{"id":121723,"date":"2026-01-07T16:28:58","date_gmt":"2026-01-07T07:28:58","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121723"},"modified":"2026-01-07T16:29:00","modified_gmt":"2026-01-07T07:29:00","slug":"chromosome-8q-duplication","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8q-duplication\/","title":{"rendered":"8q\u67d3\u8272\u4f53\u91cd\u8907\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<p>\u304a\u5b50\u69d8\u3084\u3054\u5bb6\u65cf\u304c\u300c8q\u67d3\u8272\u4f53\u91cd\u8907\u300d\u3068\u3044\u3046\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u969b\u3001\u307e\u305a\u611f\u3058\u308b\u306e\u306f\u300c\u3053\u308c\u304b\u3089\u3069\u3046\u306a\u308b\u306e\u3060\u308d\u3046\u304b\u300d\u3068\u3044\u3046\u5f37\u3044\u4e0d\u5b89\u3067\u306f\u306a\u3044\u3067\u3057\u3087\u3046\u304b\u3002\u67d3\u8272\u4f53\u75be\u60a3\u306f\u5e0c\u5c11\u306a\u3082\u306e\u304c\u591a\u304f\u3001\u4e00\u822c\u7684\u306a\u533b\u7642\u60c5\u5831\u30b5\u30a4\u30c8\u3067\u3082\u5341\u5206\u306a\u8aac\u660e\u304c\u898b\u5f53\u305f\u3089\u306a\u3044\u3053\u3068\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u67d3\u8272\u4f53\u75be\u60a3\u306e\u7406\u89e3\u306b\u304a\u3044\u3066\u6700\u3082\u91cd\u8981\u306a\u306e\u306f\u3001\u305d\u308c\u304c\u300c\u8ab0\u306e\u305b\u3044\u3067\u3082\u306a\u3044\u5076\u7136\u306e\u51fa\u6765\u4e8b\u300d\u3067\u3042\u308b\u3053\u3068\u3092\u77e5\u308b\u3053\u3068\u3001\u305d\u3057\u3066\u300c\u304a\u5b50\u69d8\u306e\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u300d\u3092\u65e9\u671f\u306b\u958b\u59cb\u3059\u308b\u3053\u3068\u3067\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u30018q\u67d3\u8272\u4f53\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u6982\u8981\u304b\u3089\u3001\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u3001\u305d\u3057\u3066\u5c06\u6765\u306b\u5411\u3051\u305f\u7ba1\u7406\u65b9\u6cd5\u307e\u3067\u3092\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<div 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>\u591a\u8077\u7a2e\u30c1\u30fc\u30e0\u306b\u3088\u308b\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-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8q-duplication\/#%E6%97%A9%E6%9C%9F%E7%99%82%E8%82%B2%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\" >\u65e9\u671f\u7642\u80b2\u306e\u91cd\u8981\u6027<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8q-duplication\/#%E5%AD%A6%E6%A0%A1%E7%94%9F%E6%B4%BB%E3%81%A8%E7%A6%8F%E7%A5%89%E3%81%AE%E6%B4%BB%E7%94%A8\" >\u5b66\u6821\u751f\u6d3b\u3068\u798f\u7949\u306e\u6d3b\u7528<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8q-duplication\/#6_%E3%81%BE%E3%81%A8%E3%82%81\" >6. \u307e\u3068\u3081<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8q-duplication\/#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%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span><strong>1. \u6982\u8981\uff1a\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%8C8q%E3%80%8D%E3%81%AE%E6%84%8F%E5%91%B3\"><\/span><strong>\u67d3\u8272\u4f53\u3068\u300c8q\u300d\u306e\u610f\u5473<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u79c1\u305f\u3061\u306e\u4f53\u306f\u3001\u6570\u5341\u5146\u500b\u306e\u7d30\u80de\u3067\u3067\u304d\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u4e00\u3064\u3072\u3068\u3064\u306e\u7d30\u80de\u306e\u6838\u306b\u306f\u3001\u4f53\u306e\u8a2d\u8a08\u56f3\u3067\u3042\u308b\u300c\u907a\u4f1d\u5b50\u300d\u304c\u53ce\u3081\u3089\u308c\u305f<strong>\u67d3\u8272\u4f53<\/strong>\u3068\u3044\u3046\u69cb\u9020\u7269\u304c\u3042\u308a\u307e\u3059\u3002\u901a\u5e38\u3001\u4eba\u9593\u306f23\u5bfe\uff08\u8a0846\u672c\uff09\u306e\u67d3\u8272\u4f53\u3092\u6301\u3063\u3066\u304a\u308a\u3001\u305d\u306e\u3046\u3061\u306e8\u756a\u76ee\u306e\u30da\u30a2\u3092\u300c8\u756a\u67d3\u8272\u4f53\u300d\u3068\u547c\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u67d3\u8272\u4f53\u306f\u4e2d\u5fc3\u306b\u3042\u308b\u300c\u4e2d\u5fc3\u7bc0\uff08\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\uff09\u300d\u3092\u5883\u306b\u3001\u77ed\u3044\u65b9\u3092\u300cp\uff08\u77ed\u8155\uff09\u300d\u3001\u9577\u3044\u65b9\u3092\u300cq\uff08\u9577\u8155\uff09\u300d\u3068\u547c\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>8q\u67d3\u8272\u4f53\u91cd\u8907\u75c7\u5019\u7fa4<\/strong>\u3068\u306f\u3001\u3053\u306e8\u756a\u67d3\u8272\u4f53\u306e\u9577\u3044\u65b9\u306e\u8155\uff08q\uff09\u306e\u4e00\u90e8\u3001\u3042\u308b\u3044\u306f\u5168\u90e8\u304c\u3001\u901a\u5e38\u3088\u308a\u3082\u591a\u304f\uff08\u91cd\u8907\u3057\u3066\uff09\u5b58\u5728\u3057\u3066\u3044\u308b\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002\u672c\u6765\u306f2\u672c\u3042\u308b\u306f\u305a\u306e\u8a2d\u8a08\u56f3\u306e\u4e00\u90e8\u304c\u30013\u672c\uff08\u30c8\u30ea\u30bd\u30df\u30fc\uff09\u306b\u306a\u3063\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002\u3053\u308c\u3092\u300c8q\u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc\u300d\u3068\u547c\u3076\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u8a2d\u8a08\u56f3\u306e\u4e00\u90e8\u304c\u300c\u904e\u5270\u300d\u3067\u3042\u308b\u305f\u3081\u306b\u3001\u4f53\u3084\u8133\u306e\u767a\u9054\u306b\u5fc5\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7523\u751f\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3001\u3055\u307e\u3056\u307e\u306a\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%87%8D%E8%A4%87%E3%81%AE%E7%AF%84%E5%9B%B2%E3%81%AB%E3%82%88%E3%82%8B%E9%81%95%E3%81%84\"><\/span><strong>\u91cd\u8907\u306e\u7bc4\u56f2\u306b\u3088\u308b\u9055\u3044<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>8q\u91cd\u8907\u306f\u3001\u91cd\u8907\u3057\u3066\u3044\u308b\u5834\u6240\u3084\u9577\u3055\u306b\u3088\u3063\u3066\u3001\u304a\u5b50\u69d8\u4e00\u4eba\u3072\u3068\u308a\u306e\u75c7\u72b6\u304c\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8fd1\u4f4d\u90e8\u91cd\u8907\uff08\u4e2d\u5fc3\u7bc0\u306b\u8fd1\u3044\u5074\uff09<\/strong>: \u6bd4\u8f03\u7684\u7a4f\u3084\u304b\u306a\u75c7\u72b6\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9060\u4f4d\u90e8\u91cd\u8907\uff08\u5148\u7aef\u306b\u8fd1\u3044\u5074\uff09<\/strong>: \u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3084\u5668\u5b98\u306e\u5408\u4f75\u75c7\u3001\u767a\u9054\u306e\u9045\u308c\u304c\u3088\u308a\u9855\u8457\u306b\u73fe\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5168\u91cd\u8907\uff088\u756a\u67d3\u8272\u4f53\u9577\u8155\u5168\u4f53\u306e\u91cd\u8907\uff09<\/strong>: \u975e\u5e38\u306b\u7a00\u3067\u3059\u304c\u3001\u5168\u8eab\u306e\u591a\u304f\u306e\u5668\u5b98\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\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\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>8q\u67d3\u8272\u4f53\u91cd\u8907\u306e\u75c7\u72b6\u306f\u3001\u91cd\u8907\u3057\u3066\u3044\u308b\u907a\u4f1d\u5b50\u306e\u6570\u3084\u7a2e\u985e\u306b\u3088\u3063\u3066\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u3002\u300c\u6559\u79d1\u66f8\u7684\u306a\u75c7\u72b6\u300d\u304c\u3059\u3079\u3066\u73fe\u308c\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u4e00\u4eba\u3072\u3068\u308a\u500b\u5225\u306e\u7279\u6027\u3068\u3057\u3066\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E3%81%A8%E7%9F%A5%E8%83%BD%E3%81%AE%E7%89%B9%E6%80%A7\"><\/span><strong>\u767a\u9054\u3068\u77e5\u80fd\u306e\u7279\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u6ede<\/strong>: \u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u30cf\u30a4\u30cf\u30a4\u3001\u6b69\u884c\u3068\u3044\u3063\u305f\u904b\u52d5\u9762\u306e\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u9032\u307f\u307e\u3059\u3002\u7b4b\u8089\u306e\u5f35\u308a\uff08\u30c8\u30fc\u30f3\uff09\u304c\u5f31\u3044\u300c\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u300d\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u304f\u3001\u3053\u308c\u304c\u904b\u52d5\u306e\u9045\u308c\u306e\u4e3b\u306a\u539f\u56e0\u3068\u306a\u308a\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><\/strong>: \u591a\u304f\u306e\u30b1\u30fc\u30b9\u3067\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u5b66\u7fd2\u9762\u3067\u306f\u62bd\u8c61\u7684\u306a\u6982\u5ff5\u306e\u7406\u89e3\u306b\u6642\u9593\u304c\u304b\u304b\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u8996\u899a\u7684\u306a\u60c5\u5831\u306f\u7406\u89e3\u3057\u3084\u3059\u3044\u3068\u3044\u3046\u7279\u6027\u3092\u6301\u3064\u5b50\u3082\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u306e\u767a\u9054<\/strong>: \u8a00\u8449\u306e\u7406\u89e3\u306f\u9032\u3093\u3067\u3044\u3066\u3082\u3001\u5b9f\u969b\u306b\u8a00\u8449\u3092\u767a\u3059\u308b\uff08\u767a\u8a71\uff09\u307e\u3067\u306b\u6642\u9593\u304c\u304b\u304b\u308b\u306e\u304c\u4e00\u3064\u306e\u7279\u5fb4\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%BA%AB%E4%BD%93%E7%9A%84%E3%83%BB%E5%A4%96%E8%A6%8B%E7%9A%84%E3%81%AA%E7%89%B9%E5%BE%B4\"><\/span><strong>\u8eab\u4f53\u7684\u30fb\u5916\u898b\u7684\u306a\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u308c\u3089\u306f\u533b\u5b66\u7684\u306b\u300c\u9854\u8c8c\u306e\u7279\u5fb4\u300d\u3068\u547c\u3070\u308c\u307e\u3059\u304c\u3001\u5171\u901a\u3057\u3066\u898b\u3089\u308c\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5e83\u3044\u984d\u3001\u3042\u308b\u3044\u306f\u7a81\u51fa\u3057\u305f\u984d\u3002<\/li>\n\n\n\n<li>\u9f3b\u7b4b\u304c\u306f\u3063\u304d\u308a\u3057\u3066\u3044\u308b\u3001\u307e\u305f\u306f\u9f3b\u306e\u5148\u7aef\u304c\u4e38\u3044\u3002<\/li>\n\n\n\n<li>\u4e0a\u5507\u304c\u8584\u304f\u3001\u53e3\u306e\u7aef\u304c\u308f\u305a\u304b\u306b\u4e0b\u304c\u308b\u3002<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u901a\u5e38\u3088\u308a\u308f\u305a\u304b\u306b\u4f4e\u3044\u3001\u3042\u308b\u3044\u306f\u5f62\u304c\u7279\u5fb4\u7684\u3002<\/li>\n\n\n\n<li>\u5c0f\u984e\u75c7\uff08\u4e0b\u3042\u3054\u304c\u5c0f\u3055\u3044\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%BA%AB%E4%BD%93%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\"><\/span><strong>\u8eab\u4f53\u306e\u5408\u4f75\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5185\u81d3\u3084\u9aa8\u683c\u306b\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9aa8\u683c\u306e\u7570\u5e38<\/strong>: \u80cc\u9aa8\u304c\u66f2\u304c\u308b\u300c\u5074\u5f2f\u75c7\u300d\u3084\u3001\u6307\u306e\u95a2\u7bc0\u304c\u66f2\u304c\u3063\u305f\u307e\u307e\u306b\u306a\u308b\u300c\u5c48\u6307\u75c7\u300d\u3001\u3042\u308b\u3044\u306f\u95a2\u7bc0\u306e\u786c\u76f4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3<\/strong>: \u5fc3\u81d3\u306e\u58c1\u306b\u7a74\u304c\u958b\u3044\u3066\u3044\u308b\uff08\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u306a\u3069\uff09\u30b1\u30fc\u30b9\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6ccc\u5c3f\u5668\u7cfb\u306e\u7570\u5e38<\/strong>: \u814e\u81d3\u306e\u5f62\u3084\u4f4d\u7f6e\u306e\u7570\u5e38\u3001\u6c34\u814e\u75c7\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8133\u306e\u69cb\u9020\u7684\u5909\u5316<\/strong>: \u8133\u306e\u5de6\u53f3\u3092\u3064\u306a\u3050\u300c\u8133\u6881\u300d\u306e\u6b20\u640d\u3084\u5f62\u6210\u4e0d\u5168\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=\"%E8%A1%8C%E5%8B%95%E3%81%AE%E7%89%B9%E6%80%A7\"><\/span><strong>\u884c\u52d5\u306e\u7279\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7a4f\u3084\u304b\u3067\u793e\u4ea4\u7684\u306a\u6027\u683c\u3067\u3042\u308b\u3068\u8a00\u53ca\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u4e00\u65b9\u3067<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\uff08ASD\uff09\u306e\u3088\u3046\u306a\u3053\u3060\u308f\u308a\u3084\u3001\u591a\u52d5\u6027\u3001\u6ce8\u610f\u529b\u306e\u6b20\u5982\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E5%8E%9F%E5%9B%A0\"><\/span><strong>3. \u539f\u56e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u304a\u5b50\u69d8\u304c\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3042\u308b\u3068\u544a\u3052\u3089\u308c\u305f\u3068\u304d\u3001\u591a\u304f\u306e\u3054\u5bb6\u65cf\u306f\u300c\u539f\u56e0\u306f\u4f55\u3060\u3063\u305f\u306e\u304b\u300d\u300c\u81ea\u5206\u306e\u751f\u6d3b\u306e\u4f55\u304b\u304c\u3044\u3051\u306a\u304b\u3063\u305f\u306e\u3067\u306f\u306a\u3044\u304b\u300d\u3068\u81ea\u554f\u81ea\u7b54\u3055\u308c\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u73fe\u4ee3\u533b\u5b66\u306e\u77e5\u898b\u306b\u304a\u3044\u3066\u30018q\u67d3\u8272\u4f53\u91cd\u8907\u306e\u767a\u751f\u30e1\u30ab\u30cb\u30ba\u30e0\u306f\u7d30\u80de\u30ec\u30d9\u30eb\u306e\u300c\u5076\u767a\u7684\u306a\u4e8b\u8c61\u300d\u3067\u3042\u308b\u3053\u3068\u304c\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u3053\u3067\u306f\u3001\u305d\u306e\u8a73\u7d30\u306a\u539f\u56e0\u3092\u3044\u304f\u3064\u304b\u306e\u5074\u9762\u304b\u3089\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BB%E3%81%A8%E3%82%93%E3%81%A9%E3%81%8C%E3%80%8C%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%EF%BC%88de_novo%EF%BC%89%E3%80%8D\"><\/span><strong>\u307b\u3068\u3093\u3069\u304c\u300c\u7a81\u7136\u5909\u7570\uff08de novo\uff09\u300d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>8q\u67d3\u8272\u4f53\u91cd\u8907\u306e\u5927\u90e8\u5206\uff08\u7d0490%\u4ee5\u4e0a\uff09\u306f\u3001\u300c\u30c7\u30ce\u30dc\uff08de novo\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u73fe\u8c61\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u300c\u65b0\u305f\u306b\u767a\u751f\u3057\u305f\u300d\u3068\u3044\u3046\u610f\u5473\u306e\u30e9\u30c6\u30f3\u8a9e\u3067\u3059\u3002 \u3064\u307e\u308a\u3001\u3054\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306b\u306f\u4f55\u306e\u7570\u5e38\u3082\u306a\u304f\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5375\u304c\u7d30\u80de\u5206\u88c2\u3092\u7e70\u308a\u8fd4\u3059\u975e\u5e38\u306b\u521d\u671f\u306e\u6bb5\u968e\u3067\u3001\u5076\u7136\u306b\u67d3\u8272\u4f53\u306e\u7d44\u307f\u63db\u3048\u30df\u30b9\u304c\u767a\u751f\u3057\u305f\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u7a81\u7136\u5909\u7570\u306f\u3001\u4ee5\u4e0b\u306e2\u3064\u306e\u30bf\u30a4\u30df\u30f3\u30b0\u306e\u3044\u305a\u308c\u304b\u3067\u767a\u751f\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u6e1b\u6570\u5206\u88c2\u6642\u306e\u30a8\u30e9\u30fc<\/strong>: \u7cbe\u5b50\u3084\u5375\u5b50\uff08\u914d\u5076\u8005\uff09\u304c\u4f5c\u3089\u308c\u308b\u969b\u3001\u79c1\u305f\u3061\u306e\u4f53\u306f\u67d3\u8272\u4f53\u3092\u534a\u5206\u306b\u5206\u3051\u308b\u300c\u6e1b\u6570\u5206\u88c2\u300d\u3092\u884c\u3044\u307e\u3059\u3002\u3053\u306e\u904e\u7a0b\u3067\u3001\u67d3\u8272\u4f53\u304c\u4e00\u90e8\u3092\u4ea4\u63db\u3057\u5408\u3046\u300c\u4ea4\u53c9\uff08\u3053\u3046\u3055\uff09\u300d\u304c\u8d77\u304d\u307e\u3059\u304c\u3001\u305d\u306e\u969b\u306b\u5207\u308a\u8cbc\u308a\u306e\u4f4d\u7f6e\u304c\u305a\u308c\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u53d7\u7cbe\u5f8c\u306e\u4f53\u7d30\u80de\u5206\u88c2\u6642\u306e\u30a8\u30e9\u30fc<\/strong>: \u53d7\u7cbe\u5375\u304c\u6210\u9577\u3059\u308b\u904e\u7a0b\u3067\u3001\u7d30\u80de\u304c2\u3064\u30014\u3064\u3068\u5897\u3048\u3066\u3044\u304f\u969b\u306e\u30b3\u30d4\u30fc\u30df\u30b9\u3067\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u4f53\u306e\u4e00\u90e8\u306e\u7d30\u80de\u3060\u3051\u304c\u91cd\u8907\u3092\u6301\u3064\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u300d\u3068\u3044\u3046\u72b6\u614b\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E3%80%8C%E7%B5%84%E3%81%BF%E6%8F%9B%E3%81%88%E3%83%9F%E3%82%B9%E3%80%8D%E3%81%AE%E7%94%9F%E7%89%A9%E5%AD%A6%E7%9A%84%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0\"><\/span><strong>\u67d3\u8272\u4f53\u306e\u300c\u7d44\u307f\u63db\u3048\u30df\u30b9\u300d\u306e\u751f\u7269\u5b66\u7684\u30e1\u30ab\u30cb\u30ba\u30e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u306a\u305c\u3001\u7279\u5b9a\u306e\u5834\u6240\u3067\u91cd\u8907\u304c\u8d77\u304d\u308b\u306e\u3067\u3057\u3087\u3046\u304b\u3002\u305d\u308c\u306b\u306f\u3001\u67d3\u8272\u4f53\u306e\u69cb\u9020\u304c\u95a2\u4fc2\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3092\u300c\u975e\u5bfe\u7acb\u907a\u4f1d\u5b50\u9593\u76f8\u540c\u7d44\u63db\u3048\uff08NAHR\uff09\u300d\u3068\u547c\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u305f\u3061\u306eDNA\u306b\u306f\u3001\u975e\u5e38\u306b\u4f3c\u305f\u3088\u3046\u306a\u5869\u57fa\u914d\u5217\uff08DNA\u306e\u4e26\u3073\uff09\u304c\u7e70\u308a\u8fd4\u3055\u308c\u3066\u3044\u308b\u5834\u6240\u304c\u70b9\u5728\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u300c\u4f4e\u30b3\u30d4\u30fc\u53cd\u5fa9\u914d\u5217\uff08LCRs\uff09\u300d\u3068\u547c\u3070\u308c\u307e\u3059\u3002\u7d30\u80de\u304c\u5206\u88c2\u3057\u3001\u67d3\u8272\u4f53\u3092\u30b3\u30d4\u30fc\u3059\u308b\u969b\u3001\u7d30\u80de\u306f\u3053\u306e\u300c\u3088\u304f\u4f3c\u305f\u76ee\u5370\u300d\u3092\u300c\u672c\u6765\u306e\u30da\u30a2\u306e\u76f8\u624b\u300d\u3060\u3068\u52d8\u9055\u3044\u3057\u3066\u7d50\u5408\u3057\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f8b\u3048\u308b\u306a\u3089<\/strong>: \u672c\u306e\u30da\u30fc\u30b8\u3092\u3081\u304f\u308b\u3068\u304d\u3001100\u30da\u30fc\u30b8\u3068200\u30da\u30fc\u30b8\u306b\u5168\u304f\u540c\u3058\u6587\u7ae0\u304c\u66f8\u304b\u308c\u3066\u3044\u305f\u3068\u3057\u307e\u3059\u3002\u7d30\u80de\u306f\u305d\u306e\u6587\u7ae0\u3092\u300c\u540c\u3058\u5834\u6240\u3060\u300d\u3068\u601d\u3044\u8fbc\u307f\u3001101\u30da\u30fc\u30b8\u304b\u3089199\u30da\u30fc\u30b8\u307e\u3067\u3092\u3082\u3046\u4e00\u5ea6\u30b3\u30d4\u30fc\u3057\u3066\u633f\u5165\u3057\u3066\u3057\u307e\u3046\u3088\u3046\u306a\u73fe\u8c61\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u30a8\u30e9\u30fc\u306e\u7d50\u679c\u3001\u7279\u5b9a\u306e\u9818\u57df\u304c2\u500d\u306b\u306a\u308b\uff08\u91cd\u8907\uff09\u67d3\u8272\u4f53\u304c\u751f\u307e\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u751f\u7269\u304c\u9032\u5316\u3059\u308b\u904e\u7a0b\u3067\u30b2\u30ce\u30e0\u304c\u8907\u96d1\u5316\u3057\u305f\u526f\u7523\u7269\u3068\u3082\u8a00\u3048\u308b\u3082\u306e\u3067\u3001\u8ab0\u306e\u4f53\u306e\u4e2d\u3067\u3082\u4e00\u5b9a\u306e\u78ba\u7387\u3067\u8d77\u3053\u308a\u3046\u308b\u73fe\u8c61\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E3%81%99%E3%82%8B%E5%A0%B4%E5%90%88%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\u3059\u308b\u5834\u5408\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\u300d\u3068\u3044\u3046\u67d3\u8272\u4f53\u306e\u72b6\u614b\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u306b\u907a\u4f1d\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5747\u8861\u578b\u8ee2\u5ea7\u3068\u306f<\/strong>: \u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u4ed6\u306e\u67d3\u8272\u4f53\u306b\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\uff08\u4f8b\uff1a8\u756a\u306e\u4e00\u90e8\u304c10\u756a\u306b\u3064\u3044\u3066\u3044\u308b\u306a\u3069\uff09\u72b6\u614b\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u907a\u4f1d\u5b50\u306e\u7dcf\u91cf\u306b\u306f\u904e\u4e0d\u8db3\u304c\u306a\u3044\u305f\u3081\u3001\u89aa\u5fa1\u3055\u3093\u81ea\u8eab\u306b\u306f\u75c7\u72b6\u304c\u5168\u304f\u306a\u304f\u3001\u691c\u67fb\u3092\u3059\u308b\u307e\u3067\u6c17\u3065\u304b\u306a\u3044\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e0d\u5747\u8861\u578b\u3078\u306e\u79fb\u884c<\/strong>: \u89aa\u304b\u3089\u5b50\u3078\u67d3\u8272\u4f53\u304c\u53d7\u3051\u7d99\u304c\u308c\u308b\u969b\u3001\u3053\u306e\u300c\u5165\u308c\u66ff\u308f\u3063\u305f\u90e8\u5206\u300d\u304c\u539f\u56e0\u3067\u3001\u7247\u65b9\u306e\u30d1\u30fc\u30c4\u3060\u3051\u304c\u4f59\u5206\u306b\uff08\u91cd\u8907\u3057\u3066\uff09\u4f1d\u308f\u3063\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3082\u3057\u5747\u8861\u578b\u8ee2\u5ea7\u304c\u78ba\u8a8d\u3055\u308c\u305f\u5834\u5408\u306f\u3001\u4eca\u5f8c\u306e\u304a\u5b50\u69d8\u3092\u6388\u304b\u308b\u969b\u306e\u518d\u767a\u7387\u306b\u3064\u3044\u3066\u3001\u5c02\u9580\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u8a73\u3057\u304f\u76f8\u8ac7\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%9F%E6%B4%BB%E7%BF%92%E6%85%A3%E3%82%84%E7%92%B0%E5%A2%83%E3%81%AE%E5%BD%B1%E9%9F%BF%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\"><\/span><strong>\u751f\u6d3b\u7fd2\u6163\u3084\u74b0\u5883\u306e\u5f71\u97ff\u306b\u3064\u3044\u3066<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u3053\u304c\u6700\u3082\u91cd\u8981\u306a\u70b9\u3067\u3059\u304c\u3001<strong>\u300c\u598a\u5a20\u4e2d\u306e\u98df\u4e8b\u3001\u904b\u52d5\u3001\u4ed5\u4e8b\u306e\u30b9\u30c8\u30ec\u30b9\u3001\u670d\u85ac\u3001\u3042\u308b\u3044\u306f\u30b9\u30de\u30fc\u30c8\u30d5\u30a9\u30f3\u306e\u96fb\u6ce2\u3084\u653e\u5c04\u7dda\u300d\u306a\u3069\u304c\u539f\u56e0\u30678q\u67d3\u8272\u4f53\u91cd\u8907\u304c\u8d77\u3053\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong><\/p>\n\n\n\n<p>\u67d3\u8272\u4f53\u306e\u91cd\u8907\u306f\u3001\u751f\u547d\u306e\u8a2d\u8a08\u56f3\u304c\u66f8\u304d\u5199\u3055\u308c\u308b\u969b\u306e\u7d14\u7c8b\u306b\u751f\u7269\u5b66\u7684\u306a\u30b3\u30d4\u30fc\u30a8\u30e9\u30fc\u3067\u3059\u3002\u89aa\u306e\u611b\u60c5\u3084\u80b2\u3066\u65b9\u3001\u3042\u308b\u3044\u306f\u598a\u5a20\u4e2d\u306e\u4f55\u3089\u304b\u306e\u884c\u52d5\u304c\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3053\u3068\u306f\u7269\u7406\u7684\u306b\u3042\u308a\u5f97\u307e\u305b\u3093\u3002\u3057\u305f\u304c\u3063\u3066\u3001\u3054\u5bb6\u65cf\u304c\u81ea\u5206\u81ea\u8eab\u3092\u8cac\u3081\u308b\u3053\u3068\u306f\u3001\u79d1\u5b66\u7684\u306b\u3082\u5168\u304f\u6839\u62e0\u306e\u306a\u3044\u3053\u3068\u306a\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%87%8D%E8%A4%87%E3%81%99%E3%82%8B%E3%80%8C%E5%A0%B4%E6%89%80%E3%80%8D%E3%81%AB%E3%82%88%E3%82%8B%E5%BD%B1%E9%9F%BF%E3%81%AE%E9%81%95%E3%81%84\"><\/span><strong>\u91cd\u8907\u3059\u308b\u300c\u5834\u6240\u300d\u306b\u3088\u308b\u5f71\u97ff\u306e\u9055\u3044<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>8q\u9818\u57df\u306f\u975e\u5e38\u306b\u9577\u3044\u305f\u3081\u3001\u3069\u306e\u90e8\u5206\u304c\u91cd\u8907\u3059\u308b\u304b\u306b\u3088\u3063\u3066\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u3082\u7570\u306a\u308a\u307e\u3059\u3002 \u4f8b\u3048\u3070\u30018q24\u3068\u3044\u3046\u5148\u7aef\u306b\u8fd1\u3044\u9818\u57df\u306b\u306f\u3001\u7d30\u80de\u306e\u6210\u9577\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u591a\u304f\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u3069\u306e\u907a\u4f1d\u5b50\u304c\u300c3\u672c\u300d\u5b58\u5728\u3059\u308b\u3053\u3068\u306b\u306a\u3063\u305f\u306e\u304b\u3092\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u306a\u3069\u3067\u7279\u5b9a\u3059\u308b\u3053\u3068\u3067\u3001\u306a\u305c\u305d\u306e\u75c7\u72b6\u304c\u73fe\u308c\u3066\u3044\u308b\u306e\u304b\u3068\u3044\u3046\u539f\u56e0\u3092\u3088\u308a\u8a73\u3057\u304f\u7406\u89e3\u3059\u308b\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\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%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\u5916\u898b\u306e\u5146\u5019\u3084\u767a\u9054\u306e\u9045\u308c\u3092\u304d\u3063\u304b\u3051\u306b\u3001\u7cbe\u5bc6\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E6%9F%93%E8%89%B2%E4%BD%93%E6%A0%B8%E5%9E%8B%E5%88%86%E6%9E%90%EF%BC%88G%E5%88%86%E6%9F%93%E6%B3%95%EF%BC%89\"><\/span><strong>1. \u67d3\u8272\u4f53\u6838\u578b\u5206\u6790\uff08G\u5206\u67d3\u6cd5\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8840\u6db2\u691c\u67fb\u306b\u3088\u3063\u3066\u3001\u9855\u5fae\u93e1\u3067\u67d3\u8272\u4f53\u306e\u6570\u3084\u5f62\u3092\u78ba\u8a8d\u3059\u308b\u6700\u3082\u57fa\u672c\u7684\u306a\u691c\u67fb\u3067\u3059\u3002\u5927\u304d\u306a\u91cd\u8907\u3067\u3042\u308c\u3070\u3001\u3053\u306e\u691c\u67fb\u3067\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E3%83%95%E3%82%A3%E3%83%83%E3%82%B7%E3%83%A5%E6%B3%95%EF%BC%88FISH%E6%B3%95%EF%BC%89\"><\/span><strong>2. \u30d5\u30a3\u30c3\u30b7\u30e5\u6cd5\uff08FISH\u6cd5\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7279\u5b9a\u306eDNA\u914d\u5217\u3092\u5149\u3089\u305b\u3066\u78ba\u8a8d\u3059\u308b\u65b9\u6cd5\u3067\u3059\u3002\u7279\u5b9a\u306e\u5834\u6240\u304c\u91cd\u8907\u3057\u3066\u3044\u308b\u7591\u3044\u304c\u3042\u308b\u5834\u5408\u306b\u3001\u305d\u306e\u9818\u57df\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u4f7f\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%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>3. \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff08CMA\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u73fe\u5728\u306e\u8a3a\u65ad\u306b\u304a\u3044\u3066\u6700\u3082\u91cd\u8981\u306a\u691c\u67fb\u3067\u3059\u3002\u9855\u5fae\u93e1\u3067\u306f\u7d76\u5bfe\u306b\u898b\u3048\u306a\u3044\u3088\u3046\u306a\u3001\u3054\u304f\u308f\u305a\u304b\u306a\u907a\u4f1d\u5b50\u306e\u91cd\u8907\uff08\u5fae\u7d30\u91cd\u8907\uff09\u3092\u691c\u51fa\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30e1\u30ea\u30c3\u30c8<\/strong>: \u3069\u306e\u907a\u4f1d\u5b50\u304c\u3001\u3069\u306e\u7bc4\u56f2\u3067\u91cd\u8907\u3057\u3066\u3044\u308b\u304b\u3092\u6b63\u78ba\u306b\u6570\u5024\u5316\u3067\u304d\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u5c06\u6765\u7684\u306b\u3069\u306e\u3088\u3046\u306a\u5408\u4f75\u75c7\u306b\u6ce8\u610f\u3059\u3079\u304d\u304b\u306e\u4e88\u6e2c\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E5%BE%8C%E3%81%AE%E8%BF%BD%E5%8A%A0%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u8a3a\u65ad\u5f8c\u306e\u8ffd\u52a0\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8a3a\u65ad\u304c\u78ba\u5b9a\u3057\u305f\u5f8c\u306f\u3001\u4f53\u306e\u5185\u90e8\u306b\u5408\u4f75\u75c7\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306e\u5168\u8eab\u30c1\u30a7\u30c3\u30af\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u30a8\u30b3\u30fc<\/strong>: \u5fc3\u81d3\u306e\u69cb\u9020\u3092\u78ba\u8a8d\u3002<\/li>\n\n\n\n<li><strong>\u8179\u90e8\u8d85\u97f3\u6ce2<\/strong>: \u814e\u81d3\u3084\u6d88\u5316\u5668\u306e\u78ba\u8a8d\u3002<\/li>\n\n\n\n<li><strong>\u982d\u90e8MRI<\/strong>: \u8133\u306e\u69cb\u9020\u3092\u78ba\u8a8d\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u30fb\u8033\u9f3b\u79d1\u691c\u8a3a<\/strong>: \u8996\u529b\u3084\u8074\u529b\u306b\u554f\u984c\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\uff08\u767a\u9054\u3078\u306e\u5f71\u97ff\u3092\u6700\u5c0f\u9650\u306b\u3059\u308b\u305f\u3081\u91cd\u8981\u3067\u3059\uff09\u3002<\/li>\n<\/ul>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2025\/09\/33435182_s-1.webp\" alt=\"\u533b\u8005\" class=\"wp-image-116941\"\/><\/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\"><\/span><strong>5. \u6cbb\u7642\u3068\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u5728\u306e\u533b\u5b66\u3067\u306f\u3001\u91cd\u8907\u3057\u3066\u3044\u308b\u67d3\u8272\u4f53\u3092\u300c\u4fee\u6b63\u300d\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u304a\u5b50\u69d8\u304c\u6301\u3063\u3066\u3044\u308b\u529b\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3057\u3001\u751f\u6d3b\u3057\u3084\u3059\u304f\u3059\u308b\u305f\u3081\u306e\u300c\u5bfe\u75c7\u7642\u6cd5\u300d\u3068\u300c\u7642\u80b2\u300d\u306f\u975e\u5e38\u306b\u5145\u5b9f\u3057\u3066\u3044\u307e\u3059\u3002<\/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%E3%83%81%E3%83%BC%E3%83%A0%E3%81%AB%E3%82%88%E3%82%8B%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span><strong>\u591a\u8077\u7a2e\u30c1\u30fc\u30e0\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>8q\u67d3\u8272\u4f53\u91cd\u8907\u306e\u304a\u5b50\u69d8\u306b\u306f\u3001\u591a\u304f\u306e\u5c02\u9580\u5bb6\u304c\u95a2\u308f\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u5c0f\u5150\u79d1\u533b\uff08\u907a\u4f1d\u30fb\u795e\u7d4c\uff09<\/strong>: \u5168\u4f53\u7684\u306a\u767a\u80b2\u306e\u30d5\u30a9\u30ed\u30fc\u3068\u3001\u3066\u3093\u304b\u3093\u306a\u3069\u306e\u795e\u7d4c\u75c7\u72b6\u306e\u7ba1\u7406\u3002<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\u58eb\uff08PT\uff09<\/strong>: \u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3092\u88dc\u3044\u3001\u5ea7\u308b\u3001\u6b69\u304f\u306a\u3069\u306e\u5927\u304d\u306a\u52d5\u304d\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\u58eb\uff08OT\uff09<\/strong>: \u624b\u5148\u306e\u4f7f\u3044\u65b9\u3084\u3001\u65e5\u5e38\u751f\u6d3b\uff08\u98df\u4e8b\u3001\u7740\u66ff\u3048\uff09\u306e\u5de5\u592b\u3092\u52a9\u3051\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u58eb\uff08ST\uff09<\/strong>: \u98f2\u307f\u8fbc\u307f\u306e\u8a13\u7df4\u3084\u3001\u8a00\u8449\u306e\u7372\u5f97\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u65b9\u6cd5\uff08\u7d75\u30ab\u30fc\u30c9\u306e\u6d3b\u7528\u306a\u3069\uff09\u3092\u652f\u63f4\u3057\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%97%A9%E6%9C%9F%E7%99%82%E8%82%B2%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\"><\/span><strong>\u65e9\u671f\u7642\u80b2\u306e\u91cd\u8981\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8133\u304c\u67d4\u8edf\u306a\u4e73\u5e7c\u5150\u671f\u304b\u3089\u9069\u5207\u306a\u523a\u6fc0\u3092\u4e0e\u3048\u308b\u3053\u3068\u3067\u3001\u767a\u9054\u3092\u4fc3\u9032\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u611f\u899a\u7d71\u5408<\/strong>: \u63fa\u308c\u3084\u89e6\u899a\u306a\u3069\u3001\u3055\u307e\u3056\u307e\u306a\u611f\u899a\u3092\u8133\u3067\u6b63\u3057\u304f\u51e6\u7406\u3059\u308b\u7df4\u7fd2\u3002<\/li>\n\n\n\n<li><strong>\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3<\/strong>: \u8a00\u8449\u304c\u51fa\u306b\u304f\u3044\u5834\u5408\u3067\u3082\u3001\u30b5\u30a4\u30f3\u3084\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u3092\u4f7f\u3046\u3053\u3068\u3067\u3001\u81ea\u5206\u306e\u610f\u601d\u3092\u4f1d\u3048\u308b\u559c\u3073\u3092\u5b66\u3073\u3001\u4e8c\u6b21\u7684\u306a\u30d1\u30cb\u30c3\u30af\u3084\u30b9\u30c8\u30ec\u30b9\u3092\u9632\u304e\u307e\u3059\u3002<\/li>\n<\/ul>\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%A8%E7%A6%8F%E7%A5%89%E3%81%AE%E6%B4%BB%E7%94%A8\"><\/span><strong>\u5b66\u6821\u751f\u6d3b\u3068\u798f\u7949\u306e\u6d3b\u7528<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7279\u5225\u652f\u63f4\u6559\u80b2<\/strong>: \u500b\u5225\u306e\u6559\u80b2\u652f\u63f4\u8a08\u753b\u306b\u57fa\u3065\u304d\u3001\u5c11\u4eba\u6570\u306e\u624b\u539a\u3044\u74b0\u5883\u3067\u5b66\u7fd2\u3084\u751f\u6d3b\u30b9\u30ad\u30eb\u3092\u5b66\u3073\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u798f\u7949\u30b5\u30fc\u30d3\u30b9<\/strong>: \u7642\u80b2\u624b\u5e33\u306e\u53d6\u5f97\u306b\u3088\u308a\u3001\u969c\u5bb3\u5150\u901a\u6240\u652f\u63f4\uff08\u653e\u8ab2\u5f8c\u7b49\u30c7\u30a4\u30b5\u30fc\u30d3\u30b9\u306a\u3069\uff09\u3084\u3001\u798f\u7949\u7528\u5177\u306e\u88dc\u52a9\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>6. \u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>8q\u67d3\u8272\u4f53\u91cd\u8907\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066\u3001\u899a\u3048\u3066\u304a\u3044\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u30dd\u30a4\u30f3\u30c8\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u500b\u4eba\u5dee\u304c\u975e\u5e38\u306b\u5927\u304d\u3044<\/strong>: \u91cd\u8907\u306e\u7bc4\u56f2\u306b\u3088\u3063\u3066\u75c7\u72b6\u306f\u7570\u306a\u308a\u307e\u3059\u3002\u4ed6\u306e\u5b50\u306e\u4e8b\u4f8b\u3068\u6bd4\u8f03\u3057\u3059\u304e\u305a\u3001\u76ee\u306e\u524d\u306e\u304a\u5b50\u69d8\u306e\u6b69\u307f\u3092\u898b\u5b88\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30c1\u30fc\u30e0\u3067\u306e\u80b2\u5150<\/strong>: \u533b\u7642\u3001\u7642\u80b2\u3001\u6559\u80b2\u3001\u305d\u3057\u3066\u798f\u7949\u3002\u591a\u304f\u306e\u5c02\u9580\u5bb6\u3092\u5473\u65b9\u306b\u3064\u3051\u3066\u3001\u5bb6\u65cf\u3060\u3051\u3067\u62b1\u3048\u8fbc\u307e\u306a\u3044\u4f53\u5236\u3092\u4f5c\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n\n\n\n<li><strong>\u60c5\u5831\u3078\u306e\u30a2\u30af\u30bb\u30b9<\/strong>: \u5b9a\u671f\u7684\u306a\u8a3a\u5bdf\u3092\u53d7\u3051\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u6700\u65b0\u306e\u533b\u7642\u60c5\u5831\u3084\u3001\u540c\u3058\u75be\u60a3\u3092\u6301\u3064\u5bb6\u65cf\u4f1a\u3068\u3064\u306a\u304c\u308b\u3053\u3068\u3092\u691c\u8a0e\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n<\/ul>\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\u3092\u805e\u3044\u305f\u77ac\u9593\u3001\u76ee\u306e\u524d\u304c\u771f\u3063\u6697\u306b\u306a\u308b\u3088\u3046\u306a\u6c17\u6301\u3061\u3092\u7d4c\u9a13\u3055\u308c\u305f\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u3069\u3046\u304b\u5fd8\u308c\u306a\u3044\u3067\u304f\u3060\u3055\u3044\u3002\u304a\u5b50\u69d8\u306f\u300c\u67d3\u8272\u4f53\u306e\u756a\u53f7\u300d\u3067\u306f\u306a\u304f\u3001\u4e00\u4eba\u306e\u500b\u6027\u3092\u6301\u3063\u305f\u304b\u3051\u304c\u3048\u306e\u306a\u3044\u5b58\u5728\u3067\u3059\u3002<\/p>\n\n\n\n<p>8q\u91cd\u8907\u3092\u6301\u3064\u304a\u5b50\u69d8\u305f\u3061\u306f\u3001\u3086\u3063\u304f\u308a\u3067\u306f\u3042\u3063\u3066\u3082\u78ba\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002\u6628\u65e5\u307e\u3067\u3067\u304d\u306a\u304b\u3063\u305f\u3053\u3068\u304c\u3001\u3042\u308b\u65e5\u7a81\u7136\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308b\u3001\u305d\u306e\u559c\u3073\u3092\u5171\u306b\u5206\u304b\u3061\u5408\u3046\u6642\u9593\u306f\u3001\u4f55\u7269\u306b\u3082\u4ee3\u3048\u304c\u305f\u3044\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u3042\u306a\u305f\u81ea\u8eab\u306e\u30b1\u30a2\u3082\u5fd8\u308c\u306a\u3044\u3067\u304f\u3060\u3055\u3044\u3002 \u4f11\u606f\u3092\u3068\u308a\u3001\u5c02\u9580\u5bb6\u306e\u52a9\u3051\u3092\u501f\u308a\u308b\u3053\u3068\u306f\u3001\u6c7a\u3057\u3066\u304a\u5b50\u69d8\u3092\u653e\u308a\u51fa\u3059\u3053\u3068\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3042\u306a\u305f\u304c\u7b11\u9854\u3067\u3044\u3089\u308c\u308b\u3053\u3068\u304c\u3001\u304a\u5b50\u69d8\u306b\u3068\u3063\u3066\u3082\u6700\u5927\u306e\u5b89\u5fc3\u6750\u6599\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u305f\u3061\u306f\u3001\u3042\u306a\u305f\u3068\u304a\u5b50\u69d8\u306e\u6b69\u307f\u3092\u5fc3\u304b\u3089\u5fdc\u63f4\u3057\u3066\u3044\u307e\u3059\u3002\u4e00\u6b69\u305a\u3064\u3001\u4e00\u7dd2\u306b\u9032\u3093\u3067\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n","protected":false},"excerpt":{"rendered":"\u304a\u5b50\u69d8\u3084\u3054\u5bb6\u65cf\u304c\u300c8q\u67d3\u8272\u4f53\u91cd\u8907\u300d\u3068\u3044\u3046&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8q-duplication\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":121600,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-121723","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\/121723","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=121723"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121723\/revisions"}],"predecessor-version":[{"id":121727,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121723\/revisions\/121727"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/121600"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121723"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=121723"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=121723"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}