{"id":121705,"date":"2026-01-07T16:10:31","date_gmt":"2026-01-07T07:10:31","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121705"},"modified":"2026-01-07T16:10:33","modified_gmt":"2026-01-07T07:10:33","slug":"7q36-3-duplication-syndrome-2","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q36-3-duplication-syndrome-2\/","title":{"rendered":"7q36.3\u91cd\u8907\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<p>\u304a\u5b50\u3055\u3093\u3084\u3054\u5bb6\u65cf\u304c\u300c7q36.3\u91cd\u8907\u300d\u3068\u3044\u3046\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3068\u304d\u3001\u591a\u304f\u306e\u65b9\u304c\u305d\u306e\u60c5\u5831\u306e\u5c11\u306a\u3055\u306b\u6238\u60d1\u3044\u3001\u5b64\u72ec\u611f\u3084\u4e0d\u5b89\u3092\u611f\u3058\u308b\u3053\u3068\u3067\u3057\u3087\u3046\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u6570\u3042\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306e\u4e2d\u3067\u3082\u975e\u5e38\u306b\u7a00\u306a\u300c\u5e0c\u5c11\u67d3\u8272\u4f53\u69cb\u9020\u7570\u5e38\u300d\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u3001\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u4e0a\u306b\u3042\u308b\u60c5\u5831\u306e\u591a\u304f\u306f\u82f1\u8a9e\u306e\u5c02\u9580\u8ad6\u6587\u3067\u3042\u308a\u3001\u65e5\u672c\u8a9e\u3067\u4f53\u7cfb\u7684\u306b\u307e\u3068\u3081\u3089\u308c\u305f\u30b5\u30a4\u30c8\u306f\u307b\u3068\u3093\u3069\u3042\u308a\u307e\u305b\u3093\u3002\u3053\u306e\u8a18\u4e8b\u306f\u3001\u5c02\u9580\u7528\u8a9e\u306b\u306f\u7c21\u5358\u306a\u89e3\u8aac\u3092\u6dfb\u3048\u3001\u8a73\u7d30\u306a\u8a18\u8ff0\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u6210\u9577\u3092\u652f\u3048\u308b\u305f\u3081\u306e\u60c5\u5831\u3092\u7db2\u7f85\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<div id=\"ez-toc-container\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q36-3-duplication-syndrome-2\/#%E2%91%A1_%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C%E3%81%A8%E7%9F%A5%E7%9A%84%E7%89%B9%E6%80%A7\" >\u2461 \u767a\u9054\u306e\u9045\u308c\u3068\u77e5\u7684\u7279\u6027<\/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\/7q36-3-duplication-syndrome-2\/#%E2%91%A2_%E9%A1%94%E7%AB%8B%E3%81%A1%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%88%E9%A1%94%E8%B2%8C%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%89\" >\u2462 \u9854\u7acb\u3061\u306e\u7279\u5fb4\uff08\u9854\u8c8c\u306e\u7279\u5fb4\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\/7q36-3-duplication-syndrome-2\/#%E2%91%A3_%E8%84%B3%E3%81%8A%E3%82%88%E3%81%B3%E7%A5%9E%E7%B5%8C%E7%B3%BB%E3%81%AE%E7%89%B9%E5%BE%B4\" >\u2463 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q36-3-duplication-syndrome-2\/#%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%EF%BC%88de_novo%E5%A4%89%E7%95%B0%EF%BC%89\" >\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\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\/7q36-3-duplication-syndrome-2\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E9%81%8E%E5%89%B0%E7%99%BA%E7%8F%BE%E3%81%A8_SHH_%E9%81%BA%E4%BC%9D%E5%AD%90\" >\u907a\u4f1d\u5b50\u306e\u904e\u5270\u767a\u73fe\u3068 SHH \u907a\u4f1d\u5b50<\/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\/7q36-3-duplication-syndrome-2\/#%E9%81%BA%E4%BC%9D%E3%81%AE%E5%8F%AF%E8%83%BD%E6%80%A7%EF%BC%88%E5%9D%87%E8%A1%A1%E5%9E%8B%E8%BB%A2%E5%BA%A7%EF%BC%89\" >\u907a\u4f1d\u306e\u53ef\u80fd\u6027\uff08\u5747\u8861\u578b\u8ee2\u5ea7\uff09<\/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\/7q36-3-duplication-syndrome-2\/#4_%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\" >4. \u8a3a\u65ad\u3068\u691c\u67fb<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q36-3-duplication-syndrome-2\/#%E2%91%A0_%E6%9F%93%E8%89%B2%E4%BD%93%E5%88%86%E6%9F%93%E6%B3%95%EF%BC%88G-%E3%83%90%E3%83%B3%E3%83%89%E6%B3%95%EF%BC%89\" >\u2460 \u67d3\u8272\u4f53\u5206\u67d3\u6cd5\uff08G-\u30d0\u30f3\u30c9\u6cd5\uff09<\/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\/7q36-3-duplication-syndrome-2\/#%E2%91%A1_%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\" >\u2461 \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff08CMA\uff09<\/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\/7q36-3-duplication-syndrome-2\/#%E2%91%A2_%E7%94%BB%E5%83%8F%E8%A8%BA%E6%96%AD\" >\u2462 \u753b\u50cf\u8a3a\u65ad<\/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\/7q36-3-duplication-syndrome-2\/#5_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E3%81%8A%E5%AD%90%E3%81%95%E3%82%93%E3%81%AE%E5%8F%AF%E8%83%BD%E6%80%A7%E3%82%92%E6%94%AF%E3%81%88%E3%82%8B\" >5. \u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u304a\u5b50\u3055\u3093\u306e\u53ef\u80fd\u6027\u3092\u652f\u3048\u308b<\/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\/7q36-3-duplication-syndrome-2\/#%E5%90%84%E8%A8%BA%E7%99%82%E7%A7%91%E3%81%AB%E3%82%88%E3%82%8B%E5%8C%85%E6%8B%AC%E7%9A%84%E3%81%AA%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >\u5404\u8a3a\u7642\u79d1\u306b\u3088\u308b\u5305\u62ec\u7684\u306a\u30b5\u30dd\u30fc\u30c8<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q36-3-duplication-syndrome-2\/#%E5%AD%A6%E6%A0%A1%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E9%85%8D%E6%85%AE\" >\u5b66\u6821\u751f\u6d3b\u3067\u306e\u914d\u616e<\/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\/7q36-3-duplication-syndrome-2\/#6_%E3%81%BE%E3%81%A8%E3%82%81%EF%BC%9A%E7%9F%A5%E3%81%A3%E3%81%A6%E3%81%8A%E3%81%8D%E3%81%9F%E3%81%84%E3%83%9D%E3%82%A4%E3%83%B3%E3%83%88\" >6. \u307e\u3068\u3081\uff1a\u77e5\u3063\u3066\u304a\u304d\u305f\u3044\u30dd\u30a4\u30f3\u30c8<\/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\/7q36-3-duplication-syndrome-2\/#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_%E6%A6%82%E8%A6%81%EF%BC%9A7q363%E9%87%8D%E8%A4%87%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span><strong>1. \u6982\u8981\uff1a7q36.3\u91cd\u8907\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%A8%E3%80%8C%E9%87%8D%E8%A4%87%E3%80%8D%E3%81%AE%E5%9F%BA%E7%A4%8E%E7%9F%A5%E8%AD%98\"><\/span><strong>\u67d3\u8272\u4f53\u3068\u300c\u91cd\u8907\u300d\u306e\u57fa\u790e\u77e5\u8b58<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u79c1\u305f\u3061\u306e\u4f53\u3092\u4f5c\u308b\u305f\u3081\u306e\u8a2d\u8a08\u56f3\u306f\u3001\u7d30\u80de\u306e\u4e2d\u306b\u3042\u308b\u300c\u67d3\u8272\u4f53\u300d\u3068\u3044\u3046\u69cb\u9020\u4f53\u306b\u66f8\u304d\u8fbc\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u4eba\u9593\u306b\u306f\u901a\u5e38\u300123\u5bfe\uff08\u5408\u8a0846\u672c\uff09\u306e\u67d3\u8272\u4f53\u304c\u3042\u308a\u307e\u3059\u3002\u305d\u308c\u305e\u308c\u306e\u67d3\u8272\u4f53\u306f\u3001\u4e2d\u5fc3\u306e\u304f\u3073\u308c\u3092\u5883\u306b\u3001\u77ed\u3044\u65b9\u3092\u300c\u77ed\u8155\uff08p\uff09\u300d<strong>\u3001\u9577\u3044\u65b9\u3092<\/strong>\u300c\u9577\u8155\uff08q\uff09\u300d\u3068\u547c\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c7q36.3\u91cd\u8907\u300d\u3068\u306f\u30017\u756a\u76ee\u306b\u3042\u308b\u67d3\u8272\u4f53\u306e\u9577\u3044\u65b9\u306e\u8155\uff08q\uff09\u306e\u3001\u3055\u3089\u306b\u4e00\u756a\u7aef\u306b\u3042\u305f\u308b\u300c36.3\u300d\u3068\u3044\u3046\u9818\u57df\u306e\u907a\u4f1d\u60c5\u5831\u304c\u3001\u901a\u5e38\u3088\u308a\u3082\u591a\u304f\uff082\u56de\u4ee5\u4e0a\uff09\u5b58\u5728\u3057\u3066\u3044\u308b\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%AA%E3%81%9C%E9%87%8D%E8%A4%87%E3%81%8C%E5%95%8F%E9%A1%8C%E3%81%AB%E3%81%AA%E3%82%8B%E3%81%AE%E3%81%8B\"><\/span><strong>\u306a\u305c\u91cd\u8907\u304c\u554f\u984c\u306b\u306a\u308b\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u907a\u4f1d\u60c5\u5831\u306f\u3001\u591a\u3059\u304e\u3066\u3082\u5c11\u306a\u3059\u304e\u3066\u3082\u3001\u4f53\u306e\u5f62\u6210\u3084\u767a\u9054\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002\u4f8b\u3048\u308b\u306a\u3089\u3001\u6599\u7406\u306e\u30ec\u30b7\u30d4\uff08\u907a\u4f1d\u5b50\uff09\u306b\u304a\u3044\u3066\u3001\u7279\u5b9a\u306e\u6750\u6599\u3060\u3051\u304c2\u500d\u306e\u91cf\u306b\u306a\u3063\u3066\u3057\u307e\u3044\u3001\u5168\u4f53\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3066\u3057\u307e\u3046\u3088\u3046\u306a\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p>7q36.3\u9818\u57df\u306b\u306f\u3001\u4f53\u306e\u5f62\u3001\u7279\u306b\u300c\u624b\u8db3\u306e\u6307\u300d\u3084\u300c\u8133\u306e\u767a\u9054\u300d\u306b\u6975\u3081\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u907a\u4f1d\u5b50\u3084\u3001\u305d\u306e\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u8abf\u7bc0\u3059\u308b\u9818\u57df\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u305f\u3081\u3001\u3053\u306e\u90e8\u5206\u304c\u91cd\u8907\u3059\u308b\u3068\u3001\u9aa8\u683c\u306e\u5f62\u6210\u3084\u795e\u7d4c\u7cfb\u306e\u767a\u9054\u306b\u7279\u5fb4\u7684\u306a\u5909\u5316\u304c\u73fe\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=\"%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%97%E3%81%A6%E3%81%AE%E5%80%8B%E5%88%A5%E6%80%A7\"><\/span><strong>\u75c7\u5019\u7fa4\u3068\u3057\u3066\u306e\u500b\u5225\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>7q36.3\u91cd\u8907\u306f\u3001\u91cd\u8907\u3057\u3066\u3044\u308b\u7bc4\u56f2\u304c\u6570\u30df\u30ea\uff08\u30e1\u30ac\u30d9\u30fc\u30b9\uff09\u9055\u3046\u3060\u3051\u3067\u3001\u73fe\u308c\u308b\u75c7\u72b6\u304c\u5927\u304d\u304f\u5909\u308f\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u540c\u3058\u91cd\u8907\u7bc4\u56f2\u3067\u3042\u3063\u3066\u3082\u3001\u304a\u5b50\u3055\u3093\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u5f37\u3055\u304c\u7570\u306a\u308b\u300c\u8868\u73fe\u5ea6\u306e\u9055\u3044\u300d\u304c\u898b\u3089\u308c\u308b\u306e\u3082\u5927\u304d\u306a\u7279\u5fb4\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u8a3a\u65ad\u540d\u304c\u540c\u3058\u3067\u3042\u3063\u3066\u3082\u3001\u4e00\u4eba\u3072\u3068\u308a\u306e\u500b\u6027\u306b\u5408\u308f\u305b\u305f\u7406\u89e3\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%A8%E7%89%B9%E5%BE%B4\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6\u3068\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>7q36.3\u91cd\u8907\u75c7\u5019\u7fa4\u3067\u898b\u3089\u308c\u308b\u75c7\u72b6\u306f\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u304c\u3001\u7279\u306b\u300c\u624b\u8db3\u306e\u6307\u300d\u3068\u300c\u767a\u9054\u306e\u30da\u30fc\u30b9\u300d\u306b\u7279\u5fb4\u304c\u51fa\u3084\u3059\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E6%89%8B%E8%B6%B3%E3%81%AE%E5%BD%A2%E6%85%8B%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%88%E9%AA%A8%E6%A0%BC%E7%B3%BB%E3%81%AE%E7%95%B0%E5%B8%B8%EF%BC%89\"><\/span><strong>\u2460 \u624b\u8db3\u306e\u5f62\u614b\u7684\u7279\u5fb4\uff08\u9aa8\u683c\u7cfb\u306e\u7570\u5e38\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u56db\u80a2\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u9818\u57df\u304c\u3042\u308b\u305f\u3081\u3001\u624b\u8db3\u306e\u6307\u306b\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u975e\u5e38\u306b\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6bcd\u6307\u5074\u591a\u6307\u75c7\uff08\u307c\u3057\u304c\u304f\u305f\u3057\u3057\u3087\u3046\uff09\uff1a<\/strong> \u89aa\u6307\u5074\uff08\u6a48\u5074\uff09\u306b\u4f59\u5206\u306a\u6307\u304c\u3042\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e09\u7bc0\u6bcd\u6307\uff08\u3055\u3093\u305b\u3064\u307c\u3057\uff09\uff1a<\/strong> \u901a\u5e382\u3064\u306e\u9aa8\u3067\u3067\u304d\u3066\u3044\u308b\u89aa\u6307\u304c\u3001\u4ed6\u306e\u6307\u3068\u540c\u3058\u3088\u3046\u306b3\u3064\u306e\u9aa8\u3067\u69cb\u6210\u3055\u308c\u308b\u72b6\u614b\u3067\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u89aa\u6307\u304c\u9577\u304f\u898b\u3048\u305f\u308a\u3001\u52d5\u304d\u304c\u4ed6\u306e\u6307\u306b\u4f3c\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5408\u6307\u75c7\uff08\u3054\u3046\u3057\u3057\u3087\u3046\uff09\uff1a<\/strong> \u6307\u540c\u58eb\u304c\u76ae\u819a\u3084\u9aa8\u3067\u304f\u3063\u3064\u3044\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8ef8\u524d\u6027\u591a\u6307\u75c7\uff08PPD\uff09\uff1a<\/strong> 7q36.3\u9818\u57df\u306b\u3042\u308b\u300cZRS\u300d\u3068\u547c\u3070\u308c\u308b\u30b9\u30a4\u30c3\u30c1\u304c\u91cd\u8907\u3059\u308b\u3053\u3068\u3067\u3001\u6307\u306e\u5f62\u6210\u6307\u4ee4\u304c\u904e\u5270\u306b\u51fa\u3066\u3057\u307e\u3046\u305f\u3081\u306b\u8d77\u3053\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_%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C%E3%81%A8%E7%9F%A5%E7%9A%84%E7%89%B9%E6%80%A7\"><\/span><strong>\u2461 \u767a\u9054\u306e\u9045\u308c\u3068\u77e5\u7684\u7279\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u67d3\u8272\u4f53\u91cd\u8907\u75c7\u5019\u7fa4\u3068\u540c\u69d8\u306b\u3001\u5168\u4f53\u7684\u306a\u767a\u9054\u306f\u3086\u3063\u304f\u308a\u3068\u9032\u3080\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u904b\u52d5\u767a\u9054\u306e\u9045\u6ede\uff1a<\/strong> \u9996\u306e\u5ea7\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u306a\u3069\u306e\u767a\u9054\u304c\u6a19\u6e96\u3088\u308a\u6570\u30f6\u6708\u304b\u3089\u6570\u5e74\u3086\u3063\u304f\u308a\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u7b4b\u7dca\u5f35\uff08\u7b4b\u8089\u306e\u5f35\u308a\uff09\u306e\u5f31\u3055\u304c\u95a2\u4fc2\u3057\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\uff1a<\/strong> \u8a00\u8449\u306e\u7406\u89e3\u306f\u9032\u3093\u3067\u3044\u3066\u3082\u3001\u8a00\u8449\u3068\u3057\u3066\u767a\u3059\u308b\uff08\u8868\u51fa\uff09\u307e\u3067\u306b\u6642\u9593\u304c\u304b\u304b\u308b\u30b1\u30fc\u30b9\u304c\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff1a<\/strong> \u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4e2d\u306b\u306f\u77e5\u7684\u30ec\u30d9\u30eb\u304c\u6a19\u6e96\u7bc4\u56f2\u5185\u306b\u7559\u307e\u308b\u304a\u5b50\u3055\u3093\u3082\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E9%A1%94%E7%AB%8B%E3%81%A1%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%88%E9%A1%94%E8%B2%8C%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%89\"><\/span><strong>\u2462 \u9854\u7acb\u3061\u306e\u7279\u5fb4\uff08\u9854\u8c8c\u306e\u7279\u5fb4\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u304c\u904e\u5270\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u9854\u306e\u30d1\u30fc\u30c4\u306b\u3044\u304f\u3064\u304b\u306e\u5171\u901a\u3057\u305f\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u300c\u500b\u6027\u300d\u306e\u7bc4\u56f2\u5185\u3067\u3042\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u304c\u3001\u8a3a\u65ad\u306e\u52a9\u3051\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e83\u3044\u984d\uff1a<\/strong> \u304a\u3067\u3053\u304c\u5c11\u3057\u5e83\u304f\u3001\u5f35\u308a\u51fa\u3057\u3066\u3044\u308b\u3088\u3046\u306b\u898b\u3048\u308b\u3002<\/li>\n\n\n\n<li><strong>\u773c\u9593\u89e3\u96e2\uff08\u304c\u3093\u304b\u3093\u304b\u3044\u308a\uff09\uff1a<\/strong> \u4e21\u76ee\u306e\u9593\u9694\u304c\u5c11\u3057\u96e2\u308c\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u8033\u306e\u5f62\u614b\uff1a<\/strong> \u8033\u306e\u4f4d\u7f6e\u304c\u5c11\u3057\u4f4e\u304b\u3063\u305f\u308a\u3001\u5f62\u304c\u308f\u305a\u304b\u306b\u7570\u306a\u3063\u305f\u308a\u3059\u308b\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u984e\u75c7\uff08\u3057\u3087\u3046\u304c\u304f\u3057\u3087\u3046\uff09\uff1a<\/strong> \u4e0b\u3042\u3054\u304c\u901a\u5e38\u3088\u308a\u5c0f\u3055\u3081\u3067\u3042\u308b\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A3_%E8%84%B3%E3%81%8A%E3%82%88%E3%81%B3%E7%A5%9E%E7%B5%8C%E7%B3%BB%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>\u2463 \u8133\u304a\u3088\u3073\u795e\u7d4c\u7cfb\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u982d\u75c7\uff1a<\/strong> \u982d\u306e\u5927\u304d\u3055\u304c\u6a19\u6e96\u3088\u308a\u3082\u5c0f\u3055\u3081\u306b\u6210\u9577\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8133\u306e\u69cb\u9020\u7570\u5e38\uff1a<\/strong> \u7a00\u306b\u8133\u306eMRI\u691c\u67fb\u3067\u3001\u5de6\u53f3\u306e\u8133\u3092\u3064\u306a\u3050\u300c\u8133\u6881\uff08\u306e\u3046\u308a\u3087\u3046\uff09\u300d\u304c\u7d30\u3044\u306a\u3069\u306e\u6240\u898b\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\uff1a<\/strong> \u6210\u9577\u306b\u4f34\u3044\u3001\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A4_%E6%88%90%E9%95%B7%E3%81%A8%E6%A0%84%E9%A4%8A%E3%81%AE%E5%95%8F%E9%A1%8C\"><\/span><strong>\u2464 \u6210\u9577\u3068\u6804\u990a\u306e\u554f\u984c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8eab\u9577\uff1a<\/strong> \u6210\u9577\u30db\u30eb\u30e2\u30f3\u3084\u5168\u4f53\u7684\u306a\u4f53\u8cea\u306b\u3088\u308a\u3001\u8eab\u9577\u306e\u4f38\u3073\u304c\u7de9\u3084\u304b\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u54fa\u4e73\u30fb\u6442\u98df\u306e\u56f0\u96e3\uff1a<\/strong> \u4e73\u5e7c\u5150\u671f\u306b\u30df\u30eb\u30af\u3092\u98f2\u3080\u529b\u304c\u5f31\u304b\u3063\u305f\u308a\u3001\u96e2\u4e73\u98df\u306e\u9032\u307f\u304c\u3086\u3063\u304f\u308a\u3060\u3063\u305f\u308a\u3059\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%E9%87%8D%E8%A4%87%E3%81%8C%E8%B5%B7%E3%81%93%E3%82%8B%E3%81%AE%E3%81%8B\"><\/span><strong>3. \u539f\u56e0\uff1a\u306a\u305c\u91cd\u8907\u304c\u8d77\u3053\u308b\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u540d\u306e\u4e2d\u306b\u300c\u91cd\u8907\u300d\u3068\u3044\u3046\u8a00\u8449\u304c\u3042\u308b\u3068\u3001\u3054\u5bb6\u65cf\u306f\u300c\u81ea\u5206\u306e\u305b\u3044\u3067\u306f\u306a\u3044\u304b\u300d\u3068\u6df1\u304f\u60a9\u307e\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u305d\u308c\u306f\u660e\u78ba\u306a\u8aa4\u89e3\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%E5%A4%89%E7%95%B0%EF%BC%89\"><\/span><strong>\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>7q36.3\u91cd\u8907\u306e\u591a\u304f\u306f\u3001\u53d7\u7cbe\u5375\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u7d30\u80de\u5206\u88c2\u306e\u975e\u5e38\u306b\u65e9\u3044\u6bb5\u968e\u3067\u3001\u5076\u767a\u7684\u306b\u767a\u751f\u3059\u308b\u300c\u7a81\u7136\u5909\u7570\u300d\u3067\u3059\u3002\u3053\u308c\u3092\u5c02\u9580\u7528\u8a9e\u3067<strong>de novo\uff08\u30c7\u30fb\u30ce\u30dc\uff09\u5909\u7570<\/strong>\u3068\u547c\u3073\u307e\u3059\u3002 \u3053\u308c\u306f\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u969b\u306b\u3001\u907a\u4f1d\u60c5\u5831\u3092\u30b3\u30d4\u30fc\u3059\u308b\u30d7\u30ed\u30bb\u30b9\u3067\u300c\u305f\u307e\u305f\u307e\u300d\u8d77\u3053\u308b\u30a8\u30e9\u30fc\u306e\u3088\u3046\u306a\u3082\u306e\u3067\u3059\u3002\u8ab0\u306e\u8eab\u306b\u3082\u8d77\u3053\u308a\u3046\u308b\u81ea\u7136\u306e\u73fe\u8c61\u3067\u3042\u308a\u3001\u3054\u4e21\u89aa\u306e\u598a\u5a20\u4e2d\u306e\u98df\u4e8b\u3084\u751f\u6d3b\u7fd2\u6163\u3001\u30b9\u30c8\u30ec\u30b9\u306a\u3069\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E9%81%8E%E5%89%B0%E7%99%BA%E7%8F%BE%E3%81%A8_SHH_%E9%81%BA%E4%BC%9D%E5%AD%90\"><\/span><strong>\u907a\u4f1d\u5b50\u306e\u904e\u5270\u767a\u73fe\u3068 <\/strong><strong><em>SHH<\/em><\/strong><strong> \u907a\u4f1d\u5b50<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>7q36.3\u9818\u57df\u306b\u304a\u3044\u3066\u6700\u3082\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u306e\u4e00\u3064\u306b\u3001<strong>Sonic Hedgehog\uff08\u30bd\u30cb\u30c3\u30af\u30fb\u30d8\u30c3\u30b8\u30db\u30c3\u30b0\uff1a<\/strong><strong><em>SHH<\/em><\/strong><strong>\uff09\u907a\u4f1d\u5b50<\/strong>\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><em>SHH<\/em> \u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u306f7q36.3\u9818\u57df\u306b\u4f4d\u7f6e\u3057\u3066\u304a\u308a\u3001\u624b\u8db3\u306e\u6307\u306e\u6570\u3084\u8133\u306e\u5f62\u6210\u3092\u6307\u63ee\u3059\u308b\u300c\u73fe\u5834\u76e3\u7763\u300d\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>7q36.3\u306b\u5b58\u5728\u3059\u308b\u300cZRS\u300d\u3068\u3044\u3046\u30b9\u30a4\u30c3\u30c1\u90e8\u5206\u304c\u91cd\u8907\u3059\u308b\u3068\u3001\u3053\u306e <em>SHH<\/em> \u907a\u4f1d\u5b50\u304c\u300c\u6307\u3092\u3082\u3063\u3068\u4f5c\u308c\u300d\u3068\u3044\u3046\u904e\u5270\u306a\u547d\u4ee4\u3092\u51fa\u3057\u3066\u3057\u307e\u3044\u307e\u3059\u3002\u3053\u308c\u304c\u591a\u6307\u75c7\u3084\u4e09\u7bc0\u6bcd\u6307\u306e\u76f4\u63a5\u7684\u306a\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E3%81%AE%E5%8F%AF%E8%83%BD%E6%80%A7%EF%BC%88%E5%9D%87%E8%A1%A1%E5%9E%8B%E8%BB%A2%E5%BA%A7%EF%BC%89\"><\/span><strong>\u907a\u4f1d\u306e\u53ef\u80fd\u6027\uff08\u5747\u8861\u578b\u8ee2\u5ea7\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\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\u3054\u4e21\u89aa\u306b\u306f\u75c7\u72b6\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u304a\u5b50\u3055\u3093\u306b\u306f\u91cd\u8907\uff08\u3042\u308b\u3044\u306f\u6b20\u5931\uff09\u3068\u3057\u3066\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u78ba\u8a8d\u306f\u3001\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3068\u67d3\u8272\u4f53\u691c\u67fb\u306b\u3088\u3063\u3066\u884c\u308f\u308c\u307e\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>\u8a3a\u65ad\u306f\u3001\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u306e\u89b3\u5bdf\u3068\u3001\u7cbe\u5bc6\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E6%9F%93%E8%89%B2%E4%BD%93%E5%88%86%E6%9F%93%E6%B3%95%EF%BC%88G-%E3%83%90%E3%83%B3%E3%83%89%E6%B3%95%EF%BC%89\"><\/span><strong>\u2460 \u67d3\u8272\u4f53\u5206\u67d3\u6cd5\uff08G-\u30d0\u30f3\u30c9\u6cd5\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6a19\u6e96\u7684\u306a\u67d3\u8272\u4f53\u691c\u67fb\u3067\u3059\u3002\u9855\u5fae\u93e1\u3067\u67d3\u8272\u4f53\u306e\u6570\u3084\u5927\u307e\u304b\u306a\u5f62\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u91cd\u8907\u306e\u7bc4\u56f2\u304c\u5927\u304d\u3044\u5834\u5408\u306f\u3053\u306e\u691c\u67fb\u3067\u898b\u3064\u304b\u308a\u307e\u3059\u304c\u3001\u975e\u5e38\u306b\u5c0f\u3055\u306a\u300c\u5fae\u7d30\u91cd\u8907\u300d\u306f\u898b\u9003\u3055\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=\"%E2%91%A1_%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>\u2461 \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\u3001\u6700\u3082\u63a8\u5968\u3055\u308c\u308b\u9ad8\u7cbe\u5ea6\u306a\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5185\u5bb9\uff1a<\/strong> \u6570\u4e07\u304b\u3089\u6570\u5341\u4e07\u7b87\u6240\u306e\u907a\u4f1d\u5b50\u60c5\u5831\u3092\u4e00\u5ea6\u306b\u30b9\u30ad\u30e3\u30f3\u3057\u3001\u5fae\u7d30\u306a\u91cd\u8907\u3084\u6b20\u5931\u3092\u7279\u5b9a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5229\u70b9\uff1a<\/strong> \u300c\u4f55\u756a\u304b\u3089\u4f55\u756a\u307e\u3067\u306e\u5869\u57fa\u5bfe\u304c\u91cd\u8907\u3057\u3066\u3044\u308b\u304b\u300d\u3092\u6b63\u78ba\u306b\u6570\u5024\u5316\u3067\u304d\u308b\u305f\u3081\u3001\u91cd\u8907\u7bc4\u56f2\u306b\u542b\u307e\u308c\u308b\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\uff08<em>SHH<\/em> \u306a\u3069\uff09\u3092\u7279\u5b9a\u3057\u3001\u5c06\u6765\u306e\u75c7\u72b6\u306e\u4e88\u6e2c\u306b\u5f79\u7acb\u3066\u308b\u3053\u3068\u304c\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%A2_%E7%94%BB%E5%83%8F%E8%A8%BA%E6%96%AD\"><\/span><strong>\u2462 \u753b\u50cf\u8a3a\u65ad<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5408\u4f75\u75c7\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30ec\u30f3\u30c8\u30b2\u30f3\u30fbCT\uff1a<\/strong> \u624b\u8db3\u306e\u9aa8\u306e\u69cb\u9020\u3092\u8a73\u7d30\u306b\u628a\u63e1\u3057\u3001\u624b\u8853\u306e\u8a08\u753b\u3092\u7acb\u3066\u308b\u305f\u3081\u306b\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8133MRI\uff1a<\/strong> \u8133\u306e\u69cb\u9020\u306b\u7570\u5e38\u304c\u306a\u3044\u304b\u3001\u3066\u3093\u304b\u3093\u306e\u30ea\u30b9\u30af\u304c\u306a\u3044\u304b\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u30a8\u30b3\u30fc\uff1a<\/strong> \u5fc3\u81d3\u306e\u5f62\u306b\u7570\u5e38\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=\"480\" src=\"\/nipt\/wp-content\/uploads\/2025\/10\/32744813_s.webp\" alt=\"\u533b\u7642\" class=\"wp-image-118638\"\/><\/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%E3%81%8A%E5%AD%90%E3%81%95%E3%82%93%E3%81%AE%E5%8F%AF%E8%83%BD%E6%80%A7%E3%82%92%E6%94%AF%E3%81%88%E3%82%8B\"><\/span><strong>5. \u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u304a\u5b50\u3055\u3093\u306e\u53ef\u80fd\u6027\u3092\u652f\u3048\u308b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u67d3\u8272\u4f53\u306e\u91cd\u8907\u305d\u306e\u3082\u306e\u3092\u5143\u306b\u623b\u3059\u300c\u6839\u6cbb\u7684\u306a\u6cbb\u7642\u6cd5\u300d\u306f\u3001\u73fe\u5728\u306e\u533b\u5b66\u306b\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u300c\u73fe\u308c\u3066\u3044\u308b\u75c7\u72b6\u306b\u5bfe\u3057\u3066\u9069\u5207\u306a\u5bfe\u51e6\uff08\u5bfe\u75c7\u7642\u6cd5\uff09\u3092\u884c\u3046\u300d\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u5927\u304d\u304f\u9ad8\u3081\u3001\u81ea\u7acb\u3092\u652f\u63f4\u3059\u308b\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%90%84%E8%A8%BA%E7%99%82%E7%A7%91%E3%81%AB%E3%82%88%E3%82%8B%E5%8C%85%E6%8B%AC%E7%9A%84%E3%81%AA%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span><strong>\u5404\u8a3a\u7642\u79d1\u306b\u3088\u308b\u5305\u62ec\u7684\u306a\u30b5\u30dd\u30fc\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u6574\u5f62\u5916\u79d1\uff08\u624b\u8db3\u306e\u5916\u79d1\uff09\uff1a<\/strong> \u591a\u6307\u75c7\u3084\u5408\u6307\u75c7\u304c\u3042\u308b\u5834\u5408\u3001\u6a5f\u80fd\u9762\uff08\u7269\u3092\u63b4\u3080\u3001\u6b69\u304f\uff09\u3068\u898b\u305f\u76ee\u306e\u4e21\u65b9\u3092\u8003\u616e\u3057\u3066\u3001\u624b\u8853\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u591a\u304f\u306e\u5834\u5408\u30011\u6b73\u524d\u5f8c\u304b\u3089\u5c31\u5b66\u524d\u307e\u3067\u306e\u9593\u306b\u8a08\u753b\u7684\u306b\u5b9f\u65bd\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u5150\u79d1\u30fb\u5c0f\u5150\u795e\u7d4c\u79d1\uff1a<\/strong> \u5168\u4f53\u7684\u306a\u767a\u9054\u306e\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u3001\u6210\u9577\u306e\u7ba1\u7406\u3001\u305d\u3057\u3066\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u3066\u3093\u304b\u3093\u306e\u85ac\u7269\u7642\u6cd5\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u79d1\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\uff1a<\/strong> \u30cf\u30a4\u30cf\u30a4\u3084\u6b69\u884c\u306a\u3069\u306e\u7c97\u5927\u904b\u52d5\u3092\u52a9\u3051\u3001\u7b4b\u529b\u3092\u9ad8\u3081\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\uff1a<\/strong> \u624b\u5148\u3092\u5668\u7528\u306b\u3059\u308b\u8a13\u7df4\u3084\u3001\u65e5\u5e38\u751f\u6d3b\uff08\u98df\u4e8b\u3084\u7740\u66ff\u3048\uff09\u306e\u5de5\u592b\u3092\u5b66\u3073\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a<\/strong> \u8a00\u8449\u306e\u767a\u9054\u3092\u4fc3\u3057\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\uff08\u7d75\u30ab\u30fc\u30c9\u306e\u6d3b\u7528\u306a\u3069\uff09\u3092\u5e83\u3052\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7642\u80b2\uff08\u767a\u9054\u652f\u63f4\uff09\uff1a<\/strong> \u65e9\u671f\u304b\u3089\u300c\u7642\u80b2\u30bb\u30f3\u30bf\u30fc\u300d\u306a\u3069\u306b\u901a\u3046\u3053\u3068\u3067\u3001\u96c6\u56e3\u751f\u6d3b\u3078\u306e\u9069\u5fdc\u529b\u3092\u990a\u3044\u3001\u304a\u5b50\u3055\u3093\u306e\u5f97\u610f\u306a\u3053\u3068\u3092\u4f38\u3070\u3059\u652f\u63f4\u3092\u53d7\u3051\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AD%A6%E6%A0%A1%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E9%85%8D%E6%85%AE\"><\/span><strong>\u5b66\u6821\u751f\u6d3b\u3067\u306e\u914d\u616e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5b66\u7ae5\u671f\u4ee5\u964d\u306f\u3001\u304a\u5b50\u3055\u3093\u306e\u77e5\u7684\u30ec\u30d9\u30eb\u3084\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u5b66\u7fd2\u74b0\u5883\uff08\u7279\u5225\u652f\u63f4\u5b66\u6821\u3001\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u3001\u901a\u7d1a\u6307\u5c0e\u6559\u5ba4\u306a\u3069\uff09\u306e\u9078\u629e\u304c\u91cd\u8981\u306b\u306a\u308a\u307e\u3059\u3002\u60c5\u5831\u306e\u8996\u899a\u5316\u3084\u3001\u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\u3092\u8003\u616e\u3057\u305f\u5b66\u7fd2\u30c4\u30fc\u30eb\u306e\u6d3b\u7528\uff08\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u306a\u3069\uff09\u304c\u975e\u5e38\u306b\u6709\u52b9\u3067\u3059\u3002<\/p>\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%EF%BC%9A%E7%9F%A5%E3%81%A3%E3%81%A6%E3%81%8A%E3%81%8D%E3%81%9F%E3%81%84%E3%83%9D%E3%82%A4%E3%83%B3%E3%83%88\"><\/span><strong>6. \u307e\u3068\u3081\uff1a\u77e5\u3063\u3066\u304a\u304d\u305f\u3044\u30dd\u30a4\u30f3\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u500b\u5225\u6027\u304c\u5f37\u3044\uff1a<\/strong> 7q36.3\u91cd\u8907\u3068\u3044\u3046\u540d\u524d\u306f\u5171\u901a\u3067\u3082\u3001\u75c7\u72b6\u306e\u51fa\u65b9\u306f\u4e00\u4eba\u3072\u3068\u308a\u9055\u3044\u307e\u3059\u3002\u300c\u3053\u306e\u5b50\u306e\u30da\u30fc\u30b9\u300d\u3092\u5927\u5207\u306b\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n\n\n\n<li><strong>\u6307\u306e\u75c7\u72b6\u306f\u5bfe\u5fdc\u53ef\u80fd\uff1a<\/strong> \u591a\u6307\u75c7\u306a\u3069\u306e\u9aa8\u683c\u7684\u306a\u7279\u5fb4\u306f\u3001\u73fe\u4ee3\u306e\u6574\u5f62\u5916\u79d1\u6280\u8853\u3067\u6a5f\u80fd\u7684\u306b\u6539\u5584\u3067\u304d\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u9054\u306f\u300c\u3086\u3063\u304f\u308a\u300d\u9032\u3080\uff1a<\/strong> \u6b62\u307e\u308b\u306e\u3067\u306f\u306a\u304f\u3001\u3086\u3063\u304f\u308a\u3068\u9032\u307f\u307e\u3059\u3002\u65e9\u671f\u306e\u7642\u80b2\u4ecb\u5165\u304c\u3001\u5c06\u6765\u306e\u53ef\u80fd\u6027\u3092\u5927\u304d\u304f\u5e83\u3052\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u539f\u56e0\u306f\u3054\u5bb6\u65cf\u306e\u305b\u3044\u3067\u306f\u306a\u3044\uff1a<\/strong> \u307b\u3068\u3093\u3069\u304c\u5076\u7136\u306e\u300c\u30b3\u30d4\u30fc\u30df\u30b9\u300d\u3067\u3042\u308a\u3001\u81ea\u5206\u3092\u8cac\u3081\u308b\u5fc5\u8981\u306f\u4e00\u5207\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u5c02\u9580\u5bb6\u30c1\u30fc\u30e0\u3092\u4f5c\u308d\u3046\uff1a<\/strong> \u533b\u5e2b\u3001\u7642\u6cd5\u58eb\u3001\u6559\u5e2b\u3001\u5730\u57df\u306e\u652f\u63f4\u54e1\u306a\u3069\u3001\u4fe1\u983c\u3067\u304d\u308b\u300c\u30c1\u30fc\u30e0\u300d\u3068\u4e00\u7dd2\u306b\u6b69\u3093\u3067\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\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>\u8a3a\u65ad\u540d\u3092\u805e\u304b\u3055\u308c\u305f\u3068\u304d\u3001\u76ee\u306e\u524d\u304c\u771f\u3063\u767d\u306b\u306a\u308a\u3001\u5c06\u6765\u3078\u306e\u7d76\u671b\u611f\u306b\u8972\u308f\u308c\u308b\u3053\u3068\u306f\u6c7a\u3057\u3066\u73cd\u3057\u3044\u3053\u3068\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308b\u304c\u3086\u3048\u306b\u3001\u76f8\u8ac7\u3067\u304d\u308b\u76f8\u624b\u304c\u8fd1\u304f\u306b\u304a\u3089\u305a\u3001\u5b64\u72ec\u3092\u611f\u3058\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3069\u3046\u304b\u77e5\u3063\u3066\u304a\u3044\u3066\u304f\u3060\u3055\u3044\u3002\u304a\u5b50\u3055\u3093\u306f\u3001\u67d3\u8272\u4f53\u306e\u756a\u53f7\u3060\u3051\u3067\u6c7a\u307e\u308b\u5b58\u5728\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>7q36.3\u91cd\u8907\u3092\u6301\u3064\u304a\u5b50\u3055\u3093\u305f\u3061\u3082\u3001\u597d\u304d\u306a\u98df\u3079\u7269\u304c\u3042\u308a\u3001\u697d\u3057\u3044\u3053\u3068\u3067\u7b11\u3044\u3001\u5bb6\u65cf\u306e\u6e29\u3082\u308a\u3092\u559c\u3076\u3001\u8c4a\u304b\u306a\u5fc3\u3092\u6301\u3063\u305f\u4e00\u4eba\u306e\u4eba\u9593\u3067\u3059\u3002\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u306a\u5206\u3001\u304a\u5b50\u3055\u3093\u304c\u521d\u3081\u3066\u300c\u30d1\u30d1\u300d\u300c\u30de\u30de\u300d\u3068\u8a00\u3063\u3066\u304f\u308c\u305f\u3068\u304d\u3001\u521d\u3081\u3066\u81ea\u5206\u306e\u8db3\u3067\u4e00\u6b69\u3092\u8e0f\u307f\u51fa\u3057\u305f\u3068\u304d\u3001\u305d\u306e\u611f\u52d5\u306f\u4ed6\u306e\u8ab0\u3088\u308a\u3082\u6df1\u304f\u3001\u9bae\u3084\u304b\u306a\u3082\u306e\u306b\u306a\u308b\u306f\u305a\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u56fd\u5185\u306b\u540c\u3058\u8a3a\u65ad\u540d\u306e\u304a\u5b50\u3055\u3093\u306f\u5c11\u306a\u3044\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u8fd1\u5e74\u306fSNS\u306a\u3069\u3092\u901a\u3058\u3066\u3001\u4e16\u754c\u4e2d\u306e\u5bb6\u65cf\u3068\u7e4b\u304c\u308b\u3053\u3068\u304c\u53ef\u80fd\u306b\u306a\u3063\u3066\u3044\u307e\u3059\uff08\u4f8b\uff1a\u6d77\u5916\u306e\u60a3\u8005\u56e3\u4f53\u300cUnique &#8211; The Rare Chromosome Disorder Group\u300d\u306a\u3069\uff09\u3002\u82f1\u8a9e\u3067\u306e\u60c5\u5831\u4ea4\u63db\u3082\u7ffb\u8a33\u30c4\u30fc\u30eb\u3092\u4f7f\u3048\u3070\u5bb9\u6613\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306e\u305f\u3081\u306b\u4e00\u751f\u61f8\u547d\u306b\u306a\u308b\u3042\u307e\u308a\u3001\u3054\u5bb6\u65cf\u304c\u81ea\u5206\u81ea\u8eab\u306e\u4f11\u606f\u3084\u5065\u5eb7\u3092\u5f8c\u56de\u3057\u306b\u3057\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\u3059\u3002\u304a\u5b50\u3055\u3093\u306b\u3068\u3063\u3066\u6700\u5927\u306e\u5b89\u5fc3\u306f\u3001\u5927\u597d\u304d\u306a\u3054\u5bb6\u65cf\u304c\u7b11\u9854\u3067\u3001\u7a4f\u3084\u304b\u306b\u904e\u3054\u3057\u3066\u3044\u308b\u3053\u3068\u3067\u3059\u3002 \u300c\u4eca\u65e5\u306f\u3053\u308c\u304c\u3067\u304d\u305f\u300d\u3068\u30dd\u30b8\u30c6\u30a3\u30d6\u306a\u9762\u306b\u76ee\u3092\u5411\u3051\u3001\u75b2\u308c\u305f\u3068\u304d\u306f\u5468\u56f2\u3084\u516c\u7684\u30b5\u30fc\u30d3\u30b9\uff08\u30b7\u30e7\u30fc\u30c8\u30b9\u30c6\u30a4\u3084\u30d8\u30eb\u30d1\u30fc\u6d3e\u9063\u306a\u3069\uff09\u3092\u7a4d\u6975\u7684\u306b\u983c\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u3042\u306a\u305f\u306f\u4e00\u4eba\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u304a\u5b50\u3055\u3093\u3068\u5171\u306b\u6b69\u3080\u3053\u306e\u9053\u306e\u308a\u306b\u306f\u3001\u591a\u304f\u306e\u652f\u63f4\u8005\u3068\u3001\u307e\u3060\u898b\u306c\u559c\u3073\u304c\u5f85\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n","protected":false},"excerpt":{"rendered":"\u304a\u5b50\u3055\u3093\u3084\u3054\u5bb6\u65cf\u304c\u300c7q36.3\u91cd\u8907\u300d\u3068&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q36-3-duplication-syndrome-2\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":121563,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-121705","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\/121705","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=121705"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121705\/revisions"}],"predecessor-version":[{"id":121706,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121705\/revisions\/121706"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/121563"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121705"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=121705"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=121705"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}