{"id":83517,"date":"2024-11-14T14:22:01","date_gmt":"2024-11-14T05:22:01","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83517"},"modified":"2025-08-12T10:58:31","modified_gmt":"2025-08-12T01:58:31","slug":"7q36-3-duplication-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q36-3-duplication-syndrome\/","title":{"rendered":"7q36.3\u91cd\u8907\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p>7q36.3\u306e\u5fae\u5c0f\u91cd\u8907\u306f\u3001\u907a\u4f1d\u5b50\u8abf\u7bc0\u56e0\u5b50\u3068\u3057\u3066\u91cd\u8981\u306aZRS\u9818\u57df\u3092\u542b\u307f\u3001Sonic hedgehog\uff08SHH\uff09\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u7570\u5e38\u3092\u901a\u3058\u3066\u56db\u80a2\u5f62\u6210\u3084\u81d3\u5668\u767a\u751f\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u3059\u3002\u3053\u306e\u7570\u5e38\u306fTPT-PS\u3084\u8907\u5408\u7684\u306a\u5148\u5929\u6027\u75be\u60a3\u306b\u95a2\u9023\u4ed8\u3051\u3089\u308c\u3066\u304a\u308a\u3001\u8ffd\u52a0\u306e\u907a\u4f1d\u7684\u8981\u56e0\u306e\u53ef\u80fd\u6027\u3082\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u3053\u306e\u5fae\u5c0f\u91cd\u8907\u304c\u81d3\u5668\u3084\u5f62\u614b\u5f62\u6210\u306b\u4e0e\u3048\u308b\u5f71\u97ff\u3092\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p><\/div>\n\n\n\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\/7q36-3-duplication-syndrome\/#7q363%E3%81%AE%E5%BE%AE%E5%B0%8F%E9%87%8D%E8%A4%87%E3%81%A8%E3%81%9D%E3%82%8C%E3%81%AB%E9%96%A2%E9%80%A3%E3%81%99%E3%82%8B%E7%96%BE%E6%82%A3\" >7q36.3\u306e\u5fae\u5c0f\u91cd\u8907\u3068\u305d\u308c\u306b\u95a2\u9023\u3059\u308b\u75be\u60a3<\/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\/7q36-3-duplication-syndrome\/#7q363%E3%81%A8Triphalangeal_Thumb-Polysyndactyly_Syndrome%EF%BC%88TPT-PS%EF%BC%89\" >7q36.3\u3068Triphalangeal Thumb-Polysyndactyly Syndrome\uff08TPT-PS\uff09<\/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\/7q36-3-duplication-syndrome\/#%E5%BF%83%E8%A1%80%E7%AE%A1%E7%96%BE%E6%82%A3%E3%81%A8%E7%9C%BC%E3%81%AE%E7%95%B0%E5%B8%B8%E3%82%92%E4%BC%B4%E3%81%86%E4%BE%8B%E5%A4%96%E7%9A%84%E3%81%AA%E7%97%87%E4%BE%8B\" >\u5fc3\u8840\u7ba1\u75be\u60a3\u3068\u773c\u306e\u7570\u5e38\u3092\u4f34\u3046\u4f8b\u5916\u7684\u306a\u75c7\u4f8b<\/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\/7q36-3-duplication-syndrome\/#SHH%E3%82%B7%E3%82%B0%E3%83%8A%E3%83%AB%E4%BC%9D%E9%81%94%E3%81%AE%E5%BD%B9%E5%89%B2%E3%81%A8%E3%81%9D%E3%81%AE%E5%BA%83%E7%AF%84%E3%81%AA%E5%BD%B1%E9%9F%BF\" >SHH\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306e\u5f79\u5272\u3068\u305d\u306e\u5e83\u7bc4\u306a\u5f71\u97ff<\/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\/7q36-3-duplication-syndrome\/#%E8%BF%BD%E5%8A%A0%E3%81%AE%E9%81%BA%E4%BC%9D%E7%9A%84%E8%A6%81%E5%9B%A0%E3%81%AE%E9%96%A2%E4%B8%8E\" >\u8ffd\u52a0\u306e\u907a\u4f1d\u7684\u8981\u56e0\u306e\u95a2\u4e0e<\/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\/7q36-3-duplication-syndrome\/#%E4%BB%8A%E5%BE%8C%E3%81%AE%E7%A0%94%E7%A9%B6%E3%81%B8%E3%81%AE%E6%9C%9F%E5%BE%85\" >\u4eca\u5f8c\u306e\u7814\u7a76\u3078\u306e\u671f\u5f85<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q36-3-duplication-syndrome\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\" >\u5f15\u7528\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7q363%E3%81%AE%E5%BE%AE%E5%B0%8F%E9%87%8D%E8%A4%87%E3%81%A8%E3%81%9D%E3%82%8C%E3%81%AB%E9%96%A2%E9%80%A3%E3%81%99%E3%82%8B%E7%96%BE%E6%82%A3\"><\/span>7q36.3\u306e\u5fae\u5c0f\u91cd\u8907\u3068\u305d\u308c\u306b\u95a2\u9023\u3059\u308b\u75be\u60a3<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/7q36.3-hgtIdeo_genome_127a03_df7320-1024x20.png\" alt=\"7q36.3 \" class=\"wp-image-90788\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>7q36.3\u306e\u5fae\u5c0f\u91cd\u8907\u306f\u3001\u907a\u4f1d\u5b66\u7684\u304a\u3088\u3073\u81e8\u5e8a\u7684\u306b\u91cd\u8981\u306a\u7814\u7a76\u5bfe\u8c61\u3068\u306a\u3063\u3066\u3044\u308b\u67d3\u8272\u4f53\u306e\u7570\u5e38\u3067\u3059\u3002\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u9032\u5316\u7684\u306b\u4fdd\u5b58\u3055\u308c\u305f\u30be\u30fc\u30f3\u5206\u6975\u6d3b\u6027\u8abf\u7bc0\u914d\u5217\uff08ZRS\uff09\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u306fSonic hedgehog\uff08SHH\uff09\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u3092\u5236\u5fa1\u3059\u308b\u91cd\u8981\u306a\u8abf\u7bc0\u56e0\u5b50\u3068\u3057\u3066\u6a5f\u80fd\u3057\u307e\u3059\u3002SHH\u306f\u80da\u767a\u751f\u671f\u306b\u304a\u3051\u308b\u5f62\u614b\u5f62\u6210\u56e0\u5b50\uff08\u30e2\u30eb\u30d5\u30a9\u30b2\u30f3\uff09\u3067\u3042\u308a\u3001\u81d3\u5668\u3084\u56db\u80a2\u306e\u6b63\u5e38\u306a\u767a\u751f\u306b\u6b20\u304b\u305b\u306a\u3044\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u9818\u57df\u306e\u5fae\u5c0f\u91cd\u8907\u3084\u305d\u306e\u4ed6\u306e\u5909\u7570\u306f\u3001\u3044\u304f\u3064\u304b\u306e\u73cd\u3057\u3044\u75be\u60a3\u3084\u7570\u5e38\u306e\u767a\u75c7\u306b\u5bc4\u4e0e\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>7q36.3\u306e\u5fae\u5c0f\u91cd\u8907\u304c\u81d3\u5668\u3084\u56db\u80a2\u5f62\u6210\u306b\u4e0e\u3048\u308b\u5f71\u97ff\u3092\u7406\u89e3\u3059\u308b\u306b\u306f\u3001SHH\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u3068ZRS\u306e\u5f79\u5272\u3092\u77e5\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002SHH\u306f\u80da\u767a\u751f\u306e\u521d\u671f\u6bb5\u968e\u3067\u524d\u5f8c\u8ef8\u3084\u5de6\u53f3\u8ef8\u3092\u5b9a\u7fa9\u3059\u308b\u30b7\u30b0\u30ca\u30eb\u3092\u767a\u3057\u3001\u7279\u306b\u56db\u80a2\u82bd\u306e\u5206\u6975\u6d3b\u6027\u30be\u30fc\u30f3\uff08ZPA\uff09\u306b\u304a\u3051\u308b\u5c40\u6240\u7684\u306a\u767a\u73fe\u306b\u3088\u3063\u3066\u3001\u6307\u3084\u8db3\u306e\u6b63\u78ba\u306a\u6570\u3084\u5f62\u72b6\u3092\u6c7a\u5b9a\u3057\u307e\u3059\u3002\u3053\u306e\u7cbe\u7dfb\u306a\u5236\u5fa1\u30b7\u30b9\u30c6\u30e0\u304c\u7834\u7dbb\u3059\u308b\u3068\u3001\u56db\u80a2\u5f62\u6210\u7570\u5e38\u3060\u3051\u3067\u306a\u304f\u3001\u4ed6\u306e\u81d3\u5668\u306b\u3082\u5e83\u7bc4\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"923\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/4d36d18c92a9f38fb1d67cb8d4277533.png\" alt=\"chromo7\" class=\"wp-image-89968\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7q363%E3%81%A8Triphalangeal_Thumb-Polysyndactyly_Syndrome%EF%BC%88TPT-PS%EF%BC%89\"><\/span>7q36.3\u3068Triphalangeal Thumb-Polysyndactyly Syndrome\uff08TPT-PS\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>TPT-PS\uff08\u5148\u5929\u6027\u4e09\u6307\u9aa8\u89aa\u6307\u591a\u6307\u591a\u8dbe\u75c7\u5019\u7fa4\uff09\u306f\u3001\u6bd4\u8f03\u7684\u7a00\u306a\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u3067\u306f\u3001\u901a\u5e38\u306e2\u3064\u306e\u6307\u9aa8\u3067\u306f\u306a\u304f3\u3064\u306e\u6307\u9aa8\u3092\u6301\u3064\u9577\u3044\u89aa\u6307\uff08triphalangeal thumb\uff09\u3084\u3001\u6307\u3068\u6307\u304c\u7652\u5408\u3059\u308b\u7652\u5408\u75c7\uff08syndactyly\uff09\u3001\u3055\u3089\u306b\u306f\u6307\u3084\u8db3\u304c\u5897\u3048\u308b\u591a\u6307\u75c7\uff08polydactyly\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u5ea7\u306f7q36.3\u306b\u4f4d\u7f6e\u3057\u3001ZRS\u9818\u57df\u306e\u5909\u7570\u3084\u91cd\u8907\u304c\u4e3b\u8981\u306a\u767a\u75c7\u8981\u56e0\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>ZRS\u306f\u3001SHH\u306e\u767a\u73fe\u3092\u9577\u8ddd\u96e2\u3067\u8abf\u7bc0\u3059\u308b\u30b7\u30fc\u30af\u30a8\u30f3\u30b9\u3067\u3042\u308a\u3001\u56db\u80a2\u82bd\u306e\u524d\u5f8c\u8ef8\u3092\u5f62\u6210\u3059\u308b\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u3092\u5236\u5fa1\u3057\u307e\u3059\u3002\u3053\u306e\u9818\u57df\u3067\u898b\u3089\u308c\u308b\u70b9\u5909\u7570\u3084\u91cd\u8907\u306f\u3001TPT-PS\u3060\u3051\u3067\u306a\u304f\u3001Laurin-Sandrow\u75c7\u5019\u7fa4\u3084\u5148\u5929\u6027\u591a\u6307\u75c7\u306a\u3069\u3001\u4ed6\u306e\u56db\u80a2\u5f62\u6210\u7570\u5e38\u3082\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u3057\u304b\u3057\u3001TPT-PS\u306f\u4e3b\u306b\u56db\u80a2\u306b\u9650\u5b9a\u3055\u308c\u305f\u5f62\u614b\u7570\u5e38\u3067\u3042\u308a\u3001\u5fc3\u8840\u7ba1\u75be\u60a3\u3084\u773c\u306e\u7570\u5e38\u306a\u3069\u4ed6\u306e\u81d3\u5668\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3053\u3068\u306f\u901a\u5e38\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/xp11-22-p11-23-duplication-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">Xp11.22-p11.23 \u91cd\u8907\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">Xp11.22-p11.23\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001X\u67d3\u8272\u4f53\u306ep11.22-p11.23\u9818\u57df\u306e\u91cd\u8907\u306b\u3088\u308a\u767a\u75c7\u3057\u3001\u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\u3001\u884c\u52d5\u7570\u5e38\u3001\u8eab\u4f53\u7684\u7570...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BF%83%E8%A1%80%E7%AE%A1%E7%96%BE%E6%82%A3%E3%81%A8%E7%9C%BC%E3%81%AE%E7%95%B0%E5%B8%B8%E3%82%92%E4%BC%B4%E3%81%86%E4%BE%8B%E5%A4%96%E7%9A%84%E3%81%AA%E7%97%87%E4%BE%8B\"><\/span>\u5fc3\u8840\u7ba1\u75be\u60a3\u3068\u773c\u306e\u7570\u5e38\u3092\u4f34\u3046\u4f8b\u5916\u7684\u306a\u75c7\u4f8b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8208\u5473\u6df1\u3044\u3053\u3068\u306b\u3001\u8fd1\u5e74\u3001TPT-PS\u306b\u52a0\u3048\u3066\u91cd\u7be4\u306a\u5fc3\u8840\u7ba1\u75be\u60a3\uff08Congenital Heart Disease, CHD\uff09\u3084\u773c\u306e\u7570\u5e38\u3092\u4f75\u767a\u3059\u308b\u60a3\u8005\u306e\u75c7\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3042\u308b\u5bb6\u65cf\u306e\u4e2d\u3067\u30017q36.3\u9818\u57df\u306e299 kb\u306e\u5fae\u5c0f\u91cd\u8907\u304cTPT-PS\u306e\u767a\u75c7\u3068\u95a2\u9023\u4ed8\u3051\u3089\u308c\u307e\u3057\u305f\u3002\u3053\u306e\u5fae\u5c0f\u91cd\u8907\u306f\u5bb6\u65cf\u5185\u3067TPT-PS\u3092\u767a\u75c7\u3057\u3066\u3044\u308b\u3059\u3079\u3066\u306e\u60a3\u8005\u306b\u5171\u901a\u3057\u3066\u898b\u3089\u308c\u307e\u3057\u305f\u304c\u3001CHD\uff08\u53f3\u5fc3\u5ba4\u4e8c\u91cd\u6d41\u51fa\u8def\uff09\u3084\u773c\u306e\u7570\u5e38\uff08\u5c0f\u773c\u7403\u75c7\u3068\u8996\u795e\u7d4c\u4e73\u982d\u30b3\u30ed\u30dc\u30fc\u30de\uff09\u306f\u7279\u5b9a\u306e\u60a3\u8005\u306b\u306e\u307f\u767a\u73fe\u3057\u307e\u3057\u305f\u3002\u3053\u306e\u3053\u3068\u306f\u30017q36.3\u5fae\u5c0f\u91cd\u8907\u304c\u5358\u306a\u308b\u56db\u80a2\u5f62\u6210\u7570\u5e38\u306b\u3068\u3069\u307e\u3089\u305a\u3001\u5fc3\u8840\u7ba1\u3084\u773c\u306e\u5f62\u6210\u306b\u3082\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/28020321_s.jpg\" alt=\"\u5fc3\u81d3\" class=\"wp-image-88825\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"SHH%E3%82%B7%E3%82%B0%E3%83%8A%E3%83%AB%E4%BC%9D%E9%81%94%E3%81%AE%E5%BD%B9%E5%89%B2%E3%81%A8%E3%81%9D%E3%81%AE%E5%BA%83%E7%AF%84%E3%81%AA%E5%BD%B1%E9%9F%BF\"><\/span>SHH\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306e\u5f79\u5272\u3068\u305d\u306e\u5e83\u7bc4\u306a\u5f71\u97ff<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>SHH\u907a\u4f1d\u5b50\u306e\u5f79\u5272\u306f\u56db\u80a2\u5f62\u6210\u306b\u9650\u5b9a\u3055\u308c\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u5fc3\u81d3\u306e\u767a\u751f\u3084\u773c\u306e\u767a\u9054\u306b\u3082\u91cd\u8981\u3067\u3059\u3002\u4f8b\u3048\u3070\u3001\u52d5\u7269\u5b9f\u9a13\u3067\u306f\u3001SHH\u306e\u904e\u5270\u767a\u73fe\u304c\u7b4b\u8089\u306e\u80a5\u5927\u3084\u7570\u5e38\u306a\u7d30\u80de\u5897\u6b96\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u540c\u69d8\u306b\u3001SHH\u306e\u767a\u73fe\u91cf\u3084\u30bf\u30a4\u30df\u30f3\u30b0\u304c\u4e0d\u9069\u5207\u306b\u306a\u308b\u3068\u3001\u5fc3\u81d3\u306e\u767a\u751f\u7570\u5e38\u3084\u773c\u306e\u5f62\u6210\u4e0d\u5168\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u7279\u306b\u3001SHH\u306e\u767a\u73fe\u306e\u5897\u52a0\u3084\u6e1b\u5c11\u306f\u3001\u773c\u306e\u767a\u751f\u306b\u304a\u3044\u3066\u907a\u4f1d\u5b50PAX2\u3092\u542b\u3080\u4e0b\u6d41\u306e\u907a\u4f1d\u5b50\u306b\u6df1\u523b\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%BF%BD%E5%8A%A0%E3%81%AE%E9%81%BA%E4%BC%9D%E7%9A%84%E8%A6%81%E5%9B%A0%E3%81%AE%E9%96%A2%E4%B8%8E\"><\/span>\u8ffd\u52a0\u306e\u907a\u4f1d\u7684\u8981\u56e0\u306e\u95a2\u4e0e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5bb6\u7cfb\u5185\u306e\u4ed6\u306eTPT-PS\u60a3\u8005\u306b\u306f\u5fc3\u8840\u7ba1\u3084\u773c\u306e\u7570\u5e38\u304c\u898b\u3089\u308c\u306a\u304b\u3063\u305f\u305f\u3081\u30017q36.3\u306e\u5fae\u5c0f\u91cd\u8907\u4ee5\u5916\u306e\u907a\u4f1d\u7684\u307e\u305f\u306f\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30c3\u30af\u306a\u8981\u56e0\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u3082\u793a\u5506\u3055\u308c\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001\u4ed6\u306e\u7814\u7a76\u3067\u306f\u3001TPT-PS\u3068\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u3092\u4f75\u767a\u3057\u305f\u60a3\u8005\u304c\u5831\u544a\u3055\u308c\u3001\u305d\u306e\u539f\u56e0\u306f7q36.3\u306e\u91cd\u8907\u306822q11.21\u306e\u6b20\u5931\u3068\u3044\u30462\u3064\u306e\u7570\u306a\u308b\u907a\u4f1d\u7684\u6b20\u9665\u306b\u3088\u308b\u3082\u306e\u3067\u3057\u305f\u3002\u3053\u306e\u3088\u3046\u306b\u3001\u5fae\u5c0f\u91cd\u8907\u304c\u4ed6\u306e\u907a\u4f1d\u7684\u7570\u5e38\u3068\u7d44\u307f\u5408\u308f\u3055\u308b\u3053\u3068\u3067\u3001\u8907\u96d1\u306a\u75c5\u614b\u304c\u5f62\u6210\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"480\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/26529659_s.jpg\" alt=\"SHH\" class=\"wp-image-90808\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BB%8A%E5%BE%8C%E3%81%AE%E7%A0%94%E7%A9%B6%E3%81%B8%E3%81%AE%E6%9C%9F%E5%BE%85\"><\/span>\u4eca\u5f8c\u306e\u7814\u7a76\u3078\u306e\u671f\u5f85<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u77e5\u898b\u306f\u30017q36.3\u5fae\u5c0f\u91cd\u8907\u304cTPT-PS\u306e\u4e3b\u8981\u306a\u539f\u56e0\u3067\u3042\u308b\u3060\u3051\u3067\u306a\u304f\u3001\u5fc3\u8840\u7ba1\u3084\u773c\u306e\u5f62\u6210\u7570\u5e38\u306b\u3082\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u9818\u57df\u304c\u3069\u306e\u3088\u3046\u306b\u3057\u3066SHH\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u3092\u8abf\u7bc0\u3057\u3001\u7279\u5b9a\u306e\u81d3\u5668\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u306e\u304b\u3092\u89e3\u660e\u3059\u308b\u306b\u306f\u3055\u3089\u306a\u308b\u7814\u7a76\u304c\u5fc5\u8981\u3067\u3059\u3002\u7279\u306b\u3001SHH\u306e\u767a\u73fe\u3092\u5236\u5fa1\u3059\u308b\u4ed6\u306e\u8abf\u7bc0\u56e0\u5b50\u3084\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30c3\u30af\u306a\u8981\u7d20\u306e\u7279\u5b9a\u304c\u91cd\u8981\u306a\u8ab2\u984c\u3068\u306a\u308a\u307e\u3059\u3002\u4eca\u5f8c\u306e\u7814\u7a76\u306b\u3088\u308a\u3001\u5fae\u5c0f\u91cd\u8907\u304c\u5f15\u304d\u8d77\u3053\u3059\u75be\u60a3\u306e\u591a\u69d8\u306a\u30e1\u30ab\u30cb\u30ba\u30e0\u304c\u3055\u3089\u306b\u660e\u3089\u304b\u306b\u306a\u308b\u3053\u3068\u3092\u671f\u5f85\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/2q31_1_duplication\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">2q31.1\u91cd\u8907\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066 <\/div>\n          <div class=\"blog-card-excerpt\">2q31.1\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u30012\u756a\u67d3\u8272\u4f53\u306e\u907a\u4f1d\u5b50\u91cd\u8907\u306b\u3088\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002\u767a\u9054\u9045\u5ef6\u3084\u5185\u81d3\u7570\u5e38\u304c\u7279\u5fb4\u3067\u3001\u65e9\u671f\u7642\u80b2\u3068\u533b\u7642\u7ba1\u7406\u304c\u751f\u6d3b\u306e\u8cea\u5411\u4e0a\u306b\u91cd\u8981\u3067\u3059\u3002...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\"><\/span>\u5f15\u7528\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.3892\/mmr.2016.6092\">Liu, Z., Yin, N., Gong, L., Tan, Z., Yin, B., Yang, Y., &amp; Luo, C. (2017). Microduplication of 7q36.3 encompassing the SHH long\u2011range regulator (ZRS) in a patient with triphalangeal thumb\u2011polysyndactyly syndrome and congenital heart disease. <em>Molecular medicine reports<\/em>, <em>15<\/em>(2), 793\u2013797. https:\/\/doi.org\/10.3892\/mmr.2016.6092<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ejmg.2012.04.009\">Kroeldrup, L., Kjaergaard, S., Kirchhoff, M., Kock, K., Brasch-Andersen, C., Kibaek, M., &amp; Ousager, L. B. (2012). Duplication of 7q36.3 encompassing the Sonic Hedgehog (Shh) gene is associated with congenital muscular hypertrophy. <em>European Journal of Medical Genetics<\/em>, <em>55<\/em>(10), 557\u2013560. https:\/\/doi.org\/10.1016\/j.ejmg.2012.04.009<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/srep02587\">Aleksic, B., Kushima, I., Ohye, T., Ikeda, M., Kunimoto, S., Nakamura, Y., Yoshimi, A., Koide, T., Iritani, S., Kurahashi, H., Iwata, N., &amp; Ozaki, N. (2013). Definition and refinement of the 7q36.3 duplication region associated with schizophrenia. <em>Scientific Reports<\/em>, <em>3<\/em>(1), 2587. https:\/\/doi.org\/10.1038\/srep02587<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s12920-020-00821-x\">Zlotina, A., Melnik, O., Fomicheva, Y., Skitchenko, R., Sergushichev, A., Shagimardanova, E., Gusev, O., Gazizova, G., Loevets, T., Vershinina, T., Kozyrev, I., Gordeev, M., Vasichkina, E., Pervunina, T., &amp; Kostareva, A. (2020). A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: A case report. <em>BMC Medical Genomics<\/em>, <em>13<\/em>(1), 175. https:\/\/doi.org\/10.1186\/s12920-020-00821-x<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkae974\">Perez, G., Barber, G. P., Benet-Pages, A., Casper, J., Clawson, H., Diekhans, M., Fischer, C., Gonzalez, J. N., Hinrichs, A. S., Lee, C. M., Nassar, L. R., Raney, B. J., Speir, M. L., van Baren, M. J., Vaske, C. J., Haussler, D., Kent, W. J., &amp; Haeussler, M. (2024). The UCSC Genome Browser database: 2025 update. Nucleic Acids Research, gkae974. https:\/\/doi.org\/10.1093\/nar\/gkae974<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkad1049\">Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., Bhurji, S. K., Boddu, S., Branco Lins, P. R., Brooks, L., Budhanuru Ramaraju, S., Campbell, L. I., Carbajo Martinez, M., Charkhchi, M., Chougule, K., \u2026 Yates, A. D. (2024). Ensembl 2024. Nucleic Acids Research, 52(D1), D891\u2013D899. https:\/\/doi.org\/10.1093\/nar\/gkad1049<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.nature.com\/articles\/s41586-021-03819-2\" target=\"_blank\" rel=\"noreferrer noopener\">Jumper, J <em>et al<\/em>. Highly accurate protein structure prediction with AlphaFold. <em>Nature<\/em> (2021)<\/a>.<\/li>\n\n\n\n<li><a href=\"https:\/\/academic.oup.com\/nar\/advance-article\/doi\/10.1093\/nar\/gkab1061\/6430488\" target=\"_blank\" rel=\"noreferrer noopener\">Varadi, M <em>et al<\/em>. AlphaFold Protein Structure Database: massively expanding the structural coverage of protein-sequence space with high-accuracy models. <em>Nucleic Acids Research <\/em>(2021)<\/a>.<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u30817q36.3\u306e\u5fae\u5c0f\u91cd\u8907\u306f&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q36-3-duplication-syndrome\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":90805,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[58],"tags":[33,74,43,49],"class_list":["post-83517","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genetic-disorder","tag-symptom","tag-duplication-syndrome","tag-gene","tag-genetic-disease"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83517","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/101"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=83517"}],"version-history":[{"count":13,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83517\/revisions"}],"predecessor-version":[{"id":109816,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83517\/revisions\/109816"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/90805"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=83517"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=83517"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=83517"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}