{"id":15433,"date":"2018-11-14T12:22:04","date_gmt":"2018-11-14T03:22:04","guid":{"rendered":"https:\/\/nipt.hiro-clinic.or.jp\/nipt\/partialdeletions\/"},"modified":"2025-08-11T10:54:30","modified_gmt":"2025-08-11T01:54:30","slug":"partialdeletions","status":"publish","type":"page","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans","title":{"rendered":"\u5168\u5e38\u67d3\u8272\u4f53\u5168\u57df\u90e8\u5206\u7f3a\u5931\/\u91cd\u590d\u75be\u75c5\u662f\u4ec0\u4e48"},"content":{"rendered":"\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<div class=\"pink-pointbox\">\n<p><span class=\"pink-pointmoji\">\u5168\u5e38\u67d3\u8272\u4f53\u5168\u9886\u57df\u90e8\u5206\u7f3a\u5931\u30fb\u91cd\u590d\u75be\u60a3\u662f\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u4e00\u79cd\u3002<\/span><br>\n\u901a\u5e38\uff0c\u4eba\u7c7b\u670923\u5bf9\u67d3\u8272\u4f53\uff0c\u4f46\u662f\uff0c<span class=\"pink-pointmoji\">\u8fd9\u79cd\u5f02\u5e38\u60c5\u51b5\u4e0b\uff0c\u67d3\u8272\u4f53\u7684\u4e00\u90e8\u5206\u7f3a\u5931\uff08deletion\uff1a\u4e22\u5931\uff09\u6216\u91cd\u590d\uff08duplication\uff1a\u591a\u4f59\uff09\u3002<\/span>\u8fd9\u4f1a\u5bfc\u81f4<span class=\"pink-pointmoji\">\u57fa\u56e0\u7ec4\u6210\u53d1\u751f\u53d8\u5316\uff0c\u53ef\u80fd\u5f71\u54cd\u8eab\u4f53\u548c\u667a\u529b\u53d1\u80b2\u3002<\/span>\u4f8b\u5982\uff0c\u8eab\u4f53\u7279\u5f81\u5f02\u5e38\uff0c\u53d1\u80b2\u8fdf\u7f13\uff0c\u667a\u529b\u969c\u788d\uff0c\u5148\u5929\u6027\u5fc3\u810f\u75c5\u7b49\u3002<\/p>\n<\/div>\n<p>\u5728Hiro \u8bca\u6240\u59d4\u6258\u7684\u4e1c\u4eac\u536b\u751f\u68c0\u67e5\u6240\u7684\u4e0b\u4e00\u4ee3\u6d4b\u5e8f\u4eea\u4e2d\uff0c<span class=\"pink-pointmoji\">\u5982\u679c\u5b58\u5728\u8d85\u8fc7700\u4e07\u4e2a\u78b1\u57fa\uff08\u603b\u4f53\u76840.23%\uff09\u7684\u7f3a\u5931\u6216\u91cd\u590d\uff0c\u5c06\u4f5c\u4e3a\u68c0\u67e5\u7ed3\u679c\u62a5\u544a\u3002<\/span><br>\n\u4e0b\u9762\u5c06\u8be6\u7ec6\u89e3\u91ca\uff0c\u4e86\u89e3\u5177\u4f53\u7684\u75c5\u4f8b\u548c\u75be\u75c5\u6848\u4f8b\uff0c\u4e3a\u63a5\u53d7NIPT\u68c0\u6d4b\u505a\u597d\u51c6\u5907\u3002<\/p>\n\n<style>\n  .pink-pointbox {\n    background-color: #fff9fb;\n    border-radius: 6px;\n    border: 3px dashed #fdb0bc;\n    font-size: 100%;\n    padding: 10px;\n    margin-bottom: 1rem;\n}\n  .pink-pointbox p {\n    margin-bottom: 0!important;\n}\n  .pink-pointmoji {\n   color: red;\n}\n<\/style>\n\n\n\n<!-- Reservation button installed under FV-->\n<section id=\"cv-button\">\n <p class=\"cv-text\">\u4e16\u754c\u6700\u9ad8\u6807\u51c6\u7684\u65b0\u4e00\u4ee3NIPT<\/p>\n <div class=\"cv-btn new-btn\">\n   <p>\u65b0\u7528\u6237\u6309\u6b64<\/p>\n   <div class=\"btn-effect\">\n     <a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/zh\/registration\/\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2024\/04\/cn-ctap-new202412.png\" alt=\"\u65b0\u898f\u767b\u9332\"><\/a>\n   <\/div>\n <\/div>\n <div class=\"cv-btn my-btn\">\n   <p>\u5df2\u767b\u8bb0\u7528\u6237\u6309\u6b64<\/p>\n   <div class=\"btn-effect\">\n     <a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/zh\/login\/\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2024\/04\/cn-ctaor-new202412.png\" alt=\"\u30de\u30a4\u30da\u30fc\u30b8\"><\/a>\n <\/div>\n <p class=\"cv-text\">24\u5c0f\u65f6\u63a5\u53d7\u9884\u8ba2\u4e2d<\/p>\n<\/section>\n\n<style>\n#cv-button{\n background-color: #fef4f8;\n \/*background-color: #fff8cf;*\/\n background-image: repeating-linear-gradient(45deg,transparent,transparent 5px,rgba(255,255,255,.5) 5px,rgba(255,255,255,.5) 10px);\n padding: 30px;\n}\n.btn-effect{\n max-width: 450px;\n width: 100%;\n margin: 0 auto;\n position:relative;\n overflow:hidden;\n}\n.btn-effect::after {\ncontent:\"\";\nheight:100%;\nwidth:30px;\nposition:absolute;\ntop:-180px;\nleft:0;\nbackground-color: #fff;\nopacity:0;\n-webkit-transform: rotate(45deg);\n-webkit-animation: reflection 2s ease-in-out infinite;\n}\n@keyframes reflection {\n0% { -webkit-transform: scale(0) rotate(45deg); opacity: 0; }\n60% { -webkit-transform: scale(0) rotate(45deg); opacity: 0.8; }\n100% { -webkit-transform: scale(50) rotate(45deg); opacity: 0; }\n}\n.cv-btn p{\n text-align: center !important;\n font-weight: 600 !important;\n font-size: 20px !important;\n margin-bottom: 0 !important;\n color: #333 !important;\n}\n.cv-btn img{\n width: 100%;\n height: auto;\n}\n.cv-text{\n text-align: center;\n font-weight: 700;\n font-size: 1.8rem !important;\n margin-bottom: 0 !important;\n color: #d8436d;\n}\n\n@media screen and (max-width:500px){\n .cv-text{\n   font-size: 20px !important;\n }\n .cv-btn p{\n   font-size: 18px !important;\n }\n}\n<\/style>\n\n\n\n<p>\u5fae\u7f3a\u5931\u75be\u75c5\u7684\u75c7\u72b6\u901a\u5e38\u53d1\u751f\u4e8e\u7ea6100\u4e07\u81f3300\u4e07\u4e2a\u78b1\u57fa\u7684\u7f3a\u5931,\u4f46\u5728\u67d0\u4e9b\u60c5\u51b5\u4e0b,\u7f3a\u5931\u7684\u78b1\u57fa\u591a\u4e8e700\u4e07\u4e2a\u3002\u8f83\u5927\u7684\u7f3a\u5931\u8d85\u51fa\u75be\u75c5\u7279\u5b9a\u90e8\u4f4d\u7684\u57fa\u56e0\u7f3a\u9677\u4e5f\u53ef\u80fd\u5bfc\u81f4\u7c7b\u4f3c\u7684\u75c7\u72b6\u6216\u66f4\u4e25\u91cd\u7684\u75be\u75c5\u3002\u56e0\u6b64\uff0c\u5f53\u7f3a\u635f\u90e8\u4f4d\u542b\u6709\u75be\u75c5\u7279\u5f02\u6027\u90e8\u4f4d\u65f6,\u5373\u4f7f\u7f3a\u635f\u8303\u56f4\u8f83\u5927,\u4e5f\u5e94\u4f7f\u7528\u76f8\u540c\u7684\u8bca\u65ad\u540d\u79f0\u3002\u7531\u4e8e\u88ab\u79f0\u4e3a\u5fae\u7f3a\u5931\u5bfc\u81f4\u8bef\u89e3,\u56e0\u6b64\u672c\u7f51\u7ad9\u5c06\u5176\u79f0\u4e3a<strong>\u300c\u90e8\u5206\u7f3a\u5931\u75be\u75c5\u300d<\/strong>\u3002<\/p>\n\n\n\n<div class=\"chromosome_sample\">\n<ul class=\"chromosome_sample_list\" style=\"display: flex; justify-content: center; align-items: baseline; max-width: 440px;\">\n<li class=\"chromosome_sample_item\">\n<div class=\"pict\">\n<figure><img decoding=\"async\" class=\"alignnone\" src=\"\/nipt\/wp-content\/uploads\/2020\/06\/b01a-198x300.png\" alt=\"\u5168\u5e38\u67d3\u8272\u4f53\u5168\u9818\u57df\u90e8\u5206\u6b20\u5931\u75be\u60a3\" width=\"198\" height=\"300\" \/><\/figure>\n<\/div>\n<div class=\"text\">\n<p style=\"color: #333333; text-align: center;\"><span style=\"font-weight: 400;\">\u5168\u5e38\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931\u75be\u75c5<\/span><\/p>\n<\/div>\n<\/li>\n<li class=\"chromosome_sample_item\">\n<div class=\"pict\">\n<figure><img decoding=\"async\" class=\"alignnone\" src=\"\/nipt\/wp-content\/uploads\/2020\/06\/t02a.png\" alt=\"\u901a\u5e38\u306e\u67d3\u8272\u4f53\" width=\"201\" height=\"300\" \/><\/figure>\n<\/div>\n<div class=\"text\">\n<p style=\"color: #333333; text-align: center;\"><span style=\"font-weight: 400;\">\u6b63\u5e38<\/span><\/p>\n<\/div>\n<\/li>\n<li class=\"chromosome_sample_item\">\n<div class=\"pict\">\n<figure><img decoding=\"async\" class=\"alignnone\" src=\"\/nipt\/wp-content\/uploads\/2020\/06\/j03a-205x300.png\" alt=\"\u5168\u5e38\u67d3\u8272\u4f53\u5168\u9818\u57df\u90e8\u5206\u91cd\u8907\u75be\u60a3\" width=\"205\" height=\"300\" \/><\/figure>\n<\/div>\n<div class=\"text\">\n<p style=\"color: #333333; text-align: center;\"><span style=\"font-weight: 400;\">\u5168\u5e38\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u590d\u75be\u75c5<\/span><\/p>\n<\/div>\n<\/li>\n<\/ul>\n<\/div>\n\n\n\n<p>\u7f3a\u5931\u6216\u91cd\u590d\u4f1a\u5bfc\u81f4\u4e0d\u540c\u7684\u75c7\u72b6\uff0c\u8fd9\u53d6\u51b3\u4e8e\u8be5\u90e8\u5206\u57fa\u56e0\u7684\u529f\u80fd\u3002\u4e3e\u4f8b\u6765\u8bf4,\u5982\u679c\u542b\u6709\u4ea7\u751f\u67d0\u79cd\u9176\u7684\u57fa\u56e0\u7684\u67d3\u8272\u4f53\u7f3a\u5931,\u5c31\u4f1a\u5f15\u8d77\u9176\u7684\u7f3a\u5931;\u5982\u679c\u542b\u6709\u8d1f\u8d23\u9aa8\u9abc\u5f62\u6210\u7684\u57fa\u56e0\u7684\u67d3\u8272\u4f53\u91cd\u53e0,\u5c31\u4f1a\u5f15\u8d77\u9aa8\u9abc\u53d1\u80b2\u5f02\u5e38\u3002<\/p>\n\n\n\n<p>\u5728\u8fc7\u53bb,\u67d3\u8272\u4f53\u7684\u7f3a\u5931\u548c\u91cd\u590d\u662f\u901a\u8fc7\u5c06\u67d3\u8272\u4f53\u67d3\u8272\u5e76\u5728\u663e\u5fae\u955c\u4e0b\u68c0\u6d4b\u7684\u65b9\u6cd5\u8fdb\u884c\u7684,\u4f46\u8fd9\u79cd\u65b9\u6cd5\u65e0\u6cd5\u68c0\u6d4b\u7f3a\u5931\u548c\u91cd\u590d\u8d85\u8fc71000\u4e07\u4e2a\u78b1\u57fa (10Mb) \u3002\u8fd1\u5e74\u6765\uff0c\u901a\u8fc7\u4f7f\u7528\u65b0\u4e00\u4ee3\u6d4b\u5e8f\u4eea\u548c\u5fae\u9635\u5217\u67d3\u8272\u4f53\u68c0\u67e5,\u5df2\u7ecf\u80fd\u591f\u8fdb\u884c\u66f4\u7cbe\u786e\u7684\u68c0\u67e5\u3002\u5176\u7ed3\u679c\u662f\u7f3a\u5931\u548c\u91cd\u590d\u5e76\u4e0d\u53ea\u53d1\u751f\u5728\u7279\u5b9a\u7684\u67d3\u8272\u4f53\u4e0a,\u800c\u662f\u51fa\u73b0\u5728\u5168\u90e8\u67d3\u8272\u4f53\u4e0a,\u5e76\u4e14\u53d1\u73b0\u4e86\u6bcf\u4e2a\u51fa\u73b0\u5f02\u5e38\u90e8\u4f4d\u7684\u75c7\u72b6\u3002\u901a\u8fc7\u8fd9\u79cd\u65b9\u5f0f\uff0c\u53ef\u4ee5\u786e\u5b9a\u7f3a\u5931\u548c\u91cd\u590d\u4e0e\u76f8\u5173\u4e34\u5e8a\u53d1\u73b0\u4e4b\u95f4\u7684\u5173\u7cfb,\u4ee5\u53ca\u5f02\u5e38\u9057\u4f20\u4fe1\u606f\u7684\u6570\u636e\u5e93\u3002\u5176\u4e2d\uff0c\u4ece\u5171\u6709\u7684\u5f02\u5e38\u9886\u57df\u548c\u7279\u5f81\u6027\u7684\u89c2\u5bdf\u7ed3\u679c\u4e2d\u5df2\u7ecf\u62a5\u544a\u4e86\u591a\u4e2a\u75c5\u4f8b,\u5e76\u4e14\u5b58\u5728\u4ece\u5b9a\u4f4d\u4e3a\u5355\u72ec\u75be\u75c5\u5230\u7f55\u89c1\u6216\u8fc4\u4eca\u4e3a\u6b62\u5c1a\u672a\u88ab\u62a5\u544a\u7684\u75c5\u4f8b\u3002\u56e0\u6b64\uff0c\u5982\u679c\u5b58\u5728\u672a\u62a5\u544a\u4e0e\u5355\u72ec\u75be\u75c5\u76f8\u5173\u7684\u7f3a\u5931\u6216\u91cd\u590d,\u5219\u6709\u5fc5\u8981\u67e5\u627e\u75c5\u4f8b\u62a5\u544a\u548c\u57fa\u56e0\u7ec4\u6570\u636e\u5e93,\u5e76\u5355\u72ec\u68c0\u67e5\u53ef\u80fd\u51fa\u73b0\u7684\u75c7\u72b6\u7b49\u3002\u4e1c\u4eac\u536b\u751f\u68c0\u67e5\u6240\u5728\u68c0\u6d4b\u5230\u67d3\u8272\u4f53\u7684\u90e8\u5206\u91cd\u590d\u3001\u7f3a\u5931\u65f6\uff0c\u5c06\u68c0\u7d22\u56fd\u5185\u5916\u591a\u4e2a\u53ef\u9760\u6027\u9ad8\u7684\u6570\u636e\u5e93,\u5982\u679c\u53d1\u73b0,\u5219\u5c06\u68c0\u6d4b\u5230\u9886\u57df\u4e2d\u5305\u542b\u7684\u75be\u75c5\u4fe1\u606f\u8fd4\u8fd8\u7ed9\u8d1f\u8d23\u533b\u751f\u3002<\/p>\n\n\n\n<p>\u5e76\u975e\u6240\u6709\u91cd\u53e0\u533a\u57df\u7684\u57fa\u56e0\u4e0e\u4e34\u5e8a\u53d1\u73b0\u4e4b\u95f4\u7684\u5173\u7cfb\u90fd\u5df2\u9610\u660e\u3002\u4e5f\u53ef\u80fd\u51fa\u73b0\u7f3a\u5931\u6216\u91cd\u590d\u800c\u65e0\u75c7\u72b6\u3002\u8fd9\u53ef\u80fd\u662f\u56e0\u4e3a\u7f3a\u5931\u6216\u91cd\u590d\u7684\u90e8\u4f4d\u4e0d\u5b58\u5728\u4e0e\u751f\u547d\u6d3b\u6027\u548c\u8eab\u4f53\u5f62\u6210\u76f8\u5173\u7684\u91cd\u8981\u57fa\u56e0,\u6216\u8005\u53ef\u80fd\u662f\u5373\u4f7f\u5b58\u5728\u57fa\u56e0\u4e5f\u672a\u663e\u793a\u75c5\u7406\u7ed3\u679c\u7684\u7c7b\u578b\u3002\u4f8b\u5982\uff0c\u7531\u4e8e8\u53f7\u67d3\u8272\u4f53\u77ed\u81c2 (8 p 23.2) \u91cd\u590d\u8fbe\u5230250\u4e07\u4e2a\u78b1\u57fa (2.5 Mb) ,\u4f46\u4ec5\u5b58\u5728\u4e00\u4e2a\u6291\u764c\u57fa\u56e0,\u56e0\u6b64\u672a\u51fa\u73b0\u5f02\u5e38,\u56e0\u6b64\u53ef\u80fd\u88ab\u8ba4\u4e3a\u662f\u6b63\u5e38\u7a81\u53d8\u3002\u786e\u8ba4\u5230\u7f3a\u5931\u6216\u91cd\u590d\u65f6,\u6709\u5fc5\u8981\u9274\u522b\u5176\u662f\u5426\u662f\u75c5\u7406\u6027\u7684,\u5bf9\u4e8e\u81f3\u4eca\u4e3a\u6b62\u5c1a\u65e0\u62a5\u544a\u75c5\u4f8b\u7684\u60c5\u51b5,\u65e0\u6cd5\u8fdb\u884c\u5224\u65ad,\u53e6\u5916,\u4e5f\u6709\u4e0e\u7f3a\u5931\u6216\u91cd\u590d\u7684\u5173\u8054\u4e0d\u8be6\u7684\u60c5\u51b5 (variant of unknown significance:VUF=\u610f\u4e49\u4e0d\u660e\u7684\u53d8\u5f02) ,\u5e0c\u671b\u80fd\u591f\u7406\u89e3\u8fd9\u4e00\u70b9\u3002<\/p>\n<\/div><\/div>\n\n\n\n\n<div class=\"section reservation\">\r\n<div class=\"container\">\r\n\r\n<a class=\"cta-btn-nipt-reservation-wimg btn-zh\" href=\"https:\/\/clinic2.hiro-test.net\/nipt\/reasons\/?lang=zh-hans\">\r\n<div class=\"cta-btn-inner\">\r\n  <p class=\"misc-txt\">Hiro\u8bca\u6240\u80fd\u591f\u505a\u5230<\/p>\r\n  <p class=\"ttl-txt\"><span>68,000<\/span>\u4ef6\u7684NIPT\u68c0\u67e5\u5b9e\u7ee9<\/p>\r\n  <p class=\"btn\"><span>\u70b9\u51fb\u8fd9\u91cc\u8fdb\u884c\u9884\u7ea6<\/span><\/p>\r\n<\/div>\r\n<\/a>\r\n\r\n<\/div>\r\n<\/div>\r\n\r\n<style>\r\n.cta-btn-nipt-reservation-wimg .cta-btn-inner .ttl-txt {\r\n  padding: 0 0 5px 10px;\r\n}\r\n.cta-btn-nipt-reservation-wimg .cta-btn-inner .ttl-txt span {\r\n  line-height: 1.1;\r\n}\r\n\r\n<\/style>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading hidden-heading\"><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"\u540d\u3082\u306a\u304d\u75c7\u4f8b\"><strong>\u65e0\u540d\u75c5\u4f8b<\/strong><\/h3>\n\n\n\n<p>\u8fd9\u662f\u8fd1\u5e74\u6765\u5173\u4e8e\u5168\u5e38\u67d3\u8272\u4f53\u5168\u9886\u57df\u90e8\u7f3a\u5931\u3001\u91cd\u590d\u75be\u75c5\u7684\u62a5\u544a\u75c5\u4f8b\u4e2d\u7684\u4e00\u4e2a\u4f8b\u5b50\u3002<\/p>\n\n\n\n<div class=\"table-sp-scroll\">\n<table class=\"datasheet-table\" cellspacing=\"0\" cellpadding=\"5\" border=\"1\">\n<colgroup>\n    <col>\n    <col>\n    <col>\n<\/colgroup>\n<tbody>\n<tr>\n<th>\u67d3\u8272\u4f53<\/th>\n<th>\u67d3\u8272\u4f53\u4f4d\u7f6e<\/th>\n<th>\u8bba\u6587<\/th>\n<\/tr>\n<tr>\n<th>2\u53f7<\/th><td>2p16.3-p21<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2p16-3p21\/?lang=zh-hans\"><span class=\"dashicons dashicons-book-alt\" style=\"vertical-align: sub;\"><\/span> 2\u53f7\u67d3\u8272\u4f53\u7684\u76f8\u90bb\u57fa\u56e0\u7f3a\u5931 (2 p16.3-p21) :\u4f5c\u4e3a\u6797\u5947\u7efc\u5408\u75c7\u7684\u75c5\u56e0<\/a>\uff08\u7ffb\u8bd1\uff09<\/td>\n<\/tr>\n<tr>\n<th>7\u53f7<\/th><td>7q21.3-q31.1<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/?lang=zh-hans\"><span class=\"dashicons dashicons-book-alt\" style=\"vertical-align: sub;\"><\/span>  7\u53f7\u67d3\u8272\u4f53 (7 q21.3-q31.1) \u90e8\u5206\u91cd\u590d:\u7f55\u89c1\u7684\u5206\u8282\u6027\u57fa\u56e0\u7ec4\u975e\u6574\u500d\u6027:\u75c5\u4f8b\u62a5\u544a\u548c\u6d89\u53ca\u672b\u7aef\u53ca\u76f8\u4f3c\u8282\u6bb5\u7684\u75c5\u4f8b\u56de\u987e<\/a>\uff08\u7ffb\u8bd1\uff09<\/td>\n<\/tr>\n<tr>\n<th>12\u53f7<\/th><td>12q24.31-q24.33<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\"><span class=\"dashicons dashicons-book-alt\" style=\"vertical-align: sub;\"><\/span> \u4e0e12\u53f7\u67d3\u8272\u4f53 (12q24.31-q24.33) \u90e8\u5206\u7f3a\u5931\u76f8\u5173\u7684\u81ea\u95ed\u75c7:\u7f55\u89c1\u75be\u75c5\u7684\u8865\u5145\u62a5\u544a<\/a>\uff08\u7ffb\u8bd1\uff09<\/td>\n<\/tr>\n<tr>\n<th>14\u53f7<\/th><td>14q<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=zh-hans\"><span class=\"dashicons dashicons-book-alt\" style=\"vertical-align: sub;\"><\/span> 14\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u91cd\u53e0<\/a>\uff08\u7ffb\u8bd1\uff09<\/td>\n<\/tr>\n<tr>\n<th>19\u53f7<\/th><td>19p13.13<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19p13-13\/?lang=zh-hans\"><span class=\"dashicons dashicons-book-alt\" style=\"vertical-align: sub;\"><\/span> 19\u53f7\u67d3\u8272\u4f53 (19p13.13) \u7684\u65b0\u578b\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u7efc\u5408\u75c7<\/a>\uff08\u7ffb\u8bd1\uff09<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n<\/div><\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"\u5168\u5e38\u67d3\u8272\u4f53\u5168\u9818\u57df\u90e8\u5206\u6b20\u5931-\u91cd\u8907\u75be\u60a3\u306e\u5831\u544a\u4f8b\"><strong>\u5168\u5e38\u67d3\u8272\u4f53\u5168\u533a\u57df\u90e8\u5206\u7f3a\u5931\u30fb\u91cd\u590d\u75be\u75c5\u62a5\u544a\u4f8b<\/strong><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"chromosome-deletion\"><strong>\u67d3\u8272\u4f53\u7f3a\u5931<\/strong><\/h3>\n\n\n\n<div class=\"table-sp-scroll\">\n<table class=\"datasheet-table\" cellspacing=\"0\" cellpadding=\"5\" border=\"1\">\n<colgroup>\n    <col>\n    <col>\n    <col>\n    <col>\n<\/colgroup>\n<tbody>\n<tr>\n<th>\u67d3\u8272\u4f53<\/th>\n<th>\u7f3a\u5931\u90e8\u5206<\/th>\n<th>\u7efc\u5408\u75c7<\/th>\n<th>\u5907\u6ce8<\/th>\n<\/tr>\n<tr>\n<th>1\u53f7<\/th>\n<td class=\"back_five\">1p12<\/td>\n<td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/12_08_024\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u963f\u62c9\u5409\u5c14\u7efc\u5408\u75c7 (Alagille\u7efc\u5408\u75c7)<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>1\u53f7<\/th>\n<td class=\"back_five\">1q21.1<\/td>\n<td>1q21.1\u5fae\u7f3a\u5931\u7efc\u5408\u75c7<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>1\u53f7<\/th>\n<td class=\"back_five\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36<\/a><\/td>\n<td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4496\" target=\"_blank\" rel=\"noopener noreferrer\">1p36\u7f3a\u5931\u7efc\u5408\u75c7<\/a><\/td>\n<td>\u53d1\u751f\u7387 (\u51fa\u751f\u65f6) 4,000~1\u4e07\u4f8b\u4e2d\u67091\u4f8b<br>\n\u53d1\u80b2\u969c\u788d\u3001\u91cd\u5ea6\u667a\u529b\u53d1\u80b2\u8fdf\u7f13\u3001\u96be\u6cbb\u6027\u766b\u75eb\u7b49\u75c7\u72b6<\/td>\n<\/tr>\n<tr>\n<th>2\u53f7<\/th>\n<td>2q13<\/td>\n<td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/02_08_028\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u80be\u75c5 (Nephronophthisis) 1\u578b<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>2\u53f7<\/th>\n<td>2p21<\/td>\n<td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/11_03_007\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u5168\u524d\u8111\u6ce1\u75c7<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>2\u53f7<\/th>\n<td>2q37.3<\/td>\n<td><a href=\"https:\/\/translate.google.com\/translate?hl=ja&amp;sl=en&amp;u=http:\/\/grj.umin.jp\/grj\/2q37.htm&amp;prev=search&amp;pto=aue\" target=\"_blank\" rel=\"noopener noreferrer\">\u5965\u5c14\u5e03\u8d56\u7279 (Albright) \u7efc\u5408\u75c7\u6837\u638c\u9aa8\u30fb\u4e2d\u8db3\u9aa8\u77ed\u5c0f<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>3\u53f7<\/th>\n<td>3q29<\/td>\n<td>3q29\u5fae\u7f3a\u5931\u7efc\u5408\u75c7<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>4\u53f7<\/th>\n<td class=\"back_five\">4p16.3<\/td>\n<td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4805\" target=\"_blank\" rel=\"noopener noreferrer\">\u6c83\u5c14\u592b-\u8d6b\u65af\u970d\u6069\u7efc\u5408\u75c7 (Wolf-Hirschhorn\u7efc\u5408\u75c7)<\/a><\/td>\n<td>\u53d1\u751f\u7387 (\u51fa\u751f\u65f6) \u6bcf50,000\u4f8b\u4e2d\u53d1\u751f1\u4f8b<br>\n\u4e25\u91cd\u7684\u667a\u529b\u53d1\u80b2\u8fdf\u7f13\uff0c\u53d1\u80b2\u8fdf\u7f13,\u96be\u6cbb\u6027\u766b\u75eb,\u591a\u79cd\u5f62\u6001\u5f02\u5e38\u3002<\/td>\n<\/tr>\n<tr>\n<th>5\u53f7<\/th>\n<td class=\"back_five\">5p13.2<\/td>\n<td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/13_01_007\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u79d1\u5c14\u5185\u5229\u4e9a-\u5fb7\u5170\u683c\u7efc\u5408\u75c7 (Cornelia de Lange\u7efc\u5408\u75c7)<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>5\u53f7<\/th>\n<td class=\"back_five\">5p15.2<\/td>\n<td><a href=\"https:\/\/translate.google.com\/translate?hl=ja&amp;sl=en&amp;u=https:\/\/nace.igenomix.com\/cri-du-chat-syndrome-5p15-2-deletion\/&amp;prev=search&amp;pto=aue\" target=\"_blank\" rel=\"noopener noreferrer\">\u732b\u53eb\u7efc\u5408\u75c7<\/a><\/td>\n<td>\u53d1\u751f\u7387 (\u51fa\u751f\u65f6) \u6bcf20,000~50,000\u4f8b\u4e2d\u53d1\u751f1\u4f8b<br>\n\u51fa\u751f\u4f53\u91cd\u4f4e,\u53d1\u80b2\u4e0d\u5168,\u557c\u54ed\u58f0\u50cf\u732b\u7684\u5c16\u53eb\u58f0\u3002\u5bb9\u8c8c\u7279\u5f81\u548c\u808c\u5f20\u529b\u4f4e\u4e0b,\u7cbe\u795e\u6d3b\u52a8\u53d1\u80b2\u8fdf\u7f13\u3002<br>\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/high-resolution-mapping-of-genotype-phenotype-relationships-in-cridu-chat-syndrome-using-array-comparative-genomic-hybridization\/?lang=zh-hans\"><span class=\"dashicons dashicons-book-alt\" style=\"vertical-align: sub;\"><\/span> 5\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931:\u732b\u53eb\u7efc\u5408\u75c7\u7684\u9ad8\u5206\u8fa8\u7387\u6620\u5c04<\/a><\/td>\n<\/tr>\n<tr>\n<th>5\u53f7<\/th>\n<td class=\"back_five\">5q35.3<\/td>\n<td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/13_01_002\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u7d22\u6258\u7efc\u5408\u75c7 (Sotos\u7efc\u5408\u75c7)<\/a><\/td>\n<td>\u6709\u7814\u7a76\u6307\u51fa,\u7f3a\u5931\u578b\u548c\u91cd\u590d\u578b\u5728\u90e8\u5206\u75c7\u72b6\u4e0a\u5b58\u5728\u5dee\u5f02\u3002<br>\n\u53d1\u751f\u7387 (\u51fa\u751f\u65f6) \u6bcf14,000\u4f8b\u4e2d\u53d1\u751f1\u4f8b<\/td>\n<\/tr>\n<tr>\n<th>7\u53f7<\/th>\n<td>7q11.23<\/td>\n<td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/04_56_073\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u5a01\u5ec9\u59c6\u65af\u7efc\u5408\u75c7 (Williams\u7efc\u5408\u75c7)<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>7\u53f7<\/th>\n<td>7p13<\/td>\n<td><a href=\"http:\/\/grj.umin.jp\/grj\/phs.htm\" target=\"_blank\" rel=\"noopener noreferrer\">\u5e15\u5229\u65af\u7279-\u970d\u5c14\u7efc\u5408\u75c7 (Pallister-Hall\u7efc\u5408\u75c7)<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>7\u53f7<\/th>\n<td>7p14.1<\/td>\n<td><a href=\"https:\/\/translate.google.com\/translate?hl=ja&amp;sl=en&amp;u=https:\/\/pubmed.ncbi.nlm.nih.gov\/21296629\/&amp;prev=search&amp;pto=aue\" target=\"_blank\" rel=\"noopener noreferrer\">\u683c\u96f7\u683c\u591a\u8dbe\u7efc\u5408\u75c7 (Greig\u591a\u8dbe\u7efc\u5408\u75c7 )<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>7\u53f7<\/th>\n<td>7p21.1<\/td>\n<td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saethre-chotzen-syndrome\/?lang=zh-hans#c1\" target=\"_blank\" rel=\"noopener noreferrer\">\u8d5b\u7279\u96f7-\u8d6b\u5c91\u7efc\u5408\u75c7 (Saethre-Chotzen\u7efc\u5408\u75c7)<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>7\u53f7<\/th>\n<td>7q36.3<\/td>\n<td><a href=\"https:\/\/translate.google.com\/translate?hl=ja&amp;sl=en&amp;u=https:\/\/pubmed.ncbi.nlm.nih.gov\/25944787\/&amp;prev=search&amp;pto=aue\" target=\"_blank\" rel=\"noopener noreferrer\">\u5168\u524d\u8111\u6ce1\u75c73\u578b<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>8\u53f7<\/th>\n<td>8q12.2<\/td>\n<td><a href=\"https:\/\/translate.google.com\/translate?hl=ja&amp;sl=en&amp;u=https:\/\/www.shouman.jp\/disease\/details\/13_01_021\/&amp;prev=search&amp;pto=aue\" target=\"_blank\" rel=\"noopener noreferrer\">Charge\u7efc\u5408\u75c7 (CHARGE\u7efc\u5408\u75c7)<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>8\u53f7<\/th>\n<td>8p23.1<\/td>\n<td><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/10521848\/\">8p23.1\u5fae\u7f3a\u5931\u7efc\u5408\u75c7<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>8\u53f7<\/th>\n<td>8q23.3<\/td>\n<td>\u6bdb\u53d1\u30fb\u9f3b\u30fb\u6307\u8282\u7efc\u5408\u75c71\u578b<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>8\u53f7<\/th>\n<td>8q24.11<\/td>\n<td><a href=\"https:\/\/translate.google.com\/translate?hl=ja&amp;sl=en&amp;u=https:\/\/medlineplus.gov\/genetics\/condition\/trichorhinophalangeal-syndrome-type-ii\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u6717\u683c-\u5409\u8fea\u6069\u7efc\u5408\u75c7 (Langer-Giedion\u7efc\u5408\u75c7)<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>11\u53f7<\/th>\n<td>11p11.2<\/td>\n<td><a href=\"https:\/\/translate.google.com\/translate?hl=ja&amp;sl=en&amp;u=https:\/\/pubmed.ncbi.nlm.nih.gov\/15852040\/&amp;prev=search&amp;pto=aue\" target=\"_blank\" rel=\"noopener noreferrer\">\u6ce2\u6258\u8328\u57fa-\u8c22\u5f17\u7efc\u5408\u75c7 (Potocki-Shaffer\u7efc\u5408\u75c7) \n<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>11\u53f7<\/th>\n<td>11p13<\/td>\n<td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5452\" target=\"_blank\" rel=\"noopener noreferrer\">WAGR\u7efc\u5408\u75c7<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>12\u53f7<\/th>\n<td>12q24.13<\/td>\n<td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/05_41_091\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u8bfa\u5357\u7efc\u5408\u75c7 (Noonan\u7efc\u5408\u75c7)<\/a><\/td>\n<td>RAF1\u91cd\u590d\u62a5\u544a1\u4f8b\uff0c\u7f3a\u5931\u62a5\u544a1\u4f8b<\/td>\n<\/tr>\n<tr>\n<th>13\u53f7<\/th>\n<td>13q14.2<\/td>\n<td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/01_05_029\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u89c6\u7f51\u819c\u6bcd\u7ec6\u80de\u7624\u30fb\u53d1\u80b2\u8fdf\u7f13<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>13\u53f7<\/th>\n<td>13q32.3<\/td>\n<td>\u5168\u524d\u8111\u6ce1\u75c75\u578b<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>15\u53f7<\/th>\n<td class=\"back_five\">15q11.2\u301cq13<\/td>\n<td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4768\" target=\"_blank\" rel=\"noopener noreferrer\">\u666e\u62c9\u5fb7-\u5a01\u5229\u7efc\u5408\u75c7 (Prader-Willi\u7efc\u5408\u75c7)<\/a><\/td>\n<td>\u6765\u81ea\u7236\u4eb2\u7684\u57fa\u56e0\u7684\u7f3a\u5931,\u6e90\u4e8e\u6bcd\u4eb2\u7684\u57fa\u56e0<br>\n\u53d1\u751f\u7387 (\u51fa\u751f\u65f6) \u6bcf10,000\u301c25,000\u4f8b\u5c31\u67091\u4f8b<br>\n\u808c\u5f20\u529b\u4f4e\u4e0b,\u8272\u7d20\u51cf\u9000,\u5916\u751f\u6b96\u5668\u53d1\u80b2\u4e0d\u826f\u3002<\/td>\n<\/tr>\n<tr>\n<th>15\u53f7<\/th>\n<td class=\"back_five\">15q11.2\u301cq13<\/td>\n<td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/2407\" target=\"_blank\" rel=\"noopener noreferrer\">\u5b89\u5409\u66fc\u7efc\u5408\u75c7 (Angelman\u7efc\u5408\u75c7)<\/a><\/td>\n<td>UBE3A\u529f\u80fd\u4e27\u5931\u5bfc\u81f4\u53d1\u75c5<br>\n\u53d1\u751f\u7387 (\u51fa\u751f\u65f6) \u6bcf12,000\u4f8b\u5c31\u67091\u4f8b<br>\n\u4e25\u91cd\u7684\u7cbe\u795e\u53d1\u80b2\u8fdf\u7f13\uff0c\u766b\u75eb\u75c7,\u5931\u8c03\u6027\u6d3b\u52a8\u969c\u788d,\u884c\u4e3a\u5f02\u5e38,\u7761\u7720\u969c\u788d,\u4f4e\u8272\u7d20\u75c7,\u7279\u5f81\u6027\u9762\u5bb9\u3002<\/td>\n<\/tr>\n<tr>\n<th>16\u53f7<\/th>\n<td>16p11.2<\/td>\n<td>16p11.2\u5fae\u7f3a\u5931<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>16\u53f7<\/th>\n<td>16p13.11<\/td>\n<td>16p13.1\u5fae\u7f3a\u5931<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>16\u53f7<\/th>\n<td>16p13.3<\/td>\n<td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/13_01_004\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u9c81\u5bbe\u65af\u5766-\u6cf0\u6bd4\u7efc\u5408\u75c7 (Rubinstein-Taybi\u7efc\u5408\u75c7)<\/a><\/td>\n<td>\u53d1\u751f\u7387 (\u51fa\u751f\u65f6) \u6bcf125,000\u4f8b\u4e2d\u53d1\u751f1\u4f8b<\/td>\n<\/tr>\n<tr>\n<th>17\u53f7<\/th>\n<td>17p13.3<\/td>\n<td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/11_03_005\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u7c73\u52d2-\u8fea\u514b\u5c14\u7efc\u5408\u75c7 (Miller-Dieker\u7efc\u5408\u75c7)<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>17\u53f7<\/th>\n<td>17p11.2<\/td>\n<td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/13_01_003\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7 (Smith-Magenis\u7efc\u5408\u75c7)<\/a><\/td>\n<td>\u53d1\u751f\u7387 (\u51fa\u751f\u65f6) \u6bcf15,000~25,000\u4f8b\u4e2d\u53d1\u751f1\u4f8b<\/td>\n<\/tr>\n<tr>\n<th>17\u53f7<\/th>\n<td>17q11.2<\/td>\n<td>\u795e\u7ecf\u539f\u7ec6\u80de\u578b1\u578b<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>20\u53f7<\/th>\n<td>20p12.23<\/td>\n<td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/12_08_024\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u963f\u62c9\u5409\u5c14\u7efc\u5408\u75c7 (Alagille\u7efc\u5408\u75c7)<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>22\u53f7<\/th>\n<td>22q11.2<\/td>\n<td><a href=\"https:\/\/translate.google.com\/translate?hl=ja&amp;sl=en&amp;u=https:\/\/pubmed.ncbi.nlm.nih.gov\/7977458\/&amp;prev=search&amp;pto=aue\" target=\"_blank\" rel=\"noopener noreferrer\">\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7 (DiGeorge\u7efc\u5408\u75c7) 2\u578b<\/a><br>\n<a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5317\" target=\"_blank\" rel=\"noopener noreferrer\">22q11.2\u7f3a\u5931\u7efc\u5408\u75c7<\/a><\/td>\n<td>\u53d1\u751f\u7387 (\u51fa\u751f\u65f6) \u6bcf4000\u4f8b\u4e2d\u53d1\u751f1\u4f8b<br>\n\u5148\u5929\u6027\u5fc3\u810f\u75c5\uff0c\u7cbe\u795e\u53d1\u80b2\u8fdf\u7f13\uff0c\u7279\u5f81\u6027\u9762\u5bb9\uff0c\u514d\u75ab\u529b\u4f4e\u4e0b\uff0c\u5507\u816d\u88c2,\u8f6f\u816d\u4e0d\u5168,\u9f3b\u97f3,\u4f4e\u9499\u8840\u75c7\u3002<\/td>\n<\/tr>\n<tr>\n<th>22\u53f7<\/th>\n<td class=\"back_five\">22q13.33<\/td>\n<td><a href=\"http:\/\/grj.umin.jp\/grj\/PhM.htm\" target=\"_blank\" rel=\"noopener noreferrer\">\u8d39\u4f26-\u9ea6\u514b\u5fb7\u7c73\u7279\u7efc\u5408\u75c7 (Phelan-McDermid\u7efc\u5408\u75c7)<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n<p class=\"can_slide\">\u53ef\u4ee5\u6a2a\u5411\u6ed1\u52a8<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"chromosome-duplication\"><strong>\u67d3\u8272\u4f53\u91cd\u590d<\/strong><\/h3>\n\n\n\n<div class=\"table-sp-scroll\">\n<table class=\"datasheet-table\" cellspacing=\"0\" cellpadding=\"5\" border=\"1\">\n<colgroup>\n    <col>\n    <col>\n    <col>\n    <col>\n<\/colgroup>\n<tbody>\n<tr>\n<th>\u67d3\u8272\u4f53<\/th>\n<th>\u91cd\u590d\u90e8\u5206<\/th>\n<th>\u7efc\u5408\u75c7<\/th>\n<th>\u5907\u6ce8<\/th>\n<\/tr>\n<tr>\n<th>1\u53f7<\/th>\n<td class=\"back_five\">1q21.1<\/td>\n<td>1q21.1\u5fae\u91cd\u590d\u7efc\u5408\u75c7<\/td>\n<td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q21-1-microduplications\/?lang=zh-hans\"><span class=\"dashicons dashicons-book-alt\" style=\"vertical-align: sub;\"><\/span> 1q21.1 \u90e8\u5206\u91cd\u8907<\/a>\uff08\u7ffb\u8bd1\uff09<\/td>\n<\/tr>\n<tr>\n<th>2\u53f7<\/th>\n<td>2p21<\/td>\n<td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/11_03_007\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u5168\u524d\u8111\u6ce1\u75c7<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>3\u53f7<\/th>\n<td>3q29<\/td>\n<td>3q29\u5fae\u91cd\u590d\u7efc\u5408\u75c7<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>5\u53f7<\/th>\n<td class=\"back_five\">5p13.2<\/td>\n<td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/13_01_007\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u79d1\u5c14\u5185\u5229\u4e9a-\u5fb7\u5170\u683c\u7efc\u5408\u75c7 (Cornelia de Lange\u7efc\u5408\u75c7)<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>5\u53f7<\/th>\n<td class=\"back_five\">5q35.3<\/td>\n<td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/13_01_002\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u7d22\u6258\u7efc\u5408\u75c7 (Sotos\u7efc\u5408\u75c7)<\/a><\/td>\n<td>\u6709\u7814\u7a76\u6307\u51fa,\u7f3a\u5931\u578b\u548c\u91cd\u590d\u578b\u5728\u90e8\u5206\u75c7\u72b6\u4e0a\u5b58\u5728\u5dee\u5f02\u3002<\/td>\n<\/tr>\n<tr>\n<th>8\u53f7<\/th>\n<td>8p23.1<\/td>\n<td><a href=\"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37120\">8p23.1\u5fae\u91cd\u590d\u7efc\u5408\u75c7<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>9\u53f7<\/th>\n<td>9q34.13<\/td>\n<td>\u7ed3\u8282\u6027\u786c\u5316\u75c71\u578b<\/td>\n<td>TSC1\u57fa\u56e0\u81f4\u75c5<br>\n\u6bcf5800\u4e2a\u6848\u4f8b\u4e2d\u5c31\u67091\u4e2a<\/td>\n<\/tr>\n<tr>\n<th>10\u53f7<\/th>\n<td>10q24.3<\/td>\n<td><a href=\"https:\/\/translate.google.com\/translate?hl=ja&amp;sl=en&amp;u=https:\/\/pubmed.ncbi.nlm.nih.gov\/25257335\/&amp;prev=search&amp;pto=aue\" target=\"_blank\" rel=\"noopener noreferrer\">\u67d3\u8272\u4f5310q24\u91cd\u590d\u7efc\u5408\u75c7<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>11\u53f7<\/th>\n<td>11p11.2<\/td>\n<td><a href=\"https:\/\/translate.google.com\/translate?hl=ja&amp;sl=en&amp;u=https:\/\/pubmed.ncbi.nlm.nih.gov\/15852040\/&amp;prev=search&amp;pto=aue\" target=\"_blank\" rel=\"noopener noreferrer\">\u6ce2\u6258\u8328\u57fa-\u8c22\u5f17\u7efc\u5408\u75c7 (Potocki-Shaffer\u7efc\u5408\u75c7)\n<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>11\u53f7<\/th>\n<td>11p13<\/td>\n<td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5452\" target=\"_blank\" rel=\"noopener noreferrer\">WAGR\u7efc\u5408\u75c7<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>12\u53f7<\/th>\n<td>12q24.1<\/td>\n<td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/05_41_091\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u8bfa\u5357\u7efc\u5408\u75c7 (Noonan\u7efc\u5408\u75c7)<\/a><\/td>\n<td>RAF1\u91cd\u590d\u62a5\u544a1\u4f8b\uff0c\u7f3a\u5931\u62a5\u544a1\u4f8b<\/td>\n<\/tr>\n<tr>\n<th>13\u53f7<\/th>\n<td>13q32.3<\/td>\n<td>\u5168\u524d\u8111\u6ce1\u75c75\u578b<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>15\u53f7<\/th>\n<td class=\"back_five\">15q11.2\u301cq13<\/td>\n<td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4768\" target=\"_blank\" rel=\"noopener noreferrer\">\u666e\u62c9\u5fb7-\u5a01\u5229\u7efc\u5408\u75c7 (Prader-Willi\u7efc\u5408\u75c7)<\/a><\/td>\n<td>\u6765\u81ea\u7236\u4eb2\u7684\u57fa\u56e0\u7684\u7f3a\u5931,\u6e90\u4e8e\u6bcd\u4eb2\u7684\u57fa\u56e0<br>\n\u53d1\u751f\u7387 (\u51fa\u751f\u65f6) \u6bcf10,000\u301c25,000\u4f8b\u5c31\u67091\u4f8b<br>\n\u808c\u5f20\u529b\u4f4e\u4e0b,\u8272\u7d20\u51cf\u9000,\u5916\u751f\u6b96\u5668\u53d1\u80b2\u4e0d\u826f\u3002<\/td>\n<\/tr>\n<tr>\n<th>15\u53f7<\/th>\n<td class=\"back_five\">15q11.2\u301cq13<\/td>\n<td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/2407\" target=\"_blank\" rel=\"noopener noreferrer\">\u5b89\u5409\u66fc\u7efc\u5408\u75c7 (Angelman\u7efc\u5408\u75c7)<\/a><\/td>\n<td>UBE3A\u529f\u80fd\u4e27\u5931\u5bfc\u81f4\u53d1\u75c5<br>\n\u53d1\u751f\u7387 (\u51fa\u751f\u65f6) \u6bcf12,000\u4f8b\u5c31\u67091\u4f8b<br>\n\u4e25\u91cd\u7684\u7cbe\u795e\u53d1\u80b2\u8fdf\u7f13\uff0c\u766b\u75eb\u75c7,\u5931\u8c03\u6027\u6d3b\u52a8\u969c\u788d,\u884c\u4e3a\u5f02\u5e38,\u7761\u7720\u969c\u788d,\u4f4e\u8272\u7d20\u75c7,\u7279\u5f81\u6027\u9762\u5bb9\u3002<\/td>\n<\/tr>\n<tr>\n<th>15\u53f7<\/th>\n<td class=\"back_five\">15q26qter<\/td>\n<td>\u8fc7\u5ea6\u589e\u957f\u30fb\u667a\u529b\u969c\u788d<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>16\u53f7<\/th>\n<td>16p11.2<\/td>\n<td>16p11.2\u5fae\u91cd\u590d<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>16\u53f7<\/th>\n<td>16p13.3<\/td>\n<td>\u7ed3\u8282\u6027\u786c\u5316\u75c72\u578b<\/td>\n<td>TSC2\u57fa\u56e0\u81f4\u75c5<br>\n\u6bcf5800\u4e2a\u6848\u4f8b\u4e2d\u5c31\u67091\u4e2a<\/td>\n<\/tr>\n<tr>\n<th>16\u53f7<\/th>\n<td>16p13.3<\/td>\n<td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/13_01_004\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u9c81\u5bbe\u65af\u5766-\u6cf0\u6bd4\u7efc\u5408\u75c7 (Rubinstein-Taybi\u7efc\u5408\u75c7)<\/a><\/td>\n<td>\u539f\u56e0\u662fCREBBP\u57fa\u56e0<br>\n\u53d1\u751f\u7387 (\u51fa\u751f\u65f6) \u6bcf125,000\u4f8b\u53d1\u751f1\u4f8b<\/td>\n<\/tr>\n<tr>\n<th>16\u53f7<\/th>\n<td>16p13.11<\/td>\n<td>16p13.1\u5fae\u91cd\u53e0<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>17\u53f7<\/th>\n<td>17p11.2<\/td>\n<td>\u6ce2\u6258\u8328\u57fa-\u9c81\u666e\u65af\u57fa\u7efc\u5408\u75c7 (Potocki-Lupski\u7efc\u5408\u75c7)<\/td>\n<td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/?lang=zh-hans\"><span class=\"dashicons dashicons-book-alt\" style=\"vertical-align: sub;\"><\/span> 17\u53f7\u67d3\u8272\u4f53 (17p11.2) \u90e8\u5206\u91cd\u53e0:\u53d1\u80b2\u8fdf\u7f13\u513f\u7ae5\u7684\u91cd\u53e0<\/a><\/td>\n<\/tr>\n<tr>\n<th>17\u53f7<\/th>\n<td>17p12<\/td>\n<td><a href=\"https:\/\/www.shouman.jp\/disease\/details\/11_19_044\/\" target=\"_blank\" rel=\"noopener noreferrer\">\u6c99\u5c14\u80af-\u9a6c\u91cc-\u56fe\u601d\u75c5 (Charcot-Marie-Tooth) 1A\u578b<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>17\u53f7<\/th>\n<td>17q21.31b<\/td>\n<td>17q21.31\u5fae\u91cd\u590d\u7efc\u5408\u75c7<\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>22\u53f7<\/th>\n<td class=\"back_five\">22q11.1<\/td>\n<td><a href=\"https:\/\/translate.google.com\/translate?hl=ja&amp;sl=en&amp;u=https:\/\/pubmed.ncbi.nlm.nih.gov\/21165297\/&amp;prev=search&amp;pto=aue\" target=\"_blank\" rel=\"noopener noreferrer\">\u732b\u773c\u7efc\u5408\u75c7<\/a><\/td>\n<td>&nbsp;<\/td>\n<\/tr>\n<tr>\n<th>22\u53f7<\/th>\n<td class=\"back_five\">22q11.2<\/td>\n<td><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5317\" target=\"_blank\" rel=\"noopener noreferrer\">22q11.2\u91cd\u590d\u7efc\u5408\u75c7<\/a><\/td>\n<td>\u5148\u5929\u6027\u5fc3\u810f\u75c5\uff0c\u7cbe\u795e\u53d1\u80b2\u8fdf\u7f13\uff0c\u7279\u5f81\u6027\u9762\u5bb9\uff0c\u514d\u75ab\u529b\u4f4e\u4e0b\uff0c\u5507\u816d\u88c2,\u8f6f\u816d\u4e0d\u5168,\u9f3b\u97f3,\u4f4e\u9499\u8840\u75c7\u3002<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p class=\"can_slide\">\u53ef\u4ee5\u6a2a\u5411\u6ed1\u52a8<\/p>\n<\/div>\n\n\n\n<p>\uff08\u62a5\u544a\u5b9e\u4f8b\u662f\u90e8\u5206\u7f3a\u5931\u30fb\u91cd\u590d\u7684\u5176\u4e2d\u4e00\u90e8\u5206\uff09<br>\u4e1c\u4eac\u536b\u751f\u68c0\u67e5\u6240\u4f7f\u7528\u7684\u65b0\u4e00\u4ee3\u6d4b\u5e8f\u4eea\u65e0\u6cd5\u68c0\u6d4b\u5230700\u4e07\u78b1\u57fa\u4ee5\u4e0b\u7684\u7f3a\u5931\u30fb\u91cd\u590d\u3002\u5e76\u4e0d\u662f\u6240\u6709\u7684\u7efc\u5408\u75c7\u75c5\u4f8b\u90fd\u53ef\u4ee5\u68c0\u6d4b\u51fa\u6765\u3002<\/p>\n\n\n<\/div><\/div>\n\n\n\n\n\n<div>\n    <h3>2p \u7f3a\u5931<\/h3>\n    <div class=\"ac-title\">\n        <h4>2p25.1\u201325.3\u7684\u5bb6\u65cf\u6027\u9006\u4f4d\u91cd\u590d\/\u7f3a\u5931\u63d0\u4f9b\u4e86\u9006\u4f4d\u91cd\u590d\u8d77\u6e90\u7684\u65b0\u7ebf\u7d22<\/h4>\n    <\/div>\n    <div class=\"ac-content\">\n        <p>\n            \u6211\u4eec\u7814\u7a76\u4e86\u4e00\u5bb6\u6709\u4e24\u4e2a\u5b69\u5b50\u548c\u4ed6\u4eec\u7684\u7236\u4eb2\u5206\u79bb\u7684\u76f8\u540c\u7684 10 Mb \u9006\u91cd\u590d\uff0c\u6240\u6709\u4eba\u90fd\u8868\u73b0\u51fa\u4e09\u4f53\u67d3\u8272\u4f53\u8868\u578b\u7684\u5bb6\u65cf\u3002 FISH \u5206\u6790\u8bc1\u5b9e\u4e86\u91cd\u590d\u662f\u53cd\u8f6c\u7684\uff0c\u56e0\u6b64\u6839\u636e\u7ecf\u5178\u7684 inv dup del \u91cd\u6392\uff0c\u8fde\u7eed\u7684\u672b\u7aef\u7f3a\u5931\u4e5f\u53ef\u80fd\u5b58\u5728\u3002 \u4f7f\u7528 2p \u548c 2q \u4e9a\u672b\u7aef\u63a2\u9488\u7684 FISH \u5f97\u5230\u4e86\u6b63\u5e38\u7684\u7ed3\u679c\uff0c\u4f46\u662f\u4f7f\u7528 100 kb \u7684\u9635\u5217 CGH\uff08aCGH\uff09\u53d1\u73b0\u9664\u4e86\u91cd\u590d\u5916\u8fd8\u5b58\u5728 273 kb \u7684\u7f3a\u5931\u3002\u4ec5\u68c0\u6d4b\u5230\u4e00\u4e2a\u5177\u6709\u6b63\u5e38\u5bf9\u6570\u6bd4\u7684\u6709\u7528\u6591\u70b9\uff0c\u4f46\u662f\u9ad8\u5206\u8fa8\u7387 aCGH \u5206\u6790\uff08\u7ea6 20 kb\uff09\u8fdb\u4e00\u6b65\u6000\u7591\u5728\u7f3a\u5931\u533a\u57df\u548c\u91cd\u590d\u533a\u57df\u4e4b\u95f4\u5b58\u5728\u5355\u4e00\u62f7\u8d1d\u533a\u57df\u7684\u5b58\u5728\u3002 \u91cd\u6392\u7684\u51c6\u786e\u7ed3\u6784\u901a\u8fc7\u5b9e\u65f6 PCR \u548c\u65ad\u70b9\u514b\u9686\u91cd\u65b0\u5b9a\u4e49\uff0c\u5e76\u8bc1\u660e\u4e86\u7f3a\u5931\u533a\u57df\u548c\u91cd\u590d\u533a\u57df\u4e4b\u95f4\u5b58\u5728 2680 bp \u7684\u5355\u62f7\u8d1d\u5e8f\u5217\uff0c\u4ee5\u53ca\u53ef\u80fd\u5f62\u6210\u975e\u914d\u5bf9\u7684\u7b80\u5355\u91cd\u590d\u3002 \u8fd9\u79cd\u91cd\u6392\u4e0d\u662f\u901a\u8fc7\u5206\u6bb5\u91cd\u590d\u6216\u77ed\u7684\u53cd\u5411\u91cd\u590d\u4ecb\u5bfc\u7684\uff0c\u800c\u662f\u53ef\u80fd\u901a\u8fc7\u53cc\u94fe\u65ad\u88c2\u4fee\u590d\u800c\u8fdb\u884c\u975e\u540c\u6e90\u672b\u7aef\u8fde\u63a5\u6216\u5fae\u540c\u6e90\u4fee\u590d\u3002 \u8fd9\u4e9b\u6570\u636e\u5f3a\u8c03\u4e86\u4e0e\u9006\u4f4d\u91cd\u590d\u76f8\u5173\u7684\u4f34\u968f\u6027\u7f3a\u5931\u53d1\u751f\u9891\u7387\u8fdc\u9ad8\u4e8e\u4ec5\u901a\u8fc7\u7ecf\u5178\u7ec6\u80de\u9057\u4f20\u5b66\u65b9\u6cd5\u8bc1\u5b9e\u7684\u4e8b\u5b9e\u3002 \u6211\u4eec\u8ba8\u8bba\u4e86\u5176\u5bf9\u4e09\u4f53\u67d3\u8272\u4f53\u548c 2p \u672b\u7aef\u7f3a\u5931\u7684\u8868\u578b\u7684\u5f71\u54cd\u3002\n        <\/p>\n        <a href=\"https:\/\/www.nature.com\/articles\/ejhg2008160\">https:\/\/www.nature.com\/articles\/ejhg2008160<\/a>\n    <\/div>\n\n    <div class=\"ac-title\">\n        <h4>\u60a3\u67092p25\u91cd\u590d\u548c2q37\u7f3a\u5931\u7684\u60a3\u8005\u7684\u4e25\u91cd\u751f\u957f\u6fc0\u7d20\u7f3a\u4e4f\u75c7\u548c\u5782\u4f53\u7578\u5f62<\/h4>\n    <\/div>\n    <div class=\"ac-content\">\n        <p>\n            \u6211\u4eec\u62a5\u544a\u4e86\u4e00\u4e2a 4.8 \u5c81\u7684\u7537\u5b69\uff0c\u4ed6\u8868\u73b0\u51fa\u4e25\u91cd\u7684\u751f\u957f\u8fdf\u7f13\u3001\u751f\u957f\u6fc0\u7d20\uff08GH\uff09\u7f3a\u4e4f\u75c7\u3001\u4f34\u6709\u666e\u904d\u6027\u8bed\u8a00\u969c\u788d\u7684\u7cbe\u795e\u8fd0\u52a8\u8fdf\u7f13\u4ee5\u53ca\u72ec\u7279\u7684\u8868\u578b\u3002 \u901a\u8fc7 MRI \u8bc4\u4f30\u5782\u4f53-\u4e0b\u4e18\u8111\u533a\u57df\uff0c\u53d1\u73b0\u5782\u4f53\u67c4\u4e2d\u65ad\u548c\u5f02\u4f4d\u7684\u5782\u4f53\u540e\u53f6\uff0c\u8fd9\u4e9b\u88ab\u8ba4\u4e3a\u662f\u6c38\u4e45\u6027 GH \u7f3a\u5931\u7684\u9884\u540e\u6807\u5fd7\u3002 \u901a\u8fc7\u51fa\u751f\u524d\u67d3\u8272\u4f53\u5206\u6790\u53d1\u73b0\u9885\u90e8\u534a\u900f\u660e\u589e\u52a0\u7684\u60c5\u51b5\u4e0b\uff0c\u63ed\u793a\u51fa\u4e00\u4e2a\u6b63\u5e38\u7684\u7537\u6027\u6838\u578b\uff0c\u4f46\u662f\u51fa\u751f\u540e\u7684\u9ad8\u5206\u8fa8\u7387\u5e26\u72b6\u5206\u6790\u5f15\u8d77\u4e86\u5bf9 2q \u5f02\u5e38\u7684\u6000\u7591\u3002 \u968f\u540e\uff0c\u901a\u8fc7\u6570\u7ec4\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4\uff08aCGH\uff09\uff0c\u63ed\u793a\u4e86\u4e00\u4e2a\u65b0\u7684 de novo \u590d\u6742\u57fa\u56e0\u7ec4\u91cd\u6392\uff0c\u7531 2p25 \u91cd\u590d\u548c 2q37 \u7f3a\u5931\u7ec4\u6210\uff1aarr[hg19] 2p25.3p25.1(30,341-9,588,369)x3,2q37.2q37.3( 235,744,424-243,041,305)x1\u3002 FISH \u5206\u6790\u8868\u660e\uff0c\u5f02\u5e38\u67d3\u8272\u4f53 2 \u6a21\u4eff\u4e86\u5177\u6709\u91cd\u590d\u7684 2p \u533a\u57df\u7684\u53cd\u8f6c\u4f53\uff0c\u4f4d\u4e8e 2q \u7684\u8fdc\u7aef\u3002 \u636e\u6211\u4eec\u6240\u77e5\uff0c\u8fd9\u662f\u8fdc\u7aef 2p25 \u91cd\u590d\u548c 2q37 \u7f3a\u5931\u4ee5\u53ca\u5782\u4f53\u7578\u5f62\u5f15\u8d77 GH \u7f3a\u5931\u7684\u9996\u4f8b\u62a5\u9053\u3002\n        <\/p>\n        <a href=\"https:\/\/molecularcytogenetics.biomedcentral.com\/articles\/10.1186\/1755-8166-7-41\">https:\/\/molecularcytogenetics.biomedcentral.com\/articles\/10.1186\/1755-8166-7-41<\/a>\n    <\/div>\n\n    <div class=\"ac-title\">\n        <h4>\u4e0e\u80a5\u80d6\u3001\u667a\u529b\u969c\u788d\u548c\u591a\u52a8\u75c7\u65e9\u53d1\u6709\u5173\u76841.9 Mb 2p25.3 \u7ec8\u7aef de novo \u7f3a\u5931\u7684\u65b0\u60a3\u8005<\/h4>\n    <\/div>\n    <div class=\"ac-content\">\n        <p>\n            \u62a5\u544a\u4e86\u7ea6 18 \u4e2a\u60a3\u8005\uff0c\u4ed6\u4eec\u5171\u4eab\u4e0e\u667a\u529b\u969c\u788d\uff08ID\uff09\u548c\u884c\u4e3a\u95ee\u9898\u6709\u5173\u7684\u65e9\u671f\u80a5\u80d6\/\u8d85\u91cd\u7684\u4e34\u5e8a\u7279\u5f81\uff0c\u8fd9\u4e9b\u7279\u5f81\u901a\u5e38\u4e0e 2p \u4e9a\u672b\u7aef\u7f3a\u5931\u76f8\u5173\u3002 \u8fd9\u4e00\u89c2\u5bdf\u5bfc\u81f4\u4e86 MYT1L \u6210\u4e3a ID \u548c\u80a5\u80d6\u7684\u4e3b\u8981\u5019\u9009\u57fa\u56e0\u7684\u5047\u8bbe\uff0c\u56e0\u4e3a\u8fd9\u4e9b\u75c7\u72b6\u5df2\u7ecf\u5728\u6240\u6709\u5df2\u62a5\u9053\u7684\u6848\u4f8b\u4e2d\u51fa\u73b0\u4e86\u7f3a\u5931\u6216\u7834\u574f\u3002\n        <\/p>\n        <p>\n            \u6211\u4eec\u5728\u8fd9\u91cc\u63cf\u8ff0\u4e86\u4e00\u4e2a 4.4 \u5c81\u5973\u5b69\uff0c\u5979\u5177\u6709\u4e0e\u4e2d\u5ea6\u667a\u529b\u969c\u788d\u3001\u65e9\u671f\u53d1\u4f5c\u6027\u80a5\u80d6\u548c\u591a\u52a8\u75c7\u6709\u5173\u7684\u7279\u5f81\u8868\u578b\uff0c\u5e76\u4e14\u7531\u7236\u4eb2\u4f20\u9012\u7684 1.9Mb 2p25.3 de novo \u672b\u7aef\u7f3a\u5931\u901a\u8fc7\u9635\u5217 CGH \u5206\u6790\u68c0\u6d4b\u5230\u3002 \u6b64\u7f3a\u5931\u7834\u574f\u4e86 MYT1L\uff0c\u4ee5\u53ca\u53e6\u5916 5 \u4e2a OMIM \u57fa\u56e0 ACP1\u3001TMEM18\u3001SNTG2\u3001TPO \u548c PXDN\u3002\n        <\/p>\n        <p>\n            \u6211\u4eec\u5c06\u8ba8\u8bba\u4e0e 2p25.5 \u4e9a\u672b\u7aef\u7f3a\u5931\u76f8\u5173\u7684\u75c7\u72b6\u6027\u80a5\u80d6\u75c5\u7684\u75c5\u56e0\uff0c\u8fd9\u4e0e MYT1L \u7684\u90e8\u5206\u7f3a\u5931\u53ef\u80fd\u5339\u914d\u7684\u989d\u5916\u5355\u500d\u578b\u7f3a\u9677\u57fa\u56e0\u7684\u590d\u5408\u529f\u80fd\u6548\u5e94\u3002\n        <\/p>\n        <a href=\"https:\/\/molecularcytogenetics.biomedcentral.com\/articles\/10.1186\/1755-8166-7-53\">https:\/\/molecularcytogenetics.biomedcentral.com\/articles\/10.1186\/1755-8166-7-53<\/a>\n    <\/div>\n\n    <div class=\"ac-title\">\n        <h4>2q37 \u7f3a\u5931\u7efc\u5408\u5f81\uff1a14 \u4e2a\u65b0\u60a3\u8005\u7684\u6700\u65b0\u4e34\u5e8a\u8c31\u5305\u62ec\u8d85\u91cd\u3001\u77ed\u6307\u3001\u884c\u4e3a\u7279\u5f81<\/h4>\n    <\/div>\n    <div class=\"ac-content\">\n        <p>\n            2q37 \u57fa\u56e0\u5ea7\u662f\u6700\u5e38\u89c1\u7684\u4e9a\u672b\u7aef\u7f3a\u5931\u533a\u57df\u4e4b\u4e00\u3002 \u8fd9\u79cd\u7f3a\u5931\u5df2\u7ecf\u901a\u8fc7\u672b\u7aef\u86cd\u5149 in situ \u6742\u4ea4\uff08FISH\uff09\u5206\u6790\u5728\u8d85\u8fc7 100 \u540d\u60a3\u8005\u4e2d\u786e\u8ba4\uff0c\u5e76\u4e14\u867d\u7136\u9891\u7387\u8f83\u4f4e\uff0c\u4f46\u4e5f\u5df2\u901a\u8fc7\u57fa\u4e8e\u9635\u5217\u7684\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4\uff08aCGH\uff09\u786e\u8ba4\u3002 \u4ee5\u524d\u5df2\u7ecf\u62a5\u9053\u4e86\u8bc6\u522b\u7684 \u201c2q37 \u7f3a\u5931\u7efc\u5408\u5f81\u201d \u6216\u5965\u5c14\u5e03\u8d56\u7279\u9057\u4f20\u6027\u9aa8\u4ee3\u8c22\u5f02\u5e38\u6837\u7efc\u5408\u5f81\u3002 \u4e3a\u4e86\u66f4\u51c6\u786e\u5730\u5b9a\u4f4d\u8fd9\u79cd\u7f3a\u5931\uff0c\u5e76\u8fdb\u4e00\u6b65\u5b8c\u5584\u8fd9\u79cd\u7f3a\u5931\u7efc\u5408\u5f81\uff0c\u6211\u4eec\u4e0e\u6cd5\u56fd\u7ec6\u80de\u9057\u4f20\u5b66\u5bb6\u534f\u4f1a\u5408\u4f5c\uff0c\u6536\u96c6\u4e86 14 \u540d\u5177\u6709\u7279\u5f81\u6027\u667a\u529b\u969c\u788d\u3001\u9762\u90e8\u7578\u5f62\u75c7\uff0813\/14 \u4eba\uff09\u548c\u77ed\u6307\u75c7\uff0810\/14 \u4eba\uff09\u7684\u60a3\u8005\uff0c\u8fd9\u4e9b\u60a3\u8005\u4f34\u6709\u884c\u4e3a\u95ee\u9898\u3001\u81ea\u95ed\u75c7\u6216\u4e0d\u540c\u7a0b\u5ea6\u7684\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u3001\u8d85\u91cd\u6216\u80a5\u80d6\u3002 \u8fd9\u4e9b 14 \u4e2a\u65b0\u60a3\u8005\u7684\u7f3a\u5931\u8303\u56f4\u4e3a 2.6 \u5230 8.8 Mb\u3002 HDAC4 \u7684\u4e3b\u8981\u4f5c\u7528\u5df2\u7ecf\u5f97\u5230\u8bc1\u5b9e\uff0c\u4f46\u662f\u5176\u4ed6\u4e00\u4e9b\u57fa\u56e0\u5728\u7f3a\u5931\u533a\u57df\u4e2d\u7684\u8868\u578b\u53c2\u4e0e\u5c1a\u4e0d\u6e05\u695a\u3002 \u6211\u4eec\u8fdb\u4e00\u6b65\u7cbe\u786e\u5b9a\u4f4d\u4e86 2q37 \u7f3a\u5931\u7684\u57fa\u56e0\u578b\u548c\u8868\u578b\u76f8\u5173\u6027\u3002 \u4e3a\u6b64\uff0c\u6211\u4eec\u4f7f\u7528\u4e34\u5e8a\u6570\u636e\u3001\u6587\u732e\u56de\u987e\u4ee5\u53ca Manteia \u6570\u636e\u5e93\uff0c\u7814\u7a76\u4e86\u9aa8\u9abc\u7578\u5f62\uff08\u9762\u90e8\u7578\u5f62\u75c7\u548c\u77ed\u6307\u75c7\uff09\u3001\u8d85\u91cd\u3001\u884c\u4e3a\u95ee\u9898\u548c\u766b\u75eb\u7684\u5019\u9009\u57fa\u56e0\u7684\u6700\u5c0f\u91cd\u53e0\u7f3a\u5931\u533a\u57df\u3002 \u5728\u786e\u5b9a\u7684\u5019\u9009\u57fa\u56e0\u4e2d\uff0c\u6211\u4eec\u5c06\u91cd\u70b9\u653e\u5728 PRLH\u3001PER2\u3001TWIST2\u3001CAPN10\u3001KIF1A\u3001FARP2 \u548c D2HGDH \u7684\u89d2\u8272\u4e0a\u3002\n        <\/p>\n        <a href=\"https:\/\/www.nature.com\/articles\/ejhg2012230\">https:\/\/www.nature.com\/articles\/ejhg2012230<\/a>\n    <\/div>\n\n<div class=\"ac-title\">\n  <h4>2p25.1\u201325.3\u7684\u5bb6\u65cf\u6027\u9006\u4f4d\u91cd\u590d\/\u7f3a\u5931\u4e3a\u9006\u4f4d\u91cd\u590d\u7684\u8d77\u6e90\u63d0\u4f9b\u65b0\u7684\u7ebf\u7d22<\/h4>\n<\/div>\n<div class=\"ac-content\">\n  <p>\n\u6211\u4eec\u7814\u7a76\u4e86\u8868\u73b0\u4e3a\u4e09\u4f53\u578b\u7684\u4e00\u4e2a\u5bb6\u65cf\uff0c\u5176\u5305\u62ec\u4e86\u4e24\u4e2a\u5b50\u5973\u548c\u4ed6\u4eec\u7684\u7236\u4eb2\uff0c\u4ed6\u4eec\u57282p25.3-p25.1\u533a\u57df\u5177\u6709\u76f8\u540c\u768410 Mb\u9006\u5411\u91cd\u590d\u3002\u901a\u8fc7FISH\u5206\u6790\u8bc1\u5b9e\u4e86\u91cd\u590d\u7684\u9006\u8f6c\uff0c\u56e0\u6b64\u6211\u4eec\u63a8\u6d4b\u53ef\u80fd\u5b58\u5728\u8fde\u7eed\u7684\u672b\u7aef\u7f3a\u5931\uff0c\u9075\u5faa\u7ecf\u5178\u7684\u9006\u91cd\u590d\u5220\u9664\u91cd\u6392\u7c7b\u578b\u3002\u4f7f\u75282p\u548c2q\u4e9a\u672b\u7aef\u63a2\u9488\u7684FISH\u5206\u6790\u83b7\u5f97\u4e86\u6b63\u5e38\u7684\u7ed3\u679c\uff0c\u4f46\u5728100 kb\u7684aCGH\uff08\u9635\u5217CGH\uff09\u5206\u8fa8\u7387\u4e0b\uff0c\u8fd8\u663e\u793a\u51fa\u4e86273 kb\u7684\u7f3a\u5931\u5b58\u5728\u3002\u53ea\u68c0\u6d4b\u5230\u4e00\u4e2a\u5177\u6709\u6b63\u5e38\u5bf9\u6570\u6bd4\u7684\u6709\u7528\u70b9\uff0c\u4f46\u662f\u9ad8\u5206\u8fa8\u7387\u7684aCGH\u5206\u6790\uff08\u7ea620 kb\uff09\u8fdb\u4e00\u6b65\u6000\u7591\u7f3a\u5931\u533a\u57df\u548c\u91cd\u590d\u533a\u57df\u4e4b\u95f4\u5b58\u5728\u5355\u62f7\u8d1d\u533a\u57df\u3002\u91cd\u6392\u7684\u786e\u5207\u7ed3\u6784\u662f\u901a\u8fc7\u5b9e\u65f6PCR\u548c\u65ad\u70b9\u514b\u9686\u91cd\u65b0\u5b9a\u4e49\u7684\uff0c\u5e76\u4e14\u8bc1\u660e\u4e86\u5728\u7f3a\u5931\u533a\u57df\u548c\u91cd\u590d\u533a\u57df\u4e4b\u95f4\u5b58\u5728\u7740\u4e00\u4e2a2680 bp\u7684\u5355\u62f7\u8d1d\u5e8f\u5217\uff0c\u4ee5\u53ca\u6d89\u53ca\u5f62\u6210\u975e\u5e8f\u5217\u5316\u7684\u7b80\u5355\u91cd\u590d\u7684\u53ef\u80fd\u6027\u3002\u8fd9\u79cd\u91cd\u6392\u4e0d\u662f\u901a\u8fc7\u5206\u6bb5\u91cd\u590d\u6216\u77ed\u9006\u5411\u91cd\u590d\u4ecb\u5bfc\u7684\uff0c\u53cc\u94fe\u65ad\u88c2\u53ef\u80fd\u662f\u901a\u8fc7\u975e\u540c\u6e90\u672b\u7aef\u8fde\u63a5\u6216\u5fae\u578b\u540c\u6e90\u4fee\u590d\u94fe\u5185\u4fee\u590d\u7684\u3002\u8fd9\u4e9b\u6570\u636e\u5f3a\u8c03\u4e86\u4e0e\u9006\u4f4d\u91cd\u590d\u76f8\u5173\u7684\u9644\u52a0\u7f3a\u5931\u6bd4\u4ec5\u901a\u8fc7\u7ecf\u5178\u7684\u7ec6\u80de\u9057\u4f20\u5b66\u65b9\u6cd5\u9a8c\u8bc1\u7684\u66f4\u9891\u7e41\u5730\u53d1\u751f\u7684\u53ef\u80fd\u6027\u975e\u5e38\u9ad8\u3002\u6211\u4eec\u8ba8\u8bba\u4e86\u5bf9\u4e09\u4f53\u578b\u548c2p\u672b\u7aef\u7f3a\u5931\u7684\u8868\u73b0\u578b\u7684\u5f71\u54cd\u3002\n<\/p>\n  <a href=\"https:\/\/www.nature.com\/articles\/ejhg2008160\">https:\/\/www.nature.com\/articles\/ejhg2008160<\/a>\n<\/div>\n\n<div class=\"ac-title\">\n  <h4>2q\u672b\u7aef\u7f3a\u5931\uff1a6\u4e2a\u65b0\u60a3\u8005\u7684\u62a5\u544a\u53ca66\u4f8b\u8868\u578b\u548c\u65ad\u70b9\u7684\u76f8\u5173\u6027\u56de\u987e<\/h4>\n<\/div>\n<div class=\"ac-content\">\n  <p>\n\u6211\u4eec\u62a5\u544a\u4e86\u4e24\u4e2a\u65b0\u60a3\u8005\uff0c\u5176\u5177\u67092\u53f7\u67d3\u8272\u4f53\u672b\u7aef\u7f3a\u5931\u7684\u5207\u65ad\u70b9\u4f4d\u4e8e2q36\uff0c\u4ee5\u53ca\u53e6\u5916\u4e94\u4e2a\u65b0\u60a3\u8005\uff0c\u5176\u5177\u6709\u5207\u65ad\u70b9\u4f4d\u4e8e2q37\u76842q\u672b\u7aef\u7f3a\u5931\u3002\u5176\u4e2d\uff0c\u4e00\u4e2a\u60a3\u8005\u5177\u67092q37.1\u7684\u65ad\u70b9\uff0c\u8868\u73b0\u4e3a\u5355\u4fa7\u6a2a\u8188\u759d\uff0c\u8fd9\u662f\u4e00\u79cd\u65b0\u7684\u53d1\u73b0\u3002\u4e0e\u5148\u524d\u62a5\u544a\u768460\u4f8b\u5177\u67092q\u672b\u7aef\u7f3a\u5931\u7684\u60a3\u8005\u76f8\u6bd4\uff0c\u6211\u4eec\u53d1\u73b0\u7279\u5b9a\u7684\u8eab\u4f53\u5f02\u5e38\u4e0e\u65ad\u70b9\u7684\u4f4d\u7f6e\u5927\u81f4\u76f8\u5173\u3002\u4f8b\u5982\uff0c\u5728\u5177\u67092q37.3\u6216\u5176\u8fd1\u4f4d\u7684\u65ad\u70b9\u7684\u60a3\u8005\u4e2d\uff0c\u7ecf\u5e38\u89c2\u5bdf\u5230\u9762\u90e8\u7279\u5f81\uff08\u4f8b\u5982\uff1a\u51f8\u989d\uff0c\u9f3b\u6881\u4e0b\u964d\uff0c\u8033\u6735\u548c\u9f3b\u5b50\u7578\u5f62\uff09\uff0c\u77ee\u5c0f\uff0c\u624b\u811a\u77ed\u3002\u9a6c\u8e44\u5f62\u80be\u548cWilms\u80bf\u7624\u7684\u62a5\u544a\u4ec5\u9650\u4e8e\u5177\u67092q37.1\u65ad\u70b9\u7684\u60a3\u8005\uff0c\u5e76\u4e14\u7ed3\u6784\u6027\u8111\u5f02\u5e38\u548c\u6c14\u7ba1\u5f02\u5e38\u4ec5\u5728\u5177\u67092q37.1\u6216\u5176\u8fd1\u65c1\u7684\u65ad\u70b9\u7684\u60a3\u8005\u4e2d\u62a5\u544a\u3002\u5507\u816d\u88c2\u4ec5\u5728\u5177\u6709\u6700\u8fd1\u7684\u65ad\u70b9\uff082q36\u62162q35\uff09\u7684\u60a3\u8005\u4e2d\u62a5\u544a\u3002\u5728\u8fd9\u7ec4\u60a3\u8005\u4e2d\uff0c\u795e\u7ecf\u5b66\u5f71\u54cd\uff0c\u5982\u53d1\u80b2\u8fdf\u7f13\uff0c\u667a\u529b\u969c\u788d\uff0c\u81ea\u95ed\u75c7\u6837\u884c\u4e3a\uff0c\u808c\u5f20\u529b\u4e0b\u964d\u7b49\u662f\u5178\u578b\u7684\uff0c\u4f46\u6ca1\u6709\u6839\u636e\u65ad\u70b9\u8fdb\u884c\u4e25\u91cd\u7a0b\u5ea6\u7684\u5206\u5c42\u3002\u56e0\u6b64\uff0c\u8003\u8651\u5230\u5177\u6709\u672b\u7aef2p\u7f3a\u5931\u7684\u5a74\u513f\uff0c\u5177\u6709\u660e\u663e\u7684\u808c\u5f20\u529b\u4e0b\u964d\uff0c\u54fa\u4e73\u4e0d\u826f\uff0c\u80c3\u98df\u7ba1\u9006\u6d41\uff0c\u53d1\u80b2\u8fdf\u7f13\uff0c\u81ea\u95ed\u75c7\u6837\u884c\u4e3a\uff0c\u4ee5\u53ca\u5728\u672c\u8bf4\u660e\u4e2d\u63cf\u8ff0\u7684\u9762\u90e8\u548c\u76ae\u80a4\u7279\u5f81\u7684\u5e7c\u513f\uff0c\u9700\u8981\u8003\u8651\u52302\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u672b\u7aef\u7f3a\u5931\u3002\u5c06\u4e34\u5e8a\u7279\u5f81\u5206\u914d\u7ed9\u7279\u5b9a\u7684\u65ad\u70b9\u5e76\u6539\u8fdb\u9884\u6d4b\u53ef\u80fd\u6709\u52a9\u4e8e\u54a8\u8be2\u3002\n<\/p>\n  <a href=\"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30156\">https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30156<\/a>\n<\/div>\n\n<div class=\"ac-title\">\n  <h4>2q37.3 de novo \u4e9a\u672b\u7aef\u7f3a\u5931\u7684\u9635\u5217CGH\u5206\u6790\u548c\u4e34\u5e8a\u63cf\u8ff0<\/h4>\n<\/div>\n<div class=\"ac-content\">\n  <p>\n\u6211\u4eec\u62a5\u544a\u4e86\u4e00\u4e2a13\u5c81\u5973\u5b69\u7684\u75c5\u4f8b\uff0c\u5979\u5177\u6709\u6b63\u5e38\u6838\u578b\uff0c\u5e76\u4e14\u901a\u8fc7\u4e9a\u672b\u7aefFISH\u5206\u6790\u68c0\u6d4b\u52302q\u67d3\u8272\u4f53\u7684\u65b0\u6f5c\u5728\u672b\u7aef\u7f3a\u5931\u3002\u901a\u8fc7\u4f7f\u75281 Mb\u5206\u8fa8\u7387\u7684Spectral Chip 2600\uff08Spectral Genomics\uff09\u8fdb\u884c\u7684\u9635\u5217CGH\u5206\u6790\u8fdb\u4e00\u6b65\u7814\u7a76\u4e86\u7f3a\u5931\uff0c\u5e76\u663e\u793a\u4e86\u53e6\u59164\u4e2a\u514b\u9686\u7684\u7f3a\u5931\u3002\u5728\u9635\u5217CGH\u4e2d\u672a\u68c0\u6d4b\u5230\u5176\u4ed6\u5f02\u5e38\u3002\u901a\u8fc7\u4f7f\u75288\u4e2aBAC\u63a2\u9488\u8fdb\u884c\u7684FISH\u7814\u7a76\uff0c\u4ee5\u5bf9\u7f3a\u5931\u7684\u8be6\u7ec6\u6620\u5c04\uff0c\u9a8c\u8bc1\u4e86\u9635\u5217\u7684\u7ed3\u679c\u3002\u901a\u8fc7FISH\u5206\u6790\uff0c\u786e\u5b9a\u4e86\u7f3a\u5931\u65ad\u88c2\u70b9\u4f4d\u4e8e\u514b\u9686RP11-84G18\u548cRP11-83N2\u4e4b\u95f4\uff08\u7269\u7406\u8ddd\u79bb\u4e3a0.36Mb\uff09\uff0c\u5e76\u4e14\u5ef6\u4f38\u5230\u7aef\u7c92\u3002\u7f3a\u5931\u7684\u5927\u5c0f\u4f30\u8ba1\u7ea6\u4e3a6.4\u81f36.7 Mb\u3002\u4e34\u5e8a\u8868\u73b0\u5305\u62ec\u53d1\u80b2\u8fdf\u7f13\uff0c\u4e25\u91cd\u884c\u4e3a\u969c\u788d\uff0c\u751f\u957f\u671f\u5ef6\u8fdf\uff0c\u5148\u5929\u6027\u8f7b\u5ea6\u4f20\u5bfc\u6027\u542c\u529b\u4e0b\u964d\uff0c\u751f\u957f\u6fc0\u7d20\u7f3a\u4e4f\uff0c\u4ee3\u507f\u6027\u7532\u72b6\u817a\u529f\u80fd\u4f4e\u4e0b\uff0c\u9762\u90e8\u7578\u5f62\uff0c\u5173\u8282\u8fc7\u5ea6\u6d3b\u52a8\uff0c\u77ed\u4e2d\u6307\u9aa8\uff0c\u5f02\u5e38\u76ae\u80a4\u7622\u75d5\uff0c\u4ee5\u53ca\u65b0\u751f\u513f\u5589\u8f6f\u5316\u75c7\uff0c\u808c\u5f20\u529b\u4e0b\u964d\uff0c\u8110\u759d\u3002\u6211\u4eec\u60a3\u8005\u7684\u8868\u578b\u4e0e\u6587\u732e\u4e2d\u7684\u8868\u578b\u4e00\u81f4\uff0c\u9664\u4e86\u672a\u89c2\u5bdf\u5230\u5fc3\u8840\u7ba1\uff0c\u6ccc\u5c3f\u751f\u6b96\u5668\u548c\u795e\u7ecf\u5b66\u5f02\u5e38\u4ee5\u53ca\u6e7f\u75b9\u4e4b\u5916\u3002\u901a\u8fc7\u62a5\u544a\u7c7b\u4f3c\u75c5\u4f8b\u7684\u4e34\u5e8a\u548c\u5206\u5b50\u75c7\u72b6\uff0c\u53ef\u4ee5\u5b9e\u73b0\u8868\u578b\u548c\u9057\u4f20\u578b\u7684\u51c6\u786e\u76f8\u5173\uff0c\u4ee5\u53ca\u5bb6\u5ead\u9002\u5f53\u7684\u9057\u4f20\u54a8\u8be2\u3002\n<\/p>\n  <a href=\"https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S1769721206001005?via%3Dihub\">https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S1769721206001005?via%3Dihub<\/a>\n<\/div>\n\n<div class=\"ac-title\">\n  <h4>\u9635\u5217\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4\u4f7f\u7528\u9884\u6d4b\u6ed1\u8111\u75c7\u548c2p25.3\u548c2q37.3\u5fae\u5c0f\u7f3a\u5931\u7684\u73af\u72b6\u67d3\u8272\u4f53\u7684\u4ea7\u524d\u8bca\u65ad<\/h4>\n<\/div>\n<div class=\"ac-content\">\n  <p>\u6211\u4eec\u63d0\u4f9b\u4e86\u4f7f\u7528IUGR\uff0c\u5c0f\u5934\u7578\u5f62\uff0c\u6ed1\u8111\u75c7\u548c\u4e0d\u660e\u751f\u6b96\u5668\u7684\u672a\u51fa\u751f\u7f8a\u819c\u7ec6\u80de\u7684aCGH\u8fdb\u884c2p25.3\u548c2q37.3\u5fae\u5c0f\u7f3a\u5931\u7684\u73af\u72b6\u67d3\u8272\u4f53\u5f02\u67d3\u6027\u5feb\u901f\u8bca\u65ad\u7684\u6848\u4f8b\u3002\u6211\u4eec\u7684\u75c5\u4f8b\u57282p25.3\u548c2q37.3\u5fae\u5c0f\u7f3a\u5931\u7684\u57fa\u7840\u4e0a\uff0c\u65b0\u589e\u4e86\u6ed1\u8111\u75c7\u7684CNS\u5f02\u5e38\u5217\u8868\u3002\u5728\u8fd9\u79cd\u60c5\u51b5\u4e0b\uff0c\u6211\u4eec\u8ba8\u8bba\u4e86\u4f4d\u4e8e2q37.3\u7684HDAC4\u3001KIF1A\u3001PASK\u3001HDLBP\u3001FRAP2\u548cD2HGDH\u7684\u5355\u62f7\u8d1d\u7f3a\u5931\uff0c\u4ee5\u53ca\u4f4d\u4e8e2p25.3\u7684MYT1L\u3001SNTG2\u548cTPO\u7684\u5355\u62f7\u8d1d\u7f3a\u5931\u7684\u5f71\u54cd\u3002\n<\/p>\n  <a href=\"https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S0378111913001285?via%3Dihub\">https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S0378111913001285?via%3Dihub<\/a>\n<\/div>\n\n<div class=\"ac-title\">\n  <h4>\u54e5\u4f26\u6bd4\u4e9a\u5927\u5934\u75c7\u60a3\u8005\u76842q37\u7f3a\u5931\u7efc\u5408\u75c7\uff1a\u75c5\u4f8b\u62a5\u544a<\/h4>\n<\/div>\n<div class=\"ac-content\">\n  <p>\n\u80cc\u666f<br>\n2q37\u7f3a\u5931\u7efc\u5408\u5f81\u662f\u4e00\u79cd\u7f55\u89c1\u7684\u5e38\u67d3\u8272\u4f53\u663e\u6027\u75be\u75c5\uff0c\u75312q37\u533a\u7684\u7f3a\u5931\u5f15\u8d77\uff0c\u5f15\u8d77\u53d1\u80b2\u8fdf\u7f13\uff0c\u667a\u529b\u969c\u788d\uff0c\u884c\u4e3a\u5f02\u5e38\u548c\u9885\u9762\u7578\u5f62\uff0c\u5168\u7403\u5df2\u62a5\u544a\u4e86115\u4f8b\u4ee5\u4e0a\u7684\u60a3\u8005\u3002<br>\n\u6848\u4f8b\u4ecb\u7ecd<br>\n\u6211\u4eec\u62a5\u544a\u4e86\u4e00\u4e2a3\u5c81\u7684\u54e5\u4f26\u6bd4\u4e9a\u60a3\u8005\uff0c\u4ed6\u60a3\u6709\u8bed\u8a00\u4ea4\u6d41\u8fdf\u7f13\uff0c\u8110\u759d\uff0c\u9762\u90e8\u7578\u5f62\uff0c\u808c\u5f20\u529b\u4f4e\u4e0b\u548c\u5927\u5934\u75c7\uff0c\u5e76\u901a\u8fc7\u6b63\u5e38\u6838\u78c1\u5171\u632f\u6210\u50cf\u6cd5\u8fdb\u884c\u4e86\u62a5\u544a\u3002\u57fa\u4e8e\u5fae\u9635\u5217\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4\u7684\u57fa\u56e0\u7ec4\u5206\u6790\uff0c\u53d1\u73b0\u4e862q37.2\u548c2q37.3\u533a\u57df\u76845.9Mb\u7f3a\u5931\uff0c\u5e76\u5220\u9664\u4e8660\u4e2a\u86cb\u767d\u8d28\u7f16\u7801\u57fa\u56e0\uff0c\u4ece\u800c\u4f7f\u8be5\u60a3\u8005\u76842q37\u7f3a\u5931\u7efc\u5408\u5f81\u5f97\u4ee5\u8bca\u65ad\u3002\u8fc4\u4eca\u4e3a\u6b62\u7684\u6cbb\u7597\u5e72\u9884\u662f\u5916\u79d1\u77eb\u6b63\u8110\u759d\u3002<br>\n\u7ed3\u8bba<br>\n\u57fa\u56e0\u68c0\u6d4b\u662f\u8bca\u65ad\u4e34\u5e8a\u590d\u6742\u4e14\u7f55\u89c1\u75c7\u72b6\u4ee5\u53ca\u63d0\u4f9b\u53ca\u65f6\u8bca\u65ad\u4ee5\u652f\u6301\u9002\u5f53\u7684\u76d1\u6d4b\uff0c\u5e72\u9884\u548c\u9057\u4f20\u54a8\u8be2\u7684\u91cd\u8981\u5de5\u5177\u3002\u8fd9\u4e00\u6848\u4f8b\u8fd8\u63d0\u4f9b\u4e86\u6709\u51732q37\u7f3a\u5931\u7efc\u5408\u5f81\u8868\u578b\u548c\u9057\u4f20\u7279\u5f81\u7684\u6269\u5c55\u4fe1\u606f\u3002\n<\/p>\n  <a href=\"https:\/\/bmcpediatr.biomedcentral.com\/articles\/10.1186\/s12887-022-03620-8\">https:\/\/bmcpediatr.biomedcentral.com\/articles\/10.1186\/s12887-022-03620-8<\/a>\n<\/div>\n<\/div>\n\n\n\n<div>\n  <h3>3 p \u7f3a\u5931<\/h3>\n  <div class=\"ac-title\">\n    <h4>\u77e5\u7684\u969c\u5bb3\u548c\u7578\u5f62\u7279\u5f81\u60a3\u8005\u4e2d\u7684 3p25.3 \u7f3a\u5931\u4ee5\u53ca\u91cd\u8981\u533a\u57df\u7684\u8fdb\u4e00\u6b65\u5b9a\u4e49<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\n      \u6700\u8fd1\uff0c\u6709\u5173 3 \u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u672b\u7aef\u95f4\u8d28\u6027\u7f3a\u5931\u7684\u51e0\u4efd\u62a5\u544a\uff0c\u8fd9\u4e9b\u7f3a\u5931\u6709\u52a9\u4e8e\u786e\u5b9a\u5bfc\u81f4 3p \u7f3a\u5931\u7efc\u5408\u5f81\u7684\u5173\u952e\u533a\u57df\u3002\u6211\u4eec\u62a5\u544a\u4e86\u4e00\u4e2a 11 \u5c81\u5973\u7ae5\u7684\u6848\u4f8b\uff0c\u5979\u5177\u6709\u667a\u529b\u969c\u788d\u3001\u5f3a\u8feb\u503e\u5411\u3001\u808c\u5f20\u529b\u964d\u4f4e\u548c\u7578\u5f62\u9762\u5bb9\uff0c\u901a\u8fc7\u9635\u5217\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4\u6280\u672f\u7279\u5f81\u5316\u4e86\u4e00\u4e2a 684kb \u7684 3p25.3 \u95f4\u8d28\u6027\u7f3a\u5931\u3002\u8fd9\u4e2a\u7f3a\u5931\u4e0e\u6700\u8fd1\u62a5\u9053\u7684\u4e09\u4e2a 3p25 \u95f4\u8d28\u6027\u7f3a\u5931\u91cd\u53e0\u3002\u8fd9\u4e9b\u7f3a\u5931\u5171\u4eab\u4e00\u4e2a\u5305\u542b\u4e09\u4e2a RefSeq \u6ce8\u91ca\u7684\u57fa\u56e0\uff08THUMPD3\u3001SETD5\u3001LOC440944\uff09\u7684 124kb \u91cd\u53e0\u533a\u57df\u3002\u5c3d\u7ba1\u8fd9\u4e2a\u75c5\u4f8b\u7684\u8868\u578b\uff0c\u5982\u667a\u529b\u969c\u788d\u3001\u808c\u5f20\u529b\u964d\u4f4e\u3001\u51f9\u9677\u7684\u9f3b\u6881\u548c\u957f\u4e0b\u988c\u7b49\u4e0e\u4e4b\u524d\u62a5\u9053\u7684\u7c7b\u4f3c\uff0c\u4f46\u672a\u89c2\u5bdf\u5230\u4e0e\u62e5\u6709\u66f4\u5927\u7f3a\u5931\u7684\u75c5\u4f8b\u76f8\u5173\u7684\u5fc3\u810f\u7f3a\u9677\u3001\u766b\u75eb\u548c\u5c0f\u5934\u7578\u5f62\u3002\u56e0\u6b64\uff0c\u8fd9\u4e00\u60a3\u8005\u4e0d\u4ec5\u6697\u793a\u4e86\u57fa\u56e0\u578b\u548c\u8868\u578b\u4e4b\u95f4\u7684\u5173\u8054\uff0c\u8fd8\u8fdb\u4e00\u6b65\u52a0\u6df1\u4e86\u6211\u4eec\u5bf9 3p \u7f3a\u5931\u7ed3\u679c\u7684\u4e86\u89e3\u3002\n    <\/p>\n    <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/23613140\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/23613140\/<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>\u8fdc\u7aef 3p \u7f3a\u5931\u7efc\u5408\u5f81\uff1a\u4e09\u4e2a\u5c0f\u7684\u8fdc\u7aef\u7f3a\u5931\u7684\u8be6\u7ec6\u5206\u5b50\u7ec6\u80de\u9057\u4f20\u5b66\u548c\u4e34\u5e8a\u7279\u5f81\u53ca\u7efc\u8ff0<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\n      \u8fdc\u7aef 3p \u7f3a\u5931\u7efc\u5408\u5f81\u5177\u6709\u53d1\u80b2\u8fdf\u7f13\u3001\u4f4e\u51fa\u751f\u4f53\u91cd\u3001\u751f\u957f\u8fdf\u7f13\u3001\u5c0f\u5934\u7578\u5f62\u3001\u81c2\u7578\u5f62\u3001\u773c\u7751\u4e0b\u5782\u3001\u957f\u5634\u5507\u3001\u5c0f\u4e0b\u5df4\u548c\u4f4e\u4f4d\u8033\u7b49\u7279\u5f81\u3002\u6211\u4eec\u5229\u7528 FISH \u548c BAC \u65b9\u6cd5\u8be6\u7ec6\u6620\u5c04\u4e86\u4e09\u4e2a 3p \u7f3a\u5931\u3002\u8fd9\u4e9b\u7f3a\u5931\u7684\u5927\u5c0f\u4e3a 10.2-11 Mb\uff0c\u5305\u542b\u4e86 47-51 \u4e2a\u5df2\u77e5\u57fa\u56e0\uff0c\u5176\u4e2d\u5305\u62ec VHL \u57fa\u56e0\u3002\u5176\u4e2d\u4e00\u4e2a\u7f3a\u5931\u662f\u95f4\u8d28\u6027\u7684\uff0c\u800c 3p \u7aef\u7aef\u662f\u5b8c\u597d\u7684\u3002\u5728\u8fc7\u53bb\u62a5\u544a\u7684 9 \u4f8b\u60a3\u8005\u4e2d\uff0c\u901a\u8fc7\u5206\u5b50\u7ec6\u80de\u9057\u4f20\u5b66\u6216\u5206\u5b50\u7ec6\u80de\u9057\u4f20\u5b66\u65b9\u6cd5\u4f30\u8ba1\u4e86\u7f3a\u5931\u7684\u5927\u5c0f\u3002\u6211\u4eec\u6bd4\u8f83\u548c\u8ba8\u8bba\u4e86\u8fd9\u4e9b\u75c5\u4f8b\u7684\u57fa\u56e0\u578b\u548c\u8868\u578b\uff0c\u5305\u62ec\u6ce8\u610f\u529b\u7684\u9057\u4f20\u7269\u8d28\u548c\u8868\u8fbe\u578b\u3002\u6211\u4eec\u7684\u4e00\u4e2a\u60a3\u8005\u7684\u8fd1\u7aef\u65ad\u88c2\u70b9\u7684\u5b9a\u4f4d\u6697\u793a\u4e86\u4e00\u4e2a\u4ee5\u524d\u9274\u5b9a\u7684\u5fc3\u810f\u7f3a\u9677\u7684\u4e34\u754c\u533a\u57df\uff0c\u76ee\u524d\u5df2\u7f29\u5c0f\u5230\u5305\u542b\u4e09\u4e2a\u5019\u9009\u57fa\u56e0\u3002\u6b64\u5916\uff0c\u4ec5 ATP2B2 \u57fa\u56e0\u7684\u7f3a\u5931\u5e76\u4e0d\u8db3\u4ee5\u5f15\u8d77 3p \u7f3a\u5931\u60a3\u8005\u5e38\u89c1\u7684\u542c\u529b\u969c\u788d\u3002\u8fd9\u662f\u62a5\u9053\u7684\u7b2c\u4e09\u4e2a\u95f4\u8d28\u6027 3p \u7f3a\u5931\u7684\u6848\u4f8b\u3002\n    <\/p>\n    <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/17696125\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/17696125\/<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>\u5177\u6709 3p \u7f3a\u5931\u7efc\u5408\u5f81\u7279\u5f81\u7684\u60a3\u8005\u4e2d\u7684 3p25 \u5fae\u5c0f\u7f3a\u5931<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\n      \u7a00\u6709\u7684 3p \u7f3a\u5931\u7efc\u5408\u5f81\u5c55\u793a\u4e86\u7531 3 \u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u5404\u79cd\u957f\u5ea6\u7684\u7f3a\u5931\u5f15\u8d77\u7684\u5f02\u5e38\u7684\u8303\u56f4\u3002\u5176\u4e2d\u8bb8\u591a\u7f3a\u5931\u6d89\u53ca 3p \u672b\u7aef\uff0c\u4f46\u95f4\u8d28\u6027\u7f3a\u5931\u4e5f\u53ef\u80fd\u5bfc\u81f4\u8fd9\u79cd\u7efc\u5408\u5f81\u3002\u6211\u4eec\u68c0\u6d4b\u5230\u4e00\u4e2a 643kb \u7684\u95f4\u8d28\u6027\u7f3a\u5931\uff0c\u5728\u8868\u73b0\u51fa\u8bb8\u591a\u5178\u578b 3p \u7f3a\u5931\u7279\u5f81\u7684\u60a3\u8005\u4e2d\u3002\u8fd9\u4f4d\u60a3\u8005\u5177\u6709\u4e0e\u5148\u524d\u62a5\u9053\u7684\u5177\u6709 1.6Mb \u95f4\u8d28\u6027\u7f3a\u5931\u7684\u60a3\u8005\u5171\u4eab\u7684\u8bb8\u591a\u7279\u5f81\uff0c\u5176\u4e2d\u5305\u62ec\u8ba4\u77e5\u969c\u788d\u3001\u766b\u75eb\u548c\u5148\u5929\u6027\u5fc3\u810f\u7f3a\u9677\u3002518kb \u91cd\u53e0\u533a\u57df\u542b\u6709 12 \u4e2a\u57fa\u56e0\uff0c\u5df2\u8bc1\u660e\u8fd9\u4e9b\u7279\u5f81\u4e2d\u7684\u4e00\u4e9b\u5bf9\u5e94\u4e8e\u91cd\u8981\u533a\u57df\u3002\u6211\u4eec\u8ba8\u8bba\u4e86 CRELD1\u3001SRGAP3\u3001CAMK1\u3001TADA3\u3001MTMR14 \u7b49\u4e00\u4e9b\u57fa\u56e0\u7684\u4f30\u8ba1\u529f\u80fd\uff0c\u8fd9\u4e9b\u57fa\u56e0\u53ef\u80fd\u4e0e 3p \u7f3a\u5931\u7efc\u5408\u5f81\u7684\u8868\u73b0\u578b\u76f8\u5173\u3002\u6211\u4eec\u7684\u7814\u7a76\u8868\u660e\uff0c\u8fd9\u4e2a 518kb \u7684\u91cd\u53e0\u533a\u57df\u53ef\u80fd\u51b3\u5b9a\u4e86\u5f15\u8d77 3p \u7f3a\u5931\u7efc\u5408\u5f81\u8868\u578b\u7684\u91cd\u8981\u533a\u57df\u3002\n    <\/p>\n    <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/22903836\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/22903836\/<\/a>\n  <\/div>\n  \n <div class=\"ac-title\">\n    <h4>\u4e24\u4e2a\u5bb6\u7cfb\u4e2d\u7684\u672b\u7aef 3p \u7f3a\u5931&#8211;\u6838\u578b\u4e0e\u8868\u578b\u7684\u76f8\u5173\u6027<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\n      3p \u7f3a\u5931\u7efc\u5408\u5f81\u662f\u4e00\u79cd\u7531 3p25-pter \u533a\u57df\u4e0d\u540c\u5927\u5c0f\u7684\u7f3a\u5931\u5f15\u8d77\u7684\u7f55\u89c1\u75be\u75c5\u3002\u5b83\u4ee5\u751f\u957f\u8fdf\u7f13\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u8fdf\u949d\u3001\u7578\u5f62\u3001\u5c0f\u5934\u7578\u5f62\u3001\u773c\u7751\u4e0b\u5782\u4e3a\u7279\u5f81\u3002\u60a3\u8005\u8868\u73b0\u578b\u4ece\u6b63\u5e38\u5230\u4e25\u91cd\u4e0d\u7b49\u3002\u5927\u591a\u6570\u60c5\u51b5\u662f de novo \u7684\uff0c\u4f46\u4e5f\u62a5\u544a\u4e86\u5c11\u6570\u5bb6\u65cf\u6027\u75c5\u4f8b\u3002\u6211\u4eec\u63cf\u8ff0\u4e86\u4e24\u4e2a\u5177\u6709\u672b\u7aef 3p \u7f3a\u5931\u5e76\u4e14\u5177\u6709\u975e\u5e38\u591a\u6837\u5316\u7684\u4e34\u5e8a\u7279\u5f81\u7684\u5bb6\u65cf\u3002\u5728 A \u5bb6\u65cf\u4e2d\uff0c\u6bcd\u4eb2\u548c\u5973\u513f\u75c7\u72b6\u8f7b\u5fae\uff0c\u800c\u513f\u5b50\u75c7\u72b6\u8f83\u91cd\u3002\u5728 B \u5bb6\u65cf\u4e2d\uff0c\u6bcd\u4eb2\u6b63\u5e38\uff0c\u800c\u513f\u5b50\u7f79\u60a3\uff0c\u4e14\u8868\u73b0\u51fa\u8fc7\u53bb\u672a\u62a5\u544a\u7684 3p \u7f3a\u5931\u7efc\u5408\u5f81\u75c7\u72b6\u3002\u901a\u8fc7\u57fa\u56e0\u7ec4\u8303\u56f4\u7684 SNP \u9635\u5217\u5206\u6790\u6765\u8868\u5f81\u7f3a\u5931\uff0c\u5927\u5c0f\u5206\u522b\u4e3a 9Mb \u548c 1.1Mb\u3002\u5728 CHL1\u3001CNTN4\u3001CRBN \u57fa\u56e0\u7684\u78b1\u57fa\u5e8f\u5217\u5206\u6790\u4e2d\uff0c\u6ca1\u6709\u53d1\u73b0\u53ef\u4ee5\u89e3\u91ca proband \u66f4\u4e25\u91cd\u8868\u578b\u7684\u6f5c\u5728\u9690\u6027\u53d8\u5f02\u3002\u5728 A \u5bb6\u65cf\u4e2d\uff0c9Mb \u7f3a\u5931\u88ab\u8ba4\u4e3a\u662f proband 3p \u7f3a\u5931\u7efc\u5408\u5f81\u7684\u539f\u56e0\uff0c\u4f46\u5176\u4ed6\u5bb6\u65cf\u4e2d\u7684\u8f7b\u5ea6\u8868\u578b\u4ecd\u7136\u65e0\u6cd5\u89e3\u91ca\u3002\u5728 B \u5bb6\u65cf\u4e2d\uff0c1.1Mb \u7684\u672b\u7aef\u7f3a\u5931\u4ec5\u5305\u542b CHL1 \u57fa\u56e0\uff0c\u4e0d\u8db3\u4ee5\u5f15\u8d77 3p \u7f3a\u5931\u75c7\u72b6\u3002\u8fd9\u662f\u56e0\u4e3a\u4e0d\u80fd\u6839\u636e\u67d3\u8272\u4f53\u6216\u57fa\u56e0\u7ec4\u8303\u56f4\u7684\u5206\u6790\u7ed3\u679c\u6765\u9884\u6d4b\u540e\u4ee3\u7684\u8868\u578b\u3002\n    <\/p>\n    <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/20101686\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/20101686\/<\/a>\n  <\/div>\n  \n  \n  <div class=\"ac-title\">\n    <h4>3p25.3 \u5e26\u7f3a\u5931\u5bf9 del(3p) \u7efc\u5408\u5f81\u7684\u8868\u8fbe\u81f3\u5173\u91cd\u8981\uff1a\u6838\u578b-\u8868\u578b\u76f8\u5173\u6027\u5728\u60a3\u6709 3 \u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u8fdc\u7aef\u90e8\u4f4d\u7f3a\u5931\u7684\u6848\u4f8b\u4e2d\u7684\u7814\u7a76<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\n      \u63cf\u8ff0\u4e86\u4e24\u4e2a\u60a3\u6709 3 \u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u8fdc\u7aef\u5355\u4f53\u7684\u60a3\u8005\u3002\u4e00\u4e2a\u662f 46,XX,del(3)(p25.3)\uff0c\u53e6\u4e00\u4e2a\u662f 46,XX,r(3)(p26.1q29)\u3002\u524d\u8005\u7684\u60a3\u8005\u8868\u73b0\u51fa\u751f\u957f\u969c\u788d\u3001\u667a\u529b\u8fdf\u949d\u3001\u4f34\u6709\u5c0f\u5934\u7578\u5f62\u3001\u4e09\u89d2\u9762\u3001\u5408\u77b3\u75c7\u3001\u773c\u7751\u4e0b\u5782\u3001\u8fc7\u773c\u77bc\u75c7\u3001\u5bbd\u6241\u9f3b\u3001\u957f\u4e0b\u988c\u3001\u5411\u4e0b\u7684\u5634\u5df4\u3001\u5c0f\u4e0b\u5df4\u3001\u660e\u663e\u4f4e\u4e0b\u7684\u5f02\u5e38\u8033\u6735\u3001\u624b\u6307\u5f02\u5e38\u3001\u542c\u529b\u53d7\u635f\u7b49 3p- \u7efc\u5408\u5f81\u7684\u5178\u578b\u4e34\u5e8a\u75c7\u72b6\u3002\u540e\u8005\u7684\u60a3\u8005\u8868\u73b0\u51fa\u667a\u529b\u8fdf\u949d\u3001\u751f\u957f\u4e0d\u826f\u548c\u975e\u7279\u5f02\u6027\u8868\u578b\u7684\u5c0f\u5934\u7578\u5f62\u3002\u901a\u8fc7\u5bf9\u8fd9\u4e00\u6848\u4f8b\u53ca\u5148\u524d\u62a5\u9053\u7684 16 \u4e2a\u60a3\u6709 3p \u8fdc\u7aef\u90e8\u5206\u7f3a\u5931\u7684\u6848\u4f8b\u8fdb\u884c\u6838\u578b-\u8868\u578b\u6bd4\u8f83\uff0c\u8868\u660e\u4e86 3p25.3 \u5e26\u7f3a\u5931\u5bf9 del(3p) \u7efc\u5408\u5f81\u7684\u4e3b\u8981\u4e34\u5e8a\u75c7\u72b6\u5177\u6709\u91cd\u8981\u6027\u3002\n    <\/p>\n    <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/2178418\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/2178418\/<\/a>\n  <\/div>\n<div class=\"ac-title\">\n    <h4>\u90e8\u5206\u5355\u4f5321\uff08q11.2\u2192q21.3\uff09\u4e0e3p25.3\u2192pter\u5355\u4f53\u7684\u975e\u5e73\u8861\u6613\u4f4d\u76f8\u5173\u8054\u7684\u90e8\u5206\u5355\u4f5321\uff08q11.2\u2192q21.3\uff09\uff1a\u75c5\u4f8b\u62a5\u544a\u53ca\u6587\u732e\u56de\u987e<\/h4>\n<\/div>\n<div class=\"ac-content\">\n    <p>\n        \u63cf\u8ff0\u4e86\u4e00\u4e2a\u56e0\u795e\u7ecf\u7cbe\u795e\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\u3001\u542c\u89c9\u969c\u788d\u548c\u5f62\u6001\u5f02\u5e38\u800c\u63a5\u53d7\u9057\u4f20\u5b66\u8bc4\u4f30\u76841\u5c815\u4e2a\u6708\u5973\u6027\u60a3\u8005\u3002\u60a3\u8005\u643a\u5e26\u4e86\u7531\u975e\u5e73\u8861\u7684de novo\u6613\u4f4d\u5bfc\u81f4\u768421\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u5355\u4f53\uff08q11.2\u2192q21.3\uff09\u548c3p\u67d3\u8272\u4f53\u672b\u7aef\u5355\u4f53\uff08p25.3\u2192pter\uff09\u7684\u7ed3\u5408\u3002\u6613\u4f4d\u901a\u8fc7\u8367\u5149\u539f\u4f4d\u6742\u4ea4\uff08FISH\uff09\u786e\u8ba4\uff0c\u5e76\u901a\u8fc7\u9ad8\u5206\u8fa8\u7387\u9635\u5217\u5b9a\u4f4d\u4e86\u65ad\u88c2\u70b9\u3002\u8fd9\u4e9b\u6280\u672f\u7684\u7ed3\u5408\u5206\u6790\u7ed3\u679c\u663e\u793a\uff0c\u6700\u7ec8\u6838\u578b\u88ab\u5b9a\u4e49\u4e3a45\uff0cXX\uff0cder\uff083\uff09t\uff083; 21\uff09\uff08p25.3; q21.3\uff09dn\uff0c-21\u3002\u7236\u7cfb\u8d77\u6e90\u7684\u67d3\u8272\u4f53\u91cd\u6392\u88ab\u4ece\u5fae\u536b\u661fDNA\u6807\u8bb0\u7684\u5206\u6790\u4e2d\u6697\u793a\u3002\u8fd9\u662f\u9996\u6b21\u62a5\u9053\u7531de novo\u4e0d\u5e73\u8861\u6613\u4f4d\u5f15\u8d77\u76843p\u672b\u7aef\u5355\u4f53\u4e0e\u90e8\u5206\u8fd1\u7aef\u5355\u4f5321\u7ed3\u5408\u7684\u75c5\u4f8b\u3002<\/p>\n    <a href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0378111912010748\">https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0378111912010748<\/a>\n<\/div>\n\n<div class=\"ac-title\">\n    <h4>3p-\u7efc\u5408\u5f81\u5b9a\u4e49\u4e863p25.3\u4e0a\u7684\u542c\u529b\u57fa\u56e0\u4f4d\u70b9<\/h4>\n<\/div>\n<div class=\"ac-content\">\n    <p>\u5f71\u54cd\u67d3\u8272\u4f533p\u672b\u7aef\u7684\u7f3a\u5931\u5bfc\u81f4\u4e86\u4e00\u7cfb\u5217\u7279\u5f81\u6027\u7684\u4e34\u5e8a\u75c7\u72b6\uff0c\u88ab\u79f0\u4e3a3p-\u7efc\u5408\u5f81\u3002\u53cc\u4fa7\u611f\u97f3\u6027\u542c\u529b\u635f\u5931\uff08SNHL\uff09\u5e76\u975e\u6240\u6709\u75c5\u4f8b\u90fd\u6709\uff0c\u4f46\u5728\u4e00\u4e9b\u75c5\u4f8b\u4e2d\u88ab\u89c2\u5bdf\u5230\uff0c\u5e76\u6697\u793a\u4e86\u4e0e\u4f4d\u4e8e3p25\u5e26\u4e2d\u7684\u91cd\u8981\u57fa\u56e0\u7684\u7f3a\u5931\u6709\u5173\u3002\u5230\u76ee\u524d\u4e3a\u6b62\uff0c\u5c1a\u672a\u663e\u793a\u51fa\u5bfc\u81f4\u4eba\u7c7b\u542c\u529b\u635f\u5931\u7684\u57fa\u56e0\u4f4d\u4e8e\u8be5\u533a\u57df\u3002\u7136\u800c\uff0cATP2B2\u57fa\u56e0\u4f4d\u4e8e3p25.3\uff0c\u800c\u5c0f\u9f20\u7684\u540c\u6e90\u534a\u5931\u6548\u4f1a\u5bfc\u81f4\u7c7b\u4f3c\u4e25\u91cd\u7a0b\u5ea6\u7684SNHL\u3002\u6211\u4eec\u6bd4\u8f83\u4e86\u6b64\u524d\u62a5\u9053\u76847\u4f8b\u672a\u62a5\u9053\u76843p-\u7efc\u5408\u5f81\u60a3\u8005\u7684\u542c\u529b\u68c0\u67e5\u7ed3\u679c\u548c\u5fae\u5c0f\u7f3a\u5931\u6620\u5c04\uff0c\u786e\u5b9a\u4e86\u4e0e3p25.3\u76841.38 Mb\u533a\u57df\u76f8\u5173\u7684\u4e2d\u5ea6\u5230\u91cd\u5ea6\u53cc\u4fa7SNHL\u3002\u8fd9\u4e2a\u65b0\u7684\u542c\u529b\u57fa\u56e0\u4f4d\u70b9\u5305\u62ec18\u4e2a\u57fa\u56e0\uff0c\u5176\u4e2d\u5305\u62ecATP2B2\u3002ATP2B2\u7f16\u7801\u7ec6\u80de\u819c\u9499\u6cf5PMCA2\u3002\u901a\u8fc7\u5bf9\u4eba\u8033\u8717\u5207\u7247\u7684\u514d\u75ab\u7ec4\u5316\u5206\u6790\uff0c\u8bc1\u660ePMCA2\u5b58\u5728\u4e8e\u6709\u6bdb\u7ec6\u80de\u7684\u5b9a\u4f4d\u7ea4\u6bdb\u4e0a\uff0c\u6697\u793a\u4e86\u5176\u5728\u542c\u89c9\u7cfb\u7edf\u4e2d\u7684\u529f\u80fd\u5728\u4eba\u7c7b\u548c\u5c0f\u9f20\u4e4b\u95f4\u662f\u4fdd\u5b88\u7684\u3002\u8be5\u533a\u57df\u7684\u5176\u4ed6\u57fa\u56e0\u4e5f\u4ecd\u7136\u662f\u5019\u9009\u57fa\u56e0\uff0c\u4f46\u6211\u4eec\u5f97\u51fa\u7ed3\u8bba\u8ba4\u4e3aATP2B2\u7684\u534a\u5931\u6d3b\u662f3p-\u7efc\u5408\u5f81\u4e2dSNHL\u6700\u6709\u53ef\u80fd\u7684\u539f\u56e0\u3002<\/p>\n    <a href=\"https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S0378595506003145\">https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S0378595506003145<\/a>\n<\/div>\n\n<div class=\"ac-title\">\n    <h4>\u95f4\u8d28\u6027\u8fd1\u7aef3p\u7f3a\u5931\uff1a\u4e34\u5e8a\u53ef\u89c1\u7684\u7efc\u5408\u5f81<\/h4>\n<\/div>\n<div class=\"ac-content\">\n    <p>\u53d1\u751f\u4e8e\u67d3\u8272\u4f533\u53f7\u8fd1\u7aef\u77ed\u81c2\u7684\u95f4\u8d28\u6027\u7f3a\u5931\u662f\u7f55\u89c1\u7684\uff0c\u5176\u5b9a\u4e49\u7684\u4e34\u5e8a\u8868\u578b\u5c1a\u672a\u786e\u7acb\u3002\u6211\u4eec\u62a5\u9053\u4e86\u4e00\u4e2a\u5177\u6709\u660e\u663e\u9762\u5bb9\u7279\u5f81\uff08\u65b9\u5f62\u9762\u5bb9\u3001\u659c\u5934\u3001\u5bbd\u989d\u3001\u5bbd\u9f3b\u6881\u3001\u957f\u4e0b\u988c\u3001\u4f4e\u8033\uff09\u3001\u7cbe\u795e\u8fd0\u52a8\/\u8bed\u8a00\u8fdf\u7f13\u768430\u4e2a\u6708\u5973\u5a74\uff0c\u8be5\u5973\u5a74\u643a\u5e26\u4e863p12\u67d3\u8272\u4f53\u7684\u95f4\u8d28\u7f3a\u5931\uff08del(3)(p12p12)\uff09\u3002\u4e3a\u4e86\u8fdb\u4e00\u6b65\u9610\u660e\u8fd1\u7aef3p\u7f3a\u5931\u7efc\u5408\u5f81\uff0c\u6211\u4eec\u5c06\u8be5\u60a3\u513f\u7684\u4e34\u5e8a\u75c7\u72b6\u4e0e\u5148\u524d\u62a5\u9053\u7684\u5177\u6709\u76f8\u540c\u7f3a\u5931\u7684\u5176\u4ed68\u4f8b\u60a3\u8005\u8fdb\u884c\u4e86\u6bd4\u8f83\u3002<\/p>\n    <a href=\"https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S038776040600235X\">https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S038776040600235X<\/a>\n<\/div>\n\n<div class=\"ac-title\">\n    <h4>\u67d3\u8272\u4f53r(3)(p25.3q29)\u5728\u5177\u6709\u53d1\u80b2\u8fdf\u7f13\u548c\u5148\u5929\u6027\u5fc3\u810f\u7f3a\u635f\u7684\u60a3\u8005\u4e2d\uff1a\u75c5\u4f8b\u62a5\u544a\u548c\u6587\u732e\u7efc\u8ff0<\/h4>\n<\/div>\n<div class=\"ac-content\">\n    <p>\n        \u73af\u72b6\u67d3\u8272\u4f533\uff08r(3)\uff09\u662f\u4e00\u79cd\u6781\u4e3a\u7f55\u89c1\u7684\u7ec6\u80de\u9057\u4f20\u5b66\u5f02\u5e38\uff0c\u4e34\u5e8a\u4e0a\u8868\u73b0\u4e0d\u4e00\u81f4\uff0c\u6587\u732e\u62a5\u9053\u4ec5\u670912\u4f8b\u3002\u6211\u4eec\u62a5\u9053\u4e86\u4e00\u4e2a\u60a3\u6709r(3)\u3001\u5177\u6709\u660e\u663e\u9762\u5bb9\u7279\u5f81\u3001\u53d1\u80b2\u8fdf\u7f13\u548c\u5148\u5929\u6027\u5fc3\u810f\u75c5\u76841\u5c81\u5973\u5a74\uff0c\u5979\u643a\u5e26\u4e86\u67d3\u8272\u4f533pterp25.3\uff0861,891-9,979,408\uff09\u7ea610 Mb\u7684\u7f3a\u5931\uff0c\u5305\u542b42\u4e2a\u5df2\u77e5\u57fa\u56e0\uff0c\u901a\u8fc7G-\u5e26\u6838\u578b\u5206\u6790\u548cCytoScan 750K-Array\u68c0\u6d4b\u5230\u3002r(3)\u7684\u65ad\u88c2\u70b9\u88ab\u5b9a\u4f4d\u57283p25.3\u548c3q29\u3002\u4e3a\u4e86\u63d0\u4f9b\u66f4\u591a\u5173\u4e8e\u57fa\u56e0\u578b\u548c\u8868\u578b\u76f8\u5173\u6027\u7684\u4fe1\u606f\uff0c\u6211\u4eec\u5206\u6790\u4e86\u5df2\u62a5\u544a\u7684r(3)\u548c3p\u7f3a\u5931\u7efc\u5408\u5f81\u75c5\u4f8b\u7684\u4e34\u5e8a\u7279\u5f81\u7684\u53ef\u7528\u4fe1\u606f\u3002\u636e\u6211\u4eec\u6240\u77e5\uff0c\u8fd9\u662f\u62a5\u544a\u7684\u6700\u5927\u68c0\u6d4b\u7247\u6bb5\u7684r(3)\u75c5\u4f8b\uff0c\u4e5f\u662f\u7b2c\u4e8c\u9879\u4f7f\u7528\u5168\u57fa\u56e0\u7ec4\u5fae\u9635\u5217\u7814\u7a76\u7684r(3)\u7814\u7a76\u3002<\/p>\n    <a href=\"https:\/\/karger.com\/cgr\/article-abstract\/148\/1\/6\/62466\/Chromosome-r-3-p25-3q29-in-a-Patient-with?redirectedFrom=fulltext\">https:\/\/karger.com\/cgr\/article-abstract\/148\/1\/6\/62466\/Chromosome-r-3-p25-3q29-in-a-Patient-with?redirectedFrom=fulltext<\/a>\n<\/div>\n\n<div class=\"ac-title\">\n    <h4>\u5fae\u5999\u7684\u95f4\u8d28del(3)(p25.3p26.2)\u57283p\u7f3a\u5931\u7efc\u5408\u5f81\u60a3\u8005\u4e2d\u7684\u5206\u5b50\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790<\/h4>\n<\/div>\n<div class=\"ac-content\">\n    <p>3p\u7f3a\u5931\u7efc\u5408\u5f81\u4f34\u6709\u7279\u5f81\u6027\u9762\u5bb9\u3001\u751f\u957f\u969c\u788d\u548c\u667a\u529b\u53d1\u80b2\u8fdf\u7f13\u3002\u901a\u5e38\uff0c3p\u7f3a\u5931\u7efc\u5408\u5f81\u4e2a\u4f53\u5177\u6709\u4ece3p25\u52303pter\u7684\u672b\u7aef\u7f3a\u5931\u3002\u6211\u4eec\u4ecb\u7ecd\u4e86\u4e00\u4e2a\u643a\u5e263p\u7f3a\u5931\u7efc\u5408\u5f81\u4e34\u5e8a\u8868\u578b\uff08\u773c\u7751\u4e0b\u5782\u3001\u5c0f\u5934\u75c7\u3001\u751f\u957f\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\uff09\u7684\u513f\u7ae5\uff0c\u5176\u67d3\u8272\u4f533\u53f7\u77ed\u81c2\u8fdc\u7aef\u5177\u6709\u5fae\u5999\u7684\u95f4\u8d28\u6027\u7f3a\u5931\u3002\u901a\u8fc7\u4f7f\u75283p\u6b21\u672b\u7aef\u63a2\u9488\u7684\u8367\u5149\u539f\u4f4d\u6742\u4ea4\uff08FISH\uff09\u65b9\u6cd5\u786e\u8ba4\u4e86\u67d3\u8272\u4f533\u53f7\u672b\u7aef\u533a\u57df\u7684\u5b58\u5728\u3002\u4f7f\u7528\u5b9a\u4f4d\u5728\u67d3\u8272\u4f53\u533a\u57df3p25-p26\u7684\u5e8f\u5217\u6807\u8bb0\u4f4d\u70b9\uff08STS\uff09\u94fe\u63a5BAC\u514b\u9686\uff0c\u6211\u4eec\u901a\u8fc7FISH\u663e\u793a\u4e86\u95f4\u8d28\u6027\u7f3a\u5931\u7684\u7279\u5f81\u3002\u7ed3\u679c\u8868\u660e\uff0c\u7f3a\u5931\u4f4d\u4e8eSTS\u6807\u8bb0\u7269D3S3630\u548cD3S1304\u4e4b\u95f4\u7684\u533a\u57df\uff0c\u7ea64.5 Mb\u3002\u8be5\u95f4\u8d28\u6027\u7f3a\u5931\u5305\u542b\u4e86\u6240\u6709\u5df2\u62a5\u544a\u76843p\u7f3a\u5931\u7efc\u5408\u5f81\u672b\u7aef\u7f3a\u5931\uff0c\u5e76\u4e14\u662f\u5df2\u62a5\u544a\u7684\u6700\u5c0f\u7f3a\u5931\u3002\u63ed\u793a\u8be5\u7f3a\u5931\u7684\u7279\u5f81\u53ef\u80fd\u6709\u52a9\u4e8e\u786e\u5b9a\u5bf9\u7f3a\u59313p\u7efc\u5408\u5f81\u7684\u8868\u578b\u8d21\u732e\u7684\u91cd\u8981\u57fa\u56e0\uff0c\u5982\u679c\u5b58\u5728\u4e8e\u534a\u5408\u5b50\u4e2d\u3002<\/p>\n    <a href=\"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10323\">https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10323<\/a>\n<\/div>\n\n<div class=\"ac-title\">\n    <h4>\u5370\u5ea6\u5927\u5bb6\u65cf\u4e2d\u663e\u793a\u67d3\u8272\u4f534p16\u548c3p26.3\u91cd\u6392\u53ca\u591a\u6837\u4e34\u5e8a\u8868\u578b\u7684\u518d\u914d\u5217<\/h4>\n<\/div>\n<div class=\"ac-content\">\n    <p>\n        \u80cc\u666f<br>\n        \u67d3\u8272\u4f534p16.3\u7684Wolf-Hirschhorn\u75c7\u5019\u7fa4\u4e34\u754c\u533a\u57df\uff08WHSCR-2\uff09\u7684\u7f3a\u5931\u901a\u5e38\u5bfc\u81f4\u7279\u5f81\u6027\u9762\u5bb9\u3001\u5404\u79cd\u7a0b\u5ea6\u7684\u667a\u529b\u969c\u788d\u3001\u5178\u578b\u3001\u51fa\u751f\u524d\u751f\u957f\u8fdf\u7f13\u7684\u53d1\u751f\uff0c\u800c\u540c\u4e00\u67d3\u8272\u4f53\u533a\u57df\u7684\u589e\u76ca\u5219\u5bfc\u81f4\u66f4\u591a\u7a0b\u5ea6\u7684\u667a\u529b\u969c\u788d\u548c\u5f62\u6001\u5f02\u5e38\u3002\u7c7b\u4f3c\u5730\uff0c\u67d3\u8272\u4f533p\u672b\u7aef\u7f3a\u5931\uff083p\u7f3a\u5931\u7efc\u5408\u5f81\uff09\u7684\u8868\u578b\u662f\u591a\u6837\u7684\uff0c\u4ece\u8f7b\u5ea6\u5230\u91cd\u5ea6\u7684\u667a\u529b\u969c\u788d\u3001\u5c0f\u5934\u75c7\u3001\u4e09\u5934\u75c7\u3001\u5178\u578b\u7684\u9762\u5bb9\u90fd\u6709\u3002<br>\n        \u65b9\u6cd5\u548c\u7ed3\u679c<br>\n        \u901a\u8fc7\u67d3\u8272\u4f53\u5fae\u9635\u5217\u5206\u6790\u548c\u8367\u5149\u539f\u4f4d\u6742\u4ea4\u5206\u6790\uff0c\u63ed\u793a\u4e86\u6d89\u53ca\u67d3\u8272\u4f53\u6b21\u533a\u57df4p16.1\u548c3p26.3\u7684\u590d\u6742\u518d\u6392\u5217\uff0c\u5176\u4e2d\u67093\u4eba\u5177\u67094p16.1\u7f3a\u5931\u548c3p26.3\u91cd\u590d\uff0c7\u4eba\u5177\u67094p16.1\u91cd\u590d\u548c3p26.3\u91cd\u590d\u3002\u5177\u67094p16.1\u7f3a\u5931\u548c3p26.3\u5fae\u91cd\u590d\u76843\u4f8b\u60a3\u8005\u5747\u8868\u73b0\u51fa\u5178\u578b\u7684WHS\u4e34\u5e8a\u75c7\u72b6\u3002\u5177\u67094p16.1\u91cd\u590d\u548c3p26.3\u5fae\u91cd\u590d\u7684\u60a3\u8005\u8868\u73b0\u51fa\u5404\u79cd\u4e34\u5e8a\u75c7\u72b6\uff0c\u4ece\u5178\u578b\u76843p\u5fae\u5c0f\u7f3a\u5931\u62164p\u90e8\u5206\u4e09\u4f53\u75c7\u5019\u7fa4\u5230\u660e\u663e\u7684\u5f62\u6001\u5f02\u5e38\u548c\u66f4\u4e25\u91cd\u7684\u795e\u7ecf\u53d1\u80b2\u8fdf\u7f13\u3002<br>\n        \u7ed3\u8bba<br>\n        \u6211\u4eec\u63d0\u51fa\u4e86\u4e00\u79cd\u5177\u6709\u590d\u6742\u7684t(4p;3p)\u67d3\u8272\u4f53\u518d\u6392\u5217\uff0c\u7f79\u60a3Wolf Hirschorn\u75c7\u5019\u7fa4\u30013p\u7f3a\u5931\u7efc\u5408\u5f81\u30014p\u91cd\u590d\u7efc\u5408\u5f81\u7b49\u591a\u6837\u4e34\u5e8a\u7ed3\u679c\u7684\u6700\u5927\u89c4\u6a21\u7684\u8840\u7edf\u3002\n    <\/p>\n    <a href=\"https:\/\/bmcmedgenet.biomedcentral.com\/articles\/10.1186\/s12881-015-0251-5\">https:\/\/bmcmedgenet.biomedcentral.com\/articles\/10.1186\/s12881-015-0251-5<\/a>\n<\/div>\n<\/div>\n\n\n\n<div>\n  <h3>8p \u7f3a\u5931 \/ \u91cd\u590d<\/h3>\n  <div class=\"ac-title\">\n    <h4>8p23.1 \u90e8\u5206\u7f3a\u5931<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\n      8p \u5355\u4f53\u6027\u662f\u4e00\u79cd\u7f55\u89c1\u7684\u67d3\u8272\u4f53\u5f02\u5e38\uff0c\u5176\u7279\u5f81\u662f 8 \u53f7\u67d3\u8272\u4f53\u7684\u90e8\u5206\u7f3a\u5931\u3002\n      8p23.1 \u7f3a\u5931\u7684\u53d1\u751f\u7387\u5728\u7f8a\u6c34\u6837\u672c\u4e2d\u4e3a 18542 \u4eba\u4e2d\u7684 1 \u4eba\uff0c\u5728\u51fa\u751f\u540e\u6837\u672c\u4e2d\u4e3a 5072 \u4eba\u4e2d\u7684 1 \u4eba\u3002\n    <\/p>\n    <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/10521848\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/10521848\/<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>8p23.1 \u90e8\u5206\u91cd\u590d<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\n      8p23.1 \u91cd\u590d\u7efc\u5408\u5f81\uff088p23.1 DS\uff09\u7684\u53d1\u751f\u9891\u7387\u5f88\u9ad8\uff0c\u4f30\u8ba1\u60a3\u75c5\u7387\u4e3a 58,000 \u4eba\u4e2d\u7684 1 \u4eba\u3002\n    <\/p>\n    <a href=\"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37120\">https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37120<\/a>\n  <\/div>\n  \n<\/div>\n\n\n\n<div>\n  <h3>9p\u7f3a\u5931<\/h3>\n  <div class=\"ac-title\">\n    <h4>\u5177\u6709\u67d3\u8272\u4f539p\u8fdc\u7aef\u7f3a\u5931\u768410\u540d\u60a3\u8005\u7684\u8be6\u7ec6\u7279\u5f81\u53ca\u4e34\u5e8a\u76f8\u5173\u6027<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>9p\u8fdc\u7aef\u7f3a\u5931\u4e0e\u4e09\u5934\u8111\u3001\u7cbe\u795e\u8fdf\u6ede\u3001\u7578\u5f62\u9762\u5bb9\u3001\u5fc3\u810f\u5f02\u5e38\u3001\u751f\u6b96\u5668\u5f02\u5e38\u76f8\u5173\u3002\u4ee5\u5f80\u7684\u7814\u7a76\u8868\u660e\uff0c\u57289p23\u5e26\u5185\uff08\u4f4d\u4e8e9p\u7aef\u7c92\u81f311.8Mb\u548c16Mb\u4e4b\u95f4\uff09\uff0c\u5b58\u5728\u91cd\u8981\u7684\u5171\u8bc6\u8868\u578b\u533a\u57df\u3002\u5176\u4e2d9\u4eba\u5177\u6709\u4e0e9p-\u7efc\u5408\u75c7\u76f8\u7b26\u7684\u4e34\u5e8a\u7279\u5f81\uff0c\u4f46\u7f3a\u5931\u7684\u672b\u7aef\u8f83\u5c0f\uff0c\u4e0e\u8bb8\u591a\u62a5\u544a\u6848\u4f8b\u76f8\u6bd4\u3002\u53e6\u5916\uff0c1\u4eba\u7f3a\u4e4f9p-\u8868\u578b\uff0c\u5e76\u663e\u793a\u6765\u81ea\u6bcd\u4eb2\u7684140kb\u95f4\u8d28\u7aef\u7c92\u7f3a\u5931\u3002<br>\n  \u7ed3\u679c<br>\n  \u7f3a\u5931\u7684\u5927\u5c0f\u5728\u4e34\u5e8a\u76f8\u5173\u7684\u8868\u578b\u60a3\u8005\u4e2d\u6709\u6240\u4e0d\u540c\uff0c\u4ece800kb\u523012.4Mb\u4e0d\u7b49\u3002\u4e34\u5e8a\u8bc4\u4f30\u548c\u6bd4\u8f83\u663e\u793a\uff0c\u7f3a\u5931\u5927\u5c0f\u5bf9\u8eab\u4f53\u7279\u5f81\u7684\u5dee\u5f02\u51e0\u4e4e\u6ca1\u6709\u3002\u6240\u6709\u5177\u6709\u4e34\u5e8a\u76f8\u5173\u8868\u578b\u7684\u60a3\u8005\u5747\u89c2\u5bdf\u5230\u4e25\u91cd\u7684\u8bed\u8a00\u969c\u788d\u3002<br>\n  \u7ed3\u8bba<br>\n  \u6211\u4eec\u60a3\u8005\u5171\u540c\u7684\u6700\u5c0f\u7f3a\u5931\u533a\u57df\u662f\u542b\u67096\u4e2a\u5df2\u77e5\u57fa\u56e0\u76849pter\u5c0f\u4e8e2Mb\u3002\u8fd9\u4e9b\u57fa\u56e0\u53ef\u80fd\u5bf99p\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u4e3b\u8981\u7279\u5f81\u505a\u51fa\u4e86\u4e00\u5b9a\u8d21\u732e\u3002<\/p>\n    <a href=\"https:\/\/www.nature.com\/articles\/gim200890\">https:\/\/www.nature.com\/articles\/gim200890<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>\u5bb6\u65cf\u5e73\u8861\u6613\u4f4d\u5bfc\u81f49p\u7efc\u5408\u75c7\u8868\u578b\u540e\u4ee3 9p\u7efc\u5408\u75c7<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\u6211\u4eec\u62a5\u544a\u4e86\u4e24\u4e2a\u76f8\u4f3c\u7f79\u60a3\u7684\u4e00\u5375\u53cc\u751f\u59d0\u59b9\u7684\u5b50\u5973\u3002\n  \u62a5\u544a\u4e86\u4e24\u4e2a\u8868\u73b0\u4e3a9p\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u8868\u578b\u7279\u5f81\u76f8\u7b26\u7684\u8868\u4eb2\uff08\u4e00\u5bf9\u4e00\u5375\u53cc\u751f\u59d0\u59b9\u7684\u5b50\u5973\uff09\u3002\u8868\u578b\u7279\u5f81\u5305\u62ec\u4e09\u5934\u808c\u5934\u9885\u3001\u4e2d\u9762\u90e8\u4f4e\u5f62\u6210\u3001\u4e0a\u659c\u53e3\u816d\u88c2\u3001\u957f\u5634\u5507\u7b49\u667a\u529b\u969c\u788d\u3001\u6027\u53d1\u80b2\u969c\u788d\u7b49\u3002\n  \u6027\u53d1\u80b2\u969c\u788d\u3002\u521d\u59cb\u7ec6\u80de\u9057\u4f20\u5b66\u68c0\u67e5\u663e\u793a\n  \u8d77\u59cb\u63a2\u9488\u548c\u5176\u7236\u6bcd\u7684\u6838\u578b\u5747\u6b63\u5e38\u3002\n  \u591a\u91cd\u5f15\u7269\u6269\u589e\u6cd5\u63ed\u793a\u4e861q\u672b\u7aef\u91cd\u590d\u548c9p\u672b\u7aef\u7f3a\u5931\u3002\u7f3a\u5931\u548c9p\u672b\u7aef\u7f3a\u5931\u88ab\u53d1\u73b0\u3002\n  \u901a\u8fc7\u8367\u5149\u539f\u4f4d\u6742\u4ea4\u8fdb\u4e00\u6b65\u5206\u6790\u7ed3\u679c\uff0c\u4ee5\u4e0b\u5185\u5bb9\u88ab\u9274\u5b9a\u3002\n  \u6bcd\u4eb2\u60a3\u6709\u5bb6\u65cf\u5e73\u8861\u7684\u9690\u6027\u6613\u4f4dt(1;9)(q44;p23)\uff0c \n  \u8fd9\u663e\u793a\u4e86\u5728\u4e34\u5e8a\u9057\u4f20\u5b66\u4e2d\u5206\u5b50\u7ec6\u80de\u9057\u4f20\u5b66\u65b9\u6cd5\u7684\u91cd\u8981\u6027\u3002<\/p>\n    <a href=\"https:\/\/www.funpecrp.com.br\/gmr\/year2014\/vol13-2\/pdf\/gmr3782.pdf\">https:\/\/www.funpecrp.com.br\/gmr\/year2014\/vol13-2\/pdf\/gmr3782.pdf<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>\u5177\u6709\u67d3\u8272\u4f539p\u8fdc\u7aef\u7f3a\u5931\u768410\u540d\u60a3\u8005\u7684\u8be6\u7ec6\u7279\u5f81\u548c\u4e34\u5e8a\u76f8\u5173\u6027<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\n  \u76ee\u7684<br>\n  9p\u8fdc\u7aef\u7f3a\u5931\u4e0e\u4e09\u5934\u8111\u3001\u7cbe\u795e\u8fdf\u6ede\u3001\u7578\u5f62\u9762\u5bb9\u3001\u5fc3\u810f\u5f02\u5e38\u3001\u751f\u6b96\u5668\u5f02\u5e38\u76f8\u5173\u3002\u4ee5\u5f80\u7684\u7814\u7a76\u8868\u660e\uff0c\u57289p23\u5e26\u5185\uff08\u4f4d\u4e8e9p\u7aef\u7c92\u81f311.8Mb\u548c16Mb\u4e4b\u95f4\uff09\uff0c\u5b58\u5728\u91cd\u8981\u7684\u5171\u8bc6\u8868\u578b\u533a\u57df\u3002\u5176\u4e2d9\u4eba\u5177\u6709\u4e0e9p-\u7efc\u5408\u75c7\u76f8\u7b26\u7684\u4e34\u5e8a\u7279\u5f81\uff0c\u4f46\u7f3a\u5931\u7684\u672b\u7aef\u8f83\u5c0f\uff0c\u4e0e\u8bb8\u591a\u62a5\u544a\u6848\u4f8b\u76f8\u6bd4\u3002\u53e6\u5916\uff0c1\u4eba\u7f3a\u4e4f9p-\u8868\u578b\uff0c\u5e76\u663e\u793a\u6765\u81ea\u6bcd\u4eb2\u7684140kb\u95f4\u8d28\u7aef\u7c92\u7f3a\u5931\u3002<br>\n  \u65b9\u6cd5<br>\n  \u901a\u8fc7\u8367\u5149\u539f\u4f4d\u6742\u4ea4\uff08FISH\uff09\u548c\u5fae\u9635\u5217\u5206\u6790\uff0c\u63ed\u793a\u4e86\u5404\u81ea\u7f3a\u5931\u7684\u5927\u5c0f\u3002<br>\n  \u7ed3\u679c<br>\n  \u7f3a\u5931\u7684\u5927\u5c0f\u5728\u4e34\u5e8a\u76f8\u5173\u7684\u8868\u578b\u60a3\u8005\u4e2d\u6709\u6240\u4e0d\u540c\uff0c\u4ece800kb\u523012.4Mb\u4e0d\u7b49\u3002\u4e34\u5e8a\u8bc4\u4f30\u548c\u6bd4\u8f83\u663e\u793a\uff0c\u7f3a\u5931\u5927\u5c0f\u5bf9\u8eab\u4f53\u7279\u5f81\u7684\u5dee\u5f02\u51e0\u4e4e\u6ca1\u6709\u3002\u6240\u6709\u5177\u6709\u4e34\u5e8a\u76f8\u5173\u8868\u578b\u7684\u60a3\u8005\u5747\u89c2\u5bdf\u5230\u4e25\u91cd\u7684\u8bed\u8a00\u969c\u788d\u3002<br>\n  \u7ed3\u8bba<br>\n  \u6211\u4eec\u60a3\u8005\u5171\u540c\u7684\u6700\u5c0f\u7f3a\u5931\u533a\u57df\u662f\u542b\u67096\u4e2a\u5df2\u77e5\u57fa\u56e0\u76849pter\u5c0f\u4e8e2Mb\u3002\u8fd9\u4e9b\u57fa\u56e0\u53ef\u80fd\u5bf99p\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u4e3b\u8981\u7279\u5f81\u505a\u51fa\u4e86\u4e00\u5b9a\u8d21\u732e\u3002<\/p>\n    <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC2953383\/\">https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC2953383\/<\/a>\n  <\/div>\n  \n<div class=\"ac-title\">\n    <h4>9p\u67d3\u8272\u4f53\u7684\u672b\u7aef9Mb\u7f3a\u5931\u60a3\u8005\uff1a\u4f34\u6709\u4e09\u5934\u8111\u76849p\u5355\u4f53\u75c7\u5019\u7fa4\u7684\u91cd\u8981\u533a\u57df\u7684\u7cbe\u7ec6\u5b9a\u4f4d<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\u672c\u6587\u63cf\u8ff0\u4e86\u5177\u6709\u4e09\u5934\u7b4b\u5934\u9885\u548c\u6027\u8f6c\u6362\u7b49\u5178\u578b\u75c7\u72b6\u76849p\u5355\u4f53\u75c7\u5019\u7fa4\u60a3\u8005\u3002\u901a\u8fc7\u9635\u5217\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4\uff08CGH\uff09\uff0c\u63ed\u793a\u4e86\u7ea69Mb\u76849p\u672b\u7aef\u7f3a\u5931\uff0c\u5176\u65ad\u70b9\u4f4d\u4e8e9p23\u3002\u6211\u4eec\u6bd4\u8f83\u4e86\u5177\u6709\u4e09\u5934\u75c7\u76849p\u5355\u4f53\u75c7\u5019\u7fa4\u62a5\u544a\u6848\u4f8b\u5e76\u76f8\u5173\u76849p\u7f3a\u5931\u6bb5\u3002\u7136\u800c\uff0c\u4e0e\u4e0d\u6d89\u53ca\u5176\u4ed6\u67d3\u8272\u4f53\u6750\u6599\u7684\u7eaf\u672b\u7aef\u7f3a\u5931\u6216\u95f4\u8d28\u7f3a\u5931\u8fdb\u884c\u6bd4\u8f83\u65f6\uff0c\u786e\u8ba4\u4e86\u4eceD9S912\u5230RP11-439I6\u7684\u7ea61Mb\u533a\u57df\u5728\u6240\u6709\u60a3\u8005\u4e2d\u5747\u88ab\u7f3a\u5931\u3002\u6211\u4eec\u63a8\u6d4b\u8fd91Mb\u533a\u57df\u53ef\u80fd\u662f\u4e0e\u4f34\u6709\u4e09\u5934\u8111\u76849p\u5355\u4f53\u75c7\u5019\u7fa4\u76f8\u5173\u7684\u91cd\u8981\u533a\u57df\u3002<\/p>\n    <a href=\"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1741-4520.2012.00362.x\">https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1741-4520.2012.00362.x<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>9p\u7f3a\u5931\u75c7\u5019\u7fa4\u768413\u540d\u8377\u5170\u60a3\u8005\u7684\u4e34\u5e8a\u548c\u7ec6\u80de\u9057\u4f20\u5b66\u7279\u5f81\uff1a\u786e\u5b9a\u91cd\u8981\u533a\u57df\u7684\u5171\u8bc6\u8868\u578b<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>9p\u7f3a\u5931\u75c7\u5019\u7fa4\u662f\u75319\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u7684\u4e00\u90e8\u5206\u4f53\u8d28\u5355\u4f53\u5f15\u8d77\u7684\u3002\u4e34\u5e8a\u4e0a\u8868\u73b0\u4e3a\u7578\u5f62\uff08\u4e09\u5934\u75c7\u3001\u4e2d\u9762\u90e8\u4f4e\u5f62\u6210\u3001\u957f\u4e0b\u988c\uff09\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u7cbe\u795e\u8fdf\u6ede\u7b49\u3002\u5df2\u77e59p\u7f3a\u5931\u662f\u4e0d\u5747\u5300\u7684\uff0c\u8868\u73b0\u51fa\u4e0d\u540c\u5927\u5c0f\u7684\u7f3a\u5931\u3002\u636e\u62a5\u9053\uff0c\u91cd\u8981\u7684\u5171\u8bc6\u8868\u578b\u533a\u57df\u4f4d\u4e8e9p22\u4e0a\u7684\u7ea64-6Mb\u533a\u95f4\u5185\u3002\u672c\u7814\u7a76\u5bf913\u540d\u8377\u5170\u60a3\u8005\u8fdb\u884c\u4e86\u7814\u7a76\uff0c\u901a\u8fc7\u8367\u5149\u539f\u4f4d\u6742\u4ea4\uff08FISH\uff09\u548c\u4e00\u4e9b\u75c5\u4f8b\u7684\u57fa\u4e8e\u9635\u5217\u7684\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4\uff08\u9635\u5217CGH\uff09\u786e\u5b9a\u4e86\u7f3a\u5931\u65ad\u70b9\u3002\u5bf9\u4e8e\u5404\u79cd\u53d1\u80b2\u7279\u5f81\uff0c\u672a\u80fd\u786e\u7acb\u57fa\u56e0\u578b\u548c\u8868\u578b\u4e4b\u95f4\u7684\u660e\u786e\u76f8\u5173\u6027\u3002\u4f46\u662f\uff0c\u6211\u4eec\u80fd\u591f\u5c069p\u7f3a\u5931\u75c7\u5019\u7fa4\u7684\u91cd\u8981\u533a\u57df\u7f29\u5c0f\u5230\u7ea6300kb\u3002\u8be5\u533a\u57df\u5916\u4fa7\u4f3c\u4e4e\u4f4d\u4e8eCER1\u57fa\u56e0\uff0c\u8fd9\u662f\u4e09\u5934\u75c7\u529f\u80fd\u5019\u9009\u57fa\u56e0\u3002\u6b64\u5916\uff0c\u5bf9\u8be5\u57fa\u56e0\u7684\u5e8f\u5217\u5206\u6790\u672a\u53d1\u73b0\u4e0e\u75c5\u56e0\u76f8\u5173\u7684\u7a81\u53d8\u3002<\/p>\n    <a href=\"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32310\">https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32310<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>\u5177\u6709\u672b\u7aef9p\u7f3a\u5931\u548c20p\u91cd\u590d\u76842\u540d\u60a3\u8005\u7684\u65b0\u7684\u955c\u50cf\u624b\u5019\u9009\u533a\u57df<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>9p\u7f3a\u5931\u75c7\u5019\u7fa4\u5df2\u7ecf\u88ab\u8be6\u7ec6\u5b9a\u4e49\uff0c\u5e76\u8868\u73b0\u51fa\u7cbe\u795e\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\u3001\u7578\u5f62\u3001\u751f\u6b96\u5668\u5f02\u5e38\u7b49\u591a\u79cd\u4e34\u5e8a\u7279\u5f81\u3002\u4e0e9p\u7f3a\u5931\u75c7\u5019\u7fa4\u76f8\u53cd\uff0c20p\u91cd\u590d\u5728\u6587\u732e\u4e2d\u51e0\u4e4e\u6ca1\u6709\u62a5\u9053\uff0c\u53ea\u6709\u5c11\u6570\u6848\u4f8b\u62a5\u544a\u3002\u81f3\u4eca\u53ea\u67094\u4f8b\u62a5\u544a\u4e869p\u7f3a\u5931\u75c7\u5019\u7fa4\u548c20p\u91cd\u590d\u7684\u5408\u5e76\u75c7\u3002\u672c\u7814\u7a76\u65e8\u5728\u8c03\u67e5\u51fa\u73b0\u955c\u50cf\u624b\u8fd0\u52a8\u7684\u4e24\u540d\u60a3\u8005\u4e2d\u89c2\u5bdf\u5230\u7684\u7f55\u89c1\u67d3\u8272\u4f53\u91cd\u6392\uff0c\u53739p\u90e8\u5206\u5355\u4f53\u548c20p\u4e09\u4f53\u3002\u955c\u50cf\u624b\u8fd0\u52a8\u53d7\u9057\u4f20\u548c\u73af\u5883\u56e0\u7d20\u7684\u5f71\u54cd\u3002\u5c3d\u7ba1\u4e0eDCC\u3001NTN1\u3001RAD51\u548cDNAL4\u76f8\u5173\u7684\u53d8\u5f02\u7684\u75c5\u4f8b\u5b58\u5728\uff0c\u4f46\u8bb8\u591a\u75c5\u4f8b\u7684\u955c\u50cf\u624b\u8fd0\u52a8\u9057\u4f20\u57fa\u7840\u65e0\u6cd5\u89e3\u91ca\u3002\u5728\u6211\u4eec\u7684\u60a3\u8005\u4e2d\uff0c\u6ca1\u6709\u68c0\u6d4b\u5230\u5148\u524d\u5df2\u77e5\u4e3a\u955c\u50cf\u624b\u75c7\u72b6\u539f\u56e0\u7684\u57fa\u56e0\u7684\u53d8\u5316\u3002\u8fd9\u4e00\u65b0\u53d1\u73b0\u6697\u793a\u4e86\u8868\u89c2\u6548\u5e94\u53ef\u80fd\u662f9p\u7f3a\u5931\u533a\u57df\u621620p\u91cd\u590d\u533a\u57df\u5185\u57fa\u56e0\u5242\u91cf\u6548\u5e94\u7684\u7ed3\u679c\uff0c\u6216\u8005\u662f\u7531\u4e8e\u5728\u65ad\u70b9\u533a\u57df\u7834\u574f\u7684\u57fa\u56e0\u3002\u672a\u6765\u7684\u7814\u7a76\u91cd\u70b9\u53ef\u80fd\u5728\u4e8e\u8fd9\u4e9b\u57fa\u56e0\u5185\u7684\u7814\u7a76\uff0c\u8fd9\u53ef\u80fd\u4f1a\u63ed\u793a\u955c\u50cf\u624b\u8fd0\u52a8\u7684\u65b0\u75c5\u56e0\u3002<\/p>\n    <a href=\"https:\/\/link.springer.com\/article\/10.1007\/s11033-023-09192-9\">https:\/\/link.springer.com\/article\/10.1007\/s11033-023-09192-9<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>\u5173\u4e8e9p\u7f3a\u5931\u75c7\u5019\u7fa4\u5fc3\u810f\u8868\u578b\u7684\u89c1\u89e3\uff1a\u610f\u5927\u5229\u591a\u4e2d\u5fc3\u7684\u7ecf\u9a8c\u548c\u6587\u732e\u7efc\u8ff0<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\u67d3\u8272\u4f539p\u7f3a\u5931\u75c7\u5019\u7fa4\u662f\u4e00\u79cd\u7f55\u89c1\u7684\u5e38\u67d3\u8272\u4f53\u663e\u6027\u75be\u75c5\uff0c\u5176\u5305\u62ec\u5148\u5929\u6027\u5fc3\u810f\u75c5\uff08CHD\uff09\u7b49\u5e7f\u6cdb\u7684\u4e34\u5e8a\u7279\u5f81\u3002\u8fc4\u4eca\u4e3a\u6b62\uff0c\u5bf9\u4e0e\u8be5\u75be\u75c5\u76f8\u5173\u7684\u5fc3\u810f\u8868\u578b\u548c\u529f\u80fd\u8fdb\u884c\u6df1\u5165\u7279\u5f81\u5316\u7684\u7814\u7a76\u5c1a\u4e0d\u8db3\u3002\u6211\u4eec\u5bf9\u786e\u8bca\u4e3a9p\u7f3a\u5931\u75c7\u5019\u7fa4\u768410\u540d\u60a3\u8005\u8fdb\u884c\u4e86\u591a\u4e2d\u5fc3\u5171\u540c\u524d\u77bb\u6027\u89c2\u5bdf\u7814\u7a76\uff0c\u5e76\u4f7f\u7528\u5e38\u89c4\u5fc3\u810f\u8d85\u58f0\u548c\u7ec4\u7ec7\u591a\u666e\u52d2\u56fe\u50cf\u6765\u8fdb\u884c\u5b8c\u6574\u7684\u5fc3\u810f\u5b66\u8bc4\u4f30\u3002\u7ed3\u679c\u8868\u660e\uff0c9p\u7f3a\u5931\u75c7\u5019\u7fa4\u60a3\u8005\u4e2d\u53ef\u80fd\u5b58\u5728\u4e0d\u663e\u6027\u5fc3\u810f\u7ed3\u6784\u53d8\u5316\u4ee5\u53ca\u5de6\u5fc3\u5ba4\u8212\u5f20\u548c\u6536\u7f29\u529f\u80fd\u969c\u788d\u3002\u867d\u7136\u9700\u8981\u66f4\u5927\u89c4\u6a21\u7684\u7814\u7a76\u6765\u9a8c\u8bc1\uff0c\u4f46\u6211\u4eec\u7684\u53d1\u73b0\u652f\u6301\u4e86\u57289p\u7f3a\u5931\u75c7\u5019\u7fa4\u60a3\u8005\u4e2d\u8fdb\u884c\u5b8c\u6574\u5fc3\u810f\u8bc4\u4f30\u5e76\u5c06\u5176\u7eb3\u5165\u957f\u671f\u89c2\u5bdf\u7684\u7406\u5ff5\u3002<\/p>\n    <a href=\"https:\/\/www.mdpi.com\/2073-4425\/14\/1\/146\">https:\/\/www.mdpi.com\/2073-4425\/14\/1\/146<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>\u5973\u7ae5\u81ea\u95ed\u75c7\u548c\u7cbe\u795e\u8fdf\u6ede\u4f34\u67099p\u7f3a\u5931\u548c11;9)(p15;p23)\u7684\u65b0\u67d3\u8272\u4f53\u6613\u4f4d<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\u672c\u6587\u63cf\u8ff0\u4e86\u4e00\u540d5\u5c81\u5973\u7ae5\uff0c\u60a3\u6709\u81ea\u95ed\u75c7\u548c\u7cbe\u795e\u8fdf\u6ede\u3002\u4f20\u7edf\u6838\u578b\u5206\u6790\u63ed\u793a\u4e86\u4e00\u79cd\u65b0\u7684\u4e00\u5411\u6613\u4f4dt(11;9)(p15;p23)\u3002\u901a\u8fc7HumanCytoSNP-12\u82af\u7247\u5206\u6790\uff0c\u786e\u5b9a\u4e86\u4ece9p24.3\u52309p23\u768413Mb\u7f3a\u5931\u548c\u4ece9p23\u52309p21.2\u768412.5Mb\u91cd\u590d\u3002\u6838\u578b\u8bb0\u8f7d\u4e3a45,XX,psu dic(11; 9)(p15;p23)\uff0c\u8fd9\u662f\u9996\u6b21\u62a5\u544a\u3002\u4ece9p24.3\u52309p23\u7684\u7f3a\u5931\u533a\u57df\u4e0e\u5355\u4f539p\u75c7\u5019\u7fa4\u7684\u5019\u9009\u533a\u57df\u91cd\u53e0\uff0c\u5e76\u4e14\u5305\u542b\u53ef\u80fd\u4e0e\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\uff08ASD\uff09\u76f8\u5173\u7684\u57fa\u56e0\u5ea7\u3002\u4ece9p23\u52309p21.2\u7684\u91cd\u590d\u533a\u57df\u662f\u4e4b\u524d\u786e\u5b9a\u76849p\u91cd\u590d\u75c7\u5019\u7fa4\u7684\u91cd\u8981\u533a\u57df\u3002\u8fd9\u4e9b\u7ed3\u679c\u6697\u793a\u4e86\u4e00\u79cd\u770b\u4f3c\u5e73\u8861\u7684de novo\u6613\u4f4d\u53ef\u80fd\u4f1a\u5bfc\u81f4\u5fae\u5c0f\u7684\u7f3a\u5931\u6216\u91cd\u590d\uff0c\u51c6\u786e\u5730\u6620\u5c04\u5f02\u5e38\u533a\u57df\u53ef\u80fd\u4f1a\u6539\u5584\u4e34\u5e8a\u7ba1\u7406\u3002<\/p>\n    <a href=\"https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S0378111912004623\">https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S0378111912004623<\/a>\n  <\/div>\n  <\/div>\n\n\n\n<div>\n  <h3>18p \u7f3a\u5931<\/h3>\n  <div class=\"ac-title\">\n    <h4>\u8868\u73b0\u4e3a\u5168\u5782\u4f53\u708e\u7684\uff08\u65b0\u751f\uff09\u7a81\u53d8<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>18\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u7f3a\u5931\u662f\u4e00\u79cd\u7f55\u89c1\u7684\u75be\u75c5\uff0c\u5176\u7279\u5f81\u4e3a\u667a\u529b\u969c\u788d\u3001\u751f\u957f\u8fdf\u7f13\u3001\u9885\u9762\u7578\u5f62\uff08\u7a81\u51fa\u8033\u6735\u3001\u5c0f\u5934\u7578\u5f62\u3001\u773c\u7751\u4e0b\u5782\u3001\u5706\u8138\u7b49\uff09\u3002\u5176\u8868\u578b\u8c31\u5e7f\u6cdb\uff0c\u4ece\u8f7b\u5ea6\u7684\u5148\u5929\u7578\u5f62\u5230\u5168\u5782\u4f53\u75c7\u7b49\u5404\u79cd\u5f02\u5e38\u90fd\u5305\u62ec\u5728\u5185\u3002\u6211\u4eec\u62a5\u544a\u4e86\u4e00\u4e2a\u4e24\u5c81\u5973\u7ae5\u7684\u75c5\u4f8b\uff0c\u8868\u73b0\u4e3a\u773c\u7751\u4e0b\u5782\u3001\u5706\u8138\u3001\u4f4e\u5934\u53d1\u53d1\u9645\u7ebf\u3001\u4f4e\u8eab\u9ad8\u548c\u5168\u5782\u4f53\u75c7\u3002\u7531\u4e8e\u4e2d\u8033\u708e\u53cd\u590d\u53d1\u4f5c\uff0c\u63a5\u53d7\u4e86\u4eba\u5de5\u547c\u5438\u7ba1\u63d2\u5165\u672f\u3002\u8111\u78c1\u5171\u632f\u6210\u50cf\u663e\u793a\u5f02\u4f4d\u5782\u4f53\u540e\u53f6\u3001\u5782\u4f53\u6897\u7684\u53ef\u89c6\u5316\u8f83\u5c11\uff0c\u571f\u8033\u5176\u978d\u6d45\u5c0f\u3002\u7ec6\u80de\u9057\u4f20\u5b66\u548c\u67d3\u8272\u4f53\u5fae\u9635\u5217\u5206\u6790\u8868\u660e\uff0c18\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u5b58\u5728de novo\u7f3a\u5931\uff08arr 18p11.32p11.21[136,227-15,099,116]x1\uff09\u3002\u8bca\u65ad\u4e3a\u751f\u957f\u6fc0\u7d20\u7f3a\u4e4f\u75c7\uff0c\u5e76\u4ece6\u4e2a\u6708\u9f84\u5f00\u59cb\u63a5\u53d7\u57fa\u56e0\u91cd\u7ec4\u4eba\u751f\u957f\u6fc0\u7d20\uff08GH\uff09\u6cbb\u7597\u3002\u5979\u7684\u751f\u957f\u901f\u7387\u5728GH\u6cbb\u7597\u7684\u5f71\u54cd\u4e0b\u5f97\u5230\u6539\u5584\uff0c\u65e0\u526f\u4f5c\u7528\u3002\u6b64\u6848\u4f8b\u6269\u5927\u4e8618p\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u8868\u578b\u8c31\uff0c\u5e76\u5f3a\u8c03\u4e86\u5728\u6b64\u7efc\u5408\u5f81\u4e2d\uff0cGH\u6cbb\u7597\u5bf9\u76f4\u7ebf\u751f\u957f\u7684\u79ef\u6781\u5f71\u54cd\u3002\u6709\u5fc5\u8981\u8fdb\u4e00\u6b65\u7814\u7a7618p\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u7f3a\u5931\u5927\u5c0f\u548c\u57fa\u56e0\u578b\u4e0e\u8868\u578b\u7684\u76f8\u5173\u6027\uff0c\u5e76\u8fdb\u884c\u8fdb\u4e00\u6b65\u7814\u7a76\u4ee5\u9884\u6d4b\u9884\u540e\u3002<\/p>\n    <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/30943682\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/30943682\/<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>\u6301\u670918p\u67d3\u8272\u4f53\u7f3a\u5931\u7684\u6210\u5e74\u7537\u6027\u7684\u8ddf\u8e2a\u7814\u7a76<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>18p-\u7efc\u5408\u5f81\u5df2\u77e540\u591a\u5e74\uff0c\u6700\u521d\u7531de Grouchy\u7b49\u4eba\u62a5\u9053\uff3bComptes Rendus Hebdomadaires S\u00e9ances l&#8217;Acad Sci 256 (1963) 1028\uff3d\u3002\u7cbe\u795e\u53d1\u80b2\u8fdf\u7f13\u7684\u4e25\u91cd\u7a0b\u5ea6\u5404\u4e0d\u76f8\u540c\u662f\u6700\u4e0d\u53d8\u7684\u7279\u5f81\u3002\u5df2\u62a5\u544a100\u591a\u4f8b\u75c5\u4f8b\u3002\u6700\u5e74\u957f\u7684\u60a3\u8005\u4e3a50\u5c81 [Hum Genet 63 (1983) 139; Clin Genet 2 (1971) 338]\u3002\u6709\u4e24\u4f8b\u6210\u5e74\u60a3\u8005[Ann G\u00e9n\u00e9t 29 (1986) 107]\u7684\u8ffd\u8e2a\u7814\u7a76\u5df2\u62a5\u9053\uff0c\u73b0\u5e74\u9f84\u5206\u522b\u4e3a42\u5c81\u548c62\u5c81\u3002\u9700\u8981\u8fdb\u4e00\u6b65\u62a5\u544a\u75c5\u4f8b\u4ee5\u66f4\u6e05\u695a\u5730\u4e86\u89e318p-\u7efc\u5408\u5f81\u7684\u6210\u5e74\u60a3\u8005\u7684\u8fdb\u5c55\u3002<\/p>\n    <a href=\"https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S1769721205000303?via%3Dihub\">https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S1769721205000303?via%3Dihub<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>\u8868\u73b0\u4e3a\u8f6c\u5b50\u75c7\u5019\u7fa4\u7c7b\u4f3c\u7684\u4f4e\u8eab\u9ad8\u3001\u77ed\u9888\u3001\u4f4e\u5934\u53d1\u53d1\u9645\u7ebf\u3001\u80bf\u80c0\u7684\u773c\u7751\u3001\u8098\u5173\u8282\u5c48\u66f2\u89d2\u589e\u52a0\u7b49\u4e34\u5e8a\u7279\u5f81\u768418p\u7f3a\u5931\u7efc\u5408\u5f81\u768413\u5c81\u5973\u7ae5<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\n  \u62a5\u544a\u4e00\u4f8b\u8868\u73b0\u4e3a\u8f6c\u5b50\u75c7\u5019\u7fa4\u7c7b\u4f3c\u4e34\u5e8a\u75c7\u72b6\u768418p\u7f3a\u5931\u7efc\u5408\u5f81\u768413\u5c81\u5973\u7ae5\u3002<br>\n  \u75c5\u4f8b\u62a5\u544a<br>\n  13\u5c81\u5973\u7ae5\u56e0\u4f4e\u8eab\u9ad8\u3001\u77ed\u9888\u3001\u4f4e\u5934\u53d1\u53d1\u9645\u7ebf\u3001\u80bf\u80c0\u7684\u773c\u7751\u3001\u8098\u5173\u8282\u5c48\u66f2\u89d2\u589e\u52a0\u7b49\u8f6c\u5b50\u75c7\u5019\u7fa4\u6837\u4e34\u5e8a\u7279\u5f81\u800c\u88ab\u63a8\u8350\u8fdb\u884c\u9057\u4f20\u54a8\u8be2\u3002\u5973\u7ae5\u8fd8\u60a3\u6709\u8f7b\u5ea6\u667a\u529b\u969c\u788d\u3001\u7cbe\u795e\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\u3001\u8bed\u8a00\u969c\u788d\u3001\u9ad8\u9885\u88c2\u5507\u3001\u591a\u6307\u75c7\u3001\u4e2d\u9762\u90e8\u4f4e\u53d1\u80b2\u3002\u5973\u7ae5\u7684\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790\u7ed3\u679c\u663e\u793a\u6838\u578b\u4e3a46,XX,del(18)(p11.2)\u3002\u7236\u6bcd\u7684\u6838\u578b\u6b63\u5e38\u3002\u4ece\u5916\u5468\u8840\u63d0\u53d6\u7684DNA\u8fdb\u884c\u7684\u57fa\u56e0\u82af\u7247\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4\u5206\u6790\u7ed3\u679c\u663e\u793a18p11.32-p11.21\u6216arr 18p11.32p11.21\u768413.93-MB\u7f3a\u5931\u3002\u7f3a\u5931\u533a\u57df\u5305\u62ecUSP14\u3001TYMS\u3001SMCHD1\u3001TGIF1\u3001LAMA1\u3001TWSG1\u3001GNAL\u548cPTPN2\u7b4952\u4e2aMendelian Inheritance in Man\uff08OMIM\uff09\u57fa\u56e0\u3002\u591a\u6001DNA\u6807\u8bb0\u5206\u6790\u8868\u660e\uff0c\u7f3a\u5931\u662f\u6bcd\u4eb2\u9057\u4f20\u7684\u3002<br>\n  \u7ed3\u8bba<br>\n  \u8868\u73b0\u4e3a\u667a\u529b\u969c\u788d\u3001\u9762\u90e8\u7578\u5f62\u3001\u7cbe\u795e\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\u7684\u8f6c\u5b50\u75c7\u5019\u7fa4\u6837\u4e34\u5e8a\u7279\u5f81\u7684\u5973\u6027\u5e94\u8003\u8651\u67d3\u8272\u4f53\u7f3a\u5931\u7efc\u5408\u5f81\u3002<\/p>\n    <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/30122583\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/30122583\/<\/a>\n  <\/div>\n  \n  <div class=\"ac-title\">\n    <h4>\u67d3\u8272\u4f5318p\u7f3a\u5931\u7efc\u5408\u5f81\u5e76\u975e\u5bf9\u79f0\u6027\u4e2d\u9694\u80a5\u5927\u5408\u5e76\u7684\u5a74\u513f\u7684\u4e00\u4f8b<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>18p\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u53d1\u75c5\u7387\u7ea6\u4e3a5\u4e07\u5206\u4e4b\u4e00\uff0c\u5e38\u4f34\u6709\u4f4e\u8eab\u9ad8\u3001\u667a\u529b\u969c\u788d\u3001\u9762\u90e8\u7578\u5f62\u7b49\u4e34\u5e8a\u7279\u5f81\u3002\u672c\u75c5\u4f8b\u7684\u8eab\u4f53\u68c0\u67e5\u53d1\u73b0\u4f4e\u8eab\u9ad8\u3001\u667a\u529b\u969c\u788d\u3001\u9762\u90e8\u7578\u5f62\uff08\u5c0f\u5934\u7578\u5f62\u3001\u773c\u7751\u4e0b\u5782\u3001\u5916\u7ffb\u8dbe\u3001\u4f4e\u9f3b\u6881\u3001\u7a81\u51fa\u7684\u8033\u6735\u3001\u957f\u6307\u3001\u8584\u5507\uff09\u4ee5\u53ca\u7b2c\u4e94\u6307\u622a\u65ad\u3002\u5468\u8fb9\u6838\u578b\u4e3a46\u3001XX\u3001del\uff0818\uff09\uff08p11.32p11.2\uff09\u3002DNA\u5fae\u9635\u5217\u5206\u6790\u663e\u793a18p11.32p.11.21\u5b58\u572813.9-MB\u7684de novo\u7f3a\u5931\u3002\u5fc3\u810f\u8d85\u58f0\u68c0\u67e5\u663e\u793a\u975e\u5bf9\u79f0\u6027\u4e2d\u9694\u80a5\u5927\u3002\u5728\u8be5\u7efc\u5408\u5f81\u4e2d\uff0c\u5148\u5929\u6027\u5fc3\u810f\u5f02\u5e38\u975e\u5e38\u7f55\u89c1\u3002\u8fd9\u4e9b\u53d1\u73b0\u6697\u793a\u7740\u4e0e\u5fc3\u810f\u53d1\u80b2\u76f8\u5173\u7684\u57fa\u56e0\u6216\u57fa\u56e0\u4f4d\u70b9\u4f4d\u4e8e\u8be5\u67d3\u8272\u4f53\u533a\u57df\u3002\u5728\u8bc4\u4f30\u5177\u6709\u8868\u578b\u5f02\u5e38\u548c18p\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u60a3\u8005\u7684\u9057\u4f20\u5b66\u7ed3\u679c\u65f6\uff0c\u5e94\u8003\u8651\u5fc3\u808c\u80a5\u5927\u3002<\/p>\n  <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/35707779\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/35707779\/<\/a>\n<\/div>\n  \n<div class=\"ac-title\">\n    <h4>18p\u7f3a\u5931\u7efc\u5408\u75c7\u60a3\u80054\u4eba\u7684\u667a\u529b\u3001\u9002\u5e94\u6027\u548c\u884c\u4e3a\u7279\u5f81<\/h4>\n<\/div>\n<div class=\"ac-content\">\n    <p>\n        \u80cc\u666f<br>\n        \u5728\u7531\u67d3\u8272\u4f53\u5f02\u5e38\u5f15\u8d77\u7684\u75c7\u5019\u7fa4\u4e2d\uff0c\u598218p\u7f3a\u5931\u7efc\u5408\u75c7\uff0c\u884c\u4e3a\u8868\u578b\u8bc4\u4f30\u4e0e\u7ec6\u80de\u9057\u4f20\u5b66\u7279\u5f81\u7684\u76f8\u5173\u6027\u53ef\u80fd\u6709\u52a9\u4e8e\u52a0\u6df1\u5bf9\u57fa\u56e0\u578b-\u8868\u578b\u76f8\u5173\u7684\u7406\u89e3\u3002<br>\n        \u65b9\u6cd5<br>\n        \u6211\u4eec\u62a5\u544a\u4e864\u540d\u5df4\u897f18p\u7f3a\u5931\u7efc\u5408\u75c7\u60a3\u8005\u7684\u7279\u5f81\uff0c\u8fd9\u4e9b\u7279\u5f81\u901a\u8fc7\u7ec6\u80de\u9057\u4f20\u5b66\u65b9\u6cd5\u548c\u8be6\u7ec6\u7684\u795e\u7ecf\u5fc3\u7406\u5b66\u8bc4\u4f30\u8fdb\u884c\u4e86\u8868\u5f81\u3002\u667a\u529b\u7279\u5f81\u3001\u9002\u5e94\u7279\u5f81\u548c\u884c\u4e3a\u7279\u5f81\u5206\u522b\u4f7f\u7528Wechsler&#8217;s Scale\u3001Vineland-II Scale\u548cChild Behaviour Checklist\u8fdb\u884c\u8bc4\u4f30\u3002\u6b64\u5916\uff0c\u8fd8\u6536\u96c6\u4e86\u5df4\u897f\u793e\u4f1a\u9636\u5c42\u5206\u7c7b\u6807\u51c6\u4e2d\u5b9a\u4e49\u7684\u4e3b\u8981\u629a\u517b\u8005\u7684\u6559\u80b2\u6c34\u5e73\u548c\u5bb6\u5ead\u6536\u5165\u7b49\u793e\u4f1a\u7ecf\u6d4e\u6307\u6807\uff0c\u4ee5\u8bc4\u4f30\u73af\u5883\u56e0\u7d20\u5bf9\u795e\u7ecf\u8ba4\u77e5\u53d8\u5316\u7684\u8d21\u732e\u3002<br>\n        \u7ed3\u679c<br>\n        \u57284\u540d\u60a3\u8005\u4e2d\u67092\u540d\u5b58\u5728\u667a\u529b\u969c\u788d\uff08IQ\uff1c70\uff09\u3002\u6839\u636e\u97e6\u6c0f\u91cf\u8868\u7684\u7ed3\u679c\uff0c\u6211\u4eec\u7684\u6837\u672c\u663e\u793a\uff0c\u6839\u636e\u975e\u8bed\u8a00\u884c\u4e3a\u7684\u89c2\u5bdf\uff0c\u793e\u4f1a\u60c5\u5883\u7684\u89e3\u91ca\u53ef\u80fd\u6784\u6210\u8ba4\u77e5\u4f18\u52bf\uff0c\u800c\u4e0e\u793e\u4f1a\u89c4\u5219\u7684\u5224\u65ad\u3001\u8bcd\u6c47\u77e5\u8bc6\u548c\u6d41\u5229\u7684\u8bed\u8a00\u80fd\u529b\u76f8\u5173\u7684\u8bed\u8a00\u6280\u80fd\u53ef\u80fd\u6784\u6210\u8ba4\u77e5\u52a3\u52bf\u3002\u5728\u9002\u5e94\u884c\u4e3a\u65b9\u9762\uff0c\u6839\u636eVineland-II Scale\uff0c\u663e\u793a\u8fd0\u52a8\u80fd\u529b\u548c\u793e\u4ea4\u9886\u57df\u7684\u53d1\u5c55\u8f83\u65e5\u5e38\u751f\u6d3b\u80fd\u529b\u548c\u6c9f\u901a\u80fd\u529b\u66f4\u597d\u3002\u57fa\u4e8e\u513f\u7ae5\u884c\u4e3a\u91cf\u8868\uff08Child Behaviour Checklist\uff09\u7684\u5185\u5316\u884c\u4e3a\u95ee\u9898\u5448\u73b0\u51fa\u7684\u60a3\u8005\u4ec5\u67091\u4eba\u3002\u7531\u6b64\u7ed3\u679c\uff0c\u6697\u793a\u4e86\u793e\u4f1a\u7ecf\u6d4e\u5730\u4f4d\u53ef\u80fd\u5f71\u54cd\u4e86\u60a3\u8005\u6574\u4f53\u53d1\u5c55\u7684\u53ef\u80fd\u6027\u3002<br>\n        \u7ed3\u8bba<br>\n        \u6211\u4eec\u7684\u7ed3\u679c\u8868\u660e\uff0c18p\u7f3a\u5931\u7efc\u5408\u75c7\u60a3\u8005\u4e2d\u5b58\u5728\u8868\u73b0\u51fa\u5e73\u5747\u667a\u529b\u7684\u4e2a\u4f53\uff0c\u5e76\u4e14\u7f3a\u5931\u7684\u5927\u5c0f\u548c\u5bb6\u5ead\u7684\u793e\u4f1a\u7ecf\u6d4e\u72b6\u51b5\u53ef\u80fd\u5f71\u54cd\u8ba4\u77e5\u53d1\u5c55\u3002\n    <\/p>\n    <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/30536814\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/30536814\/<\/a>\n<\/div>\n\n<div class=\"ac-title\">\n    <h4>\u67d3\u8272\u4f5318p\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u57fa\u56e0\u578b\u4e0e\u8868\u578b\uff1a\u75c5\u4f8b\u7cfb\u5217<\/h4>\n<\/div>\n<div class=\"ac-content\">\n    <p>\n        \u7406\u7531\uff1a\u67d3\u8272\u4f5318p\u7f3a\u5931\u7efc\u5408\u75c7\u662f\u630718\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u5168\u90e8\u6216\u90e8\u5206\u7f3a\u5931\u7684\u75c7\u5019\u7fa4\u3002\u67d3\u8272\u4f5318p\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u8868\u578b\u56e0\u7f3a\u5931\u7684\u5927\u5c0f\u3001\u5207\u65ad\u70b9\u548c\u6d89\u53ca\u7684\u57fa\u56e0\u800c\u5f02\u3002\u8003\u8651\u5230\u8be5\u75c7\u5019\u7fa4\u7684\u591a\u6837\u5316\u548c\u975e\u5178\u578b\u7684\u4e34\u5e8a\u8868\u73b0\uff0c\u8be5\u75c7\u5019\u7fa4\u7684\u4ea7\u524d\u8bca\u65ad\u4ecd\u7136\u5177\u6709\u6311\u6218\u6027\u3002<br>\n        \u60a3\u8005\u7684\u95ee\u9898<br>\n        \u6211\u4eec\u62a5\u544a\u4e864\u4f8b\u4e2d\u56fd\u75c5\u4f8b\uff0c\u67d3\u8272\u4f53\u5207\u65ad\u70b9\u4e0d\u540c\u3002\u75c5\u4f8b1\u4ea7\u751f\u4e86\u4e00\u4e2a\u8f7b\u5ea6\u8868\u578b\u7684\u5973\u6027\uff0c\u5979\u751f\u4e0b\u4e86\u4e00\u4e2a\u91cd\u5ea6\u7578\u5f62\u7684\u80ce\u513f\u3002\u5176\u4ed63\u4f8b\u662f\u4ea7\u524d\u8bca\u65ad\u3002\u8fd9\u4e9b\u8868\u578b\u5206\u522b\u8868\u73b0\u4e3a\u6838\u900f\u5149\u6027\uff08INT\uff09\u589e\u52a0\u4ee5\u53ca\u67d3\u8272\u4f5318p\u4e0a\u7684\u7f3a\u5931\u548c\u4e25\u91cd\u7684\u6c34\u80bf\u75c5\u5728\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u67e5\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09\u4e2d\u663e\u793a\u3002<br>\n        \u8bca\u65ad<br>\n        4\u4f8b\u901a\u8fc7\u6838\u578b\u5206\u6790\u548c\u57fa\u4e8e\u6570\u7ec4\u7684\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4\uff08array-CGH\uff09\u88ab\u8bca\u65ad\u4e3a\u67d3\u8272\u4f5318p\u7f3a\u5931\u7efc\u5408\u75c7\u3002<br>\n        \u5e72\u9884<br>\n        \u901a\u8fc7\u6838\u578b\u5206\u6790\u548c\u57fa\u4e8e\u6570\u7ec4\u7684\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4\u5206\u6790\u5f02\u5e38\u67d3\u8272\u4f53\u3002<br>\n        \u7ed3\u679c<br>\n        \u75c5\u4f8b1\u548c\u75c5\u4f8b2\u663e\u793a\u51fa18p11.32p11.21\u768411.51Mb\u548c12.39Mb\u7684\u7f3a\u5931\u3002\u75c5\u4f8b3\u572818p11.3218p11.23\u4e0a\u663e\u793a\u51fa7.1Mb\u7684\u7f3a\u5931\u3002\u75c5\u4f8b4\u663e\u793a\u51fa18p11.3218p11.22\u4e0a\u76849.9Mb\u7684\u7f3a\u5931\u3002\n        \u5728\u672c\u6b21\u62a5\u544a\u4e2d\uff0c\u9996\u6b21\u62a5\u9053\u4e86\u5177\u6709\u76f8\u540c\u67d3\u8272\u4f53\u5207\u65ad\u70b9\u7684\u6bcd\u4eb2\u548c\u540e\u4ee3\u7684\u8868\u578b\u663e\u8457\u4e0d\u540c\u3002\u6b64\u5916\uff0c\u5728\u80ce\u513f\u4e2d\u53d1\u73b0\u4e86\u67d3\u8272\u4f5318p\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u65b0\u8868\u578b\uff0c\u53ef\u4ee5\u4e30\u5bcc\u8be5\u75c7\u5019\u7fa4\u7684\u4ea7\u524d\u8bca\u65ad\u3002\u6700\u540e\uff0c\u6211\u4eec\u53d1\u73b0\u4e0d\u540c\u4e2a\u4f53\u7684\u67d3\u8272\u4f5318p\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u67d3\u8272\u4f53\u5207\u65ad\u70b9\u53ef\u80fd\u5bfc\u81f4\u4e0d\u540c\u7684\u8868\u578b\u3002\u53e6\u4e00\u65b9\u9762\uff0c\u5373\u4f7f\u5728\u67d3\u8272\u4f5318p\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u67d3\u8272\u4f53\u4e0a\u5177\u6709\u76f8\u540c\u7684\u65ad\u88c2\u70b9\uff0c\u8868\u578b\u4e5f\u53ef\u80fd\u5b58\u5728\u663e\u8457\u5dee\u5f02\u3002\n    <\/p>\n    <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/33950970\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/33950970\/<\/a>\n<\/div>\n\n<div class=\"ac-title\">\n    <h4>\u7ec6\u80de\u9057\u4f20\u5b66\u3001\u5206\u5b50\u751f\u7269\u5b66\u548c\u8868\u578b\u5b66\u89c2\u5bdf(\u65b0\u751f)\u53d8\u5f02\u6d3e\u751f\u67d3\u8272\u4f5318\u578b\u60a3\u8005\u7684\u7279\u5f81\u548c\u6587\u732e\u7efc\u8ff0<\/h4>\n<\/div>\n<div class=\"ac-content\">\n    <p>\n        \u6211\u4eec\u4ecb\u7ecd\u4e86\u4e00\u4f4d\u5177\u670918p\u672b\u7aef\u7f3a\u5931\u548c18q\u672b\u7aef\u91cd\u590d\u4ee5\u53ca18p\u5fae\u91cd\u590d\u7684de novo 18\u53f7\u67d3\u8272\u4f53\u60a3\u8005\u3002\u8fd9\u540d\u5973\u5a74\u5177\u6709\u8f7b\u5ea6\u7684\u5f02\u5e38\u5f62\u6001\u5b66\u7279\u5f81\uff0c\u5982\u5fae\u5c0f\u7684\u540e\u80cc\u3001\u5507\u816d\u88c2\u3001\u53cc\u4fa7\u816d\u5e06\u3001\u9ad8\u9885\u9876\u3001\u4f4e\u8033\u3001\u77ed\u9888\u3001\u4e30\u6ee1\u7684\u9762\u988a\u3002\u6b64\u5916\uff0c\u5979\u8fd8\u60a3\u6709H\u578b\u6c14\u7ba1\u98df\u7ba1\u7618\uff0c\u9700\u8981\u624b\u672f\u6cbb\u7597\u3002\u8ba4\u77e5\u80fd\u529b\u548c\u8fd0\u52a8\u80fd\u529b\u5747\u6709\u5ef6\u8fdf\u3002\u6838\u578b\u5206\u6790\u663e\u793a\uff0c18\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u5177\u6709\u989d\u5916\u7684\u5206\u6bb5\u3002\u67d3\u8272\u4f53\u5fae\u9635\u5217\u7684\u7ed3\u679c\u663e\u793a\uff0c\u572818p11.32\u523018p11.23\u4e4b\u95f4\u51fa\u73b0\u4e867.3-MB\u7684\u672b\u7aef\u7f3a\u5931\uff0c\u572818q21.31\u523018q23\u4e4b\u95f4\u51fa\u73b0\u4e8622.2-MB\u7684\u672b\u7aef\u589e\u52a0\uff0c\u572818p11.22\u523018p11.21\u4e4b\u95f4\u51fa\u73b0\u4e863.9-MB\u7684\u95f4\u8d28\u589e\u52a0\u3002\u6211\u4eec\u63a8\u6d4b\uff0c\u6bcd\u4eb2\u53ef\u80fd\u5177\u6709\u6b63\u5e38\u768418\u53f7\u67d3\u8272\u4f53\u3001der(18)dup(p11.22p11.21)\u3001der(18)dup(p11.22p11.21)inv(18)(p11.22q21.31)\u7684\u751f\u6b96\u7ec6\u80de\u4f53\u7ec6\u80de\u7cfb\u8702\u7a9d\u6216\u540c\u65f6\u53d1\u751f\u672b\u7aef\u7684del\/dup\u548c\u95f4\u8d28\u6027\u91cd\u590d\u3002<\/p>\n    <a href=\"https:\/\/karger.com\/cgr\/article-abstract\/159\/2\/74\/62594\/Cytogenetic-Molecular-and-Phenotypic?redirectedFrom=fulltext\">https:\/\/karger.com\/cgr\/article-abstract\/159\/2\/74\/62594\/Cytogenetic-Molecular-and-Phenotypic?redirectedFrom=fulltext<\/a>\n    <p>\n        \u7531\u4e8e\u7236\u6bcd\u768418\u53f7\u67d3\u8272\u4f53\u5468\u56f4\u6613\u4f4d\uff0c\u8868\u578b\u6b63\u5e38\u768418\u5206\u8282\u5355\u4eb2\u4f53\u5a74\u513f\u51fa\u751f\u3002\n        \u672c\u7814\u7a76\u62a5\u544a\u4e86\u5173\u4e8e\u5bb6\u65cf\u6027\u9006\u4f4d18\u53f7\u67d3\u8272\u4f53\uff0cinv(18)(p11.31q21.33)\u7684\u60c5\u51b5\u3002\u7b2c\u4e00\u4e2a\u5b69\u5b50\u5177\u670918\u53f7\u67d3\u8272\u4f53\u7684\u91cd\u7ec4\u578b\uff0c\u5305\u62ecdup(18q)\/del(18p)\u4ee5\u53ca\u4e00\u4e2a\u5e73\u8861\u768418\u53f7\u67d3\u8272\u4f53\u5012\u4f4d\uff0c\u6ca1\u6709\u7cbe\u795e\u53d1\u80b2\u8fdf\u6ede\uff0c\u4f46\u5177\u6709\u8f7b\u5ea6\u5f02\u5e38\u5f62\u6001\u5b66\u7279\u5f81\u3002\u7b2c\u4e8c\u4e2a\u5b69\u5b50\u5206\u522b\u7ee7\u627f\u4e86\u4e24\u4e2a\u91cd\u7ec4\u578b\u768418\u53f7\u67d3\u8272\u4f53\uff0c\u4ece\u6bcd\u4eb2\u7ee7\u627f\u4e86dup(18p)\/del(18q)\u7684\u6d3e\u751f18\u53f7\u67d3\u8272\u4f53\uff0c\u4ece\u7236\u4eb2\u7ee7\u627f\u4e86dup(18q)\/del(18p)\u7684\u6d3e\u751f18\u53f7\u67d3\u8272\u4f53\u3002\u8fd9\u79cd\u67d3\u8272\u4f53\u5f02\u5e38\u5728\u4ea7\u524d\u88ab\u68c0\u6d4b\u5230\uff0c\u4f46\u7531\u4e8e\u8fd9\u4e24\u79cd\u5f02\u5e38\u4e92\u8865\uff0c\u56e0\u6b64\u5bb6\u5ead\u51b3\u5b9a\u7ee7\u7eed\u6000\u5b55\uff0c\u5c3d\u7ba1\u9664\u4e86\u5012\u4f4d\u4e4b\u5916\u7684\u4e00\u90e8\u5206\u5355\u4eb2\u4f53\u5728\u513f\u7ae5\u7684\u751f\u957f\u53d1\u80b2\u4e2d\u53ef\u80fd\u4ea7\u751f\u8d1f\u9762\u5f71\u54cd\u3002\u5355\u4eb2\u4e0d\u5206\u79bb\u7ecf\u7531SNP\u9635\u5217\u786e\u8ba4\u3002\u89c2\u5bdf\u4e86\u8fd9\u4e9b\u5b69\u5b50\u76f4\u523020\u4e2a\u6708\u5927\uff0c\u4ed6\u4eec\u7684\u5065\u5eb7\u72b6\u51b5\u6b63\u5e38\u3002\u8fd9\u4e2a\u75c5\u4f8b\u662f\u7b2c\u4e00\u4e2a\u62a5\u9053\u4e24\u4e2a\u76f8\u53cd\u7684\u91cd\u7ec4\u67d3\u8272\u4f53\u4e92\u8865\u5e76\u5bfc\u81f418\u53f7\u67d3\u8272\u4f53\u4e0a\u7684\u4e24\u4e2a\u7247\u6bb5\uff08\u4e00\u4e2a\u6765\u81ea\u6bcd\u4eb2\uff0c\u53e6\u4e00\u4e2a\u6765\u81ea\u7236\u4eb2\uff09\u7684\u7247\u6bb5\u5355\u4eb2\u4f53\u7684\u62a5\u9053\u4f8b\u5b50\u3002\n    <\/p>\n    <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3083628\/\">https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3083628\/<\/a>\n<\/div>\n\n<div class=\"ac-title\">\n    <h4>18\u53f7\u67d3\u8272\u4f53\u91cd\u6392\u4e2d\u7684\u6bcd\u4f53\u5468\u56f4\u9006\u4f4d\u7684\u5206\u5b50\u673a\u5236\u548c\u6587\u732e\u7efc\u8ff0<\/h4>\n<\/div>\n<div class=\"ac-content\">\n    <p>\n        \u5927\u591a\u6570\u67d3\u8272\u4f53\u91cd\u6392\u662f\u901a\u8fc7\u975e\u540c\u6e90\u540c\u6784\u91cd\u6392\u4ecb\u5bfc\u7684\uff0c\u5982\u4f4e\u62f7\u8d1d\u91cd\u590d\uff08LCR\uff09\u548c\u7247\u6bb5\u91cd\u590d\uff08SD\uff09\u3002\u6700\u8fd1\u7684\u7814\u7a76\u96c6\u4e2d\u572818\u53f7\u67d3\u8272\u4f53\u91cd\u6392\uff08rec(18)\uff09\u7684\u8bca\u65ad\u548c\u4e34\u5e8a\u8868\u73b0\u4e0a\u3002\u6211\u4eec\u8bca\u65ad\u4e86\u4e24\u4f8b\u4ea7\u524d18\u53f7\u67d3\u8272\u4f53\u91cd\u6392\u7684\u75c5\u4f8b\uff0c\u5e76\u4f7f\u7528\u6838\u578b\u548c\u67d3\u8272\u4f53\u5fae\u9635\u5217\u5206\u6790\u786e\u5b9a\u4e86\u7cbe\u786e\u7684\u65ad\u88c2\u70b9\u95f4\u9694\u3002\u6211\u4eec\u901a\u8fc7\u5206\u6790\u65ad\u88c2\u70b9\u91cd\u590d\u5143\u7d20\u7684\u5206\u5e03\u7279\u6027\u6765\u4f30\u8ba1\u91cd\u6392\u7684\u673a\u5236\uff0c\u5e76\u901a\u8fc7\u68c0\u67e5\u76f8\u5173\u6587\u732e\u6765\u63ed\u793a\u9057\u4f20\u8d8b\u52bf\u3002\u5728\u6211\u4eec\u5206\u6790\u768412\u4e2a\u5bb6\u5ead\u4e2d\u768425\u6b21\u598a\u5a20\u4e2d\uff0c68\uff05\u662frec\uff0818\uff09\u6848\u4f8b\uff0c24\uff05\u662f\u81ea\u7136\u6d41\u4ea7\u6848\u4f8b\uff0c8\uff05\u662f\u6b63\u5e38\u5206\u5a29\u6848\u4f8b\u3002\u572817\u4f8brec\uff0818\uff09\u75c5\u4f8b\u4e2d\uff0c65\uff05\u4e3a\u6bcd\u4f53\u6765\u6e90\uff0c35\uff05\u4e3a\u7236\u4f53\u6765\u6e90\u3002 p11.31\u7684\u77ed\u81c2\u65ad\u88c2\u70b9\u670910\u4f8b\u62a5\u9053\uff0c\u4f46\u957f\u81c2\u65ad\u88c2\u70b9\u5206\u522b\u4f4d\u4e8eq21.3\uff086\u4f8b\uff09\u548cq12\uff084\u4f8b\uff09\u3002 18\u53f7\u67d3\u8272\u4f53\u8fd1\u7aef\u5012\u4f4d\u7684\u65ad\u88c2\u70b9\u96c6\u4e2d\u5728p11.31\u3001q21.3\u548cq12\u533a\u57df\u300218p11.31\u7684\u91cd\u6392\u662f\u975e\u590d\u53d1\u6027\u7684\u3002 ALU\uff0cLINE1\u548cMIR\u5728\u65ad\u88c2\u70b9\u533a\u57df\u4e2d\u5bcc\u96c6\uff08\u5728\u6574\u4e2a18\u53f7\u67d3\u8272\u4f53\u4e0a\u5bcc\u96c61.85\u500d\u81f33.42\u500d\uff09\uff0cSD\u548cLCR\u5219\u4e0d\u53ef\u89c1\u3002 ALU\u5b50\u5bb6\u65cf\u5728\u4e24\u4e2a\u65ad\u88c2\u70b9\u4e4b\u95f4\u663e\u793a\u4e8685.94\uff05\u548c83.01\uff05\u7684\u5e8f\u5217\u540c\u4e00\u6027\u3002\u5c0f\u7684\u91cd\u590d\u5143\u7d20\u53ef\u80fd\u901a\u8fc7\u4ecb\u5bfc\u91cd\u6392\u548c\u4fee\u590d\u8fc7\u7a0b\u4fc3\u8fdb18\u53f7\u67d3\u8272\u4f53\u4e0a\u7684\u91cd\u6392\u3002\u6bcd\u4f53\u5012\u4f4d\u4fdd\u6301\u8005\u6613\u4e8e\u5728\u4ea7\u524drec(18)\u5bb6\u7cfb\u4e2d\u4ea7\u751f\u5f02\u5e38\u91cd\u6392\u3002 \u91cd\u6392\u67d3\u8272\u4f53\u53ef\u80fd\u5728\u914d\u5b50\u5f62\u6210\u65f6\u663e\u793a\u4f18\u5148\u5206\u79bb\u3002\n    <\/p>\n    <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/37161033\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/37161033\/<\/a>\n<\/div>\n\n<div class=\"ac-title\">\n    <h4>\u79d8\u9c81\u513f\u7ae5\u8868\u73b0\u4e3a18p-\/18q+\u7efc\u5408\u5f81\u548c\u6301\u7eed\u6027\u663e\u5fae\u8840\u5c3f<\/h4>\n<\/div>\n<div class=\"ac-content\">\n    <p>\n        \u643a\u5e2618\u53f7\u67d3\u8272\u4f53\u6613\u4f4d\u7684\u643a\u5e26\u8005\u53ef\u80fd\u4f1a\u4ea7\u751f\u5177\u6709\u91cd\u7ec4\u67d3\u8272\u4f53\u7684\u540e\u4ee3\uff0c\u5bfc\u81f4\u51fa\u751f\u7684\u60a3\u8005\u8868\u73b0\u51fa\u4e0d\u540c\u7684\u4e34\u5e8a\u75c7\u72b6\u3002\u5177\u670918p-\/18q+\u91cd\u6392\u7684\u60a3\u8005\u5177\u6709\u4e00\u4e9b\u5171\u540c\u7684\u4e34\u5e8a\u7279\u5f81\uff0c\u4f46\u5176\u4ed6\u7279\u5f81\u5219\u4e0d\u540c\u3002\u8fd9\u79cd\u5206\u5c94\u7684\u539f\u56e0\u53ef\u80fd\u662f\u7279\u522b\u662f\u9006\u4f4d\u6bb5\u7684\u957f\u5ea6\u3002\u6211\u4eec\u62a5\u9053\u4e86\u4e00\u4e2a\u79d8\u9c81\u513f\u7ae5\u7684\u75c5\u4f8b\uff0c\u8be5\u513f\u7ae5\u8868\u73b0\u51fa\u7578\u5f62\u3001\u667a\u529b\u969c\u788d\u3001\u6301\u7eed\u6027\u663e\u5fae\u8840\u5c3f\u3001\u4e3b\u52a8\u8109\u5047\u6027\u52a8\u8109\u7624\u548c\u4e0b\u884c\u4e3b\u52a8\u8109\u708e\u7b49\u7279\u5f81\u3002\u901a\u8fc7\u5bb6\u65cf\u6838\u578b\u5206\u6790\uff0c\u53d1\u73b0\u6bcd\u4eb2\u662f18[inv(18)(p11.2q21.3)]\u7684\u8fd1\u7aef\u9006\u4f4d\u643a\u5e26\u8005\u3002\u8be5\u513f\u7ae5\u643a\u5e26\u91cd\u7ec418\u53f7\u67d3\u8272\u4f53\uff0c\u5e76\u4e14\u67d3\u8272\u4f53\u5fae\u9635\u5217\u5206\u6790\u663e\u793a\uff0c\u60a3\u8005\u768418\u53f7\u67d3\u8272\u4f53\u4e0a\u5b58\u5728\u4e24\u4e2a\u57fa\u56e0\u7ec4\u4e0d\u5e73\u8861\u300218p-\/18q+\u7efc\u5408\u5f81\u7684\u8868\u578b\u4e2d\u5c1a\u672a\u62a5\u544a\u6301\u7eed\u6027\u663e\u5fae\u8840\u5c3f\u3002\u8be5\u75c5\u4f8b\u63ed\u793a\u4e86\u5728\u8fd9\u79cd\u7c7b\u578b\u768418\u53f7\u67d3\u8272\u4f53\u91cd\u6392\u4e2d\u4e0e\u534a\u63a5\u5408\u76f8\u5173\u7684\u57fa\u56e0\u578b-\u8868\u578b\u76f8\u5173\u6027\u4e0d\u6ee1\u8db3\uff0c\u6216\u8005\u89e3\u91ca\u4e86\u5176\u4ed6\u56e0\u7d20\u5728\u60a3\u8005\u53d8\u8001\u65f6\u5448\u73b0\u51fa\u8fd9\u79cd\u7279\u5f81\u7684\u91cd\u8981\u4f5c\u7528\uff0c\u8fd9\u4e9b\u56e0\u7d20\u76ee\u524d\u5c1a\u672a\u88ab\u53d1\u73b0\u3002\n    <\/p>\n    <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/29142771\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/29142771\/<\/a>\n<\/div>\n<\/div>\n\n\n\n<div>\n  <h3>\u5fae\u5c0f\u7f3a\u5931\u30fb\u91cd\u590d<\/h3>\n  <div class=\"ac-title\">\n    <h4>\u5fae\u5c0f\u7f3a\u5931\uff1a5025\u4eba\u4e2d1\u4eba\u30fb\u91cd\u590d\uff1a14286\u4eba\u4e2d1\u4eba<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\u6700\u8fd1\u7684\u7814\u7a76\u8868\u660e\uff0c\u6240\u6709\u62a5\u544a\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u4e2d\u67094.7%\u5305\u62ec\u5fae\u5c0f\u7f3a\u5931\uff0c\u6bcf10,000\u4e2a\u51fa\u751f\u4e2d\u67091.99\u4e2a\u60a3\u75c5\u7387\uff083\uff09\u3002\n\u91cd\u590d\u66f4\u5c11\uff0c\u6bcf10,000\u4e2a\u51fa\u751f\u4e2d\u67090.7\u4e2a\u60a3\u75c5\u7387\uff0c\u76f8\u5f53\u4e8e\u62a5\u544a\u7684\u6240\u6709\u67d3\u8272\u4f53\u5f02\u5e38\u76841.6%\uff083\uff09\u3002\n<\/p>\n    <a href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0015028216629643\">https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0015028216629643<\/a>\n  <\/div>\n<\/div>\n\n\n\n<div>\n  <h3>\u5e38\u67d3\u8272\u4f53\u9690\u6027\u75be\u75c5<\/h3>\n  <div class=\"ac-title\">\n    <h4>\u5e38\u67d3\u8272\u4f53\u9690\u6027\u969c\u788d<\/h4>\n  <\/div>\n  <div class=\"ac-content\">\n    <p>\u5e38\u67d3\u8272\u4f53\u9690\u6027\uff08AR\uff09\u75be\u75c5\u6784\u6210\u4e86\u76f8\u5f53\u4e00\u90e8\u5206\u9057\u4f20\u6027\u75be\u75c5\uff0c\u5e76\u4e14\u662f\u76f8\u5f53\u5927\u7684\u75be\u75c5\u8d1f\u62c5\u7684\u539f\u56e0\u3002\u5b83\u5f71\u54cd\u7ea61.75-5\u540d\u65b0\u751f\u513f\u4e2d\u7684\u6bcf1000\u540d\uff08\u800c\u5e38\u67d3\u8272\u4f53\u663e\u6027\u75be\u75c5\u5f71\u54cd1000\u540d\u65b0\u751f\u513f\u4e2d\u76841.4\u540d\uff09\u3002<\/p>\n    <a href=\"https:\/\/www.nature.com\/articles\/s41525-021-00203-x\">https:\/\/www.nature.com\/articles\/s41525-021-00203-x<\/a>\n  <\/div>\n<\/div>\n\n\n\n<style>\n.ac-title h4{\n text-decoration: underline;\n text-decoration-skip-ink: none;\n}\n.ac-content{\n max-height: 0;\n overflow: hidden;\n transition: 1s ease-in-out;\n}\n.active{\n max-height: 1000px;\n transition: 1s ease-in-out;\n}\n<\/style>\n\n\n\n<script>\nconst acBtns = document.querySelectorAll('.ac-title');\n\nacBtns.forEach(function(acBtn){\n acBtn.addEventListener('click',function(){\n   this.classList.toggle('active-title');\n   const acContent = acBtn.nextElementSibling;\n   acContent.classList.toggle('active');\n });\n});\n<\/script>\n","protected":false},"excerpt":{"rendered":"\u5168\u5e38\u67d3\u8272\u4f53\u5168\u9886\u57df\u90e8\u5206\u7f3a\u5931\u30fb\u91cd\u590d\u75be\u60a3\u662f\u67d3\u8272&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":898,"parent":38182,"menu_order":78,"comment_status":"closed","ping_status":"closed","template":"page_wide.php","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-15433","page","type-page","status-publish","has-post-thumbnail","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/15433","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/page"}],"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=15433"}],"version-history":[{"count":30,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/15433\/revisions"}],"predecessor-version":[{"id":109612,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/15433\/revisions\/109612"}],"up":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/38182"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/898"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=15433"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}