{"id":85489,"date":"2024-11-14T14:20:07","date_gmt":"2024-11-14T05:20:07","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/7p22-1-microduplication-syndrome\/"},"modified":"2025-08-22T16:37:00","modified_gmt":"2025-08-22T07:37:00","slug":"7p22-1-microduplication-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/7p22-1-microduplication-syndrome\/?lang=zh-hans","title":{"rendered":"7p22.1\u5fae\u5c0f\u91cd\u590d\u7efc\u5408\u5f81"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\">\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\/7p22-1-microduplication-syndrome\/?lang=zh-hans\/#%E6%96%87%E7%AB%A0%E6%80%BB%E7%BB%93\" >\u6587\u7ae0\u603b\u7ed3<\/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\/7p22-1-microduplication-syndrome\/?lang=zh-hans\/#%E6%A6%82%E8%BF%B0\" >\u6982\u8ff0<\/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\/7p22-1-microduplication-syndrome\/?lang=zh-hans\/#%E4%B8%BB%E8%A6%81%E4%B8%B4%E5%BA%8A%E7%89%B9%E5%BE%81\" >\u4e3b\u8981\u4e34\u5e8a\u7279\u5f81<\/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\/7p22-1-microduplication-syndrome\/?lang=zh-hans\/#%E5%8F%91%E7%97%85%E6%9C%BA%E5%88%B6\" >\u53d1\u75c5\u673a\u5236<\/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\/7p22-1-microduplication-syndrome\/?lang=zh-hans\/#%E5%9F%BA%E5%9B%A0%E4%B8%8E%E7%9B%B8%E5%85%B3%E7%96%BE%E7%97%85\" >\u57fa\u56e0\u4e0e\u76f8\u5173\u75be\u75c5<\/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\/7p22-1-microduplication-syndrome\/?lang=zh-hans\/#%E7%A0%94%E7%A9%B6%E7%8E%B0%E7%8A%B6%E4%B8%8E%E5%B1%95%E6%9C%9B\" >\u7814\u7a76\u73b0\u72b6\u4e0e\u5c55\u671b<\/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\/7p22-1-microduplication-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=\"%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>\n<p>7p22.1\u5fae\u5c0f\u91cd\u590d\u7efc\u5408\u5f81\u662f\u4e00\u79cd\u7531\u4e8e\u67d3\u8272\u4f537p22.1\u533a\u57df\u7279\u5b9a\u57fa\u56e0\u91cd\u590d\u800c\u5bfc\u81f4\u7684\u6781\u5176\u7f55\u89c1\u7684\u9057\u4f20\u6027\u75be\u75c5\u3002\u5176\u4e3b\u8981\u75c7\u72b6\u5305\u62ec\u667a\u529b\u969c\u788d\u3001\u8fd0\u52a8\u548c\u8bed\u8a00\u53d1\u80b2\u8fdf\u7f13\u4ee5\u53ca\u5178\u578b\u7684\u9885\u9762\u90e8\u5f02\u5e38\u3002\u672c\u6587\u8be6\u7ec6\u89e3\u6790\u4e86RNF216\u3001ACTB\u7b49\u76f8\u5173\u57fa\u56e0\u7684\u529f\u80fd\u53ca\u5176\u5f71\u54cd\uff0c\u5e76\u63a2\u8ba8\u4e86\u8bca\u65ad\u4e0e\u6cbb\u7597\u7684\u53ef\u80fd\u6027\u3002<\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%BF%B0\"><\/span>\u6982\u8ff0<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>7p22.1\u5fae\u5c0f\u91cd\u590d\u7efc\u5408\u5f81\u662f\u4e00\u79cd\u7531\u67d3\u8272\u4f537\u53f7\u77ed\u81c2p22.1\u533a\u57df\u7684\u90e8\u5206\u91cd\u590d\u5f15\u8d77\u7684\u6781\u5176\u7f55\u89c1\u7684\u9057\u4f20\u6027\u75be\u75c5\u3002\u8be5\u91cd\u590d\u5bfc\u81f4\u76f8\u5173\u57fa\u56e0\u62f7\u8d1d\u6570\u589e\u52a0\uff0c\u4ece\u800c\u5e72\u6270\u6b63\u5e38\u7684\u53d1\u80b2\u53ca\u751f\u7406\u529f\u80fd\u3002\u4e3b\u8981\u75c7\u72b6\u5305\u62ec\u667a\u529b\u969c\u788d\u3001\u8fd0\u52a8\u4e0e\u8bed\u8a00\u53d1\u80b2\u8fdf\u7f13\uff0c\u4ee5\u53ca\u591a\u79cd\u5934\u9885\u9762\u90e8\u7578\u5f62\u3002<\/p>\n\n\n\n<div style=\"height:15px\" 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=\"480\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/932854_s.jpg\" alt=\"\u30ea\u30dc\u30f3\" class=\"wp-image-90521\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" 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%BB%E8%A6%81%E4%B8%B4%E5%BA%8A%E7%89%B9%E5%BE%81\"><\/span>\u4e3b\u8981\u4e34\u5e8a\u7279\u5f81<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u60a3\u6709\u8be5\u7efc\u5408\u5f81\u7684\u60a3\u8005\u901a\u5e38\u4ece\u51fa\u751f\u6216\u5a74\u513f\u671f\u5c31\u51fa\u73b0\u75c7\u72b6\uff0c\u4e34\u5e8a\u8868\u73b0\u591a\u6837\uff0c\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u795e\u7ecf\u4e0e\u53d1\u80b2\u5f02\u5e38<\/strong><br>\u667a\u529b\u969c\u788d\u3001\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\u3001\u8bed\u8a00\u53d1\u80b2\u8fdf\u7f13\u3002\u90e8\u5206\u60a3\u8005\u4f34\u6709\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\uff08ASD\uff09\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\u3002<\/li>\n\n\n\n<li><strong>\u5934\u9885\u53ca\u9762\u90e8\u5f02\u5e38<\/strong><br>\u5927\u5934\u75c7\u3001\u989d\u90e8\u7a81\u51fa\u3001\u773c\u8ddd\u589e\u5bbd\uff08\u773c\u95f4\u8ddd\u79bb\u5f00\uff09\u3001\u773c\u88c2\u5f02\u5e38\u503e\u659c\u3001\u9f3b\u5b54\u671d\u4e0a\u3001\u8033\u4f4d\u4f4e\u3001\u5c0f\u988c\u7578\u5f62\u3002<\/li>\n\n\n\n<li><strong>\u5176\u4ed6\u5668\u5b98\u7cfb\u7edf\u5f02\u5e38<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u810f<\/strong>\uff1a\u5375\u5706\u5b54\u672a\u95ed\uff08PFO\uff09\u3001\u623f\u95f4\u9694\u7f3a\u635f\uff08ASD\uff09\u3002<\/li>\n\n\n\n<li><strong>\u80be\u810f<\/strong>\uff1a\u7ed3\u6784\u6216\u529f\u80fd\u5f02\u5e38\uff0c\u90e8\u5206\u60a3\u8005\u65e9\u671f\u6613\u88ab\u5ffd\u7565\uff0c\u5efa\u8bae\u884c\u8d85\u58f0\u68c0\u67e5\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u9abc\u4e0e\u773c\u90e8<\/strong>\uff1a\u9aa8\u9abc\u53d1\u80b2\u5f02\u5e38\u6216\u773c\u90e8\u7ed3\u6784\u95ee\u9898\u3002<\/li>\n\n\n\n<li><strong>\u7537\u6027\u751f\u6b96\u7cfb\u7edf<\/strong>\uff1a\u90e8\u5206\u75c5\u4f8b\u4f34\u6709\u9690\u777e\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<div style=\"height:15px\" 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\/23563734_s.jpg\" alt=\"\u6b8b\u308a\u306e\u4e00\u7dd2\u306b\u3044\u3089\u308c\u308b\u6642\u9593\u306f\u5927\u5207\u306b\" class=\"wp-image-91081\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8F%91%E7%97%85%E6%9C%BA%E5%88%B6\"><\/span>\u53d1\u75c5\u673a\u5236<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8be5\u75be\u75c5\u7684\u53d1\u75c5\u7387\u6781\u4f4e\uff0c\u4f30\u8ba1\u4e0d\u8db3\u767e\u4e07\u5206\u4e4b\u4e00\uff0c\u9057\u4f20\u6a21\u5f0f\u591a\u4e3a<strong>\u5e38\u67d3\u8272\u4f53\u9690\u6027\u9057\u4f20<\/strong>\u3002\u7814\u7a76\u53d1\u73b0\uff0c\u6700\u5c0f\u81f4\u75c5\u533a\u57df\u4f4d\u4e8e7p22.1\uff0c\u7ea6230 kb\uff0c\u5305\u542b\u591a\u79cd\u5173\u952e\u57fa\u56e0\uff0c\u5982\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>RNF216<\/strong><br>\u7f16\u7801E3\u6cdb\u7d20\u8fde\u63a5\u9176\uff0c\u8c03\u63a7\u795e\u7ecf\u53d1\u80b2\u3001\u7a81\u89e6\u8c03\u8282\u3001\u514d\u75ab\u53cd\u5e94\u53ca\u81ea\u566c\u8fc7\u7a0b\u3002\u5f02\u5e38\u8868\u8fbe\u53ef\u80fd\u5bfc\u81f4\u795e\u7ecf\u53d1\u80b2\u8fdf\u7f13\u53ca\u8ba4\u77e5\u969c\u788d\u3002<\/li>\n\n\n\n<li><strong>ACTB<\/strong><br>\u7f16\u7801\u03b2-\u808c\u52a8\u86cb\u767d\uff0c\u662f\u7ec6\u80de\u9aa8\u67b6\u7684\u6838\u5fc3\u6210\u5206\uff0c\u5f71\u54cd\u7ec6\u80de\u8fc1\u79fb\u53ca\u5f62\u6001\u5f62\u6210\u3002\u5176\u5f02\u5e38\u4e0e\u9885\u9762\u53d1\u80b2\u5f02\u5e38\u3001\u8fd0\u52a8\u4e0e\u8bed\u8a00\u53d1\u80b2\u8fdf\u7f13\u5bc6\u5207\u76f8\u5173\u3002<\/li>\n\n\n\n<li><strong>FSCN1<\/strong><br>\u53c2\u4e0e\u795e\u7ecf\u5143\u7a81\u8d77\u7684\u5f62\u6210\u4e0e\u7a81\u89e6\u529f\u80fd\uff0c\u5f02\u5e38\u4f1a\u5bfc\u81f4\u667a\u529b\u53d1\u80b2\u8fdf\u6ede\u3002<\/li>\n<\/ul>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/2p16-3p21\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30ea\u30f3\u30c1\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3068\u3057\u3066\u306e\u67d3\u8272\u4f532p16.3\u2010p21\u306e\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931 <\/div>\n          <div class=\"blog-card-excerpt\">\u30ea\u30f3\u30c1\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u304c\u67d3\u8272\u4f532p16.3-p21\u306e\u96a3\u63a5\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3067\u3042\u308b\u3053\u3068\u3092\u63a2\u308b\u3002...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%9F%BA%E5%9B%A0%E4%B8%8E%E7%9B%B8%E5%85%B3%E7%96%BE%E7%97%85\"><\/span>\u57fa\u56e0\u4e0e\u76f8\u5173\u75be\u75c5<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=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/7p22.1-hgtIdeo_genome_33a383_8adf0-1024x20.png\" alt=\"\" class=\"wp-image-91462\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>7p22.1\u533a\u57df\u6d89\u53ca\u591a\u79cd\u529f\u80fd\u5173\u952e\u7684\u57fa\u56e0\u53ca\u5176\u76f8\u5173\u75be\u75c5\uff1a<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>\u7f16\u53f7<\/th><th>\u57fa\u56e0<\/th><th>\u76f8\u5173\u75be\u75c5<\/th><th>\u75be\u75c5\u63cf\u8ff0<\/th><\/tr><\/thead><\/table><\/figure>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><tbody><tr><td>1<\/td><td><strong>AP5Z1<\/strong><\/td><td>\u5e38\u67d3\u8272\u4f53\u9690\u6027\u810a\u9ad3\u5c0f\u8111\u6027\u8fd0\u52a8\u5931\u8c0348\u578b\uff08SPG48\uff09<\/td><td>\u6e10\u8fdb\u6027\u4e0b\u80a2\u808c\u65e0\u529b\u53ca\u75c9\u631b\uff0c\u90e8\u5206\u60a3\u8005\u4f34\u6709\u5e73\u8861\u969c\u788d\u4e0e\u6b65\u6001\u5f02\u5e38\u3002<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><tbody><tr><td>2<\/td><td><strong>ACTB<\/strong><\/td><td>\u5df4\u8d56\u7b56-\u6e29\u7279\u8111\u524d\u989c\u7efc\u5408\u5f81\uff08BRWS1\uff09\uff1b\u808c\u5f20\u529b\u969c\u788d-\u8033\u804b\u7efc\u5408\u5f811\u578b\uff08DDS1\uff09<\/td><td>DDS1\u8868\u73b0\u4e3a\u65e9\u53d1\u6027\u808c\u5f20\u529b\u969c\u788d\u548c\u611f\u97f3\u6027\u8033\u804b\uff1bBRWS1\u4f34\u6709\u8840\u5c0f\u677f\u51cf\u5c11\u548c\u7279\u5f81\u6027\u9762\u8c8c\u3002<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><tbody><tr><td>3<\/td><td><strong>RNF216<\/strong><\/td><td>\u9057\u4f20\u6027\u5171\u6d4e\u5931\u8c03\uff1b\u6208\u767b-\u970d\u59c6\u65af\u7efc\u5408\u5f81\uff08GDHS\uff09<\/td><td>\u4e3b\u8981\u8868\u73b0\u4e3a\u5171\u6d4e\u5931\u8c03\u3001\u8111\u5e72\u840e\u7f29\u53ca\u6027\u6fc0\u7d20\u7f3a\u4e4f\u5bfc\u81f4\u7684\u9752\u6625\u671f\u5ef6\u8fdf\u6216\u4e0d\u80b2\u3002<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><tbody><tr><td>4<\/td><td><strong>PMS2<\/strong><\/td><td>\u6797\u5947\u7efc\u5408\u5f814\u578b\uff08LYNCH4\uff09<\/td><td>\u589e\u52a0\u7ed3\u76f4\u80a0\u764c\u53ca\u5973\u6027\u751f\u6b96\u7cfb\u7edf\u764c\u75c7\u98ce\u9669\uff1b\u90e8\u5206\u60a3\u8005\u8868\u73b0\u4e3a\u513f\u7ae5\u671f\u6076\u6027\u80bf\u7624\u3002<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A0%94%E7%A9%B6%E7%8E%B0%E7%8A%B6%E4%B8%8E%E5%B1%95%E6%9C%9B\"><\/span>\u7814\u7a76\u73b0\u72b6\u4e0e\u5c55\u671b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u76ee\u524d\uff0c7p22.1\u5fae\u5c0f\u91cd\u590d\u7efc\u5408\u5f81\u4ecd\u5904\u4e8e\u65e9\u671f\u7814\u7a76\u9636\u6bb5\u3002\u7814\u7a76\u8868\u660e\uff0c\u57fa\u56e0\u62f7\u8d1d\u6570\u53d8\u5316\u5bfc\u81f4\u7684\u5f02\u5e38\u8868\u8fbe\uff0c\u662f\u75be\u75c5\u8868\u578b\u591a\u6837\u6027\u7684\u91cd\u8981\u539f\u56e0\u3002\u6df1\u5165\u5206\u6790<strong>RNF216<\/strong>\u548c<strong>ACTB<\/strong>\u7b49\u57fa\u56e0\u5728\u795e\u7ecf\u53d1\u80b2\u53ca\u7ec6\u80de\u8c03\u63a7\u4e2d\u7684\u4f5c\u7528\uff0c\u6709\u52a9\u4e8e\u9610\u660e\u75be\u75c5\u673a\u5236\u3002<\/p>\n\n\n\n<p>\u4e34\u5e8a\u4e0a\uff0c\u968f\u7740\u57fa\u56e0\u82af\u7247\u548c\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u6280\u672f\u7684\u53d1\u5c55\uff0c\u65e9\u671f\u8bca\u65ad\u7387\u9010\u6b65\u63d0\u5347\uff0c\u4f46\u9488\u5bf9\u6027\u7684\u6cbb\u7597\u4ecd\u7f3a\u4e4f\u3002\u76ee\u524d\u7684\u5e72\u9884\u591a\u4e3a\u5bf9\u75c7\u652f\u6301\uff0c\u5982\u8bed\u8a00\u8bad\u7ec3\u3001\u8fd0\u52a8\u5eb7\u590d\u4ee5\u53ca\u5fc3\u80be\u529f\u80fd\u7684\u76d1\u6d4b\u548c\u7ba1\u7406\u3002<\/p>\n\n\n\n<p>\u672a\u6765\u7684\u7814\u7a76\u65b9\u5411\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6269\u5c55\u75c5\u4f8b\u6536\u96c6\uff0c\u5b8c\u5584\u57fa\u56e0\u578b\u4e0e\u8868\u578b\u7684\u5bf9\u5e94\u5173\u7cfb<\/li>\n\n\n\n<li>\u63a2\u7d22\u57fa\u56e0\u7f16\u8f91\u548c\u5c0f\u5206\u5b50\u836f\u7269\u5e72\u9884\u7684\u6f5c\u529b<\/li>\n\n\n\n<li>\u6df1\u5316\u591a\u7ec4\u5b66\u6574\u5408\u5206\u6790\uff0c\u63ed\u793a\u590d\u6742\u7684\u5206\u5b50\u901a\u8def<\/li>\n<\/ul>\n\n\n\n    <a href=\"\/nipt\/8q12-microduplication-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">8q12\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">8q12\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3001\u4e3b\u306a\u75c7\u72b6\u3001\u6cbb\u7642\u6cd5\u3001\u4e88\u5f8c\u3001\u305d\u3057\u3066\u5bb6\u65cf\u304c\u5229\u7528\u3067\u304d\u308b\u652f\u63f4\u65b9\u6cd5\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002\u9069\u5207\u306a\u7642\u80b2\u3068\u533b\u7642\u7ba1\u7406\u3067\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<div style=\"height:15px\" 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=\"453\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24266476_s.jpg\" alt=\"\u3066\u306e\u3072\u3089\u3067\u3053\u3053\u308d\" class=\"wp-image-91084\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" 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=\"%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\/10.1155\/2015\/212436\">Goitia, V., Oquendo, M., &amp; Stratton, R. (2015). Case of 7p22. 1 microduplication detected by whole genome microarray(Reveal)&nbsp; in workup of child diagnosed with autism. <em>Case Reports in Genetics<\/em>, <em>2015<\/em>, 1\u20136. https:\/\/doi.org\/10.1155\/2015\/212436<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/genes14061292\">Bauleo, A., Montesanto, A., Pace, V., Guarasci, F., Apa, R., Brando, R., De Stefano, L., Sestito, S., Concolino, D., &amp; Falcone, E. (2023). 7p22.2 Microduplication: A Pathogenic CNV?. <em>Genes<\/em>, <em>14<\/em>(6), 1292. https:\/\/doi.org\/10.3390\/genes14061292<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1111\/pcn.13752\">Nakatochi, M., Kushima, I., Aleksic, B., Kimura, H., Kato, H., Inada, T., Torii, Y., Takahashi, N., Yamamoto, M., Iwamoto, K., Nawa, Y., Iritani, S., Iwata, N., Saito, T., Ninomiya, K., Okochi, T., Hashimoto, R., Yamamori, H., Yasuda, Y., Fujimoto, M., \u2026 Ozaki, N. (2025). Copy number variations in RNF216 and postsynaptic membrane-associated genes are associated with bipolar disorder: a case-control study in the Japanese population. <em>Psychiatry and clinical neurosciences<\/em>, <em>79<\/em>(1), 12\u201320. https:\/\/doi.org\/10.1111\/pcn.13752<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ejmg.2016.11.005\">Ronzoni, L., Grassi, F. S., Pezzani, L., Tucci, A., Baccarin, M., Esposito, S., &amp; Milani, D. (2017). 7p22.1 microduplication syndrome: Refinement of the critical region. <em>European journal of medical genetics<\/em>, <em>60<\/em>(2), 114\u2013117. https:\/\/doi.org\/10.1016\/j.ejmg.2016.11.005<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ejmg.2015.08.003\">Caselli, R., Ballarati, L., Vignoli, A., Peron, A., Recalcati, M. P., Catusi, I., Larizza, L., &amp; Giardino, D. (2015). 7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature. <em>European journal of medical genetics<\/em>, <em>58<\/em>(11), 578\u2013583. https:\/\/doi.org\/10.1016\/j.ejmg.2015.08.003<\/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 7p22.1\u5fae\u5c0f\u91cd\u590d\u7efc\u5408\u5f81\u662f\u4e00&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7p22-1-microduplication-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-85489","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\/85489","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=85489"}],"version-history":[{"count":15,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85489\/revisions"}],"predecessor-version":[{"id":111993,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85489\/revisions\/111993"}],"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=85489"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=85489"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=85489"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}