{"id":90978,"date":"2025-01-21T12:14:59","date_gmt":"2025-01-21T03:14:59","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=90978"},"modified":"2025-08-26T11:33:52","modified_gmt":"2025-08-26T02:33:52","slug":"3q29del","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/3q29del\/","title":{"rendered":"3q29\u6b20\u5931\u75c7\u5019\u7fa4\uff083q29 deletion syndrome\uff09"},"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>3q29\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u767a\u9054\u9045\u5ef6\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u7279\u5fb4\u3068\u3057\u3001\u500b\u4eba\u5dee\u306e\u3042\u308b\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002\u4e00\u65b9\u3001\u30c0\u30a4\u30e4\u30e2\u30f3\u30c9\u30fb\u30d6\u30e9\u30c3\u30af\u30d5\u30a1\u30f3\u8ca7\u88405\u578b\uff08DBA5\uff09\u306f\u8d64\u8840\u7403\u5f62\u6210\u306e\u969c\u5bb3\u306b\u3088\u308b\u8ca7\u8840\u3092\u4f34\u3044\u3001\u60aa\u6027\u816b\u760d\u306e\u30ea\u30b9\u30af\u3082\u5897\u52a0\u3057\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u3053\u308c\u3089\u306e\u75be\u60a3\u306e\u7279\u5fb4\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u6cd5\u3001\u305d\u3057\u3066\u60a3\u8005\u652f\u63f4\u306e\u91cd\u8981\u6027\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u8aac\u660e\u3057\u307e\u3059\u3002\u9069\u5207\u306a\u30b1\u30a2\u3068\u652f\u63f4\u3092\u901a\u3058\u3066\u3001\u60a3\u8005\u3068\u305d\u306e\u5bb6\u65cf\u306b\u5bc4\u308a\u6dfb\u3046\u65b9\u6cd5\u3092\u63a2\u308a\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\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/3q29del\/#%E3%81%93%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E5%BA%A7%E3%81%AB%E3%81%82%E3%82%8B%E7%96%BE%E6%82%A3%E3%81%AB%E9%96%A2%E4%B8%8E%E3%81%99%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%8C%E9%AB%98%E3%81%84%E9%81%BA%E4%BC%9D%E5%AD%90\" >\u3053\u306e\u907a\u4f1d\u5b50\u5ea7\u306b\u3042\u308b\u75be\u60a3\u306b\u95a2\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u907a\u4f1d\u5b50<\/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\/3q29del\/#%EF%BC%91_FGF12%E3%80%80%E9%81%BA%E4%BC%9D%E6%80%A7%E9%81%8B%E5%8B%95%E5%A4%B1%E8%AA%BF%E7%97%87%E3%80%81%E3%83%96%E3%83%AB%E3%82%AC%E3%83%80%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88Hereditary_Ataxia_Brugada_Syndrome%EF%BC%89\" >[\uff11_FGF12]\u3000\u907a\u4f1d\u6027\u904b\u52d5\u5931\u8abf\u75c7\u3001\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\uff08Hereditary Ataxia, Brugada Syndrome\uff09<\/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\/3q29del\/#%EF%BC%92_RPL35A%E3%80%80%E3%83%80%E3%82%A4%E3%82%A2%E3%83%A2%E3%83%B3%E3%83%89%E3%83%BB%E3%83%96%E3%83%A9%E3%83%83%E3%82%AF%E3%83%95%E3%82%A1%E3%83%B3%E8%B2%A7%E8%A1%80%EF%BC%88Diamond-Blackfan_Anemia%EF%BC%89\" >[\uff12_RPL35A]\u3000\u30c0\u30a4\u30a2\u30e2\u30f3\u30c9\u30fb\u30d6\u30e9\u30c3\u30af\u30d5\u30a1\u30f3\u8ca7\u8840\uff08Diamond-Blackfan Anemia\uff09<\/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\/3q29del\/#%E3%82%82%E3%81%A3%E3%81%A8%E7%9F%A5%E3%82%8A%E3%81%9F%E3%81%84%E6%96%B9%E3%81%B8\" >\u3082\u3063\u3068\u77e5\u308a\u305f\u3044\u65b9\u3078<\/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\/3q29del\/#%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=\"%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>3q29\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u30013\u756a\u67d3\u8272\u4f53\u306e\u7279\u5b9a\u306e\u90e8\u5206\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u975e\u5e38\u306b\u591a\u69d8\u3067\u3042\u308a\u3001\u8efd\u5ea6\u304b\u3089\u4e2d\u7a0b\u5ea6\u306e\u767a\u9054\u9045\u5ef6\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u4e00\u822c\u7684\u306b\u898b\u3089\u308c\u308b\u4e00\u65b9\u3001\u7279\u5b9a\u306e\u75c7\u72b6\u304c\u5168\u304f\u73fe\u308c\u306a\u3044\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u901a\u5e38\u3001\u3053\u306e\u72b6\u614b\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u3063\u3066\u8a3a\u65ad\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u7279\u5fb4\u3068\u3057\u3066\u306f\u3001\u767a\u8a9e\u306e\u9045\u308c\u3084\u5168\u822c\u7684\u306a\u767a\u9054\u9045\u5ef6\u306b\u52a0\u3048\u3001\u7279\u6709\u306e\u9854\u7acb\u3061\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001\u9854\u304c\u9577\u304f\u7d30\u3044\u3001\u5c0f\u3055\u306a\u982d\uff08\u5c0f\u982d\u75c7\uff09\u3001\u77ed\u3044\u4eba\u4e2d\u3001\u9ad8\u3044\u9f3b\u6881\u3001\u5927\u304d\u304f\u5f8c\u308d\u5411\u304d\u306e\u8033\u306a\u3069\u3067\u3059\u3002\u307e\u305f\u3001\u4e73\u5e7c\u5150\u671f\u306b\u306f\u6210\u9577\u4e0d\u826f\u3084\u6442\u98df\u56f0\u96e3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u7b4b\u529b\u306e\u4f4e\u4e0b\u3084\u983b\u7e41\u306a\u4e2d\u8033\u708e\u3082\u5831\u544a\u3055\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=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/29479466_s.jpg\" alt=\"hone\" class=\"wp-image-90488\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u4e00\u90e8\u306e\u5b50\u3069\u3082\u306b\u306f\u3001\u5fc3\u81d3\u306e\u5148\u5929\u6027\u7570\u5e38\uff08\u6700\u3082\u4e00\u822c\u7684\u306a\u306e\u306f\u52d5\u8108\u7ba1\u958b\u5b58\u75c7\uff09\u3001\u99ac\u8e44\u814e\u3084\u5c3f\u9053\u4e0b\u88c2\u3068\u3044\u3063\u305f\u7a00\u306a\u5148\u5929\u6027\u5947\u5f62\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u307e\u305f\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\u3084\u6ce8\u610f\u6b20\u9665\u591a\u52d5\u6027\u969c\u5bb3(<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>)\u3001\u53cc\u6975\u6027\u969c\u5bb3\u3001\u7d71\u5408\u5931\u8abf\u75c7\u306a\u3069\u306e\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3084\u7cbe\u795e\u75be\u60a3\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b20\u5931\u3057\u3066\u3044\u308b\u67d3\u8272\u4f53\u9818\u57df\u306b\u306f\u7d0420\u500b\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u305d\u306e\u591a\u304f\u304c\u8133\u306e\u767a\u9054\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u3053\u308c\u3089\u306e\u6b20\u5931\u304c\u5177\u4f53\u7684\u306b\u3069\u306e\u3088\u3046\u306b\u75c7\u72b6\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u306e\u304b\u3001\u307e\u305f\u4e00\u90e8\u306e\u60a3\u8005\u3067\u9855\u8457\u306a\u75c7\u72b6\u304c\u73fe\u308c\u306a\u3044\u7406\u7531\u306b\u3064\u3044\u3066\u306f\u3001\u672a\u3060\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u305b\u3093\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\/12\/28859874_s.jpg\" alt=\"\" class=\"wp-image-88166\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u3092\u6301\u3064\u5b50\u3069\u3082\u305f\u3061\u306f\u3001\u9069\u5fdc\u884c\u52d5\u3068\u547c\u3070\u308c\u308b\u65e5\u5e38\u751f\u6d3b\u30b9\u30ad\u30eb\u306b\u3082\u8ab2\u984c\u3092\u62b1\u3048\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u9069\u5fdc\u884c\u52d5\u306b\u306f\u3001\u4ed6\u8005\u3068\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3084\u5bb6\u4e8b\u3001\u91d1\u92ad\u7ba1\u7406\u3001\u8eab\u3060\u3057\u306a\u307f\u306e\u7dad\u6301\u3068\u3044\u3063\u305f\u30b9\u30ad\u30eb\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u7814\u7a76\u306b\u3088\u308b\u3068\u3001\u8a8d\u77e5\u80fd\u529b\u3088\u308a\u3082\u5b9f\u884c\u6a5f\u80fd\uff08\u76ee\u6a19\u8a2d\u5b9a\u3084\u554f\u984c\u89e3\u6c7a\u80fd\u529b\uff09\u304c\u9069\u5fdc\u884c\u52d5\u306b\u5927\u304d\u304f\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3067\u3001\u8868\u73fe\u529b\u306e\u3042\u308b\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306f\u6bd4\u8f03\u7684\u5f97\u610f\u3068\u3055\u308c\u308b\u4e00\u65b9\u3001\u66f8\u5b57\u80fd\u529b\u3084\u5bfe\u4eba\u95a2\u4fc2\u306e\u69cb\u7bc9\u3001\u30b9\u30c8\u30ec\u30b9\u3078\u306e\u5bfe\u51e6\u3068\u3044\u3063\u305f\u5206\u91ce\u3067\u8ab2\u984c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u65e5\u5e38\u751f\u6d3b\u30b9\u30ad\u30eb\u306b\u95a2\u3057\u3066\u3082\u3001\u5e73\u5747\u4ee5\u4e0b\u306e\u80fd\u529b\u304c\u89b3\u5bdf\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8eab\u4f53\u7684\u306a\u554f\u984c\u3068\u3057\u3066\u306f\u3001\u5fc3\u81d3\u75c5\u3084\u6d88\u5316\u5668\u7cfb\u306e\u969c\u5bb3\u304c\u983b\u7e41\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001\u5fc3\u81d3\u306b\u95a2\u3059\u308b\u554f\u984c\u306f25%\u306e\u60a3\u8005\u306b\u898b\u3089\u308c\u3001\u80c3\u98df\u9053\u9006\u6d41\u75c7\u3084\u4fbf\u79d8\u306a\u3069\u306e\u6d88\u5316\u5668\u7cfb\u306e\u75c7\u72b6\u3082\u975e\u5e38\u306b\u4e00\u822c\u7684\u3067\u3059\u3002\u307e\u305f\u3001\u983b\u7e41\u306a\u8033\u611f\u67d3\u3084\u8074\u899a\u969c\u5bb3\u304c\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3053\u3068\u3082\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=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31048631_s-1.jpg\" alt=\"\u3053\u3069\u3082\u306e\u8a3a\u65ad\" class=\"wp-image-88820\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u65e9\u671f\u4ecb\u5165\u3068\u5305\u62ec\u7684\u306a\u30b1\u30a2\u304c\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306e\u5b50\u3069\u3082\u305f\u3061\u306b\u3068\u3063\u3066\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u9069\u5fdc\u884c\u52d5\u306e\u652f\u63f4\u306b\u5f79\u7acb\u3064\u4f5c\u696d\u7642\u6cd5\u3001\u5b66\u7fd2\u652f\u63f4\u3001\u307e\u305f\u5b9f\u884c\u6a5f\u80fd\u3092\u5411\u4e0a\u3055\u305b\u308b\u305f\u3081\u306e\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\u304c\u52b9\u679c\u7684\u3067\u3059\u3002\u3055\u3089\u306b\u3001\u7cbe\u795e\u79d1\u533b\u306b\u3088\u308b\u5b9a\u671f\u7684\u306a\u8a55\u4fa1\u3084\u3001\u9069\u5207\u306a\u6cbb\u7642\u8a08\u753b\u306e\u7b56\u5b9a\u3082\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>3q29\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u5f71\u97ff\u306f\u60a3\u8005\u3054\u3068\u306b\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u7814\u7a76\u304c\u9032\u3080\u3053\u3068\u3067\u3053\u306e\u75be\u60a3\u306b\u3064\u3044\u3066\u306e\u7406\u89e3\u304c\u6df1\u307e\u308a\u3001\u3088\u308a\u52b9\u679c\u7684\u306a\u652f\u63f4\u65b9\u6cd5\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3082\u3057\u304a\u5b50\u3055\u3093\u304c\u3053\u306e\u75be\u60a3\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u533b\u7642\u5c02\u9580\u5bb6\u3068\u5354\u529b\u3057\u306a\u304c\u3089\u500b\u5225\u306e\u30cb\u30fc\u30ba\u306b\u5fdc\u3058\u305f\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\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\/17q21-31-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">17q21.31 \u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">17q21.31\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u767a\u9054\u9045\u5ef6\u3084\u77e5\u7684\u969c\u5bb3\u3001\u7279\u5b9a\u306e\u9854\u8c8c\u3084\u7b4b\u529b\u4f4e\u4e0b\u3001\u3066\u3093\u304b\u3093\u306a\u3069\u306e\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u7a00\u306a\u907a\u4f1d\u75be\u60a3\u3067\u3059\u3002\u65e9\u671f\u652f\u63f4\u304c\u751f\u6d3b\u306e\u8cea\u5411...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E5%BA%A7%E3%81%AB%E3%81%82%E3%82%8B%E7%96%BE%E6%82%A3%E3%81%AB%E9%96%A2%E4%B8%8E%E3%81%99%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%8C%E9%AB%98%E3%81%84%E9%81%BA%E4%BC%9D%E5%AD%90\"><\/span>\u3053\u306e\u907a\u4f1d\u5b50\u5ea7\u306b\u3042\u308b\u75be\u60a3\u306b\u95a2\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u907a\u4f1d\u5b50<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\/2025\/01\/24daf8b986b5a28ef0ae31a7d3ca76bb-1024x20.png\" alt=\"3q29\u3000\" class=\"wp-image-90981\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<figure class=\"wp-block-table\"><table><tbody><tr><td class=\"has-text-align-center\" data-align=\"center\"><strong>S\/N<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>\u907a\u4f1d\u5b50\u540d<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>\u95a2\u9023\u3059\u308b\u75be\u60a3\u540d<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>Associated disease name(s)<\/strong><\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff11<\/td><td class=\"has-text-align-center\" data-align=\"center\">FGF12<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u907a\u4f1d\u6027\u904b\u52d5\u5931\u8abf\u75c7\u3001\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4<\/td><td class=\"has-text-align-center\" data-align=\"center\">Hereditary Ataxia, Brugada Syndrome<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff12<\/td><td class=\"has-text-align-center\" data-align=\"center\">RPL35A<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30c0\u30a4\u30a2\u30e2\u30f3\u30c9\u30fb\u30d6\u30e9\u30c3\u30af\u30d5\u30a1\u30f3\u8ca7\u8840<\/td><td class=\"has-text-align-center\" data-align=\"center\">Diamond-Blackfan Anemia<\/td><\/tr><\/tbody><\/table><\/figure>\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\/2025\/01\/chromo3-MeHRKSUaBCcaeCCZCEAAATLL.png\" alt=\"chromo3 \" class=\"wp-image-90985\"\/><\/figure><\/div>\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=\"%EF%BC%91_FGF12%E3%80%80%E9%81%BA%E4%BC%9D%E6%80%A7%E9%81%8B%E5%8B%95%E5%A4%B1%E8%AA%BF%E7%97%87%E3%80%81%E3%83%96%E3%83%AB%E3%82%AC%E3%83%80%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88Hereditary_Ataxia_Brugada_Syndrome%EF%BC%89\"><\/span>[\uff11_FGF12]\u3000\u907a\u4f1d\u6027\u904b\u52d5\u5931\u8abf\u75c7\u3001\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\uff08Hereditary Ataxia, Brugada Syndrome\uff09<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\/2025\/01\/24daf8b986b5a28ef0ae31a7d3ca76bb-1024x20.png\" alt=\"3q29\u3000\" class=\"wp-image-90981\"\/><\/figure><\/div>\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\/2025\/01\/78edd0420e98b8fe630e867a20dc2738-1024x20.png\" alt=\"FGF12\u3000\" class=\"wp-image-90989\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u907a\u4f1d\u6027\u904b\u52d5\u5931\u8abf\uff08Hereditary Ataxia\uff09\u3068\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\uff08Brugada Syndrome\uff09\u306f\u3001\u3044\u305a\u308c\u3082\u907a\u4f1d\u7684\u8981\u56e0\u306b\u57fa\u3065\u304f\u75be\u60a3\u3067\u3001\u305d\u308c\u305e\u308c\u7570\u306a\u308b\u7279\u5fb4\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75be\u60a3\u306e\u4e00\u90e8\u306f\u30013q29\u67d3\u8272\u4f53\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308bFGF12\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u4ee5\u4e0b\u3067\u306f\u3001\u3053\u308c\u3089\u306e\u75be\u60a3\u306b\u3064\u3044\u3066\u8a73\u7d30\u306b\u8aac\u660e\u3057\u3001\u305d\u308c\u305e\u308c\u306e\u75c5\u614b\u306e\u7279\u5fb4\u3068\u6cbb\u7642\u306e\u91cd\u8981\u6027\u306b\u3064\u3044\u3066\u89e6\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u6027\u904b\u52d5\u5931\u8abf\uff08Hereditary Ataxia\uff09\u306f\u3001\u904b\u52d5\u3001\u59ff\u52e2\u3001\u30d0\u30e9\u30f3\u30b9\u3092\u8abf\u6574\u3059\u308b\u8133\u306e\u4e00\u90e8\u3067\u3042\u308b\u5c0f\u8133\u306e\u6a5f\u80fd\u969c\u5bb3\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u795e\u7d4c\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u3067\u306f\u3001\u907a\u4f1d\u7684\u8981\u56e0\u306b\u3088\u308b\u5c0f\u8133\u3084\u810a\u9ac4\u306e\u5909\u6027\u304c\u9032\u884c\u3057\u3001\u4e0d\u5b89\u5b9a\u306a\u6b69\u884c\u3084\u76ee\u3068\u624b\u306e\u5354\u8abf\u904b\u52d5\u969c\u5bb3\u3001\u69cb\u97f3\u969c\u5bb3\uff08\u767a\u8a71\u304c\u4e0d\u660e\u77ad\u306b\u306a\u308b\u3053\u3068\uff09\u304c\u4e3b\u8981\u306a\u75c7\u72b6\u3068\u3057\u3066\u73fe\u308c\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u9032\u884c\u6027\u306e\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u6642\u9593\u3068\u3068\u3082\u306b\u75c7\u72b6\u304c\u60aa\u5316\u3059\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u75c7\u6642\u306e\u4e3b\u306a\u521d\u671f\u75c7\u72b6\u306b\u306f\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u3082\u306e\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3086\u3063\u304f\u308a\u9032\u884c\u3059\u308b\u4e0d\u5b89\u5b9a\u306a\u6b69\u884c\u3067\u3001\u8ee2\u5012\u306e\u30ea\u30b9\u30af\u304c\u5897\u52a0\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3081\u307e\u3044\u3084\u30d0\u30e9\u30f3\u30b9\u611f\u899a\u306e\u55aa\u5931\uff08\u5e73\u8861\u969c\u5bb3\uff09\u3002<\/li>\n\n\n\n<li>\u624b\u3084\u6307\u306e\u4e0d\u5668\u7528\u3055\u3084\u9707\u3048\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u304c\u4e0d\u660e\u77ad\u306b\u306a\u308b\u3001\u307e\u305f\u306f\u4e88\u671f\u305b\u306c\u3080\u305b\u8fbc\u307f\u3002<\/li>\n\n\n\n<li>\u307e\u308c\u306b\u8907\u8996\uff08\u7269\u304c\u4e8c\u91cd\u306b\u898b\u3048\u308b\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/24088467_s.jpg\" alt=\"\u3053\u3051\u305f\" class=\"wp-image-91001\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u75c7\u72b6\u306f\u3001\u75b2\u52b4\u3084\u30a2\u30eb\u30b3\u30fc\u30eb\u6442\u53d6\u5f8c\u306b\u9855\u8457\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u6b21\u7b2c\u306b\u6301\u7d9a\u7684\u3068\u306a\u308a\u3001\u75c7\u72b6\u306e\u91cd\u7be4\u5316\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u795e\u7d4c\u5b66\u7684\u691c\u67fb\u3067\u306f\u3001\u5c0f\u8133\u969c\u5bb3\u306e\u5178\u578b\u7684\u306a\u5146\u5019\u3068\u3057\u3066\u3001\u5e83\u3044\u6b69\u5e45\u306e\u3075\u3089\u3064\u3044\u305f\u6b69\u884c\u3001\u5ea7\u3063\u305f\u307e\u307e\u3067\u3082\u4f53\u5e79\u304c\u4e0d\u5b89\u5b9a\u306a\u72b6\u614b\u3001\u624b\u306e\u7d30\u304b\u306a\u904b\u52d5\u304c\u56f0\u96e3\u306b\u306a\u308b\uff08\u30b8\u30b9\u30e1\u30c8\u30ea\u30a2\uff09\u306a\u3069\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u306b\u306f\u3001MRI\u3084MRS\u306a\u3069\u306e\u8133\u753b\u50cf\u691c\u67fb\u304c\u7528\u3044\u3089\u308c\u3001\u5c0f\u8133\u840e\u7e2e\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u9032\u884c\u3059\u308b\u3068\u3001\u60a3\u8005\u306f\u6b69\u884c\u88dc\u52a9\u5668\u5177\u3084\u8eca\u6905\u5b50\u306b\u983c\u3089\u3056\u308b\u3092\u5f97\u306a\u304f\u306a\u308a\u3001\u6700\u7d42\u7684\u306b\u306f\u81ea\u5df1\u7ba1\u7406\u80fd\u529b\u306e\u4f4e\u4e0b\u3001\u7a92\u606f\u3001\u8ee2\u5012\u306b\u3088\u308b\u602a\u6211\u304c\u4e3b\u8981\u306a\u554f\u984c\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u6839\u6cbb\u7684\u306a\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u5bfe\u75c7\u7642\u6cd5\u3084\u652f\u6301\u7642\u6cd5\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002\u7406\u5b66\u7642\u6cd5\u306f\u60a3\u8005\u306e\u904b\u52d5\u80fd\u529b\u306e\u7dad\u6301\u306b\u5f79\u7acb\u3061\u3001\u9707\u3048\u3084\u7b4b\u8089\u306e\u75d9\u7e2e\u3092\u7de9\u548c\u3059\u308b\u85ac\u7269\u7642\u6cd5\u3082\u6709\u52b9\u3067\u3059\u3002\u307e\u305f\u3001\u60a3\u8005\u3084\u305d\u306e\u5bb6\u65cf\u304c\u75be\u60a3\u306e\u7279\u6027\u3092\u5341\u5206\u306b\u7406\u89e3\u3059\u308b\u305f\u3081\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306f\u3001\u6cbb\u7642\u3084\u65e5\u5e38\u751f\u6d3b\u306e\u6c7a\u5b9a\u306b\u304a\u3044\u3066\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/12\/4329106_s.jpg\" alt=\"\u5927\u4e08\u592b\u305d\u3046\u3067\u3059\" class=\"wp-image-86795\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u4e00\u65b9\u3001\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\uff08Brugada Syndrome\uff09\u306f\u3001\u5fc3\u81d3\u306e\u96fb\u6c17\u7684\u4f1d\u5c0e\u7cfb\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306e\u7279\u5fb4\u7684\u306a\u5fc3\u96fb\u56f3\u6240\u898b\u3068\u3057\u3066\u3001V1\uff5eV3\u8a98\u5c0e\u306b\u304a\u3051\u308bST\u30bb\u30b0\u30e1\u30f3\u30c8\u306e\u7570\u5e38\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\u306f\u3001\u9ad8\u30ea\u30b9\u30af\u306e\u5fc3\u5ba4\u6027\u4e0d\u6574\u8108\u3092\u4f34\u3044\u3001\u7a81\u7136\u6b7b\u306e\u5371\u967a\u6027\u304c\u3042\u308b\u75be\u60a3\u3067\u3059\u3002\u4e3b\u306b\u6210\u4eba\u671f\u306b\u767a\u75c7\u3057\u307e\u3059\u304c\u3001\u4e73\u5e7c\u5150\u671f\u304b\u3089\u767a\u75c7\u3059\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7a81\u7136\u6b7b\u306e\u5e73\u5747\u5e74\u9f62\u306f\u7d0440\u6b73\u3068\u3055\u308c\u3001\u5bb6\u65cf\u6b74\u3092\u6301\u3064\u5834\u5408\u306b\u306f\u3001\u3088\u308a\u65e9\u671f\u306e\u767a\u898b\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u306f\u3001\u7279\u5fb4\u7684\u306a\u5fc3\u96fb\u56f3\u6240\u898b\u3068\u75c5\u6b74\u3001\u5bb6\u65cf\u6b74\u3092\u3082\u3068\u306b\u884c\u308f\u308c\u307e\u3059\u3002\u307e\u305f\u3001SCN5A\u306a\u3069\u306e\u95a2\u9023\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u3092\u7279\u5b9a\u3059\u308b\u3053\u3068\u3067\u3001\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u8a3a\u65ad\u304c\u53ef\u80fd\u3067\u3059\u3002\u6cbb\u7642\u3068\u3057\u3066\u306f\u3001\u610f\u8b58\u55aa\u5931\u3084\u5fc3\u505c\u6b62\u306e\u65e2\u5f80\u304c\u3042\u308b\u60a3\u8005\u306b\u690d\u8fbc\u307f\u578b\u9664\u7d30\u52d5\u5668\uff08ICD\uff09\u306e\u88c5\u7740\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u7a81\u7136\u306e\u591a\u767a\u6027\u4e0d\u6574\u8108\uff08\u96fb\u6c17\u5d50\uff09\u306b\u306f\u3001\u30a4\u30bd\u30d7\u30ed\u30c6\u30ec\u30ce\u30fc\u30eb\u304c\u6709\u52b9\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/28020321_s.jpg\" alt=\"\u5fc3\u81d3\" class=\"wp-image-88825\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30d6\u30eb\u30ac\u30c0\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u306f\u3001\u7279\u5b9a\u306e\u85ac\u5264\u3084\u9ad8\u71b1\u306a\u3069\u306e\u8a98\u767a\u56e0\u5b50\u3092\u907f\u3051\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002\u4f8b\u3048\u3070\u3001\u30b3\u30ab\u30a4\u30f3\u3084\u4e09\u74b0\u7cfb\u6297\u3046\u3064\u85ac\u3001\u7279\u5b9a\u306e\u6297\u4e0d\u6574\u8108\u85ac\u306f\u30ea\u30b9\u30af\u3092\u9ad8\u3081\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u4f7f\u7528\u3092\u907f\u3051\u308b\u3079\u304d\u3067\u3059\u3002\u307e\u305f\u3001\u5bb6\u65cf\u6b74\u306e\u3042\u308b\u4eba\u306f\u3001\u5b9a\u671f\u7684\u306a\u5fc3\u96fb\u56f3\u691c\u67fb\u3084\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u65e9\u671f\u767a\u898b\u3068\u4e88\u9632\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>FGF12\u907a\u4f1d\u5b50\u306f\u3001\u7dda\u7dad\u82bd\u7d30\u80de\u5897\u6b96\u56e0\u5b50\uff08Fibroblast Growth Factor, FGF\uff09\u30d5\u30a1\u30df\u30ea\u30fc\u306e\u4e00\u54e1\u3067\u3042\u308a\u3001\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\uff08NaV\uff09\u3068\u306e\u76f8\u4e92\u4f5c\u7528\u3092\u901a\u3058\u3066\u7d30\u80de\u306e\u8208\u596e\u6027\u3092\u8abf\u7bc0\u3057\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306f\u3001\u904b\u52d5\u5931\u8abf\u306e\u4ed6\u306b\u3001\u767a\u4f5c\u6027\u8133\u75c7\uff08DEE47\uff09\u3084\u5c0f\u5150\u671f\u767a\u75c7\u306e\u3066\u3093\u304b\u3093\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u5c0f\u982d\u75c7\u306a\u3069\u306e\u91cd\u7be4\u306a\u75c7\u72b6\u3068\u3082\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31510744_s.jpg\" alt=\"\u7d46\u5275\u818f\" class=\"wp-image-88803\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u75be\u60a3\u306b\u304a\u3044\u3066\u306f\u3001\u60a3\u8005\u81ea\u8eab\u3060\u3051\u3067\u306a\u304f\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3082\u5927\u304d\u306a\u5fc3\u7406\u7684\u8ca0\u62c5\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5c02\u9580\u7684\u306a\u533b\u7642\u3084\u5fc3\u7406\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3068\u3068\u3082\u306b\u3001\u5bb6\u65cf\u306e\u8ca0\u62c5\u3092\u8efd\u6e1b\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002\u9069\u5207\u306a\u6cbb\u7642\u3084\u4e88\u9632\u7684\u30a2\u30d7\u30ed\u30fc\u30c1\u3092\u65e9\u671f\u306b\u9032\u3081\u308b\u3053\u3068\u304c\u3001\u9577\u671f\u7684\u306a\u5065\u5eb7\u7dad\u6301\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/2q33-1_deletion_syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">2q33.1\u6b20\u5931\u75c7\u5019\u7fa4\uff082q33.1 microdeletion syndrome\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">SATB2\u95a2\u9023\u75c7\u5019\u7fa4\uff08SAS\uff09\u306f\u3001SATB2\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u308a\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001SAS\u3068\u30b0\u30e9\u30b9\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u3001\u539f...<\/div>\n      <\/div>\n    <\/a>\n\n\n\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=\"%EF%BC%92_RPL35A%E3%80%80%E3%83%80%E3%82%A4%E3%82%A2%E3%83%A2%E3%83%B3%E3%83%89%E3%83%BB%E3%83%96%E3%83%A9%E3%83%83%E3%82%AF%E3%83%95%E3%82%A1%E3%83%B3%E8%B2%A7%E8%A1%80%EF%BC%88Diamond-Blackfan_Anemia%EF%BC%89\"><\/span>[\uff12_RPL35A]\u3000\u30c0\u30a4\u30a2\u30e2\u30f3\u30c9\u30fb\u30d6\u30e9\u30c3\u30af\u30d5\u30a1\u30f3\u8ca7\u8840\uff08Diamond-Blackfan Anemia\uff09<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\/2025\/01\/24daf8b986b5a28ef0ae31a7d3ca76bb-1024x20.png\" alt=\"3q29\u3000\" class=\"wp-image-90981\"\/><\/figure><\/div>\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\/2025\/01\/592fecf6b1211c1890a1a477ae29a489-1024x20.png\" alt=\"\" class=\"wp-image-90993\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30c0\u30a4\u30e4\u30e2\u30f3\u30c9\u30fb\u30d6\u30e9\u30c3\u30af\u30d5\u30a1\u30f3\u8ca7\u88405\u578b\uff08Diamond-Blackfan Anemia 5, DBA5\uff09\u306f\u3001\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u5909\u7570\u306b\u8d77\u56e0\u3059\u308b\u7a00\u5c11\u75be\u60a3\u3067\u3001\u4e3b\u306b\u4e73\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u30013q29\u3068\u547c\u3070\u308c\u308b\u67d3\u8272\u4f53\u9818\u57df\u306b\u5b58\u5728\u3059\u308bRPL35A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002RPL35A\u907a\u4f1d\u5b50\u306f\u3001\u5927\u30ea\u30dc\u30bd\u30fc\u30e0\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u306e\u4e00\u90e8\u3092\u69cb\u6210\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8ceaeL33\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u30ea\u30dc\u30bd\u30fc\u30e0\u306f\u3001\u7d30\u80de\u5185\u3067\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u5408\u6210\u3059\u308b\u305f\u3081\u306e\u4e2d\u5fc3\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u30ea\u30dc\u6838\u30bf\u30f3\u30d1\u30af\u8cea\u8907\u5408\u4f53\u3067\u3042\u308a\u3001eL33\u306f\u7279\u306b\u9020\u8840\u7d30\u80de\uff08\u8840\u6db2\u3092\u5f62\u6210\u3059\u308b\u7d30\u80de\uff09\u306e\u5897\u6b96\u3084\u751f\u5b58\u306b\u6b20\u304b\u305b\u306a\u3044\u6210\u5206\u3067\u3059\u3002<\/p>\n\n\n\n<p>RPL35A\u907a\u4f1d\u5b50\u304c\u6b63\u5e38\u306b\u6a5f\u80fd\u3057\u306a\u3044\u5834\u5408\u3001\u5927\u30ea\u30dc\u30bd\u30fc\u30e0\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u306b\u95a2\u4e0e\u3059\u308brRNA\uff08\u30ea\u30dc\u30bd\u30fc\u30e0RNA\uff09\u306e\u51e6\u7406\u306b\u7570\u5e38\u304c\u751f\u3058\u3001\u6210\u719f\u3057\u305f\u30ea\u30dc\u30bd\u30fc\u30e0\u306e\u5f62\u6210\u304c\u6e1b\u5c11\u3057\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u7d30\u80de\u306e\u5897\u6b96\u80fd\u529b\u304c\u4f4e\u4e0b\u3057\u3001\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\uff08\u30d7\u30ed\u30b0\u30e9\u30e0\u3055\u308c\u305f\u7d30\u80de\u6b7b\uff09\u304c\u5897\u52a0\u3057\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u5f71\u97ff\u306f\u7279\u306b\u9020\u8840\u7d30\u80de\u306b\u9855\u8457\u3067\u3042\u308a\u3001DBA5\u306e\u767a\u75c7\u306b\u76f4\u63a5\u95a2\u4e0e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/12\/25056577_s.jpg\" alt=\"\" class=\"wp-image-84566\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>DBA5\u306f\u3001\u975e\u518d\u751f\u6027\u4f4e\u5f62\u6210\u6027\u8ca7\u8840\u3068\u3057\u3066\u5206\u985e\u3055\u308c\u3001\u4e73\u5150\u671f\u65e9\u671f\u306b\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u8ca7\u8840\u3068\u3057\u3066\u73fe\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u30c0\u30a4\u30e4\u30e2\u30f3\u30c9\u30fb\u30d6\u30e9\u30c3\u30af\u30d5\u30a1\u30f3\u8ca7\u8840\uff08DBA\uff09\u306f\u3001\u4e3b\u306b\u8d64\u8840\u7403\u306e\u6e1b\u5c11\u306b\u8d77\u56e0\u3059\u308b\u5927\u7403\u6027\u8ca7\u8840\u3092\u7279\u5fb4\u3068\u3057\u3001\u8d64\u82bd\u7403\uff08\u8d64\u8840\u7403\u306e\u524d\u99c6\u7d30\u80de\uff09\u306e\u6e1b\u5c11\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u3053\u306e\u75be\u60a3\u306b\u304b\u304b\u308b\u4eba\u306f\u60aa\u6027\u816b\u760d\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308a\u3001\u60a3\u8005\u306e30\uff5e40%\u306b\u306f\u4f4e\u8eab\u9577\u3084\u5148\u5929\u6027\u306e\u8eab\u4f53\u7570\u5e38\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u7570\u5e38\u306b\u306f\u3001\u982d\u84cb\u9854\u9762\u306e\u5947\u5f62\uff08\u4f8b\uff1a\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u75c7\u5019\u7fa4\u3084\u53e3\u84cb\u88c2\uff09\u3001\u6307\u306e\u7570\u5e38\u3001\u5c3f\u751f\u6b96\u5668\u306e\u7570\u5e38\u304c\u542b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>DBA\u306f\u300190%\u4ee5\u4e0a\u306e\u60a3\u8005\u306b\u304a\u3044\u3066\u751f\u5f8c1\u5e74\u4ee5\u5185\u306b\u767a\u75c7\u3057\u307e\u3059\u304c\u3001\u305d\u306e\u75c7\u72b6\u306e\u8868\u73fe\u578b\u306b\u306f\u975e\u5e38\u306b\u5e45\u304c\u3042\u308a\u307e\u3059\u3002\u8efd\u75c7\u306e\u5834\u5408\u306f\u3001\u76ee\u7acb\u305f\u306a\u3044\u8ca7\u8840\u3084\u8efd\u5ea6\u306e\u8d64\u8840\u7403\u7570\u5e38\u306e\u307f\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u91cd\u75c7\u306e\u5834\u5408\u306f\u3001\u80ce\u5150\u671f\u306b\u514d\u75ab\u6027\u3067\u306f\u306a\u3044\u80ce\u5150\u6c34\u816b\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3055\u3089\u306b\u3001DBA\u60a3\u8005\u306f\u6025\u6027\u9aa8\u9ac4\u6027\u767d\u8840\u75c5\uff08AML\uff09\u3001\u9aa8\u9ac4\u7570\u5f62\u6210\u75c7\u5019\u7fa4\uff08MDS\uff09\u3001\u304a\u3088\u3073\u9aa8\u8089\u816b\u306a\u3069\u306e\u60aa\u6027\u816b\u760d\u306e\u767a\u751f\u30ea\u30b9\u30af\u304c\u5897\u52a0\u3059\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/28046307_s.jpg\" alt=\"\u5b50\u4f9b\u306e\u5065\u5eb7\u8a3a\u65ad\" class=\"wp-image-87829\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u6cbb\u7642\u306b\u306f\u3001\u30b3\u30eb\u30c1\u30b3\u30b9\u30c6\u30ed\u30a4\u30c9\u3001\u8d64\u8840\u7403\u8f38\u8840\u3001\u305d\u3057\u3066\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\uff08HSCT\uff09\u304c\u4f7f\u7528\u3055\u308c\u307e\u3059\u3002\u7279\u306bHSCT\u306f\u3001DBA\u306e\u8840\u6db2\u306b\u95a2\u9023\u3059\u308b\u75c7\u72b6\u3092\u6839\u672c\u7684\u306b\u6cbb\u7642\u3059\u308b\u552f\u4e00\u306e\u65b9\u6cd5\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u30b9\u30c6\u30ed\u30a4\u30c9\u6cbb\u7642\u306b\u306f\u611f\u67d3\u75c7\u30ea\u30b9\u30af\u306e\u5897\u52a0\u3001\u9aa8\u5bc6\u5ea6\u4f4e\u4e0b\u3001\u6210\u9577\u969c\u5bb3\u306a\u3069\u306e\u526f\u4f5c\u7528\u304c\u4f34\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u9577\u671f\u9593\u306e\u8f38\u8840\u4f9d\u5b58\u306b\u3088\u308a\u9244\u904e\u5270\u75c7\u304c\u767a\u751f\u3059\u308b\u305f\u3081\u3001\u3053\u308c\u3092\u9632\u3050\u305f\u3081\u306b\u9244\u30ad\u30ec\u30fc\u30b7\u30e7\u30f3\u7642\u6cd5\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u60a3\u8005\u306e\u7ba1\u7406\u306b\u306f\u3001\u5b9a\u671f\u7684\u306a\u8840\u6db2\u691c\u67fb\u3084\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u9aa8\u9ac4\u691c\u67fb\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u60aa\u6027\u816b\u760d\u30ea\u30b9\u30af\u3092\u8003\u616e\u3057\u305f\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf\u3084\u304c\u3093\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u7279\u306b\u598a\u5a20\u4e2d\u306eDBA\u60a3\u8005\u306e\u5834\u5408\u3001\u80ce\u5150\u306e\u6210\u9577\u3084\u6bcd\u4f53\u306e\u8840\u6db2\u72b6\u614b\u3092\u7dbf\u5bc6\u306b\u76e3\u8996\u3059\u308b\u3053\u3068\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24156031_s.jpg\" alt=\"\u5b50\u3069\u3082\u3092\u611b\u3055\u306a\u3044\u3068\" class=\"wp-image-87708\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u975e\u5e38\u306b\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u5bb6\u65cf\u5185\u3067\u3082\u8868\u73fe\u578b\u304c\u7570\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u90e8\u306e\u60a3\u8005\u306f\u8efd\u5ea6\u306e\u8ca7\u8840\u3084\u8eab\u4f53\u7684\u7570\u5e38\u3092\u793a\u3059\u306e\u307f\u3067\u3042\u308a\u3001\u75c7\u72b6\u304c\u76ee\u7acb\u305f\u306a\u3044\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002DBA\u306e\u767a\u751f\u7387\u306f\u300110\u4e07\u4eba\u304b\u308920\u4e07\u4eba\u306b1\u4eba\u3068\u3055\u308c\u3001\u7279\u5b9a\u306e\u4eba\u7a2e\u306b\u3088\u308b\u767a\u751f\u7387\u306e\u9055\u3044\u306f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>DBA\u306e\u6cbb\u7642\u3068\u7ba1\u7406\u306b\u306f\u3001\u60a3\u8005\u672c\u4eba\u3060\u3051\u3067\u306a\u304f\u3001\u5bb6\u65cf\u3084\u533b\u7642\u63d0\u4f9b\u8005\u5168\u4f53\u306e\u5354\u529b\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u591a\u5206\u91ce\u306e\u5c02\u9580\u533b\u304b\u3089\u6210\u308b\u533b\u7642\u30c1\u30fc\u30e0\u306b\u3088\u308b\u5305\u62ec\u7684\u306a\u30b1\u30a2\u304c\u6c42\u3081\u3089\u308c\u3001\u5404\u75c7\u72b6\u3084\u5408\u4f75\u75c7\u306b\u5fdc\u3058\u305f\u67d4\u8edf\u306a\u5bfe\u5fdc\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\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=\"%E3%82%82%E3%81%A3%E3%81%A8%E7%9F%A5%E3%82%8A%E3%81%9F%E3%81%84%E6%96%B9%E3%81%B8\"><\/span>\u3082\u3063\u3068\u77e5\u308a\u305f\u3044\u65b9\u3078<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>[\u5199\u771f\u3042\u308a\u30fb\u82f1\u8a9e]\u3000<a href=\"https:\/\/rarechromo.org\/media\/information\/Chromosome%20%203\/3q29%20deletions%20and%20microdeletions%20FTNW.pdf\">\u300c3q29 deletions and microdeletions\u300d| Unique | RareChromo<\/a><\/p>\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:\/\/www.ncbi.nlm.nih.gov\/books\/NBK7047\/\">Sieff C. Diamond-Blackfan Anemia. 2009 Jun 25 [Updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK7047\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1517\/\">Brugada R, Campuzano O, Sarquella-Brugada G, et al. Brugada Syndrome. 2005 Mar 31 [Updated 2022 Aug 25]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1517\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.26508\/lsa.202302025\">Ohori, S., Miyauchi, A., Osaka, H., Lourenco, C. M., Arakaki, N., Sengoku, T., Ogata, K., Honjo, R. S., Kim, C. A., Mitsuhashi, S., Frith, M. C., Seyama, R., Tsuchida, N., Uchiyama, Y., Koshimizu, E., Hamanaka, K., Misawa, K., Miyatake, S., Mizuguchi, T., Saito, K., \u2026 Matsumoto, N. (2023). Biallelic structural variations within <em>FGF12<\/em> detected by long-read sequencing in epilepsy. <em>Life science alliance<\/em>, <em>6<\/em>(8), e202302025. https:\/\/doi.org\/10.26508\/lsa.202302025<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1138\/\">Perlman S. Hereditary Ataxia Overview. 1998 Oct 28 [Updated 2024 Sep 12]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1138\/<\/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. 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Nucleic Acids Research, 52(D1), D891\u2013D899. https:\/\/doi.org\/10.1093\/nar\/gkad1049<\/a><\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n","protected":false},"excerpt":{"rendered":"\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u30813q29\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u767a\u9054&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/3q29del\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":79,"featured_media":90349,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[394],"tags":[],"class_list":["post-90978","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized-2"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/90978","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\/79"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=90978"}],"version-history":[{"count":9,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/90978\/revisions"}],"predecessor-version":[{"id":112441,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/90978\/revisions\/112441"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/90349"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=90978"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=90978"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=90978"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}