{"id":121734,"date":"2026-01-07T16:38:51","date_gmt":"2026-01-07T07:38:51","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121734"},"modified":"2026-01-07T16:38:53","modified_gmt":"2026-01-07T07:38:53","slug":"langer-giedion-syndrome-trps2","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/langer-giedion-syndrome-trps2\/","title":{"rendered":"\u30e9\u30f3\u30ac\u30fc\u30fb\u30ae\u30c7\u30aa\u30f3\u75c7\u5019\u7fa4\uff08LGS\uff09\u306b\u3064\u3044\u3066\uff1a\u7279\u5fb4\u30fb\u539f\u56e0\u30fb\u751f\u6d3b\u306e\u30b5\u30dd\u30fc\u30c8\u307e\u3067"},"content":{"rendered":"\n<p>\u304a\u5b50\u69d8\u304c\u300c\u30e9\u30f3\u30ac\u30fc\u30fb\u30ae\u30c7\u30aa\u30f3\u75c7\u5019\u7fa4\uff08Langer-Giedion Syndrome\uff09\u300d\u3001\u3042\u308b\u3044\u306f\u300c\u6bdb\u9aea\u30fb\u9f3b\u30fb\u6307\u7bc0\u9aa8\u75c7\u5019\u7fa4 II\u578b\uff08TRPS II\uff09\u300d\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u306e\u7686\u69d8\u3078\u3002 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class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/langer-giedion-syndrome-trps2\/#%E3%81%8A%E5%AD%90%E6%A7%98%E3%81%AE%E3%80%8C%E5%80%8B%E6%80%A7%E3%80%8D%E3%82%92%E8%A6%8B%E3%81%A6%E3%81%82%E3%81%92%E3%81%A6%E3%81%8F%E3%81%A0%E3%81%95%E3%81%84\" >\u304a\u5b50\u69d8\u306e\u300c\u500b\u6027\u300d\u3092\u898b\u3066\u3042\u3052\u3066\u304f\u3060\u3055\u3044<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/langer-giedion-syndrome-trps2\/#%E4%B8%80%E4%BA%BA%E3%81%A7%E6%8A%B1%E3%81%88%E8%BE%BC%E3%81%BE%E3%81%AA%E3%81%84%E3%81%A7%E3%81%8F%E3%81%A0%E3%81%95%E3%81%84\" >\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u307e\u306a\u3044\u3067\u304f\u3060\u3055\u3044<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/langer-giedion-syndrome-trps2\/#%E3%80%8C%E9%95%B7%E6%9C%9F%E6%88%A6%E3%80%8D%E3%81%AE%E8%A6%96%E7%82%B9%E3%82%92%E6%8C%81%E3%81%A4\" >\u300c\u9577\u671f\u6226\u300d\u306e\u8996\u70b9\u3092\u6301\u3064<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/langer-giedion-syndrome-trps2\/#%E9%81%A9%E5%88%87%E3%81%AA%E5%8C%BB%E7%99%82%E7%AE%A1%E7%90%86%E3%81%A7%E3%80%81%E8%B1%8A%E3%81%8B%E3%81%AA%E7%94%9F%E6%B4%BB%E3%82%92\" >\u9069\u5207\u306a\u533b\u7642\u7ba1\u7406\u3067\u3001\u8c4a\u304b\u306a\u751f\u6d3b\u3092<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/langer-giedion-syndrome-trps2\/#7_%E3%81%BE%E3%81%A8%E3%82%81\" >7. \u307e\u3068\u3081<\/a><\/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%83%A9%E3%83%B3%E3%82%AC%E3%83%BC%E3%83%BB%E3%82%AE%E3%83%87%E3%82%AA%E3%83%B3%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF\"><\/span><strong>1. \u6982\u8981\uff1a\u30e9\u30f3\u30ac\u30fc\u30fb\u30ae\u30c7\u30aa\u30f3\u75c7\u5019\u7fa4\u3068\u306f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30e9\u30f3\u30ac\u30fc\u30fb\u30ae\u30c7\u30aa\u30f3\u75c7\u5019\u7fa4\uff08LGS\uff09\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u306e\u4e00\u90e8\u304c\u5931\u308f\u308c\u3066\u3044\u308b\uff08\u6b20\u5931\u3057\u3066\u3044\u308b\uff09\u3053\u3068\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u5b66\u7684\u306b\u306f**\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\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u67d3\u8272\u4f53\u4e0a\u306e\u96a3\u308a\u5408\u3063\u3066\u3044\u308b\u3044\u304f\u3064\u304b\u306e\u907a\u4f1d\u5b50\u304c\u307e\u3068\u3081\u3066\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u3001\u305d\u308c\u305e\u308c\u306e\u907a\u4f1d\u5b50\u304c\u62c5\u5f53\u3057\u3066\u3044\u305f\u6a5f\u80fd\u306b\u5f71\u97ff\u304c\u51fa\u308b\u3053\u3068\u306b\u3088\u308a\u3001\u8907\u6570\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u304c\u540c\u6642\u306b\u73fe\u308c\u308b\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%88%A5%E3%81%AE%E5%91%BC%E3%81%B3%E6%96%B9\"><\/span><strong>\u5225\u306e\u547c\u3073\u65b9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>TRPS II\uff08Trichorhinophalangeal Syndrome Type II\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u65e5\u672c\u8a9e\u3067\u306f\u300c\u6bdb\u9aea\u30fb\u9f3b\u30fb\u6307\u7bc0\u9aa8\uff08\u3082\u3046\u306f\u3064\u30fb\u3073\u30fb\u3057\u305b\u3064\u3053\u3064\uff09\u75c7\u5019\u7fa4 II\u578b\u300d\u3068\u547c\u3070\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u540d\u524d\u306f\u3001\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u304c\u51fa\u308b\u5834\u6240\uff08\u9aea\u306e\u6bdb\u3001\u9f3b\u3001\u6307\u306e\u9aa8\uff09\u3092\u8868\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A0%BB%E5%BA%A6%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\"><\/span><strong>\u983b\u5ea6\u306b\u3064\u3044\u3066<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\uff08\u5e0c\u5c11\u75be\u60a3\uff09\u3067\u3042\u308a\u3001\u6b63\u78ba\u306a\u983b\u5ea6\u306f\u308f\u304b\u3063\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u4e16\u754c\u4e2d\u3067\u5831\u544a\u4f8b\u304c\u84c4\u7a4d\u3055\u308c\u3066\u3044\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u306b\u3088\u308b\u767a\u75c7\u7387\u306e\u5dee\u306f\u307b\u3068\u3093\u3069\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%81%AA%E3%81%9C%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%8C%E8%B5%B7%E3%81%93%E3%82%8B%E3%81%AE%E3%81%8B\"><\/span><strong>2. \u539f\u56e0\uff1a\u306a\u305c\u3053\u306e\u75c5\u6c17\u304c\u8d77\u3053\u308b\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E5%A4%89%E5%8C%96\"><\/span><strong>\u67d3\u8272\u4f53\u306e\u5909\u5316<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u79c1\u305f\u3061\u306e\u4f53\u3092\u4f5c\u308b\u8a2d\u8a08\u56f3\u3067\u3042\u308b\u300c\u67d3\u8272\u4f53\uff08\u305b\u3093\u3057\u3087\u304f\u305f\u3044\uff09\u300d\u306e\u3001<strong>8\u756a\u67d3\u8272\u4f53<\/strong>\u306e\u4e00\u90e8\u306b\u5909\u5316\u304c\u3042\u308b\u3053\u3068\u304c\u539f\u56e0\u3067\u3059\u3002 \u5177\u4f53\u7684\u306b\u306f\u30018\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08\u9577\u3044\u65b9\u306e\u8155\uff09\u306e\u300cq24.1\u300d\u3068\u3044\u3046\u5834\u6240\u306b\u3042\u308b\u907a\u4f1d\u7269\u8cea\u304c\u5fae\u7d30\u306b\u6b20\u5931\uff08\u306a\u304f\u306a\u3063\u3066\u3057\u307e\u3046\u3053\u3068\uff09\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2%E3%81%A4%E3%81%AE%E9%87%8D%E8%A6%81%E3%81%AA%E9%81%BA%E4%BC%9D%E5%AD%90\"><\/span><strong>2\u3064\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u6b20\u5931\u7bc4\u56f2\u306b\u306f\u3001LGS\u306e\u4e3b\u306a\u75c7\u72b6\u306b\u95a2\u308f\u308b2\u3064\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u304c\u540c\u6642\u306b\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u3001LGS\u7279\u6709\u306e\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>TRPS1 \u907a\u4f1d\u5b50<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> \u9aea\u306e\u6bdb\u3084\u9854\u306e\u5f62\u6210\u3001\u9aa8\u306e\u6210\u9577\u306b\u95a2\u308f\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f71\u97ff:<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3059\u308b\u3068\u3001\u8584\u3044\u9aea\u306e\u6bdb\u3001\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3001\u6307\u306e\u9aa8\u306e\u5909\u5316\u306a\u3069\u304c\u73fe\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>EXT1 \u907a\u4f1d\u5b50<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> \u9aa8\u306e\u8868\u9762\u306b\u3042\u308b\u8edf\u9aa8\u306e\u6210\u9577\u3092\u5236\u5fa1\u3059\u308b\u5f79\u5272\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f71\u97ff:<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3059\u308b\u3068\u3001\u300c\u591a\u767a\u6027\u5916\u9aa8\u816b\uff08\u305f\u306f\u3064\u305b\u3044\u304c\u3044\u3053\u3064\u3057\u3085\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u3001\u9aa8\u306e\u3053\u3076\u306e\u3088\u3046\u306a\u3082\u306e\u304c\u3067\u304d\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E3%81%99%E3%82%8B%E3%81%AE%E3%81%A7%E3%81%97%E3%82%87%E3%81%86%E3%81%8B%EF%BC%9F\"><\/span><strong>\u907a\u4f1d\u3059\u308b\u306e\u3067\u3057\u3087\u3046\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u5375\u304c\u3067\u304d\u308b\u3068\u304d\u3084\u521d\u671f\u306e\u7d30\u80de\u5206\u88c2\u306e\u3068\u304d\u306b\u5076\u7136\u8d77\u3053\u308b\u5909\u5316\uff08\u7a81\u7136\u5909\u7570\uff09\u3067\u3059\u3002\u3053\u308c\u3092\u533b\u5b66\u7528\u8a9e\u3067**\u300cde novo\uff08\u30c7\u30fb\u30ce\u30dc\uff09\u5909\u7570\u300d**\u3068\u547c\u3073\u307e\u3059\u3002 \u3057\u305f\u304c\u3063\u3066\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u60aa\u3044\u308f\u3051\u3067\u3082\u3001\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u304c\u539f\u56e0\u3067\u3082\u3042\u308a\u307e\u305b\u3093\u3002 \u305f\u3060\u3057\u3001\u7a00\u306b\u89aa\u5fa1\u3055\u3093\u304c\u540c\u3058\u67d3\u8272\u4f53\u306e\u5909\u5316\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3082\u3042\u308b\u305f\u3081\u3001\u6b21\u306e\u598a\u5a20\u3092\u8003\u3048\u308b\u969b\u306a\u3069\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u76f8\u8ac7\u3059\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%9A%E8%BA%AB%E4%BD%93%E7%9A%84%E7%89%B9%E5%BE%B4%E3%81%A8%E7%99%BA%E9%81%94\"><\/span><strong>3. \u4e3b\u306a\u75c7\u72b6\uff1a\u8eab\u4f53\u7684\u7279\u5fb4\u3068\u767a\u9054<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>LGS\u306e\u75c7\u72b6\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u3059\u3079\u3066\u306e\u304a\u5b50\u69d8\u306b\u3059\u3079\u3066\u306e\u75c7\u72b6\u304c\u51fa\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3053\u3053\u3067\u306f\u4ee3\u8868\u7684\u306a\u7279\u5fb4\u3092\u6319\u3052\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E3%81%8A%E9%A1%94%E3%81%A8%E9%AB%AA%E3%81%AE%E6%AF%9B%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%88TRPS1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B1%E9%9F%BF%EF%BC%89\"><\/span><strong>\u2460 \u304a\u9854\u3068\u9aea\u306e\u6bdb\u306e\u7279\u5fb4\uff08TRPS1\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u751f\u307e\u308c\u305f\u3068\u304d\u304b\u3089\u3001\u3042\u308b\u3044\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u3001\u611b\u3089\u3057\u3044\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u304c\u898b\u3089\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9aea\u306e\u6bdb:<\/strong> \u91cf\u304c\u5c11\u306a\u304f\u3001\u7d30\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\uff08\u758e\u6bdb\uff09\u3002\u6210\u9577\u3068\u3068\u3082\u306b\u6539\u5584\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7709\u6bdb:<\/strong> \u7279\u306b\u5916\u5074\uff08\u8033\u306b\u8fd1\u3044\u65b9\uff09\u304c\u8584\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9f3b:<\/strong> \u9f3b\u5148\u304c\u5c11\u3057\u4e38\u304f\u3001\u5c0f\u9f3b\u304c\u3057\u3063\u304b\u308a\u3057\u3066\u3044\u308b\u5f62\u72b6\uff08\u68a8\u72b6\u9f3b\uff1a\u308a\u3058\u3087\u3046\u3073\uff09\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4eba\u4e2d\uff08\u3058\u3093\u3061\u3085\u3046\uff09:<\/strong> \u9f3b\u306e\u4e0b\u304b\u3089\u4e0a\u5507\u307e\u3067\u306e\u6e9d\u304c\u9577\u304f\u3001\u5e73\u5766\u306a\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8033:<\/strong> \u8033\u304c\u5927\u304d\u304f\u3001\u5c11\u3057\u7acb\u3061\u8033\u306e\u3088\u3046\u306b\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%E3%81%A8%E9%96%A2%E7%AF%80%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>\u2461 \u9aa8\u3068\u95a2\u7bc0\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9aa8\u306e\u6210\u9577\u306b\u95a2\u308f\u308b\u75c7\u72b6\u306f\u3001LGS\u306e\u6700\u3082\u5927\u304d\u306a\u7279\u5fb4\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u591a\u767a\u6027\u5916\u9aa8\u816b\uff08\u305f\u306f\u3064\u305b\u3044\u304c\u3044\u3053\u3064\u3057\u3085\uff09\uff1aEXT1\u907a\u4f1d\u5b50\u306e\u5f71\u97ff<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6982\u8981:<\/strong> \u9aa8\u306e\u8868\u9762\u306b\u3001\u826f\u6027\u306e\u300c\u9aa8\u306e\u51fa\u3063\u5f35\u308a\uff08\u3053\u3076\uff09\u300d\u304c\u3067\u304d\u308b\u75c7\u72b6\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6642\u671f:<\/strong> \u901a\u5e38\u3001\u751f\u5f8c\u3059\u3050\u306b\u306f\u76ee\u7acb\u305f\u305a\u3001\u5e7c\u5150\u671f\u304b\u3089\u5b66\u7ae5\u671f\uff085\u6b73\u524d\u5f8c\uff5e\uff09\u306b\u304b\u3051\u3066\u5f90\u3005\u306b\u73fe\u308c\u59cb\u3081\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5834\u6240:<\/strong> \u808b\u9aa8\u3001\u80a9\u7532\u9aa8\u3001\u624b\u8db3\u306e\u9577\u3044\u9aa8\u306e\u7aef\u306a\u3069\u306b\u3088\u304f\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f71\u97ff:<\/strong> \u307b\u3068\u3093\u3069\u306f\u826f\u6027\u3067\u3059\u304c\u3001\u3053\u3076\u304c\u5927\u304d\u304f\u306a\u308b\u3068\u3001\u75db\u307f\u304c\u51fa\u305f\u308a\u3001\u95a2\u7bc0\u306e\u52d5\u304d\u3092\u5236\u9650\u3057\u305f\u308a\u3001\u795e\u7d4c\u3092\u5727\u8feb\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6307\u306e\u9aa8\u306e\u5909\u5316\uff08\u5186\u9310\u9aa8\u7aef\uff1a\u3048\u3093\u3059\u3044\u3053\u3063\u305f\u3093\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\u3092\u64ae\u308b\u3068\u3001\u6307\u306e\u95a2\u7bc0\u90e8\u5206\u306e\u9aa8\u304c\u4e09\u89d2\u5f62\uff08\u5186\u9310\u72b6\uff09\u306b\u898b\u3048\u308b\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306b\u3088\u308a\u3001\u6307\u304c\u5c11\u3057\u77ed\u304f\u306a\u3063\u305f\u308a\u3001\u95a2\u7bc0\u304c\u66f2\u304c\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4f4e\u8eab\u9577<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u540c\u5e74\u4ee3\u306e\u304a\u5b50\u3055\u3093\u3068\u6bd4\u3079\u3066\u3001\u8eab\u9577\u306e\u4f38\u3073\u304c\u7de9\u3084\u304b\u306a\u3053\u3068\u304c\u591a\u304f\u3001\u5c0f\u67c4\u306a\u4f53\u683c\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E7%99%BA%E9%81%94%E3%81%A8%E7%9F%A5%E7%9A%84%E3%81%AA%E9%9D%A2\"><\/span><strong>\u2462 \u767a\u9054\u3068\u77e5\u7684\u306a\u9762<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u767a\u9054:<\/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\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u305d\u306e\u7a0b\u5ea6\u306f\u975e\u5e38\u306b\u5e45\u5e83\u3044\u3067\u3059\u3002\u8a00\u8449\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054:<\/strong> \u7b4b\u8089\u306e\u5f35\u308a\u304c\u5f31\u3044\uff08\u4f4e\u7dca\u5f35\uff09\u3053\u3068\u304c\u3042\u308a\u3001\u9996\u306e\u3059\u308f\u308a\u3084\u6b69\u304d\u59cb\u3081\u304c\u5c11\u3057\u3086\u3063\u304f\u308a\u306b\u306a\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%A3_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span><strong>\u2463 \u305d\u306e\u4ed6\u306e\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u76ae\u819a:<\/strong> \u76ae\u819a\u304c\u4f59\u3063\u3066\u3044\u308b\u3088\u3046\u306b\u898b\u3048\u305f\u308a\u3001\u305f\u308b\u307f\u3084\u3059\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u95a2\u7bc0:<\/strong> \u95a2\u7bc0\u304c\u67d4\u3089\u304b\u304f\u3001\u53ef\u52d5\u57df\u304c\u5e83\u3044\uff08\u904e\u4f38\u5c55\uff09\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8074\u899a:<\/strong> \u96e3\u8074\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u81d3\u30fb\u5c3f\u8def\u7cfb:<\/strong> \u7a00\u306b\u3001\u5c3f\u7ba1\u306e\u69cb\u9020\u306a\u3069\u306b\u7279\u5fb4\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=\"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>\u8a3a\u65ad\u306f\u3001\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u306e\u78ba\u8a8d\u3068\u3001\u753b\u50cf\u691c\u67fb\u3001\u305d\u3057\u3066\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%BA%AB%E4%BD%93%E6%89%80%E8%A6%8B%E3%81%AE%E7%A2%BA%E8%AA%8D\"><\/span><strong>\u8eab\u4f53\u6240\u898b\u306e\u78ba\u8a8d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u533b\u5e2b\u304c\u3001\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3001\u9aea\u306e\u6bdb\u306e\u69d8\u5b50\u3001\u8033\u306e\u5f62\u306a\u3069\u3092\u4e01\u5be7\u306b\u8a3a\u5bdf\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88%E3%83%AC%E3%83%B3%E3%83%88%E3%82%B2%E3%83%B3%EF%BC%89\"><\/span><strong>\u753b\u50cf\u691c\u67fb\uff08\u30ec\u30f3\u30c8\u30b2\u30f3\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u624b\u8db3\u306e\u30ec\u30f3\u30c8\u30b2\u30f3:<\/strong> \u6307\u306e\u9aa8\u306e\u7279\u5fb4\u7684\u306a\u5f62\uff08\u5186\u9310\u9aa8\u7aef\uff09\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5168\u8eab\u306e\u9aa8:<\/strong> \u5e7c\u5150\u671f\u4ee5\u964d\u3067\u3042\u308c\u3070\u3001\u5916\u9aa8\u816b\uff08\u9aa8\u306e\u3053\u3076\uff09\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002\u8840\u6db2\u3092\u63a1\u53d6\u3057\u3066\u3001\u67d3\u8272\u4f53\u3084\u907a\u4f1d\u5b50\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\uff08CMA\uff09:<\/strong> \u73fe\u5728\u3001\u6700\u3082\u4e00\u822c\u7684\u306b\u884c\u308f\u308c\u308b\u691c\u67fb\u3067\u3059\u3002\u67d3\u8272\u4f53\u306e\u975e\u5e38\u306b\u7d30\u304b\u3044\u6b20\u5931\uff08\u30de\u30a4\u30af\u30ed\u6b20\u5931\uff09\u3092\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u30028\u756a\u67d3\u8272\u4f53\u306eq24.1\u9818\u57df\u306b\u6b20\u5931\u304c\u3042\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u308c\u3070\u3001\u8a3a\u65ad\u304c\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>FISH\u6cd5\uff08\u30d5\u30a3\u30c3\u30b7\u30e5\u307b\u3046\uff09:<\/strong> \u7279\u5b9a\u306e\u9818\u57df\u306e\u6b20\u5931\u3092\u30d4\u30f3\u30dd\u30a4\u30f3\u30c8\u3067\u8abf\u3079\u308b\u691c\u67fb\u3067\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%E3%81%93%E3%82%8C%E3%81%8B%E3%82%89%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span><strong>5. \u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30b5\u30dd\u30fc\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u5728\u306e\u533b\u5b66\u3067\u306f\u3001\u5931\u308f\u308c\u305f\u907a\u4f1d\u5b50\u3092\u5143\u306b\u623b\u3059\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002 \u3057\u304b\u3057\u3001\u73fe\u308c\u308b\u75c7\u72b6\u306e\u4e00\u3064\u3072\u3068\u3064\u306b\u5bfe\u3057\u3066\u9069\u5207\u306a\u30b1\u30a2\u3092\u884c\u3046\u300c\u5bfe\u75c7\u7642\u6cd5\uff08\u305f\u3044\u3057\u3087\u3046\u308a\u3087\u3046\u307b\u3046\uff09\u300d\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u304c\u5feb\u9069\u306b\u751f\u6d3b\u3057\u3001\u6301\u3063\u3066\u3044\u308b\u529b\u3092\u6700\u5927\u9650\u306b\u4f38\u3070\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E7%9A%84%E3%81%AA%E7%AE%A1%E7%90%86%EF%BC%88%E9%AA%A8%E3%81%AE%E3%82%B1%E3%82%A2%EF%BC%89\"><\/span><strong>\u2460 \u6574\u5f62\u5916\u79d1\u7684\u306a\u7ba1\u7406\uff08\u9aa8\u306e\u30b1\u30a2\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u308c\u304c\u6700\u3082\u91cd\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af:<\/strong> \u5916\u9aa8\u816b\u304c\u3067\u304d\u3066\u3044\u306a\u3044\u304b\u3001\u5927\u304d\u304f\u306a\u3063\u3066\u3044\u306a\u3044\u304b\u3001\u75db\u307f\u306f\u306a\u3044\u304b\u3092\u5b9a\u671f\u7684\u306b\u30ec\u30f3\u30c8\u30b2\u30f3\u306a\u3069\u3067\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u624b\u8853:<\/strong> \u5916\u9aa8\u816b\u304c\u5927\u304d\u304f\u306a\u308a\u3059\u304e\u3066\u75db\u307f\u304c\u51fa\u305f\u308a\u3001\u95a2\u7bc0\u306e\u52d5\u304d\u3092\u90aa\u9b54\u3057\u305f\u308a\u3001\u795e\u7d4c\u3092\u5727\u8feb\u3057\u305f\u308a\u3059\u308b\u5834\u5408\u306f\u3001\u305d\u306e\u90e8\u5206\u3092\u53d6\u308a\u9664\u304f\u624b\u8853\u3092\u884c\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u624b\u8853\u306b\u3088\u3063\u3066\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u306f\u5927\u304d\u304f\u6539\u5584\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E7%99%BA%E9%81%94%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88%EF%BC%88%E7%99%82%E8%82%B2%EF%BC%89\"><\/span><strong>\u2461 \u767a\u9054\u306e\u30b5\u30dd\u30fc\u30c8\uff08\u7642\u80b2\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u304a\u5b50\u69d8\u306e\u767a\u9054\u6bb5\u968e\u306b\u5408\u308f\u305b\u305f\u30b5\u30dd\u30fc\u30c8\uff08\u7642\u80b2\uff09\u3092\u65e9\u671f\u304b\u3089\u59cb\u3081\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong> \u4f53\u306e\u4f7f\u3044\u65b9\u3092\u7df4\u7fd2\u3057\u3001\u904b\u52d5\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u624b\u6307\u306e\u7d30\u304b\u3044\u52d5\u304d\u3084\u3001\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u306e\u7df4\u7fd2\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<\/strong> \u8a00\u8449\u306e\u7406\u89e3\u3084\u767a\u8a9e\u3092\u4fc3\u3059\u30b5\u30dd\u30fc\u30c8\u3092\u3057\u307e\u3059\u3002\u96e3\u8074\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u88dc\u8074\u5668\u306e\u4f7f\u7528\u306a\u3069\u3082\u691c\u8a0e\u3057\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%AE%9A%E6%9C%9F%E7%9A%84%E3%81%AA%E5%81%A5%E5%BA%B7%E8%A8%BA%E6%96%AD\"><\/span><strong>\u2462 \u5b9a\u671f\u7684\u306a\u5065\u5eb7\u8a3a\u65ad<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8074\u529b\u691c\u67fb:<\/strong> \u77e5\u7684\u767a\u9054\u3084\u8a00\u8449\u306e\u767a\u9054\u306b\u5f71\u97ff\u3059\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306b\u8074\u529b\u3092\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059\u3002\u4e2d\u8033\u708e\u306a\u3069\u3092\u7e70\u308a\u8fd4\u3059\u5834\u5408\u306f\u65e9\u3081\u306b\u6cbb\u7642\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8996\u529b\u691c\u67fb:<\/strong> \u8996\u529b\u306b\u554f\u984c\u304c\u306a\u3044\u304b\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u691c\u8a3a:<\/strong> \u6b6f\u4e26\u3073\u3084\u6b6f\u306e\u6570\u306b\u7279\u5fb4\u304c\u3042\u308b\u5834\u5408\u304c\u3042\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u30b1\u30a2\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A3_%E5%BF%83%E7%90%86%E3%83%BB%E7%A4%BE%E4%BC%9A%E7%9A%84%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span><strong>\u2463 \u5fc3\u7406\u30fb\u793e\u4f1a\u7684\u30b5\u30dd\u30fc\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6210\u9577\u3068\u3068\u3082\u306b\u3001\u81ea\u5206\u306e\u5916\u898b\u3084\u3001\u5468\u308a\u306e\u53cb\u9054\u3068\u306e\u9055\u3044\u304c\u6c17\u306b\u306a\u308b\u6642\u671f\u304c\u6765\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5b66\u6821\u3084\u5712\u3068\u9023\u643a\u3057\u3001\u304a\u5b50\u69d8\u304c\u5f97\u610f\u306a\u3053\u3068\u3001\u82e6\u624b\u306a\u3053\u3068\u3092\u5171\u6709\u3057\u3066\u3001\u904e\u3054\u3057\u3084\u3059\u3044\u74b0\u5883\u3092\u6574\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u3001\u30b9\u30af\u30fc\u30eb\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3084\u5fc3\u7406\u58eb\u306a\u3069\u306e\u5c02\u9580\u5bb6\u306b\u76f8\u8ac7\u3067\u304d\u308b\u4f53\u5236\u3092\u4f5c\u3063\u3066\u304a\u304f\u3068\u5b89\u5fc3\u3067\u3059\u3002<\/li>\n<\/ul>\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\/2026\/01\/1381756_s.webp\" alt=\"\u8d64\u3061\u3083\u3093\" class=\"wp-image-121658\"\/><\/figure><\/div>\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%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>6. \u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3070\u304b\u308a\u306e\u4eca\u3001\u3054\u5bb6\u65cf\u306f\u300c\u306a\u305c\u3046\u3061\u306e\u5b50\u304c\uff1f\u300d\u300c\u5c06\u6765\u306f\u3069\u3046\u306a\u308b\u306e\u3060\u308d\u3046\uff1f\u300d\u3068\u3001\u51fa\u53e3\u306e\u898b\u3048\u306a\u3044\u30c8\u30f3\u30cd\u30eb\u306b\u3044\u308b\u3088\u3046\u306a\u6c17\u6301\u3061\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3053\u3053\u3067\u3001\u3044\u304f\u3064\u304b\u5fc3\u306b\u7559\u3081\u3066\u304a\u3044\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u3053\u3068\u3092\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%8A%E5%AD%90%E6%A7%98%E3%81%AE%E3%80%8C%E5%80%8B%E6%80%A7%E3%80%8D%E3%82%92%E8%A6%8B%E3%81%A6%E3%81%82%E3%81%92%E3%81%A6%E3%81%8F%E3%81%A0%E3%81%95%E3%81%84\"><\/span><strong>\u304a\u5b50\u69d8\u306e\u300c\u500b\u6027\u300d\u3092\u898b\u3066\u3042\u3052\u3066\u304f\u3060\u3055\u3044<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u533b\u5b66\u66f8\u3084\u30cd\u30c3\u30c8\u4e0a\u306e\u60c5\u5831\uff08\u3053\u306e\u8a18\u4e8b\u3082\u542b\u3081\u3066\uff09\u306f\u3001\u3042\u304f\u307e\u3067\u300c\u5168\u4f53\u7684\u306a\u50be\u5411\u300d\u3092\u307e\u3068\u3081\u305f\u3082\u306e\u3067\u3059\u3002 \u30e9\u30f3\u30ac\u30fc\u30fb\u30ae\u30c7\u30aa\u30f3\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u306f\u3001\u4e00\u4eba\u3072\u3068\u308a\u5168\u304f\u9055\u3044\u307e\u3059\u3002\u75c7\u72b6\u304c\u8efd\u3044\u5b50\u3082\u3044\u308c\u3070\u3001\u7279\u5b9a\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u306a\u5b50\u3082\u3044\u307e\u3059\u3002 \u75c5\u6c17\u306e\u7279\u5fb4\u306f\u3001\u304a\u5b50\u69d8\u3092\u69cb\u6210\u3059\u308b\u307b\u3093\u306e\u4e00\u90e8\u306b\u904e\u304e\u307e\u305b\u3093\u3002\u307e\u305a\u306f\u76ee\u306e\u524d\u306b\u3044\u308b\u304a\u5b50\u69d8\u306e\u7b11\u9854\u3084\u3001\u6628\u65e5\u3088\u308a\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u3053\u3068\u306b\u76ee\u3092\u5411\u3051\u3066\u3042\u3052\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%80%E4%BA%BA%E3%81%A7%E6%8A%B1%E3%81%88%E8%BE%BC%E3%81%BE%E3%81%AA%E3%81%84%E3%81%A7%E3%81%8F%E3%81%A0%E3%81%95%E3%81%84\"><\/span><strong>\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u307e\u306a\u3044\u3067\u304f\u3060\u3055\u3044<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u8eab\u8fd1\u306b\u540c\u3058\u75c5\u6c17\u306e\u304a\u5b50\u69d8\u3092\u6301\u3064\u5bb6\u65cf\u3092\u898b\u3064\u3051\u308b\u306e\u306f\u96e3\u3057\u3044\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u4eca\u306f\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3092\u901a\u3058\u3066\u3001\u60a3\u8005\u4f1a\u3084\u5bb6\u65cf\u4f1a\u3068\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002 \u307e\u305f\u3001\u4e3b\u6cbb\u533b\u3001\u770b\u8b77\u5e2b\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3001\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30ab\u30fc\u3001\u7642\u80b2\u30bb\u30f3\u30bf\u30fc\u306e\u30b9\u30bf\u30c3\u30d5\u306a\u3069\u3001\u591a\u304f\u306e\u5c02\u9580\u5bb6\u304c\u30c1\u30fc\u30e0\u3068\u3057\u3066\u304a\u5b50\u69d8\u3068\u3054\u5bb6\u65cf\u3092\u652f\u3048\u307e\u3059\u3002\u4e0d\u5b89\u306a\u3053\u3068\u3084\u56f0\u3063\u305f\u3053\u3068\u306f\u3001\u9060\u616e\u306a\u304f\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%80%8C%E9%95%B7%E6%9C%9F%E6%88%A6%E3%80%8D%E3%81%AE%E8%A6%96%E7%82%B9%E3%82%92%E6%8C%81%E3%81%A4\"><\/span><strong>\u300c\u9577\u671f\u6226\u300d\u306e\u8996\u70b9\u3092\u6301\u3064<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6210\u9577\u306b\u4f34\u3063\u3066\u3001\u6ce8\u610f\u3059\u3079\u304d\u70b9\u306f\u5909\u5316\u3057\u3066\u3044\u304d\u307e\u3059\u3002\u5e7c\u5150\u671f\u306f\u8a00\u8449\u3084\u904b\u52d5\u306e\u767a\u9054\u3001\u5b66\u7ae5\u671f\u306f\u9aa8\u306e\u7ba1\u7406\u3084\u5b66\u7fd2\u3001\u601d\u6625\u671f\u306f\u5fc3\u306e\u30b1\u30a2\u306a\u3069\u3001\u30b9\u30c6\u30fc\u30b8\u3054\u3068\u306b\u8ab2\u984c\u306f\u5909\u308f\u308a\u307e\u3059\u3002 \u7126\u3089\u305a\u3001\u305d\u306e\u6642\u3005\u306e\u8ab2\u984c\u306b\u5bfe\u3057\u3066\u3001\u533b\u7642\u30c1\u30fc\u30e0\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u4e00\u3064\u3072\u3068\u3064\u5bfe\u5fdc\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%A9%E5%88%87%E3%81%AA%E5%8C%BB%E7%99%82%E7%AE%A1%E7%90%86%E3%81%A7%E3%80%81%E8%B1%8A%E3%81%8B%E3%81%AA%E7%94%9F%E6%B4%BB%E3%82%92\"><\/span><strong>\u9069\u5207\u306a\u533b\u7642\u7ba1\u7406\u3067\u3001\u8c4a\u304b\u306a\u751f\u6d3b\u3092<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9069\u5207\u306a\u6574\u5f62\u5916\u79d1\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u3084\u7642\u80b2\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u591a\u304f\u306e\u304a\u5b50\u69d8\u304c\u81ea\u5206\u3089\u3057\u304f\u3001\u8c4a\u304b\u306a\u4eba\u751f\u3092\u9001\u3063\u3066\u3044\u307e\u3059\u3002 \u5916\u9aa8\u816b\u306a\u3069\u306e\u8eab\u4f53\u7684\u306a\u8ab2\u984c\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u533b\u5b66\u7684\u306a\u7ba1\u7406\u3092\u884c\u3046\u3053\u3068\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>7. \u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30e9\u30f3\u30ac\u30fc\u30fb\u30ae\u30c7\u30aa\u30f3\u75c7\u5019\u7fa4\uff08LGS\uff09\u306f\u30018\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u5fae\u7d30\u6b20\u5931\u306b\u3088\u308b\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u4e3b\u306a\u539f\u56e0\u306f<strong>TRPS1\u907a\u4f1d\u5b50<\/strong>\uff08\u9854\u8c8c\u30fb\u9aea\u30fb\u6307\uff09\u3068<strong>EXT1\u907a\u4f1d\u5b50<\/strong>\uff08\u5916\u9aa8\u816b\uff09\u306e\u6b20\u5931\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3001\u8584\u3044\u9aea\u3001\u591a\u767a\u6027\u5916\u9aa8\u816b\uff08\u9aa8\u306e\u3053\u3076\uff09\u3001\u77e5\u7684\u767a\u9054\u306e\u3086\u3063\u304f\u308a\u3055<\/strong>\u306a\u3069\u304c\u4e3b\u306a\u75c7\u72b6\u3067\u3059\u304c\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001<strong>\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u7ba1\u7406\uff08\u7279\u306e\u9aa8\u306e\u7ba1\u7406\uff09\u3068\u7642\u80b2<\/strong>\u304c\u975e\u5e38\u306b\u6709\u52b9\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u7684\u306a\u53d7\u8a3a<\/strong>\u3092\u7d9a\u3051\u308b\u3053\u3068\u3067\u3001\u5408\u4f75\u75c7\u3092\u4e88\u9632\u30fb\u7ba1\u7406\u3057\u3001\u304a\u5b50\u69d8\u306e\u5065\u3084\u304b\u306a\u6210\u9577\u3092\u652f\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"\u304a\u5b50\u69d8\u304c\u300c\u30e9\u30f3\u30ac\u30fc\u30fb\u30ae\u30c7\u30aa\u30f3\u75c7\u5019\u7fa4\uff08La&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/langer-giedion-syndrome-trps2\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":121737,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-121734","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\/121734","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=121734"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121734\/revisions"}],"predecessor-version":[{"id":121741,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121734\/revisions\/121741"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/121737"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121734"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=121734"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=121734"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}