{"id":122701,"date":"2026-01-14T17:03:57","date_gmt":"2026-01-14T08:03:57","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122701"},"modified":"2026-03-31T16:06:01","modified_gmt":"2026-03-31T07:06:01","slug":"menke-hennekam-syndrome-type2-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/menke-hennekam-syndrome-type2-guide\/","title":{"rendered":"\u30e1\u30f3\u30b1\u30fb\u30d8\u30cd\u30ab\u30e0\u75c7\u5019\u7fa42\u578b\uff08MKHK2\uff09"},"content":{"rendered":"\n<p>\u30e1\u30f3\u30b1\u30fb\u30d8\u30cd\u30ab\u30e0\u75c7\u5019\u7fa42\u578b\u3068\u3044\u3046\u3001\u975e\u5e38\u306b\u7a00\u3067\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\u75c5\u6c17\u3067\u3059\u300d\u3068\u8aac\u660e\u3092\u53d7\u3051\u3001\u3055\u3089\u306b\u300cEP300\u3068\u3044\u3046\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3059\u300d\u3084\u300c\u30eb\u30d3\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30c6\u30a4\u30d3\u75c7\u5019\u7fa4\u3068\u5144\u5f1f\u306e\u3088\u3046\u306a\u95a2\u4fc2\u306b\u3042\u308b\u75c5\u6c17\u3067\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\u306f2018\u5e74\u9803\u306b\u75be\u60a3\u6982\u5ff5\u304c\u78ba\u7acb\u3055\u308c\u305f\u3070\u304b\u308a\u306e\u65b0\u3057\u3044\u75c5\u6c17\u3067\u3042\u308b\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\u75c5\u6c17\u306f\u3001\u30aa\u30e9\u30f3\u30c0\u306e\u533b\u5e2b\u3067\u3042\u308b\u30e1\u30f3\u30b1\u535a\u58eb\u3068\u30d8\u30cd\u30ab\u30e0\u535a\u58eb\u306b\u3088\u3063\u3066\u5831\u544a\u3055\u308c\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u751f\u307e\u308c\u3064\u304d\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u3001\u77e5\u7684\u306a\u767a\u9054\u306e\u3086\u3063\u304f\u308a\u3055\u3084\u3001\u982d\u304c\u5c0f\u3055\u3081\u3067\u3042\u308b\u3053\u3068\u3001\u305d\u3057\u3066\u98df\u4e8b\u306e\u969b\u306e\u98f2\u307f\u8fbc\u307f\u306b\u304f\u3055\u306a\u3069\u3001\u5168\u8eab\u306b\u69d8\u3005\u306a\u7279\u5fb4\u304c\u73fe\u308c\u308b\u4f53\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u539f\u56e0\u3068\u306a\u308bEP300\u907a\u4f1d\u5b50\u306f\u3001\u30eb\u30d3\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30c6\u30a4\u30d3\u75c7\u5019\u7fa42\u578b\u3068\u3044\u3046\u5225\u306e\u75c5\u6c17\u306e\u539f\u56e0\u3068\u3057\u3066\u3082\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u30e1\u30f3\u30b1\u30fb\u30d8\u30cd\u30ab\u30e0\u75c7\u5019\u7fa42\u578b\u306f\u3001\u305d\u306e\u4e2d\u3067\u3082\u7279\u5b9a\u306e\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u3092\u6301\u3064\u30bf\u30a4\u30d7\u3068\u3057\u3066\u533a\u5225\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u304c\u3001\u8fd1\u5e74\u306e\u907a\u4f1d\u5b50\u89e3\u6790\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u8a3a\u65ad\u3055\u308c\u308b\u60a3\u8005\u3055\u3093\u304c\u4e16\u754c\u4e2d\u3067\u5c11\u3057\u305a\u3064\u5897\u3048\u3066\u304d\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u3053\u3068\u306f\u3001\u304a\u5b50\u3055\u3093\u3092\u7406\u89e3\u3057\u3001\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3046\u305f\u3081\u306e\u7b2c\u4e00\u6b69\u3067\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\u53ef\u80fd\u6027\u3092\u9650\u5b9a\u3059\u308b\u3082\u306e\u3067\u306f\u306a\u3044\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306b\u306f\u3001\u305d\u306e\u5b50\u3060\u3051\u306e\u7d20\u6674\u3089\u3057\u3044\u500b\u6027\u3068\u3001\u6210\u9577\u3057\u3066\u3044\u304f\u529b\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3042\u307e\u308a\u6050\u308c\u3059\u304e\u305a\u3001\u4e00\u3064\u3072\u3068\u3064\u77e5\u8b58\u3092\u6574\u7406\u3057\u306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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/menke-hennekam-syndrome-type2-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\" >\u4f55\u304c\u8d77\u304d\u3066\u3044\u308b\u306e\u304b<\/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\/menke-hennekam-syndrome-type2-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-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/menke-hennekam-syndrome-type2-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-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/menke-hennekam-syndrome-type2-guide\/#1_%E8%87%A8%E5%BA%8A%E8%A8%BA%E6%96%AD\" >1. \u81e8\u5e8a\u8a3a\u65ad<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/menke-hennekam-syndrome-type2-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><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\/menke-hennekam-syndrome-type2-guide\/#3_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\" >3. \u753b\u50cf\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-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/menke-hennekam-syndrome-type2-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-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/menke-hennekam-syndrome-type2-guide\/#1_%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%88%E7%99%82%E8%82%B2%EF%BC%89\" >1. \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff08\u7642\u80b2\uff09<\/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\/menke-hennekam-syndrome-type2-guide\/#2_%E6%91%82%E9%A3%9F%E3%83%BB%E6%A0%84%E9%A4%8A%E3%81%AE%E7%AE%A1%E7%90%86\" >2. \u6442\u98df\u30fb\u6804\u990a\u306e\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/menke-hennekam-syndrome-type2-guide\/#3_%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AE%E7%AE%A1%E7%90%86\" >3. \u5408\u4f75\u75c7\u306e\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/menke-hennekam-syndrome-type2-guide\/#4_%E6%95%99%E8%82%B2%E3%81%A8%E7%94%9F%E6%B4%BB%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >4. \u6559\u80b2\u3068\u751f\u6d3b\u306e\u30b5\u30dd\u30fc\u30c8<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/menke-hennekam-syndrome-type2-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\u75c5\u6c17\u304c\u3069\u306e\u3088\u3046\u306a\u4f4d\u7f6e\u3065\u3051\u306b\u3042\u308b\u306e\u304b\u3001\u305d\u3057\u3066\u5168\u4f53\u3068\u3057\u3066\u3069\u306e\u3088\u3046\u306a\u7279\u5fb4\u304c\u3042\u308b\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%E6%B0%97%E3%81%AE%E5%AE%9A%E7%BE%A9\"><\/span><strong>\u75c5\u6c17\u306e\u5b9a\u7fa9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30e1\u30f3\u30b1\u30fb\u30d8\u30cd\u30ab\u30e0\u75c7\u5019\u7fa42\u578b\u306f\u3001EP300\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u5148\u5929\u6027\u306e\u591a\u767a\u5947\u5f62\u75c7\u5019\u7fa4\u304a\u3088\u3073\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u82f1\u8a9e\u3067\u306fMenke-Hennekam Syndrome 2\u3068\u8868\u8a18\u3055\u308c\u3001\u7565\u3057\u3066MKHK2\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u7279\u5fb4\u3068\u3057\u3066\u306f\u3001\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u51fa\u751f\u6642\u304b\u3089\u306e\u5c0f\u982d\u75c7\uff08\u982d\u306e\u30b5\u30a4\u30ba\u304c\u5c0f\u3055\u3044\u3053\u3068\uff09\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306e\u3088\u3046\u306a\u884c\u52d5\u7279\u6027\u3001\u305d\u3057\u3066\u6442\u98df\u969c\u5bb3\uff08\u30df\u30eb\u30af\u3084\u98df\u4e8b\u304c\u3046\u307e\u304f\u6442\u308c\u306a\u3044\u3053\u3068\uff09\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E3%81%AE%E6%AD%B4%E5%8F%B2%E3%81%A8%E5%88%86%E9%A1%9E\"><\/span><strong>\u75be\u60a3\u306e\u6b74\u53f2\u3068\u5206\u985e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u6bd4\u8f03\u7684\u65b0\u3057\u304f\u5b9a\u7fa9\u3055\u308c\u305f\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3082\u3068\u3082\u3068\u3001CREBBP\u3068\u3044\u3046\u907a\u4f1d\u5b50\u3084EP300\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u3068\u3001\u30eb\u30d3\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30c6\u30a4\u30d3\u75c7\u5019\u7fa4\uff08RSTS\uff09\u3068\u3044\u3046\u75c5\u6c17\u306b\u306a\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3057\u305f\u3002RSTS\u306f\u3001\u5e45\u5e83\u306e\u89aa\u6307\u3084\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u3092\u7279\u5fb4\u3068\u3059\u308b\u6709\u540d\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u7814\u7a76\u304c\u9032\u3080\u306b\u3064\u308c\u3066\u3001\u540c\u3058\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u306b\u3082\u304b\u304b\u308f\u3089\u305a\u3001RSTS\u306e\u5178\u578b\u7684\u306a\u7279\u5fb4\uff08\u5e45\u5e83\u306e\u89aa\u6307\u306a\u3069\uff09\u3092\u6301\u305f\u305a\u3001\u304b\u308f\u308a\u306b\u5c0f\u982d\u75c7\u3084\u81ea\u9589\u7684\u306a\u50be\u5411\u304c\u76ee\u7acb\u3064\u60a3\u8005\u3055\u3093\u305f\u3061\u304c\u3044\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u305d\u3053\u3067\u3001\u3053\u308c\u3089\u306e\u7279\u5fb4\u3092\u6301\u3064\u30b0\u30eb\u30fc\u30d7\u3092\u3001\u767a\u898b\u8005\u306e\u540d\u524d\u3092\u3068\u3063\u3066\u30e1\u30f3\u30b1\u30fb\u30d8\u30cd\u30ab\u30e0\u75c7\u5019\u7fa4\u3068\u547c\u3076\u3088\u3046\u306b\u306a\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u3088\u3063\u30662\u3064\u306e\u578b\u306b\u5206\u3051\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30e1\u30f3\u30b1\u30fb\u30d8\u30cd\u30ab\u30e0\u75c7\u5019\u7fa41\u578b\uff08MKHK1\uff09\uff1aCREBBP\u907a\u4f1d\u5b50\u306e\u7279\u5b9a\u306e\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f330\u307e\u305f\u306f31\uff09\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30e1\u30f3\u30b1\u30fb\u30d8\u30cd\u30ab\u30e0\u75c7\u5019\u7fa42\u578b\uff08MKHK2\uff09\uff1aEP300\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4eca\u56de\u89e3\u8aac\u3059\u308b\u306e\u306f\u3001\u3053\u306e\u3046\u3061\u306e2\u578b\uff08EP300\u907a\u4f1d\u5b50\u5909\u7570\uff09\u306b\u3064\u3044\u3066\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E7%94%9F%E9%A0%BB%E5%BA%A6\"><\/span><strong>\u767a\u751f\u983b\u5ea6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u6b63\u78ba\u306a\u60a3\u8005\u6570\u306f\u308f\u304b\u3063\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u4e16\u754c\u3067\u6570\u5341\u4f8b\u304b\u3089\u767e\u4f8b\u7a0b\u5ea6\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u6bb5\u968e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u8a3a\u65ad\u6280\u8853\u306e\u666e\u53ca\u306b\u4f34\u3044\u3001\u3053\u308c\u307e\u3067\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u3068\u3055\u308c\u3066\u3044\u305f\u304a\u5b50\u3055\u3093\u306e\u4e2d\u304b\u3089\u3001\u65b0\u305f\u306b\u8a3a\u65ad\u3055\u308c\u308b\u30b1\u30fc\u30b9\u304c\u5897\u3048\u3066\u3044\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>\u30e1\u30f3\u30b1\u30fb\u30d8\u30cd\u30ab\u30e0\u75c7\u5019\u7fa42\u578b\u306e\u75c7\u72b6\u306f\u3001\u795e\u7d4c\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u3082\u306e\u304b\u3089\u3001\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u307e\u3067\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u306e\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306b\u5171\u901a\u3057\u3066\u898b\u3089\u308c\u308b\u30b5\u30a4\u30f3\u306b\u3064\u3044\u3066\u3001\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=\"1_%E7%A5%9E%E7%B5%8C%E7%99%BA%E9%81%94%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>1. \u795e\u7d4c\u767a\u9054\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3054\u5bb6\u65cf\u304c\u6700\u3082\u6c17\u306b\u304b\u3051\u3089\u308c\u308b\u306e\u304c\u3001\u767a\u9054\u306e\u3086\u3063\u304f\u308a\u3055\u3084\u884c\u52d5\u306e\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u77e5\u7684\u767a\u9054\u306e\u9045\u308c<\/p>\n\n\n\n<p>\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7269\u4e8b\u3092\u7406\u89e3\u3057\u305f\u308a\u3001\u5b66\u7fd2\u3057\u305f\u308a\u3059\u308b\u30da\u30fc\u30b9\u306f\u3086\u3063\u304f\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8449\u306e\u9045\u308c\u3082\u9855\u8457\u3067\u3001\u304a\u8a71\u3057\u3067\u304d\u308b\u5358\u8a9e\u304c\u9650\u3089\u308c\u308b\u5834\u5408\u3084\u3001\u8a00\u8449\u304c\u51fa\u306a\u3044\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u8a00\u8449\u4ee5\u5916\u306e\u65b9\u6cd5\uff08\u8eab\u632f\u308a\u3084\u8868\u60c5\u306a\u3069\uff09\u3067\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306f\u53ef\u80fd\u306a\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\uff08ASD\uff09\u306e\u50be\u5411<\/p>\n\n\n\n<p>\u5bfe\u4eba\u95a2\u4fc2\u306e\u96e3\u3057\u3055\u3084\u3001\u3053\u3060\u308f\u308a\u884c\u52d5\u3068\u3044\u3063\u305f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306e\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u983b\u5ea6\u304c\u9ad8\u3044\u3068\u8a00\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8996\u7dda\u304c\u5408\u3044\u306b\u304f\u3044\u3001\u7279\u5b9a\u306e\u304a\u3082\u3061\u3083\u306b\u5f37\u3044\u57f7\u7740\u3092\u793a\u3059\u3001\u624b\u3092\u3072\u3089\u3072\u3089\u3055\u305b\u308b\u306a\u3069\u306e\u5e38\u540c\u884c\u52d5\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u611f\u899a\u904e\u654f\uff08\u97f3\u3084\u5149\u3001\u89e6\u3089\u308c\u308b\u3053\u3068\u3092\u5acc\u304c\u308b\u306a\u3069\uff09\u3092\u6301\u3064\u304a\u5b50\u3055\u3093\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u904b\u52d5\u767a\u9054\u306e\u9045\u308c<\/p>\n\n\n\n<p>\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u9045\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7b4b\u8089\u306e\u5f35\u308a\u304c\u5f31\u3044\u4f4e\u7dca\u5f35\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u3053\u308c\u304c\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306b\u5f71\u97ff\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%BA%AB%E4%BD%93%E7%9A%84%E3%81%AA%E7%89%B9%E5%BE%B4\"><\/span><strong>2. \u8eab\u4f53\u7684\u306a\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u304a\u9854\u7acb\u3061\u3084\u982d\u306e\u5f62\u306b\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u982d\u75c7<\/p>\n\n\n\n<p>\u751f\u307e\u308c\u305f\u6642\u3001\u3042\u308b\u3044\u306f\u751f\u5f8c\u9593\u3082\u306a\u304f\u304b\u3089\u3001\u982d\u56f2\uff08\u982d\u306e\u5468\u308a\u306e\u9577\u3055\uff09\u304c\u5e73\u5747\u3088\u308a\u3082\u5c0f\u3055\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u8133\u306e\u6210\u9577\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u3053\u3068\u3092\u53cd\u6620\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u5fc5\u305a\u3057\u3082\u5168\u3066\u306e\u6a5f\u80fd\u304c\u4f4e\u3044\u3053\u3068\u3092\u610f\u5473\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u304a\u9854\u7acb\u3061\u306e\u7279\u5fb4<\/p>\n\n\n\n<p>\u7279\u5fb4\u7684\u3068\u8a00\u3048\u308b\u307b\u3069\u306f\u3063\u304d\u308a\u3057\u305f\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u50be\u5411\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7709\u6bdb\u304c\u30a2\u30fc\u30c1\u72b6\u3067\u9ad8\u3044\u4f4d\u7f6e\u306b\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u76ee\u304c\u5c11\u3057\u96e2\u308c\u3066\u3044\u308b\u3001\u3042\u308b\u3044\u306f\u76ee\u304c\u5c0f\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u9f3b\u304c\u77ed\u304f\u3001\u9f3b\u5148\u304c\u4e0a\u3092\u5411\u3044\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\u306e\u6e9d\uff09\u304c\u77ed\u3044\u3002<\/p>\n\n\n\n<p>\u4e0a\u5507\u304c\u8584\u3044\u3002<\/p>\n\n\n\n<p>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u3042\u308b\u3044\u306f\u5f62\u304c\u5909\u308f\u3063\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u304a\u9854\u7acb\u3061\u306f\u3001\u30eb\u30d3\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30c6\u30a4\u30d3\u75c7\u5019\u7fa4\u3068\u4e00\u90e8\u5171\u901a\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u3088\u308a\u30de\u30a4\u30eb\u30c9\u3067\u3042\u308b\u304b\u3001\u5c11\u3057\u7570\u306a\u308b\u5370\u8c61\u3092\u4e0e\u3048\u308b\u3053\u3068\u304c\u591a\u3044\u3067\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\u4f4e\u8eab\u9577\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E6%91%82%E9%A3%9F%E3%83%BB%E6%B6%88%E5%8C%96%E5%99%A8%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span><strong>3. \u6442\u98df\u30fb\u6d88\u5316\u5668\u306e\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u751f\u6d3b\u306e\u4e2d\u3067\u30b1\u30a2\u304c\u5fc5\u8981\u306b\u306a\u308b\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6442\u98df\u969c\u5bb3\uff08\u54fa\u4e73\u56f0\u96e3\uff09<\/p>\n\n\n\n<p>\u4e73\u5150\u671f\u306b\u3001\u30df\u30eb\u30af\u3092\u5438\u3046\u529b\u304c\u5f31\u304b\u3063\u305f\u308a\u3001\u98f2\u307f\u8fbc\u3080\u306e\u304c\u82e6\u624b\u3060\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4f53\u91cd\u304c\u5897\u3048\u306b\u304f\u304f\u3001\u7d4c\u7ba1\u6804\u990a\uff08\u9f3b\u304b\u3089\u30c1\u30e5\u30fc\u30d6\u3092\u901a\u3057\u3066\u30df\u30eb\u30af\u3092\u5165\u308c\u308b\u65b9\u6cd5\uff09\u306a\u3069\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6210\u9577\u3057\u3066\u3082\u3001\u56fa\u5f62\u7269\u3092\u565b\u3093\u3067\u98f2\u307f\u8fbc\u3080\u306e\u304c\u82e6\u624b\u306a\u5834\u5408\u304c\u3042\u308a\u3001\u98df\u4e8b\u306e\u5f62\u614b\u306b\u5de5\u592b\u304c\u5fc5\u8981\u306a\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u80c3\u98df\u9053\u9006\u6d41\u75c7<\/p>\n\n\n\n<p>\u98f2\u3093\u3060\u30df\u30eb\u30af\u3084\u98df\u3079\u305f\u3082\u306e\u304c\u80c3\u304b\u3089\u98df\u9053\u3078\u9006\u6d41\u3057\u3084\u3059\u304f\u3001\u983b\u7e41\u306b\u5410\u3044\u3066\u3057\u307e\u3063\u305f\u308a\u3001\u80f8\u713c\u3051\u3067\u4e0d\u6a5f\u5acc\u306b\u306a\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E6%89%8B%E8%B6%B3%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%88RSTS%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84%EF%BC%89\"><\/span><strong>4. \u624b\u8db3\u306e\u7279\u5fb4\uff08RSTS\u3068\u306e\u9055\u3044\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30eb\u30d3\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30c6\u30a4\u30d3\u75c7\u5019\u7fa4\uff08RSTS\uff09\u3067\u306f\u3001\u89aa\u6307\u3084\u8db3\u306e\u89aa\u6307\u304c\u975e\u5e38\u306b\u5e45\u5e83\u304f\u3001\u5e73\u3079\u3063\u305f\u3044\u5f62\u3092\u3057\u3066\u3044\u308b\u306e\u304c\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u304c\u3001\u30e1\u30f3\u30b1\u30fb\u30d8\u30cd\u30ab\u30e0\u75c7\u5019\u7fa4\u3067\u306f\u3053\u306e\u7279\u5fb4\u304c\u898b\u3089\u308c\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u975e\u5e38\u306b\u8efd\u5ea6\u3067\u3042\u308b\u3053\u3068\u304c\u8a3a\u65ad\u306e\u5206\u304b\u308c\u76ee\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6307\u304c\u5c11\u3057\u77ed\u304b\u3063\u305f\u308a\u3001\u5c0f\u6307\u304c\u5185\u5074\u306b\u66f2\u304c\u3063\u3066\u3044\u305f\u308a\u3059\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304c\u3001RSTS\u307b\u3069\u7279\u5fb4\u7684\u306a\u6307\u306e\u5f62\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span><strong>5. \u305d\u306e\u4ed6\u306e\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8996\u899a\u30fb\u8074\u899a<\/p>\n\n\n\n<p>\u659c\u8996\u3084\u5c48\u6298\u7570\u5e38\uff08\u9060\u8996\u30fb\u8fd1\u8996\uff09\u3001\u3042\u308b\u3044\u306f\u96e3\u8074\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5b9a\u671f\u7684\u306a\u691c\u8a3a\u3067\u30c1\u30a7\u30c3\u30af\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u767a\u4f5c<\/p>\n\n\n\n<p>\u60a3\u8005\u3055\u3093\u306e\u4e00\u90e8\u306b\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u306f\u69d8\u3005\u3067\u3059\u304c\u3001\u304a\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3067\u304d\u308b\u5834\u5408\u3082\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8133\u6ce2\u691c\u67fb\u3067\u78ba\u8a8d\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7e70\u308a\u8fd4\u3059\u611f\u67d3\u75c7<\/p>\n\n\n\n<p>\u98a8\u90aa\u3092\u3072\u304d\u3084\u3059\u304b\u3063\u305f\u308a\u3001\u4e2d\u8033\u708e\u3092\u7e70\u308a\u8fd4\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u514d\u75ab\u306e\u50cd\u304d\u306b\u8efd\u5ea6\u306e\u554f\u984c\u304c\u3042\u308b\u53ef\u80fd\u6027\u3082\u793a\u5506\u3055\u308c\u3066\u3044\u307e\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\n\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\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u306b\u306a\u3063\u305f\u308a\u3001\u982d\u304c\u5c0f\u3055\u304f\u306a\u3063\u305f\u308a\u3059\u308b\u306e\u3067\u3057\u3087\u3046\u304b\u3002\u305d\u306e\u539f\u56e0\u306f\u3001\u7d30\u80de\u306e\u4e2d\u3067\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u8abf\u7bc0\u3059\u308b\u91cd\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5909\u5316\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"EP300%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>EP300\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30e1\u30f3\u30b1\u30fb\u30d8\u30cd\u30ab\u30e0\u75c7\u5019\u7fa42\u578b\u306e\u539f\u56e0\u306f\u3001\u7b2c22\u756a\u67d3\u8272\u4f53\u306b\u3042\u308bEP300\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u300cp300\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u8a2d\u8a08\u56f3\u3067\u3059\u3002<\/p>\n\n\n\n<p>p300\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u7d30\u80de\u306e\u4e2d\u3067\u300c\u30d2\u30b9\u30c8\u30f3\u30a2\u30bb\u30c1\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\u300d\u3068\u3044\u3046\u9175\u7d20\u3068\u3057\u3066\u50cd\u3044\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5c11\u3057\u96e3\u3057\u3044\u8a00\u8449\u3067\u3059\u304c\u3001\u3053\u308c\u306f\u300c\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u5165\u308c\u308b\u305f\u3081\u306e\u9375\u300d\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u305f\u3061\u306e\u4f53\u306b\u306f2\u4e07\u500b\u4ee5\u4e0a\u306e\u907a\u4f1d\u5b50\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u305d\u308c\u3089\u306f\u666e\u6bb5\u3001\u30d2\u30b9\u30c8\u30f3\u3068\u3044\u3046\u7cf8\u5dfb\u304d\u306e\u3088\u3046\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u306b\u5dfb\u304d\u4ed8\u3044\u3066\u30b3\u30f3\u30d1\u30af\u30c8\u306b\u53ce\u7d0d\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>p300\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u3053\u306e\u30d2\u30b9\u30c8\u30f3\u306b\u76ee\u5370\uff08\u30a2\u30bb\u30c1\u30eb\u57fa\uff09\u3092\u3064\u3051\u308b\u3053\u3068\u3067\u3001\u5dfb\u304d\u4ed8\u3044\u305fDNA\u3092\u7de9\u3081\u3001\u5fc5\u8981\u306a\u907a\u4f1d\u5b50\u3092\u8aad\u307f\u53d6\u308c\u308b\u72b6\u614b\uff08\u30b9\u30a4\u30c3\u30c1ON\u306e\u72b6\u614b\uff09\u306b\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3092\u30af\u30ed\u30de\u30c1\u30f3\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\u3068\u547c\u3073\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\"><\/span><strong>\u4f55\u304c\u8d77\u304d\u3066\u3044\u308b\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>EP300\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u8d77\u304d\u308b\u3068\u3001\u3053\u306e\u300c\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u5165\u308c\u308b\u9375\u300d\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>p300\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u8133\u306e\u767a\u9054\u3001\u4f53\u306e\u6210\u9577\u3001\u69d8\u3005\u306a\u81d3\u5668\u306e\u5f62\u6210\u306a\u3069\u3001\u975e\u5e38\u306b\u591a\u304f\u306e\u907a\u4f1d\u5b50\u306e\u5236\u5fa1\u306b\u95a2\u308f\u3063\u3066\u3044\u308b\u305f\u3081\u3001\u3053\u3053\u304c\u304a\u304b\u3057\u304f\u306a\u308b\u3068\u5168\u8eab\u306b\u69d8\u3005\u306a\u5f71\u97ff\u304c\u51fa\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u30e1\u30f3\u30b1\u30fb\u30d8\u30cd\u30ab\u30e0\u75c7\u5019\u7fa42\u578b\u3067\u306f\u3001EP300\u907a\u4f1d\u5b50\u306e\u7279\u5b9a\u306e\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f330\u307e\u305f\u306f31\uff09\u306b\u5909\u7570\u304c\u3042\u308b\u5834\u5408\u306b\u3053\u306e\u75c5\u540d\u304c\u3064\u304f\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u305d\u308c\u4ee5\u5916\u306e\u5834\u6240\u306e\u5909\u7570\u3067\u3082\u4f3c\u305f\u75c7\u72b6\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u304c\u5b8c\u5168\u306b\u5931\u308f\u308c\u308b\u306e\u3067\u306f\u306a\u304f\u3001\u7279\u5b9a\u306e\u6a5f\u80fd\u304c\u5909\u5316\u3059\u308b\u3053\u3068\u3067\u3001\u30eb\u30d3\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30c6\u30a4\u30d3\u75c7\u5019\u7fa4\u3068\u306f\u5c11\u3057\u9055\u3063\u305f\u75c7\u72b6\uff08\u5c0f\u982d\u75c7\u3084\u81ea\u9589\u50be\u5411\u306a\u3069\uff09\u304c\u73fe\u308c\u308b\u306e\u3067\u306f\u306a\u3044\u304b\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%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\u3001\u4ee5\u524d\u306f\u512a\u6027\u907a\u4f1d\u3068\u547c\u3070\u308c\u3066\u3044\u305f\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\u306eEP300\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308c\u3070\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u30e1\u30f3\u30b1\u30fb\u30d8\u30cd\u30ab\u30e0\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u3055\u3093\u306e\u307b\u3068\u3093\u3069\u306f\u3001\u3054\u4e21\u89aa\u304b\u3089\u907a\u4f1d\u3057\u305f\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/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\u304c\u5727\u5012\u7684\u306b\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u3001\u53d7\u7cbe\u5375\u304c\u3067\u304d\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u3067\u304d\u308b\u904e\u7a0b\u3067\u5076\u7136\u306b\u8d77\u304d\u305f\u30b3\u30d4\u30fc\u30df\u30b9\u306e\u3088\u3046\u306a\u3082\u306e\u3067\u3042\u308a\u3001\u8ab0\u306e\u305b\u3044\u3067\u3082\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u7fd2\u6163\u3084\u30b9\u30c8\u30ec\u30b9\u3001\u9ad8\u9f62\u51fa\u7523\u306a\u3069\u304c\u76f4\u63a5\u7684\u306a\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u305f\u304c\u3063\u3066\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u304c\u540c\u3058\u75c5\u6c17\u306b\u306a\u308b\u78ba\u7387\u306f\u3001\u4e00\u822c\u306e\u30ab\u30c3\u30d7\u30eb\u3068\u307b\u3068\u3093\u3069\u5909\u308f\u308a\u307e\u305b\u3093\uff08\u305f\u3060\u3057\u3001\u7a00\u306b\u6027\u817a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u3068\u3044\u3046\u73fe\u8c61\u304c\u3042\u308b\u305f\u3081\u3001\u5fc3\u914d\u306a\u5834\u5408\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306e\u76f8\u8ac7\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\uff09\u3002<\/p>\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\/11\/32362520_s-1.webp\" alt=\"\u533b\u8005\" class=\"wp-image-120157\"\/><\/figure><\/div>\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\u3068\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3055\u308c\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\"><\/span><strong>1. \u81e8\u5e8a\u8a3a\u65ad<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u533b\u5e2b\u306f\u8a3a\u5bdf\u3067\u4ee5\u4e0b\u306e\u70b9\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u3084\u81ea\u9589\u7684\u306a\u50be\u5411\u304c\u3042\u308b\u304b\u3002<\/li>\n\n\n\n<li>\u5c0f\u982d\u75c7\u304c\u3042\u308b\u304b\u3002<\/li>\n\n\n\n<li>\u6442\u98df\u306e\u554f\u984c\u304c\u3042\u308b\u304b\u3002<\/li>\n\n\n\n<li>\u30eb\u30d3\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30c6\u30a4\u30d3\u75c7\u5019\u7fa4\u306b\u4f3c\u3066\u3044\u308b\u304c\u3001\u6307\u306e\u7279\u5fb4\u304c\u306f\u3063\u304d\u308a\u3057\u306a\u3044\u304b\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u7279\u5fb4\u304c\u63c3\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u30e1\u30f3\u30b1\u30fb\u30d8\u30cd\u30ab\u30e0\u75c7\u5019\u7fa4\u304c\u7591\u308f\u308c\u307e\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\u91cd\u8981\u306a\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8840\u6db2\u3092\u63a1\u53d6\u3057\u3001DNA\u3092\u89e3\u6790\u3057\u3066EP300\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u304b\u3092\u8abf\u3079\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6700\u8fd1\u3067\u306f\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3068\u3044\u3063\u3066\u3001\u3059\u3079\u3066\u306e\u907a\u4f1d\u5b50\u3092\u7db2\u7f85\u7684\u306b\u8abf\u3079\u308b\u691c\u67fb\u3067\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306b\u3088\u308a\u3001CREBBP\u5909\u7570\uff08MKHK1\u3084RSTS1\uff09\u306a\u306e\u304b\u3001EP300\u5909\u7570\uff08MKHK2\u3084RSTS2\uff09\u306a\u306e\u304b\u3092\u306f\u3063\u304d\u308a\u3055\u305b\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\"><\/span><strong>3. \u753b\u50cf\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8133\u306eMRI\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8133\u306e\u69cb\u9020\u306b\u5927\u304d\u306a\u5947\u5f62\u304c\u3042\u308b\u3053\u3068\u306f\u5c11\u306a\u3044\u3067\u3059\u304c\u3001\u8133\u6881\u304c\u8584\u3044\u3001\u8133\u5168\u4f53\u306e\u30dc\u30ea\u30e5\u30fc\u30e0\u304c\u5c0f\u3055\u3044\u3068\u3044\u3063\u305f\u6240\u898b\u304c\u898b\u3089\u308c\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\u3092\u4fee\u5fa9\u3057\u3066\u75c5\u6c17\u3092\u6839\u672c\u304b\u3089\u6cbb\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\u7642\u80b2\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u6301\u3063\u3066\u3044\u308b\u529b\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3057\u3001\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u5c0f\u5150\u79d1\u3001\u5c0f\u5150\u795e\u7d4c\u79d1\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u79d1\u3001\u8033\u9f3b\u79d1\u3001\u773c\u79d1\u306a\u3069\u304c\u30c1\u30fc\u30e0\u3092\u7d44\u3093\u3067\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%88%E7%99%82%E8%82%B2%EF%BC%89\"><\/span><strong>1. \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff08\u7642\u80b2\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u304a\u5b50\u3055\u3093\u306b\u3068\u3063\u3066\u3001\u6700\u3082\u91cd\u8981\u3067\u4e2d\u5fc3\u3068\u306a\u308b\u30b1\u30a2\u3067\u3059\u3002\u65e9\u671f\u304b\u3089\u306e\u958b\u59cb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09<\/p>\n\n\n\n<p>\u4f53\u306e\u30d0\u30e9\u30f3\u30b9\u611f\u899a\u3092\u990a\u3044\u3001\u304a\u5ea7\u308a\u3084\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u6a5f\u80fd\u3092\u9ad8\u3081\u308b\u8a13\u7df4\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4f4e\u7dca\u5f35\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u59ff\u52e2\u3092\u4fdd\u3064\u305f\u3081\u306e\u7df4\u7fd2\u3084\u3001\u7b4b\u8089\u306e\u767a\u9054\u3092\u4fc3\u3059\u904a\u3073\u3092\u53d6\u308a\u5165\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09<\/p>\n\n\n\n<p>\u624b\u5148\u306e\u4f7f\u3044\u65b9\u3084\u3001\u904a\u3073\u3092\u901a\u3058\u305f\u767a\u9054\u652f\u63f4\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u98df\u4e8b\u3084\u7740\u66ff\u3048\u306a\u3069\u306e\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u306e\u81ea\u7acb\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u611f\u899a\u904e\u654f\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u611f\u899a\u7d71\u5408\u7642\u6cd5\u306a\u3069\u3092\u901a\u3058\u3066\u3001\u611f\u899a\u306e\u53d7\u3051\u53d6\u308a\u65b9\u3092\u8abf\u6574\u3059\u308b\u7df4\u7fd2\u3092\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09<\/p>\n\n\n\n<p>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u306e\u5411\u4e0a\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8449\u304c\u51fa\u306b\u304f\u3044\u5834\u5408\u3067\u3082\u3001\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u3001\u7d75\u30ab\u30fc\u30c9\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u306a\u3069\u3001\u305d\u306e\u5b50\u306b\u5408\u3063\u305f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\uff08AAC\uff09\u3092\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u98df\u4e8b\u306e\u98f2\u307f\u8fbc\u307f\u306b\u554f\u984c\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u6442\u98df\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002\u5b89\u5168\u306b\u697d\u3057\u304f\u98df\u3079\u308b\u305f\u3081\u306e\u98df\u4e8b\u5f62\u614b\u3084\u4ecb\u52a9\u65b9\u6cd5\u3092\u30a2\u30c9\u30d0\u30a4\u30b9\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E6%91%82%E9%A3%9F%E3%83%BB%E6%A0%84%E9%A4%8A%E3%81%AE%E7%AE%A1%E7%90%86\"><\/span><strong>2. \u6442\u98df\u30fb\u6804\u990a\u306e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4f53\u91cd\u304c\u5897\u3048\u306b\u304f\u3044\u5834\u5408\u3084\u3001\u98f2\u307f\u8fbc\u307f\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\u3001\u6804\u990a\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u9ad8\u30ab\u30ed\u30ea\u30fc\u306e\u30df\u30eb\u30af\u3084\u6804\u990a\u88dc\u52a9\u98df\u54c1\u3092\u5229\u7528\u3057\u305f\u308a\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u7d4c\u7ba1\u6804\u990a\u3092\u884c\u3063\u305f\u308a\u3057\u3066\u3001\u5341\u5206\u306a\u6804\u990a\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u80c3\u98df\u9053\u9006\u6d41\u75c7\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u6388\u4e73\u5f8c\u306e\u59ff\u52e2\u3092\u5de5\u592b\u3057\u305f\u308a\u3001\u80c3\u9178\u3092\u6291\u3048\u308b\u304a\u85ac\u3092\u4f7f\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AE%E7%AE%A1%E7%90%86\"><\/span><strong>3. \u5408\u4f75\u75c7\u306e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3066\u3093\u304b\u3093<\/p>\n\n\n\n<p>\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u3092\u4f7f\u7528\u3057\u3066\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u773c\u79d1\u30fb\u8033\u9f3b\u79d1<\/p>\n\n\n\n<p>\u5b9a\u671f\u7684\u306a\u691c\u8a3a\u3092\u884c\u3044\u3001\u659c\u8996\u3084\u96e3\u8074\u304c\u3042\u308c\u3070\u65e9\u671f\u306b\u5bfe\u5fdc\u3057\u307e\u3059\u3002\u773c\u93e1\u3084\u88dc\u8074\u5668\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u611f\u67d3\u75c7\u5bfe\u7b56<\/p>\n\n\n\n<p>\u98a8\u90aa\u3092\u3072\u304d\u3084\u3059\u3044\u5834\u5408\u306f\u3001\u624b\u6d17\u3044\u3084\u4eba\u6df7\u307f\u3092\u907f\u3051\u308b\u306a\u3069\u306e\u4e88\u9632\u7b56\u3092\u5fc3\u304c\u3051\u3001\u4f53\u8abf\u304c\u60aa\u3044\u6642\u306f\u65e9\u3081\u306b\u53d7\u8a3a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E6%95%99%E8%82%B2%E3%81%A8%E7%94%9F%E6%B4%BB%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span><strong>4. \u6559\u80b2\u3068\u751f\u6d3b\u306e\u30b5\u30dd\u30fc\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5c31\u5b66\u6642\u306b\u306f\u3001\u7279\u5225\u652f\u63f4\u5b66\u6821\u3084\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u3001\u304a\u5b50\u3055\u3093\u306e\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u6559\u80b2\u74b0\u5883\u3092\u9078\u3076\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u500b\u5225\u306e\u6307\u5c0e\u8a08\u753b\u3092\u4f5c\u6210\u3057\u3001\u4e00\u4eba\u3072\u3068\u308a\u306e\u30da\u30fc\u30b9\u306b\u5408\u308f\u305b\u305f\u5b66\u7fd2\u3084\u751f\u6d3b\u306e\u81ea\u7acb\u306b\u5411\u3051\u305f\u652f\u63f4\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306e\u7279\u6027\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u898b\u901a\u3057\u3092\u6301\u305f\u305b\u308b\u305f\u3081\u306e\u8996\u899a\u7684\u306a\u652f\u63f4\u3084\u3001\u843d\u3061\u7740\u3051\u308b\u74b0\u5883\u3065\u304f\u308a\u304c\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u653e\u8ab2\u5f8c\u7b49\u30c7\u30a4\u30b5\u30fc\u30d3\u30b9\u306a\u3069\u306e\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u3092\u5229\u7528\u3059\u308b\u3053\u3068\u3067\u3001\u793e\u4f1a\u6027\u3092\u80b2\u3080\u6a5f\u4f1a\u3092\u5897\u3084\u3059\u3053\u3068\u304c\u3067\u304d\u307e\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>\u30e1\u30f3\u30b1\u30fb\u30d8\u30cd\u30ab\u30e0\u75c7\u5019\u7fa42\u578b\uff08MKHK2\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> EP300\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u5165\u308c\u308b\u50cd\u304d\u304c\u5909\u5316\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e3b\u306a\u7279\u5fb4\uff1a<\/strong> \u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u3001\u5c0f\u982d\u75c7\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306e\u50be\u5411\u3001\u6442\u98df\u969c\u5bb3\u306a\u3069\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>RSTS\u3068\u306e\u9055\u3044\uff1a<\/strong> \u30eb\u30d3\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30c6\u30a4\u30d3\u75c7\u5019\u7fa4\u3068\u4f3c\u3066\u3044\u307e\u3059\u304c\u3001\u5e45\u5e83\u306e\u89aa\u6307\u306a\u3069\u306e\u7279\u5fb4\u304c\u76ee\u7acb\u305f\u305a\u3001\u81ea\u9589\u7684\u306a\u50be\u5411\u304c\u5f37\u3044\u3053\u3068\u304c\u8a3a\u65ad\u306e\u30dd\u30a4\u30f3\u30c8\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u539f\u56e0\uff1a<\/strong> 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