{"id":121686,"date":"2026-01-07T16:05:19","date_gmt":"2026-01-07T07:05:19","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121686"},"modified":"2026-07-20T06:02:21","modified_gmt":"2026-07-19T21:02:21","slug":"chromosome-7q21-q32-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q21-q32-deletion-syndrome\/","title":{"rendered":"\u7b2c7\u67d3\u8272\u4f53\u9577\u8155\u6b20\u5931\uff087q21-q32\u6b20\u5931\u75c7\u5019\u7fa4\uff09"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p><strong>7q21-q32\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u30017\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\uff09\u306e21\u9818\u57df\u304b\u308932\u9818\u57df\u307e\u3067\u306e\u9593\u306e\u907a\u4f1d\u60c5\u5831\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u975e\u5e38\u306b\u7a00\u306a\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002<\/strong>\u5c02\u9580\u7684\u306b\u306f\u300c\u4e2d\u9593\u90e8\uff08intermediate\uff09\u6b20\u5931\u300d\u3068\u547c\u3070\u308c\u308b\u5206\u985e\u306b\u3042\u305f\u308a\u3001\u5931\u308f\u308c\u308b\u7bc4\u56f2\u306f\u60a3\u8005\u3054\u3068\u306b\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u624b\u8db3\u306e\u5f62\u614b\u7684\u7279\u5fb4\uff08\u88c2\u624b\u30fb\u88c2\u8db3\uff09\u3001\u96e3\u8074\u3001\u767a\u9054\u306e\u9045\u308c\u3001\u8a00\u8a9e\u969c\u5bb3\u3001\u5fc3\u81d3\u3084\u53e3\u84cb\u306e\u7570\u5e38\u306a\u3069\u591a\u5c90\u306b\u308f\u305f\u308b\u75c7\u72b6\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u3059\u3079\u3066\u304c\u540c\u6642\u306b\u73fe\u308c\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u30027\u756a\u67d3\u8272\u4f53\u306e\u4ed6\u306e\u6b20\u5931\uff087q11.23\u6b20\u5931\u30847q31-q32\u6b20\u5931\u306a\u3069\uff09\u3068\u306f\u7bc4\u56f2\u3082\u75c7\u72b6\u306e\u50be\u5411\u3082\u7570\u306a\u308b\u3001\u533a\u5225\u304c\u5fc5\u8981\u306a\u75be\u60a3\u3067\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u306e\u57fa\u672c\u691c\u67fb\u30fb\u62e1\u5927\u691c\u67fb\uff08116\u7a2e\uff09\u306e\u3044\u305a\u308c\u306b\u3082\u5bfe\u8c61\u75be\u60a3\u3068\u3057\u3066\u542b\u307e\u308c\u3066\u304a\u3089\u305a\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u51fa\u751f\u524d\u5f8c\u306e\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\uff08CMA\uff09\u304c\u5fc5\u8981\u3067\u3059\u3002\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u65e9\u671f\u7642\u80b2\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u767a\u9054\u3092\u652f\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p><\/div>\n\n\n\n<div style=\"border:1px solid #e8608a;border-radius:8px;background:#fff5f8;padding:4% 5%;margin:1rem 0 2.5rem;\">\n<p style=\"font-weight:bold;font-size:1.05em;margin-top:0;\">\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin-bottom:0;\">\n<li>7q21-q32\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b\u3001\u306a\u305c\u75c7\u72b6\u306b\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u306e\u304b<\/li>\n<li>\u624b\u8db3\u30fb\u9854\u7acb\u3061\u30fb\u8074\u529b\u30fb\u8a00\u8a9e\u767a\u9054\u306a\u3069\u3001\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4e3b\u306a\u75c7\u72b6\u306e\u5168\u4f53\u50cf<\/li>\n<li>NIPT\u3067\u308f\u304b\u308b\u306e\u304b\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3069\u306e\u691c\u67fb\u304c\u5fc5\u8981\u304b<\/li>\n<li>7q11.23\u6b20\u5931\u30fb7q31-q32\u6b20\u5931\u30fb7q21.3-q31.1\u91cd\u8907\u306a\u3069\u3001\u4f3c\u305f\u540d\u524d\u306e\u75be\u60a3\u3068\u306e\u9055\u3044<\/li>\n<li>\u6cbb\u7642\u306e\u9078\u629e\u80a2\u3068\u3001\u3054\u5bb6\u65cf\u304c\u4f7f\u3048\u308b\u76f8\u8ac7\u7a93\u53e3<\/li>\n<\/ul>\n<\/div>\n\n\n\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u3084\u3054\u5bb6\u65cf\u304c\u300c7q21-q32\u6b20\u5931\u300d\u3068\u3044\u3046\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3068\u304d\u3001\u305d\u306e\u60c5\u5831\u306e\u5c11\u306a\u3055\u306b\u6238\u60d1\u3044\u3001\u5c06\u6765\u3078\u306e\u4e0d\u5b89\u3092\u62b1\u304b\u308c\u308b\u306e\u306f\u5f53\u7136\u306e\u3053\u3068\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u975e\u5e38\u306b\u7a00\u306a\u67d3\u8272\u4f53\u69cb\u9020\u7570\u5e38\u3067\u3042\u308a\u3001\u533b\u5b66\u7684\u306b\u3082\u4e00\u4eba\u3072\u3068\u308a\u306e\u75c7\u72b6\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u306f\u3001\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3070\u304b\u308a\u306e\u3054\u5bb6\u65cf\u304c\u75be\u60a3\u306e\u5168\u4f53\u50cf\u3092\u6b63\u3057\u304f\u7406\u89e3\u3057\u3001\u3053\u308c\u304b\u3089\u306e\u30b5\u30dd\u30fc\u30c8\u3084\u7642\u80b2\u306b\u5f79\u7acb\u3066\u308b\u305f\u3081\u306e\u9053\u6a19\u3068\u306a\u308b\u3088\u3046\u4f5c\u6210\u3057\u307e\u3057\u305f\u3002\u5c02\u9580\u7528\u8a9e\u3092\u3067\u304d\u308b\u3060\u3051\u5e73\u6613\u306a\u8a00\u8449\u306b\u7f6e\u304d\u63db\u3048\u3001\u516c\u7684\u6a5f\u95a2\u3084\u5b66\u8853\u8ad6\u6587\u306e\u60c5\u5831\u306b\u3082\u3068\u3065\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div 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\u624b\u8db3\u306e\u5f62\u614b\u7684\u7279\u5fb4\uff08\u88c2\u624b\u30fb\u88c2\u8db3\u75c7\u306a\u3069\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q21-q32-deletion-syndrome\/#%E2%91%A1_%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\" >\u2461 \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-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q21-q32-deletion-syndrome\/#%E2%91%A2_%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%99%BA%E9%81%94\" >\u2462 \u767a\u9054\u306e\u9045\u308c\u3068\u77e5\u7684\u767a\u9054<\/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\/chromosome-7q21-q32-deletion-syndrome\/#%E2%91%A3_%E8%A8%80%E8%AA%9E%E7%99%BA%E9%81%94%E3%81%B8%E3%81%AE%E5%BD%B1%E9%9F%BF%EF%BC%88FOXP2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%81%AE%E9%96%A2%E9%80%A3%EF%BC%89\" >\u2463 \u8a00\u8a9e\u767a\u9054\u3078\u306e\u5f71\u97ff\uff08FOXP2\u907a\u4f1d\u5b50\u3068\u306e\u95a2\u9023\uff09<\/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\/chromosome-7q21-q32-deletion-syndrome\/#%E2%91%A4_%E6%84%9F%E8%A6%9A%E5%99%A8%E3%81%AE%E7%95%B0%E5%B8%B8%EF%BC%88%E9%9B%A3%E8%81%B4%E3%83%BB%E8%A6%96%E8%A6%9A%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87%EF%BC%89\" >\u2464 \u611f\u899a\u5668\u306e\u7570\u5e38\uff08\u96e3\u8074\u30fb\u8996\u899a\u306e\u5408\u4f75\u75c7\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q21-q32-deletion-syndrome\/#%E2%91%A5_%E6%88%90%E9%95%B7%E3%83%BB%E6%A0%84%E9%A4%8A%E3%83%BB%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\" >\u2465 \u6210\u9577\u30fb\u6804\u990a\u30fb\u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q21-q32-deletion-syndrome\/#3_%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%81%AA%E3%81%9C%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E6%AC%A0%E5%A4%B1%E3%81%8C%E8%B5%B7%E3%81%93%E3%82%8B%E3%81%AE%E3%81%8B\" >3. \u539f\u56e0\uff1a\u306a\u305c\u67d3\u8272\u4f53\u306e\u6b20\u5931\u304c\u8d77\u3053\u308b\u306e\u304b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q21-q32-deletion-syndrome\/#%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-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q21-q32-deletion-syndrome\/#%E5%9D%87%E8%A1%A1%E5%9E%8B%E8%BB%A2%E5%BA%A7%E3%81%AE%E4%BF%9D%E6%8C%81%EF%BC%88%E7%A8%80%E3%81%AA%E3%82%B1%E3%83%BC%E3%82%B9%EF%BC%89\" >\u5747\u8861\u578b\u8ee2\u5ea7\u306e\u4fdd\u6301\uff08\u7a00\u306a\u30b1\u30fc\u30b9\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\/chromosome-7q21-q32-deletion-syndrome\/#4_%E8%A8%BA%E6%96%AD%E3%81%A8NIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8\" >4. \u8a3a\u65ad\u3068NIPT\u3067\u308f\u304b\u308b\u3053\u3068<\/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\/chromosome-7q21-q32-deletion-syndrome\/#%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\/chromosome-7q21-q32-deletion-syndrome\/#%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\/chromosome-7q21-q32-deletion-syndrome\/#%E2%91%A2_%E7%94%BB%E5%83%8F%E8%A8%BA%E6%96%AD%E3%81%A8%E8%87%A8%E5%BA%8A%E8%A9%95%E4%BE%A1\" >\u2462 \u753b\u50cf\u8a3a\u65ad\u3068\u81e8\u5e8a\u8a55\u4fa1<\/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\/chromosome-7q21-q32-deletion-syndrome\/#5_%E4%BC%BC%E3%81%9F%E5%90%8D%E5%89%8D%E3%81%AE%E7%96%BE%E6%82%A3%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\" >5. \u4f3c\u305f\u540d\u524d\u306e\u75be\u60a3\u3068\u306e\u9055\u3044<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q21-q32-deletion-syndrome\/#6_%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%9C%80%E5%A4%A7%E9%99%90%E3%81%AB%E5%BC%95%E3%81%8D%E5%87%BA%E3%81%99%E3%81%9F%E3%82%81%E3%81%AB\" >6. \u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u304a\u5b50\u3055\u3093\u306e\u53ef\u80fd\u6027\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\u305f\u3081\u306b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q21-q32-deletion-syndrome\/#%E5%A4%9A%E8%81%B7%E7%A8%AE%E9%80%A3%E6%90%BA%E3%81%AB%E3%82%88%E3%82%8B%E5%8C%85%E6%8B%AC%E7%9A%84%E3%82%B1%E3%82%A2\" >\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5305\u62ec\u7684\u30b1\u30a2<\/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\/chromosome-7q21-q32-deletion-syndrome\/#%E7%99%82%E8%82%B2%EF%BC%88%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%EF%BC%89%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\" >\u7642\u80b2\uff08\u767a\u9054\u652f\u63f4\uff09\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-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q21-q32-deletion-syndrome\/#7_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%AE%E5%BF%83%E7%90%86%E7%9A%84%E3%83%BB%E7%B5%8C%E6%B8%88%E7%9A%84%E8%B2%A0%E6%8B%85%E3%81%A8%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >7. \u3054\u5bb6\u65cf\u306e\u5fc3\u7406\u7684\u30fb\u7d4c\u6e08\u7684\u8ca0\u62c5\u3068\u30b5\u30dd\u30fc\u30c8<\/a><\/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\/chromosome-7q21-q32-deletion-syndrome\/#8_%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\" >8. \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-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q21-q32-deletion-syndrome\/#9_%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\" >9. \u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q21-q32-deletion-syndrome\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\" >\u3088\u304f\u3042\u308b\u8cea\u554f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q21-q32-deletion-syndrome\/#Q_7q21-q32%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AFNIPT%E3%81%A7%E5%88%86%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. 7q21-q32\u6b20\u5931\u75c7\u5019\u7fa4\u306fNIPT\u3067\u5206\u304b\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q21-q32-deletion-syndrome\/#Q_7q31-q32%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. 7q31-q32\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q21-q32-deletion-syndrome\/#Q_7q213-q311%E9%87%8D%E8%A4%87%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E9%81%95%E3%81%86%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. 7q21.3-q31.1\u91cd\u8907\u75c7\u5019\u7fa4\u3068\u306f\u9055\u3046\u306e\u3067\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q21-q32-deletion-syndrome\/#Q_%E8%A8%BA%E6%96%AD%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AB%E7%A2%BA%E5%AE%9A%E3%81%99%E3%82%8B%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u8a3a\u65ad\u306f\u3069\u306e\u3088\u3046\u306b\u78ba\u5b9a\u3059\u308b\u306e\u3067\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-31\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q21-q32-deletion-syndrome\/#Q_%E8%A6%AA%E3%81%AE%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%8C%E5%8E%9F%E5%9B%A0%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u89aa\u306e\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u304c\u539f\u56e0\u3067\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-32\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q21-q32-deletion-syndrome\/#Q_%E6%8C%87%E5%AE%9A%E9%9B%A3%E7%97%85%E3%81%AB%E8%AA%8D%E5%AE%9A%E3%81%95%E3%82%8C%E3%81%A6%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u6307\u5b9a\u96e3\u75c5\u306b\u8a8d\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u304b\uff1f<\/a><\/li><\/ul><\/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%9A7q21-q32%E6%AC%A0%E5%A4%B1%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\uff1a7q21-q32\u6b20\u5931\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<p><strong>7q21-q32\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u30017\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\uff09\u306e21\u9818\u57df\u304b\u308932\u9818\u57df\u307e\u3067\u306e\u9593\u306e\u907a\u4f1d\u60c5\u5831\u304c\u5931\u308f\u308c\u3066\u3044\u308b\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002<\/strong>\u307e\u305a\u306f\u67d3\u8272\u4f53\u3068\u300c\u6b20\u5931\u300d\u306e\u57fa\u790e\u77e5\u8b58\u304b\u3089\u78ba\u8a8d\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\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%E6%AC%A0%E5%A4%B1%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\u6b20\u5931\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\u306e\u7d30\u80de\u6838\u306b\u306f\u3001\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u907a\u4f1d\u5b50\u304c\u683c\u7d0d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u3092\u675f\u306d\u308b\u69cb\u9020\u4f53\u304c\u67d3\u8272\u4f53\u3067\u3059\u3002\u4eba\u9593\u306b\u306f23\u5bfe\uff08\u8a0846\u672c\uff09\u306e\u67d3\u8272\u4f53\u304c\u3042\u308a\u30011\u756a\u304b\u308922\u756a\u307e\u3067\u306e\u5e38\u67d3\u8272\u4f53\u3068\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u3092\u6c7a\u3081\u308b\u6027\u67d3\u8272\u4f53\uff08X\u3068Y\uff09\u304c\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5404\u67d3\u8272\u4f53\u306f\u4e2d\u5fc3\u306e\u304f\u3073\u308c\uff08\u4e2d\u5fc3\u7bc0\uff09\u3092\u5883\u306b\u3001\u77ed\u3044\u65b9\u3092\u300c\u77ed\u8155\uff08p\uff09\u300d\u3001\u9577\u3044\u65b9\u3092\u300c\u9577\u8155\uff08q\uff09\u300d\u3068\u547c\u3073\u307e\u3059\u30027q21-q32\u6b20\u5931\u306f\u30017\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306e\u3046\u3061\u300121\u3068\u3044\u3046\u5730\u70b9\u304b\u308932\u3068\u3044\u3046\u5730\u70b9\u307e\u3067\u306e\u9593\u306e\u907a\u4f1d\u60c5\u5831\u304c\u5931\u308f\u308c\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%80%8C%E4%B8%AD%E9%96%93%E9%83%A8%E6%AC%A0%E5%A4%B1%E3%80%8D%E3%81%A8%E3%81%84%E3%81%86%E5%88%86%E9%A1%9E%E3%81%A8%E3%80%81%E7%97%87%E7%8A%B6%E3%81%AB%E5%B9%85%E3%81%8C%E3%81%82%E3%82%8B%E7%90%86%E7%94%B1\"><\/span><strong>\u300c\u4e2d\u9593\u90e8\u6b20\u5931\u300d\u3068\u3044\u3046\u5206\u985e\u3068\u3001\u75c7\u72b6\u306b\u5e45\u304c\u3042\u308b\u7406\u7531<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>7q\u6b20\u5931\u306f\u3001\u5931\u308f\u308c\u308b\u7bc4\u56f2\u306b\u3088\u3063\u3066\u300c\u8fd1\u4f4d\uff087q11\u219221\uff09\u300d\u300c\u4e2d\u9593\u90e8\uff087q21\u219232\uff09\u300d\u300c\u9060\u4f4d\u30fb\u672b\u7aef\u90e8\uff087q32\u2192qter\uff09\u300d\u306e3\u3064\u306b\u5927\u307e\u304b\u306b\u5206\u985e\u3055\u308c\u30017q21-q32\u6b20\u5931\u306f\u3053\u306e\u3046\u3061\u306e\u4e2d\u9593\u90e8\u6b20\u5931\u306b\u3042\u305f\u308a\u307e\u3059\u3002<\/strong>\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u624b\u8db3\u306e\u5f62\u6210\u3084\u8074\u899a\u3001\u8a00\u8a9e\u767a\u9054\u306b\u95a2\u308f\u308b\u8907\u6570\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u3053\u3067\u62bc\u3055\u3048\u3066\u304a\u304d\u305f\u3044\u306e\u306f\u30017q21-q32\u6b20\u5931\u306f\u5358\u4e00\u306e\u75c7\u72b6\u30d1\u30bf\u30fc\u30f3\u3092\u6301\u3064\u75c5\u6c17\u3067\u306f\u306a\u3044\u3068\u3044\u3046\u70b9\u3067\u3059\u3002\u6d77\u5916\u306e\u5e0c\u5c11\u67d3\u8272\u4f53\u75be\u60a3\u652f\u63f4\u56e3\u4f53Unique\uff08rarechromo.org\uff09\u3084\u5b66\u8853\u8ad6\u6587\u306e\u30ec\u30d3\u30e5\u30fc\u3067\u3082\u30017\u756a\u67d3\u8272\u4f53\u306e\u4e2d\u9593\u90e8\u30fb\u9593\u8cea\u6027\u6b20\u5931\u306f\u300c\u3053\u308c\u307e\u3067\u306b\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u3054\u3068\u306b\u6b20\u5931\u306e\u5927\u304d\u3055\u3084\u5207\u65ad\u70b9\u304c\u7570\u306a\u308a\u3001\u5358\u4e00\u306e\u75c7\u5019\u7fa4\u3068\u3057\u3066\u5b9a\u7fa9\u3059\u308b\u3053\u3068\u304c\u96e3\u3057\u3044\u300d\u3068\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u540c\u3058\u300c7q21-q32\u6b20\u5931\u300d\u3068\u3044\u3046\u8a3a\u65ad\u540d\u3067\u3082\u3001\u5b9f\u969b\u306b\u3069\u306e\u907a\u4f1d\u5b50\u304c\u5931\u308f\u308c\u3066\u3044\u308b\u304b\u306b\u3088\u3063\u3066\u3001\u73fe\u308c\u308b\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u306f\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u304c\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u611f\u3058\u308b\u306e\u306f\u3001\u3053\u306e\u300c\u5e45\u306e\u5e83\u3055\u300d\u3053\u305d\u304c\u3001\u3054\u5bb6\u65cf\u306e\u4e0d\u5b89\u3092\u5f37\u304f\u3057\u3066\u3057\u307e\u3046\u4e00\u56e0\u3060\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3057\u3066\u3082\u3001\u75c7\u4f8b\u3054\u3068\u306b\u3070\u3089\u3070\u3089\u306a\u60c5\u5831\u3057\u304b\u51fa\u3066\u3053\u305a\u3001\u6211\u304c\u5b50\u306e\u5c06\u6765\u50cf\u304c\u3064\u304b\u307f\u306b\u304f\u3044\u3068\u611f\u3058\u308b\u65b9\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B8%8C%E5%B0%91%E6%80%A7%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%AE%E7%8F%BE%E7%8A%B6\"><\/span><strong>\u5e0c\u5c11\u6027\u3068\u8a3a\u65ad\u306e\u73fe\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u4e16\u754c\u7684\u306b\u3082\u5831\u544a\u6570\u304c\u5c11\u306a\u304f\u3001\u75c7\u4f8b\u5831\u544a\u306e\u7a4d\u307f\u91cd\u306d\u306b\u3088\u3063\u3066\u7279\u5fb4\u304c\u307e\u3068\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u304b\u3064\u3066\u306f\u9855\u5fae\u93e1\u3067\u67d3\u8272\u4f53\u306e\u5f62\u3092\u78ba\u8a8d\u3059\u308b\u691c\u67fb\uff08G-\u30d0\u30f3\u30c9\u6cd5\uff09\u304c\u4e3b\u6d41\u3067\u3057\u305f\u304c\u3001\u8fd1\u5e74\u306f\u3088\u308a\u5fae\u7d30\u306a\u6b20\u5931\u3092\u767a\u898b\u3067\u304d\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb<\/a>\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u6b63\u78ba\u306a\u8a3a\u65ad\u3092\u53d7\u3051\u3089\u308c\u308b\u65b9\u304c\u5897\u3048\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/chromosome-7q-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">7\u756a\u67d3\u8272\u4f53\u9577\u8155\u6b20\u5931\u75c7\u5019\u7fa4\uff087q\u6b20\u5931\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">7q\u6b20\u5931\uff087\u756a\u67d3\u8272\u4f53\u9577\u8155\u6b20\u5931\u75c7\u5019\u7fa4\uff09\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u306e\u305f\u3081\u306e\u5305\u62ec\u30ac\u30a4\u30c9\u3067\u3059\u3002\u67d3\u8272\u4f53\u6b20\u5931\u306e\u4ed5\u7d44\u307f\u304b\u3089\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u624b\u8db3\u306e\u7279\u5fb4\u3001\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7...<\/div>\n      <\/div>\n    <\/a>\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><strong>7q21-q32\u6b20\u5931\u3067\u307f\u3089\u308c\u308b\u75c7\u72b6\u306f\u624b\u8db3\u306e\u5f62\u614b\u30fb\u9854\u7acb\u3061\u30fb\u8074\u529b\u30fb\u8a00\u8a9e\u767a\u9054\u30fb\u5168\u8eab\u306e\u5408\u4f75\u75c7\u307e\u3067\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u304c\u3001\u3059\u3079\u3066\u306e\u75c7\u72b6\u304c\u4e00\u4eba\u306b\u51fa\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u5931\u308f\u308c\u305f\u9818\u57df\u306b\u3069\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u306b\u3088\u3063\u3066\u3001\u75c7\u72b6\u306f\u4e00\u4eba\u3072\u3068\u308a\u9055\u3063\u3066\u304d\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%E8%A3%82%E6%89%8B%E3%83%BB%E8%A3%82%E8%B6%B3%E7%97%87%E3%81%AA%E3%81%A9%EF%BC%89\"><\/span><strong>\u2460 \u624b\u8db3\u306e\u5f62\u614b\u7684\u7279\u5fb4\uff08\u88c2\u624b\u30fb\u88c2\u8db3\u75c7\u306a\u3069\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9818\u57df\u5185\u306e7q21.3\u3068\u3044\u3046\u90e8\u5206\u306b\u306f\u3001\u624b\u8db3\u306e\u9aa8\u683c\u5f62\u6210\u306b\u95a2\u308f\u308b<strong>DLX5\u30fbDLX6\u3068\u3044\u3046\u907a\u4f1d\u5b50<\/strong>\u3084\u3001\u305d\u306e\u50cd\u304d\u3092\u8abf\u6574\u3059\u308bDYNC1I1\u3068\u3044\u3046\u907a\u4f1d\u5b50\u304c\u5b58\u5728\u3057\u307e\u3059\u3002\u3053\u306e\u90e8\u5206\u304c\u6b20\u5931\u306b\u542b\u307e\u308c\u308b\u3068\u3001\u624b\u8db3\u306b\u7279\u5fb4\u7684\u306a\u5f62\u614b\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u88c2\u624b\u30fb\u88c2\u8db3\u75c7\uff08SHFM1\uff09: \u624b\u3084\u8db3\u306e\u4e2d\u592e\u90e8\u5206\u306e\u9aa8\u304c\u6b20\u640d\u3057\u3001V\u5b57\u578b\u306b\u5206\u304b\u308c\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u306b\u306f\u300cSplit-Hand\/Foot Malformation type 1\u300d\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6307\u306e\u7652\u5408\u3084\u6b20\u640d: \u6307\u540c\u58eb\u304c\u304f\u3063\u3064\u3044\u3066\u3044\u305f\u308a\u3001\u6307\u306e\u6570\u304c\u5c11\u306a\u304b\u3063\u305f\u308a\u3001\u95a2\u7bc0\u304c\u786c\u3044\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u5b66\u8853\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9OMIM\u306b\u3088\u308b\u3068\u3001<strong>DLX5\u30fbDLX6\u306e\u7570\u5e38\u3092\u4f34\u3046\u88c2\u624b\u30fb\u88c2\u8db3\u75c7\u306e\u3046\u3061\u3001\u7d0435%\u3067\u96e3\u8074\u3092\u5408\u4f75\u3059\u308b<\/strong>\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u624b\u8db3\u306e\u7279\u5fb4\u3060\u3051\u3067\u306a\u304f\u3001\u8074\u529b\u306e\u78ba\u8a8d\u3082\u65e9\u3044\u6bb5\u968e\u3067\u884c\u3046\u3053\u3068\u304c\u671b\u307e\u3057\u3044\u7406\u7531\u304c\u3053\u3053\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%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>\u2461 \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\u306e\u6b20\u640d\u306b\u3088\u308a\u3001\u5171\u901a\u3057\u305f\u9854\u7acb\u3061\u306e\u7279\u5fb4\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5065\u5eb7\u4e0a\u306e\u554f\u984c\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8033\u306e\u4f4e\u4f4d\u30fb\u5909\u5f62: \u8033\u306e\u4f4d\u7f6e\u304c\u3084\u3084\u4f4e\u304b\u3063\u305f\u308a\u3001\u5f62\u304c\u901a\u5e38\u3068\u7570\u306a\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5c0f\u984e\u75c7: \u4e0b\u3042\u3054\u304c\u5c0f\u3055\u304f\u3001\u5f8c\u308d\u306b\u5f15\u3051\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u773c\u9593\u89e3\u96e2\u30fb\u9f3b\u306e\u5f62\u306e\u7279\u5fb4: \u4e21\u76ee\u306e\u9593\u9694\u304c\u3084\u3084\u96e2\u308c\u3066\u3044\u305f\u308a\u3001\u9f3b\u6881\u304c\u4f4e\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u6d77\u5916\u306e\u5e0c\u5c11\u67d3\u8272\u4f53\u75be\u60a3\u60c5\u5831\u3067\u3082\u3001\u5c0f\u982d\u75c7\uff08\u982d\u304c\u5c0f\u3055\u3081\u3067\u3042\u308b\u3053\u3068\uff09\u3092\u4f34\u3046\u30b1\u30fc\u30b9\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u9854\u7acb\u3061\u306e\u7279\u5fb4\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u3053\u308c\u3060\u3051\u3067\u8a3a\u65ad\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C%E3%81%A8%E7%9F%A5%E7%9A%84%E7%99%BA%E9%81%94\"><\/span><strong>\u2462 \u767a\u9054\u306e\u9045\u308c\u3068\u77e5\u7684\u767a\u9054<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u7cbe\u795e\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306f\u30017q21-q32\u6b20\u5931\u3067\u6700\u3082\u9ad8\u983b\u5ea6\u306b\u5831\u544a\u3055\u308c\u308b\u75c7\u72b6\u306e\u4e00\u3064\u3067\u3059\u3002<\/strong>\u9996\u306e\u5ea7\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u306a\u3069\u306e\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u9032\u3080\u50be\u5411\u304c\u3042\u308a\u3001\u7a0b\u5ea6\u306f\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u591a\u304f\u306e\u5834\u5408\u3067\u3001\u7279\u5225\u652f\u63f4\u6559\u80b2\u3092\u542b\u3080\u500b\u5225\u306e\u6559\u80b2\u7684\u652f\u63f4\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002\u975e\u8a00\u8a9e\u7684\u306a\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff08\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u306a\u3069\uff09\u3092\u512a\u5148\u7684\u306b\u6d3b\u7528\u3059\u308b\u304a\u5b50\u3055\u3093\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A3_%E8%A8%80%E8%AA%9E%E7%99%BA%E9%81%94%E3%81%B8%E3%81%AE%E5%BD%B1%E9%9F%BF%EF%BC%88FOXP2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%81%AE%E9%96%A2%E9%80%A3%EF%BC%89\"><\/span><strong>\u2463 \u8a00\u8a9e\u767a\u9054\u3078\u306e\u5f71\u97ff\uff08FOXP2\u907a\u4f1d\u5b50\u3068\u306e\u95a2\u9023\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u6b20\u5931\u306e\u7bc4\u56f2\u304c7q31\u4ed8\u8fd1\u307e\u3067\u5e83\u304c\u308b\u5834\u5408\u3001\u8a00\u8a9e\u306e\u7406\u89e3\u3084\u767a\u8a9e\u306b\u95a2\u308f\u308bFOXP2\u907a\u4f1d\u5b50\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u3001\u8457\u3057\u3044\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u304c\u52a0\u308f\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>FOXP2\u306f\u767a\u8a9e\u306b\u5fc5\u8981\u306a\u53e3\u3084\u820c\u306e\u52d5\u304d\u306e\u5354\u8abf\uff08\u767a\u8a9e\u5931\u884c\uff09\u3068\u95a2\u4fc2\u304c\u6df1\u3044\u907a\u4f1d\u5b50\u3068\u3057\u3066\u3001\u5b66\u8853\u7684\u306b\u3082\u5e83\u304f\u7814\u7a76\u3055\u308c\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>7q21-q32\u6b20\u5931\u306f\u7bc4\u56f2\u304c\u5e83\u3044\u305f\u3081\u3001DLX5\u30fbDLX6\u9818\u57df\u3068FOXP2\u9818\u57df\u306e\u4e21\u65b9\u304c\u5931\u308f\u308c\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308c\u3070\u3001\u3069\u3061\u3089\u304b\u4e00\u65b9\u306b\u3068\u3069\u307e\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002FOXP2\u306b\u7126\u70b9\u3092\u5f53\u3066\u305f\u75c7\u72b6\u306e\u8a73\u7d30\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q31-q32-deletion-syndrome\/\">7q31-q32\u6b20\u5931\u75c7\u5019\u7fa4\u3092\u89e3\u8aac\u3057\u305f\u8a18\u4e8b<\/a>\u3067\u8a73\u3057\u304f\u53d6\u308a\u4e0a\u3052\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A4_%E6%84%9F%E8%A6%9A%E5%99%A8%E3%81%AE%E7%95%B0%E5%B8%B8%EF%BC%88%E9%9B%A3%E8%81%B4%E3%83%BB%E8%A6%96%E8%A6%9A%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87%EF%BC%89\"><\/span><strong>\u2464 \u611f\u899a\u5668\u306e\u7570\u5e38\uff08\u96e3\u8074\u30fb\u8996\u899a\u306e\u5408\u4f75\u75c7\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>7q\u9818\u57df\u306e\u6b20\u5931\u3067\u306f\u3001\u8074\u899a\u3068\u8996\u899a\u306e\u4e21\u65b9\u306b\u95a2\u308f\u308b\u554f\u984c\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u611f\u97f3\u96e3\u8074\u30fb\u4f1d\u97f3\u96e3\u8074: \u907a\u4f1d\u7684\u306a\u8981\u56e0\u3084\u8033\u306e\u69cb\u9020\u7684\u306a\u672a\u767a\u9054\u306b\u3088\u308a\u3001\u97f3\u304c\u805e\u3053\u3048\u306b\u304f\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u65e9\u671f\u767a\u898b\u3068\u88dc\u8074\u5668\u30fb\u8a00\u8a9e\u652f\u63f4\u306e\u958b\u59cb\u304c\u671b\u307e\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7dd1\u5185\u969c\u306a\u3069\u306e\u773c\u79d1\u7684\u5408\u4f75\u75c7: \u8fd1\u3044\u7bc4\u56f2\uff087q21.3-q31.1\uff09\u306e\u6b20\u5931\u4f8b\u3067\u306f\u3001\u91cd\u5ea6\u306e\u7dd1\u5185\u969c\u3092\u542b\u3080\u773c\u306e\u5408\u4f75\u75c7\u304c\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u773c\u79d1\u7684\u306a\u5408\u4f75\u75c7\u306f\u3001\u3059\u3079\u3066\u306e7q21-q32\u6b20\u5931\u3067\u8d77\u3053\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u5831\u544a\u6570\u3082\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u8a73\u3057\u3044\u75c7\u4f8b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-31-1deletion\/\">de novo 7q21.3q31.1\u6b20\u5931\u306e\u8ad6\u6587\u89e3\u8aac\u8a18\u4e8b<\/a>\u3067\u7d39\u4ecb\u3057\u3066\u3044\u307e\u3059\u3002\u773c\u306e\u7570\u5e38\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u3001\u65e9\u3081\u306b\u773c\u79d1\u3067\u306e\u8a55\u4fa1\u3092\u53d7\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A5_%E6%88%90%E9%95%B7%E3%83%BB%E6%A0%84%E9%A4%8A%E3%83%BB%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\"><\/span><strong>\u2465 \u6210\u9577\u30fb\u6804\u990a\u30fb\u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u624b\u8db3\u30fb\u9854\u7acb\u3061\u30fb\u767a\u9054\u4ee5\u5916\u306b\u3082\u3001\u5168\u8eab\u306e\u3055\u307e\u3056\u307e\u306a\u5408\u4f75\u75c7\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4f4e\u51fa\u751f\u4f53\u91cd\u3084\u6210\u9577\u969c\u5bb3\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u3082\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5148\u5929\u6027\u5fc3\u75be\u60a3: \u5fc3\u81d3\u306e\u69cb\u9020\u7684\u306a\u7570\u5e38\u3092\u4f34\u3046\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u53e3\u84cb\u88c2\u30fb\u6b6f\u306e\u7570\u5e38: \u53e3\u84cb\u306e\u9589\u9396\u4e0d\u5168\u3084\u6b6f\u306e\u5f62\u6210\u7570\u5e38\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3066\u3093\u304b\u3093\u30fb\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b: \u8133\u306e\u96fb\u6c17\u4fe1\u53f7\u306e\u7570\u5e38\u306b\u3088\u308b\u3051\u3044\u308c\u3093\u767a\u4f5c\u3084\u3001\u59ff\u52e2\u3092\u4fdd\u3061\u306b\u304f\u3044\u72b6\u614b\u304c\u8d77\u3053\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6ccc\u5c3f\u751f\u6b96\u5668\u306e\u7570\u5e38: \u7537\u306e\u5b50\u306e\u5834\u5408\u3001\u505c\u7559\u7cbe\u5de3\uff08\u7cbe\u5de3\u304c\u9670\u56a2\u5185\u306b\u964d\u308a\u3066\u304d\u3066\u3044\u306a\u3044\u72b6\u614b\uff09\u306a\u3069\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3084\u53e3\u84cb\u88c2\u306e\u6709\u7121\u306f\u3001\u51fa\u751f\u5f8c\u306e\u5168\u8eab\u306e\u8a55\u4fa1\u3067\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002\u5408\u4f75\u75c7\u306e\u7d44\u307f\u5408\u308f\u305b\u6b21\u7b2c\u3067\u3001\u5fc5\u8981\u306a\u533b\u7642\u7ba1\u7406\u306e\u5185\u5bb9\u306f\u5927\u304d\u304f\u5909\u308f\u3063\u3066\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter\" style=\"margin:1.5rem auto;\">\n<svg role=\"img\" aria-label=\"7q21-q32\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4e3b\u306a\u75c7\u72b6\u3092\u624b\u8db3\u30fb\u8074\u899a\u8996\u899a\u30fb\u767a\u9054\u8a00\u8a9e\u30fb\u5168\u8eab\u5408\u4f75\u75c7\u306b\u5206\u3051\u3066\u793a\u3057\u305f\u56f3\" viewBox=\"0 0 720 300\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" style=\"max-width:720px;width:100%;height:auto;font-family:sans-serif;\">\n  <rect x=\"0\" y=\"0\" width=\"720\" height=\"300\" fill=\"#fff9fb\"\/>\n  <text x=\"360\" y=\"36\" text-anchor=\"middle\" font-size=\"19\" fill=\"#5a2b3a\">\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4e3b\u306a\u75c7\u72b6\uff08\u4f8b\uff09<\/text>\n  <rect x=\"40\" y=\"60\" width=\"200\" height=\"85\" rx=\"12\" fill=\"#f6b8cd\"\/>\n  <text x=\"140\" y=\"98\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">\u624b\u8db3\u306e\u7279\u5fb4<\/text>\n  <text x=\"140\" y=\"120\" text-anchor=\"middle\" font-size=\"13\" fill=\"#5a2b3a\">\u88c2\u624b\u30fb\u88c2\u8db3\uff08SHFM1\uff09<\/text>\n  <rect x=\"260\" y=\"60\" width=\"200\" height=\"85\" rx=\"12\" fill=\"#fbe1eb\"\/>\n  <text x=\"360\" y=\"98\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">\u8074\u899a\u30fb\u8996\u899a<\/text>\n  <text x=\"360\" y=\"120\" text-anchor=\"middle\" font-size=\"13\" fill=\"#5a2b3a\">\u96e3\u8074\u30fb\u7dd1\u5185\u969c\u306e\u5831\u544a<\/text>\n  <rect x=\"480\" y=\"60\" width=\"200\" height=\"85\" rx=\"12\" fill=\"#f6b8cd\"\/>\n  <text x=\"580\" y=\"98\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">\u767a\u9054\u30fb\u8a00\u8a9e<\/text>\n  <text x=\"580\" y=\"120\" text-anchor=\"middle\" font-size=\"13\" fill=\"#5a2b3a\">FOXP2\u95a2\u9023\u306e\u9045\u308c\u3082<\/text>\n  <rect x=\"40\" y=\"165\" width=\"200\" height=\"85\" rx=\"12\" fill=\"#fbe1eb\"\/>\n  <text x=\"140\" y=\"203\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">\u9854\u7acb\u3061\u306e\u7279\u5fb4<\/text>\n  <text x=\"140\" y=\"225\" text-anchor=\"middle\" font-size=\"13\" fill=\"#5a2b3a\">\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044<\/text>\n  <rect x=\"260\" y=\"165\" width=\"200\" height=\"85\" rx=\"12\" fill=\"#f6b8cd\"\/>\n  <text x=\"360\" y=\"203\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">\u5fc3\u81d3\u30fb\u53e3\u84cb<\/text>\n  <text x=\"360\" y=\"225\" text-anchor=\"middle\" font-size=\"13\" fill=\"#5a2b3a\">\u5148\u5929\u6027\u5fc3\u75be\u60a3\u30fb\u53e3\u84cb\u88c2<\/text>\n  <rect x=\"480\" y=\"165\" width=\"200\" height=\"85\" rx=\"12\" fill=\"#fbe1eb\"\/>\n  <text x=\"580\" y=\"203\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">\u305d\u306e\u4ed6<\/text>\n  <text x=\"580\" y=\"225\" text-anchor=\"middle\" font-size=\"13\" fill=\"#5a2b3a\">\u6210\u9577\u969c\u5bb3\u30fb\u3066\u3093\u304b\u3093\u306a\u3069<\/text>\n<\/svg>\n<figcaption>7q21-q32\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4e3b\u306a\u75c7\u72b6\u306e\u30a4\u30e1\u30fc\u30b8\uff08\u3059\u3079\u3066\u304c\u540c\u6642\u306b\u73fe\u308c\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\uff09<\/figcaption>\n<\/figure>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/1381925_s.webp\" alt=\"7q21-q32\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u5b50\u4f9b\u3068\u5bb6\u65cf\u304c\u5bc4\u308a\u6dfb\u3046\u30a4\u30e1\u30fc\u30b8\" class=\"wp-image-121568\"\/><\/figure><\/div>\n\n\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%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E6%AC%A0%E5%A4%B1%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\u67d3\u8272\u4f53\u306e\u6b20\u5931\u304c\u8d77\u3053\u308b\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>7q21-q32\u6b20\u5931\u306e\u307b\u3068\u3093\u3069\u306f\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u306b\u3082\u539f\u56e0\u304c\u306a\u3044\u5076\u767a\u7684\u306a\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09\u3067\u3059\u3002<\/strong>\u591a\u304f\u306e\u3054\u5bb6\u65cf\u304c\u300c\u598a\u5a20\u4e2d\u306e\u884c\u52d5\u304c\u60aa\u304b\u3063\u305f\u306e\u3067\u306f\u306a\u3044\u304b\u300d\u3068\u60a9\u307e\u308c\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>\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\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3092\u5c02\u9580\u7528\u8a9e\u3067de novo\uff08\u30c7\u30fb\u30ce\u30dc\uff09\u5909\u7570\u3068\u547c\u3073\u307e\u3059\u3002\u3054\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306b\u306f\u4f55\u306e\u554f\u984c\u3082\u306a\u304f\u3001\u8ab0\u306e\u8eab\u306b\u3082\u8d77\u3053\u308a\u3046\u308b\u81ea\u7136\u306e\u73fe\u8c61\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u306f\u3053\u308c\u307e\u3067\u3001\u300c\u81ea\u5206\u304c\u4f55\u304b\u60aa\u3044\u3053\u3068\u3092\u3057\u305f\u306e\u3067\u306f\u300d\u3068\u81ea\u5206\u3092\u8cac\u3081\u3066\u3057\u307e\u3046\u3054\u4e21\u89aa\u306b\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u4f55\u5ea6\u3082\u51fa\u4f1a\u3063\u3066\u304d\u307e\u3057\u305f\u3002\u3057\u304b\u3057\u3001\u6b21\u306b\u8aac\u660e\u3059\u308b\u5747\u8861\u578b\u8ee2\u5ea7\u306e\u4fdd\u6301\u8005\u3067\u3042\u308b\u5834\u5408\u3092\u9664\u304d\u3001\u751f\u6d3b\u7fd2\u6163\u304c\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%9D%87%E8%A1%A1%E5%9E%8B%E8%BB%A2%E5%BA%A7%E3%81%AE%E4%BF%9D%E6%8C%81%EF%BC%88%E7%A8%80%E3%81%AA%E3%82%B1%E3%83%BC%E3%82%B9%EF%BC%89\"><\/span><strong>\u5747\u8861\u578b\u8ee2\u5ea7\u306e\u4fdd\u6301\uff08\u7a00\u306a\u30b1\u30fc\u30b9\uff09<\/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\u3054\u672c\u4eba\u306f\u5065\u5eb7\u3067\u3059\u304c\u3001\u304a\u5b50\u3055\u3093\u306b\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3057\u305f\u72b6\u614b\u3067\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5747\u8861\u578b\u8ee2\u5ea7\u306e\u6709\u7121\u306f\u3001\u3054\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08\u8840\u6db2\u691c\u67fb\uff09\u3067\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002\u6b21\u306e\u304a\u5b50\u3055\u3093\u3092\u8003\u3048\u308b\u969b\u306b\u6c17\u306b\u306a\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u5c02\u9580\u5bb6\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E8%A8%BA%E6%96%AD%E3%81%A8NIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8\"><\/span><strong>4. \u8a3a\u65ad\u3068NIPT\u3067\u308f\u304b\u308b\u3053\u3068<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>7q21-q32\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\uff08CMA\uff09\u304c\u5fc5\u8981\u3067\u3001NIPT\u306e\u57fa\u672c\u691c\u67fb\u30fb\u62e1\u5927\u691c\u67fb\u306e\u3044\u305a\u308c\u3082\u3053\u306e\u75be\u60a3\u3092\u76f4\u63a5\u306e\u5bfe\u8c61\u3068\u3057\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u691c\u67fb\u3092\u691c\u8a0e\u3059\u308b\u969b\u306f\u3001\u3053\u306e\u4f4d\u7f6e\u3065\u3051\u306e\u9055\u3044\u3092\u6b63\u3057\u304f\u7406\u89e3\u3057\u3066\u304a\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%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\u8840\u6db2\u4e2d\u306e\u7d30\u80de\u3092\u57f9\u990a\u3057\u3001\u67d3\u8272\u4f53\u3092\u67d3\u3081\u3066\u9855\u5fae\u93e1\u3067\u89b3\u5bdf\u3057\u307e\u3059\u3002\u5927\u304d\u306a\u6b20\u5931\u3067\u3042\u308c\u3070\u3053\u306e\u65b9\u6cd5\u3067\u3082\u898b\u3064\u304b\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\u306e\u8a3a\u65ad\u306e\u4e3b\u6d41\u3067\u3059\u3002G-\u30d0\u30f3\u30c9\u6cd5\u3067\u306f\u898b\u3064\u3051\u3089\u308c\u306a\u3044\u5fae\u7d30\u306a\u6b20\u5931\u3092\u3001\u30c1\u30c3\u30d7\u3092\u4f7f\u3063\u3066\u7db2\u7f85\u7684\u306b\u8abf\u3079\u307e\u3059\u3002<strong>\u6b20\u5931\u306e\u6b63\u78ba\u306a\u7bc4\u56f2\u3092\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u3068\u3044\u3046\u5358\u4f4d\u3067\u8a73\u7d30\u306b\u7279\u5b9a\u3067\u304d\u3001\u4e88\u6e2c\u3055\u308c\u308b\u5408\u4f75\u75c7\u306e\u30ea\u30b9\u30af\u3092\u3088\u308a\u7d30\u304b\u304f\u628a\u63e1\u3067\u304d\u307e\u3059\u3002<\/strong><\/p>\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%E3%81%A8%E8%87%A8%E5%BA%8A%E8%A9%95%E4%BE%A1\"><\/span><strong>\u2462 \u753b\u50cf\u8a3a\u65ad\u3068\u81e8\u5e8a\u8a55\u4fa1<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u67d3\u8272\u4f53\u691c\u67fb\u306e\u7d50\u679c\u3092\u53d7\u3051\u3066\u3001\u5404\u81d3\u5668\u306e\u6a5f\u80fd\u3092\u8abf\u3079\u307e\u3059\u3002\u8133MRI\u30fb\u8179\u90e8\u30a8\u30b3\u30fc\u30fb\u30ec\u30f3\u30c8\u30b2\u30f3\u691c\u67fb\u30fb\u8074\u529b\u691c\u67fb\u30fb\u773c\u79d1\u691c\u67fb\u306a\u3069\u3092\u7d44\u307f\u5408\u308f\u305b\u3001\u5408\u4f75\u75c7\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3092\u4f8b\u306b\u3059\u308b\u3068\u30017q21-q32\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u304623\u7a2e\u306e\u57fa\u672c\u7684\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u75be\u60a3\u691c\u67fb\u306b\u3082\u3001\u5168\u30b2\u30ce\u30e0\u89e3\u6790\u306b\u3082\u3068\u3065\u304f116\u7a2e\u306e\u62e1\u5927\u691c\u67fb\u306b\u3082\u3001\u5bfe\u8c61\u75be\u60a3\u3068\u3057\u3066\u542b\u307e\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>7\u756a\u67d3\u8272\u4f53\u306b\u95a2\u3059\u308b\u5bfe\u8c61\u75be\u60a3\u306f7q36.3\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u307f\u3067\u3001\u7bc4\u56f2\u3082\u7a2e\u985e\uff08\u91cd\u8907\uff09\u3082\u7570\u306a\u308a\u307e\u3059\u3002NIPT\u3067\u9670\u6027\u3068\u3044\u3046\u7d50\u679c\u3067\u3042\u3063\u3066\u3082\u3001\u3053\u306e\u75be\u60a3\u306e\u53ef\u80fd\u6027\u3092\u5426\u5b9a\u3059\u308b\u3053\u3068\u306b\u306f\u306a\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u70b9\u306b\u3064\u3044\u3066\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/obgyn\/\">\u7523\u5a66\u4eba\u79d1<\/a>\u9818\u57df\u3067\u60c5\u5831\u767a\u4fe1\u3092\u884c\u3046\u5ba4\u6708\u6df3\u6c0f\uff08<a href=\"https:\/\/x.com\/junmurot\" target=\"_blank\" rel=\"noopener\">@junmurot<\/a>\uff09\u3082\u6307\u6458\u3057\u3066\u3044\u307e\u3059\u3002\u300c21\u30c8\u30ea\u30bd\u30df\u30fc\u306b\u5bfe\u3059\u308bNIPT\u306e\u6027\u80fd\u304c\u9ad8\u3044\u304b\u3089\u3068\u3044\u3063\u3066\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3084\u6027\u67d3\u8272\u4f53\u7570\u6570\u6027\u306b\u3064\u3044\u3066\u3082\u540c\u3058\u6027\u80fd\u304c\u3042\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u307e\u3057\u3066\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306f\u611f\u5ea6\u7279\u7570\u5ea6\u306a\u3069\u306f\u78ba\u7acb\u3057\u3066\u304a\u3089\u305a\u3001\u65e5\u5e38\u81e8\u5e8a\u5c0e\u5165\u306b\u306f\u5341\u5206\u306a\u691c\u8a0e\u3092\u9032\u3081\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u300d\u3002\u79c1\u3082\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u306b\u95a2\u308f\u308b\u691c\u67fb\u7d50\u679c\u306f\u3001\u6570\u306e\u7570\u5e38\uff0821\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\uff09\u306eNIPT\u3068\u540c\u3058\u611f\u899a\u3067\u53d7\u3051\u6b62\u3081\u306a\u3044\u65b9\u304c\u3088\u3044\u3068\u611f\u3058\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5b9f\u969b\u3001NIPT\u306e\u7d50\u679c\u3092\u5f85\u3064\u9593\u306e\u6c17\u6301\u3061\u3092\u3001\u3042\u308bSNS\u30e6\u30fc\u30b6\u30fc\u306f\u3053\u3046\u6295\u7a3f\u3057\u3066\u3044\u307e\u3059\u3002\u300cNIPT\u9670\u6027\u3060\u3063\u305f\u3002\u91cd\u8907\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3082\u306a\u3057\u300d\uff08<a href=\"https:\/\/x.com\/okupanxc4o\" target=\"_blank\" rel=\"noopener\">@okupanxc4o<\/a>\uff09\u3002\u7d50\u679c\u304c\u51fa\u308b\u307e\u3067\u306e\u7dca\u5f35\u611f\u304c\u4f1d\u308f\u3063\u3066\u304f\u308b\u6295\u7a3f\u3067\u3059\u304c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u306e\u691c\u67fb\u306f\u6570\u306e\u7570\u5e38\u306e\u691c\u67fb\u307b\u3069\u7cbe\u5ea6\u304c\u78ba\u7acb\u3057\u3066\u3044\u306a\u3044\u70b9\u306f\u3001\u7d50\u679c\u3092\u53d7\u3051\u53d6\u308b\u524d\u306b\u305c\u3072\u77e5\u3063\u3066\u304a\u3044\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E4%BC%BC%E3%81%9F%E5%90%8D%E5%89%8D%E3%81%AE%E7%96%BE%E6%82%A3%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\"><\/span><strong>5. \u4f3c\u305f\u540d\u524d\u306e\u75be\u60a3\u3068\u306e\u9055\u3044<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>7q21-q32\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u540c\u30587\u756a\u67d3\u8272\u4f53\u306b\u95a2\u308f\u308b\u4ed6\u306e\u75be\u60a3\u3068\u540d\u524d\u304c\u4f3c\u3066\u3044\u308b\u305f\u3081\u6df7\u540c\u3055\u308c\u3084\u3059\u304f\u3001\u691c\u67fb\u7d50\u679c\u3092\u78ba\u8a8d\u3059\u308b\u969b\u306f\u7bc4\u56f2\u3068\u5909\u5316\u306e\u7a2e\u985e\uff08\u6b20\u5931\u304b\u91cd\u8907\u304b\uff09\u3092\u4e00\u6587\u5b57\u305a\u3064\u7167\u3089\u3057\u5408\u308f\u305b\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u75c5\u540d<\/th><th>\u67d3\u8272\u4f53\u306e\u5909\u5316<\/th><th>\u7279\u5fb4<\/th><\/tr><\/thead><tbody><tr><td>7q21-q32\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u672c\u8a18\u4e8b\uff09<\/td><td>7\u756a\u67d3\u8272\u4f53\u9577\u8155q21-q32\u306e\u6b20\u5931<\/td><td>\u624b\u8db3\u306e\u5f62\u614b\u7570\u5e38\u30fb\u96e3\u8074\u30fb\u767a\u9054\u9045\u6ede\u306a\u3069\u5e45\u5e83\u3044\u75c7\u72b6\u3002\u7bc4\u56f2\u306b\u3088\u308aFOXP2\u9818\u57df\u3082\u542b\u3080<\/td><\/tr><tr><td>7q31-q32\u6b20\u5931\u75c7\u5019\u7fa4<\/td><td>7\u756a\u67d3\u8272\u4f53\u9577\u8155q31-q32\u306e\u6b20\u5931\uff08\u672c\u8a18\u4e8b\u306e\u7bc4\u56f2\u3088\u308a\u72ed\u3044\uff09<\/td><td>FOXP2\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u308b\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u304c\u4e2d\u5fc3<\/td><\/tr><tr><td>7q11.23\u6b20\u5931\u75c7\u5019\u7fa4<\/td><td>7\u756a\u67d3\u8272\u4f53\u9577\u8155q11.23\u306e\u6b20\u5931\uff08\u672c\u8a18\u4e8b\u3088\u308a\u8fd1\u4f4d\uff09<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/\">\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4<\/a>\u306b\u95a2\u9023\u3059\u308b\u9818\u57df\u3002\u5fc3\u8840\u7ba1\u7cfb\u306e\u7570\u5e38\u3084\u7279\u5fb4\u7684\u306a\u6027\u683c\u50be\u5411<\/td><\/tr><tr><td>7q21.3-q31.1\u91cd\u8907\u75c7\u5019\u7fa4<\/td><td>7\u756a\u67d3\u8272\u4f53\u9577\u8155q21.3-q31.1\u306e\u91cd\u8907<\/td><td>\u6b20\u5931\u3067\u306f\u306a\u304f\u91cd\u8907\uff08\u907a\u4f1d\u60c5\u5831\u304c\u904e\u5270\uff09\u3002\u75c7\u72b6\u306e\u50be\u5411\u304c\u7570\u306a\u308b\u5225\u306e\u75be\u60a3<\/td><\/tr><tr><td>7q\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u7dcf\u8ad6\uff09<\/td><td>7\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u6b20\u5931\u5168\u822c<\/td><td>\u6b20\u5931\u90e8\u4f4d\u3054\u3068\u306e\u7279\u5fb4\u3092\u6a2a\u65ad\u7684\u306b\u89e3\u8aac<\/td><\/tr><\/tbody><\/table><figcaption>7\u756a\u67d3\u8272\u4f53\u9577\u8155\u306b\u95a2\u308f\u308b\u4ee3\u8868\u7684\u306a\u67d3\u8272\u4f53\u75be\u60a3\u306e\u9055\u3044<\/figcaption><\/figure>\n\n\n\n<p>\u8a73\u3057\u3044\u9055\u3044\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q31-q32-deletion-syndrome\/\">7q31-q32\u6b20\u5931\u75c7\u5019\u7fa4\u3092\u89e3\u8aac\u3057\u305f\u8a18\u4e8b<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q11-23-deletion-distal-syndrome\/\">7q11.23\u6b20\u5931\u75c7\u5019\u7fa4\u3092\u89e3\u8aac\u3057\u305f\u8a18\u4e8b<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-q-31-1-duplication\/\">7q21.3-q31.1\u91cd\u8907\u75c7\u5019\u7fa4\u3092\u89e3\u8aac\u3057\u305f\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u5168\u4f53\u306e\u5206\u985e\u3092\u5148\u306b\u62bc\u3055\u3048\u305f\u3044\u65b9\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38\u306e\u7a2e\u985e\u4e00\u89a7<\/a>\u3082\u53c2\u8003\u306b\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/chromosome-7q31-q32-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u7b2c7\u67d3\u8272\u4f53\u9577\u815531-32\u6b20\u5931\u75c7\u5019\u7fa4\uff087q31-q32\u6b20\u5931\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u7b2c7\u67d3\u8272\u4f53\u9577\u815531-32\u6b20\u5931\u75c7\u5019\u7fa4\uff087q31-q32\u6b20\u5931\uff09\u306e\u57fa\u790e\u77e5\u8b58\u3001\u75c7\u72b6\u3001\u539f\u56e0\u3001\u8a3a\u65ad\u3001\u305d\u3057\u3066\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u30b5\u30dd\u30fc\u30c8\u306b\u3064\u3044\u3066\u3002\u5e0c\u5c11...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%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%9C%80%E5%A4%A7%E9%99%90%E3%81%AB%E5%BC%95%E3%81%8D%E5%87%BA%E3%81%99%E3%81%9F%E3%82%81%E3%81%AB\"><\/span><strong>6. \u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u304a\u5b50\u3055\u3093\u306e\u53ef\u80fd\u6027\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\u305f\u3081\u306b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u67d3\u8272\u4f53\u306e\u6b20\u5931\u305d\u306e\u3082\u306e\u3092\u5143\u306b\u623b\u3059\u6cbb\u7642\u306f\u73fe\u5728\u306e\u533b\u5b66\u3067\u306f\u4e0d\u53ef\u80fd\u3067\u3059\u304c\u3001\u73fe\u308c\u3066\u3044\u308b\u75c7\u72b6\u306b\u5bfe\u3057\u3066\u9069\u5207\u306a\u4ecb\u5165\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u5065\u3084\u304b\u306a\u6210\u9577\u3092\u652f\u3048\u3089\u308c\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A4%9A%E8%81%B7%E7%A8%AE%E9%80%A3%E6%90%BA%E3%81%AB%E3%82%88%E3%82%8B%E5%8C%85%E6%8B%AC%E7%9A%84%E3%82%B1%E3%82%A2\"><\/span><strong>\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5305\u62ec\u7684\u30b1\u30a2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>7q21-q32\u6b20\u5931\u306e\u304a\u5b50\u3055\u3093\u306e\u30b1\u30a2\u306b\u306f\u3001\u591a\u304f\u306e\u5c02\u9580\u5bb6\u306e\u30c1\u30fc\u30e0\u30ef\u30fc\u30af\u304c\u5fc5\u8981\u3067\u3059\u3002\u4ee3\u8868\u7684\u306a\u8a3a\u7642\u79d1\u3068\u5f79\u5272\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u5150\u79d1\uff08\u907a\u4f1d\u5916\u6765\uff09: \u5168\u4f53\u7684\u306a\u767a\u80b2\u306e\u7ba1\u7406\u3068\u3001\u5404\u8a3a\u7642\u79d1\u306e\u30b3\u30fc\u30c7\u30a3\u30cd\u30fc\u30c8\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6574\u5f62\u5916\u79d1: \u88c2\u624b\u30fb\u88c2\u8db3\u304c\u3042\u308b\u5834\u5408\u3001\u6a5f\u80fd\u7dad\u6301\u3084\u6539\u5584\u306e\u305f\u3081\u306e\u624b\u8853\u3084\u88c5\u5177\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8033\u9f3b\u54bd\u5589\u79d1\u30fb\u773c\u79d1: \u5b9a\u671f\u7684\u306a\u8074\u529b\u691c\u67fb\u3068\u773c\u79d1\u691c\u67fb\u3092\u884c\u3044\u3001\u96e3\u8074\u3084\u7dd1\u5185\u969c\u306e\u65e9\u671f\u767a\u898b\u30fb\u5bfe\u5fdc\u3092\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5faa\u74b0\u5668\u79d1: \u5148\u5929\u6027\u5fc3\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u3001\u5fc3\u81d3\u306e\u6a5f\u80fd\u3092\u5b9a\u671f\u7684\u306b\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u79d1\u3067\u306f\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3067\u30cf\u30a4\u30cf\u30a4\u3084\u6b69\u884c\u306a\u3069\u306e\u7c97\u5927\u904b\u52d5\u3092\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3067\u624b\u5148\u306e\u52d5\u304d\u3084\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u3092\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3067\u98f2\u307f\u8fbc\u307f\u306e\u7df4\u7fd2\u3084\u8a00\u8449\u306e\u767a\u9054\u30fb\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u652f\u63f4\u3057\u307e\u3059\u3002FOXP2\u95a2\u9023\u306e\u8a00\u8a9e\u969c\u5bb3\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\u306e\u512a\u5148\u5ea6\u304c\u7279\u306b\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%82%E8%82%B2%EF%BC%88%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%EF%BC%89%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\"><\/span><strong>\u7642\u80b2\uff08\u767a\u9054\u652f\u63f4\uff09\u306e\u91cd\u8981\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u306f\u3001\u304a\u5b50\u3055\u3093\u306e\u793e\u4f1a\u6027\u3084\u9069\u5fdc\u529b\u3092\u9ad8\u3081\u308b\u305f\u3081\u306b\u3068\u3066\u3082\u6709\u52b9\u3067\u3059\u3002\u5730\u57df\u306e\u5150\u7ae5\u767a\u9054\u652f\u63f4\u30bb\u30f3\u30bf\u30fc\u306a\u3069\u3092\u901a\u3058\u3066\u5c02\u9580\u7684\u306a\u652f\u63f4\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u300c\u3067\u304d\u308b\u3053\u3068\u300d\u3092\u4e00\u3064\u3072\u3068\u3064\u5897\u3084\u3057\u3066\u3044\u3051\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%AE%E5%BF%83%E7%90%86%E7%9A%84%E3%83%BB%E7%B5%8C%E6%B8%88%E7%9A%84%E8%B2%A0%E6%8B%85%E3%81%A8%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span><strong>7. \u3054\u5bb6\u65cf\u306e\u5fc3\u7406\u7684\u30fb\u7d4c\u6e08\u7684\u8ca0\u62c5\u3068\u30b5\u30dd\u30fc\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u9577\u671f\u7684\u306a\u7642\u80b2\u3084\u533b\u7642\u7ba1\u7406\u304c\u5fc5\u8981\u306a\u305f\u3081\u3001\u3054\u4e21\u89aa\u306b\u306f\u7d4c\u6e08\u7684\u306b\u3082\u5fc3\u7406\u7684\u306b\u3082\u8ca0\u62c5\u304c\u304b\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u5e0c\u5c11\u306a\u75c5\u6c17\u3060\u304b\u3089\u3053\u305d\u3001\u5b64\u7acb\u3057\u306a\u3044\u74b0\u5883\u3065\u304f\u308a\u304c\u652f\u3048\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u304c\u8a3a\u7642\u306e\u4e2d\u3067\u611f\u3058\u308b\u306e\u306f\u3001\u60c5\u5831\u304c\u5c11\u306a\u3044\u75c5\u6c17\u3060\u304b\u3089\u3053\u305d\u3001\u5bb6\u65cf\u304c\u5b64\u7acb\u3057\u306a\u3044\u3053\u3068\u304c\u4f55\u3088\u308a\u5927\u5207\u3060\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002\u540c\u3058\u7d4c\u9a13\u3092\u3057\u305f\u5bb6\u65cf\u3068\u3064\u306a\u304c\u308b\u3053\u3068\u3084\u3001\u516c\u7684\u306a\u76f8\u8ac7\u7a93\u53e3\u3092\u65e9\u3081\u306b\u77e5\u3063\u3066\u304a\u304f\u3053\u3068\u304c\u3001\u9577\u3044\u7642\u80b2\u751f\u6d3b\u3092\u652f\u3048\u308b\u529b\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u96e3\u75c5\u3084\u5e0c\u5c11\u306a\u75be\u60a3\u306e\u60c5\u5831\u3092\u8abf\u3079\u305f\u3044\u3068\u304d\u306f\u3001<a href=\"https:\/\/www.nanbyou.or.jp\/\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\u304c\u7a93\u53e3\u306e\u4e00\u3064\u3067\u3059\u3002\u767a\u9054\u652f\u63f4\u306b\u3064\u3044\u3066\u306f\u3001<a href=\"https:\/\/www.rehab.go.jp\/ddis\/\" target=\"_blank\" rel=\"noopener\">\u56fd\u7acb\u969c\u5bb3\u8005\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u30bb\u30f3\u30bf\u30fc \u767a\u9054\u969c\u5bb3\u60c5\u5831\u30fb\u652f\u63f4\u30bb\u30f3\u30bf\u30fc<\/a>\u304c\u76f8\u8ac7\u5148\u3084\u652f\u63f4\u306e\u8003\u3048\u65b9\u3092\u307e\u3068\u3081\u3066\u3044\u307e\u3059\u3002\u75c7\u72b6\u306b\u3088\u3063\u3066\u306f<a href=\"https:\/\/www.shouman.jp\/disease\/search\/disease_list\" target=\"_blank\" rel=\"noopener\">\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5<\/a>\u306e\u5bfe\u8c61\u3068\u306a\u308b\u75be\u60a3\u7fa4\u306b\u8a72\u5f53\u3059\u308b\u3053\u3068\u3082\u3042\u308b\u305f\u3081\u3001\u8a8d\u5b9a\u306e\u53ef\u5426\u306f\u81ea\u6cbb\u4f53\u306e\u7a93\u53e3\u3084\u4e3b\u6cbb\u533b\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u6d77\u5916\u306e\u60a3\u8005\u652f\u63f4\u56e3\u4f53<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/3765\/partial-deletion-of-the-long-arm-of-chromosome-7\" target=\"_blank\" rel=\"noopener\">GARD\uff08\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240 \u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\uff09<\/a>\u3084\u3001<a href=\"https:\/\/www.rarechromo.org\/media\/information\/Chromosome%20%207\/7q%20deletions%20proximal%20interstitial%20FTNP.pdf\" target=\"_blank\" rel=\"noopener\">Unique\uff08Rare Chromosome Disorder Support Group\uff09<\/a>\u3092\u901a\u3058\u3066\u3001\u4e16\u754c\u4e2d\u306e\u5bb6\u65cf\u3068\u3064\u306a\u304c\u308b\u3053\u3068\u3082\u53ef\u80fd\u3067\u3059\u3002\u60c5\u5831\u3092\u5171\u6709\u3057\u3001\u300c\u6211\u304c\u5bb6\u3060\u3051\u3067\u306f\u306a\u3044\u300d\u3068\u77e5\u308b\u3053\u3068\u306f\u3001\u5927\u304d\u306a\u529b\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u598a\u5a20\u4e2d\u306e\u4e0d\u5b89\u3092LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%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>8. \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<p><strong>7q21-q32\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u7bc4\u56f2\u304c\u5e83\u304f\u3001\u75c7\u72b6\u306e\u500b\u5225\u6027\u304c\u5f37\u3044\u75be\u60a3\u3067\u3059\u3002<\/strong>\u6700\u5f8c\u306b\u3001\u77e5\u3063\u3066\u304a\u304d\u305f\u3044\u30dd\u30a4\u30f3\u30c8\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u75c7\u72b6\u306f\u500b\u5225\u6027\u304c\u5f37\u3044: \u540c\u3058\u300c7q21-q32\u6b20\u5931\u300d\u3067\u3082\u3001\u6b20\u5931\u306e\u7bc4\u56f2\u304c\u5c11\u3057\u9055\u3046\u3060\u3051\u3067\u75c7\u72b6\u306f\u5909\u308f\u308a\u307e\u3059\u3002\u4ed6\u306e\u5b50\u3068\u6bd4\u3079\u308b\u306e\u3067\u306f\u306a\u304f\u3001\u305d\u306e\u5b50\u81ea\u8eab\u306e\u6210\u9577\u3092\u898b\u5b88\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u624b\u8db3\u30fb\u8033\u30fb\u8a00\u8a9e\u306e\u30c1\u30a7\u30c3\u30af: 7q21\u9818\u57df\u304c\u542b\u307e\u308c\u308b\u5834\u5408\u306f\u6574\u5f62\u5916\u79d1\u7684\u306a\u8a55\u4fa1\u3068\u8074\u529b\u691c\u67fb\u3092\u30017q31\u4ed8\u8fd1\u304c\u542b\u307e\u308c\u308b\u5834\u5408\u306f\u8a00\u8a9e\u767a\u9054\u306e\u8a55\u4fa1\u3092\u512a\u5148\u7684\u306b\u53d7\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n\n\n\n<li>\u5bb6\u65cf\u306e\u8cac\u4efb\u3067\u306f\u306a\u3044: \u67d3\u8272\u4f53\u306e\u5909\u5316\u306f\u5076\u767a\u7684\u306a\u3082\u306e\u3067\u3042\u308a\u3001\u3054\u5bb6\u65cf\u306e\u751f\u6d3b\u3084\u884c\u52d5\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>NIPT\u3067\u306f\u5bfe\u8c61\u5916: \u3053\u306e\u75be\u60a3\u306fNIPT\u306e\u57fa\u672c\u691c\u67fb\u30fb\u62e1\u5927\u691c\u67fb\u306e\u3044\u305a\u308c\u3082\u5bfe\u8c61\u3068\u3057\u3066\u3044\u307e\u305b\u3093\u3002\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u30c1\u30fc\u30e0\u3067\u306e\u30b5\u30dd\u30fc\u30c8: \u533b\u7642\u3001\u6559\u80b2\u3001\u798f\u7949\u304c\u9023\u643a\u3059\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306f\u3086\u3063\u304f\u308a\u3068\u3001\u3057\u304b\u3057\u7740\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%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>9. \u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u3068\u3044\u3046\u8a3a\u65ad\u306f\u3001\u3042\u307e\u308a\u306b\u91cd\u304f\u3001\u53d7\u3051\u5165\u308c\u308b\u307e\u3067\u306b\u6642\u9593\u304c\u304b\u304b\u308b\u3082\u306e\u3067\u3059\u3002\u533b\u5e2b\u304b\u3089\u544a\u3052\u3089\u308c\u305f\u5c02\u9580\u7528\u8a9e\u306e\u6570\u3005\u306b\u3001\u5c06\u6765\u3078\u306e\u7d76\u671b\u611f\u3092\u899a\u3048\u308b\u3053\u3068\u3082\u3042\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u304a\u5b50\u3055\u3093\u306f\u8a3a\u65ad\u540d\u3068\u3044\u3046\u300c\u30e9\u30d9\u30eb\u300d\u305d\u306e\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>7q21-q32\u6b20\u5931\u306e\u304a\u5b50\u3055\u3093\u305f\u3061\u3082\u3001\u597d\u304d\u306a\u98df\u3079\u7269\u304c\u3042\u308a\u3001\u5927\u597d\u304d\u306a\u5bb6\u65cf\u306e\u7b11\u9854\u306b\u559c\u3073\u3001\u81ea\u5206\u306a\u308a\u306e\u30da\u30fc\u30b9\u3067\u4e16\u754c\u3092\u5b66\u3093\u3067\u3044\u304f\u4e00\u4eba\u306e\u5b50\u4f9b\u3067\u3059\u3002\u88c2\u624b\u3084\u88c2\u8db3\u3001\u8a00\u8a9e\u306e\u9045\u308c\u304c\u3042\u3063\u305f\u3068\u3057\u3066\u3082\u3001\u30ea\u30cf\u30d3\u30ea\u3084\u7642\u80b2\u3001\u305d\u3057\u3066\u4fbf\u5229\u306a\u9053\u5177\u3084\u652f\u63f4\u306b\u3088\u3063\u3066\u3001\u591a\u304f\u306e\u3053\u3068\u3092\u6210\u3057\u9042\u3052\u3089\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308b\u304c\u3086\u3048\u306b\u3001\u5468\u308a\u306b\u540c\u3058\u60a9\u307f\u3092\u6301\u3064\u5bb6\u65cf\u3092\u898b\u3064\u3051\u308b\u306e\u306f\u96e3\u3057\u3044\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u305d\u308c\u3067\u3082\u3001SNS\u3084\u6d77\u5916\u306e\u60a3\u8005\u56e3\u4f53\u3092\u901a\u3058\u3066\u3001\u4e16\u754c\u4e2d\u306e\u5bb6\u65cf\u3068\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u6642\u4ee3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5c06\u6765\u3092\u5fc3\u914d\u3057\u3059\u304e\u308b\u3042\u307e\u308a\u3001\u4eca\u306e\u304a\u5b50\u3055\u3093\u306e\u53ef\u611b\u3089\u3057\u3055\u3084\u3001\u5c0f\u3055\u306a\u300c\u3067\u304d\u305f\u300d\u3092\u898b\u9003\u3055\u306a\u3044\u3067\u304f\u3060\u3055\u3044\u3002\u5bdd\u8fd4\u308a\u304c\u3067\u304d\u305f\u3001\u76ee\u304c\u5408\u3063\u305f\u3001\u7b11\u3063\u3066\u304f\u308c\u305f\u3002\u305d\u306e\u4e00\u3064\u3072\u3068\u3064\u304c\u3001\u3042\u306a\u305f\u3068\u304a\u5b50\u3055\u3093\u306b\u3068\u3063\u3066\u7d20\u6674\u3089\u3057\u3044\u77ac\u9593\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u6b69\u305a\u3064\u3001\u304a\u5b50\u3055\u3093\u306e\u30da\u30fc\u30b9\u306b\u5408\u308f\u305b\u3066\u9032\u3093\u3067\u3044\u304d\u307e\u3057\u3087\u3046\u3002\u79c1\u305f\u3061\u306f\u3001\u3054\u5bb6\u65cf\u304c\u5b64\u72ec\u306b\u306a\u3089\u305a\u3001\u9069\u5207\u306a\u652f\u63f4\u3092\u53d7\u3051\u3089\u308c\u308b\u3053\u3068\u3092\u5fc3\u304b\u3089\u9858\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\"><\/span>\u3088\u304f\u3042\u308b\u8cea\u554f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_7q21-q32%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AFNIPT%E3%81%A7%E5%88%86%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. 7q21-q32\u6b20\u5931\u75c7\u5019\u7fa4\u306fNIPT\u3067\u5206\u304b\u308a\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u306e\u57fa\u672c\u7684\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u691c\u67fb\uff0823\u7a2e\uff09\u3001\u5168\u30b2\u30ce\u30e0\u89e3\u6790\u306b\u3082\u3068\u3065\u304f\u62e1\u5927\u691c\u67fb\uff08116\u7a2e\uff09\u306e\u3044\u305a\u308c\u306b\u3082\u3001\u3053\u306e\u75be\u60a3\u306f\u5bfe\u8c61\u75be\u60a3\u3068\u3057\u3066\u542b\u307e\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001\u51fa\u751f\u524d\u3067\u3042\u308c\u3070<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3001\u51fa\u751f\u5f8c\u3067\u3042\u308c\u3070\u8840\u6db2\u691c\u67fb\u306b\u3088\u308b\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\uff08CMA\uff09\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_7q31-q32%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. 7q31-q32\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8fd1\u3044\u540d\u524d\u3067\u3059\u304c\u3001\u7bc4\u56f2\u304c\u7570\u306a\u308b\u5225\u306e\u75be\u60a3\u3068\u3057\u3066\u6271\u308f\u308c\u3066\u3044\u307e\u3059\u30027q21-q32\u6b20\u5931\u306f7q31-q32\u6b20\u5931\u3088\u308a\u5e83\u3044\u7bc4\u56f2\u3092\u542b\u307f\u3001DLX5\u30fbDLX6\u9818\u57df\uff08\u624b\u8db3\u30fb\u8074\u899a\uff09\u3068FOXP2\u9818\u57df\uff08\u8a00\u8a9e\uff09\u306e\u4e21\u65b9\u304c\u5931\u308f\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u30027q31-q32\u6b20\u5931\u306fFOXP2\u9818\u57df\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u3001\u3088\u308a\u72ed\u3044\u7bc4\u56f2\u306e\u6b20\u5931\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_7q213-q311%E9%87%8D%E8%A4%87%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E9%81%95%E3%81%86%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. 7q21.3-q31.1\u91cd\u8907\u75c7\u5019\u7fa4\u3068\u306f\u9055\u3046\u306e\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u306f\u3044\u3001\u9055\u3044\u307e\u3059\u3002\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u540c\u3058\u3088\u3046\u306a\u67d3\u8272\u4f53\u9818\u57df\u3067\u907a\u4f1d\u60c5\u5831\u304c\u300c\u904e\u5270\u300d\u306b\u306a\u308b\u75be\u60a3\u3067\u3001\u672c\u8a18\u4e8b\u3067\u89e3\u8aac\u3057\u3066\u3044\u308b\u300c\u6b20\u5931\uff08\u907a\u4f1d\u60c5\u5831\u304c\u5931\u308f\u308c\u308b\uff09\u300d\u3068\u306f\u9006\u65b9\u5411\u306e\u5909\u5316\u3067\u3059\u3002\u539f\u56e0\u3082\u75c7\u72b6\u306e\u50be\u5411\u3082\u7570\u306a\u308b\u305f\u3081\u3001\u691c\u67fb\u7d50\u679c\u306b\u8a18\u8f09\u3055\u308c\u305f\u300c\u6b20\u5931\u300d\u304b\u300c\u91cd\u8907\u300d\u304b\u3092\u5fc5\u305a\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E8%A8%BA%E6%96%AD%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AB%E7%A2%BA%E5%AE%9A%E3%81%99%E3%82%8B%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u8a3a\u65ad\u306f\u3069\u306e\u3088\u3046\u306b\u78ba\u5b9a\u3059\u308b\u306e\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u624b\u8db3\u306e\u5f62\u614b\u7570\u5e38\u3084\u767a\u9054\u9045\u6ede\u306a\u3069\u306e\u81e8\u5e8a\u75c7\u72b6\u306b\u52a0\u3048\u3001\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\uff08CMA\uff09\u3084\u67d3\u8272\u4f53\u5206\u67d3\u6cd5\uff08G-\u30d0\u30f3\u30c9\u6cd5\uff09\u306b\u3088\u308b7\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u6b20\u5931\u7bc4\u56f2\u306e\u78ba\u8a8d\u3092\u3042\u308f\u305b\u3066\u3001\u7dcf\u5408\u7684\u306b\u8a3a\u65ad\u3057\u307e\u3059\u3002\u51fa\u751f\u524d\u3067\u3042\u308c\u3070<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u3067\u3001\u51fa\u751f\u5f8c\u3067\u3042\u308c\u3070\u8840\u6db2\u691c\u67fb\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E8%A6%AA%E3%81%AE%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%8C%E5%8E%9F%E5%9B%A0%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u89aa\u306e\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u304c\u539f\u56e0\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3044\u3044\u3048\u3001\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u307b\u3068\u3093\u3069\u306f\u5076\u767a\u7684\u306b\u751f\u3058\u308b\u5b64\u767a\u4f8b\uff08de novo\u5909\u7570\uff09\u3067\u3001\u307e\u308c\u306b\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u305d\u306e\u5834\u5408\u3082\u751f\u6d3b\u7fd2\u6163\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6c17\u306b\u306a\u308b\u5834\u5408\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E6%8C%87%E5%AE%9A%E9%9B%A3%E7%97%85%E3%81%AB%E8%AA%8D%E5%AE%9A%E3%81%95%E3%82%8C%E3%81%A6%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u6307\u5b9a\u96e3\u75c5\u306b\u8a8d\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>7q21-q32\u6b20\u5931\u75c7\u5019\u7fa4\u81ea\u4f53\u306f\u3001\u73fe\u6642\u70b9\u3067\u516c\u8868\u3055\u308c\u3066\u3044\u308b\u8cc7\u6599\u306e\u7bc4\u56f2\u3067\u306f\u6307\u5b9a\u96e3\u75c5\u3068\u3057\u3066\u500b\u5225\u306b\u6307\u5b9a\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u305f\u3060\u3057\u3001\u75c7\u72b6\u306b\u3088\u3063\u3066\u306f\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u306e\u5bfe\u8c61\u3068\u306a\u308b\u75be\u60a3\u7fa4\u306b\u8a72\u5f53\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u8a8d\u5b9a\u306e\u53ef\u5426\u306f\u81ea\u6cbb\u4f53\u306e\u7a93\u53e3\u3084\u4e3b\u6cbb\u533b\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div style=\"border:1px solid #f0d0dc;border-radius:12px;padding:1.2em 1.4em;margin:2.5rem 0 1rem;background:#fffafc;\">\n<p style=\"margin:0 0 0.4em;font-weight:bold;\">\u8457\u8005\u30fb\u76e3\u4fee<\/p>\n<p style=\"margin:0;\">\u5ca1 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306e\u60c5\u5831\u3092\u767a\u4fe1\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<\/div>\n\n\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"FAQPage\",\n  \"mainEntity\": [\n    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