{"id":121742,"date":"2026-01-07T16:42:26","date_gmt":"2026-01-07T07:42:26","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121742"},"modified":"2026-01-07T16:42:28","modified_gmt":"2026-01-07T07:42:28","slug":"trps2-langer-giedion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/","title":{"rendered":"\u6bdb\u9aea\u30fb\u9f3b\u30fb\u6307\u7bc0\u75c7\u5019\u7fa4II\u578b\uff08TRPS2\uff09"},"content":{"rendered":"\n<p>\u6bdb\u9aea\u30fb\u9f3b\u30fb\u6307\u7bc0\u75c7\u5019\u7fa4II\u578b\uff08Trichorhinophalangeal Syndrome Type II\uff1aTRPS2\uff09\u306f\u3001\u975e\u5e38\u306b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308a\u3001\u5225\u540d\u300c\u30e9\u30f3\u30ac\u30fc\u30fb\u30ae\u30c7\u30aa\u30f3\u75c7\u5019\u7fa4\uff08Langer-Giedion Syndrome\uff09\u300d\u3068\u3082\u547c\u3070\u308c\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u4e3b\u306b\u9aea\u306e\u6bdb\uff08\u6bdb\u9aea\uff09\u3001\u9f3b\u306e\u5f62\u72b6\u3001\u6307\u306e\u9aa8\uff08\u6307\u7bc0\uff09\u306b\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u304c\u73fe\u308c\u308b\u307b\u304b\u3001\u5168\u8eab\u306e\u9aa8\u306b\u826f\u6027\u306e\u7a81\u8d77\u304c\u3067\u304d\u308b\u300c\u591a\u767a\u6027\u5916\u9aa8\u816b\uff08\u305f\u306f\u3064\u305b\u3044\u304c\u3044\u3053\u3064\u3057\u3085\uff09\u300d\u3084\u3001\u767a\u9054\u306e\u9045\u308c\u3092\u4f34\u3046\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u8a18\u4e8b\u3067\u306f\u3001TRPS2\u306e\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3070\u304b\u308a\u306e\u3054\u5bb6\u65cf\u3084\u3001\u3053\u306e\u75be\u60a3\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u77e5\u308a\u305f\u3044\u3068\u8003\u3048\u3066\u3044\u308b\u65b9\u3005\u306b\u5411\u3051\u3066\u3001\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u305d\u3057\u3066\u65e5\u5e38\u751f\u6d3b\u3067\u306e\u7ba1\u7406\u3084\u6cbb\u7642\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\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\" 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>TRPS\u306e\u5206\u985e<\/a><\/li><\/ul><\/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\/trps2-langer-giedion-syndrome\/#2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%9A%E5%85%B7%E4%BD%93%E7%9A%84%E3%81%AA%E7%89%B9%E5%BE%B4\" >2. \u4e3b\u306a\u75c7\u72b6\uff1a\u5177\u4f53\u7684\u306a\u7279\u5fb4<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#%E2%91%A0_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E8%B2%8C%EF%BC%88%E3%81%8C%E3%82%93%E3%81%BC%E3%81%86%EF%BC%89%E3%81%A8%E6%AF%9B%E9%AB%AA\" >\u2460 \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08\u304c\u3093\u307c\u3046\uff09\u3068\u6bdb\u9aea<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#%E2%91%A3_%E7%9F%A5%E8%83%BD%E3%81%8A%E3%82%88%E3%81%B3%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C\" >\u2463 \u77e5\u80fd\u304a\u3088\u3073\u767a\u9054\u306e\u9045\u308c<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#%E2%91%A4_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E9%9A%8F%E4%BC%B4%E7%97%87%E7%8A%B6\" >\u2464 \u305d\u306e\u4ed6\u306e\u968f\u4f34\u75c7\u72b6<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#3_%E5%8E%9F%E5%9B%A0%EF%BC%9A%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0\" >3. \u539f\u56e0\uff1a\u907a\u4f1d\u5b50\u3068\u67d3\u8272\u4f53\u306e\u30e1\u30ab\u30cb\u30ba\u30e0<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#%E6%AC%A0%E5%A4%B1%E3%81%AE%E5%BD%B1%E9%9F%BF%E3%82%92%E5%8F%97%E3%81%91%E3%82%8B2%E3%81%A4%E3%81%AE%E4%B8%BB%E8%A6%81%E3%81%AA%E9%81%BA%E4%BC%9D%E5%AD%90\" >\u6b20\u5931\u306e\u5f71\u97ff\u3092\u53d7\u3051\u308b2\u3064\u306e\u4e3b\u8981\u306a\u907a\u4f1d\u5b50<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#%E3%81%AA%E3%81%9C%E6%AC%A0%E5%A4%B1%E3%81%8C%E8%B5%B7%E3%81%93%E3%82%8B%E3%81%AE%E3%81%8B\" >\u306a\u305c\u6b20\u5931\u304c\u8d77\u3053\u308b\u306e\u304b<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#4_%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\" >4. \u8a3a\u65ad\u3068\u691c\u67fb<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#%E2%91%A0_%E8%87%A8%E5%BA%8A%E8%A8%BA%E5%AF%9F\" >\u2460 \u81e8\u5e8a\u8a3a\u5bdf<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#%E2%91%A1_%E7%94%BB%E5%83%8F%E8%A8%BA%E6%96%AD%EF%BC%88%E3%83%AC%E3%83%B3%E3%83%88%E3%82%B2%E3%83%B3%E3%83%BBCT%E3%83%BBMRI%EF%BC%89\" >\u2461 \u753b\u50cf\u8a3a\u65ad\uff08\u30ec\u30f3\u30c8\u30b2\u30f3\u30fbCT\u30fbMRI\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#%E2%91%A2_%E9%81%BA%E4%BC%9D%E5%AD%90%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\" >\u2462 \u907a\u4f1d\u5b50\u5b66\u7684\u691c\u67fb<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#5_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E5%A4%9A%E8%81%B7%E7%A8%AE%E3%81%AB%E3%82%88%E3%82%8B%E9%95%B7%E6%9C%9F%E7%9A%84%E3%81%AA%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >5. \u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u591a\u8077\u7a2e\u306b\u3088\u308b\u9577\u671f\u7684\u306a\u30b5\u30dd\u30fc\u30c8<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E7%9A%84%E3%81%AA%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\" >\u6574\u5f62\u5916\u79d1\u7684\u306a\u30a2\u30d7\u30ed\u30fc\u30c1<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#%E7%99%BA%E9%81%94%E3%81%8A%E3%82%88%E3%81%B3%E6%95%99%E8%82%B2%E7%9A%84%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >\u767a\u9054\u304a\u3088\u3073\u6559\u80b2\u7684\u30b5\u30dd\u30fc\u30c8<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%B0%82%E9%96%80%E7%A7%91%E3%81%AB%E3%82%88%E3%82%8B%E3%82%B1%E3%82%A2\" >\u305d\u306e\u4ed6\u306e\u5c02\u9580\u79d1\u306b\u3088\u308b\u30b1\u30a2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#%E6%B3%A8%E6%84%8F%E3%81%99%E3%81%B9%E3%81%8D%E7%82%B9%EF%BC%9A%E6%82%AA%E6%80%A7%E5%8C%96%E3%81%AE%E7%9B%A3%E8%A6%96\" >\u6ce8\u610f\u3059\u3079\u304d\u70b9\uff1a\u60aa\u6027\u5316\u306e\u76e3\u8996<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#6_%E3%81%BE%E3%81%A8%E3%82%81\" >6. \u307e\u3068\u3081<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#7_%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\" >7. \u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#%E6%97%A5%E5%B8%B8%E7%94%9F%E6%B4%BB%E3%81%A7%E5%BF%83%E3%81%8C%E3%81%91%E3%81%9F%E3%81%84%E3%81%93%E3%81%A8\" >\u65e5\u5e38\u751f\u6d3b\u3067\u5fc3\u304c\u3051\u305f\u3044\u3053\u3068<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span><strong>1. \u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>TRPS2\u306f\u3001\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5931\u308f\u308c\u308b\u3053\u3068\uff08\u6b20\u5931\uff09\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff08\u308a\u3093\u305b\u3064\u3044\u3067\u3093\u3057\u3057\u3087\u3046\u3053\u3046\u3050\u3093\uff09\u300d\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d\u3068\u306f\u3001\u67d3\u8272\u4f53\u4e0a\u3067\u96a3\u308a\u5408\u3063\u3066\u3044\u308b\u8907\u6570\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u307e\u3068\u3081\u3066\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u3001\u305d\u308c\u305e\u308c\u306e\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u308b\u75c7\u72b6\u304c\u8907\u5408\u7684\u306b\u73fe\u308c\u308b\u75c5\u614b\u3092\u6307\u3057\u307e\u3059\u3002TRPS2\u306e\u5834\u5408\u3001\u7b2c8\u756a\u67d3\u8272\u4f53\u306e\u3042\u308b\u7279\u5b9a\u306e\u9818\u57df\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u3001\u9aa8\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3084\u6bdb\u9aea\u306e\u6210\u9577\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u304c\u6a5f\u80fd\u3057\u306a\u304f\u306a\u308a\u3001\u5168\u8eab\u306b\u3055\u307e\u3056\u307e\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"TRPS%E3%81%AE%E5%88%86%E9%A1%9E\"><\/span><strong>TRPS\u306e\u5206\u985e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6bdb\u9aea\u30fb\u9f3b\u30fb\u6307\u7bc0\u75c7\u5019\u7fa4\uff08TRPS\uff09\u306b\u306f\u3001\u4e3b\u306bI\u578b\u3001II\u578b\u3001III\u578b\u306e3\u3064\u306e\u30bf\u30a4\u30d7\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>I\u578b\uff08TRPS1\uff09\uff1a<\/strong> TRPS1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3084\u6b20\u5931\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u307e\u3059\u3002\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3084\u6bdb\u9aea\u306e\u7570\u5e38\u3001\u6307\u306e\u9aa8\u306e\u5909\u5316\u304c\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u591a\u767a\u6027\u5916\u9aa8\u816b\u3084\u91cd\u5ea6\u306e\u77e5\u7684\u306a\u9045\u308c\u306f\u898b\u3089\u308c\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>II\u578b\uff08TRPS2\uff09\uff1a<\/strong> \u672c\u8a18\u4e8b\u3067\u89e3\u8aac\u3059\u308b\u30bf\u30a4\u30d7\u3067\u3059\u3002TRPS1\u907a\u4f1d\u5b50\u3068\u3001\u305d\u306e\u96a3\u306b\u3042\u308bEXT1\u907a\u4f1d\u5b50\u306e\u4e21\u65b9\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002I\u578b\u306e\u75c7\u72b6\u306b\u52a0\u3048\u3066\u3001\u591a\u767a\u6027\u5916\u9aa8\u816b\u3068\u767a\u9054\u306e\u9045\u308c\u304c\u52a0\u308f\u308b\u306e\u304c\u5927\u304d\u306a\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>III\u578b\uff08TRPS3\uff09\uff1a<\/strong> TRPS1\u907a\u4f1d\u5b50\u5185\u306e\u7279\u5b9a\u306e\u5909\u7570\u306b\u3088\u308a\u3001I\u578b\u3088\u308a\u3082\u6307\u306e\u77ed\u7e2e\u3084\u4f4e\u8eab\u9577\u304c\u5f37\u304f\u73fe\u308c\u308b\u30bf\u30a4\u30d7\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>TRPS2\u306f\u3001\u3053\u308c\u3089\u306e\u4e2d\u3067\u3082\u6700\u3082\u75c7\u72b6\u304c\u591a\u5c90\u306b\u308f\u305f\u308b\u30bf\u30a4\u30d7\u3068\u8a00\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%9A%E5%85%B7%E4%BD%93%E7%9A%84%E3%81%AA%E7%89%B9%E5%BE%B4\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6\uff1a\u5177\u4f53\u7684\u306a\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>TRPS2\u306e\u75c7\u72b6\u306f\u3001\u8eab\u4f53\u306e\u591a\u304f\u306e\u90e8\u4f4d\u306b\u73fe\u308c\u307e\u3059\u3002\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4e3b\u306a\u7279\u5fb4\u3092\u90e8\u4f4d\u5225\u306b\u8a73\u3057\u304f\u898b\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E8%B2%8C%EF%BC%88%E3%81%8C%E3%82%93%E3%81%BC%E3%81%86%EF%BC%89%E3%81%A8%E6%AF%9B%E9%AB%AA\"><\/span><strong>\u2460 \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08\u304c\u3093\u307c\u3046\uff09\u3068\u6bdb\u9aea<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9854\u7acb\u3061\u306b\u306f\u3001\u5171\u901a\u3057\u3066\u898b\u3089\u308c\u308b\u3044\u304f\u3064\u304b\u306e\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u300cTRPS\u9854\u8c8c\u300d\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9f3b\u306e\u5f62\uff08\u68a8\u72b6\u9f3b\uff09\uff1a<\/strong> \u9f3b\u5148\u304c\u3075\u3063\u304f\u3089\u3068\u4e38\u304f\u3001\u68a8\u306e\u3088\u3046\u306a\u5f62\u3092\u3057\u3066\u3044\u308b\u306e\u304c\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002\u9f3b\u7ffc\uff08\u5c0f\u9f3b\uff09\u304c\u4f4e\u5f62\u6210\uff08\u5341\u5206\u306b\u767a\u9054\u3057\u3066\u3044\u306a\u3044\uff09\u3067\u3001\u9f3b\u306e\u4e0b\u306e\u6e9d\uff08\u4eba\u4e2d\uff09\u304c\u9577\u304f\u3001\u5e73\u3089\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6bdb\u9aea\u306e\u7570\u5e38\uff1a<\/strong> \u751f\u307e\u308c\u305f\u3068\u304d\u304b\u3089\u3001\u3042\u308b\u3044\u306f\u4e73\u5e7c\u5150\u671f\u304b\u3089\u9aea\u306e\u6bdb\u304c\u975e\u5e38\u306b\u7d30\u304f\u3001\u307e\u3070\u3089\u3067\u3001\u6210\u9577\u304c\u9045\u3044\uff08\u4f38\u3073\u306b\u304f\u3044\uff09\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002\u307e\u305f\u3001\u7709\u6bdb\u306e\u5916\u5074\u304c\u8584\u304f\u306a\u308b\u3053\u3068\u3082\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e0a\u5507\u3068\u8033\uff1a<\/strong> \u4e0a\u5507\u304c\u975e\u5e38\u306b\u8584\u304f\u3001\u8033\u304c\u5927\u304d\u304f\u7a81\u51fa\u3057\u3066\u898b\u3048\u308b\uff08\u7acb\u3061\u8033\uff09\u3001\u3042\u308b\u3044\u306f\u4f4d\u7f6e\u304c\u5c11\u3057\u4f4e\u304f\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E9%AA%A8%E6%A0%BC%E3%81%8A%E3%82%88%E3%81%B3%E6%8C%87%E3%81%AE%E7%95%B0%E5%B8%B8\"><\/span><strong>\u2461 \u9aa8\u683c\u304a\u3088\u3073\u6307\u306e\u7570\u5e38<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u300c\u6307\u7bc0\uff08\u3057\u305b\u3064\uff09\u300d\u3068\u3044\u3046\u540d\u524d\u304c\u793a\u3059\u901a\u308a\u3001\u6307\u306e\u9aa8\u306b\u9855\u8457\u306a\u5909\u5316\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5186\u9310\u5f62\u9aa8\u7aef\uff08\u3048\u3093\u3059\u3044\u3051\u3044\u3053\u3063\u305f\u3093\uff09\uff1a<\/strong> \u624b\u306e\u6307\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\u691c\u67fb\u3067\u898b\u3089\u308c\u308b\u3001\u3053\u306e\u75be\u60a3\u306b\u7279\u6709\u306e\u6240\u898b\u3067\u3059\u3002\u6307\u306e\u95a2\u7bc0\u90e8\u5206\u306b\u3042\u308b\u6210\u9577\u30d7\u30ec\u30fc\u30c8\uff08\u9aa8\u7aef\uff09\u304c\u3001\u901a\u5e38\u306e\u5e73\u3089\u306a\u5f62\u3067\u306f\u306a\u304f\u3001\u5186\u9310\u5f62\uff08\u30a2\u30a4\u30b9\u30af\u30ea\u30fc\u30e0\u306e\u30b3\u30fc\u30f3\u306e\u3088\u3046\u306a\u5f62\uff09\u3092\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u6307\u306e\u95a2\u7bc0\u304c\u592a\u304f\u898b\u3048\u305f\u308a\u3001\u6307\u304c\u66f2\u304c\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6307\u306e\u77ed\u7e2e\uff1a<\/strong> \u7279\u306b\u624b\u306e\u6307\u304c\u5168\u4f53\u7684\u306b\u77ed\u304f\u306a\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u7279\u5b9a\u306e\u6307\uff08\u4eba\u5dee\u3057\u6307\u3084\u4e2d\u6307\u306a\u3069\uff09\u304c\u6a2a\u306b\u66f2\u304c\u3063\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u8eab\u9577\uff1a<\/strong> \u6210\u9577\u30db\u30eb\u30e2\u30f3\u306e\u5206\u6ccc\u306f\u6b63\u5e38\u306a\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u9aa8\u81ea\u4f53\u306e\u6210\u9577\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u305f\u3081\u3001\u6700\u7d42\u7684\u306a\u8eab\u9577\u304c\u4f4e\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E5%A4%9A%E7%99%BA%E6%80%A7%E5%A4%96%E9%AA%A8%E8%85%AB%EF%BC%88%E3%81%9F%E3%81%AF%E3%81%A4%E3%81%9B%E3%81%84%E3%81%8C%E3%81%84%E3%81%93%E3%81%A4%E3%81%97%E3%82%85%EF%BC%89\"><\/span><strong>\u2462 \u591a\u767a\u6027\u5916\u9aa8\u816b\uff08\u305f\u306f\u3064\u305b\u3044\u304c\u3044\u3053\u3064\u3057\u3085\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>TRPS2\u3092\u4ed6\u306eTRPS\u3068\u533a\u5225\u3059\u308b\u6700\u3082\u91cd\u8981\u306a\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5916\u9aa8\u816b\u3068\u306f\uff1a<\/strong> \u9aa8\u306e\u8868\u9762\u304b\u3089\u5916\u5074\u306b\u5411\u304b\u3063\u3066\u7a81\u304d\u51fa\u3057\u3066\u304f\u308b\u3001\u826f\u6027\u306e\u9aa8\u306e\u3053\u3076\uff08\u7a81\u8d77\uff09\u306e\u3053\u3068\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u51fa\u73fe\u90e8\u4f4d\uff1a<\/strong> \u8155\u306e\u9aa8\uff08\u5c3a\u9aa8\u3084\u6a48\u9aa8\uff09\u3001\u8db3\u306e\u9aa8\uff08\u5927\u817f\u9aa8\u3084\u811b\u9aa8\uff09\u3001\u808b\u9aa8\u3001\u80a9\u7532\u9aa8\u306a\u3069\u306b\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f71\u97ff\uff1a<\/strong> \u3053\u3076\u304c\u5927\u304d\u304f\u306a\u308b\u3068\u3001\u8fd1\u304f\u306e\u8840\u7ba1\u3084\u795e\u7d4c\u3092\u5727\u8feb\u3057\u3066\u75db\u307f\u3092\u751f\u3058\u305f\u308a\u3001\u95a2\u7bc0\u306e\u53ef\u52d5\u57df\uff08\u52d5\u304b\u305b\u308b\u7bc4\u56f2\uff09\u3092\u5236\u9650\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u9aa8\u306e\u6210\u9577\u3092\u59a8\u3052\u3001\u56db\u80a2\u306e\u9577\u3055\u304c\u5de6\u53f3\u3067\u7570\u306a\u3063\u305f\u308a\u3001\u9aa8\u304c\u5909\u5f62\u3057\u305f\u308a\u3059\u308b\u539f\u56e0\u306b\u3082\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A3_%E7%9F%A5%E8%83%BD%E3%81%8A%E3%82%88%E3%81%B3%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C\"><\/span><strong>\u2463 \u77e5\u80fd\u304a\u3088\u3073\u767a\u9054\u306e\u9045\u308c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>TRPS2\u306e\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u3067\u3001\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u306a\u767a\u9054\uff1a<\/strong> \u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u5b66\u7fd2\u9762\u3067\u306e\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u304c\u3042\u308c\u3070\u3001\u591a\u304f\u306e\u3053\u3068\u3092\u7fd2\u5f97\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u306e\u9045\u308c\uff1a<\/strong> \u8a00\u8449\u306e\u51fa\u59cb\u3081\u304c\u9045\u3044\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u3053\u308c\u306f\u77e5\u7684\u306a\u767a\u9054\u3060\u3051\u3067\u306a\u304f\u3001\u5f8c\u8ff0\u3059\u308b\u8074\u899a\u306e\u554f\u984c\u304c\u5f71\u97ff\u3057\u3066\u3044\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\uff1a<\/strong> \u7b4b\u8089\u306e\u5f35\u308a\uff08\u7b4b\u7dca\u5f35\uff09\u304c\u5f31\u3044\u300c\u4f4e\u7dca\u5f35\u300d\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u6b69\u304d\u59cb\u3081\u304c\u5c11\u3057\u9045\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A4_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E9%9A%8F%E4%BC%B4%E7%97%87%E7%8A%B6\"><\/span><strong>\u2464 \u305d\u306e\u4ed6\u306e\u968f\u4f34\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8074\u899a\u969c\u5bb3\uff1a<\/strong> \u6162\u6027\u7684\u306a\u4e2d\u8033\u708e\u3092\u7e70\u308a\u8fd4\u3057\u3084\u3059\u304f\u3001\u305d\u308c\u304c\u539f\u56e0\u3067\u4f1d\u97f3\u96e3\u8074\uff08\u97f3\u304c\u4f1d\u308f\u308a\u306b\u304f\u304f\u306a\u308b\u96e3\u8074\uff09\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u4e00\u90e8\u3067\u306f\u795e\u7d4c\u6027\u306e\u96e3\u8074\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u76ae\u819a\u306e\u904e\u4f38\u5c55\uff1a<\/strong> \u76ae\u819a\u304c\u975e\u5e38\u306b\u67d4\u3089\u304b\u304f\u3001\u30b4\u30e0\u306e\u3088\u3046\u306b\u3073\u3088\u3093\u3068\u4f38\u3073\u3084\u3059\u3044\u6027\u8cea\u3092\u6301\u3064\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u7684\u554f\u984c\uff1a<\/strong> \u6c38\u4e45\u6b6f\u306e\u6b20\u640d\uff08\u6700\u521d\u304b\u3089\u751f\u3048\u3066\u3053\u306a\u3044\uff09\u3001\u6b6f\u4e26\u3073\u306e\u7570\u5e38\u3001\u904e\u5270\u6b6f\uff08\u4f59\u5206\u306a\u6b6f\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E5%8E%9F%E5%9B%A0%EF%BC%9A%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0\"><\/span><strong>3. \u539f\u56e0\uff1a\u907a\u4f1d\u5b50\u3068\u67d3\u8272\u4f53\u306e\u30e1\u30ab\u30cb\u30ba\u30e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>TRPS2\u306e\u539f\u56e0\u306f\u3001<strong>\u7b2c8\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u9818\u57df\uff088q23.3-q24.13\uff09\u306e\u5fae\u7d30\u306a\u6b20\u5931<\/strong>\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AC%A0%E5%A4%B1%E3%81%AE%E5%BD%B1%E9%9F%BF%E3%82%92%E5%8F%97%E3%81%91%E3%82%8B2%E3%81%A4%E3%81%AE%E4%B8%BB%E8%A6%81%E3%81%AA%E9%81%BA%E4%BC%9D%E5%AD%90\"><\/span><strong>\u6b20\u5931\u306e\u5f71\u97ff\u3092\u53d7\u3051\u308b2\u3064\u306e\u4e3b\u8981\u306a\u907a\u4f1d\u5b50<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u6b20\u5931\u9818\u57df\u306b\u306f\u3001\u9aa8\u3084\u8edf\u9aa8\u3001\u6bdb\u9aea\u306e\u5f62\u6210\u306b\u4e0d\u53ef\u6b20\u306a2\u3064\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>TRPS1\u907a\u4f1d\u5b50\uff1a<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u8a2d\u8a08\u56f3\u3068\u3057\u3066\u50cd\u304d\u3001\u4ed6\u306e\u591a\u304f\u306e\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u5236\u5fa1\u3057\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u3001\u8edf\u9aa8\u7d30\u80de\u306e\u5897\u6b96\u3084\u6bdb\u5305\uff08\u9aea\u306e\u6bdb\u306e\u6839\u5143\uff09\u306e\u767a\u9054\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u3001\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3001\u8584\u3044\u6bdb\u9aea\u3001\u6307\u306e\u5186\u9310\u5f62\u9aa8\u7aef\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>EXT1\u907a\u4f1d\u5b50\uff1a<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u30d8\u30d1\u30e9\u30f3\u786b\u9178\u3068\u3044\u3046\u7269\u8cea\u3092\u4f5c\u308b\u9175\u7d20\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u30d8\u30d1\u30e9\u30f3\u786b\u9178\u306f\u9aa8\u306e\u6210\u9577\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u304a\u308a\u3001EXT1\u907a\u4f1d\u5b50\u304c\u6b20\u640d\u3059\u308b\u3068\u3001\u9aa8\u306e\u6210\u9577\u304c\u5236\u5fa1\u4e0d\u80fd\u306b\u306a\u308a\u3001\u3042\u3061\u3053\u3061\u306b\u4f59\u5206\u306a\u9aa8\u306e\u7a81\u8d77\uff08\u5916\u9aa8\u816b\uff09\u304c\u3067\u304d\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%AA%E3%81%9C%E6%AC%A0%E5%A4%B1%E3%81%8C%E8%B5%B7%E3%81%93%E3%82%8B%E3%81%AE%E3%81%8B\"><\/span><strong>\u306a\u305c\u6b20\u5931\u304c\u8d77\u3053\u308b\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>TRPS2\u306e\u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u306f\u3001\u300c\u5b64\u767a\u4f8b\uff08\u3053\u306f\u3064\u308c\u3044\uff09\u300d\u3068\u547c\u3070\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u3054\u4e21\u89aa\u304b\u3089\u907a\u4f1d\u3057\u305f\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5375\u304c\u5206\u5272\u3059\u308b\u3054\u304f\u521d\u671f\u306e\u6bb5\u968e\u3067\u3001\u5076\u7136\u306b\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u3066\u3057\u307e\u3063\u305f\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u4e21\u89aa\u304c\u300c\u81ea\u5206\u305f\u3061\u306e\u305b\u3044\u3067\u306f\u306a\u3044\u304b\u300d\u3068\u8cac\u4efb\u3092\u611f\u3058\u308b\u5fc5\u8981\u306f\u5168\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u3053\u308c\u306f\u3001\u8ab0\u306e\u8eab\u306b\u3082\u8d77\u3053\u308a\u3046\u308b\u5076\u767a\u7684\u306a\u73fe\u8c61\u3067\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>4. \u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>TRPS2\u306e\u8a3a\u65ad\u306f\u3001\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u306e\u89b3\u5bdf\uff08\u81e8\u5e8a\u8a3a\u65ad\uff09\u3068\u3001\u305d\u308c\u3092\u88cf\u4ed8\u3051\u308b\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08\u78ba\u5b9a\u8a3a\u65ad\uff09\u306e\u6d41\u308c\u3067\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E8%87%A8%E5%BA%8A%E8%A8%BA%E5%AF%9F\"><\/span><strong>\u2460 \u81e8\u5e8a\u8a3a\u5bdf<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u533b\u5e2b\u306f\u304a\u5b50\u3055\u3093\u306e\u9854\u7acb\u3061\u3001\u6bdb\u9aea\u306e\u5bc6\u5ea6\u3001\u6307\u306e\u5f62\u3001\u9aa8\u306e\u3053\u3076\u306e\u6709\u7121\u3092\u8a73\u3057\u304f\u8a3a\u5bdf\u3057\u307e\u3059\u3002\u68a8\u72b6\u9f3b\u3001\u8584\u3044\u6bdb\u9aea\u3001\u6307\u306e\u5909\u5f62\u306e3\u3064\u304c\u63c3\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u5c02\u9580\u533b\u306fTRPS\u3092\u7591\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E7%94%BB%E5%83%8F%E8%A8%BA%E6%96%AD%EF%BC%88%E3%83%AC%E3%83%B3%E3%83%88%E3%82%B2%E3%83%B3%E3%83%BBCT%E3%83%BBMRI%EF%BC%89\"><\/span><strong>\u2461 \u753b\u50cf\u8a3a\u65ad\uff08\u30ec\u30f3\u30c8\u30b2\u30f3\u30fbCT\u30fbMRI\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u624b\u306e\u30a8\u30c3\u30af\u30b9\u7dda\uff08\u30ec\u30f3\u30c8\u30b2\u30f3\uff09\uff1a<\/strong> \u6307\u306e\u300c\u5186\u9310\u5f62\u9aa8\u7aef\u300d\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u5fc5\u9808\u306e\u691c\u67fb\u3067\u3059\u3002\u3053\u308c\u306f\u4e73\u5e7c\u5150\u671f\uff08\u901a\u5e382\u6b73\u4ee5\u964d\uff09\u306b\u306a\u3089\u306a\u3044\u3068\u306f\u3063\u304d\u308a\u73fe\u308c\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5168\u8eab\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\uff1a<\/strong> \u591a\u767a\u6027\u5916\u9aa8\u816b\u304c\u3069\u3053\u306b\u3001\u3069\u306e\u7a0b\u5ea6\u3042\u308b\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>MRI\u30fbCT\uff1a<\/strong> \u5916\u9aa8\u816b\u304c\u795e\u7d4c\u3084\u8840\u7ba1\u3092\u5727\u8feb\u3057\u3066\u3044\u308b\u7591\u3044\u304c\u3042\u308b\u5834\u5408\u306b\u3001\u3088\u308a\u8a73\u7d30\u306a\u4f4d\u7f6e\u95a2\u4fc2\u3092\u628a\u63e1\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E9%81%BA%E4%BC%9D%E5%AD%90%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u2462 \u907a\u4f1d\u5b50\u5b66\u7684\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8840\u6db2\u691c\u67fb\u306b\u3088\u3063\u3066\u3001\u67d3\u8272\u4f53\u306e\u72b6\u614b\u3092\u8a73\u3057\u304f\u8abf\u3079\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\uff1a<\/strong> \u73fe\u5728\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff08\u6a19\u6e96\u7684\u306a\u65b9\u6cd5\uff09\u3067\u3059\u3002\u67d3\u8272\u4f53\u306e\u975e\u5e38\u306b\u7d30\u304b\u3044\u6b20\u5931\u3084\u91cd\u8907\u3092\u691c\u51fa\u3067\u304d\u308b\u691c\u67fb\u3067\u3001\u7b2c8\u756a\u67d3\u8272\u4f53\u306e\u3069\u306e\u7bc4\u56f2\u304c\u6b20\u3051\u3066\u3044\u308b\u304b\u3092\u6b63\u78ba\u306b\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>FISH\u6cd5\uff08\u30d5\u30a3\u30c3\u30b7\u30e5\u6cd5\uff09\uff1a<\/strong> \u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u90e8\u4f4d\u306b\u5149\u308b\u76ee\u5370\uff08\u30d7\u30ed\u30fc\u30d6\uff09\u3092\u304f\u3063\u3064\u3051\u3066\u3001\u6b20\u5931\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u3092\u78ba\u8a8d\u3059\u308b\u65b9\u6cd5\u3067\u3059\u3002\u7279\u5b9a\u306e\u90e8\u4f4d\u306b\u72d9\u3044\u3092\u7d5e\u3063\u3066\u8abf\u3079\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E5%A4%9A%E8%81%B7%E7%A8%AE%E3%81%AB%E3%82%88%E3%82%8B%E9%95%B7%E6%9C%9F%E7%9A%84%E3%81%AA%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span><strong>5. \u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u591a\u8077\u7a2e\u306b\u3088\u308b\u9577\u671f\u7684\u306a\u30b5\u30dd\u30fc\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>TRPS2\u305d\u306e\u3082\u306e\u3092\u6839\u672c\u7684\u306b\u6cbb\u3059\u3001\u3064\u307e\u308a\u6b20\u640d\u3057\u305f\u907a\u4f1d\u5b50\u3092\u5143\u306b\u623b\u3059\u6cbb\u7642\u6cd5\u306f\u73fe\u5728\u306e\u533b\u5b66\u3067\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u3001\u6cbb\u7642\u306e\u76ee\u7684\u306f\u300c\u73fe\u308c\u3066\u3044\u308b\u75c7\u72b6\u3078\u306e\u5bfe\u51e6\uff08\u5bfe\u75c7\u7642\u6cd5\uff09\u300d\u3068\u300c\u5408\u4f75\u75c7\u306e\u4e88\u9632\u300d\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E7%9A%84%E3%81%AA%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\"><\/span><strong>\u6574\u5f62\u5916\u79d1\u7684\u306a\u30a2\u30d7\u30ed\u30fc\u30c1<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>TRPS2\u306b\u304a\u3044\u3066\u6700\u3082\u7d99\u7d9a\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u304c\u5fc5\u8981\u306a\u306e\u304c\u6574\u5f62\u5916\u79d1\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5916\u9aa8\u816b\u306e\u7d4c\u904e\u89b3\u5bdf\uff1a<\/strong> \u75db\u307f\u304c\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u904b\u52d5\u3092\u59a8\u3052\u306a\u3044\u5916\u9aa8\u816b\u306b\u3064\u3044\u3066\u306f\u3001\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf\u3068\u30ec\u30f3\u30c8\u30b2\u30f3\u3067\u5927\u304d\u3055\u3092\u78ba\u8a8d\u3059\u308b\u306b\u3068\u3069\u3081\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u624b\u8853\uff08\u5207\u9664\u8853\uff09\uff1a<\/strong> \u4ee5\u4e0b\u306e\u5834\u5408\u306f\u624b\u8853\u3067\u5916\u9aa8\u816b\u3092\u53d6\u308a\u9664\u304f\u3053\u3068\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002\n<ul class=\"wp-block-list\">\n<li>\u6fc0\u3057\u3044\u75db\u307f\u304c\u3042\u308b\u3002<\/li>\n\n\n\n<li>\u795e\u7d4c\u3092\u5727\u8feb\u3057\u3066\u75fa\u308c\u3084\u9ebb\u75fa\u304c\u3042\u308b\u3002<\/li>\n\n\n\n<li>\u95a2\u7bc0\u304c\u52d5\u304b\u306a\u304f\u306a\u308b\u3002<\/li>\n\n\n\n<li>\u9aa8\u306e\u5909\u5f62\u304c\u5f37\u304f\u3001\u6b69\u884c\u306a\u3069\u306e\u65e5\u5e38\u751f\u6d3b\u306b\u652f\u969c\u304c\u51fa\u308b\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u810a\u67f1\u5074\u5f2f\u75c7\uff08\u305b\u304d\u3061\u3085\u3046\u305d\u304f\u308f\u3093\u3057\u3087\u3046\uff09\u306e\u30c1\u30a7\u30c3\u30af\uff1a<\/strong> \u80cc\u9aa8\u304c\u66f2\u304c\u3063\u3066\u304f\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E3%81%8A%E3%82%88%E3%81%B3%E6%95%99%E8%82%B2%E7%9A%84%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span><strong>\u767a\u9054\u304a\u3088\u3073\u6559\u80b2\u7684\u30b5\u30dd\u30fc\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u77e5\u7684\u306a\u767a\u9054\u306e\u9045\u308c\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/learning-disabilities-genetics-support\/\">\u5b66\u7fd2\u969c\u5bb3<\/a>\u306b\u5bfe\u3057\u3066\u306f\u3001\u500b\u3005\u306e\u30da\u30fc\u30b9\u306b\u5408\u308f\u305b\u305f\u652f\u63f4\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7642\u80b2\uff08\u767a\u9054\u652f\u63f4\uff09\uff1a<\/strong> \u65e9\u671f\u304b\u3089\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3084\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u624b\u5148\u306e\u5668\u7528\u3055\u3084\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u3092\u4f38\u3070\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5225\u652f\u63f4\u6559\u80b2\uff1a<\/strong> \u5b66\u6821\u751f\u6d3b\u306b\u304a\u3044\u3066\u306f\u3001\u500b\u5225\u306e\u6307\u5c0e\u8a08\u753b\uff08IEP\uff09\u3092\u4f5c\u6210\u3057\u3001\u5f97\u610f\u306a\u3053\u3068\u3092\u4f38\u3070\u3057\u3001\u82e6\u624b\u306a\u90e8\u5206\u3092\u74b0\u5883\u8abf\u6574\u3067\u30ab\u30d0\u30fc\u3059\u308b\u914d\u616e\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%B0%82%E9%96%80%E7%A7%91%E3%81%AB%E3%82%88%E3%82%8B%E3%82%B1%E3%82%A2\"><\/span><strong>\u305d\u306e\u4ed6\u306e\u5c02\u9580\u79d1\u306b\u3088\u308b\u30b1\u30a2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8033\u9f3b\u54bd\u5589\u79d1\uff1a<\/strong> \u96e3\u8074\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306e\u5b9a\u671f\u7684\u306a\u8074\u529b\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u4e2d\u8033\u708e\u306e\u65e9\u671f\u6cbb\u7642\u306f\u8a00\u8449\u306e\u767a\u9054\u3092\u5b88\u308b\u305f\u3081\u306b\u3082\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u30fb\u77ef\u6b63\u6b6f\u79d1\uff1a<\/strong> \u6b6f\u306e\u6b20\u640d\u3084\u4e26\u3073\u306e\u554f\u984c\u306b\u5bfe\u3057\u3066\u3001\u65e9\u671f\u304b\u3089\u6b6f\u79d1\u533b\u5e2b\u3068\u76f8\u8ac7\u3057\u3001\u5c06\u6765\u7684\u306a\u77ef\u6b63\u3084\u30a4\u30f3\u30d7\u30e9\u30f3\u30c8\u306a\u3069\u306e\u8a08\u753b\u3092\u7acb\u3066\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u76ae\u819a\u79d1\uff1a<\/strong> \u9aea\u306e\u6bdb\u306e\u30b1\u30a2\uff08\u982d\u76ae\u306e\u4fdd\u8b77\uff09\u3084\u3001\u76ae\u819a\u306e\u5f31\u3055\u306b\u5bfe\u3059\u308b\u30a2\u30c9\u30d0\u30a4\u30b9\u3092\u53d7\u3051\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5185\u5206\u6ccc\u79d1\uff1a<\/strong> \u8457\u3057\u3044\u4f4e\u8eab\u9577\u304c\u3042\u308b\u5834\u5408\u3001\u9aa8\u7aef\u7dda\u306e\u72b6\u614b\u3092\u78ba\u8a8d\u3057\u305f\u4e0a\u3067\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5\u306e\u53ef\u80fd\u6027\u306b\u3064\u3044\u3066\u8b70\u8ad6\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u5916\u9aa8\u816b\u3078\u306e\u5f71\u97ff\u3092\u8003\u616e\u3057\u3001\u614e\u91cd\u306b\u5224\u65ad\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B3%A8%E6%84%8F%E3%81%99%E3%81%B9%E3%81%8D%E7%82%B9%EF%BC%9A%E6%82%AA%E6%80%A7%E5%8C%96%E3%81%AE%E7%9B%A3%E8%A6%96\"><\/span><strong>\u6ce8\u610f\u3059\u3079\u304d\u70b9\uff1a\u60aa\u6027\u5316\u306e\u76e3\u8996<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u975e\u5e38\u306b\u7a00\u306a\u30b1\u30fc\u30b9\uff08\u6570\u30d1\u30fc\u30bb\u30f3\u30c8\u4ee5\u4e0b\uff09\u3067\u3059\u304c\u3001\u826f\u6027\u306e\u5916\u9aa8\u816b\u304c\u6210\u4eba\u671f\u4ee5\u964d\u306b\u300c\u8edf\u9aa8\u8089\u816b\uff08\u306a\u3093\u3053\u3064\u306b\u304f\u3057\u3085\uff09\u300d\u3068\u3044\u3046\u60aa\u6027\u816b\u760d\uff08\u304c\u3093\uff09\u306b\u5909\u5316\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6025\u306b\u3053\u3076\u304c\u5927\u304d\u304f\u306a\u3063\u305f\u3001\u5927\u4eba\u306e\u6bb5\u968e\u3067\u75db\u307f\u304c\u51fa\u3066\u304d\u305f\u3001\u3068\u3044\u3063\u305f\u5834\u5408\u306b\u306f\u3001\u901f\u3084\u304b\u306b\u5c02\u9580\u533b\u3092\u53d7\u8a3a\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\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\/2026\/01\/4211835_s.webp\" alt=\"\u8d64\u3061\u3083\u3093\" class=\"wp-image-121513\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>6. \u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>TRPS2\uff08\u30e9\u30f3\u30ac\u30fc\u30fb\u30ae\u30c7\u30aa\u30f3\u75c7\u5019\u7fa4\uff09\u306f\u3001\u6bdb\u9aea\u3001\u9f3b\u3001\u6307\u3001\u305d\u3057\u3066\u5168\u8eab\u306e\u9aa8\u306b\u7279\u5fb4\u3092\u6301\u3064\u75c7\u5019\u7fa4\u3067\u3059\u3002\u7b2c8\u756a\u67d3\u8272\u4f53\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3068\u3044\u3046\u660e\u78ba\u306a\u539f\u56e0\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u306f\u4e00\u4eba\u3072\u3068\u308a\u3067\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><tbody><tr><td><strong>\u7279\u5fb4\u7684\u306a\u75c7\u72b6<\/strong><\/td><td><strong>\u4e3b\u306a\u5bfe\u7b56<\/strong><\/td><\/tr><tr><td><strong>\u8584\u3044\u6bdb\u9aea\u30fb\u68a8\u72b6\u9f3b<\/strong><\/td><td>\u5916\u898b\u7684\u306a\u30b1\u30a2\u3001\u81ea\u4fe1\u3092\u80b2\u3080\u30b5\u30dd\u30fc\u30c8<\/td><\/tr><tr><td><strong>\u591a\u767a\u6027\u5916\u9aa8\u816b<\/strong><\/td><td>\u6574\u5f62\u5916\u79d1\u306b\u3088\u308b\u5b9a\u671f\u7684\u306a\u30ec\u30f3\u30c8\u30b2\u30f3\u76e3\u8996\u3001\u5fc5\u8981\u6642\u306e\u624b\u8853<\/td><\/tr><tr><td><strong>\u6307\u306e\u5186\u9310\u5f62\u9aa8\u7aef<\/strong><\/td><td>\u624b\u5148\u306e\u8a13\u7df4\uff08\u4f5c\u696d\u7642\u6cd5\uff09\u3001\u95a2\u7bc0\u306e\u4fdd\u8b77<\/td><\/tr><tr><td><strong>\u767a\u9054\u30fb\u77e5\u80fd\u306e\u9045\u308c<\/strong><\/td><td>\u500b\u5225\u6307\u5c0e\u3001\u65e9\u671f\u7642\u80b2\u3001\u8a00\u8a9e\u8a13\u7df4<\/td><\/tr><tr><td><strong>\u8074\u899a\u30fb\u6b6f\u79d1\u306e\u554f\u984c<\/strong><\/td><td>\u5b9a\u671f\u7684\u306a\u5c02\u9580\u79d1\u53d7\u8a3a\u3001\u65e9\u671f\u4ecb\u5165<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u7ba1\u7406\u306b\u304a\u3044\u3066\u6700\u3082\u5927\u5207\u306a\u306e\u306f\u3001\u4e00\u3064\u306e\u8a3a\u7642\u79d1\u3060\u3051\u3067\u306a\u304f\u3001\u5c0f\u5150\u79d1\u3001\u6574\u5f62\u5916\u79d1\u3001\u8033\u9f3b\u79d1\u3001\u6b6f\u79d1\u3001\u305d\u3057\u3066\u6559\u80b2\u6a5f\u95a2\u304c\u9023\u643a\u3057\u3066\u3001\u304a\u5b50\u3055\u3093\u3092\u30c1\u30fc\u30e0\u3067\u652f\u3048\u3066\u3044\u304f\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\"><\/span><strong>7. \u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u300cTRPS2\u300d\u3068\u3044\u3046\u8a3a\u65ad\u540d\u3092\u805e\u3044\u305f\u3068\u304d\u3001\u591a\u304f\u306e\u3054\u5bb6\u65cf\u306f\u8a00\u8449\u306b\u3067\u304d\u306a\u3044\u307b\u3069\u306e\u4e0d\u5b89\u3092\u611f\u3058\u308b\u3082\u306e\u3067\u3059\u3002\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3057\u3066\u3082\u3001\u96e3\u3057\u3044\u533b\u5b66\u7528\u8a9e\u3084\u3001\u6975\u7aef\u306b\u91cd\u75c7\u306a\u75c7\u4f8b\u306e\u5199\u771f\u3070\u304b\u308a\u304c\u51fa\u3066\u304d\u3066\u3001\u5c06\u6765\u3092\u60b2\u89b3\u3057\u3066\u3057\u307e\u3046\u3053\u3068\u3082\u3042\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u899a\u3048\u3066\u304a\u3044\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u306e\u306f\u3001\u533b\u5b66\u7684\u306a\u300c\u75c7\u72b6\u30ea\u30b9\u30c8\u300d\u3060\u3051\u304c\u304a\u5b50\u3055\u3093\u306e\u3059\u3079\u3066\u3067\u306f\u306a\u3044\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002TRPS2\u3092\u6301\u3064\u304a\u5b50\u3055\u3093\u305f\u3061\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u30da\u30fc\u30b9\u3067\u78ba\u5b9f\u306b\u6210\u9577\u3057\u3001\u72ec\u81ea\u306e\u611f\u6027\u3084\u624d\u80fd\u3092\u767a\u63ee\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%97%A5%E5%B8%B8%E7%94%9F%E6%B4%BB%E3%81%A7%E5%BF%83%E3%81%8C%E3%81%91%E3%81%9F%E3%81%84%E3%81%93%E3%81%A8\"><\/span><strong>\u65e5\u5e38\u751f\u6d3b\u3067\u5fc3\u304c\u3051\u305f\u3044\u3053\u3068<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u300c\u3044\u307e\u300d\u3067\u304d\u308b\u3053\u3068\u306b\u76ee\u3092\u5411\u3051\u308b\uff1a<\/strong> \u5c06\u6765\u306e\u4e0d\u5b89\u306f\u5c3d\u304d\u307e\u305b\u3093\u304c\u3001\u307e\u305a\u306f\u4eca\u3001\u304a\u5b50\u3055\u3093\u304c\u4f55\u306b\u8208\u5473\u3092\u6301\u3061\u3001\u4f55\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u304b\u3092\u559c\u3076\u6642\u9593\u3092\u5927\u5207\u306b\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n\n\n\n<li><strong>\u76f8\u8ac7\u5148\u3092\u8907\u6570\u6301\u3064\uff1a<\/strong> \u4e3b\u6cbb\u533b\u3060\u3051\u3067\u306a\u304f\u3001\u7642\u80b2\u30bb\u30f3\u30bf\u30fc\u306e\u30b9\u30bf\u30c3\u30d5\u3001\u5b66\u6821\u306e\u5148\u751f\u3001\u3042\u308b\u3044\u306f\u540c\u3058\u3088\u3046\u306a\u75be\u60a3\u3092\u6301\u3064\u5bb6\u65cf\u4f1a\u306a\u3069\u3001\u6c17\u6301\u3061\u3092\u5171\u6709\u3067\u304d\u308b\u5834\u6240\u3092\u898b\u3064\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n\n\n\n<li><strong>\u60c5\u5831\u3092\u9078\u5225\u3059\u308b\uff1a<\/strong> \u533b\u5b66\u60c5\u5831\u306f\u5e38\u306b\u66f4\u65b0\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u53e4\u3044\u60c5\u5831\u3084\u51fa\u6240\u306e\u4e0d\u660e\u306a\u60c5\u5831\u306b\u632f\u308a\u56de\u3055\u308c\u305a\u3001\u5c02\u9580\u533b\u306b\u3088\u308b\u6700\u65b0\u306e\u898b\u89e3\u3092\u53c2\u8003\u306b\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n\n\n\n<li><strong>\u304a\u5b50\u3055\u3093\u306e\u81ea\u5df1\u80af\u5b9a\u611f\u3092\u80b2\u3080\uff1a<\/strong> \u5916\u898b\u306b\u7279\u5fb4\u304c\u3042\u308b\u3053\u3068\u3067\u3001\u6210\u9577\u904e\u7a0b\u3067\u81ea\u610f\u8b58\u3092\u6301\u3064\u6642\u671f\u304c\u6765\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u305d\u306e\u6642\u3001\u304a\u5b50\u3055\u3093\u304c\u300c\u81ea\u5206\u306f\u611b\u3055\u308c\u3066\u3044\u308b\u5b58\u5728\u3060\u300d\u3068\u5f37\u304f\u611f\u3058\u3089\u308c\u308b\u3088\u3046\u306a\u74b0\u5883\u3065\u304f\u308a\u304c\u3001\u4f55\u3088\u308a\u306e\u85ac\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u78ba\u304b\u306b\u591a\u304f\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u5fc5\u8981\u3068\u3057\u307e\u3059\u304c\u3001\u9069\u5207\u306a\u30b1\u30a2\u3068\u7406\u89e3\u304c\u3042\u308c\u3070\u3001\u304a\u5b50\u3055\u3093\u306f\u8c4a\u304b\u3067\u81ea\u7acb\u3057\u305f\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002\u7126\u3089\u305a\u3001\u4e00\u6b69\u305a\u3064\u3001\u304a\u5b50\u3055\u3093\u306e\u6b69\u307f\u306b\u5bc4\u308a\u6dfb\u3063\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n","protected":false},"excerpt":{"rendered":"\u6bdb\u9aea\u30fb\u9f3b\u30fb\u6307\u7bc0\u75c7\u5019\u7fa4II\u578b\uff08Tricho&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":121744,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-121742","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-1392"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121742","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\/122"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=121742"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121742\/revisions"}],"predecessor-version":[{"id":121747,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121742\/revisions\/121747"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/121744"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121742"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=121742"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=121742"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}