\uff0c\u4e25\u91cd\u7684\u766b\u75eb\u53d1\u4f5c\u53ef\u80fd\u4f1a\u9891\u7e41\u53d1\u751f\u3002<\/li>\n\n\n\n<li><strong>\u72ec\u7279\u7684\u9762\u90e8\u7279\u5f81<\/strong>\uff1a\u53ef\u80fd\u4f1a\u770b\u5230\u72ec\u7279\u7684\u9762\u90e8\u7279\u5f81\uff0c\u4f8b\u5982\u9ad8\u989d\u5934\u3001\u62c9\u957f\u7684\u8138\u3001\u77ed\u9f3b\u5b50\u548c\u8584\u5634\u5507\u3002<\/li>\n\n\n\n<li><strong>\u808c\u5f20\u529b\u5f02\u5e38<\/strong>\uff1a\u53ef\u80fd\u4f1a\u51fa\u73b0\u808c\u8089\u65e0\u529b\u548c\u808c\u5f20\u529b\u5f02\u5e38\u3002<\/li>\n\n\n\n<li><strong>\u5185\u810f\u5668\u5b98\u5f02\u5e38<\/strong>\uff1a\u4e00\u4e9b\u60a3\u8005\u62a5\u544a\u6709\u5fc3\u810f\u548c\u80be\u810f\u5f02\u5e38\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E6%B2%BB%E7%96%97\"><\/span>3. \u6cbb\u7597<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u766b\u75eb\u6cbb\u7597<\/strong>\uff1a\u6cbb\u7597\u4f7f\u7528\u6297\u766b\u75eb\u836f\u7269\u6765\u51cf\u5c11\u766b\u75eb\u53d1\u4f5c\u7684\u9891\u7387\u3002<\/li>\n\n\n\n<li><strong>\u53d1\u80b2\u652f\u6301<\/strong>\uff1a\u901a\u8fc7\u7269\u7406\u6cbb\u7597\u3001\u804c\u4e1a\u6cbb\u7597\u3001\u8a00\u8bed\u6cbb\u7597\u7b49\u63d0\u4f9b\u53d1\u80b2\u652f\u6301\uff0c\u4f46\u6cbb\u7597\u6548\u679c\u53ef\u80fd\u4f1a\u6839\u636e\u8fdb\u5c55\u7a0b\u5ea6\u800c\u6709\u6240\u4e0d\u540c\u3002<\/li>\n\n\n\n<li><strong>\u8425\u517b\u7ba1\u7406<\/strong>\uff1a\u53ef\u80fd\u4f1a\u51fa\u73b0\u5582\u517b\u56f0\u96be\uff0c\u53ef\u80fd\u9700\u8981\u8425\u517b\u7ba1\u7406\u3002<\/li>\n\n\n\n<li><strong>\u533b\u7597\u56e2\u961f\u7efc\u5408\u7ba1\u7406<\/strong>\uff1a\u4e0e\u795e\u7ecf\u5185\u79d1\u3001\u5fc3\u810f\u5185\u79d1\u3001\u6d88\u5316\u5185\u79d1\u7b49\u591a\u4e2a\u4e13\u79d1\u533b\u5e08\u534f\u540c\u62a4\u7406\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E9%A2%84%E5%90%8E\"><\/span>4. \u9884\u540e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u7c73\u52d2-\u8fea\u514b\u7efc\u5408\u5f81\u662f\u4e00\u79cd\u4e25\u91cd\u7684\u75be\u75c5\uff0c\u751f\u547d\u9884\u540e\u5f80\u5f80\u5f88\u4e25\u5cfb\u3002\u9700\u8981\u6301\u7eed\u6cbb\u7597\u766b\u75eb\u53d1\u4f5c\u548c\u6cbb\u7597\u5168\u8eab\u5e76\u53d1\u75c7\uff0c\u8fd9\u53ef\u80fd\u4f1a\u5f71\u54cd\u60a3\u8005\u7684\u5bff\u547d\u3002\u5b83\u901a\u5e38\u4f34\u6709\u4e25\u91cd\u7684\u667a\u529b\u969c\u788d\u548c\u8eab\u4f53\u95ee\u9898\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E7%88%B6%E6%AF%8D%E7%9A%84%E8%B4%9F%E6%8B%85\"><\/span>5. \u7236\u6bcd\u7684\u8d1f\u62c5<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8fd9\u79cd\u75be\u75c5\u9700\u8981\u957f\u671f\u7684\u6cbb\u7597\u548c\u62a4\u7406\uff0c\u7ed9\u60a3\u8005\u5e26\u6765\u5de8\u5927\u7684\u7ecf\u6d4e\u548c\u5fc3\u7406\u8d1f\u62c5\u3002\u7236\u6bcd\u6bcf\u5929\u9700\u8981\u82b1\u8d39\u5927\u91cf\u7684\u65f6\u95f4\u6765\u7167\u987e\u5b69\u5b50\uff0c\u8fd9\u9700\u8981\u6574\u4e2a\u5bb6\u5ead\u7684\u652f\u6301\u7cfb\u7edf\u3002\u4e0e\u533b\u7597\u56e2\u961f\u548c\u652f\u6301\u7ec4\u7ec7\u5408\u4f5c\u4ee5\u51cf\u8f7b\u5bb6\u5ead\u8d1f\u62c5\u975e\u5e38\u91cd\u8981\u3002<\/p>\n","protected":false},"excerpt":{"rendered":"1\u3001\u53d1\u75c5\u539f\u56e0 \u7c73\u52d2-\u8fea\u514b\u7efc\u5408\u5f81 (MDS&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":88625,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[14],"tags":[],"class_list":["post-84243","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\/84243","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=84243"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/84243\/revisions"}],"predecessor-version":[{"id":117910,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/84243\/revisions\/117910"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/88625"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=84243"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=84243"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=84243"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}