{"id":111436,"date":"2024-11-14T12:02:47","date_gmt":"2024-11-14T03:02:47","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q33-1_deletion_syndrome\/"},"modified":"2025-08-21T17:50:55","modified_gmt":"2025-08-21T08:50:55","slug":"2q33-1_deletion_syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q33-1_deletion_syndrome\/?lang=zh-hans","title":{"rendered":"2q33.1\u5fae\u7f3a\u5931\u7efc\u5408\u5f81 (2q33.1 Microdeletion Syndrome)"},"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_82_2 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\/2q33-1_deletion_syndrome\/?lang=zh-hans\/#%E4%B8%AD%E6%96%87%E6%A6%82%E8%A6%81\" >\u4e2d\u6587\u6982\u8981<\/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\/2q33-1_deletion_syndrome\/?lang=zh-hans\/#%E5%88%AB%E5%90%8D\" >\u522b\u540d<\/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\/2q33-1_deletion_syndrome\/?lang=zh-hans\/#%E7%96%BE%E7%97%85%E6%A6%82%E8%BF%B0\" >\u75be\u75c5\u6982\u8ff0<\/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\/2q33-1_deletion_syndrome\/?lang=zh-hans\/#%E7%97%85%E5%9B%A0%E4%B8%8E%E8%AF%8A%E6%96%AD\" >\u75c5\u56e0\u4e0e\u8bca\u65ad<\/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\/2q33-1_deletion_syndrome\/?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-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q33-1_deletion_syndrome\/?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-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q33-1_deletion_syndrome\/?lang=zh-hans\/#%E6%9B%B4%E5%A4%9A%E4%BF%A1%E6%81%AF%E8%B5%84%E6%BA%90\" >\u66f4\u591a\u4fe1\u606f\u8d44\u6e90<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q33-1_deletion_syndrome\/?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=\"%E4%B8%AD%E6%96%87%E6%A6%82%E8%A6%81\"><\/span>\u4e2d\u6587\u6982\u8981<span class=\"ez-toc-section-end\"><\/span><\/h2><p>2q33.1\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u53c8\u79f0Glass\u7efc\u5408\u5f81\u6216SATB2\u76f8\u5173\u7efc\u5408\u5f81\uff09 \u662f\u4e00\u79cd\u6781\u4e3a\u7f55\u89c1\u7684\u9057\u4f20\u75c5\uff0c\u4e3b\u8981\u7531SATB2\u57fa\u56e0\u7f3a\u5931\u6216\u7a81\u53d8\u5f15\u8d77\u3002\u5178\u578b\u75c7\u72b6\u5305\u62ec\u4e2d\u91cd\u5ea6\u667a\u529b\u969c\u788d\u3001\u8bed\u8a00\u4e25\u91cd\u53d7\u9650\u3001\u9762\u988c\u7578\u5f62\uff08\u5982\u816d\u88c2\u3001\u5c0f\u4e0b\u988c\uff09\u3001\u7259\u9f7f\u95ee\u9898\u53ca\u884c\u4e3a\u5f02\u5e38\uff08\u5982\u81ea\u95ed\u3001\u653b\u51fb\u3001\u81ea\u4f24\u7b49\uff09\u3002\u5176\u4ed6\u8868\u73b0\u5305\u62ec\u766b\u75eb\u3001\u9aa8\u9abc\u5f02\u5e38\u548c\u4f4e\u808c\u5f20\u529b\u3002\u8be5\u7efc\u5408\u5f81\u75c5\u56e0\u5728\u4e8eSATB2\u57fa\u56e0\u529f\u80fd\u4e27\u5931\uff0c\u5e72\u6270\u5927\u8111\u3001\u9aa8\u9abc\u4e0e\u57fa\u56e0\u8c03\u63a7\u7cfb\u7edf\u7684\u6b63\u5e38\u53d1\u80b2\u3002\u8bca\u65ad\u901a\u5e38\u4f9d\u9760\u57fa\u56e0\u68c0\u6d4b\uff0c\u90e8\u5206\u5b55\u5987\u53ef\u901a\u8fc7\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09\u7b5b\u67e5\u3002\u76ee\u524d\u65e0\u6839\u6cbb\u65b9\u6cd5\uff0c\u6cbb\u7597\u4ee5\u591a\u5b66\u79d1\u652f\u6301\u6027\u5e72\u9884\u4e3a\u4e3b\uff0c\u76ee\u6807\u4e3a\u6539\u5584\u751f\u6d3b\u8d28\u91cf\u3002\u7ba1\u7406\u5305\u62ec\u65e9\u671f\u5e72\u9884\u3001\u8bed\u8a00\u53ca\u8fd0\u52a8\u6cbb\u7597\u3001\u884c\u4e3a\u652f\u6301\u3001\u766b\u75eb\u7ba1\u7406\u53ca\u9aa8\u9abc\u4e0e\u7259\u9f7f\u62a4\u7406\u7b49\u3002<\/p><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%88%AB%E5%90%8D\"><\/span><strong>\u522b\u540d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Glass\u7efc\u5408\u5f81\u203b<br><\/li>\n\n\n\n<li>SATB2\u76f8\u5173\u7efc\u5408\u5f81 (SAS)<br><\/li>\n\n\n\n<li>\u56e0\u67d3\u8272\u4f53\u91cd\u6392\u5bfc\u81f4\u7684SATB2\u76f8\u5173\u7efc\u5408\u5f81<br><\/li>\n<\/ul>\n\n\n\n<p>\u203b Glass\u7efc\u5408\u5f81\u7531\u67d3\u8272\u4f532q32-q33\u533a\u57df\u7684\u6742\u5408\u6027\u95f4\u8d28\u6027\u7f3a\u5931\u5f15\u8d77\u3002\u6709\u65f6\u4e5f\u53ef\u80fd\u7531\u4f4d\u4e8e2q33.1\u7684SATB2\u57fa\u56e0\u7684\u6742\u5408\u6027\u7a81\u53d8\u5bfc\u81f4\uff0c\u800c\u8be5\u57fa\u56e0\u6b63\u597d\u4f4d\u4e8eGlass\u7efc\u5408\u5f81\u7684\u67d3\u8272\u4f53\u533a\u57df\u5185\u3002<\/p>\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=\"18\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/2q32q33-glass-hgtIdeo_genome_asia_3506ef_d4a30-1024x18.png\" alt=\"2q32q33 glass\" class=\"wp-image-89599\"\/><\/figure><\/div>\n\n\n<div style=\"height:14px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>Glass\u7efc\u5408\u5f81\u7684\u7279\u5f81\u5305\u62ec\u4e25\u91cd\u667a\u529b\u969c\u788d\u3001\u5c0f\u5934\u7578\u5f62\u548c\u9885\u9762\u53d1\u80b2\u5f02\u5e38\uff0c\u7531\u67d3\u8272\u4f532q32.2-q33.1\u7684\u95f4\u8d28\u6027\u7f3a\u5931\u6240\u81f4\u3002\u8be5\u7efc\u5408\u5f81\u9996\u6b21\u4e8e1989\u5e74\u88ab\u62a5\u9053\u300216\u5e74\u540e\uff0c\u53c8\u67094\u4f8b\u75c5\u4f8b\u88ab\u63cf\u8ff0\uff1a\u60a3\u8005\u8868\u73b0\u4e3a\u53d1\u80b2\u8fdf\u7f13\uff08\u8eab\u4f53\u548c\u667a\u529b\uff09\u3001\u9762\u5bb9\u5f02\u5e38\uff0c\u4ee5\u53ca\u884c\u4e3a\u7279\u5f81\uff0c\u5982\u6df7\u4e71\u4e0e\u5174\u594b\u4ea4\u66ff\u51fa\u73b0\uff0c\u4f34\u968f\u653b\u51fb\u6027\u3001\u7126\u8651\u548c\u81ea\u4f24\u3002<\/p>\n\n\n\n<p>4\u5e74\u540e\uff0c\u53c8\u6709\u4e34\u5e8a\u62a5\u544a\u63cf\u8ff0\u4e863\u540d\u60a3\u8005\uff0c\u4ed6\u4eec\u4ec5\u67092q33.1\u7684\u5c0f\u7f3a\u5931\uff0c\u4e3b\u8981\u5f71\u54cdSATB2\u57fa\u56e0\u30023\u4eba\u5747\u8868\u73b0\u51fa\u4e25\u91cd\u7684\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u548c\u7259\u9f7f\u5f02\u5e38\uff0c\u4f46\u5176\u4ed6\u75c7\u72b6\u5b58\u5728\u5dee\u5f02\u3002\u5176\u4e2d2\u4eba\u6709\u884c\u4e3a\u5f02\u5e38\u548c\u8f7b\u5ea6\u7578\u5f62\u3002\u7531\u6b64\u5f97\u51fa\u7ed3\u8bba\uff1aSATB2\u4e0e2q32-q33\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u901a\u5e38\u79f0\u4e3aGlass\u7efc\u5408\u5f81\uff09\u7684\u4e00\u90e8\u5206\u75c7\u72b6\u5bc6\u5207\u76f8\u5173\u3002<\/p>\n\n\n\n<p>2q33.1\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u4e3b\u8981\u7279\u5f81\u5305\u62ec\u4e0d\u540c\u7a0b\u5ea6\u7684\u667a\u529b\u969c\u788d\uff0c\u4ee5\u53ca\u9762\u988c\u53d1\u80b2\u5f02\u5e38\uff0c\u5982\u5c0f\u988c\u7578\u5f62\u3001\u4e0b\u659c\u773c\u88c2\u3001\u816d\u88c2\u3001\u7259\u9f7f\u62e5\u6324\u3002\u5176\u4ed6\u8868\u73b0\u8fd8\u5305\u62ec\u766b\u75eb\u3001\u5173\u8282\u677e\u5f1b\u3001\u8718\u86db\u6307\uff08\u7ec6\u957f\u624b\u6307\u6216\u811a\u8dbe\uff09\uff0c\u4ee5\u53ca\u5f00\u6717\u6109\u5feb\u7684\u6027\u683c\u3002\u6709\u5145\u5206\u8bc1\u636e\u8868\u660e\uff0cSATB2\u57fa\u56e0\uff08\u4f4d\u4e8e\u67d3\u8272\u4f532q33.1\uff09\u7684\u6742\u5408\u6027\u7a81\u53d8\u662f\u8be5\u7efc\u5408\u5f81\u7684\u4e3b\u8981\u81f4\u75c5\u539f\u56e0\u3002\u4f46\u5728\u8be5\u533a\u57df\u8fd8\u5b58\u5728\u5176\u4ed66\u4e2a\u57fa\u56e0\uff1a<strong>PGAP1\u3001HSPD1\u3001CASP10\u3001TMEM237\u3001ALS2\u3001BMPR2<\/strong>\u3002\u8fd9\u4e9b\u57fa\u56e0\u5206\u522b\u4e0e\u5176\u4ed6\u75be\u75c5\u76f8\u5173\uff0c\u90e8\u5206\u75c7\u72b6\u53ef\u80fd\u4e0eSATB2\u76f8\u5173\u7efc\u5408\u5f81\u91cd\u53e0\u6216\u540c\u65f6\u51fa\u73b0\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-large\"><img decoding=\"async\" width=\"1024\" height=\"18\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/2q33.1-hgtIdeo_genome_asia_339299_953a0-1024x18.png\" alt=\"2q33.1\" class=\"wp-image-89580\"\/><\/figure><\/div>\n\n\n<div style=\"height:14px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u8fd9\u4e9b\u57fa\u56e0\u76f8\u5173\u7684\u75be\u75c5\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9057\u4f20\u6027\u75c9\u631b\u6027\u622a\u762b<\/strong>\uff08PGAP1\u3001HSPD1\uff09<br><\/li>\n\n\n\n<li><strong>SATB2\u76f8\u5173\u7efc\u5408\u5f81<\/strong>\uff08SATB2\uff09<br><\/li>\n\n\n\n<li><strong>\u81ea\u8eab\u514d\u75ab\u6027\u6dcb\u5df4\u589e\u6b96\u7efc\u5408\u5f81<\/strong>\uff08CASP10\uff09<br><\/li>\n\n\n\n<li><strong>Joubert\u7efc\u5408\u5f81<\/strong>\uff08TMEM237\uff09<br><\/li>\n\n\n\n<li><strong>ALS\u76f8\u5173\u75be\u75c5<\/strong>\uff0c\u5305\u62ec\u808c\u840e\u7f29\u4fa7\u7d22\u786c\u5316\u75c7\uff08ALS\uff09\uff08ALS2\uff09<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u9057\u4f20\u6027\u80ba\u52a8\u8109\u9ad8\u538b<\/strong>\uff08BMPR2\uff09<\/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-large\"><img decoding=\"async\" width=\"1024\" height=\"18\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/SATB2-hgtIdeo_genome_asia_34ce3a_ca8d0-1024x18.png\" alt=\"SATB2\" class=\"wp-image-89585\"\/><\/figure><\/div>\n\n\n<div style=\"height:14px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u5f53\u7f3a\u5931\u8303\u56f4\u66f4\u5927\uff08\u8986\u76d62q32.2\u2013q33\u533a\u57df\uff09\u65f6\uff0c\u75c7\u72b6\u7c7b\u578b\u548c\u4e25\u91cd\u7a0b\u5ea6\u901a\u5e38\u66f4\u52a0\u591a\u6837\u5316\u3002<\/p>\n\n\n\n<p>\u7814\u7a76\u8868\u660e\uff0cSATB2\u57fa\u56e0\u662f\u5bfc\u81f42q33.1\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u5173\u952e\u56e0\u7d20\u3002\u672c\u7bc7\u4e3b\u8981\u805a\u7126\u4e8eSATB2\uff0c\u56e0\u4e3a\u5b83\u89e3\u91ca\u4e86\u5927\u591a\u6570\u5178\u578b\u75c7\u72b6\u3002<\/p>\n\n\n\n<p>SATB2\u76f8\u5173\u7efc\u5408\u5f81\u662f\u4e00\u79cd\u6781\u5176\u7f55\u89c1\u7684\u9057\u4f20\u75c5\uff0c\u5168\u7403\u60a3\u8005\u4e0d\u8db31000\u4eba\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-1.jpg\" alt=\"\u624b\u624b(\u624b)\" class=\"wp-image-88946\"\/><\/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=\"%E7%97%85%E5%9B%A0%E4%B8%8E%E8%AF%8A%E6%96%AD\"><\/span><strong>\u75c5\u56e0\u4e0e\u8bca\u65ad<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>SATB2\u76f8\u5173\u7efc\u5408\u5f81\u662f\u7531\u4e8e<strong>SATB2\u57fa\u56e0\u529f\u80fd\u4e27\u5931<\/strong>\u6240\u81f4\u3002\u8be5\u57fa\u56e0\u5728\u5927\u8111\u53d1\u80b2\u3001\u9aa8\u9abc\u5f62\u6210\u53ca\u5176\u4ed6\u91cd\u8981\u8fc7\u7a0b\u8d77\u5173\u952e\u4f5c\u7528\u3002SATB2\u901a\u8fc7\u8c03\u63a7DNA\u7ed3\u6784\u6765\u7cbe\u786e\u63a7\u5236\u57fa\u56e0\u8868\u8fbe\u3002\u4e00\u65e6\u5176\u529f\u80fd\u53d7\u635f\uff0c\u8c03\u63a7\u7cfb\u7edf\u5931\u8861\uff0c\u5bfc\u81f4\u5e7f\u6cdb\u53d1\u80b2\u5f02\u5e38\u3002<\/p>\n\n\n\n<p>\u5728\u5927\u8111\u4e2d\uff0cSATB2\u5bf9\u5927\u8111\u76ae\u5c42\u4e2d\u7279\u5b9a\u795e\u7ecf\u5143\u4e4b\u95f4\u7684\u8fde\u63a5\u5c24\u4e3a\u91cd\u8981\uff0c\u8fd9\u4e9b\u8fde\u63a5\u662f\u5b66\u4e60\u548c\u8bb0\u5fc6\u7b49\u8ba4\u77e5\u529f\u80fd\u7684\u57fa\u7840\u3002SATB2\u7f3a\u9677\u4f1a\u6270\u4e71\u76f8\u5173\u57fa\u56e0\u7684\u8868\u8fbe\uff0c\u4ece\u800c\u5f71\u54cd\u8111\u7ed3\u6784\u4e0e\u529f\u80fd\uff0c\u5bfc\u81f4\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u4ee5\u53ca\u8bed\u8a00\u969c\u788d\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=\"360\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/2781799_s.jpg\" alt=\"\u8133\" class=\"wp-image-88607\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>SATB2\u8fd8\u8c03\u63a7\u4e0e\u9aa8\u9abc\u53d1\u80b2\u76f8\u5173\u7684\u57fa\u56e0\uff0c\u56e0\u6b64\u529f\u80fd\u4e27\u5931\u53ef\u5f15\u8d77\u816d\u88c2\u548c\u5176\u4ed6\u9aa8\u9abc\u5f02\u5e38\u3002<\/p>\n\n\n\n<p>\u603b\u7684\u6765\u8bf4\uff0cSAS\u6e90\u4e8eSATB2\u4f5c\u4e3a\u201c\u57fa\u56e0\u6307\u6325\u5b98\u201d\u7684\u529f\u80fd\u4e27\u5931\u3002\u8fd9\u79cd\u4e27\u5931\u4f1a\u5f71\u54cd\u591a\u4e2a\u76f8\u4e92\u5173\u8054\u7684\u751f\u7269\u7cfb\u7edf\uff0c\u4ea7\u751f\u5178\u578b\u7684\u4e34\u5e8a\u75c7\u72b6\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 is-resized\"><img decoding=\"async\" width=\"512\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chr2-MeCbWRTOXMcbAACKZIAAAYZY.png\" alt=\"chr2\" class=\"wp-image-89620\" style=\"width:512px;height:auto\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u8fd1\u5e74\u6765\uff0c**\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09**\u7684\u53d1\u5c55\uff0c\u4e3a\u7b5b\u67e5\u63d0\u4f9b\u4e86\u4e00\u79cd\u5b89\u5168\u53ef\u9760\u7684\u65b9\u6cd5\u3002\u4e0e\u7f8a\u6c34\u7a7f\u523a\u3001\u80ce\u513fFISH\u7b49\u4fb5\u5165\u6027\u68c0\u6d4b\u4e0d\u540c\uff0cNIPT\u4ec5\u9700\u5206\u6790\u6bcd\u4f53\u8840\u6db2\u4e2d\u7684\u80ce\u513fDNA\u7247\u6bb5\uff0c\u4e0d\u4f1a\u589e\u52a0\u6bcd\u5a74\u98ce\u9669\uff0c\u4e14\u7ed3\u679c\u53ef\u4fe1\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\/1p36_deletion_syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">1p36\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066 <\/div>\n          <div class=\"blog-card-excerpt\">1p36\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u7a00\u306a\u67d3\u8272\u4f53\u7570\u5e38\u304c\u539f\u56e0\u3067\u767a\u75c7\u3059\u308b\u75be\u60a3\u3067\u3059\u3002\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\u3001\u3051\u3044\u308c\u3093\u767a\u4f5c\u306a\u3069\u591a\u5c90\u306b\u308f\u305f\u308b\u75c7...<\/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=\"%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><strong>\u4e3b\u8981\u8868\u73b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53d1\u80b2\u8fdf\u7f13\u4e0e\u667a\u529b\u969c\u788d<\/strong>\uff1a\u8f7b\u5ea6\u5230\u91cd\u5ea6\u4e0d\u7b49\uff0c\u5927\u591a\u4e3a\u4e2d\u91cd\u5ea6\u3002<br><\/li>\n\n\n\n<li><strong>\u8bed\u8a00\u969c\u788d<\/strong>\uff1a\u5927\u90e8\u5206\u60a3\u8005\u8bed\u8a00\u6781\u4e3a\u6709\u9650\uff0c\u9700\u901a\u8fc7\u624b\u52bf\u3001\u624b\u8bed\u6216\u8f85\u52a9\u6c9f\u901a\u8bbe\u5907\u4ea4\u6d41\u3002<br><\/li>\n\n\n\n<li><strong>\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13<\/strong>\uff1a\u5982\u8d70\u8def\u8f83\u665a\uff0c\u5e38\u4f34\u4f4e\u808c\u5f20\u529b\u3002<br><\/li>\n\n\n\n<li><strong>\u884c\u4e3a\u95ee\u9898<\/strong>\uff1a\u81ea\u95ed\u75c7\u6837\u7279\u5f81\u3001\u591a\u52a8\u3001\u51b2\u52a8\u3001\u653b\u51fb\u3001\u81ea\u4f24\u3001\u7126\u8651\uff1b\u5e38\u4f34\u7761\u7720\u969c\u788d\u548c\u611f\u5b98\u5904\u7406\u5f02\u5e38\u3002\u90e8\u5206\u60a3\u8005\u8868\u73b0\u51fa\u5f00\u6717\u53cb\u597d\u7684\u6027\u683c\u3002<br><\/li>\n\n\n\n<li><strong>\u795e\u7ecf\u7cfb\u7edf<\/strong>\uff1a\u4f4e\u808c\u5f20\u529b\uff0c\u7ea620%\u6709\u766b\u75eb\uff1b\u90e8\u5206\u60a3\u8005\u5728\u7761\u7720\u4e2d\u8111\u7535\u56fe\u5f02\u5e38\u3002\u5c11\u6570\u75c5\u4f8b\u8868\u73b0\u51fa\u7c7b\u4f3cRett\u7efc\u5408\u5f81\u7684\u624b\u90e8\u91cd\u590d\u52a8\u4f5c\u3002<br><\/li>\n\n\n\n<li><strong>\u9885\u9762\u7279\u5f81<\/strong>\uff1a\u957f\u8138\u3001\u9ad8\u989d\u5934\u3001\u8584\u4e0a\u5507\u3001\u5c0f\u4e0b\u988c\u3002<br><\/li>\n\n\n\n<li><strong>\u816d\u5f02\u5e38<\/strong>\uff1a\u816d\u88c2\u3001\u9ad8\u62f1\u816d\u3001\u88c2 uvula\uff1b\u5e38\u5bfc\u81f4\u5582\u517b\u56f0\u96be\u3002<br><\/li>\n\n\n\n<li><strong>\u7259\u9f7f\u95ee\u9898<\/strong>\uff1a\u7259\u5f62\u5f02\u5e38\u3001\u840c\u51fa\u5ef6\u8fdf\u3001\u62e5\u6324\u3001\u6613\u635f\u3002\u4e25\u91cd\u8005\u9700\u5582\u517b\u6cbb\u7597\u6216\u80c3\u7ba1\u3002<br><\/li>\n\n\n\n<li><strong>\u9aa8\u9abc\u95ee\u9898<\/strong>\uff1a\u810a\u67f1\u4fa7\u5f2f\u3001\u817f\u5f2f\u66f2\u3001\u5173\u8282\u50f5\u786c\u3001\u9aa8\u5bc6\u5ea6\u4f4e\uff0c\u6613\u9aa8\u6298\u3002\u5927\u8303\u56f4\u7f3a\u5931\u8005\u66f4\u5e38\u89c1\u751f\u957f\u8fdf\u7f13\u3002<br><\/li>\n<\/ul>\n\n\n\n<p><strong>\u5176\u4ed6\u8868\u73b0<\/strong>\uff1a\u659c\u89c6\u3001\u5c48\u5149\u4e0d\u6b63\u3001\u5148\u5929\u6027\u5fc3\u810f\u7578\u5f62\uff08\u7f55\u89c1\uff09\u3001\u7537\u5b69\u53ef\u80fd\u51fa\u73b0\u9690\u777e\u6216\u5c3f\u9053\u4e0b\u88c2\u3002<\/p>\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\/28793493_s.jpg\" alt=\"\u5b50\u4f9b\u3092\u62b1\u3044\u3066\u3044\u308b\u5973\u6027\" class=\"wp-image-88004\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p><strong>\u7ba1\u7406\u65b9\u5f0f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u65e9\u671f\u5e72\u9884\uff1a\u53d1\u80b2\u652f\u6301\u3001\u8bed\u8a00\u6cbb\u7597\u3001\u8f85\u52a9\u6c9f\u901a\u5de5\u5177\u3002<br><\/li>\n\n\n\n<li>\u7269\u7406\/\u4f5c\u4e1a\u6cbb\u7597\uff1a\u6539\u5584\u8fd0\u52a8\u80fd\u529b\u4e0e\u808c\u5f20\u529b\u3002<br><\/li>\n\n\n\n<li>\u884c\u4e3a\u5e72\u9884\u4e0e\u836f\u7269\uff1a\u63a7\u5236\u591a\u52a8\u3001\u7126\u8651\u3001\u653b\u51fb\u6027\u3002<br><\/li>\n\n\n\n<li>\u7761\u7720\u7ba1\u7406\uff1a\u884c\u4e3a\u8c03\u6574\u6216\u836f\u7269\u3002<br><\/li>\n\n\n\n<li>\u766b\u75eb\uff1a\u6297\u766b\u75eb\u836f\u7269\u3002<br><\/li>\n\n\n\n<li>\u9762\u988c\u5f02\u5e38\uff1a\u624b\u672f\u4e0e\u5582\u517b\u6cbb\u7597\u3002<br><\/li>\n\n\n\n<li>\u9aa8\u9abc\u5065\u5eb7\uff1a\u8fd0\u52a8\u3001\u9499\u548c\u7ef4\u751f\u7d20D\u8865\u5145\uff0c\u5fc5\u8981\u65f6\u836f\u7269\u6cbb\u7597\u3002<br><\/li>\n\n\n\n<li>\u5b9a\u671f\u68c0\u67e5\uff1a\u7259\u79d1\u3001\u773c\u79d1\u3001\u9aa8\u5bc6\u5ea6\u3001\u751f\u957f\u76d1\u6d4b\uff0c\u4ee5\u53ca\u5fc3\u810f\/\u6ccc\u5c3f\u7cfb\u7edf\u968f\u8bbf\u3002<br><\/li>\n<\/ul>\n\n\n\n<p>\u7ba1\u7406\u9700\u8981<strong>\u591a\u5b66\u79d1\u5408\u4f5c<\/strong>\uff0c\u5305\u62ec\u513f\u79d1\u3001\u795e\u7ecf\u79d1\u3001\u8bed\u8a00\u6cbb\u7597\u3001\u9aa8\u79d1\u7b49\uff0c\u4ee5\u63d0\u9ad8\u751f\u6d3b\u8d28\u91cf\u548c\u4fc3\u8fdb\u53d1\u80b2\u6f5c\u80fd\u3002<\/p>\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\/31048631_s-1.jpg\" alt=\"\u3053\u3069\u3082\u306e\u8a3a\u65ad\" class=\"wp-image-88820\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/3q29del\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">3q29\u6b20\u5931\u75c7\u5019\u7fa4\uff083q29 deletion syndrome\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">3q29\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u67d3\u8272\u4f53\u306e\u7279\u5b9a\u90e8\u5206\u306e\u6b20\u5931\u306b\u3088\u308b\u7a00\u5c11\u75be\u60a3\u3067\u3001\u591a\u69d8\u306a\u75c7\u72b6\u3092\u4f34\u3044\u307e\u3059\u3002\u4e00\u65b9\u3001\u30c0\u30a4\u30e4\u30e2\u30f3\u30c9\u30fb\u30d6\u30e9\u30c3\u30af\u30d5\u30a1\u30f3\u8ca7\u88405\u578b\uff08DBA5\uff09\u306fR...<\/div>\n      <\/div>\n    <\/a>\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\u524dSAS\u5c1a\u65e0\u6cbb\u6108\u65b9\u6cd5\uff0c\u4e3b\u8981\u4f9d\u8d56\u652f\u6301\u6027\u6cbb\u7597\uff0c\u4ee5\u6539\u5584\u751f\u6d3b\u8d28\u91cf\u548c\u529f\u80fd\u80fd\u529b\uff0c\u51cf\u5c11\u5e76\u53d1\u75c7\u3002<\/p>\n\n\n\n<p>\u9884\u540e\u56e0\u75c7\u72b6\u8f7b\u91cd\u5dee\u5f02\u5f88\u5927\u3002\u90e8\u5206\u60a3\u8005\u53ef\u76f8\u5bf9\u72ec\u7acb\u751f\u6d3b\uff0c\u90e8\u5206\u5219\u9762\u4e34\u4e25\u91cd\u969c\u788d\u3002\u968f\u7740\u5bf9\u5206\u5b50\u673a\u5236\u7684\u8ba4\u8bc6\u52a0\u6df1\uff0c\u672a\u6765\u5728\u8bca\u65ad\u3001\u54a8\u8be2\u548c\u60a3\u8005\u7ba1\u7406\u65b9\u9762\u90fd\u4f1a\u8fdb\u4e00\u6b65\u6539\u5584\u3002<\/p>\n\n\n\n<p>\u63d0\u5347\u793e\u4f1a\u8ba4\u77e5\u4e0e\u652f\u6301\u6709\u52a9\u4e8e\u6539\u5584\u60a3\u8005\u7684\u751f\u6d3b\u8d28\u91cf\u548c\u957f\u671f\u9884\u540e\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<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9B%B4%E5%A4%9A%E4%BF%A1%E6%81%AF%E8%B5%84%E6%BA%90\"><\/span><strong>\u66f4\u591a\u4fe1\u606f\u8d44\u6e90<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>SATB2\u95e8\u6237\u7f51\u7ad9<\/strong>\uff08\u82f1\u6587\uff0c\u542b\u56fe\u7247\uff09\uff1aSAS\u76f8\u5173\u7efc\u5408\u5f81\u4fe1\u606f<br><\/p>\n\n\n\n<p><strong>Unique\u7ec4\u7ec7\u8d44\u6599<\/strong>\uff08\u82f1\u6587\uff0c\u542b\u56fe\u7247\uff09\uff1a2q33.1\u53ca2q31\u2013q33\u7f3a\u5931\u8d44\u6599\u9875<br><\/p>\n\n\n\n<p><strong>Unique\u7ec4\u7ec7\u8d44\u6599<\/strong>\uff08\u82f1\u6587\uff0c\u542b\u56fe\u7247\uff09\uff1aSATB2\u76f8\u5173\u7efc\u5408\u5f81\uff08SAS\uff09\/Glass\u7efc\u5408\u5f81\u8d44\u6599\u9875<\/p>\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:\/\/doi.org\/10.1016\/j.molcel.2023.12.024\">Wahl, N., Espeso-Gil, S., Chietera, P., Nagel, A., Laighneach, A., Morris, D. W., Rajarajan, P., Akbarian, S., Dechant, G., &amp; Apostolova, G. (2024). SATB2 organizes the 3D genome architecture of cognition in cortical neurons. <em>Molecular Cell<\/em>, <em>84<\/em>(4), 621-639.e9. https:\/\/doi.org\/10.1016\/j.molcel.2023.12.024<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41467-021-26234-7\">Pradhan, S. J., Reddy, P. C., Smutny, M., Sharma, A., Sako, K., Oak, M. S., Shah, R., Pal, M., Deshpande, O., Dsilva, G., Tang, Y., Mishra, R., Deshpande, G., Giraldez, A. J., Sonawane, M., Heisenberg, C. P., &amp; Galande, S. (2021). Satb2 acts as a gatekeeper for major developmental transitions during early vertebrate embryogenesis. <em>Nature communications<\/em>, <em>12<\/em>(1), 6094. https:\/\/doi.org\/10.1038\/s41467-021-26234-7<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.braindev.2024.06.003\">Shimojima Yamamoto, K., Shimomura, R., Shoji, H., &amp; Yamamoto, T. (2024). Glass syndrome derived from chromosomal breakage downstream region of SATB2. <em>Brain and Development<\/em>, <em>46<\/em>(9), 281\u2013285. https:\/\/doi.org\/10.1016\/j.braindev.2024.06.003<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1136\/jmg.2010.084491\">Balasubramanian, M., Smith, K., Basel-Vanagaite, L., Feingold, M. F., Brock, P., Gowans, G. C., Vasudevan, P. C., Cresswell, L., Taylor, E. J., Harris, C. J., Friedman, N., Moran, R., Feret, H., Zackai, E. H., Theisen, A., Rosenfeld, J. A., &amp; Parker, M. J. (2011). Case series: 2q33.1 microdeletion syndrome&#8211;further delineation of the phenotype. <em>Journal of Medical Genetics<\/em>, <em>48<\/em>(5), 290\u2013298. https:\/\/doi.org\/10.1136\/jmg.2010.084491<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ejmg.2005.05.005\">Van Buggenhout, G., Van Ravenswaaij-Arts, C., Mc Maas, N., Thoelen, R., Vogels, A., Smeets, D., Salden, I., Matthijs, G., Fryns, J.-P., &amp; Vermeesch, J. R. (2005). The del(2)(Q32. 2q33) deletion syndrome defined by clinical and molecular characterization of four patients. <em>European Journal of Medical Genetics<\/em>, <em>48<\/em>(3), 276\u2013289. https:\/\/doi.org\/10.1016\/j.ejmg.2005.05.005<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1371\/journal.pone.0006568\">Rosenfeld, J. A., Ballif, B. C., Lucas, A., Spence, E. J., Powell, C., Aylsworth, A. S., Torchia, B. A., &amp; Shaffer, L. G. (2009). Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. <em>PloS one<\/em>, <em>4<\/em>(8), e6568. https:\/\/doi.org\/10.1371\/journal.pone.0006568<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK458647\/\">Zarate YA, Bosanko K, Fish J. SATB2-Associated Syndrome. 2017 Oct 12 [Updated 2024 Jun 20]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK458647\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/251028\">Orphanet. <em>SATB2-associated syndrome due to a chromosomal rearrangement.<\/em> Retrieved from https:\/\/www.orpha.net\/en\/disease\/detail\/251028<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/omim.org\/entry\/612313\">Online Mendelian Inheritance in Man. (Last updated August 2023 by Hilary J. Vernon). Retreived from https:\/\/omim.org\/entry\/612313<\/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":"\u4e2d\u6587\u6982\u89812q33.1\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u53c8\u79f0G&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q33-1_deletion_syndrome\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":87960,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[14],"tags":[],"class_list":["post-111436","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\/111436","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=111436"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111436\/revisions"}],"predecessor-version":[{"id":111472,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/111436\/revisions\/111472"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/87960"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=111436"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=111436"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=111436"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}