{"id":122698,"date":"2026-01-14T17:00:55","date_gmt":"2026-01-14T08:00:55","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122698"},"modified":"2026-03-31T16:06:26","modified_gmt":"2026-03-31T07:06:26","slug":"mdmhb-syndrome-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/mdmhb-syndrome-guide\/","title":{"rendered":"\u77ed\u6307\u3092\u4f34\u3046\u3001\u3042\u308b\u3044\u306f\u4f34\u308f\u306a\u3044\u4e0a\u984e\u4f4e\u5f62\u6210\u3092\u4f34\u3046\u9aa8\u5e79\u7aef\u7570\u5f62\u6210\u75c7\uff08MDMHB\u75c7\u5019\u7fa4\uff09\u5fb9\u5e95\u30ac\u30a4\u30c9"},"content":{"rendered":"\n<p>\u300cMetaphyseal Dysplasia with Maxillary Hypoplasia with or without Brachydactyly\u300d\u3068\u3044\u3046\u3001\u975e\u5e38\u306b\u9577\u304f\u3001\u305d\u3057\u3066\u805e\u304d\u6163\u308c\u306a\u3044\u8a3a\u65ad\u540d\u3092\u805e\u304d\u3001\u60c5\u5831\u3092\u6c42\u3081\u3066\u3053\u306e\u30da\u30fc\u30b8\u306b\u305f\u3069\u308a\u7740\u304b\u308c\u305f\u3054\u5bb6\u65cf\u306e\u65b9\u3078\u3002<\/p>\n\n\n\n<p>\u533b\u5e2b\u304b\u3089\u300c\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308b\u9aa8\u306e\u75c5\u6c17\u3067\u3059\u300d\u3068\u8aac\u660e\u3092\u53d7\u3051\u3001\u3055\u3089\u306b\u300c\u4e0a\u984e\u304c\u5c0f\u3055\u3044\u300d\u3084\u300c\u9aa8\u306e\u5f62\u304c\u5909\u308f\u3063\u3066\u3044\u307e\u3059\u300d\u3068\u3044\u3063\u305f\u5c02\u9580\u7684\u306a\u8a71\u3092\u3055\u308c\u3066\u3001\u307e\u3060\u5177\u4f53\u7684\u306a\u30a4\u30e1\u30fc\u30b8\u304c\u6e67\u304b\u305a\u306b\u6238\u60d1\u3063\u3066\u3044\u3089\u3063\u3057\u3083\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u3053\u306e\u75c5\u6c17\u306f\u4e16\u754c\u7684\u306b\u898b\u3066\u3082\u5831\u544a\u6570\u304c\u5c11\u306a\u3044\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u75be\u60a3\uff08\u30a6\u30eb\u30c8\u30e9\u30fb\u30ec\u30a2\u30fb\u30c7\u30a3\u30b8\u30fc\u30ba\uff09\u306e\u4e00\u3064\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3057\u3066\u3082\u65e5\u672c\u8a9e\u306e\u8a73\u3057\u3044\u60c5\u5831\u306f\u307b\u3068\u3093\u3069\u898b\u3064\u304b\u3089\u305a\u3001\u300c\u3053\u308c\u304b\u3089\u3069\u3046\u306a\u3063\u3066\u3057\u307e\u3046\u306e\u304b\u300d\u300c\u4ed6\u306b\u540c\u3058\u75c5\u6c17\u306e\u4eba\u306f\u3044\u308b\u306e\u304b\u300d\u3068\u3044\u3046\u5b64\u72ec\u3084\u4e0d\u5b89\u3092\u611f\u3058\u3066\u3044\u3089\u3063\u3057\u3083\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9577\u3044\u75c5\u540d\u306f\u3001\u533b\u5b66\u7684\u306a\u7279\u5fb4\u3092\u305d\u306e\u307e\u307e\u8a18\u8ff0\u3057\u305f\u6b63\u5f0f\u540d\u79f0\u3067\u3059\u304c\u3001\u82f1\u8a9e\u306e\u982d\u6587\u5b57\u3092\u3068\u3063\u3066MDMHB\uff08\u30a8\u30e0\u30c7\u30a3\u30fc\u30a8\u30e0\u30a8\u30a4\u30c1\u30d3\u30fc\uff09\u75c7\u5019\u7fa4\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u9aa8\u3092\u4f5c\u308b\u305f\u3081\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059RUNX2\uff08\u30e9\u30f3\u30af\u30b9\u30c4\u30fc\uff09\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306b\u3001\u7279\u5b9a\u306e\u5909\u5316\u304c\u8d77\u304d\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u751f\u307e\u308c\u3064\u304d\u306e\u4f53\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u7279\u5fb4\u306f\u3001\u4e0a\u3042\u3054\uff08\u4e0a\u984e\u9aa8\uff09\u306e\u6210\u9577\u304c\u63a7\u3048\u3081\u3067\u3042\u308b\u3053\u3068\u3001\u624b\u8db3\u306e\u9aa8\u306e\u7aef\u3063\u3053\uff08\u9aa8\u5e79\u7aef\uff09\u306e\u5f62\u304c\u5909\u308f\u3063\u3066\u3044\u308b\u3053\u3068\u3001\u305d\u3057\u3066\u6307\u304c\u77ed\u3044\u5834\u5408\u304c\u3042\u308b\u3053\u3068\u306a\u3069\u3067\u3059\u3002\u307e\u305f\u3001\u9396\u9aa8\u304c\u592a\u304f\u306a\u308b\u3068\u3044\u3046\u30e6\u30cb\u30fc\u30af\u306a\u7279\u5fb4\u3082\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5e0c\u5c11\u306a\u75c5\u6c17\u3067\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u8fd1\u5e74\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u6280\u8853\u304c\u9032\u6b69\u3057\u305f\u3053\u3068\u3067\u3001\u539f\u56e0\u304c\u7279\u5b9a\u3055\u308c\u3001\u5c11\u3057\u305a\u3064\u3053\u306e\u75c5\u6c17\u306e\u6b63\u4f53\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u9396\u9aa8\u982d\u84cb\u7570\u5f62\u6210\u75c7\u3068\u3044\u3046\u6bd4\u8f03\u7684\u77e5\u3089\u308c\u305f\u9aa8\u306e\u75c5\u6c17\u3068\u3001\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306f\u540c\u3058\u3067\u3059\u304c\u3001\u5909\u5316\u306e\u4ed5\u65b9\u304c\u7570\u306a\u308b\u300c\u5144\u5f1f\u300d\u306e\u3088\u3046\u306a\u95a2\u4fc2\u306b\u3042\u308b\u3053\u3068\u3082\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001MDMHB\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066\u3001\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u306a\u306e\u304b\u3001\u5168\u8eab\u306b\u73fe\u308c\u308b\u7279\u5fb4\u3001\u539f\u56e0\u3068\u306a\u308bRUNX2\u907a\u4f1d\u5b50\u306e\u4ed5\u7d44\u307f\u3001\u6cbb\u7642\u3084\u751f\u6d3b\u3067\u306e\u6ce8\u610f\u70b9\u3001\u305d\u3057\u3066\u3053\u308c\u304b\u3089\u306e\u751f\u6d3b\u3067\u4f55\u306b\u6c17\u3092\u3064\u3051\u308c\u3070\u3088\u3044\u306e\u304b\u3092\u3001\u5c02\u9580\u7528\u8a9e\u3092\u8a00\u8449\u306e\u4e2d\u306b\u6eb6\u3051\u8fbc\u307e\u305b\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305a\u6700\u521d\u306b\u304a\u4f1d\u3048\u3057\u305f\u3044\u306e\u306f\u3001\u8a3a\u65ad\u540d\u306f\u304a\u5b50\u3055\u3093\u306e\u672a\u6765\u309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>4. \u305d\u306e\u4ed6\u306e\u7279\u5fb4<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mdmhb-syndrome-guide\/#%E5%8E%9F%E5%9B%A0\" >\u539f\u56e0<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mdmhb-syndrome-guide\/#RUNX2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\" >RUNX2\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mdmhb-syndrome-guide\/#%E4%BD%95%E3%81%8C%E8%B5%B7%E3%81%8D%E3%81%A6%E3%81%84%E3%82%8B%E3%81%AE%E3%81%8B%EF%BC%88%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E9%87%8D%E8%A4%87%EF%BC%89\" >\u4f55\u304c\u8d77\u304d\u3066\u3044\u308b\u306e\u304b\uff08\u907a\u4f1d\u5b50\u306e\u91cd\u8907\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mdmhb-syndrome-guide\/#%E9%81%BA%E4%BC%9D%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\" >\u907a\u4f1d\u306b\u3064\u3044\u3066<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mdmhb-syndrome-guide\/#%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\" >\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-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mdmhb-syndrome-guide\/#1_%E8%87%A8%E5%BA%8A%E8%A8%BA%E6%96%AD%E3%81%A8%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\" >1. \u81e8\u5e8a\u8a3a\u65ad\u3068\u753b\u50cf\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mdmhb-syndrome-guide\/#2_%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\" >2. \u907a\u4f1d\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-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mdmhb-syndrome-guide\/#%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\" >\u6cbb\u7642\u3068\u7ba1\u7406<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mdmhb-syndrome-guide\/#1_%E6%AD%AF%E7%A7%91%E6%B2%BB%E7%99%82%EF%BC%88%E9%9D%9E%E5%B8%B8%E3%81%AB%E9%87%8D%E8%A6%81%EF%BC%89\" >1. \u6b6f\u79d1\u6cbb\u7642\uff08\u975e\u5e38\u306b\u91cd\u8981\uff09<\/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\/mdmhb-syndrome-guide\/#2_%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E7%9A%84%E3%82%B1%E3%82%A2\" >2. \u6574\u5f62\u5916\u79d1\u7684\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\/mdmhb-syndrome-guide\/#3_%E5%BD%A2%E6%88%90%E5%A4%96%E7%A7%91%E7%9A%84%E3%82%B1%E3%82%A2\" >3. \u5f62\u6210\u5916\u79d1\u7684\u30b1\u30a2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mdmhb-syndrome-guide\/#4_%E6%97%A5%E5%B8%B8%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E6%B3%A8%E6%84%8F%E7%82%B9\" >4. \u65e5\u5e38\u751f\u6d3b\u3067\u306e\u6ce8\u610f\u70b9<\/a><\/li><\/ul><\/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\/mdmhb-syndrome-guide\/#%E3%81%BE%E3%81%A8%E3%82%81\" >\u307e\u3068\u3081<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%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>\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>\u307e\u305a\u3001\u3053\u306e\u975e\u5e38\u306b\u9577\u3044\u75c5\u540d\u304c\u3069\u306e\u3088\u3046\u306a\u610f\u5473\u3092\u6301\u3063\u3066\u3044\u308b\u306e\u304b\u3001\u305d\u3057\u3066\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u306a\u306e\u304b\u3092\u7406\u89e3\u3057\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%90%8D%E3%81%AE%E6%84%8F%E5%91%B3%E3%81%A8%E5%88%86%E8%A7%A3\"><\/span><strong>\u75c5\u540d\u306e\u610f\u5473\u3068\u5206\u89e3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u540d\u306f\u3001\u4e3b\u306a3\u3064\u306e\u8eab\u4f53\u7684\u7279\u5fb4\u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u9aa8\u5e79\u7aef\u7570\u5f62\u6210\uff08Metaphyseal Dysplasia\uff09\uff1a<br>\u300c\u9aa8\u5e79\u7aef\u300d\u3068\u306f\u3001\u8155\u3084\u8db3\u306b\u3042\u308b\u9577\u3044\u9aa8\u306e\u4e21\u7aef\u3001\u95a2\u7bc0\u306b\u8fd1\u3044\u90e8\u5206\u306e\u3053\u3068\u3067\u3059\u3002\u3053\u3053\u306e\u5f62\u304c\u5e83\u304c\u3063\u3066\u3044\u305f\u308a\u3001\u69cb\u9020\u304c\u5909\u308f\u3063\u3066\u3044\u305f\u308a\u3059\u308b\u3053\u3068\u3092\u6307\u3057\u307e\u3059\u3002\u30ec\u30f3\u30c8\u30b2\u30f3\u3092\u64ae\u308b\u3068\u3001\u9aa8\u306e\u7aef\u304c\u30e9\u30c3\u30d1\u306e\u3088\u3046\u306b\u5e83\u304c\u3063\u3066\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e0a\u984e\u4f4e\u5f62\u6210\uff08Maxillary Hypoplasia\uff09\uff1a<br>\u4e0a\u3042\u3054\uff08\u4e0a\u984e\u9aa8\uff09\u306e\u6210\u9577\u304c\u5f31\u304f\u3001\u9854\u306e\u4e2d\u592e\u90e8\u5206\u304c\u5c11\u3057\u5965\u307e\u3063\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u77ed\u6307\u3092\u4f34\u3046\u3001\u3042\u308b\u3044\u306f\u4f34\u308f\u306a\u3044\uff08with or without Brachydactyly\uff09\uff1a<br>\u300c\u77ed\u6307\u300d\u3068\u306f\u3001\u6307\u306e\u9aa8\u304c\u77ed\u3044\u305f\u3081\u306b\u6307\u5168\u4f53\u304c\u77ed\u304f\u898b\u3048\u308b\u3053\u3068\u3067\u3059\u3002\u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u6307\u304c\u77ed\u3044\u60a3\u8005\u3055\u3093\u3082\u3044\u308c\u3070\u3001\u77ed\u304f\u306a\u3044\u60a3\u8005\u3055\u3093\u3082\u3044\u308b\u305f\u3081\u3001\u3053\u306e\u3088\u3046\u306a\u8868\u73fe\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u3053\u308c\u3089\u3092\u307e\u3068\u3081\u3066\u3001MDMHB\u75c7\u5019\u7fa4\u3068\u547c\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%AA%A8%E7%B3%BB%E7%B5%B1%E7%96%BE%E6%82%A3%E3%81%AE%E4%B8%80%E3%81%A4\"><\/span><strong>\u9aa8\u7cfb\u7d71\u75be\u60a3\u306e\u4e00\u3064<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u9aa8\u3084\u8edf\u9aa8\u306e\u6210\u9577\u306b\u5f71\u97ff\u304c\u51fa\u308b\u300c\u9aa8\u7cfb\u7d71\u75be\u60a3\u300d\u3068\u3044\u3046\u30b0\u30eb\u30fc\u30d7\u306b\u5c5e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9aa8\u7cfb\u7d71\u75be\u60a3\u306b\u306f\u6570\u767e\u7a2e\u985e\u4ee5\u4e0a\u306e\u75c5\u6c17\u304c\u3042\u308a\u307e\u3059\u304c\u3001MDMHB\u306f\u305d\u306e\u4e2d\u3067\u3082\u975e\u5e38\u306b\u7a00\u306a\u30bf\u30a4\u30d7\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u9aa8\u304c\u5f31\u304f\u306a\u308a\u3084\u3059\u304b\u3063\u305f\u308a\u3001\u8eab\u9577\u304c\u4f38\u3073\u306b\u304f\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u77e5\u7684\u306a\u767a\u9054\u306b\u306f\u57fa\u672c\u7684\u306b\u5f71\u97ff\u304c\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%8E%96%E9%AA%A8%E9%A0%AD%E8%93%8B%E7%95%B0%E5%BD%A2%E6%88%90%E7%97%87%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>\u9396\u9aa8\u982d\u84cb\u7570\u5f62\u6210\u75c7\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u3092\u7406\u89e3\u3059\u308b\u4e0a\u3067\u3001\u9396\u9aa8\u982d\u84cb\u7570\u5f62\u6210\u75c7\uff08CCD\uff09\u3068\u3044\u3046\u75c5\u6c17\u306e\u3053\u3068\u3092\u77e5\u3063\u3066\u304a\u304f\u3068\u5f79\u7acb\u3064\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>CCD\u306f\u3001\u30c9\u30e9\u30de\u306e\u984c\u6750\u306b\u306a\u3063\u305f\u308a\u3057\u3066\u6bd4\u8f03\u7684\u77e5\u540d\u5ea6\u304c\u3042\u308b\u75c5\u6c17\u3067\u3001\u80a9\u5e45\u304c\u72ed\u304f\uff08\u9396\u9aa8\u304c\u306a\u3044\u3001\u307e\u305f\u306f\u5c0f\u3055\u3044\uff09\u3001\u982d\u306e\u9aa8\u304c\u9589\u3058\u308b\u306e\u304c\u9045\u3044\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5b9f\u306f\u3001MDMHB\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308bRUNX2\u306f\u3001CCD\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u540c\u3058\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001CCD\u304c\u300c\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u304c\u5931\u308f\u308c\u308b\u300d\u3053\u3068\u3067\u8d77\u304d\u308b\u306e\u306b\u5bfe\u3057\u3001MDMHB\u306f\u300c\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u304c\u5f37\u307e\u308a\u3059\u304e\u308b\uff08\u5897\u3048\u308b\uff09\u300d\u3053\u3068\u3067\u8d77\u304d\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u305f\u3081\u3001\u75c7\u72b6\u304c\u5bfe\u7167\u7684\u306b\u306a\u308b\u90e8\u5206\u304c\u3042\u308a\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001CCD\u3067\u306f\u9396\u9aa8\u304c\u5c0f\u3055\u3044\u306e\u306b\u5bfe\u3057\u3001MDMHB\u3067\u306f\u9396\u9aa8\u304c\u592a\u304f\u5927\u304d\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span><strong>\u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>MDMHB\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u3001\u9aa8\u3084\u6b6f\u3001\u9854\u7acb\u3061\u306b\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u306e\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u4e00\u898b\u3057\u3066\u308f\u304b\u308b\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u30ec\u30f3\u30c8\u30b2\u30f3\u3092\u64ae\u3063\u3066\u521d\u3081\u3066\u6c17\u3065\u304f\u3088\u3046\u306a\u8efd\u5ea6\u306e\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E9%A1%94%E8%B2%8C%E3%81%A8%E5%8F%A3%E8%85%94%E5%86%85%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>1. \u9854\u8c8c\u3068\u53e3\u8154\u5185\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3054\u5bb6\u65cf\u304c\u300c\u5c11\u3057\u9854\u3064\u304d\u304c\u7279\u5fb4\u7684\u304b\u306a\uff1f\u300d\u3068\u611f\u3058\u305f\u308a\u3001\u6b6f\u533b\u8005\u3055\u3093\u3067\u6307\u6458\u3055\u308c\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e0a\u984e\u4f4e\u5f62\u6210\uff08\u4e2d\u9854\u9762\u4f4e\u5f62\u6210\uff09<\/p>\n\n\n\n<p>\u4e0a\u3042\u3054\u306e\u9aa8\u306e\u6210\u9577\u304c\u3086\u3063\u304f\u308a\u306a\u305f\u3081\u3001\u9854\u306e\u771f\u3093\u4e2d\u3042\u305f\u308a\u304c\u5c11\u3057\u5e73\u5766\u306b\u898b\u3048\u305f\u308a\u3001\u7aaa\u3093\u3067\u898b\u3048\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u76f8\u5bfe\u7684\u306b\u4e0b\u3042\u3054\u304c\u51fa\u3066\u3044\u308b\u3088\u3046\u306b\u898b\u3048\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\uff08\u53d7\u3051\u53e3\uff09\u3002<\/p>\n\n\n\n<p>\u9f3b\u3068\u4e0a\u5507\u306e\u9593\uff08\u4eba\u4e2d\uff09\u304c\u77ed\u304b\u3063\u305f\u308a\u3001\u4e0a\u5507\u304c\u8584\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9f3b\u7b4b\u304c\u5c11\u3057\u76db\u308a\u4e0a\u304c\u3063\u3066\u3001\u9df2\u9f3b\u306e\u3088\u3046\u306a\u5f62\uff08Beaked nose\uff09\u306b\u306a\u308b\u3053\u3068\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b6f\u306e\u7570\u5e38<\/p>\n\n\n\n<p>\u6b6f\u306e\u30a8\u30ca\u30e1\u30eb\u8cea\u304c\u8584\u304b\u3063\u305f\u308a\u3001\u5f62\u6210\u304c\u4e0d\u5b8c\u5168\u3060\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u305f\u3081\u3001\u6b6f\u304c\u9ec4\u8272\u3063\u307d\u304f\u898b\u3048\u305f\u308a\u3001\u866b\u6b6f\u306b\u306a\u308a\u3084\u3059\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u6b6f\u306e\u751f\u3048\u5909\u308f\u308a\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u304b\u3063\u305f\u308a\u3001\u6b6f\u4e26\u3073\u304c\u60aa\u304f\u306a\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b6f\u79d1\u7684\u306a\u30b1\u30a2\u306f\u3001\u3053\u306e\u75c5\u6c17\u306e\u7ba1\u7406\u306b\u304a\u3044\u3066\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E9%AA%A8%E6%A0%BC%E3%81%A8%E4%BD%93%E6%A0%BC%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>2. \u9aa8\u683c\u3068\u4f53\u683c\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5168\u8eab\u306e\u9aa8\u306b\u7279\u5fb4\u7684\u306a\u5909\u5316\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4f4e\u8eab\u9577<\/p>\n\n\n\n<p>\u8eab\u9577\u306e\u4f38\u3073\u304c\u7de9\u3084\u304b\u3067\u3001\u540c\u5e74\u4ee3\u306e\u5e73\u5747\u3088\u308a\u3082\u4f4e\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u3001\u9aa8\u306e\u6210\u9577\u3059\u308b\u90e8\u5206\uff08\u9aa8\u5e79\u7aef\uff09\u306e\u7570\u5e38\u306b\u3088\u308a\u3001\u9aa8\u304c\u9577\u304f\u4f38\u3073\u308b\u529b\u304c\u5f31\u3044\u305f\u3081\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9396\u9aa8\u306e\u80a5\u5927<\/p>\n\n\n\n<p>\u3053\u308c\u306fMDMHB\u306b\u975e\u5e38\u306b\u7279\u5fb4\u7684\u306a\u30b5\u30a4\u30f3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u9396\u9aa8\u3001\u7279\u306b\u9996\u306b\u8fd1\u3044\u5185\u5074\u306e\u90e8\u5206\u304c\u3001\u901a\u5e38\u3088\u308a\u3082\u592a\u304f\u5927\u304d\u304f\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u898b\u305f\u76ee\u3067\u308f\u304b\u308b\u3053\u3068\u3082\u3042\u308c\u3070\u3001\u30ec\u30f3\u30c8\u30b2\u30f3\u3067\u521d\u3081\u3066\u308f\u304b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9396\u9aa8\u982d\u84cb\u7570\u5f62\u6210\u75c7\uff08CCD\uff09\u3067\u306f\u9396\u9aa8\u304c\u6b20\u640d\u3057\u305f\u308a\u7d30\u304f\u306a\u3063\u305f\u308a\u3059\u308b\u306e\u3068\u6b63\u53cd\u5bfe\u306e\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u9aa8\u5e79\u7aef\u306e\u62e1\u5927\uff08Flaring\uff09<\/p>\n\n\n\n<p>\u5927\u817f\u9aa8\uff08\u592a\u3082\u3082\u306e\u9aa8\uff09\u3084\u811b\u9aa8\uff08\u3059\u306d\u306e\u9aa8\uff09\u306a\u3069\u306e\u9577\u3044\u9aa8\u306e\u7aef\u3063\u3053\u304c\u3001\u30d5\u30e9\u30b9\u30b3\u3084\u30e9\u30c3\u30d1\u306e\u3088\u3046\u306b\u5e83\u304c\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306b\u3088\u308a\u3001\u819d\u306e\u95a2\u7bc0\u304c\u5927\u304d\u304f\u898b\u3048\u305f\u308a\u3001X\u811a\u6c17\u5473\uff08\u5916\u53cd\u819d\uff09\u306b\u306a\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9aa8\u76ae\u8cea\u306e\u83f2\u8584\u5316<\/p>\n\n\n\n<p>\u9aa8\u306e\u5916\u5074\u306b\u3042\u308b\u786c\u3044\u5c64\uff08\u76ae\u8cea\u9aa8\uff09\u304c\u8584\u304f\u306a\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306b\u3088\u308a\u3001\u9aa8\u306e\u5f37\u5ea6\u304c\u5c11\u3057\u5f31\u304f\u306a\u308a\u3001\u9aa8\u6298\u3057\u3084\u3059\u304f\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\uff08\u9aa8\u7c97\u9b06\u75c7\u69d8\u306e\u5909\u5316\uff09\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E6%89%8B%E8%B6%B3%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>3. \u624b\u8db3\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6307\u306e\u5909\u5316<\/p>\n\n\n\n<p>\u75c5\u540d\u306b\u300c\u4f34\u3046\u3001\u3042\u308b\u3044\u306f\u4f34\u308f\u306a\u3044\u300d\u3068\u3042\u308b\u901a\u308a\u3001\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u624b\u306e\u6307\u3084\u8db3\u306e\u6307\u304c\u77ed\u3044\u77ed\u6307\u75c7\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u624b\u306e\u5c0f\u6307\u306e\u4e2d\u307b\u3069\u306e\u9aa8\uff08\u4e2d\u7bc0\u9aa8\uff09\u3084\u3001\u624b\u306e\u7532\u306e\u9aa8\uff08\u4e2d\u624b\u9aa8\uff09\u304c\u77ed\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u722a\u306e\u5f62\u304c\u5c11\u3057\u5909\u308f\u3063\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>4. \u305d\u306e\u4ed6\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u75db\u307f\u3084\u75b2\u52b4\u611f<\/p>\n\n\n\n<p>\u9aa8\u306e\u5909\u5f62\u3084\u95a2\u7bc0\u306e\u565b\u307f\u5408\u308f\u305b\u306e\u554f\u984c\u304b\u3089\u3001\u95a2\u7bc0\u75db\u304c\u51fa\u305f\u308a\u3001\u9577\u6642\u9593\u6b69\u304f\u3068\u75b2\u308c\u3084\u3059\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u77e5\u7684\u306a\u767a\u9054<\/p>\n\n\n\n<p>\u57fa\u672c\u7684\u306b\u3001\u77e5\u7684\u306a\u767a\u9054\u306b\u306f\u9045\u308c\u304c\u306a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u901a\u5e38\u306e\u5b66\u6821\u306b\u901a\u3044\u3001\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u9aa8\u306e\u75c5\u6c17\u5168\u822c\u306b\u8a00\u3048\u308b\u3053\u3068\u3067\u3059\u304c\u3001\u805e\u3053\u3048\uff08\u8074\u529b\uff09\u306b\u554f\u984c\u304c\u51fa\u308b\u3053\u3068\u304c\u7a00\u306b\u3042\u308b\u305f\u3081\u3001\u5ff5\u306e\u305f\u3081\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\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\/09\/26103395_s.webp\" alt=\"\u30cf\u30fc\u30c8\" class=\"wp-image-116382\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0\"><\/span><strong>\u539f\u56e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u306a\u305c\u3001\u9aa8\u306e\u5f62\u304c\u5909\u308f\u3063\u305f\u308a\u3001\u4e0a\u3042\u3054\u304c\u5c0f\u3055\u304f\u306a\u3063\u305f\u308a\u3059\u308b\u306e\u3067\u3057\u3087\u3046\u304b\u3002\u305d\u306e\u539f\u56e0\u306f\u3001\u9aa8\u3092\u4f5c\u308b\u6307\u4ee4\u3092\u51fa\u3059\u300c\u53f8\u4ee4\u5854\u300d\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3059\u304e\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"RUNX2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>RUNX2\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u539f\u56e0\u306f\u3001\u7b2c6\u756a\u67d3\u8272\u4f53\u306b\u3042\u308bRUNX2\uff08\u30e9\u30f3\u30af\u30b9\u30c4\u30fc\uff09\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u3059\u3002<\/p>\n\n\n\n<p>RUNX2\u907a\u4f1d\u5b50\u306f\u3001\u9aa8\u3092\u4f5c\u308b\u7d30\u80de\uff08\u9aa8\u82bd\u7d30\u80de\uff09\u304c\u6210\u719f\u3059\u308b\u305f\u3081\u306b\u5fc5\u8981\u4e0d\u53ef\u6b20\u306a\u3001\u300c\u30de\u30b9\u30bf\u30fc\u8ee2\u5199\u56e0\u5b50\u300d\u3068\u547c\u3070\u308c\u308b\u975e\u5e38\u306b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7c21\u5358\u306b\u8a00\u3046\u3068\u3001\u4f53\u306e\u7d30\u80de\u306b\u5bfe\u3057\u3066\u300c\u9aa8\u306b\u306a\u308a\u306a\u3055\u3044\u300d\u300c\u9aa8\u3092\u786c\u304f\u3057\u306a\u3055\u3044\u300d\u3068\u3044\u3046\u547d\u4ee4\u3092\u51fa\u3059\u7dcf\u76e3\u7763\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BD%95%E3%81%8C%E8%B5%B7%E3%81%8D%E3%81%A6%E3%81%84%E3%82%8B%E3%81%AE%E3%81%8B%EF%BC%88%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E9%87%8D%E8%A4%87%EF%BC%89\"><\/span><strong>\u4f55\u304c\u8d77\u304d\u3066\u3044\u308b\u306e\u304b\uff08\u907a\u4f1d\u5b50\u306e\u91cd\u8907\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>MDMHB\u75c7\u5019\u7fa4\u3067\u306f\u3001\u3053\u306eRUNX2\u907a\u4f1d\u5b50\u306e\u4e00\u90e8\uff08\u7279\u5b9a\u306e\u30a8\u30af\u30bd\u30f3\u3092\u542b\u3080\u9818\u57df\uff09\u304c\u91cd\u8907\u3057\u3066\u3044\u307e\u3059\u3002\u3064\u307e\u308a\u3001\u907a\u4f1d\u5b50\u306e\u30b3\u30d4\u30fc\u304c\u5897\u3048\u3066\u3057\u307e\u3063\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u901a\u5e38\u3001\u907a\u4f1d\u5b50\u306f2\u3064\u30671\u30bb\u30c3\u30c8\u3067\u3059\u304c\u3001\u3053\u306e\u75c5\u6c17\u306e\u60a3\u8005\u3055\u3093\u3067\u306f\u3001RUNX2\u907a\u4f1d\u5b50\u306e\u91cd\u8981\u306a\u90e8\u5206\u304c\u5897\u3048\u3066\u3044\u308b\u305f\u3081\u3001RUNX2\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u904e\u5270\u306b\u4f5c\u3089\u308c\u305f\u308a\u3001\u50cd\u304d\u3059\u304e\u305f\u308a\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3092\u5c02\u9580\u7684\u306b\u306f\u300c\u6a5f\u80fd\u7372\u5f97\u578b\u5909\u7570\uff08Gain of function\uff09\u300d\u3068\u547c\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9aa8\u3092\u4f5c\u308b\u547d\u4ee4\u304c\u5f37\u3059\u304e\u308b\u3001\u3042\u308b\u3044\u306f\u30bf\u30a4\u30df\u30f3\u30b0\u304c\u305a\u308c\u3066\u904e\u5270\u306b\u51fa\u3055\u308c\u308b\u3053\u3068\u3067\u3001\u9aa8\u306e\u7aef\u3063\u3053\u304c\u5e83\u304c\u308a\u3059\u304e\u305f\u308a\u3001\u9396\u9aa8\u304c\u592a\u304f\u306a\u308a\u3059\u304e\u305f\u308a\u3001\u9006\u306b\u4e0a\u3042\u3054\u306e\u6210\u9577\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u305f\u308a\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\uff08\u53c2\u8003\uff1a\u9006\u306bRUNX2\u907a\u4f1d\u5b50\u304c\u58ca\u308c\u3066\u6a5f\u80fd\u3057\u306a\u304f\u306a\u308b\u3068\u3001\u9aa8\u3092\u4f5c\u308b\u547d\u4ee4\u304c\u51fa\u305b\u306a\u304f\u306a\u308a\u3001\u9396\u9aa8\u304c\u4f5c\u3089\u308c\u306a\u304b\u3063\u305f\u308a\u982d\u306e\u9aa8\u304c\u9589\u3058\u306a\u304b\u3063\u305f\u308a\u3059\u308b\u300c\u9396\u9aa8\u982d\u84cb\u7570\u5f62\u6210\u75c7\u300d\u306b\u306a\u308a\u307e\u3059\u3002\uff09<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\"><\/span><strong>\u907a\u4f1d\u306b\u3064\u3044\u3066<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\uff08\u512a\u6027\u907a\u4f1d\uff09\u3068\u3044\u3046\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4eba\u9593\u306f\u907a\u4f1d\u5b50\u30922\u672c\u30bb\u30c3\u30c8\u3067\u6301\u3063\u3066\u3044\u307e\u3059\u304c\u3001\u305d\u306e\u3046\u3061\u306e\u7247\u65b9\u306eRUNX2\u907a\u4f1d\u5b50\u306b\u91cd\u8907\u306a\u3069\u306e\u5909\u5316\u304c\u3042\u308c\u3070\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u89aa\u304b\u3089\u5b50\u3078\u306e\u907a\u4f1d<\/p>\n\n\n\n<p>\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304cMDMHB\u75c7\u5019\u7fa4\u3067\u3042\u308b\u5834\u5408\u3001\u304a\u5b50\u3055\u3093\u306b\u907a\u4f1d\u3059\u308b\u78ba\u7387\u306f50\u30d1\u30fc\u30bb\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308b\u305f\u3081\u3001\u304a\u5b50\u3055\u3093\u304c\u8a3a\u65ad\u3055\u308c\u305f\u5f8c\u306b\u3054\u4e21\u89aa\u3092\u8abf\u3079\u3066\u307f\u305f\u3089\u3001\u5b9f\u306f\u89aa\u5fa1\u3055\u3093\u3082\u8efd\u5ea6\u306e\u75c7\u72b6\u3092\u6301\u3063\u3066\u3044\u305f\u3053\u3068\u304c\u5224\u660e\u3059\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7a81\u7136\u5909\u7570<\/p>\n\n\n\n<p>\u3054\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306f\u6b63\u5e38\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u4ee3\u3067\u521d\u3081\u3066\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u8d77\u3053\u308b\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09\u306e\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u3001\u53d7\u7cbe\u5375\u304c\u3067\u304d\u308b\u904e\u7a0b\u3067\u5076\u7136\u306b\u8d77\u304d\u305f\u5909\u5316\u3067\u3042\u308a\u3001\u8ab0\u306e\u305b\u3044\u3067\u3082\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306f\u3001\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u306e\u89b3\u5bdf\u3001\u30ec\u30f3\u30c8\u30b2\u30f3\u306a\u3069\u306e\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<p>\u975e\u5e38\u306b\u7a00\u306a\u75c5\u6c17\u3067\u3042\u308b\u305f\u3081\u3001\u8a3a\u65ad\u304c\u3064\u304f\u307e\u3067\u306b\u6642\u9593\u304c\u304b\u304b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E8%87%A8%E5%BA%8A%E8%A8%BA%E6%96%AD%E3%81%A8%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\"><\/span><strong>1. \u81e8\u5e8a\u8a3a\u65ad\u3068\u753b\u50cf\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u533b\u5e2b\u306f\u3001\u9854\u7acb\u3061\u3084\u4f53\u3064\u304d\u306e\u7279\u5fb4\u306b\u52a0\u3048\u3001\u5168\u8eab\u306e\u9aa8\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\u64ae\u5f71\uff08\u9aa8\u30b5\u30fc\u30d9\u30a4\uff09\u3092\u884c\u3063\u3066\u4ee5\u4e0b\u306e\u70b9\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9396\u9aa8\u306e\u5185\u5074\u304c\u592a\u304f\u306a\u3063\u3066\u3044\u306a\u3044\u304b\u3002<\/li>\n\n\n\n<li>\u9577\u3044\u9aa8\u306e\u7aef\uff08\u9aa8\u5e79\u7aef\uff09\u304c\u5e83\u304c\u3063\u3066\u3044\u306a\u3044\u304b\u3002<\/li>\n\n\n\n<li>\u9aa8\u306e\u76ae\u8cea\u304c\u8584\u304f\u306a\u3063\u3066\u3044\u306a\u3044\u304b\u3002<\/li>\n\n\n\n<li>\u4e0a\u3042\u3054\u306e\u9aa8\u304c\u5c0f\u3055\u3044\u304b\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u7279\u306b\u300c\u9396\u9aa8\u306e\u80a5\u5927\u300d\u3068\u300c\u9aa8\u5e79\u7aef\u306e\u62e1\u5927\u300d\u306e\u7d44\u307f\u5408\u308f\u305b\u306f\u3001\u3053\u306e\u75c5\u6c17\u3092\u7591\u3046\u5927\u304d\u306a\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4f3c\u305f\u3088\u3046\u306a\u9aa8\u306e\u75c5\u6c17\u3067\u3042\u308b\u30d1\u30a4\u30eb\u75c5\uff08Pyle disease\uff09\u306a\u3069\u3068\u306e\u533a\u5225\u3082\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>2. \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\u6700\u3082\u78ba\u5b9f\u306a\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8840\u6db2\u3092\u63a1\u53d6\u3057\u3001DNA\u3092\u89e3\u6790\u3057\u3066RUNX2\u907a\u4f1d\u5b50\u306b\u91cd\u8907\uff08\u30b3\u30d4\u30fc\u6570\u306e\u5909\u5316\uff09\u304c\u3042\u308b\u304b\u3092\u8abf\u3079\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u901a\u5e38\u306e\u907a\u4f1d\u5b50\u914d\u5217\u3092\u8aad\u3080\u691c\u67fb\uff08\u30b7\u30fc\u30b1\u30f3\u30b9\u89e3\u6790\uff09\u3060\u3051\u3067\u306f\u3001\u91cd\u8907\u306e\u3088\u3046\u306a\u91cf\u306e\u5909\u5316\u306f\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001MLPA\u6cd5\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u306a\u3069\u3001\u30b3\u30d4\u30fc\u6570\u306e\u5909\u5316\u3092\u691c\u51fa\u3067\u304d\u308b\u7279\u6b8a\u306a\u691c\u67fb\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\"><\/span><strong>\u6cbb\u7642\u3068\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u5728\u306e\u533b\u5b66\u3067\u306f\u3001\u907a\u4f1d\u5b50\u306e\u91cd\u8907\u3092\u6cbb\u3057\u3066\u75c5\u6c17\u3092\u6839\u672c\u304b\u3089\u306a\u304f\u3059\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3057\u3066\u9069\u5207\u306a\u6cbb\u7642\u3084\u30b1\u30a2\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u3001\u5065\u5eb7\u3092\u7dad\u6301\u3059\u308b\u3053\u3068\u306f\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u6b6f\u79d1\u3001\u6574\u5f62\u5916\u79d1\u3001\u5f62\u6210\u5916\u79d1\u306a\u3069\u304c\u9023\u643a\u3057\u3066\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E6%AD%AF%E7%A7%91%E6%B2%BB%E7%99%82%EF%BC%88%E9%9D%9E%E5%B8%B8%E3%81%AB%E9%87%8D%E8%A6%81%EF%BC%89\"><\/span><strong>1. \u6b6f\u79d1\u6cbb\u7642\uff08\u975e\u5e38\u306b\u91cd\u8981\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>MDMHB\u306e\u60a3\u8005\u3055\u3093\u306b\u3068\u3063\u3066\u3001\u6b6f\u306e\u30b1\u30a2\u306f\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u306b\u76f4\u7d50\u3059\u308b\u91cd\u8981\u306a\u8ab2\u984c\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6b6f\u306e\u30a8\u30ca\u30e1\u30eb\u8cea\u304c\u5f31\u304b\u3063\u305f\u308a\u3001\u565b\u307f\u5408\u308f\u305b\u304c\u60aa\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u65e9\u671f\u304b\u3089\u306e\u6b6f\u79d1\u7ba1\u7406\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u866b\u6b6f\u4e88\u9632\uff1a<\/strong> \u6b6f\u304c\u5f31\u304f\u306a\u308a\u3084\u3059\u3044\u305f\u3081\u3001\u30d5\u30c3\u7d20\u5857\u5e03\u3084\u30b7\u30fc\u30e9\u30f3\u30c8\u306a\u3069\u306e\u4e88\u9632\u51e6\u7f6e\u3092\u7a4d\u6975\u7684\u306b\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u77ef\u6b63\u6cbb\u7642\uff1a<\/strong> \u4e0a\u3042\u3054\u304c\u5c0f\u3055\u3044\u305f\u3081\u306b\u6b6f\u4e26\u3073\u304c\u60aa\u304f\u306a\u3063\u305f\u308a\u3001\u53d7\u3051\u53e3\u306b\u306a\u3063\u305f\u308a\u3059\u308b\u5834\u5408\u306f\u3001\u77ef\u6b63\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002\u4e0a\u3042\u3054\u3092\u5e83\u3052\u308b\u88c5\u7f6e\u306a\u3069\u3092\u4f7f\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u88dc\u7db4\u6cbb\u7642\uff1a<\/strong> \u6b6f\u306e\u8272\u3084\u5f62\u304c\u6c17\u306b\u306a\u308b\u5834\u5408\u306f\u3001\u88ab\u305b\u7269\u306a\u3069\u3092\u3057\u3066\u898b\u305f\u76ee\u3084\u6a5f\u80fd\u3092\u56de\u5fa9\u3055\u305b\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E7%9A%84%E3%82%B1%E3%82%A2\"><\/span><strong>2. \u6574\u5f62\u5916\u79d1\u7684\u30b1\u30a2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9aa8\u306e\u5909\u5f62\u3084\u4f4e\u8eab\u9577\u306b\u5bfe\u3057\u3066\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>X\u811a\u306e\u6cbb\u7642\uff1a<\/strong> \u819d\u306e\u5909\u5f62\u304c\u5f37\u304f\u3001\u6b69\u884c\u306b\u652f\u969c\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u88c5\u5177\u3092\u4f7f\u3063\u305f\u308a\u3001\u6210\u9577\u671f\u306b\u9aa8\u306e\u6210\u9577\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u624b\u8853\uff08\u30a8\u30a4\u30c8\u30d7\u30ec\u30fc\u30c8\u306a\u3069\uff09\u3092\u884c\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u6298\u4e88\u9632\uff1a<\/strong> \u9aa8\u304c\u3084\u3084\u5f31\u3044\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u6fc0\u3057\u3044\u30b3\u30f3\u30bf\u30af\u30c8\u30b9\u30dd\u30fc\u30c4\u306a\u3069\u306f\u6ce8\u610f\u304c\u5fc5\u8981\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u9069\u5ea6\u306a\u904b\u52d5\u306f\u9aa8\u3092\u5f37\u304f\u3059\u308b\u305f\u3081\u306b\u5927\u5207\u3067\u3059\u3002\u4e3b\u6cbb\u533b\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u6d3b\u52d5\u30ec\u30d9\u30eb\u3092\u6c7a\u3081\u307e\u3057\u3087\u3046\u3002<\/li>\n\n\n\n<li><strong>\u6210\u9577\u306e\u30d5\u30a9\u30ed\u30fc\uff1a<\/strong> \u8eab\u9577\u306e\u4f38\u3073\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u5185\u5206\u6ccc\u79d1\u3067\u30db\u30eb\u30e2\u30f3\u306e\u691c\u67fb\u306a\u3069\u3092\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u57fa\u672c\u7684\u306b\u306f\u4f53\u8cea\u7684\u306a\u4f4e\u8eab\u9577\u3068\u3057\u3066\u7d4c\u904e\u3092\u898b\u5b88\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E5%BD%A2%E6%88%90%E5%A4%96%E7%A7%91%E7%9A%84%E3%82%B1%E3%82%A2\"><\/span><strong>3. \u5f62\u6210\u5916\u79d1\u7684\u30b1\u30a2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e0a\u3042\u3054\u306e\u4f4e\u5f62\u6210\u304c\u5f37\u304f\u3001\u565b\u307f\u5408\u308f\u305b\u3084\u547c\u5438\u3001\u898b\u305f\u76ee\u306b\u5927\u304d\u306a\u5f71\u97ff\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u9aa8\u5207\u308a\u8853\u306a\u3069\u306e\u624b\u8853\u306b\u3088\u3063\u3066\u3042\u3054\u306e\u4f4d\u7f6e\u3092\u6574\u3048\u308b\u6cbb\u7642\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u6210\u9577\u304c\u3042\u308b\u7a0b\u5ea6\u7d42\u4e86\u3057\u3066\u304b\u3089\u884c\u3046\u306e\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E6%97%A5%E5%B8%B8%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E6%B3%A8%E6%84%8F%E7%82%B9\"><\/span><strong>4. \u65e5\u5e38\u751f\u6d3b\u3067\u306e\u6ce8\u610f\u70b9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u75db\u307f\u3078\u306e\u5bfe\u5fdc<\/p>\n\n\n\n<p>\u95a2\u7bc0\u75db\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u7121\u7406\u3092\u305b\u305a\u4f11\u3080\u3053\u3068\u3084\u3001\u6e7f\u5e03\u306a\u3069\u306e\u5bfe\u75c7\u7642\u6cd5\u3092\u884c\u3044\u307e\u3059\u3002\u75db\u307f\u304c\u7d9a\u304f\u5834\u5408\u306f\u6574\u5f62\u5916\u79d1\u3092\u53d7\u8a3a\u3057\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u793e\u4f1a\u751f\u6d3b<\/p>\n\n\n\n<p>\u77e5\u7684\u306a\u9045\u308c\u306f\u306a\u3044\u305f\u3081\u3001\u901a\u5e38\u306e\u5b66\u6821\u751f\u6d3b\u3084\u4ed5\u4e8b\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u8eab\u9577\u306e\u3053\u3068\u3084\u9854\u7acb\u3061\u306e\u3053\u3068\u3001\u6b6f\u306e\u3053\u3068\u306a\u3069\u3067\u60a9\u307f\u3092\u6301\u3064\u3053\u3068\u304c\u3042\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u5bb6\u65cf\u3084\u5468\u56f2\u304c\u6c17\u6301\u3061\u306b\u5bc4\u308a\u6dfb\u3044\u3001\u5fc5\u8981\u3067\u3042\u308c\u3070\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306a\u3069\u3092\u5229\u7528\u3057\u3066\u5fc3\u306e\u30b1\u30a2\u3092\u884c\u3046\u3053\u3068\u3082\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>\u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u77ed\u6307\u3092\u4f34\u3046\u3001\u3042\u308b\u3044\u306f\u4f34\u308f\u306a\u3044\u4e0a\u984e\u4f4e\u5f62\u6210\u3092\u4f34\u3046\u9aa8\u5e79\u7aef\u7570\u5f62\u6210\u75c7\uff08MDMHB\u75c7\u5019\u7fa4\uff09\u306b\u3064\u3044\u3066\u306e\u89e3\u8aac\u3092\u307e\u3068\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u75c5\u6c17\u306e\u672c\u8cea\uff1a<\/strong> \u9aa8\u3092\u4f5c\u308b\u53f8\u4ee4\u5854\u3067\u3042\u308bRUNX2\u907a\u4f1d\u5b50\u306e\u91cd\u8907\u306b\u3088\u308a\u3001\u9aa8\u306e\u5f62\u6210\u30d7\u30ed\u30bb\u30b9\u304c\u904e\u5270\u3042\u308b\u3044\u306f\u4e0d\u5747\u8861\u306b\u306a\u308b\u5148\u5929\u6027\u306e\u9aa8\u7cfb\u7d71\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e3b\u306a\u7279\u5fb4\uff1a<\/strong> \u4e0a\u3042\u3054\u304c\u5c0f\u3055\u3044\u3001\u9396\u9aa8\u304c\u592a\u3044\u3001\u624b\u8db3\u306e\u9aa8\u306e\u7aef\u304c\u5e83\u304c\u3063\u3066\u3044\u308b\u3001\u6b6f\u304c\u5f31\u3044\u306a\u3069\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9396\u9aa8\u982d\u84cb\u7570\u5f62\u6210\u75c7\u3068\u306e\u95a2\u4fc2\uff1a<\/strong> \u539f\u56e0\u907a\u4f1d\u5b50\u306f\u540c\u3058\u3067\u3059\u304c\u3001\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u306e\u5909\u5316\u306e\u4ed5\u65b9\u304c\u9006\u3067\u3042\u308b\u305f\u3081\u3001\u75c7\u72b6\u3082\u4e00\u90e8\u5bfe\u7167\u7684\uff08\u9396\u9aa8\u304c\u592a\u3044\u306a\u3069\uff09\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7ba1\u7406\u306e\u8981\u70b9\uff1a<\/strong> \u4e01\u5be7\u306a\u6b6f\u79d1\u30b1\u30a2\u3001\u6574\u5f62\u5916\u79d1\u7684\u306a\u9aa8\u306e\u30c1\u30a7\u30c3\u30af\u3001\u305d\u3057\u3066\u81ea\u4fe1\u3092\u6301\u3063\u3066\u751f\u6d3b\u3067\u304d\u308b\u3088\u3046\u306a\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e88\u5f8c\uff1a<\/strong> \u9069\u5207\u306a\u7ba1\u7406\u3092\u884c\u3048\u3070\u3001\u5065\u5eb7\u306a\u4eba\u3068\u5909\u308f\u3089\u306a\u3044\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mdmhb-syndrome-guide\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":120591,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122698","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\/122698","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=122698"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122698\/revisions"}],"predecessor-version":[{"id":126314,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122698\/revisions\/126314"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/120591"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122698"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122698"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122698"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}