{"id":121679,"date":"2026-01-07T15:58:19","date_gmt":"2026-01-07T06:58:19","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121679"},"modified":"2026-01-07T15:58:21","modified_gmt":"2026-01-07T06:58:21","slug":"chromosome-7q-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/","title":{"rendered":"7\u756a\u67d3\u8272\u4f53\u9577\u8155\u6b20\u5931\u75c7\u5019\u7fa4\uff087q\u6b20\u5931\uff09"},"content":{"rendered":"\n<p>\u304a\u5b50\u3055\u3093\u3084\u3054\u5bb6\u65cf\u304c\u300c7q\u6b20\u5931\u300d\u3068\u3044\u3046\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u969b\u3001\u591a\u304f\u306e\u3054\u5bb6\u65cf\u306f\u300c\u3053\u308c\u304b\u3089\u3069\u3046\u306a\u308b\u306e\u304b\u300d\u300c\u4f55\u3092\u3057\u3066\u3042\u3052\u3089\u308c\u308b\u306e\u304b\u300d\u3068\u3044\u3046\u5927\u304d\u306a\u4e0d\u5b89\u306b\u76f4\u9762\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u975e\u5e38\u306b\u7a00\u306a\u5e0c\u5c11<a 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/#6_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E5%81%A5%E3%82%84%E3%81%8B%E3%81%AA%E6%88%90%E9%95%B7%E3%82%92%E6%94%AF%E3%81%88%E3%82%8B%E3%81%9F%E3%82%81%E3%81%AB\" >6. \u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u5065\u3084\u304b\u306a\u6210\u9577\u3092\u652f\u3048\u308b\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-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/#%E5%A4%9A%E8%81%B7%E7%A8%AE%E3%81%AB%E3%82%88%E3%82%8B%E9%80%A3%E6%90%BA%E3%83%81%E3%83%BC%E3%83%A0\" >\u591a\u8077\u7a2e\u306b\u3088\u308b\u9023\u643a\u30c1\u30fc\u30e0<\/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-7q-deletion-syndrome\/#%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%EF%BC%88%E7%99%82%E8%82%B2%EF%BC%89%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\" >\u767a\u9054\u652f\u63f4\uff08\u7642\u80b2\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-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/#7_%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\" >7. \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-7q-deletion-syndrome\/#8_%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\" >8. \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%8C%E6%AC%A0%E5%A4%B1%E3%80%8D%E3%81%AE%E4%BB%95%E7%B5%84%E3%81%BF\"><\/span><strong>\u67d3\u8272\u4f53\u3068\u300c\u6b20\u5931\u300d\u306e\u4ed5\u7d44\u307f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u79c1\u305f\u3061\u306e\u4f53\u306f\u7d0437\u5146\u500b\u306e\u7d30\u80de\u3067\u3067\u304d\u3066\u304a\u308a\u3001\u305d\u306e\u4e00\u3064\u3072\u3068\u3064\u306e\u6838\u306e\u4e2d\u306b\u3001\u4f53\u306e\u8a2d\u8a08\u56f3\u3067\u3042\u308b\u300c\u907a\u4f1d\u5b50\u300d\u304c\u53ce\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u3092\u675f\u306d\u3066\u3044\u308b\u69cb\u9020\u4f53\u304c**\u67d3\u8272\u4f53\uff08\u305b\u3093\u3057\u3087\u304f\u305f\u3044\uff09**\u3067\u3059\u3002\u4eba\u9593\u306b\u306f23\u5bfe\uff08\u8a0846\u672c\uff09\u306e\u67d3\u8272\u4f53\u304c\u3042\u308a\u3001\u305d\u308c\u305e\u308c\u306b1\u756a\u304b\u308922\u756a\u307e\u3067\u306e\u756a\u53f7\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\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u308c\u305e\u308c\u306e\u67d3\u8272\u4f53\u306f\u3001\u4e2d\u5fc3\u306e\u304f\u3073\u308c\uff08\u4e2d\u5fc3\u7bc0\uff09\u3092\u5883\u306b\u3001\u77ed\u3044\u65b9\u3092\u300c\u77ed\u8155\uff08\u305f\u3093\u308f\u3093\uff1ap\uff09\u300d<strong>\u3001\u9577\u3044\u65b9\u3092<\/strong>\u300c\u9577\u8155\uff08\u3061\u3087\u3046\u308f\u3093\uff1aq\uff09\u300d\u3068\u547c\u3073\u307e\u3059\u3002 \u300c7q\u6b20\u5931\u300d\u3068\u306f\u30017\u756a\u76ee\u306e\u67d3\u8272\u4f53\u306e\u9577\u3044\u65b9\u306e\u8155\uff08q\uff09\u306e\u4e00\u90e8\u304c\u3001\u4f55\u3089\u304b\u306e\u7406\u7531\u3067\u5931\u308f\u308c\u3066\u3044\u308b\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7q%E6%AC%A0%E5%A4%B1%E3%81%8C%E5%A4%9A%E6%A7%98%E3%81%A7%E3%81%82%E3%82%8B%E7%90%86%E7%94%B1\"><\/span><strong>7q\u6b20\u5931\u304c\u591a\u69d8\u3067\u3042\u308b\u7406\u7531<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e00\u53e3\u306b\u300c7q\u6b20\u5931\u300d\u3068\u8a00\u3063\u3066\u3082\u3001\u5931\u308f\u308c\u308b\u5834\u6240\u3084\u7bc4\u56f2\u306f\u4e00\u4eba\u3072\u3068\u308a\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u672b\u7aef\u6b20\u5931\uff08\u307e\u3063\u305f\u3093\u3051\u3063\u3057\u3064\uff09\uff1a<\/strong> \u67d3\u8272\u4f53\u306e\u5148\u7aef\u90e8\u5206\u304c\u5931\u308f\u308c\u308b\u3082\u306e\u3002<\/li>\n\n\n\n<li><strong>\u9593\u8cea\u6027\u6b20\u5931\uff08\u304b\u3093\u3057\u3064\u305b\u3044\u3051\u3063\u3057\u3064\uff09\uff1a<\/strong> \u67d3\u8272\u4f53\u306e\u9014\u4e2d\u306e\u90e8\u5206\u304c\u5931\u308f\u308c\u308b\u3082\u306e\u3002<\/li>\n<\/ul>\n\n\n\n<p>7\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306b\u306f\u3001\u8133\u306e\u767a\u9054\u3001\u624b\u8db3\u306e\u5f62\u6210\u3001\u8a00\u8449\u306e\u7fd2\u5f97\u3001\u5185\u81d3\u306e\u50cd\u304d\u306a\u3069\u306b\u95a2\u308f\u308b\u591a\u304f\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u300c\u3069\u306e\u5730\u70b9\u306e\u907a\u4f1d\u5b50\u304c\u5931\u308f\u308c\u305f\u304b\u300d\u306b\u3088\u3063\u3066\u3001\u73fe\u308c\u308b\u75c7\u72b6\u3084\u767a\u9054\u306e\u30da\u30fc\u30b9\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u306e\u304c\u3053\u306e\u75be\u60a3\u306e\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%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>7q\u6b20\u5931\u3067\u898b\u3089\u308c\u308b\u75c7\u72b6\u306f\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u304c\u3001\u3053\u3053\u3067\u306f\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u4ee3\u8868\u7684\u306a\u7279\u5fb4\u3092\u6319\u3052\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u3059\u3079\u3066\u306e\u4eba\u306b\u73fe\u308c\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u6b20\u5931\u306e\u9818\u57df\u306b\u3088\u3063\u3066\u5f37\u5f31\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C%E3%81%A8%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3\"><\/span><strong>\u2460 \u767a\u9054\u306e\u9045\u308c\u3068\u77e5\u7684\u969c\u5bb3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6700\u3082\u591a\u304f\u898b\u3089\u308c\u308b\u7279\u5fb4\u306f\u3001\u5168\u4f53\u7684\u306a\u767a\u9054\u306e\u3086\u3063\u304f\u308a\u3055\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u904b\u52d5\u767a\u9054\uff1a<\/strong> \u9996\u306e\u5ea7\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u306a\u3069\u306e\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u9032\u307f\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u7b4b\u8089\u306e\u5f35\u308a\u304c\u5c11\u3057\u5f31\u3044\u300c\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u304d\u3093\u304d\u3093\u3061\u3087\u3046\u3066\u3044\u304b\uff09\u300d\u304c\u80cc\u666f\u306b\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u767a\u9054\uff1a<\/strong> \u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u5834\u5408\u3067\u5b66\u7fd2\u4e0a\u306e\u914d\u616e\u3084\u500b\u5225\u306e\u652f\u63f4\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\uff1a<\/strong> \u8a00\u8449\u306e\u7406\u89e3\u3084\u8868\u51fa\uff08\u8a71\u3059\u3053\u3068\uff09\u306b\u6642\u9593\u304c\u304b\u304b\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E7%AB%8B%E3%81%A1%EF%BC%88%E9%A1%94%E8%B2%8C%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%89\"><\/span><strong>\u2461 \u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\uff08\u9854\u8c8c\u7684\u7279\u5fb4\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u67d3\u8272\u4f53\u306e\u5909\u5316\u306f\u3001\u9854\u306e\u5f62\u6210\u306b\u3082\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u533b\u5b66\u7684\u306b\u306f\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u304c\u3001\u304a\u5b50\u3055\u3093\u81ea\u8eab\u306e\u500b\u6027\u306e\u4e00\u90e8\u3067\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8033\u306e\u5f62\u3084\u4f4d\u7f6e\uff1a<\/strong> \u8033\u306e\u4f4d\u7f6e\u304c\u5c11\u3057\u4f4e\u304b\u3063\u305f\u308a\u3001\u5f62\u304c\u308f\u305a\u304b\u306b\u7570\u306a\u3063\u305f\u308a\u3059\u308b\u3002<\/li>\n\n\n\n<li><strong>\u773c\u9593\u89e3\u96e2\uff08\u304c\u3093\u304b\u3093\u304b\u3044\u308a\uff09\uff1a<\/strong> \u4e21\u76ee\u306e\u9593\u9694\u304c\u5c11\u3057\u96e2\u308c\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u5e83\u3044\u3044\u3067\u3053\uff08\u524d\u982d\u90e8\u306e\u7a81\u51fa\uff09\uff1a<\/strong> \u304a\u3067\u3053\u304c\u5c11\u3057\u5e83\u304f\u3001\u524d\u306b\u51fa\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u9f3b\u306e\u5f62\uff1a<\/strong> \u9f3b\u7b4b\u304c\u4f4e\u3081\u3067\u3042\u3063\u305f\u308a\u3001\u9f3b\u5148\u304c\u4e38\u307f\u3092\u5e2f\u3073\u3066\u3044\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E6%89%8B%E8%B6%B3%E3%81%AE%E7%95%B0%E5%B8%B8%EF%BC%88%E9%AA%A8%E6%A0%BC%E7%B3%BB%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%89\"><\/span><strong>\u2462 \u624b\u8db3\u306e\u7570\u5e38\uff08\u9aa8\u683c\u7cfb\u306e\u7279\u5fb4\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>7q\u306e\u7279\u5b9a\u306e\u9818\u57df\uff08\u7279\u306b7q21\u5468\u8fba\uff09\u304c\u6b20\u5931\u306b\u542b\u307e\u308c\u308b\u5834\u5408\u3001\u624b\u8db3\u306e\u5f62\u306b\u7279\u5fb4\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u591a\u6307\u75c7\u30fb\u5408\u6307\u75c7\uff1a<\/strong> \u6307\u306e\u6570\u304c\u591a\u304b\u3063\u305f\u308a\u3001\u96a3\u306e\u6307\u3068\u304f\u3063\u3064\u3044\u3066\u3044\u305f\u308a\u3059\u308b\u3002<\/li>\n\n\n\n<li><strong>\u88c2\u624b\u30fb\u88c2\u8db3\uff08\u308c\u3063\u3057\u3085\u30fb\u308c\u3063\u305d\u304f\uff09\uff1a<\/strong> \u624b\u3084\u8db3\u306e\u4e2d\u592e\u90e8\u5206\u304c\u6b20\u640d\u3057\u3001V\u5b57\u578b\u306b\u898b\u3048\u308b\u72b6\u614b\u3002<\/li>\n\n\n\n<li><strong>\u4e09\u7bc0\u6bcd\u6307\uff1a<\/strong> \u89aa\u6307\u306e\u9aa8\u304c\u901a\u5e38\u3088\u308a\u4e00\u3064\u591a\u304f\u3001\u4ed6\u306e\u6307\u306e\u3088\u3046\u306b\u898b\u3048\u308b\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A3_%E5%86%85%E8%87%93%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\"><\/span><strong>\u2463 \u5185\u81d3\u306e\u5408\u4f75\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff1a<\/strong> \u5fc3\u81d3\u306e\u58c1\u306b\u7a74\u304c\u958b\u3044\u3066\u3044\u308b\uff08\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u306a\u3069\uff09\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6ccc\u5c3f\u751f\u6b96\u5668\u306e\u7570\u5e38\uff1a<\/strong> \u814e\u81d3\u306e\u5f62\u3084\u3001\u7537\u306e\u5b50\u306e\u5834\u5408\u306f\u7cbe\u5de3\u306e\u4f4d\u7f6e\uff08\u505c\u7559\u7cbe\u5de3\uff09\u306b\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6210\u9577\u969c\u5bb3\uff1a<\/strong> \u6210\u9577\u30db\u30eb\u30e2\u30f3\u306e\u5206\u6ccc\u306b\u95a2\u9023\u3057\u3001\u8eab\u9577\u306e\u4f38\u3073\u304c\u7de9\u3084\u304b\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E6%AC%A0%E5%A4%B1%E9%83%A8%E4%BD%8D%E3%81%AB%E3%82%88%E3%82%8B%E7%89%B9%E5%AE%9A%E3%81%AE%E7%97%87%E5%80%99%E7%BE%A4\"><\/span><strong>3. \u6b20\u5931\u90e8\u4f4d\u306b\u3088\u308b\u7279\u5b9a\u306e\u75c7\u5019\u7fa4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>7q\u6b20\u5931\u306e\u4e2d\u3067\u3082\u3001\u7279\u306b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u308b\u9818\u57df\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7q1123%E6%AC%A0%E5%A4%B1%EF%BC%88%E3%82%A6%E3%82%A3%E3%83%AA%E3%82%A2%E3%83%A0%E3%82%BA%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%89\"><\/span><strong>7q11.23\u6b20\u5931\uff08\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>7q\u6b20\u5931\u306e\u4e2d\u3067\u3082\u6700\u3082\u3088\u304f\u77e5\u3089\u308c\u3066\u3044\u308b\u306e\u304c\u30017q11.23\u3068\u3044\u3046\u9818\u57df\u304c\u5fae\u7d30\u306b\u6b20\u5931\u3059\u308b\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/\">\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4<\/a>\u300d\u3067\u3059\u3002\u975e\u5e38\u306b\u793e\u4ea4\u7684\u3067\u4eba\u61d0\u3063\u3053\u3044\u6027\u683c\u3001\u97f3\u697d\u3078\u306e\u95a2\u5fc3\u3001\u5fc3\u8840\u7ba1\u7cfb\u306e\u7279\u5fb4\u306a\u3069\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7q21%E6%AC%A0%E5%A4%B1%EF%BC%88%E8%A3%82%E6%89%8B%E3%83%BB%E8%A3%82%E8%B6%B3%E3%81%AB%E9%96%A2%E9%80%A3%EF%BC%89\"><\/span><strong>7q21\u6b20\u5931\uff08\u88c2\u624b\u30fb\u88c2\u8db3\u306b\u95a2\u9023\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u624b\u8db3\u306e\u5f62\u6210\u3092\u53f8\u308b\u907a\u4f1d\u5b50\u7fa4\u304c\u3042\u308a\u3001\u524d\u8ff0\u3057\u305f\u624b\u8db3\u306e\u5f62\u614b\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7q31%E6%AC%A0%E5%A4%B1%EF%BC%88%E8%A8%80%E8%AA%9E%E7%99%BA%E9%81%94%E3%81%AB%E9%96%A2%E9%80%A3%EF%BC%9AFOXP2%E9%81%BA%E4%BC%9D%E5%AD%90%EF%BC%89\"><\/span><strong>7q31\u6b20\u5931\uff08\u8a00\u8a9e\u767a\u9054\u306b\u95a2\u9023\uff1aFOXP2\u907a\u4f1d\u5b50\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>7q31\u9818\u57df\u306b\u306f\u3001\u8a00\u8449\u306e\u7fd2\u5f97\u306b\u6975\u3081\u3066\u91cd\u8981\u306a<strong>FOXP2\u907a\u4f1d\u5b50<\/strong>\u304c\u5b58\u5728\u3057\u307e\u3059\u3002\u3053\u3053\u304c\u6b20\u5931\u3059\u308b\u3068\u3001\u8a00\u8449\u3092\u6ed1\u3089\u304b\u306b\u8a71\u3059\u3053\u3068\u304c\u96e3\u3057\u3044\u300c\u767a\u8a9e\u5931\u884c\uff08\u306f\u3064\u3054\u3057\u3063\u3053\u3046\uff09\u300d\u306a\u3069\u306e\u9855\u8457\u306a\u8a00\u8a9e\u969c\u5bb3\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7q36%E6%AC%A0%E5%A4%B1%EF%BC%88SHH%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E5%85%A8%E5%89%8D%E8%84%B3%E8%83%9E%E7%97%87%EF%BC%89\"><\/span><strong>7q36\u6b20\u5931\uff08SHH\u907a\u4f1d\u5b50\u3068\u5168\u524d\u8133\u80de\u75c7\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9577\u8155\u306e\u672b\u7aef\u306b\u8fd1\u30447q36\u9818\u57df\u306b\u306f\u3001\u8133\u3084\u9854\u306e\u4e2d\u5fc3\u90e8\u3092\u4f5c\u308b\u306e\u306b\u91cd\u8981\u306a<strong>SHH\uff08\u30bd\u30cb\u30c3\u30af\u30fb\u30d8\u30c3\u30b8\u30db\u30c3\u30b0\uff09\u907a\u4f1d\u5b50<\/strong>\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u3053\u304c\u5931\u308f\u308c\u308b\u3068\u3001\u8133\u306e\u5f62\u6210\u4e0d\u5168\uff08\u5168\u524d\u8133\u80de\u75c7\uff09\u3084\u3001\u91cd\u5ea6\u306e\u9854\u9762\u5947\u5f62\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%93%E3%82%8B%E3%81%AE%E3%81%8B\"><\/span><strong>4. \u539f\u56e0\uff1a\u306a\u305c\u8d77\u3053\u308b\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u969b\u3001\u3054\u4e21\u89aa\u304c\u300c\u598a\u5a20\u4e2d\u306e\u884c\u52d5\u304c\u60aa\u304b\u3063\u305f\u306e\u3067\u306f\u306a\u3044\u304b\u300d\u3068\u81ea\u8cac\u306e\u5ff5\u306b\u99c6\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u305d\u308c\u306f<strong>\u660e\u78ba\u306a\u8aa4\u89e3<\/strong>\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>7q\u6b20\u5931\u306e\u591a\u304f\u306f\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\u521d\u671f\u6bb5\u968e\u3067\u3001\u5076\u767a\u7684\u306b\u767a\u751f\u3059\u308b\u300c\u7a81\u7136\u5909\u7570\u300d\u3067\u3059\u3002\u3053\u308c\u3092\u5c02\u9580\u7528\u8a9e\u3067<strong>de novo\uff08\u30c7\u30fb\u30ce\u30dc\uff09\u5909\u7570<\/strong>\u3068\u547c\u3073\u307e\u3059\u3002 \u3053\u308c\u306f\u8ab0\u306e\u8eab\u306b\u3082\u3001\u3069\u306e\u3088\u3046\u306a\u74b0\u5883\u3067\u3082\u4e00\u5b9a\u306e\u78ba\u7387\u3067\u8d77\u3053\u308a\u3046\u308b\u81ea\u7136\u306e\u4e8b\u8c61\u3067\u3059\u3002\u3054\u4e21\u89aa\u306e\u5e74\u9f62\u3001\u98df\u3079\u7269\u3001\u85ac\u306e\u670d\u7528\u3001\u30b9\u30c8\u30ec\u30b9\u306a\u3069\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%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\u304d\u3093\u3053\u3046\u304c\u305f\u3066\u3093\u3056\uff09\u300d\u3068\u3044\u3046\u72b6\u614b\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u3082\u306e\u306e\u3001\u907a\u4f1d\u60c5\u5831\u306e\u7dcf\u91cf\u306b\u904e\u4e0d\u8db3\u304c\u306a\u3044\u72b6\u614b\u3067\u3059\u3002 \u3054\u672c\u4eba\u306b\u306f\u75c7\u72b6\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u6b21\u4e16\u4ee3\u306b\u304a\u5b50\u3055\u3093\u304c\u751f\u307e\u308c\u308b\u969b\u3001\u4e00\u90e8\u306b\u6b20\u5931\u304c\u751f\u3058\u3066\u53d7\u3051\u7d99\u304c\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u53ef\u80fd\u6027\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u306f\u3001\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3068\u691c\u67fb\u306b\u3088\u3063\u3066\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>5. \u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306f\u3001\u81e8\u5e8a\u7684\u306a\u75c7\u72b6\uff08\u5916\u898b\u3084\u767a\u9054\u306e\u69d8\u5b50\uff09\u3068\u3001\u7cbe\u5bc6\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E6%9F%93%E8%89%B2%E4%BD%93%E5%88%86%E6%9F%93%E6%B3%95%EF%BC%88G-%E3%83%90%E3%83%B3%E3%83%89%E6%B3%95%EF%BC%89\"><\/span><strong>\u2460 \u67d3\u8272\u4f53\u5206\u67d3\u6cd5\uff08G-\u30d0\u30f3\u30c9\u6cd5\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8840\u6db2\u4e2d\u306e\u7d30\u80de\u3092\u57f9\u990a\u3057\u3001\u9855\u5fae\u93e1\u3067\u67d3\u8272\u4f53\u306e\u6570\u3084\u5927\u307e\u304b\u306a\u5f62\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u6bd4\u8f03\u7684\u5927\u304d\u306a\u6b20\u5931\u3067\u3042\u308c\u3070\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=\"%E2%91%A1_FISH%EF%BC%88%E3%83%95%E3%82%A3%E3%83%83%E3%82%B7%E3%83%A5%EF%BC%89%E6%B3%95\"><\/span><strong>\u2461 FISH\uff08\u30d5\u30a3\u30c3\u30b7\u30e5\uff09\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u9818\u57df\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u3092\u3001\u5149\u308b\u8a66\u85ac\u3092\u4f7f\u3063\u3066\u30d4\u30f3\u30dd\u30a4\u30f3\u30c8\u3067\u78ba\u8a8d\u3059\u308b\u691c\u67fb\u3067\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/\">\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4<\/a>\u306a\u3069\u306e\u7591\u3044\u304c\u3042\u308b\u5834\u5408\u306b\u4f7f\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%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%88%E6%9F%93%E8%89%B2%E4%BD%93%E5%AE%9A%E9%87%8F%E7%9A%84%E6%A4%9C%E6%9F%BB%EF%BC%89\"><\/span><strong>\u2462 \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff08\u67d3\u8272\u4f53\u5b9a\u91cf\u7684\u691c\u67fb\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u73fe\u5728\u3001\u6700\u3082\u63a8\u5968\u3055\u308c\u308b\u9ad8\u7cbe\u5ea6\u306a\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7279\u5fb4\uff1a<\/strong> G-\u30d0\u30f3\u30c9\u6cd5\u3067\u306f\u898b\u3064\u3051\u3089\u308c\u306a\u3044\u3088\u3046\u306a\u3054\u304f\u5fae\u7d30\u306a\u6b20\u5931\uff08\u30de\u30a4\u30af\u30ed\u30c7\u30ea\u30fc\u30b7\u30e7\u30f3\uff09\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30e1\u30ea\u30c3\u30c8\uff1a<\/strong> \u300c\u3069\u306e\u907a\u4f1d\u5b50\u304c\u3001\u3069\u306e\u7bc4\u56f2\u3067\u5931\u308f\u308c\u3066\u3044\u308b\u304b\u300d\u3092\u8a73\u7d30\u306a\u30c7\u30fc\u30bf\u3068\u3057\u3066\u5f97\u3089\u308c\u308b\u305f\u3081\u3001\u5c06\u6765\u8d77\u3053\u308a\u3046\u308b\u5408\u4f75\u75c7\u306e\u4e88\u6e2c\u3084\u3001\u9069\u5207\u306a\u7642\u80b2\u65b9\u91dd\u306e\u6c7a\u5b9a\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/11\/32627722_s.webp\" alt=\"\u533b\u8005\" class=\"wp-image-119511\"\/><\/figure><\/div>\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%E5%81%A5%E3%82%84%E3%81%8B%E3%81%AA%E6%88%90%E9%95%B7%E3%82%92%E6%94%AF%E3%81%88%E3%82%8B%E3%81%9F%E3%82%81%E3%81%AB\"><\/span><strong>6. \u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u5065\u3084\u304b\u306a\u6210\u9577\u3092\u652f\u3048\u308b\u305f\u3081\u306b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u5728\u306e\u533b\u5b66\u3067\u306f\u3001\u5931\u308f\u308c\u305f\u67d3\u8272\u4f53\u305d\u306e\u3082\u306e\u3092\u5143\u306b\u623b\u3059\u300c\u6839\u6cbb\u7684\u306a\u6cbb\u7642\u6cd5\u300d\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001<strong>\u500b\u3005\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u9069\u5207\u306a\u30b1\u30a2\uff08\u5bfe\u75c7\u7642\u6cd5\uff09\u3068\u65e9\u671f\u306e\u4ecb\u5165\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u53ef\u80fd\u6027\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\u3053\u3068\u304c\u3067\u304d\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%E3%81%AB%E3%82%88%E3%82%8B%E9%80%A3%E6%90%BA%E3%83%81%E3%83%BC%E3%83%A0\"><\/span><strong>\u591a\u8077\u7a2e\u306b\u3088\u308b\u9023\u643a\u30c1\u30fc\u30e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>7q\u6b20\u5931\u306e\u304a\u5b50\u3055\u3093\u306e\u30b1\u30a2\u306b\u306f\u3001\u591a\u304f\u306e\u5c02\u9580\u5bb6\u304c\u9023\u643a\u3057\u3066\u95a2\u308f\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u5150\u79d1\uff08\u907a\u4f1d\u5916\u6765\uff09\uff1a<\/strong> \u5168\u4f53\u7684\u306a\u767a\u80b2\u306e\u7ba1\u7406\u3068\u3001\u5404\u8a3a\u7642\u79d1\u306e\u6a4b\u6e21\u3057\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u79d1\uff08PT\/OT\/ST\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\uff1a<\/strong> \u30cf\u30a4\u30cf\u30a4\u3084\u6b69\u884c\u306a\u3069\u306e\u7c97\u5927\u904b\u52d5\u3092\u52a9\u3051\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\uff1a<\/strong> \u624b\u5148\u306e\u52d5\u304d\u3084\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u3092\u7df4\u7fd2\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a<\/strong> \u8a00\u8449\u306e\u7406\u89e3\u3084\u767a\u4fe1\u3001\u305d\u3057\u3066\u300c\u98df\u3079\u308b\u529b\uff08\u56a5\u4e0b\uff09\u300d\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1\uff1a<\/strong> \u624b\u8db3\u306e\u5f62\u614b\u306b\u7279\u5fb4\u304c\u3042\u308b\u5834\u5408\u3001\u6a5f\u80fd\u7dad\u6301\u306e\u305f\u3081\u306e\u624b\u8853\u3084\u88c5\u5177\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u30fb\u8033\u9f3b\u79d1\uff1a<\/strong> \u659c\u8996\u3084\u96e3\u8074\u306e\u6709\u7121\u3092\u5b9a\u671f\u7684\u306b\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%EF%BC%88%E7%99%82%E8%82%B2%EF%BC%89%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\"><\/span><strong>\u767a\u9054\u652f\u63f4\uff08\u7642\u80b2\uff09\u306e\u91cd\u8981\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u300c\u7642\u80b2\u300d\u3068\u306f\u3001\u304a\u5b50\u3055\u3093\u306e\u767a\u9054\u6bb5\u968e\u306b\u5408\u308f\u305b\u305f\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\u3092\u884c\u3044\u3001\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u308a\u3084\u3059\u304f\u3059\u308b\u305f\u3081\u306e\u652f\u63f4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u500b\u5225\u652f\u63f4\u8a08\u753b\uff1a<\/strong> \u5712\u3084\u5b66\u6821\u3068\u9023\u643a\u3057\u3001\u60c5\u5831\u306e\u8996\u899a\u5316\uff08\u7d75\u30ab\u30fc\u30c9\u306e\u4f7f\u7528\u306a\u3069\uff09\u3084\u3001\u843d\u3061\u7740\u3051\u308b\u74b0\u5883\u4f5c\u308a\u3092\u4f9d\u983c\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff1a<\/strong> \u8a00\u8449\u3067\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\u3001\u30b5\u30a4\u30f3\u3084\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u3092\u4f7f\u3063\u305f\u610f\u601d\u4f1d\u9054\u3092\u7a4d\u6975\u7684\u306b\u53d6\u308a\u5165\u308c\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u30d5\u30e9\u30b9\u30c8\u30ec\u30fc\u30b7\u30e7\u30f3\u3092\u6e1b\u3089\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%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>7. \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<ol class=\"wp-block-list\">\n<li><strong>\u500b\u5225\u6027\u304c\u6975\u3081\u3066\u5f37\u3044\uff1a<\/strong> \u300c7q\u6b20\u5931\u300d\u3068\u3044\u3046\u540d\u524d\u304c\u540c\u3058\u3067\u3082\u3001\u75c7\u72b6\u306f\u4e00\u4eba\u3072\u3068\u308a\u7570\u306a\u308a\u307e\u3059\u3002\u6559\u79d1\u66f8\u901a\u308a\u306e\u75c7\u72b6\u304c\u3059\u3079\u3066\u51fa\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u3086\u3063\u304f\u308a\u7740\u5b9f\u306b\u6210\u9577\u3059\u308b\uff1a<\/strong> \u4ed6\u306e\u5b50\u3068\u6bd4\u3079\u308b\u306e\u3067\u306f\u306a\u304f\u3001\u305d\u306e\u5b50\u81ea\u8eab\u306e\u300c\u6628\u65e5\u3068\u306e\u9055\u3044\u300d\u3092\u898b\u3064\u3081\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u65e9\u671f\u4ecb\u5165\u306e\u52b9\u679c\uff1a<\/strong> \u65e9\u304f\u304b\u3089\u30ea\u30cf\u30d3\u30ea\u3084\u7642\u80b2\u306b\u53d6\u308a\u7d44\u3080\u3053\u3068\u3067\u3001\u5c06\u6765\u306e\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u304c\u5927\u304d\u304f\u5411\u4e0a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u7684\u306a\u533b\u5b66\u7684\u30c1\u30a7\u30c3\u30af\uff1a<\/strong> \u6b20\u5931\u9818\u57df\u306b\u3088\u3063\u3066\u306f\u5185\u81d3\u3084\u611f\u899a\u5668\u306e\u5408\u4f75\u75c7\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u304c\u3001\u5b9a\u671f\u53d7\u8a3a\u3067\u9069\u5207\u306b\u7ba1\u7406\u53ef\u80fd\u3067\u3059\u3002<\/li>\n<\/ol>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%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>8. \u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u540d\u3092\u805e\u304b\u3055\u308c\u305f\u77ac\u9593\u3001\u76ee\u306e\u524d\u304c\u6697\u304f\u306a\u308a\u3001\u5c06\u6765\u3078\u306e\u5e0c\u671b\u304c\u898b\u3048\u306a\u304f\u306a\u308b\u3088\u3046\u306a\u6c17\u6301\u3061\u306b\u306a\u3089\u308c\u305f\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u3069\u3046\u304b\u77e5\u3063\u3066\u304a\u3044\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p><strong>\u304a\u5b50\u3055\u3093\u306f\u3001\u67d3\u8272\u4f53\u306e\u756a\u53f7\u3060\u3051\u3067\u6c7a\u307e\u308b\u5b58\u5728\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong><\/p>\n\n\n\n<p>7q\u6b20\u5931\u306e\u304a\u5b50\u3055\u3093\u305f\u3061\u3082\u3001\u5927\u597d\u304d\u306a\u98df\u3079\u7269\u304c\u3042\u308a\u3001\u697d\u3057\u3044\u3053\u3068\u3067\u7b11\u3044\u3001\u5bb6\u65cf\u3068\u306e\u89e6\u308c\u5408\u3044\u3092\u559c\u3076\u3001\u8c4a\u304b\u3067\u304b\u3051\u304c\u3048\u306e\u306a\u3044\u500b\u6027\u3092\u6301\u3063\u305f\u4e00\u4eba\u306e\u4eba\u9593\u3067\u3059\u3002\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u3068\u3044\u3046\u3053\u3068\u306f\u3001\u305d\u306e\u5206\u3001\u304a\u5b50\u3055\u3093\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u4e00\u3064\u3072\u3068\u3064\u306e\u300c\u3067\u304d\u305f\uff01\u300d\u3092\u3001\u3088\u308a\u6df1\u304f\u3001\u9577\u304f\u5bb6\u65cf\u3067\u559c\u3079\u308b\u3068\u3044\u3046\u3053\u3068\u3067\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308b\u304c\u3086\u3048\u306b\u3001\u8eab\u8fd1\u306b\u540c\u3058\u60a9\u307f\u3092\u6301\u3064\u4eba\u304c\u304a\u3089\u305a\u3001\u5b64\u72ec\u3092\u611f\u3058\u308b\u3053\u3068\u3082\u3042\u308b\u3067\u3057\u3087\u3046\u3002\u3057\u304b\u3057\u3001\u65e5\u672c\u4e2d\u3001\u305d\u3057\u3066\u4e16\u754c\u4e2d\u306b\u540c\u30587\u756a\u67d3\u8272\u4f53\u306e\u7279\u6027\u3068\u5171\u306b\u6b69\u3093\u3067\u3044\u308b\u5bb6\u65cf\u304c\u3044\u307e\u3059\u3002 \u8fd1\u5e74\u306f\u3001SNS\u3084\u5bb6\u65cf\u4f1a\u3001\u3042\u308b\u3044\u306f\u300cUnique &#8211; The Rare Chromosome Disorder Group\u300d\u3068\u3044\u3063\u305f\u56fd\u969b\u7684\u306a\u7814\u7a76\u56e3\u4f53\u3092\u901a\u3058\u3066\u3001\u4e16\u754c\u4e2d\u306e\u77e5\u898b\u3084\u7d4c\u9a13\u3092\u5171\u6709\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u304c\u300c\u4eca\u3067\u304d\u308b\u3053\u3068\u300d\u3092\u4e00\u3064\u3072\u3068\u3064\u7a4d\u307f\u91cd\u306d\u3066\u3044\u304f\u3053\u3068\u304c\u3001\u304a\u5b50\u3055\u3093\u306b\u3068\u3063\u3066\u306e\u6700\u5927\u306e\u6804\u990a\u306b\u306a\u308a\u307e\u3059\u3002\u3082\u3057\u8ff7\u3063\u305f\u308a\u75b2\u308c\u305f\u308a\u3057\u305f\u3068\u304d\u306f\u3001\u4e3b\u6cbb\u533b\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3001\u5730\u57df\u306e\u76f8\u8ac7\u652f\u63f4\u54e1\u3092\u983c\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306e\u6b69\u307f\u306f\u3001\u3042\u306a\u305f\u3068\u306e\u7d46\u3092\u6df1\u3081\u308b\u5927\u5207\u306a\u6642\u9593\u3067\u3059\u3002\u79c1\u305f\u3061\u306f\u3001\u3042\u306a\u305f\u3068\u304a\u5b50\u3055\u3093\u306e\u672a\u6765\u304c\u3001\u591a\u304f\u306e\u7406\u89e3\u3068\u512a\u3057\u3055\u306b\u5305\u307e\u308c\u308b\u3053\u3068\u3092\u5fc3\u304b\u3089\u9858\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n","protected":false},"excerpt":{"rendered":"\u304a\u5b50\u3055\u3093\u3084\u3054\u5bb6\u65cf\u304c\u300c7q\u6b20\u5931\u300d\u3068\u3044\u3046\u8a3a\u65ad&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":121534,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-121679","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\/121679","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=121679"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121679\/revisions"}],"predecessor-version":[{"id":121685,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121679\/revisions\/121685"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/121534"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121679"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=121679"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=121679"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}