{"id":121604,"date":"2026-01-07T13:52:15","date_gmt":"2026-01-07T04:52:15","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121604"},"modified":"2026-01-07T13:52:17","modified_gmt":"2026-01-07T04:52:17","slug":"5q14-3-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/","title":{"rendered":"5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\uff08MEF2C\u30cf\u30d7\u30ed\u4e0d\u5168\u75c7\u5019\u7fa4\uff09"},"content":{"rendered":"\n<p>\u304a\u5b50\u69d8\u304c\u300c5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u969b\u3001\u3054\u5bb6\u65cf\u306f\u8a00\u8449\u3067\u306f\u8a00\u3044\u8868\u305b\u306a\u3044\u307b\u3069\u306e\u4e0d\u5b89\u3084\u5b64\u72ec\u611f\u3092\u611f\u3058\u3089\u308c\u308b\u3053\u3068\u3068\u601d\u3044\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u975e\u5e38\u306b\u7a00\u3067\u3042\u308a\u3001\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u4e0a\u3067\u691c\u7d22\u3057\u3066\u3082\u3001\u65ad\u7247\u7684\u306a\u5c02\u9580\u7528\u8a9e\u3084\u82f1\u8a9e\u306e\u8ad6\u6587\u3070\u304b\u308a\u304c\u76ee\u306b\u3064\u304d\u3001\u5177\u4f53\u7684\u306a\u751f\u6d3b\u306e\u30a4\u30e1\u30fc\u30b8\u304c\u6e67\u304d\u306b\u304f\u3044\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306f\u3001\u8fd1\u5e74\u306e\u907a\u4f1d\u5b50\u89e3\u6790\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u3063\u3066\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u304d\u305f\u6bd4\u8f03\u7684\u65b0\u3057\u3044\u75be\u60a3\u6982\u5ff5\u3067\u3059\u3002\u304b\u3064\u3066\u306f\u300c\u539f\u56e0\u4e0d\u660e\u306e\u91cd\u5ea6\u767a\u9054\u9045\u6ede\u300d\u3084\u300c\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u69d8\uff08\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u306b\u4f3c\u305f\u75c7\u72b6\uff09\u300d\u3068\u3055\u308c\u3066\u3044\u305f\u30b1\u30fc\u30b9\u306e\u4e2d\u306b\u3001\u3053\u306e5q14.3\u9818\u57df\u306e\u6b20\u5931\u304c\u539f\u56e0\u3067\u3042\u308b\u65b9\u304c\u591a\u304f\u542b\u307e\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u672c\u8a18\u4e8b\u3067\u306f\u3001\u3053\u306e\u75be\u60a3\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u304b\u3089\u3001\u73fe\u308c\u3084\u3059\u3044\u75c7\u72b6\u3001\u6700\u65b0\u306e\u691c\u67fb\u6cd5\u3001\u305d\u3057\u3066\u65e5\u672c\u3067\u306e\u751f\u6d3b\u3092\u652f\u3048\u308b\u305f\u3081\u306e\u5177\u4f53\u7684\u306a\u30a2\u30d7\u30ed\u30fc\u30c1\u307e\u3067\u3001\u8a73\u7d30\u306a\u89e3\u8aac\u3092\u901a\u3058\u3066\u3001\u7686\u69d8\u306e\u6b69\u307f\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_82_2 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E3%80%8C%E4%BD%8F%E6%89%80%E3%80%8D%E3%82%92%E7%90%86%E8%A7%A3%E3%81%99%E3%82%8B\" >\u67d3\u8272\u4f53\u306e\u300c\u4f4f\u6240\u300d\u3092\u7406\u89e3\u3059\u308b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#MEF2C%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\" >MEF2C\u907a\u4f1d\u5b50\u306e\u91cd\u8981\u6027<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%9A%E7%A5%9E%E7%B5%8C%E7%99%BA%E9%81%94%E3%81%A8%E8%BA%AB%E4%BD%93%E7%9A%84%E7%89%B9%E5%BE%B4\" >2. \u4e3b\u306a\u75c7\u72b6\uff1a\u795e\u7d4c\u767a\u9054\u3068\u8eab\u4f53\u7684\u7279\u5fb4<\/a><ul 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\u3066\u3093\u304b\u3093\u3068\u8133\u6ce2\u306e\u7570\u5e38<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#%E2%91%A3_%E7%AD%8B%E7%B7%8A%E5%BC%B5%E4%BD%8E%E4%B8%8B%EF%BC%88%E4%BD%8E%E7%B7%8A%E5%BC%B5%EF%BC%89\" >\u2463 \u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#%E2%91%A4_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E8%A1%8C%E5%8B%95\" >\u2464 \u7279\u5fb4\u7684\u306a\u884c\u52d5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#%E2%91%A5_%E8%BA%AB%E4%BD%93%E7%9A%84%E3%83%BB%E9%A1%94%E7%AB%8B%E3%81%A1%E3%81%AE%E7%89%B9%E5%BE%B4\" >\u2465 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#%E2%91%A1_%E6%AC%A1%E4%B8%96%E4%BB%A3%E3%82%B7%E3%83%BC%E3%82%B1%E3%83%B3%E3%82%B7%E3%83%B3%E3%82%B0%EF%BC%88NGS%EF%BC%89_%E5%85%A8%E3%82%A8%E3%82%AD%E3%82%BD%E3%83%BC%E3%83%A0%E8%A7%A3%E6%9E%90\" >\u2461 \u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09 \/ \u5168\u30a8\u30ad\u30bd\u30fc\u30e0\u89e3\u6790<\/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\/5q14-3-deletion-syndrome\/#%E2%91%A2_%E8%84%B3%E6%B3%A2%E6%A4%9C%E6%9F%BB%E3%81%A8MRI\" >\u2462 \u8133\u6ce2\u691c\u67fb\u3068MRI<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#5_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E5%A4%9A%E8%81%B7%E7%A8%AE%E3%83%81%E3%83%BC%E3%83%A0%E3%81%AB%E3%82%88%E3%82%8B%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >5. \u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u591a\u8077\u7a2e\u30c1\u30fc\u30e0\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#%E5%8C%BB%E7%99%82%E9%9D%A2%E3%81%A7%E3%81%AE%E7%AE%A1%E7%90%86\" >\u533b\u7642\u9762\u3067\u306e\u7ba1\u7406<\/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\/5q14-3-deletion-syndrome\/#%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\" >\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\/5q14-3-deletion-syndrome\/#%E6%97%A5%E6%9C%AC%E3%81%AB%E3%81%8A%E3%81%91%E3%82%8B%E6%94%AF%E6%8F%B4%E5%88%B6%E5%BA%A6\" >\u65e5\u672c\u306b\u304a\u3051\u308b\u652f\u63f4\u5236\u5ea6<\/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\/5q14-3-deletion-syndrome\/#6_%E3%81%BE%E3%81%A8%E3%82%81\" >6. \u307e\u3068\u3081<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#7_%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\" >7. \u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_5q143%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%EF%BC%9A%E6%A6%82%E8%A6%81\"><\/span><strong>1. 5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\uff1a\u6982\u8981<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E3%80%8C%E4%BD%8F%E6%89%80%E3%80%8D%E3%82%92%E7%90%86%E8%A7%A3%E3%81%99%E3%82%8B\"><\/span><strong>\u67d3\u8272\u4f53\u306e\u300c\u4f4f\u6240\u300d\u3092\u7406\u89e3\u3059\u308b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u79c1\u305f\u3061\u306e\u7d30\u80de\u306e\u4e2d\u306b\u306f\u3001\u751f\u547d\u306e\u8a2d\u8a08\u56f3\u3067\u3042\u308b\u67d3\u8272\u4f53\u304c46\u672c\uff0823\u5bfe\uff09\u53ce\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u30025q14.3\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u3053\u306e\u3046\u30615\u756a\u76ee\u306e\u67d3\u8272\u4f53\u306b\u8d77\u3053\u308b\u5fae\u7d30\u306a\u5909\u5316\u3092\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>5\u756a\u67d3\u8272\u4f53<\/strong>: \u30d2\u30c8\u306e\u67d3\u8272\u4f53\u306e\u4e2d\u3067\u5927\u304d\u3044\u90e8\u985e\u306b\u5165\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>q\uff08\u9577\u8155\uff09<\/strong>: \u67d3\u8272\u4f53\u306f\u4e2d\u5fc3\uff08\u4e2d\u5fc3\u7bc0\uff09\u3092\u5883\u306b\u3001\u77ed\u3044\u65b9\u306e\u8155\u3092\u300cp\uff08\u77ed\u8155\uff09\u300d\u3001\u9577\u3044\u65b9\u306e\u8155\u3092\u300cq\uff08\u9577\u8155\uff09\u300d\u3068\u547c\u3073\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>14.3<\/strong>: \u3053\u308c\u306f\u67d3\u8272\u4f53\u4e0a\u306e\u300c\u4f4f\u6240\u300d\u3067\u3059\u3002\u9577\u8155\u306e\u7279\u5b9a\u306e\u533a\u753b\uff0814\u756a\u9818\u57df\u306e\u30b5\u30d6\u30bb\u30af\u30b7\u30e7\u30f33\uff09\u3092\u6307\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931<\/strong>: \u672c\u6765\u3042\u308b\u3079\u304d\u3053\u306e\u9818\u57df\u306e\u907a\u4f1d\u60c5\u5831\u304c\u3001\u3054\u304f\u308f\u305a\u304b\u306b\u5931\u308f\u308c\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"MEF2C%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\"><\/span><strong>MEF2C\u907a\u4f1d\u5b50\u306e\u91cd\u8981\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e5q14.3\u9818\u57df\u306e\u4e2d\u3067\u3001\u6700\u3082\u91cd\u8981\u8996\u3055\u308c\u3066\u3044\u308b\u306e\u304c<strong>MEF2C\u907a\u4f1d\u5b50<\/strong>\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u304c\u6b63\u3057\u304f\u914d\u7f6e\u3055\u308c\u3001\u6b63\u5e38\u306b\u6a5f\u80fd\u3059\u308b\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306e\u307b\u3068\u3093\u3069\u306f\u3001\u3053\u306eMEF2C\u907a\u4f1d\u5b50\u304c1\u3064\u6b20\u3051\u3066\u3044\u308b\uff08\u901a\u5e38\u306f\u7236\u7531\u6765\u3068\u6bcd\u7531\u6765\u306e2\u3064\u304c\u3042\u308b\u3079\u304d\u3068\u3053\u308d\u304c1\u3064\u3057\u304b\u306a\u3044\uff09\u3053\u3068\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u533b\u5b66\u7684\u306b\u306f\u300cMEF2C\u30cf\u30d7\u30ed\u4e0d\u5168\u75c7\u5019\u7fa4\u300d\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%9A%E7%A5%9E%E7%B5%8C%E7%99%BA%E9%81%94%E3%81%A8%E8%BA%AB%E4%BD%93%E7%9A%84%E7%89%B9%E5%BE%B4\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6\uff1a\u795e\u7d4c\u767a\u9054\u3068\u8eab\u4f53\u7684\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u3001\u8133\u306e\u767a\u9054\u3068\u6a5f\u80fd\u306b\u6df1\u304f\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002\u6b20\u5931\u306e\u7bc4\u56f2\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308b\u305f\u3081\u3001\u3059\u3079\u3066\u306e\u304a\u5b50\u69d8\u306b\u4ee5\u4e0b\u306e\u75c7\u72b6\u304c\u5f53\u3066\u306f\u307e\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u591a\u304f\u898b\u3089\u308c\u308b\u7279\u5fb4\u3092\u8a73\u3057\u304f\u8aac\u660e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E9%87%8D%E5%BA%A6%E3%81%AE%E7%B2%BE%E7%A5%9E%E9%81%8B%E5%8B%95%E7%99%BA%E9%81%94%E9%81%85%E6%BB%9E\"><\/span><strong>\u2460 \u91cd\u5ea6\u306e\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6700\u3082\u4e2d\u5fc3\u7684\u306a\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7c97\u5927\u904b\u52d5\u306e\u9045\u308c<\/strong>: \u9996\u5ea7\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u3068\u3044\u3063\u305f\u904b\u52d5\u306e\u767a\u9054\u304c\u8457\u3057\u304f\u3086\u3063\u304f\u308a\u3067\u3059\u3002\u591a\u304f\u306e\u5834\u5408\u3001\u72ec\u6b69\uff08\u4e00\u4eba\u6b69\u304d\uff09\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308b\u307e\u3067\u306b\u6642\u9593\u304c\u304b\u304b\u308a\u3001\u4e2d\u306b\u306f\u79fb\u52d5\u306b\u4ecb\u52a9\u304c\u5fc5\u8981\u306a\u65b9\u3082\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u306a\u767a\u9054<\/strong>: \u307b\u3068\u3093\u3069\u306e\u30b1\u30fc\u30b9\u3067\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3044\u307e\u3059\u3002\u5468\u56f2\u306e\u72b6\u6cc1\u3092\u7406\u89e3\u3059\u308b\u529b\u306f\u3042\u3063\u3066\u3082\u3001\u305d\u308c\u3092\u8868\u73fe\u3059\u308b\u3053\u3068\u304c\u96e3\u3057\u3044\u3068\u3044\u3046\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E8%A8%80%E8%AA%9E%E7%8D%B2%E5%BE%97%E3%81%AE%E5%9B%B0%E9%9B%A3\"><\/span><strong>\u2461 \u8a00\u8a9e\u7372\u5f97\u306e\u56f0\u96e3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306b\u304a\u3044\u3066\u3001\u6709\u610f\u8a9e\uff08\u610f\u5473\u306e\u3042\u308b\u8a00\u8449\uff09\u306e\u7372\u5f97\u304c\u975e\u5e38\u306b\u96e3\u3057\u3044\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8a00\u8449\u304c\u51fa\u306a\u3044\uff08\u7121\u767a\u8a9e\uff09<\/strong>: \u8a00\u8449\u3092\u8a71\u3059\u4ee3\u308f\u308a\u306b\u3001\u8868\u60c5\u3084\u72ec\u7279\u306e\u58f0\u3001\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u3067\u610f\u601d\u3092\u4f1d\u3048\u3088\u3046\u3068\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u5de5\u592b<\/strong>: \u8996\u899a\u7684\u306a\u30ab\u30fc\u30c9\u3001\u8996\u7dda\u5165\u529b\u88c5\u7f6e\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u306a\u3069\u306e\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\uff08AAC\uff09\u304c\u3001\u304a\u5b50\u69d8\u306e\u300c\u4f1d\u3048\u305f\u3044\u300d\u3068\u3044\u3046\u6c17\u6301\u3061\u3092\u652f\u3048\u308b\u9375\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%A8%E8%84%B3%E6%B3%A2%E3%81%AE%E7%95%B0%E5%B8%B8\"><\/span><strong>\u2462 \u3066\u3093\u304b\u3093\u3068\u8133\u6ce2\u306e\u7570\u5e38<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u306f\u3001\u9ad8\u3044\u78ba\u7387\u3067<strong>\u3066\u3093\u304b\u3093<\/strong>\u3092\u5408\u4f75\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u75c7\u6642\u671f<\/strong>: \u4e73\u5150\u671f\u304b\u3089\u5e7c\u5150\u671f\u306b\u304b\u3051\u3066\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u300c\u70b9\u982d\u3066\u3093\u304b\u3093\uff08\u30a6\u30a8\u30b9\u30c8\u75c7\u5019\u7fa4\uff09\u300d\u306e\u3088\u3046\u306a\u7279\u6b8a\u306a\u30bf\u30a4\u30d7\u304b\u3089\u3001\u5168\u8eab\u3092\u786c\u76f4\u3055\u305b\u308b\u30bf\u30a4\u30d7\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u96e3\u6cbb\u6027<\/strong>: \u6297\u3066\u3093\u304b\u3093\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u3084\u3059\u3044\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u8907\u6570\u306e\u85ac\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u5fc5\u8981\u304c\u3042\u308b\u96e3\u6cbb\u6027\u306e\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A3_%E7%AD%8B%E7%B7%8A%E5%BC%B5%E4%BD%8E%E4%B8%8B%EF%BC%88%E4%BD%8E%E7%B7%8A%E5%BC%B5%EF%BC%89\"><\/span><strong>\u2463 \u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7b4b\u8089\u306e\u5f35\u308a\u304c\u5f31\u304f\u3001\u4f53\u304c\u67d4\u3089\u304b\u3044\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u904b\u52d5\u3078\u306e\u5f71\u97ff<\/strong>: \u4f53\u5e79\u304c\u3057\u3063\u304b\u308a\u3057\u306b\u304f\u3044\u305f\u3081\u3001\u59ff\u52e2\u3092\u4fdd\u3064\u306e\u304c\u96e3\u3057\u304b\u3063\u305f\u308a\u3001\u75b2\u308c\u3084\u3059\u304b\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6442\u98df\u30fb\u56a5\u4e0b\u306e\u554f\u984c<\/strong>: \u53e3\u306e\u5468\u308a\u306e\u7b4b\u8089\u3082\u5f31\u3044\u305f\u3081\u3001\u98df\u3079\u7269\u3092\u3046\u307e\u304f\u565b\u307f\u7815\u3044\u305f\u308a\u3001\u98f2\u307f\u8fbc\u3093\u3060\u308a\u3059\u308b\u3053\u3068\u304c\u82e6\u624b\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\uff08\u6442\u98df\u56a5\u4e0b\u969c\u5bb3\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A4_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E8%A1%8C%E5%8B%95\"><\/span><strong>\u2464 \u7279\u5fb4\u7684\u306a\u884c\u52d5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u3068\u4f3c\u305f\u884c\u52d5\u69d8\u5f0f\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e38\u540c\u884c\u52d5<\/strong>: \u624b\u3092\u53e3\u5143\u306b\u6301\u3063\u3066\u3044\u304f\u3001\u624b\u3092\u63c9\u3080\u3001\u30d1\u30c1\u30d1\u30c1\u3068\u53e9\u304f\u3068\u3044\u3063\u305f\u52d5\u4f5c\u3092\u7e70\u308a\u8fd4\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7761\u7720\u969c\u5bb3<\/strong>: \u5bdd\u3064\u304d\u304c\u60aa\u3044\u3001\u591c\u4e2d\u306b\u4f55\u5ea6\u3082\u76ee\u304c\u899a\u3081\u308b\u3068\u3044\u3063\u305f\u7761\u7720\u306e\u30ea\u30ba\u30e0\u306e\u4e71\u308c\u304c\u898b\u3089\u308c\u3084\u3059\u304f\u3001\u3054\u5bb6\u65cf\u306e\u8ca0\u62c5\u306b\u306a\u308b\u3053\u3068\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u75db\u307f\u3078\u306e\u920d\u611f\u3055<\/strong>: \u75db\u307f\u3092\u611f\u3058\u306b\u304f\u3044\u3001\u3042\u308b\u3044\u306f\u75db\u307f\u306b\u904e\u5270\u306b\u53cd\u5fdc\u3059\u308b\u306a\u3069\u3001\u611f\u899a\u306e\u51e6\u7406\u306b\u72ec\u7279\u306e\u504f\u308a\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A5_%E8%BA%AB%E4%BD%93%E7%9A%84%E3%83%BB%E9%A1%94%E7%AB%8B%E3%81%A1%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>\u2465 \u8eab\u4f53\u7684\u30fb\u9854\u7acb\u3061\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9855\u8457\u306a\u5947\u5f62\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u306f\u7a00\u3067\u3059\u304c\u3001\u8efd\u5fae\u306a\u7279\u5fb4\u3068\u3057\u3066\u4ee5\u4e0b\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9ad8\u3044\u984d\u3068\u5e83\u3044\u524d\u982d\u90e8<\/strong>: \u304a\u3067\u3053\u304c\u5e83\u304f\u3001\u5f35\u308a\u51fa\u3057\u3066\u3044\u308b\u3088\u3046\u306b\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5e73\u5766\u306a\u9f3b\u6839\u90e8<\/strong>: \u76ee\u3068\u76ee\u306e\u9593\u306e\u9f3b\u306e\u4ed8\u3051\u6839\u304c\u5c11\u3057\u5e73\u3089\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e0a\u5411\u304d\u306e\u9f3b\u5b54<\/strong>: \u9f3b\u306e\u7a74\u304c\u5c11\u3057\u4e0a\u3092\u5411\u3044\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5927\u304d\u306a\u8033<\/strong>: \u8033\u304c\u901a\u5e38\u3088\u308a\u3084\u3084\u5927\u304d\u3044\u3001\u3042\u308b\u3044\u306f\u5f62\u304c\u7279\u5fb4\u7684\u3067\u3042\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%93%E3%82%8B%E3%81%AE%E3%81%8B\"><\/span><strong>3. \u539f\u56e0\uff1a\u306a\u305c\u8d77\u3053\u308b\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306f\u3001\u907a\u4f1d\u5b50\u306e\u300c\u66f8\u304d\u63db\u3048\u300d\u3084\u300c\u611f\u67d3\u300d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u969b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5375\u304c\u5206\u88c2\u3059\u308b\u975e\u5e38\u306b\u521d\u671f\u306e\u6bb5\u968e\u3067\u8d77\u3053\u3063\u305f\u300c\u5076\u767a\u7684\u306a\u5909\u5316\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%EF%BC%88de_novo%EF%BC%89\"><\/span><strong>\u7a81\u7136\u5909\u7570\uff08de novo\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>5q14.3\u6b20\u5931\u306e\u7d049\u5272\u4ee5\u4e0a\u306f\u3001\u3054\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306b\u306f\u4f55\u306e\u554f\u984c\u3082\u306a\u3044\u3001\u7a81\u7136\u5909\u7570\uff08de novo\uff1a\u30c7\u30fb\u30ce\u30dc\uff09\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3054\u4e21\u89aa\u306e\u598a\u5a20\u4e2d\u306e\u884c\u52d5\u3001\u98df\u4e8b\u3001\u85ac\u306e\u670d\u7528\u306a\u3069\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u8ab0\u306e\u8eab\u306b\u3082\u8d77\u3053\u308a\u3046\u308b\u3001\u81ea\u7136\u754c\u306e\u30b3\u30d4\u30fc\u30df\u30b9\u306e\u3088\u3046\u306a\u3082\u306e\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9F%93%E8%89%B2%E4%BD%93%E8%BB%A2%E5%BA%A7%E3%81%AE%E5%8F%AF%E8%83%BD%E6%80%A7\"><\/span><strong>\u67d3\u8272\u4f53\u8ee2\u5ea7\u306e\u53ef\u80fd\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3054\u304f\u7a00\u306b\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u304c\u3001\u60c5\u5831\u306e\u904e\u4e0d\u8db3\u306f\u306a\u3044\u72b6\u614b\uff09\u300d\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u907a\u4f1d\u306e\u53ef\u80fd\u6027\u3092\u8003\u616e\u3057\u3001\u5c02\u9580\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>4. \u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u4e00\u822c\u7684\u306a\u8840\u6db2\u691c\u67fb\u3084\u753b\u50cf\u691c\u67fb\u3060\u3051\u3067\u306f\u78ba\u5b9a\u8a3a\u65ad\u304c\u3067\u304d\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%A2%E3%83%AC%E3%82%A4%E6%A4%9C%E6%9F%BB%EF%BC%88CMA%EF%BC%89\"><\/span><strong>\u2460 \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff08CMA\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u73fe\u5728\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b\u7b2c\u4e00\u9078\u629e\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9855\u5fae\u93e1\u3067\u306f\u898b\u3048\u306a\u3044\u30ec\u30d9\u30eb\u306e\u5fae\u7d30\u306a\u907a\u4f1d\u60c5\u5831\u306e\u904e\u4e0d\u8db3\uff08\u6b20\u5931\u3084\u91cd\u8907\uff09\u3092\u3001\u30c1\u30c3\u30d7\u3092\u4f7f\u3063\u3066\u7db2\u7f85\u7684\u306b\u8abf\u3079\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u30015q14.3\u9818\u57df\u306e\u6b20\u5931\u3092\u78ba\u5b9f\u306b\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E6%AC%A1%E4%B8%96%E4%BB%A3%E3%82%B7%E3%83%BC%E3%82%B1%E3%83%B3%E3%82%B7%E3%83%B3%E3%82%B0%EF%BC%88NGS%EF%BC%89_%E5%85%A8%E3%82%A8%E3%82%AD%E3%82%BD%E3%83%BC%E3%83%A0%E8%A7%A3%E6%9E%90\"><\/span><strong>\u2461 \u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09 \/ \u5168\u30a8\u30ad\u30bd\u30fc\u30e0\u89e3\u6790<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>5q14.3\u9818\u57df\u306e\u5927\u304d\u306a\u6b20\u5931\u3067\u306f\u306a\u304f\u3001MEF2C\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u306e\u4e2d\u306b\u5c0f\u3055\u306a\u6587\u5b57\u306e\u8aad\u307f\u9593\u9055\u3044\uff08\u70b9\u5909\u7570\uff09\u304c\u3042\u308b\u5834\u5408\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u3067\u306f\u898b\u3064\u304b\u3089\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u969b\u3001\u907a\u4f1d\u5b50\u306e\u6587\u5b57\u3092\u4e00\u3064\u305a\u3064\u8aad\u307f\u89e3\u304f\u3053\u306e\u691c\u67fb\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E8%84%B3%E6%B3%A2%E6%A4%9C%E6%9F%BB%E3%81%A8MRI\"><\/span><strong>\u2462 \u8133\u6ce2\u691c\u67fb\u3068MRI<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8133\u6ce2\u691c\u67fb<\/strong>: \u3066\u3093\u304b\u3093\u306e\u6709\u7121\u3084\u3001\u8133\u306e\u6d3b\u52d5\u72b6\u614b\u3092\u8abf\u3079\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>MRI<\/strong>: \u8133\u306e\u69cb\u9020\u306b\u7570\u5e38\uff08\u8133\u6881\u306e\u4f4e\u5f62\u6210\u306a\u3069\uff09\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/24273313_s.webp\" alt=\"\u533b\u8005\" class=\"wp-image-121555\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E5%A4%9A%E8%81%B7%E7%A8%AE%E3%83%81%E3%83%BC%E3%83%A0%E3%81%AB%E3%82%88%E3%82%8B%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span><strong>5. \u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u591a\u8077\u7a2e\u30c1\u30fc\u30e0\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u6642\u70b9\u3067\u306f\u3001\u5931\u308f\u308c\u305f\u907a\u4f1d\u5b50\u3092\u5143\u306b\u623b\u3059\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u75c7\u72b6\u306b\u5408\u308f\u305b\u3066\u300c\u30aa\u30fc\u30c0\u30fc\u30e1\u30a4\u30c9\u306e\u5bfe\u75c7\u7642\u6cd5\u300d\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u304c\u6301\u3066\u308b\u529b\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3057\u3001\u5065\u3084\u304b\u306b\u904e\u3054\u3059\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8C%BB%E7%99%82%E9%9D%A2%E3%81%A7%E3%81%AE%E7%AE%A1%E7%90%86\"><\/span><strong>\u533b\u7642\u9762\u3067\u306e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\u6cbb\u7642<\/strong>: \u5c0f\u5150\u795e\u7d4c\u79d1\u533b\u306e\u3082\u3068\u3067\u3001\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u306b\u5408\u308f\u305b\u305f\u6297\u3066\u3093\u304b\u3093\u85ac\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6804\u990a\u7ba1\u7406<\/strong>: \u98f2\u307f\u8fbc\u307f\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\u3001\u98df\u4e8b\u306e\u5f62\u614b\uff08\u3068\u308d\u307f\u3084\u30df\u30ad\u30b5\u30fc\u98df\uff09\u3092\u5de5\u592b\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u6804\u990a\u5264\u306a\u3069\u3092\u4f75\u7528\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%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>\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<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09<\/strong>: \u4f53\u5e79\u3092\u935b\u3048\u3001\u88c5\u5177\u306a\u3069\u3092\u7528\u3044\u3066\u5ea7\u4f4d\u3084\u6b69\u884c\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09<\/strong>: \u624b\u5148\u306e\u64cd\u4f5c\u3084\u3001\u611f\u899a\u306e\u7d71\u5408\u3001\u904a\u3073\u3092\u901a\u3058\u305f\u767a\u9054\u652f\u63f4\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09<\/strong>: \u98df\u3079\u308b\u7df4\u7fd2\u3068\u3068\u3082\u306b\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u306e\u69cb\u7bc9\uff08\u8996\u7dda\u5165\u529b\u88c5\u7f6e\u306e\u5c0e\u5165\u306a\u3069\uff09\u3092\u652f\u63f4\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%97%A5%E6%9C%AC%E3%81%AB%E3%81%8A%E3%81%91%E3%82%8B%E6%94%AF%E6%8F%B4%E5%88%B6%E5%BA%A6\"><\/span><strong>\u65e5\u672c\u306b\u304a\u3051\u308b\u652f\u63f4\u5236\u5ea6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u65e5\u672c\u306b\u306f\u3001\u3053\u306e\u3088\u3046\u306a\u96e3\u75c5\u3084\u91cd\u5ea6\u969c\u5bb3\u3092\u6301\u3064\u304a\u5b50\u69d8\u3068\u3054\u5bb6\u65cf\u3092\u652f\u3048\u308b\u305f\u3081\u306e\u5236\u5ea6\u304c\u6574\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u306e\u533b\u7642\u8cbb\u52a9\u6210<\/strong>: 5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u305d\u306e\u4e3b\u75c7\u72b6\u3084\u5408\u4f75\u75c7\u306b\u3088\u3063\u3066\u52a9\u6210\u306e\u5bfe\u8c61\u3068\u306a\u308b\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7642\u80b2\u624b\u5e33\uff08\u611b\u306e\u624b\u5e33\u306a\u3069\uff09<\/strong>: \u65e9\u671f\u306b\u53d6\u5f97\u3059\u308b\u3053\u3068\u3067\u3001\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u3084\u624b\u5f53\u306e\u53d7\u7d66\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u969c\u5bb3\u5150\u901a\u6240\u652f\u63f4<\/strong>: \u5150\u7ae5\u767a\u9054\u652f\u63f4\u4e8b\u696d\u6240\u3084\u653e\u8ab2\u5f8c\u7b49\u30c7\u30a4\u30b5\u30fc\u30d3\u30b9\u3067\u306e\u7642\u80b2\u3092\u5229\u7528\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>6. \u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u8133\u306e\u767a\u9054\u306b\u4e0d\u53ef\u6b20\u306aMEF2C\u907a\u4f1d\u5b50\u306e\u6b20\u640d\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u306f\u3086\u3063\u304f\u308a<\/strong>: \u904b\u52d5\u3084\u8a00\u8449\u306e\u767a\u9054\u306b\u6642\u9593\u306f\u304b\u304b\u308a\u307e\u3059\u304c\u3001\u304a\u5b50\u69d8\u306a\u308a\u306e\u30da\u30fc\u30b9\u3067\u6210\u9577\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\u3078\u306e\u6ce8\u610f<\/strong>: \u65e9\u671f\u306e\u8a3a\u65ad\u3068\u9069\u5207\u306a\u85ac\u7269\u7642\u6cd5\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u53ef\u80fd\u6027<\/strong>: \u8a00\u8449\u304c\u51fa\u306a\u304f\u3066\u3082\u3001\u30c6\u30af\u30ce\u30ed\u30b8\u30fc\u3084\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u3092\u901a\u3058\u3066\u5fc3\u3092\u901a\u308f\u305b\u308b\u65b9\u6cd5\u306f\u305f\u304f\u3055\u3093\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\"><\/span><strong>7. \u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u304a\u5b50\u69d8\u306e\u8a3a\u65ad\u540d\u304c\u5206\u304b\u308a\u3001\u5b89\u5835\u3055\u308c\u305f\u4e00\u65b9\u3067\u3001\u305d\u306e\u5185\u5bb9\u306e\u91cd\u3055\u306b\u7acb\u3061\u6b62\u307e\u3063\u3066\u304a\u3089\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u300c\u3069\u3046\u3057\u3066\u3053\u306e\u5b50\u304c\u300d\u3068\u3044\u3046\u554f\u3044\u306b\u306f\u3001\u8ab0\u3082\u7b54\u3048\u3092\u6301\u3061\u5408\u308f\u305b\u3066\u3044\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u4e00\u3064\u3060\u3051\u78ba\u304b\u306a\u3053\u3068\u306f\u3001<strong>\u3042\u306a\u305f\u306f\u304a\u5b50\u69d8\u306b\u3068\u3063\u3066\u4e16\u754c\u3067\u552f\u4e00\u306e\u3001\u305d\u3057\u3066\u6700\u9ad8\u306e\u7406\u89e3\u8005\u3067\u3042\u308b<\/strong>\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u306f\u3001\u78ba\u304b\u306b\u652f\u63f4\u3092\u5fc5\u8981\u3068\u3059\u308b\u5834\u9762\u304c\u591a\u3044\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u5f7c\u3089\u306f\u8a00\u8449\u306e\u58c1\u3092\u8d85\u3048\u305f\u8c4a\u304b\u306a\u8868\u60c5\u3084\u3001\u97f3\u697d\u3078\u306e\u53cd\u5fdc\u3001\u5bb6\u65cf\u3078\u306e\u6df1\u3044\u611b\u60c5\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u6628\u65e5\u306f\u3067\u304d\u306a\u304b\u3063\u305f\u3053\u3068\u304c\u3001\u4eca\u65e5\u3001\u5076\u7136\u306e\u3088\u3046\u306b\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308b\u3002\u305d\u306e\u77ac\u9593\u306e\u559c\u3073\u306f\u3001\u4f55\u7269\u306b\u3082\u4ee3\u3048\u304c\u305f\u3044\u5149\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7a00\u306a\u75be\u60a3\u3067\u3042\u308b\u304b\u3089\u3053\u305d\u3001\u540c\u3058\u5883\u9047\u306e\u5bb6\u65cf\u3068\u3064\u306a\u304c\u308b\u3053\u3068\u306f\u5927\u304d\u306a\u529b\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>MEF2C\u95a2\u9023\u306e\u5bb6\u65cf\u4f1a<\/strong>: \u4e16\u754c\u4e2d\u306b\u306f\u3001\u3053\u306e\u75be\u60a3\u3092\u5171\u306b\u6b69\u3080\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u304c\u3042\u308a\u307e\u3059\u3002SNS\u3084\u65e5\u672c\u306e\u5e0c\u5c11\u75be\u60a3\u60a3\u8005\u4f1a\u306a\u3069\u3092\u901a\u3058\u3066\u3001\u60c5\u5831\u3092\u4ea4\u63db\u3057\u3066\u307f\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n\n\n\n<li><strong>\u30ec\u30b9\u30d1\u30a4\u30c8\uff08\u4f11\u606f\uff09\u3092\u5927\u5207\u306b<\/strong>: \u6bce\u65e5\u306e\u30b1\u30a2\u306f\u9577\u671f\u6226\u3067\u3059\u3002\u30b7\u30e7\u30fc\u30c8\u30b9\u30c6\u30a4\u3084\u30d8\u30eb\u30d1\u30fc\u5229\u7528\u3092\u300c\u8d05\u6ca2\u300d\u3068\u601d\u308f\u305a\u3001\u3054\u5bb6\u65cf\u304c\u7b11\u9854\u3067\u3044\u3089\u308c\u308b\u305f\u3081\u306e\u5fc5\u8981\u306a\u30b9\u30c6\u30c3\u30d7\u3060\u3068\u6349\u3048\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u304a\u5b50\u69d8\u306e\u672a\u6765\u306f\u3001\u67d3\u8272\u4f53\u306e\u6570\u5b57\u3060\u3051\u3067\u6c7a\u307e\u308b\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u533b\u7642\u3001\u6559\u80b2\u3001\u798f\u7949\u3001\u305d\u3057\u3066\u4f55\u3088\u308a\u3054\u5bb6\u65cf\u306e\u611b\u60c5\u3068\u3044\u3046\u30c1\u30fc\u30e0\u3067\u3001\u304a\u5b50\u69d8\u306e\u7d20\u6674\u3089\u3057\u3044\u500b\u6027\u3092\u80b2\u3093\u3067\u3044\u304d\u307e\u3057\u3087\u3046\u3002\u79c1\u305f\u3061\u306f\u3001\u3042\u306a\u305f\u3068\u3054\u5bb6\u65cf\u306e\u6b69\u307f\u3092\u5fc3\u304b\u3089\u5fdc\u63f4\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n","protected":false},"excerpt":{"rendered":"\u304a\u5b50\u69d8\u304c\u300c5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":116722,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-121604","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\/121604","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=121604"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121604\/revisions"}],"predecessor-version":[{"id":121605,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121604\/revisions\/121605"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/116722"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121604"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=121604"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=121604"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}