{"id":18384,"date":"2021-10-19T16:11:26","date_gmt":"2021-10-19T07:11:26","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=18384"},"modified":"2025-07-24T16:39:23","modified_gmt":"2025-07-24T07:39:23","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\/","title":{"rendered":"\u767a\u9054\u9045\u6ede\u306e\u3042\u308b\u5c0f\u5150\u306b\u304a\u3051\u308b\u91cd\u890717p11.2(\u30dd\u30c8\u30c3\u30ad\u30fb\u30eb\u30d7\u30b9\u30ad\u30fc\u75c7\u5019\u7fa4)"},"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>\u30de\u30ec\u30fc\u30b7\u30a2\u56fd\u6c11\u5927\u5b66\u533b\u7642\u30bb\u30f3\u30bf\u30fc\u75c5\u7406\u5b66\u90e8\u9580\u3001<sup>*<\/sup>\u533b\u7642\u7814\u7a76\u6240\u304c\u3093\u7814\u7a76\u30bb\u30f3\u30bf\u30fc\u8840\u6db2\u5b66\u30e6\u30cb\u30c3\u30c8\u3001<sup>**<\/sup>\u30de\u30ec\u30fc\u30b7\u30a2\u56fd\u6c11\u5927\u5b66\u533b\u7642\u30bb\u30f3\u30bf\u30fc\u5c0f\u5150\u79d1\u3001\u30af\u30a2\u30e9\u30eb\u30f3\u30d7\u30fc\u30eb\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_82_2 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/#%E8%A6%81%E7%B4%84\" >\u8981\u7d04<\/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\/#%E3%81%AF%E3%81%98%E3%82%81%E3%81%AB\" >\u306f\u3058\u3081\u306b<\/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\/#%E7%97%87%E4%BE%8B%E5%A0%B1%E5%91%8A\" >\u75c7\u4f8b\u5831\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\/#%E8%80%83%E5%AF%9F\" >\u8003\u5bdf<\/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\/#%E8%AC%9D%E8%BE%9E\" >\u8b1d\u8f9e<\/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\/#%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%B4%84\"><\/span>\u8981\u7d04<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u890717p11.2\u75c7\u5019\u7fa4<\/a>\u3001\u30c8\u30ea\u30bd\u30df\u30fc17p11.2\u307e\u305f\u306fdup(17)(p11.2p11.2)\u75c7\u5019\u7fa4\u3068\u3057\u3066\u3082\u77e5\u3089\u308c\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">Potocki\u2010Lupski\u75c7\u5019\u7fa4(PTLS)<\/a>\u306f\u3001\u767a\u9054\u969c\u5bb3\u304a\u3088\u3073\u307e\u308c\u306a\u96a3\u63a5<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4<\/a>\u3067\u3042\u308a\u3001\u51fa\u751f20,000\u4eba\u306b1\u4eba\u304c\u7f79\u60a3\u3059\u308b\u3002 \u3053\u306e\u3088\u3046\u306a\u60a3\u8005\u306e\u4e3b\u306a\u7279\u5fb4\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/learning-disabilities-genetics-support\/\">\u5b66\u7fd2\u969c\u5bb3<\/a>\u3001\u767a\u9054\u9045\u5ef6\u3001\u6ce8\u610f\u6b20\u9665\u969c\u5bb3\u3001\u4e73\u5150\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u304a\u3088\u3073\u5fc3\u8840\u7ba1\u7570\u5e38\u3067\u3042\u308b\u3002 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u3092\u7528\u3044\u305f\u4ee5\u524d\u306e\u7814\u7a76\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u67d3\u8272\u4f5317p11.2\u306e\u91cd\u8907<\/a>\u9818\u57df\u306e\u5927\u304d\u3055\u304a\u3088\u3073\u7bc4\u56f2\u306e\u5909\u7570\u304c\u540c\u5b9a\u3055\u308c\u305f\u3002 \u3057\u304b\u3057\u306a\u304c\u3089\u3001RAI1\u3001SREBF1\u3001DRG2\u3001LLGL1\u3001SHMT1\u304a\u3088\u3073ZFP179\u3092\u542b\u3080\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">PTLS<\/a>\u306e\u5019\u88dc\u3068\u8003\u3048\u3089\u308c\u308b\u5c11\u6570\u306e\u907a\u4f1d\u5b50\u304c\u3042\u308b\u3002 \u672c\u5831\u544a\u3067\u306f\u3001\u767a\u9054\u9045\u5ef6\u3092\u6709\u3059\u308b3\u6b73\u5973\u5150\u306e\u75c7\u4f8b\u3092\u8abf\u67fb\u3057\u305f\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<p>\u5f7c\u5973\u306e\u67d3\u8272\u4f53\u5206\u6790\u306f\u6b63\u5e38\u306a\u6838\u578b(46,XX)\u3092\u793a\u3057\u305f\u3002 \u30a2\u30ec\u30a4CGH(4X44 K\u3001Agilent USA)\u3092\u7528\u3044\u305f\u89e3\u6790\u306b\u3088\u308a\u3001\u67d3\u8272\u4f5317p11.2\u306b\u304a\u3051\u308b\u7d044.2 Mb\u306e\u65b0\u898f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u304c\u540c\u5b9a\u3055\u308c\u305f\u3002 \u305d\u306e\u7d50\u679c\u306f\u3001\u81e8\u754c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">PTLS<\/a>\u9818\u57df\u306e\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u305f\u86cd\u5149in situ\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3(FISH)\u306b\u3088\u3063\u3066\u78ba\u8a8d\u3055\u308c\u305f\u3002<\/p>\n\n\n\n<p>\u672c\u5831\u544a\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">PTLS<\/a>\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u3068FISH\u306e\u91cd\u8981\u6027\u3092\u793a\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30ad\u30fc\u30ef\u30fc\u30c9<\/strong>: <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">Potocki-Lupski\u75c7\u5019\u7fa4<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u890717p11.2<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u3001\u767a\u751f\u9045\u5ef6\u3001\u86cd\u5149in situ\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3<\/p>\n\n\n\n    <a href=\"\/nipt\/nipt\/partialdeletions\/\" 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=\"%E3%81%AF%E3%81%98%E3%82%81%E3%81%AB\"><\/span>\u306f\u3058\u3081\u306b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">Potocki Lupski\u75c7\u5019\u7fa4(PTLS)<\/a>\u3068\u3057\u3066\u3082\u77e5\u3089\u308c\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u67d3\u8272\u4f5317p11.2\u91cd\u8907\u75c7\u5019\u7fa4(OMIM #610883)<\/a>\u306f\u3001Brown\u3089<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/#reference01\"><sup>1<\/sup><\/a>\u306b\u3088\u3063\u3066\u521d\u3081\u3066\u8a18\u8f09\u3055\u308c\u305f\u3002 \u305d\u306e\u5f8c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u306e\u3088\u3046\u306a\u9ad8\u5206\u89e3\u80fd\u6cd5\u306e\u51fa\u73fe\u306b\u3088\u308a\u3001\u3088\u308a\u591a\u304f\u306e\u60a3\u8005\u304c\u5831\u544a\u3055\u308c\u305f\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\/\">PTLS<\/a>\u9818\u57df\u306e\u5206\u5b50\u89e3\u6790\u306f\u3001\u305d\u308c\u304cSmith Magenis\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3055\u308c\u305f\u540c\u3058\u9818\u57df\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u305f\u3002<\/p>\n\n\n\n<p>(OMIM #182290)\u306f\u3001\u898b\u304b\u3051\u306e\u30d5\u30e9\u30b0\u30e1\u30f3\u30c8\u30b5\u30a4\u30ba\u3092\u6709\u3059\u308b\u30e6\u30cb\u30fc\u30af\u306a\u63a5\u5408\u30d5\u30e9\u30b0\u30e1\u30f3\u30c8\u304b\u3089\u306a\u308b\u3002 \u3053\u306e\u9818\u57df\u306f\u307e\u305f\u3001\u8d77\u6e90\u304c\u512a\u5148\u7684\u306b\u7236\u7cfb\u3067\u3042\u308a\u3001\u975e\u5bfe\u7acb\u907a\u4f1d\u5b50\u76f8\u540c\u7d44\u63db\u3048(NAHR)\u6a5f\u69cb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/#reference04\"><sup>4<\/sup><\/a> \u306b\u3088\u3063\u3066\u751f\u3058\u308b\u3068\u8a18\u8ff0\u3055\u308c\u305f\u3002 \u60a3\u8005\u306e\u5927\u591a\u6570\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">17p11.2<\/a>\u306e\u7bc4\u56f2\u5185\u3067\u5171\u901a\u306e3.7 Mb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u3092\u6709\u3057\u3001\u6b8b\u308a\u306f1.3\uff5e15.2 Mb\u306e\u7bc4\u56f2\u306e\u975e\u518d\u767a\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u3092\u6709\u3057\u3066\u3044\u305f\u3002 \u91cd\u8981\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">PTLS<\/a>\u9818\u57df\u306f\u3001\u30ec\u30c1\u30ce\u30a4\u30f3\u9178\u8a98\u5c0e\u60271(RAI1)\u907a\u4f1d\u5b50\u304a\u3088\u3073\u4ed6\u306e17\u907a\u4f1d\u5b50<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/#reference03\"><sup>3<\/sup><\/a> \u3092\u542b\u30801.3 Mb\u306e\u9577\u3055\u3068\u3057\u3066\u540c\u5b9a\u3055\u308c\u305f\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">PTLS<\/a>\u60a3\u8005\u306e\u4e00\u822c\u7684\u306a\u8868\u73fe\u578b\u306f\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u6442\u98df\u4e0d\u826f\u3001\u767a\u80b2\u4e0d\u5168\u3001\u4e73\u5150\u671f\u306e\u767a\u9054\u9045\u6ede\u3001\u8a00\u8a9e\u969c\u5bb3\u3001\u5e7c\u5150\u671f\u306e\u591a\u52d5\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u5e74\u9577\u5150\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u304a\u3088\u3073\u884c\u52d5\u969c\u5bb3\u3001\u304a\u3088\u3073\u5fc3\u8840\u7ba1\u7cfb\u306e\u554f\u984c\u3067\u3042\u308b\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\/\">\u91cd\u8907<\/a>\u9818\u57df\u306e\u5927\u304d\u3055\u306e\u5909\u52d5\u3067\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">PTLS<\/a>\u60a3\u8005\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u306b\u304a\u3051\u308b\u5e83\u7bc4\u306a\u591a\u69d8\u6027\u304a\u3088\u3073\u91cd\u75c7\u5ea6\u304c\u8aac\u660e\u3067\u304d\u308b\u3002 \u672c\u7814\u7a76\u3067\u306f\u3001\u8457\u8005\u3089\u306f\u5168\u822c\u7684\u306a\u767a\u9054\u9045\u5ef6\u3092\u6709\u3059\u308b\u5c0f\u5150\u306b\u304a\u3051\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5fae\u5c0f\u91cd\u890717p11.2<\/a>\u3092\u540c\u5b9a\u3057\u305f\u3002 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u306e\u30b5\u30a4\u30ba\u306f4.2 Mb\u3068\u63a8\u5b9a\u3055\u308c\u3001\u3053\u308c\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">PTLS<\/a>\u306e\u5171\u901a\u304a\u3088\u3073\u81e8\u754c\u9818\u57df\u3068\u91cd\u306a\u308b\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%87%E4%BE%8B%E5%A0%B1%E5%91%8A\"><\/span>\u75c7\u4f8b\u5831\u544a<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u60a3\u8005\u306f3\u6b73\u5973\u5150\u3067\u3001\u975e\u8840\u7e01\u7d50\u5a5a\u306e2\u756a\u76ee\u306e\u5b50\u3067\u3042\u3063\u305f\u3002 \u5f7c\u5973\u306f\u3001\u591a\u52d5\u3001\u767a\u9054\u9045\u6ede\u3001\u4e2d\u67a2\u6027\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u304a\u3088\u3073\u4f53\u91cd\u5897\u52a0\u4e0d\u826f\u306e\u554f\u984c\u3092\u4f34\u3046UKMMC\u306e\u5c0f\u5150\u767a\u9054\u30bb\u30f3\u30bf\u30fc(CDC)\u306b\u6765\u9662\u3057\u305f\u3002 \u51fa\u751f\u6642\u4f53\u91cd2890g\u306e\u5e1d\u738b\u5207\u958b\u306b\u3088\u308a\u6e80\u671f\u7523\u3068\u306a\u3063\u305f\u3002 \u6bcd\u89aa\u306f39\u6b73\u3067\u3001\u598a\u5a20\u4e2d\u306b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gestational-diabetes-food\/\">\u598a\u5a20\u7cd6\u5c3f\u75c5<\/a>\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3002 \u4e73\u5150\u671f\u521d\u671f\u306b\u306f\u3001\u60a3\u8005\u306f\u6d3b\u52d5\u7684\u3067\u3042\u3063\u305f\u304c\u3001\u6388\u4e73\u4e2d\u306b\u3086\u3063\u304f\u308a\u3057\u305f\u5438\u4e73\u3092\u3057\u3066\u3044\u305f\u3002 \u751f\u5f8c48\u6642\u9593\u76ee\u3001\u60a3\u8005\u306f\u4f4e\u8840\u7cd6\u306b\u7d9a\u767a\u3059\u308b\u547c\u5438\u6291\u5236\u306e\u305f\u3081\u65b0\u751f\u5150\u96c6\u4e2d\u6cbb\u7642\u5ba4\u306b\u5165\u9662\u3057\u305f\u3002 \u60a3\u8005\u306f\u7406\u5b66\u7642\u6cd5\u90e8\u306b\u7d39\u4ecb\u3055\u308c\u30012\u6b73\u3067\u6b69\u884c\u3092\u958b\u59cb\u3057\u305f\u3002 \u5f7c\u5973\u306f\u8d70\u308a\u3001\u968e\u6bb5\u3092\u4e0a\u308a\u3001\u4e00\u6b69\u305a\u3064\u6b69\u304f\u3053\u3068\u304c\u3067\u304d\u305f\u304c\u3001\u968e\u6bb5\u3092\u4e0b\u308a\u308b\u3053\u3068\u306f\u3067\u304d\u306a\u304b\u3063\u305f\u3002 \u5f7c\u5973\u306f11\u8a9e\u306e\u8a00\u8449\u3092\u610f\u5473\u3092\u3082\u3063\u3066\u8a71\u3059\u3053\u3068\u304c\u3067\u304d\u3001\u5358\u7d14\u306a\u6307\u793a\u306b\u5f93\u3046\u3053\u3068\u304c\u3067\u304d\u305f\u3002 \u5f7c\u5973\u306f\u81ea\u5206\u3067\u98df\u4e8b\u3092\u3068\u308b\u3053\u3068\u304c\u3067\u304d\u305a\u3001\u6bce\u65e5\u907a\u5c3f\u3001\u591c\u5c3f\u304c\u3042\u3063\u305f\u3002 \u8074\u529b\u304a\u3088\u3073\u773c\u306e\u8a55\u4fa1\u306f\u6b63\u5e38\u3067\u3042\u3063\u305f\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<p>\u672c\u75c7\u4f8b\u5831\u544a\u3067\u306f\u4e21\u89aa\u304b\u3089\u30a4\u30f3\u30d5\u30a9\u30fc\u30e0\u30c9\u30b3\u30f3\u30bb\u30f3\u30c8\u3092\u5f97\u305f\u3002 \u7814\u7a76\u30d7\u30ed\u30c8\u30b3\u30fc\u30eb\u304a\u3088\u3073\u30a4\u30f3\u30d5\u30a9\u30fc\u30e0\u30c9\u30fb\u30b3\u30f3\u30bb\u30f3\u30c8\u306f\u3001University Kebangsaan Malaysia Research Committee Board\u306b\u3088\u308a\u627f\u8a8d\u3055\u308c\u305f\u3002 \u907a\u4f1d\u5b66\u7684\u6240\u898b \u8840\u6db2\u30ea\u30f3\u30d1\u7403\u57f9\u990a\u306f\u3001\u6a19\u6e96\u30d7\u30ed\u30c8\u30b3\u30fc\u30eb\u306b\u5f93\u3063\u3066\u60a3\u8005\u306e\u8840\u6db2\u8a66\u6599\u304b\u3089\u8abf\u88fd\u3057\u305f\u3002 \u30ae\u30e0\u30b6\u30d0\u30f3\u30c9\u67d3\u8272\u4f53\u3092\u3001\u534a\u6570\u4f53(bph)\u5206\u89e3\u80fd550\u30d0\u30f3\u30c9\u3067\u6b63\u5e38\u306a\u96cc\u6838\u578b\u3092\u793a\u305920\u306e\u4e2d\u671f\u304b\u3089\u5206\u6790\u3057\u305f(<strong>\u56f31<\/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>\u56f31<\/strong>: 46,XX\u3092\u793a\u3059\u60a3\u8005\u306eG\u30d0\u30f3\u30c7\u30a3\u30f3\u30b0\u6838\u578b<\/figcaption><\/figure><\/div>\n\n\n<p>\u30b2\u30ce\u30e0DNA\u306f\u3001DNeasy Blood &amp; Tissue\u30ad\u30c3\u30c8\u3092\u7528\u3044\u3066\u3001\u88fd\u9020\u696d\u8005\u306e\u63a8\u5968\u624b\u9806(\u30c9\u30a4\u30c4\u3001Qiagen)\u306b\u5f93\u3063\u3066\u60a3\u8005\u306e\u8840\u6db2\u8a66\u6599\u304b\u3089\u62bd\u51fa\u3057\u305f\u3002 \u6a19\u6e96\u30b5\u30f3\u30d7\u30eb\u3068\u3057\u3066\u901a\u5e38\u306e\u5e02\u8ca9\u306e\u96ccgDNA(Agilents Technologies, USA)\u3092\u4f7f\u7528\u3057\u305f\u3002 DNA\u306e\u8cea\u304a\u3088\u3073\u91cf\u306f\u30011.0%\u30a2\u30ac\u30ed\u30fc\u30b9\u30b2\u30eb\u4e2d\u3067\u306e\u96fb\u6c17\u6cf3\u52d5\u304a\u3088\u3073NanoDrop UVVIS\u5206\u5149\u5149\u5ea6\u8a08(Nanodrop Tech)\u3092\u7528\u3044\u3066\u8a55\u4fa1\u3057\u305f\u3002 \u305d\u308c\u305e\u308c\u3001\u7c73\u56fd Agilent\u2019s Direct Method of Oligo Array CGH\u30ef\u30fc\u30af\u30d5\u30ed\u30fc(Agilent Technologies, USA)\u306b\u5f93\u3044\u3001Agilent Human Genome 4x44K\u30aa\u30ea\u30b4\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u30a2\u30ec\u30a4\u30b9\u30e9\u30a4\u30c9\u4e0a\u3067\u30a2\u30ec\u30a4CGH\u3092\u5b9f\u65bd\u3057\u305f\u3002 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u89e3\u6790\u306e\u7d50\u679c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u67d3\u8272\u4f5317p11.2<\/a>\u4e0a\u3067\u7d044.2 Mb\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u304c\u691c\u51fa\u3055\u308c\u305f(<strong>\u56f32<\/strong>)\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u306e\u958b\u59cb\u70b9\u304a\u3088\u3073\u505c\u6b62\u70b9\u306f\u3001\u305d\u308c\u305e\u308c\u300116,782,546\u304a\u3088\u307321,050,337 kb\u3068\u63a8\u5b9a\u3055\u308c\u305f\u3002 \u3053\u306e\u9818\u57df\u306f\u3001\u91cd\u8981\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">PTLS<\/a>\u9818\u57df\u306e\u907a\u4f1d\u5b50\u3092\u542b\u3080122\u500b\u306eRefSeq\u907a\u4f1d\u5b50\u3092\u542b\u3080\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>\u56f32:<\/strong>(A)<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>CGH\u5206\u6790\u306f\u3001\u63a8\u5b9a\u30b5\u30a4\u30ba4.2 Mb(16,782,546-21,050,337 kb)\u3067\u67d3\u8272\u4f5317p11.2\u306b\u304a\u3051\u308b\u91cd\u8907\u3092\u540c\u5b9a\u3057\u305f\u3002 (B) TNFRSF13B\u304b\u3089C17orf35B\u306b\u81f3\u308b122\u4ee5\u4e0a\u306e\u907a\u4f1d\u5b50\u3092\u542b\u307f\u3001PTLS\u306e3.7 Mb\u5171\u901a\u53cd\u5fa9\u9818\u57df\u30681.3 Mb\u81e8\u754cPTLS\u9818\u57df\u3068\u304c\u91cd\u306a\u308a\u5408\u3063\u305f\u91cd\u8907\u9818\u57df(\u9ec4\u8272\u306e\u6c34\u5e73\u7dda)\u306e\u7bc4\u56f2\u3092\u793a\u3059\u6a21\u5f0f\u56f3<\/figcaption><\/figure><\/div>\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<p>\u3053\u308c\u307e\u3067\u306e\u5831\u544a\u304a\u3088\u3073\u30b2\u30ce\u30e0\u5909\u7570\u578b\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306e\u5185\u5bb9\u3092\u8003\u616e\u3059\u308b\u3068(http:\/\/dgv.tcag.ca\/gb2\/gbrowse\/dgv2_hg19\/)\u3001\u3053\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u30dd\u30c8\u30c3\u30ad\u30fc-\u30eb\u30d7\u30b9\u30ad\u30fc\u75c7\u5019\u7fa4\u91cd\u8907<\/a>\u306e\u7279\u5fb4\u3068\u8003\u3048\u3089\u308c\u3001\u7528\u91cf\u611f\u53d7\u6027RAI1\u907a\u4f1d\u5b50\u3092\u542b\u3080)\u3001 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u306e\u7d50\u679c\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u3001\u7279\u7570\u7684\u30d7\u30ed\u30fc\u30d6Agilent SureFISH 17p11.2 GLL1-SHMT1(\u30b9\u30da\u30af\u30c8\u30eb\u8d64)\u3001Agilent SureFISH 17p11.2 RAI1(\u30b9\u30da\u30af\u30c8\u30eb\u7dd1)\u304a\u3088\u3073\u5bfe\u7167Agilent SureFISH 17 CEP BL(\u30b9\u30da\u30af\u30c8\u30eb\u30a2\u30af\u30a2)\u3092\u7528\u3044\u3066FISH\u3092\u884c\u3063\u305f\u3002 \u5206\u6790\u3057\u305f150\u6838\u3067\u306e\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u306e\u7d50\u679c\u306f\u3001RAI1\u304a\u3088\u3073SHMT1\u907a\u4f1d\u5b50\u5ea7\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u306e\u8a3c\u62e0\u3092\u793a\u3057\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u306e\u6240\u898b\u3092\u78ba\u8a8d\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u4e21\u89aa\u3068\u3082\u6b63\u5e38\u306a\u6838\u578b(\u30c7\u30fc\u30bf\u306f\u793a\u3057\u3066\u3044\u306a\u3044)\u3068\u6b63\u5e38\u306aFISH\u30b7\u30b0\u30ca\u30eb\u30d1\u30bf\u30fc\u30f3\u3001\u3059\u306a\u308f\u3061\u8d64\u82722\u500b\u3001\u7dd1\u82722\u500b\u3001\u30a2\u30af\u30a22\u500b\u3092\u3082\u3064(<strong>\u56f33<\/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>\u56f33<\/strong> :RAI1(\u7dd1)\u3001SHMT1(\u8d64)\u304a\u3088\u3073\u5bfe\u7167\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\u30d7\u30ed\u30fc\u30d6\u67d3\u8272\u4f5317(\u30a2\u30af\u30a2)\u306b\u7279\u7570\u7684\u306a17p11.2\u30d7\u30ed\u30fc\u30d6\u3092\u4f7f\u7528\u3059\u308b\u9593\u671f\u7d30\u80de\u4e0a\u306eFISH\u3002 A\u304a\u3088\u3073B:RAI1\u304a\u3088\u3073SHMT1\u306e\u8907\u88fd\u3092\u793a\u3059\u60a3\u8005\u306e\u9593\u671f\u7d30\u80de\u4e0a\u306e\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u30d1\u30bf\u30fc\u30f3;C\u304a\u3088\u3073D:\u89aa\u306e\u9593\u671f\u7d30\u80de\u4e0a\u306e\u6b63\u5e38\u306a\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u30d1\u30bf\u30fc\u30f3\u3067\u3001\u30d7\u30ed\u30fc\u30d6\u306e2\u3064\u306e\u6b63\u5e38\u306a\u30b3\u30d4\u30fc(2\u3064\u306e\u7dd1\u8272\u304a\u3088\u30732\u3064\u306e\u8d64\u8272\u30b7\u30b0\u30ca\u30eb)\u3092\u793a\u3059\u3002 NI\u6b63\u5e38\u3001\u91cd\u8907\u3001\u91cd\u8907<\/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%80%83%E5%AF%9F\"><\/span>\u8003\u5bdf<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30a2\u30ec\u30a4CGH\u306f\u3001\u9ad8\u89e3\u50cf\u5ea6(\u22661 Mb)\u3067\u3001\u30b3\u30d4\u30fc\u6570\u306e\u5909\u7570(\u5897\u5e45\u307e\u305f\u306f\u6b20\u5931)\u304a\u3088\u3073\u5168\u67d3\u8272\u4f53\u304a\u3088\u3073\u30b2\u30ce\u30e0\u306b\u308f\u305f\u308b\u5358\u4e00\u30b3\u30d4\u30fc\u306e\u5897\u6e1b\u3092\u540c\u5b9a\u3057\u3001\u30d2\u30c8\u30b2\u30ce\u30e0\u306e\u7269\u7406\u7684\u304a\u3088\u3073\u907a\u4f1d\u7684\u5730\u56f3\u306b\u95a2\u9023\u3059\u308b\u6b63\u78ba\u306a\u4f4d\u7f6e\u60c5\u5831\u3092\u53ef\u80fd\u306b\u3059\u308b\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/#reference07\"><sup>7<\/sup><\/a> \u3053\u306e\u6280\u8853\u306f\u3001\u3088\u308a\u8cbb\u7528\u5bfe\u52b9\u679c\u304c\u9ad8\u304f\u3001\u624b\u9803\u306a\u4fa1\u683c\u306b\u306a\u308a\u3001\u4e2d\u6240\u5f97\u56fd\u3092\u542b\u3080\u591a\u304f\u306e\u7814\u7a76\u6240\u304c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/learning-disabilities-genetics-support\/\">\u5b66\u7fd2\u969c\u5bb3<\/a>\u306e\u3042\u308b\u60a3\u8005\u306b\u304a\u3051\u308b\u7b2c\u4e00\u9078\u629e\u306e\u8a3a\u65ad\u691c\u67fb\u3068\u3057\u3066\u5229\u7528\u3057\u59cb\u3081\u305f\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/#reference08\"><sup>8<\/sup><\/a> \u3057\u304b\u3057\u3001\u3053\u306e\u6280\u8853\u3067\u306f\u30d0\u30e9\u30f3\u30b9\u306e\u3068\u308c\u305f\u8ee2\u5ea7\u3092\u540c\u5b9a\u3067\u304d\u306a\u3044\u3053\u3068\u306b\u7559\u610f\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3042\u308a\u3001\u3057\u305f\u304c\u3063\u3066\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/learning-disabilities-genetics-support\/\">\u5b66\u7fd2\u969c\u5bb3<\/a>\u304a\u3088\u3073\u5148\u5929\u7570\u5e38\u3092\u6709\u3059\u308b\u60a3\u8005\u306e\u8abf\u67fb\u306b\u306f\u5e38\u306b\u5f93\u6765\u306e\u6838\u578b\u5206\u6790\u3092\u542b\u3081\u306a\u3051\u308c\u3070\u306a\u3089\u306a\u3044\u3002<\/p>\n\n\n\n<p>\u56fd\u969b\u6a19\u6e96\u7d30\u80de\u30b2\u30ce\u30e0\u30a2\u30ec\u30a4(ISCA)\u30b3\u30f3\u30bd\u30fc\u30b7\u30a2\u30e0\u304c\u5b9f\u65bd\u3057\u305f\u8abf\u67fb\u306e\u30a8\u30d3\u30c7\u30f3\u30b9\u306b\u3088\u308c\u3070\u3001\u767a\u9054\u9045\u6ede\/<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u3001\u304a\u3088\u3073\u591a\u767a\u6027\u5148\u5929\u7570\u5e38\u3092\u6709\u3059\u308b\u60a3\u8005\u306e\u7b2c\u4e00\u6bb5\u968e\u306e\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u8a3a\u65ad\u691c\u67fb\u3068\u3057\u3066\u3001\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u3092\u9069\u7528\u3059\u3079\u304d\u3067\u3042\u308b\u3002\u3053\u308c\u306f\u4e3b\u306b\u3001\u5f93\u6765\u306eG\u30d0\u30f3\u30c9\u89e3\u6790\u3068\u6bd4\u8f03\u3057\u3066\u611f\u5ea6\u304c\u9ad8\u3044\u305f\u3081\u3067\u3042\u308b\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/#reference09\"><sup>9<\/sup><\/a> \u3055\u3089\u306b\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/learning-disabilities-genetics-support\/\">\u5b66\u7fd2\u969c\u5bb3<\/a>(\u7cbe\u795e\u9045\u6ede)\u304a\u3088\u3073\u5148\u5929\u7570\u5e38\u3092\u6709\u3059\u308b\u88ab\u9a13\u800513,926\u4eba\u3092\u5bfe\u8c61\u3068\u3057\u305f\u5927\u898f\u6a21\u306a\u7cfb\u7d71\u7684\u30ec\u30d3\u30e5\u30fc\u306b\u3088\u308a\u3001\u6838\u578b\u5224\u5b9a\u304c\u6b63\u5e38\u306a\u3053\u306e\u3088\u3046\u306a\u60a3\u8005\u306e\u7814\u7a76\u306b\u30a2\u30ec\u30a4CGH\u3092\u30eb\u30fc\u30c1\u30f3\u306b\u4f7f\u7528\u3059\u308b\u3053\u3068\u3092\u652f\u6301\u3059\u308b\u30a8\u30d3\u30c7\u30f3\u30b9\u304c\u5f97\u3089\u308c\u3066\u3044\u308b\u3002 \u3057\u304b\u3057\u3001\u3053\u306e\u7814\u7a76\u3067\u306f\u3001\u7d50\u679c\u306e\u89e3\u91c8\u306b\u306f\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3042\u308b\u3053\u3068\u3082\u793a\u5506\u3055\u308c\u3066\u3044\u308b\u3002\u306a\u305c\u306a\u3089\u3001\u3053\u306e\u6280\u8853\u3067\u306f\u539f\u56e0\u5909\u7570\u4f53\u3068\u540c\u7a0b\u5ea6\u306e\u5272\u5408\u3067\u507d\u967d\u6027\u3082\u540c\u5b9a\u3055\u308c\u308b\u304b\u3089\u3067\u3042\u308b\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<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u3068FISH\u306b\u3088\u308b\u691c\u8a3c\u3092\u7528\u3044\u3066\u3001\u8457\u8005\u3089\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">PTLS<\/a>\u306b\u95a2\u9023\u3059\u308b\u8457\u8005\u3089\u306e\u60a3\u8005\u306b\u304a\u3044\u3066\u7d044.2 Mb\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u890717p11.2<\/a>\u3092\u540c\u5b9a\u3057\u305f\u3002 \u8457\u8005\u3089\u306e\u60a3\u8005\u3067\u540c\u5b9a\u3055\u308c\u305f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u9818\u57df\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">PTLS<\/a>\u306e3.4 Mb\u5171\u901a\u9818\u57df\u30681.3 Mb\u81e8\u754c\u9818\u57df\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u3057\u3066\u3044\u308b(\u56f32)\u3002 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">PTLS<\/a>\u306e\u4e00\u822c\u7684\u306a\u8868\u73fe\u578b\u306b\u52a0\u3048\u3066\u3001\u8457\u8005\u3089\u306e\u60a3\u8005\u306f\u65b0\u751f\u5150\u4f4e\u8840\u7cd6\u3092\u6709\u3057\u3066\u3044\u308b\u3053\u3068\u3082\u6307\u6458\u3055\u308c\u305f\u3002 \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)\u306e\u5973\u6027\u3067\u306f\u3001\u4f4e\u8840\u7cd6\u306e\u5b50\u4f9b\u304c\u751f\u307e\u308c\u308b\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u3053\u3068\u306f\u3088\u304f\u77e5\u3089\u308c\u3066\u3044\u308b\u3002 \u5f93\u3063\u3066\u3001\u8457\u8005\u3089\u306e\u60a3\u8005\u306b\u304a\u3051\u308b\u65b0\u751f\u5150\u4f4e\u8840\u7cd6\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u306e\u5f71\u97ff\u3088\u308a\u3082\u3080\u3057\u308d\u6bcd\u89aa\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gestational-diabetes-food\/\">\u598a\u5a20\u7cd6\u5c3f\u75c5<\/a>\u306b\u8d77\u56e0\u3059\u308b\u53ef\u80fd\u6027\u304c\u6700\u3082\u9ad8\u3044\u3002 \u4e21\u89aa\u306e\u8840\u6db2\u30b5\u30f3\u30d7\u30eb\u306b\u5bfe\u3057\u3066\u5b9f\u65bd\u3057\u305fFISH\u5206\u6790\u304a\u3088\u3073\u6838\u578b\u5206\u985e\u306f\u6b63\u5e38\u306a\u7d50\u679c\u3092\u793a\u3057\u3001\u3053\u306e\u60a3\u8005\u306b\u304a\u3051\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">PTLS<\/a>\u304cde novo\u4e8b\u8c61\u3068\u3057\u3066\u767a\u751f\u3057\u305f\u3053\u3068\u3092\u793a\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u5831\u544a\u3055\u308c\u305f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">PTLS\u75c7\u4f8b<\/a>\u306e\u5927\u591a\u6570\u306fde novo\u3067\u3042\u308b\u304c\u3001\u73fe\u5728\u307e\u3067\u306b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u6027PTLS<\/a>\u306e2\u3064\u306e\u5831\u544a(3\u5bb6\u7cfb)\u304c\u3042\u308b\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\u3001Lee\u3089<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/#reference12\"><sup>12<\/sup><\/a> \u306f\u3001\u5fae\u5999\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">PTLS<\/a>\u8868\u73fe\u578b\u3092\u6709\u3059\u308b\u7537\u5150\u306b\u304a\u3044\u3066\u3001\u6700\u77ed\u306e0.25 Mb(17,575,978-17,824,623)<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u890717p11.2<\/a>\u3092\u767a\u898b\u3057\u305f\u3002 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u9818\u57df\u306f\u91cd\u8981\u306aPTLS\u9818\u57df\u5185\u306b\u3042\u308a\u3001RAI1\u3001SMCR5\u3001SREBF1\u304a\u3088\u3073TOM1L2\u306e4\u3064\u306e\u907a\u4f1d\u5b50\u306e\u307f\u3092\u542b\u3080\u3002 \u4ee5\u524d\u306e\u5831\u544a\u3068\u4e00\u81f4\u3057\u3066\u3001\u5f7c\u3089\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">PTLS<\/a>\u8868\u73fe\u578b\u306e\u4e3b\u306a\u81e8\u5e8a\u7684\u7279\u5fb4\u306b\u95a2\u4e0e\u3059\u308b\u91cd\u8981\u306a\u7528\u91cf\u611f\u53d7\u6027\u907a\u4f1d\u5b50\u3068\u3057\u3066RAI1\u3001\u304a\u3088\u3073\u5225\u306e\u6f5c\u5728\u7684\u5019\u88dc\u907a\u4f1d\u5b50\u3068\u3057\u3066SREBF1\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u5506\u3057\u305f\u3002 \u3057\u304b\u3057\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">PTLS<\/a>\u304cRAI1\u307e\u305f\u306fSREBF1\u907a\u4f1d\u5b50\u5ea7\u306e\u307f\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907<\/a>\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u304b\u3069\u3046\u304b\u306f\u4f9d\u7136\u3068\u3057\u3066\u4e0d\u660e\u3067\u3042\u308b\u3002 \u30de\u30a6\u30b9\u30e2\u30c7\u30eb\u306e\u7814\u7a76\u306f\u307e\u305f\u3001Rai1\u304c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">PTLS<\/a>\u306e\u8868\u73fe\u578b\u306b\u95a2\u4e0e\u3059\u308b\u91cd\u8981\u304b\u3064\u7528\u91cf\u611f\u53d7\u6027\u907a\u4f1d\u5b50\u3067\u3042\u308b\u3068\u3044\u3046\u8a3c\u62e0\u3092\u63d0\u4f9b\u3057\u3066\u3044\u308b\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>\u7d50\u8ad6\u3068\u3057\u3066\u3001\u8457\u8005\u3089\u306e\u77e5\u898b\u306f\u3001\u30eb\u30fc\u30c1\u30f3\u306e\u30ae\u30e0\u30b6\u30d0\u30f3\u30c9(G\u30d0\u30f3\u30c9)\u67d3\u8272\u4f53\u306e\u307f\u3092\u5206\u6790\u3057\u305f\u5834\u5408\u306b\u898b\u9003\u3055\u308c\u305f\u3067\u3042\u308d\u3046<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">17p11.2\u91cd\u8907(PTLS)<\/a>\u306e\u540c\u5b9a\u3068\u78ba\u8a8d\u306b\u304a\u3051\u308b\u30a2\u30ec\u30a4CGH\u3068\u9593\u671fFISH\u306e\u91cd\u8981\u6027\u3092\u793a\u3057\u305f\u3002 \u4e00\u500d\u4f53\u89e3\u50cf\u5ea6(bph)\u3042\u305f\u308a550\u30d0\u30f3\u30c7\u30a3\u30f3\u30b0\u3067\u30015 Mb\u4ee5\u4e0a\u306e\u6b20\u5931\u307e\u305f\u306f\u4ed8\u52a0\u3092\u542b\u3080<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u304c\u3001\u3088\u308a\u5c0f\u3055\u306a\u7570\u5e38(&lt;5 Mb)\u3067\u306f\u3001\u3088\u308a\u9ad8\u3044\u30d0\u30f3\u30c9\u89e3\u50cf\u5ea6\u3001\u307e\u305f\u306f\u4ee3\u66ff\u7684\u306b\u3001FISH\u3001\u30a2\u30ec\u30a4CGH\u3001\u914d\u5217\u6c7a\u5b9a\u307e\u305f\u306fNGS\u306e\u3088\u3046\u306a\u3088\u308a\u7279\u6b8a\u5316\u3057\u305f\u6280\u8853\u304c\u3001\u3053\u306e\u67d3\u8272\u4f53\u518d\u914d\u5217\u3092\u89e3\u660e\u3059\u308b\u305f\u3081\u306e\u6700\u826f\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\u3067\u3042\u308d\u3046\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\"><div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%AC%9D%E8%BE%9E\"><\/span>\u8b1d\u8f9e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u672c\u6cbb\u9a13\u306b\u3054\u53c2\u52a0\u3044\u305f\u3060\u3044\u305f\u60a3\u8005\u69d8\u3001\u3054\u4e21\u89aa\u306e\u7686\u69d8\u306b\u611f\u8b1d\u7533\u3057\u4e0a\u3052\u307e\u3059\u3002 \u307e\u305f\u3001UKMMC\u75c5\u7406\u90e8\u7d30\u80de\u907a\u4f1d\u5b66\u30e6\u30cb\u30c3\u30c8\u306e\u30b9\u30bf\u30c3\u30d5\u306e\u6280\u8853\u7684\u306a\u614b\u5ea6\u3068\u652f\u63f4\u306b\u611f\u8b1d\u7533\u3057\u4e0a\u3052\u307e\u3059\u3002 \u672c\u7814\u7a76\u306f\u3001UKM-GUP-2011-320\u304a\u3088\u3073FF-2013-329\u306b\u5bfe\u3057\u3066\u3001\u30b1\u30d0\u30f3\u30b6\u30f3\u5927\u5b66\u30de\u30ec\u30fc\u30b7\u30a2\u6821\u304b\u3089\u52a9\u6210\u3092\u53d7\u3051\u305f\u3002<\/p>\n\n\n\n<p>\u8457\u8005\u306f\u3001\u5229\u76ca\u76f8\u53cd\u304c\u306a\u3044\u3053\u3068\u3092\u5ba3\u8a00\u3059\u308b\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\u306e\u91cd\u8907\u60a3\u80052\u4f8b: Smith-Magenis\u75c7\u5019\u7fa4\u6b20\u5931\u306e\u9006\u6570? Am J Med Genet. 1996; 63: 373-7.<\/li>\n\n\n\n<li>Potocki L, Chen KS, Park SS, et al. \u91cd\u8907\u306e\u5206\u5b50\u6a5f\u69cb17p11.2-Smith-Magenis<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306e\u76f8\u540c\u7d44\u63db\u3048\u76f8\u4e92\u3002 \u30ca\u30c3\u30c8\u30b8\u30a7\u30cd\u30c3\u30c8 2000; 24: 84-7.<\/li>\n\n\n\n<li>Potocki L, Bi W, Treadwell-Deering D, et al. Potocki-Lupski\u75c7\u5019\u7fa4(dup(17)(p11.2p11.2))\u306e\u7279\u5fb4\u3065\u3051\u304a\u3088\u3073<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u306e\u8868\u73fe\u578b\u3092\u4f1d\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u7528\u91cf\u611f\u53d7\u6027\u81e8\u754c\u9593\u9694\u306e\u63cf\u51fa\u3002 Am J Hum Genet. 2007; 80: 633-49.<\/li>\n\n\n\n<li>Zhang F, Potocki L, Sampson JB, et al. \u307e\u308c\u306b\u518d\u767a\u3059\u308bPotocki-Lupski\u75c7\u5019\u7fa4\u95a2\u9023\u91cd\u8907\u306e\u540c\u5b9a\u3001\u304a\u3088\u3073PTLS\u306b\u304a\u3051\u308b\u518d\u69cb\u6210\u306e\u30bf\u30a4\u30d7\u3068\u6a5f\u5e8f\u306e\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\u75c7\u5019\u7fa4:\u53e3\u8154\u54bd\u982d\u969c\u5bb3\u304a\u3088\u3073\u767a\u80b2\u4e0d\u5168\u3068\u95a2\u9023\u3059\u308b\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4\u3002 J Pediatr. 2011; 158: 655-9.<\/li>\n\n\n\n<li>Jefferies JL, Pignatelli RH, Martinez HR, et al. \u91cd\u890717p11.2\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308b\u5fc3\u8840\u7ba1\u6240\u898b\u3002 Genet Med. 2012; 14: 90-4.<\/li>\n\n\n\n<li>Cheung SW, Shaw CA, Yu W, et al. \u81e8\u5e8a\u7684\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u8a3a\u65ad\u306e\u305f\u3081\u306eCGH<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u306e\u958b\u767a\u3068\u691c\u8a3c\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 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/learning-disabilities-genetics-support\/\">\u5b66\u7fd2\u969c\u5bb3<\/a>(\u7cbe\u795e\u9045\u6ede)\u304a\u3088\u3073\u5148\u5929\u7570\u5e38\u306e\u60a3\u8005: 19\u4ef6\u306e\u7814\u7a76\u304a\u3088\u307313,926\u4f8b\u306e\u6700\u65b0\u306e\u30b7\u30b9\u30c6\u30de\u30c6\u30a3\u30c3\u30af\u30fb\u30ec\u30d3\u30e5\u30fc\u304a\u3088\u3073\u30e1\u30bf\u30a2\u30ca\u30ea\u30b7\u30b9\u3002 Genet Med. 2009; 11:139-46.<\/li>\n\n\n\n<li>Miller DT, Adam MP, Aradhya S, et al. \u30b3\u30f3\u30bb\u30f3\u30b5\u30b9\u58f0\u660e:\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u306f\u3001\u767a\u9054\u969c\u5bb3\u307e\u305f\u306f\u5148\u5929\u7570\u5e38\u3092\u6709\u3059\u308b\u500b\u4eba\u306b\u5bfe\u3059\u308b\u7b2c\u4e00\u6bb5\u968e\u306e\u81e8\u5e8a\u8a3a\u65ad\u691c\u67fb\u3067\u3042\u308b\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\u75c7\u5019\u7fa4:\u5de6\u5fc3\u4f4e\u5f62\u6210\u3092\u4f34\u3046\u907a\u4f1d\u6027\u8907\u88fd(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. \u907a\u4f1d\u6027dup(17)(p11.2p11.2):Potocki-Lupski\u75c7\u5019\u7fa4\u306e\u8868\u73fe\u578b\u3092\u62e1\u5927\u3059\u308b\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\u3092\u542b\u308017p11.2\u306b\u304a\u3051\u308b\u6700\u3082\u77ed\u30440.25 Mb\u306e\u5fae\u5c0f\u91cd\u8907\u3092\u4f34\u3046Potocki-Lupski\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u7684\u304a\u3088\u3073\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u7279\u5fb4\u3002 \u8133\u90e8 2013; 35: 681-5.<\/li>\n\n\n\n<li>Walz K, Paylor R, Yan J, Bi W, Lupski JR. Rai1\u306e\u91cd\u8907\u306f\u3001dup(17)\u306e\u30de\u30a6\u30b9\u30e2\u30c7\u30eb\u306b\u304a\u3044\u3066\u7269\u7406\u7684\u304a\u3088\u3073\u884c\u52d5\u7684\u8868\u73fe\u578b\u3092\u5f15\u304d\u8d77\u3053\u3059(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: <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u884c\u52d5\u3092\u542b\u3080\u795e\u7d4c\u884c\u52d5\u5909\u5316\u306b\u95a2\u9023\u3059\u308b\u7528\u91cf\u611f\u53d7\u6027\u907a\u4f1d\u5b50\u3002 \u30ab\u30fc\u30b2\u30ce\u30df\u30af\u30b9 2010; 11: 607-17.<\/li>\n<\/ol>\n\n\n\n<p>\u9023\u7d61\u5148: 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 \u96fb\u8a71\u756a\u53f7: 603-91459511\u3001FAX\u756a\u53f7: 603-91459485 \u30e1\u30fc\u30eb: 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\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":523,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[71],"tags":[74,43,49],"class_list":["post-18384","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-treatise","tag-duplication-syndrome","tag-gene","tag-genetic-disease"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/18384","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=18384"}],"version-history":[{"count":7,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/18384\/revisions"}],"predecessor-version":[{"id":107662,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/18384\/revisions\/107662"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/523"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=18384"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=18384"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=18384"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}