{"id":47856,"date":"2021-10-19T16:11:26","date_gmt":"2021-10-19T07:11:26","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/"},"modified":"2024-11-29T11:28:26","modified_gmt":"2024-11-29T02:28:26","slug":"duplication-17p11-2-in-a-child-with-developmental-delay","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/?lang=zh-hans","title":{"rendered":"\u53d1\u80b2\u8fdf\u7f13\u513f\u7ae5\u4e2d\u7684\u91cd\u590d17p11.2(Potocki\u30fbLupsky\u7efc\u5408\u75c7)"},"content":{"rendered":"\n<p>Salwati SHUIB PhD, Nenny Noorina SAAID MMedSc, Zubaidah ZAKARIA<sup>*<\/sup> MBBS, DCP, Juriza ISMAIL <sup>**<\/sup><br>MBBS, MMed and Zarina ABDUL LATIFF<sup>**<\/sup> MMed, MSc<\/p>\n\n\n\n<p>\u9a6c\u6765\u897f\u4e9a\u56fd\u7acb\u5927\u5b66\u533b\u5b66\u4e2d\u5fc3\u75c5\u7406\u5b66\u90e8\u95e8\u3001<sup>*<\/sup>\u533b\u5b66\u7814\u7a76\u6240\u764c\u75c7\u7814\u7a76\u4e2d\u5fc3\u8840\u6db2\u5b66\u7ec4\u3001<sup>**<\/sup>\u9a6c\u6765\u897f\u4e9a\u56fd\u7acb\u5927\u5b66\u533b\u5b66\u4e2d\u5fc3\u513f\u79d1\u7cfb\u3001\u5409\u9686\u5761\u3002<\/p>\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 id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/?lang=zh-hans\/#%E8%A6%81%E7%BA%A6\" >\u8981\u7ea6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/?lang=zh-hans\/#%E5%BA%8F%E8%A8%80\" >\u5e8f\u8a00<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/?lang=zh-hans\/#%E7%97%85%E7%97%87%E6%8A%A5%E5%91%8A\" >\u75c5\u75c7\u62a5\u544a<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/?lang=zh-hans\/#%E8%AE%A8%E8%AE%BA\" >\u8ba8\u8bba<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/?lang=zh-hans\/#%E9%B8%A3%E8%B0%A2\" >\u9e23\u8c22<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/?lang=zh-hans\/#%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\" >\u53c2\u8003\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A6%81%E7%BA%A6\"><\/span>\u8981\u7ea6<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d17p11.2\u7efc\u5408\u75c7<\/a>\u3001\u4f5c\u4e3a\u4e09\u4f53\u7efc\u5408\u75c717p11.2\u6216\u8005dup(17)(p11.2p11.2)\u7efc\u5408\u75c7\u800c\u88ab\u4eba\u719f\u77e5\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">Potocki\u2010Lupski\u7efc\u5408\u75c7(PTLS)<\/a>\uff0c\u662f\u4e00\u79cd\u53d1\u80b2\u969c\u788d\u548c\u7f55\u89c1\u7684\u90bb\u63a5<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u57fa\u56e0\u7efc\u5408\u75c7<\/a>\uff0c\u6bcf2\u4e07\u4e2a\u4eba\u4e2d\u5c31\u6709\u4e00\u4e2a\u7f79\u60a3\u3002\u8fd9\u7c7b\u60a3\u8005\u7684\u4e3b\u8981\u7279\u75c7\u662f\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u3001\u5b66\u4e60\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u6ce8\u610f\u529b\u7f3a\u5931\u969c\u788d\u3001\u5a74\u513f\u808c\u5f20\u529b\u4f4e\u4e0b\u548c\u5fc3\u8840\u7ba1\u5f02\u5e38\u3002\u4ee5\u524d\u4f7f\u7528\u5fae\u9635\u5217\u7684\u7814\u7a76\uff0c\u5df2\u7ecf\u786e\u5b9a\u4e86<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u67d3\u8272\u4f5317p11.2\u7684\u91cd\u590d<\/a>\u7684\u5927\u5c0f\u548c\u8303\u56f4\u7684\u53d8\u5316\u3002\u7136\u800c\uff0c\u5c11\u6570\u57fa\u56e0\u5305\u62ecRAI1\u3001SREBF1\u3001DRG2\u3001LLGL1\u3001SHMT1\u4ee5\u53caZFP179\uff0c\u88ab\u8ba4\u4e3a\u662f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">PTLS<\/a>\u7684\u5019\u9009\u57fa\u56e0\u3002\u5728\u8fd9\u4efd\u62a5\u544a\u4e2d\uff0c\u6211\u4eec\u8c03\u67e5\u4e86\u4e00\u4f8b\u53d1\u80b2\u8fdf\u7f13\u76843\u5c81\u5973\u5b69\u3002<\/p>\n\n\n\n<p>\u5979\u7684\u67d3\u8272\u4f53\u5206\u6790\u663e\u793a\u6838\u578b\u6b63\u5e38(46,XX)\u3002 \u4f7f\u7528\u9635\u5217CGH(4X44 K\u3001Agilent USA)\u8fdb\u884c\u5206\u6790\uff0c\u53d1\u73b0\u67d3\u8272\u4f5317p11.2\u4e0a\u6709\u4e00\u4e2a\u5927\u7ea64.2 Mb\u7684\u65b0<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u3002 \u4f9d\u5176\u7ed3\u679c\uff0c\u4f7f\u7528\u4e34\u754c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">PTLS<\/a>\u9886\u57df\u7684\u63a2\u9488\u8fdb\u884c\u7684\u8367\u5149in situ\u539f\u4f4d\u6742\u4ea4(FISH)\u8bc1\u5b9e\u4e86\u8fd9\u4e9b\u7ed3\u679c\u3002<\/p>\n\n\n\n<p>\u8fd9\u4efd\u62a5\u544a\u663e\u793a\u4e86\u5fae\u9635\u5217\u548cFISH\u5728\u8bca\u65ad<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">PTLS<\/a>\u4e2d\u7684\u91cd\u8981\u6027\u3002<\/p>\n\n\n\n<p><strong>\u5173\u952e\u8bcd<\/strong>: <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">Potocki-Lupski\u7efc\u5408\u75c7<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d17p11.2<\/a>\u3001\u5fae\u5217\u9635\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u8367\u5149\u539f\u4f4d\u6742\u4ea4\u6280\u672f<\/p>\n\n\n\n    <a href=\"\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u90e8\u5206\u6b20\u5931\u91cd\u8907\u306e\u691c\u67fb <\/div>\n          <div class=\"blog-card-excerpt\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u3067\u306f\u3001\u59d4\u8a17\u3059\u308b\u6771\u4eac\u885b\u751f\u691c\u67fb\u6240\u3067\u3001\u90e8\u5206\u6b20\u5931\u30fb\u91cd\u8907\u75be\u60a3\u3082\u691c\u67fb\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u3053\u3068\u306b\u4f34\u3044\u3001\u598a\u5a20\u304c\u5224\u660e\u3057\u305f\u65e9\u671f\u6bb5\u968e\u304b\u3089\u5168\u67d3\u8272\u4f53\u306e\u90e8...<\/div>\n      <\/div>\n    <\/a>\n<\/div><\/div>\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<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BA%8F%E8%A8%80\"><\/span>\u5e8f\u8a00<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u4f5c\u4e3a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">Potocki Lupski\u7efc\u5408\u75c7(PTLS)<\/a>\u88ab\u4eba\u719f\u77e5\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u67d3\u8272\u4f5317p11.2\u91cd\u590d\u7efc\u5408\u75c7(OMIM #610883)<\/a>\uff0c\u6700\u521d\u901a\u8fc7Brown\u7b49<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/#reference01\"><sup>1<\/sup><\/a>\u6240\u8bb0\u8f7d\u7684\u3002 \u968f\u540e\uff0c\u968f\u7740\u5fae\u5217\u9635\u7b49\u9ad8\u5206\u8fa8\u7387\u7684\u65b9\u6cd5\u7684\u51fa\u73b0\uff0c\u66f4\u591a\u7684\u60a3\u8005\u88ab\u62a5\u544a\u51fa\u6765\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/#reference02\"><sup>2<\/sup><\/a><sup>, <\/sup><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/#reference03\"><sup>3<\/sup><\/a> <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">PTLS<\/a>\u533a\u57df\u7684\u5206\u5b50\u5206\u6790\u663e\u793a\uff0c\u5b83\u4e0eSmith Magenis\u7efc\u5408\u75c7\u6240<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u7684\u9886\u57df\u76f8\u540c\u3002<\/p>\n\n\n\n<p>(OMIM #182290))\uff0c\u7531\u5177\u6709\u7247\u6bb5\u5927\u5c0f\u7684\u552f\u4e00\u8fde\u63a5\u7684\u7247\u6bb5\u7ec4\u6210\u3002 \u8be5\u533a\u57df\u4e5f\u88ab\u63cf\u8ff0\u4e3a\u4f18\u5148\u6765\u6e90\u4e8e\u7236\u7cfb\uff0c\u5e76\u901a\u8fc7\u975e\u7b49\u4f4d\u57fa\u56e0\u540c\u6e90\u91cd\u7ec4(NAHR)\u673a\u5236<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/#reference04\"><sup>4<\/sup><\/a> \u4ea7\u751f\u3002\u5927\u591a\u6570\u60a3\u8005\u5728<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">17p11.2<\/a>\u5185\u6709\u4e00\u4e2a\u5e38\u89c1\u76843.7 Mb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\uff0c\u8303\u56f4\u4ece1.3\uff5e15.2 Mb\uff0c\u5176\u4f59\u7684\u6709\u975e\u590d\u53d1\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u3002 \u91cd\u8981\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">PTLS<\/a>\u9886\u57df\uff0c\u5305\u542b\u89c6\u9ec4\u9178\u8bf1\u5bfc\u60271(RAI1)\u57fa\u56e0\u4ee5\u53ca\u5176\u4ed617\u57fa\u56e0<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/#reference03\"><sup>3<\/sup><\/a> \u5728\u5185\u88ab\u786e\u5b9a\u4e3a1.3 Mb\u7684\u957f\u5ea6\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">PTLS<\/a>\u60a3\u8005\u7684\u5e38\u89c1\u8868\u578b\u662f\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u8fdb\u98df\u4e0d\u826f\u3001\u751f\u957f\u8fdf\u7f13\u3001\u5a74\u513f\u671f\u53d1\u80b2\u8fdf\u7f13\u3001\u8bed\u8a00\u969c\u788d\u3001\u5e7c\u513f\u671f\u591a\u52a8\u3001\u667a\u529b\u969c\u788d\u3001\u8f83\u5927\u513f\u7ae5\u7684\u81ea\u95ed\u75c7\u548c\u884c\u4e3a\u969c\u788d\u4ee5\u53ca\u5fc3\u8840\u7ba1\u95ee\u9898\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/#reference05\"><sup>5<\/sup><\/a><sup>, <\/sup><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/#reference06\"><sup>6<\/sup><\/a> <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u9886\u57df\u7684\u5927\u5c0f\u7684\u53d8\u52a8\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">PTLS<\/a>\u60a3\u8005\u7684\u4e34\u5e8a\u7279\u5f81\u4e2d\u53ef\u4ee5\u8bf4\u660e\u6709\u5e7f\u6cdb\u7684\u591a\u6837\u6027\u4ee5\u53ca\u91cd\u75c7\u5ea6\u3002\u5728\u672c\u7814\u7a76\u4e2d\uff0c\u4f5c\u8005\u5728\u60a3\u6709\u5168\u8eab\u6027\u53d1\u80b2\u8fdf\u7f13\u7684\u513f\u7ae5\u4e2d\u53d1\u73b0\u4e86<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5fae\u91cd\u590d17p11.2<\/a>\u3002 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u7684\u5927\u5c0f\u63a8\u5b9a\u4e3a4.2 Mb\uff0c\u8fd9\u662f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">PTLS<\/a>\u7684\u5171\u540c\u4ee5\u53ca\u4e34\u754c\u533a\u57df\u7684\u91cd\u5408\u3002<\/p>\n<\/div><\/div>\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<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E7%97%87%E6%8A%A5%E5%91%8A\"><\/span>\u75c5\u75c7\u62a5\u544a<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u60a3\u8005\u662f\u4e00\u4e2a3\u5c81\u7684\u5973\u5b69\uff0c\u662f\u4e00\u5bf9\u975e\u8fd1\u4eb2\u7ed3\u5a5a\u7684\u7b2c\u4e8c\u4e2a\u5b69\u5b50\u3002\u5979\u56e0\u591a\u52a8\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u4e2d\u67a2\u6027\u808c\u5f20\u529b\u4f4e\u4e0b\u548c\u4f53\u91cd\u589e\u957f\u7f13\u6162\u7b49\u95ee\u9898\u6765\u5230UKMMC\u7684\u513f\u7ae5\u53d1\u5c55\u4e2d\u5fc3(CDC)\u5c31\u8bca\u3002\u5728\u8db3\u6708\u65f6\u901a\u8fc7\u5256\u8179\u4ea7\u5206\u5a29\u7684\uff0c\u51fa\u751f\u4f53\u91cd\u4e3a2890\u514b\u3002\u6bcd\u4eb239\u5c81\uff0c\u5728\u6000\u5b55\u671f\u95f4\u88ab\u8bca\u65ad\u51fa\u60a3\u6709\u598a\u5a20\u671f\u7cd6\u5c3f\u75c5\u3002\u5728\u5a74\u513f\u65e9\u671f\uff0c\u60a3\u8005\u5f88\u6d3b\u8dc3\uff0c\u4f46\u5728\u6bcd\u4e73\u5582\u517b\u65f6\u5438\u542e\u7f13\u6162\u3002\u5728\u51fa\u751f\u540e\u7684\u593448\u5c0f\u65f6\u5185\uff0c\u7531\u4e8e\u4f4e\u8840\u7cd6\u75c7\u5bfc\u81f4\u7684\u547c\u5438\u6291\u5236\uff0c\u60a3\u8005\u88ab\u9001\u5165\u65b0\u751f\u513f\u91cd\u75c7\u76d1\u62a4\u5ba4\u3002\u8be5\u60a3\u8005\u88ab\u8f6c\u5230\u7269\u7406\u6cbb\u7597\u90e8\u95e8\uff0c\u5e76\u57282\u5c81\u65f6\u5f00\u59cb\u884c\u8d70\u3002\u5979\u80fd\u591f\u8dd1\u6b65\u3001\u722c\u697c\u68af\u548c\u4e00\u6b65\u4e00\u6b65\u5730\u884c\u8d70\uff0c\u4f46\u4e0d\u80fd\u4e0b\u697c\u68af\u3002\u5979\u80fd\u8bf411\u4e2a\u6709\u610f\u4e49\u7684\u5355\u8bcd\uff0c\u5e76\u80fd\u542c\u4ece\u7b80\u5355\u7684\u6307\u4ee4\u3002\u5979\u65e0\u6cd5\u81ea\u5df1\u5403\u996d\uff0c\u6bcf\u5929\u90fd\u6709\u9057\u5c3f\u591c\u5c3f\u3002\u542c\u529b\u548c\u773c\u775b\u7684\u8bc4\u4f30\u90fd\u5f88\u6b63\u5e38\u3002<\/p>\n\n\n\n<p>\u672c\u75c5\u4f8b\u62a5\u544a\u83b7\u5f97\u4e86\u5bb6\u957f\u7684\u77e5\u60c5\u540c\u610f\u3002\u7814\u7a76\u65b9\u6848\u548c\u77e5\u60c5\u540c\u610f\u4e66\u90fd\u5f97\u5230\u4e86University Kebangsaan Malaysia Research Committee Board\u7684\u6279\u51c6\u3002\u9057\u4f20\u5b66\u53d1\u73b0\uff0c\u4ece\u60a3\u8005\u8840\u6837\u4e2d\u5236\u5907\u8840\u6db2\u6dcb\u5df4\u7ec6\u80de\u57f9\u517b\u7269\u3002\u5bf920\u4e2a\u4e2d\u80da\u80ce\u7684Giemsa\u5e26\u72b6\u67d3\u8272\u4f53\u8fdb\u884c\u4e86\u5206\u6790\uff0c\u534a\u6570\u4f53(bph)\u5206\u8fa8\u7387\u4e3a550\u5e26\uff0c\u663e\u793a\u51fa\u6b63\u5e38\u7684\u96cc\u6027\u6838\u578b(<strong>\u56fe1<\/strong>)\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"700\" height=\"512\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/17p11.2-a.png\" alt=\"\" class=\"wp-image-18388\"\/><figcaption class=\"wp-element-caption\"><strong>\u56fe1<\/strong>: \u663e\u793a46,XX\u60a3\u8005\u7684G\u5e26\u72b6\u6838\u578b<\/figcaption><\/figure><\/div>\n\n\n<p>\u57fa\u56e0\u7ec4DNA\uff0c\u4f7f\u7528DNeasy Blood &amp; Tissue\u5242\u76d2\uff0c\u6839\u636e\u5236\u9020\u5546\u63a8\u8350\u7684\u987a\u5e8f(\u5fb7\u56fd\u3001Qiagen)\u4ece\u60a3\u8005\u8840\u6db2\u6837\u672c\u4e2d\u63d0\u53d6\u3002\u4f7f\u7528\u4e86\u4f5c\u4e3a\u6807\u51c6\u6837\u54c1\u7684\u666e\u901a\u5e02\u552e\u7684\u96ccgDNA(Agilents Technologies, USA)\u3002DNA\u7684\u8d28\u91cf\u548c\u6570\u91cf\uff0c\u4f7f\u75281.0%\u743c\u8102\u7cd6\u51dd\u80f6\u7535\u6cf3\u548cNanoDrop UVVIS\u5206\u5149\u5149\u5ea6\u8ba1(Nanodrop Tech)\u6765\u8fdb\u884c\u8bc4\u4ef7\u3002 \u5206\u522b\u6839\u636e\uff0c\u7f8e\u56fd Agilent\u2019s Direct Method of Oligo Array CGH\u5de5\u4f5c\u6d41\u7a0b(Agilent Technologies, USA)\u3001Agilent Human Genome 4x44K\u5be1\u6838\u82f7\u9178\u9635\u5217\u73bb\u7247\u4e0a\u8fdb\u884c\u9635\u5217CGH\u3002\u5fae\u9635\u5217\u5206\u6790\u7684\u7ed3\u679c\uff0c\u68c0\u6d4b\u51fa\u4e86<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u67d3\u8272\u4f5317p11.2<\/a>\u4e0a\u7ea64.2 Mb\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>(<strong>\u56fe2<\/strong>)\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u7684\u5f00\u59cb\u70b9\u4ee5\u53ca\u505c\u6b62\u70b9\uff0c\u5206\u522b\u63a8\u65ad\u4e3a16,782,546\u4ee5\u53ca21,050,337 kb\u3002\u8fd9\u4e00\u9886\u57df\u5305\u542b\u6709\u91cd\u8981\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">PTLS<\/a>\u9886\u57df\u7684\u57fa\u56e0\u5728\u5185\u7684122\u4e2aRefSeq\u57fa\u56e0\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"700\" height=\"508\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/17p11.2-b.png\" alt=\"\" class=\"wp-image-18390\"\/><figcaption class=\"wp-element-caption\"><strong>\u56fe2:<\/strong>(A)\u5fae\u9635\u5217CGH\u5206\u6790\u3001\u786e\u5b9a\u4e86\u5927\u5c0f4.2 Mb(16,782,546-21,050,337 kb)\u7684\u67d3\u8272\u4f5317p11.2\u7684\u91cd\u590d\u3002 (B) TNFRSF13B\u5230C17orf35B\u5305\u542b122\u4ee5\u4e0a\u7684\u9057\u4f20\u5b50\uff0cPTLS\u76843.7 Mb\u516c\u5171\u91cd\u590d\u533a\u57df\u4e0e1.3 Mb\u4e34\u754cPTLS\u9886\u57df\u53d1\u751f\u91cd\u5408\u91cd\u590d\u9886\u57df(\u9ec4\u8272\u7684\u6c34\u5e73\u7ebf)\u7684\u8303\u56f4\u6a21\u5f0f\u56fe<\/figcaption><\/figure><\/div>\n\n\n<p>\u8003\u8651\u5230\u4ee5\u524d\u7684\u62a5\u544a\u548c\u57fa\u56e0\u7ec4\u53d8\u5f02\u6570\u636e\u5e93(http:\/\/dgv.tcag.ca\/gb2\/gbrowse\/dgv2_hg19\/)\u7684\u5185\u5bb9\uff0c\u8fd9\u79cd<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u4f3c\u4e4e\u662f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">Potocki-Lupsky \u7efc\u5408\u75c7\u91cd\u590d<\/a>\u7684\u7279\u5f81\uff0c\u5305\u542b\u7528\u91cf\u611f\u53d7\u6027RAI1\u57fa\u56e0)\u3001\u4ee5\u53ca\u4e3a\u4e86\u786e\u8ba4\u5fae\u9635\u5217\u7ed3\u679c\uff0c\u4f7f\u7528\u7279\u5f02\u6027\u63a2\u9488Agilent SureFISH 17p11.2 GLL1-SHMT1(\u5149\u8c31\u7ea2\u8272)\u3001Agilent SureFISH 17p11.2 RAI1(\u5149\u8c31\u7eff\u8272)\u4ee5\u53ca\u5bf9\u7167Agilent SureFISH 17 CEP BL(\u5149\u8c31\u6c34\u8272)\u4f7f\u7528\u7684FISH\u3002150\u4e2a\u88ab\u5206\u6790\u7684\u7ec6\u80de\u6838\u7684\u6742\u4ea4\u7ed3\u679c\u663e\u793a\u5728RAI1\u548cSHMT1\u4f4d\u70b9\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u7684\u8bc1\u636e\uff0c\u8bc1\u5b9e\u4e86\u5fae\u9635\u5217\u7684\u53d1\u73b0\u3002<\/p>\n\n\n\n<p>\u7236\u6bcd\u53cc\u65b9\u90fd\u6709\u6b63\u5e38\u7684\u6838\u578b(\u6570\u636e\u672a\u663e\u793a)\u4e0e\u6b63\u5e38\u7684FISH\u4fe1\u53f7\u6a21\u5f0f\uff0c\u5373\u7ea2\u82722\u4e2a\u3001\u7eff\u82722\u4e2a\u3001\u6c34\u82722\u4e2a(<strong>\u56fe3<\/strong>)\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"586\" height=\"598\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/17p11.2-c.jpg\" alt=\"\" class=\"wp-image-18392\"\/><figcaption class=\"wp-element-caption\"><strong>\u56fe3<\/strong> :RAI1(\u7eff)\u3001SHMT1(\u7ea2)\u53ca\u5bf9\u7167\u4e2d\u5fc3\u7c92\u63a2\u9488\u67d3\u8272\u4f5317(\u6c34\u8272)\u4f7f\u7528\u7279\u5f02\u768417p11.2\u63a2\u9488\u671f\u95f4\u7ec6\u80de\u4e0a\u7684FISH\u3002 \u663e\u793aA\u548cB:RAI1\u4ee5\u53caSHMT1\u7684\u590d\u5236\u60a3\u8005\u95f4\u671f\u7ec6\u80de\u4e0a\u7684\u6742\u4ea4\u5f62\u6001;C\u548cD:\u4eb2\u4eba\u7684\u95f4\u671f\u7ec6\u80de\u4e0a\u7684\u6b63\u5e38\u7684\u6742\u4ea4\u5f62\u6001\uff0c\u663e\u793a\u4e862\u4e2a\u6b63\u5e38\u7684\u63a2\u9488\u526f\u672c(2\u4e2a\u7eff\u8272\u53ca2\u4e2a\u7ea2\u8272\u4fe1\u53f7)\u3002 NI\u6b63\u5e38\u3001\u91cd\u590d\u3001\u91cd\u590d<\/figcaption><\/figure><\/div><\/div><\/div>\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<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%AE%A8%E8%AE%BA\"><\/span>\u8ba8\u8bba<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u9635\u5217CGH\uff0c\u80fd\u4ee5\u9ad8\u5206\u8fa8\u7387(\u22661 Mb)\uff0c\u8bc6\u522b\u6240\u6709\u57fa\u56e0\u7ec4\u7684\u62f7\u8d1d\u6570\u53d8\u5f02(\u589e\u5e45\u6216\u662f\u7f3a\u5931)\u548c\u5168\u67d3\u8272\u4f53\u53ca\u4eba\u7c7b\u57fa\u56e0\u7ec4\u5355\u62f7\u8d1d\u7684\u589e\u51cf\uff0c\u4ece\u800c\u83b7\u5f97\u4e0e\u4eba\u7c7b\u57fa\u56e0\u7ec4\u7684\u7269\u7406\u548c\u9057\u4f20\u56fe\u8c31\u6709\u5173\u7684\u7cbe\u786e\u4f4d\u7f6e\u4fe1\u606f\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/#reference07\"><sup>7<\/sup><\/a> \u8fd9\u9879\u6280\u672f\u53d8\u5f97\u66f4\u5177\u6210\u672c\u6548\u76ca\uff0c\u548c\u8d1f\u62c5\u5f97\u8d77\uff0c\u5305\u62ec\u4e2d\u7b49\u6536\u5165\u56fd\u5bb6\u5728\u5185\u7684\u8bb8\u591a\u7814\u7a76\u6240\uff0c\u5df2\u5f00\u59cb\u5c06\u5176\u7528\u4f5c\u5b66\u4e60\u969c\u788d\u60a3\u8005\u7684\u7b2c\u4e00\u79cd\u9009\u62e9\u8bca\u65ad\u68c0\u67e5\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/#reference08\"><sup>8<\/sup><\/a> \u4f46\u662f\uff0c\u503c\u5f97\u6ce8\u610f\u7684\u662f\uff0c\u8fd9\u79cd\u6280\u672f\u65e0\u6cd5\u8bc6\u522b\u5e73\u8861\u6613\u4f4d\uff0c\u56e0\u6b64\uff0c\u5bf9\u5b66\u4e60\u969c\u788d\u548c\u5148\u5929\u6027\u5f02\u5e38\u60a3\u8005\u7684\u7814\u7a76\u5fc5\u987b\u59cb\u7ec8\u5305\u62ec\u5e38\u89c4\u6838\u578b\u5206\u6790\u3002<\/p>\n\n\n\n<p>\u56fd\u9645\u6807\u51c6\u5316\u7ec6\u80de\u57fa\u56e0\u7ec4\u9635\u5217(ISCA)\u8054\u76df\u8fdb\u884c\u7684\u7814\u7a76\u63d0\u4f9b\u7684\u7814\u7a76\u8bc1\u636e\u4e3a\u53d1\u80b2\u8fdf\u7f13\/\u667a\u529b\u969c\u788d\u3001\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u548c\u591a\u79cd\u5148\u5929\u6027\u5f02\u5e38\u60a3\u8005\u63d0\u4f9b\u7b2c\u4e00\u9636\u6bb5\u7684\u7ec6\u80de\u9057\u4f20\u5b66\u8bca\u65ad\uff0c\u5e94\u7528\u4e8e\u67d3\u8272\u4f53\u5fae\u9635\u5217\u3002\u8fd9\u4e3b\u8981\u662f\u56e0\u4e3a\u5b83\u6bd4\u4f20\u7edf\u7684G\u6ce2\u6bb5\u5206\u6790\u5177\u6709\u66f4\u9ad8\u7684\u7075\u654f\u5ea6\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/#reference09\"><sup>9<\/sup><\/a> \u6b64\u5916\uff0c\u5bf9\u6709\u5b66\u4e60\u969c\u788d(\u667a\u529b\u4f4e\u4e0b)\u548c\u5148\u5929\u6027\u5f02\u5e38\u7684\u53d7\u8bd5\u800513,926\u4eba\u8fdb\u884c\u7684\u5927\u578b\u7cfb\u7edf\u56de\u987e\u8bc1\u5b9e\uff0c\u5f97\u5230\u4e86\u82af\u7247CGH\u5728\u8fd9\u4e9b\u6838\u578b\u5206\u6790\u6b63\u5e38\u7684\u60a3\u8005\u7684\u7814\u7a76\u4e2d\u5e38\u89c4\u4f7f\u7528\u7684\u8bc1\u660e\u3002\u4f46\u662f\uff0c\u8fd9\u9879\u7814\u7a76\u8fd8\u8868\u660e\uff0c\u5e94\u8c28\u614e\u89e3\u91ca\u7ed3\u679c\u3002\u8fd9\u662f\u56e0\u4e3a\u8be5\u6280\u672f\u8fd8\u80fd\u4ee5\u4e0e\u56e0\u679c\u53d8\u4f53\u76f8\u540c\u7684\u6bd4\u7387\u8bc6\u522b\u51fa\u5047\u9633\u6027\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/#reference08\"><sup>8<\/sup><\/a><\/p>\n\n\n\n<p>\u4f7f\u7528\u5fae\u9635\u5217\u548cFISH\u9a8c\u8bc1\uff0c\u4f5c\u8005\u7b49\u5728\u4e0e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">PTLS<\/a>\u76f8\u5173\u7684\u60a3\u8005\u4e2d\u53d1\u73b0\u4e86\u5927\u7ea64.2 Mb\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d17p11.2<\/a>\u3002\u5728\u6211\u4eec\u7684\u60a3\u8005\u4e2d\u8bc6\u522b\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u9886\u57df\uff0c\u4e0e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">PTLS<\/a>\u76843.4 Mb\u516c\u5171\u533a\u57df\u548c1.3 Mb\u5173\u952e\u533a\u57df<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>(\u56fe2)\u3002\u9664\u4e86<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">PTLS<\/a>\u7684\u5e38\u89c1\u8868\u578b\u5916\uff0c\u4f5c\u8005\u7684\u60a3\u8005\u8fd8\u88ab\u6307\u51fa\u6709\u65b0\u751f\u513f\u4f4e\u8840\u7cd6\u75c7\u3002 \u4f17\u6240\u5468\u77e5\uff0c\u60a3\u6709\u7cd6\u5c3f\u75c5(<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gestational-diabetes-food\/\">\u598a\u5a20\u7cd6\u5c3f\u75c5<\/a>\u3001\u598a\u5a20\u524d\u7cd6\u5c3f\u75c5)\u7684\u5973\u6027\u751f\u80b2\u4f4e\u8840\u7cd6\u513f\u7ae5\u7684\u98ce\u9669\u589e\u52a0\u3002\u56e0\u6b64\uff0c\u4f5c\u8005\u7684\u60a3\u8005\u4e2d\u7684\u65b0\u751f\u513f\u4f4e\u8840\u7cd6\u75c7\u5f88\u53ef\u80fd\u662f\u7531\u4e8e\u6bcd\u4f53\u7684\u598a\u5a20\u671f\u7cd6\u5c3f\u75c5\u800c\u4e0d\u662f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u598a\u5a20\u7684\u5f71\u54cd\u3002\u5bf9\u7236\u6bcd\u7684\u8840\u6837\u8fdb\u884c\u7684FISH\u5206\u6790\u548c\u6838\u578b\u5206\u6790\u663e\u793a\u7ed3\u679c\u6b63\u5e38\uff0c\u8868\u660e\u8be5\u60a3\u8005\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">PTLS<\/a>\u662f\u4f5c\u4e3a\u4e00\u4e2ade novo\u4e8b\u4ef6\u53d1\u751f\u7684\u3002<\/p>\n\n\n\n<p>\u867d\u7136\u5927\u591a\u6570\u62a5\u544a\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">PTLS\u75c5\u4f8b<\/a>\u662fde novo\u7684\uff0c\u4f46\u8fc4\u4eca\u5df2\u6709\u4e24\u4efd\u5173\u4e8e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u9057\u4f20\u6027PTLS<\/a>\u7684\u62a5\u544a(\u4e09\u4e2a\u5bb6\u65cf)\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/#reference10\"><sup>10<\/sup><\/a><sup>, <\/sup><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/#reference11\"><sup>11<\/sup><\/a> \u6700\u8fd1\uff0cLee\u7b49\u4eba<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/#reference12\"><sup>12<\/sup><\/a> \uff0c\u5728\u4e00\u4e2a\u5177\u6709\u7ec6\u5fae\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">PTLS<\/a>\u8868\u578b\u7684\u7537\u5b69\u8eab\u4e0a\u53d1\u73b0\u4e86\u6700\u77ed\u76840.25 Mb(17,575,978-17,824,623)<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d17p11.2<\/a>\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u9886\u57df\u91cd\u8981\u7684PTLS\u9886\u57df\u5185\uff0c\u5305\u542bRAI1\u3001SMCR5\u3001SREBF1\u53caTOM1L2\u76844\u4e2a\u57fa\u56e0\u3002\u4e0e\u4ee5\u524d\u7684\u62a5\u544a\u4e00\u81f4\uff0c\u4ed6\u4eec\u8ba4\u4e3aRAI1\u662f\u53c2\u4e0e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">PTLS<\/a>\u8868\u578b\u4e3b\u8981\u4e34\u5e8a\u7279\u75c7\u7684\u91cd\u8981\u5242\u91cf\u654f\u611f\u57fa\u56e0\uff0c\u800cSREBF1\u662f\u53e6\u4e00\u4e2a\u6f5c\u5728\u7684\u5019\u9009\u57fa\u56e0\u3002\u7136\u800c\uff0c\u76ee\u524d\u4ecd\u4e0d\u6e05\u695a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">PTLS<\/a>\u662f\u5426\u4ec5\u7531RAI1\u6216SREBF1\u57fa\u56e0\u5ea7\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u91cd\u590d<\/a>\u5f15\u8d77\u3002\u5bf9\u5c0f\u9f20\u6a21\u578b\u7684\u7814\u7a76\u4e5f\u63d0\u4f9b\u4e86\u8bc1\u636e\uff0c\u8bc1\u660eRai1\u662f\u53c2\u4e0e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">PTLS<\/a>\u8868\u578b\u7684\u4e00\u4e2a\u91cd\u8981\u548c\u5242\u91cf\u654f\u611f\u7684\u57fa\u56e0\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/#reference13\"><sup>13<\/sup><\/a><sup>, <\/sup><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/#reference14\"><sup>14<\/sup><\/a><\/p>\n\n\n\n<p>\u603b\u4e4b\uff0c\u4f5c\u8005\u7684\u7814\u7a76\u7ed3\u679c\u8bc1\u660e\u4e86\u9635\u5217CGH\u548c\u95f4\u671fFISH\u5728\u8bc6\u522b\u548c\u786e\u8ba4<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">17p11.2\u91cd\u590d(PTLS)<\/a>\u65b9\u9762\u7684\u91cd\u8981\u6027\uff0c\u5982\u679c\u53ea\u5206\u6790\u5e38\u89c4\u7684Giemsa\u5e26\uff08G\u5e26\uff09\u67d3\u8272\u4f53\uff0c\u8fd9\u4e9b\u590d\u5236\u4f1a\u88ab\u9057\u6f0f\u3002\u5728\u6bcf\u5355\u500d\u4f53\u5206\u8fa8\u7387(bph)550\u6761\u5e26\u5b50\u7684\u60c5\u51b5\u4e0b\uff0c\u53ef\u4ee5\u68c0\u6d4b\u5230\u542b\u67095 Mb\u6216\u66f4\u591a\u7684\u7f3a\u5931\u6216\u589e\u52a0\u7684\u67d3\u8272\u4f53\u53d8\u5f02\uff0c\u4f46\u5bf9\u4e8e\u8f83\u5c0f\u7684\u7578\u53d8(&lt;5 Mb)\u9700\u8981\u66f4\u9ad8\u7684\u5e26\u5b50\u5206\u8fa8\u7387\uff0c\u6216\u8005\u91c7\u7528\u66f4\u4e13\u4e1a\u7684\u6280\u672f\uff0c\u5982FISH\u3001\u9635\u5217CGH\u3001\u6d4b\u5e8f\u6216NGS\u3002\u8fd9\u53ef\u80fd\u662f\u9610\u660e\u8fd9\u79cd\u67d3\u8272\u4f53\u91cd\u6392\u7684\u6700\u4f73\u65b9\u6cd5\u3002<\/p>\n<\/div><\/div>\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<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%B8%A3%E8%B0%A2\"><\/span>\u9e23\u8c22<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6211\u4eec\u8981\u611f\u8c22\u53c2\u4e0e\u8fd9\u9879\u7814\u7a76\u7684\u60a3\u8005\u548c\u5bb6\u957f\u3002\u6211\u4eec\u8fd8\u8981\u611f\u8c22UKMMC\u75c5\u7406\u90e8\u7ec6\u80de\u9057\u4f20\u5b66\u7ec4\u7684\u5de5\u4f5c\u4eba\u5458\uff0c\u611f\u8c22\u4ed6\u4eec\u7684\u6280\u672f\u6001\u5ea6\u548c\u652f\u6301\u3002\u672c\u7814\u7a76\uff0c\u9488\u5bf9UKM-GUP-2011-320\u4ee5\u53caFF-2013-329\u3002\u7531\u9a6c\u6765\u897f\u4e9a\u56fd\u6c11\u5927\u5b66\u8d44\u52a9\u3002<\/p>\n\n\n\n<p>\u4f5c\u8005\u58f0\u660e\uff0c\u6ca1\u6709\u5229\u76ca\u51b2\u7a81\u3002<\/p>\n<\/div><\/div>\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<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\"><\/span>\u53c2\u8003\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Brown A, Phelan MC, Patil S, Crawford E, Rogers RC, Schwartz C. 17p11.2\u91cd\u590d\u60a3\u80052\u4f8b: Smith-Magenis\u7efc\u5408\u75c7\u7f3a\u5931\u7684\u53cd\u9762? Am J Med Genet. 1996; 63: 373-7.<\/li>\n\n\n\n<li>Potocki L, Chen KS, Park SS, et al. \u91cd\u590d\u7684\u5206\u5b50\u673a\u678417p11.2-Smith-Magenis\u5fae\u5c0f\u7f3a\u5931\u7684\u540c\u6e90\u91cd\u7ec4\u4e92\u4f5c\u3002 Nat Genet 2000; 24: 84-7.<\/li>\n\n\n\n<li>Potocki L, Bi W, Treadwell-Deering D, et al. Potocki-Lupski\u7efc\u5408\u75c7(dup(17)(p11.2p11.2))\u63cf\u8ff0\u4e86\u53ef\u4ee5\u4f20\u8fbe\u81ea\u95ed\u75c7\u8868\u578b\u7684\u5242\u91cf\u654f\u611f\u4e34\u754c\u533a\u95f4\u3002 Am J Hum Genet. 2007; 80: 633-49.<\/li>\n\n\n\n<li>Zhang F, Potocki L, Sampson JB, et al. \u4e2d\u7f55\u89c1\u7684\u590d\u53d1\u6027Potocki-Lupski\u7efc\u5408\u75c7\u76f8\u5173\u91cd\u590d\u7684\u9274\u5b9a\u548c\u91cd\u6392\u7c7b\u578b\u548c\u673a\u5236\u7684\u5206\u5e03\u3002 Am J Hum Genet. 2010; 86: 462-70.<\/li>\n\n\n\n<li>Soler-Alfonso C, Motil KJ, Turk CL, et al. PotockiLupski\u7efc\u5408\u75c7:\u4e00\u79cd\u4e0e\u53e3\u54bd\u75be\u75c5\u548c\u751f\u957f\u969c\u788d\u76f8\u5173\u7684\u5fae\u91cd\u590d\u7efc\u5408\u75c7\u3002 J Pediatr. 2011; 158: 655-9.<\/li>\n\n\n\n<li>Jefferies JL, Pignatelli RH, Martinez HR, et al. \u91cd\u590d17p11.2\u7efc\u5408\u75c7\u7684\u5fc3\u8840\u7ba1\u53d1\u73b0\u3002 Genet Med. 2012; 14: 90-4.<\/li>\n\n\n\n<li>Cheung SW, Shaw CA, Yu W, et al. \u7528\u4e8e\u4e34\u5e8a\u7ec6\u80de\u9057\u4f20\u5b66\u8bca\u65ad\u7684CGH\u5fae\u9635\u5217\u7684\u5f00\u53d1\u548c\u9a8c\u8bc1\u3002 Genet Med. 2005; 7: 422\u2013 32.<\/li>\n\n\n\n<li>Sagoo GS, Butterworth AS, Sanderson S, ShawSmith C, Higgins JP, Burton H. Array CGH in \u5728\u5b66\u4e60\u969c\u788d(\u667a\u529b\u8fdf\u949d)\u548c\u5148\u5929\u7f3a\u9677\u60a3\u8005\u4e2d\u7684\u5e94\u7528: \u5bf919\u9879\u7814\u7a76\u548c13,926\u4f8b\u7814\u7a76\u7684\u6700\u65b0\u7cfb\u7edf\u8bc4\u4ef7\u548c\u835f\u8403\u5206\u6790\u6848\u4f8b\u3002 Genet Med. 2009; 11:139-46.<\/li>\n\n\n\n<li>Miller DT, Adam MP, Aradhya S, et al. \u5171\u8bc6\u58f0\u660e:\u67d3\u8272\u4f53\u5fae\u9635\u5217\u662f\u9488\u5bf9\u60a3\u6709\u53d1\u80b2\u969c\u788d\u6216\u5148\u5929\u7f3a\u9677\u7684\u4e2a\u4f53\u7684\u4e00\u7ebf\u4e34\u5e8a\u8bca\u65ad\u6d4b\u8bd5\u3002 Am J Hum Genet. 2010; 86: 749\u201364.<\/li>\n\n\n\n<li>Yusupov R, Roberts AE, Lacro RV, Sandstrom M, Ligon AH. Potocki-Lupski\u7efc\u5408\u75c7\uff1a\u5de6\u5fc3\u53d1\u80b2\u4e0d\u5168\u7684\u9057\u4f20\u6027\u91cd\u590d(17)(p11.2p11.2)\u3002 Am J Med Genet A. 2011; 155A: 367-71.<\/li>\n\n\n\n<li>Magoulas PL, Liu P, Gelowani V, et al. \u9057\u4f20\u6027dup(17)(p11.2p11.2):Potocki-Lupski\u7efc\u5408\u75c7\u7684\u8868\u73b0\u578b\u7684\u6269\u5927\u3002 Am J Med Genet A. 2014; 164A: 500-4.<\/li>\n\n\n\n<li>Lee CG, Park SJ, Yim SY, Sohn YB. RAI1\u5728\u5305\u62ec17p11.2\u7684\u6700\u77ed\u76840.25 Mb\u7684\u5fae\u91cd\u590d\u7684Potocki-Lupski\u7efc\u5408\u75c7\u7684\u4e34\u5e8a\u548c\u7ec6\u80de\u9057\u4f20\u5b66\u7279\u75c7\u3002 \u8111\u90e8 2013; 35: 681-5.<\/li>\n\n\n\n<li>Walz K, Paylor R, Yan J, Bi W, Lupski JR. Rai1\u7684\u91cd\u590d\uff0cdup(17)\u5c0f\u9f20\u6a21\u578b\u7684\u7269\u7406\u548c\u884c\u4e3a\u8868\u578b\u5f15\u8d77\u7684(p11.2p11.2)\u3002 J Clin Invest. 2006; 116: 3035-41.<\/li>\n\n\n\n<li>Carmona-Mora P, Walz K. Retinoic Acid Induced 1, RAI1: \u4e0e\u795e\u7ecf\u884c\u4e3a\u53d8\u5316\u5305\u62ec\u81ea\u95ed\u75c7\u884c\u4e3a\u6709\u5173\u7684\u5242\u91cf\u654f\u611f\u57fa\u56e0\u3002 Cargenomics 2010; 11: 607-17.<\/li>\n<\/ol>\n\n\n\n<p>\u8054\u7edc: Dr. Salwati Shuib, Cytogenetic Unit, Department of Pathology, Jalan Yaacob Latif, Bandar Tun Razak, Universiti Kebangsaan Malaysia Medical Centre (UKMMC), Cheras 56000 Kuala Lumpur, Malaysia\u3002 \u7535\u8bdd\u53f7\u7801: 603-91459511\u3001FAX\u53f7\u7801: 603-91459485 \u90ae\u7bb1: salwati@ ppukm.ukm.edu.my<\/p>\n<\/div><\/div>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"Salwati SHUIB PhD, N&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":898,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[251],"tags":[326,327,332],"class_list":["post-47856","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-treatise-zh-hans","tag-326","tag-327","tag-332"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/47856","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=47856"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/47856\/revisions"}],"predecessor-version":[{"id":74065,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/47856\/revisions\/74065"}],"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=47856"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=47856"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=47856"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}