{"id":121676,"date":"2026-01-07T15:56:49","date_gmt":"2026-01-07T06:56:49","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121676"},"modified":"2026-01-07T17:50:13","modified_gmt":"2026-01-07T08:50:13","slug":"chromosome-xq21-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq21-deletion-syndrome\/","title":{"rendered":"\u67d3\u8272\u4f53Xq21\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066"},"content":{"rendered":"<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"585\" src=\"\/nipt\/wp-content\/uploads\/2025\/11\/image-91-1024x585.webp\" alt=\"\" class=\"wp-image-119789\"\/><\/figure><\/div>\n\n\n<p>\u304a\u5b50\u69d8\u304c\u300c\u67d3\u8272\u4f53Xq21\u6b20\u5931\u75c7\u5019\u7fa4\uff08Chromosome Xq21 deletion syndrome\uff09\u300d\u3001\u3042\u308b\u3044\u306f\u3053\u308c\u306b\u95a2\u9023\u3059\u308b\u8a3a\u65ad\uff08\u30b3\u30ed\u30a4\u30c7\u30ec\u30df\u30a2\u3001X\u9023\u9396\u6027\u96e3\u8074\u306a\u3069\uff09\u3092\u53d7\u3051\u3089\u308c\u305f\u3054\u5bb6\u65cf\u306e\u7686\u69d8\u3078\u3002<\/p>\n\n\n\n<p>\u67d3\u8272\u4f53\u306e\u75c5\u6c17\u3068\u3044\u3046\u8a3a\u65ad\u3092\u53d7\u3051\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u533b\u5b66\u7528\u8a9e\u3084\u5c06\u6765\u3078\u306e\u4e0d\u5b89\u306b\u62bc\u3057\u3064\u3076\u3055\u308c\u305d\u3046\u306a\u6c17\u6301\u3061\u3067\u3044\u3089\u3063\u3057\u3083\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u30da\u30fc\u30b8\u3067\u306f\u3001Xq21\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u306a\u306e\u304b\u3001\u306a\u305c\u8d77\u3053\u308b\u306e\u304b\u3001\u305d\u3057\u3066\u65e5\u5e38\u751f\u6d3b\u3067\u3069\u306e\u3088\u3046\u306a\u70b9\u306b\u6c17\u3092\u3064\u3051\u3066\u3044\u3051\u3070\u3088\u3044\u306e\u304b\u3092\u3001\u3067\u304d\u308b\u3060\u3051\u5206\u304b\u308a\u3084\u3059\u3044\u8a00\u8449\u3067\u4e01\u5be7\u306b\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u975e\u5e38\u306b\u7a00\u3067\u3059\u304c\u3001\u533b\u5b66\u7684\u306a\u7406\u89e3\u306f\u9032\u3093\u3067\u304a\u308a\u3001\u9069\u5207\u306a\u7ba1\u7406\u3092\u884c\u3046\u3053\u3068\u3067\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u7dad\u6301\u30fb\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u3053\u306e\u60c5\u5831\u304c\u3001\u304a\u5b50\u69d8\u306e\u7406\u89e3\u3068\u3001\u3053\u308c\u304b\u3089\u306e\u6b69\u307f\u306e\u7f85\u91dd\u76e4\u3068\u306a\u308b\u3053\u3068\u3092\u9858\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_82_2 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq21-deletion-syndrome\/#3_%E5%8E%9F%E5%9B%A0%EF%BC%9A%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0\" >3. \u539f\u56e0\uff1a\u907a\u4f1d\u5b50\u306e\u30e1\u30ab\u30cb\u30ba\u30e0<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq21-deletion-syndrome\/#%E3%81%AA%E3%81%9C%E6%AC%A0%E5%A4%B1%E3%81%8C%E8%B5%B7%E3%81%93%E3%82%8B%E3%81%AE%E3%81%8B\" >\u306a\u305c\u6b20\u5931\u304c\u8d77\u3053\u308b\u306e\u304b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq21-deletion-syndrome\/#%E9%81%BA%E4%BC%9D%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6%EF%BC%88X%E9%80%A3%E9%8E%96%E6%80%A7%E9%81%BA%E4%BC%9D%EF%BC%89\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq21-deletion-syndrome\/#7_%E3%81%BE%E3%81%A8%E3%82%81\" >7. \u307e\u3068\u3081<\/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-xq21-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=\"%E7%97%85%E6%B0%97%E3%81%AE%E6%AD%A3%E4%BD%93\"><\/span><strong>\u75c5\u6c17\u306e\u6b63\u4f53<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u67d3\u8272\u4f53Xq21\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u3092\u6c7a\u3081\u308b\u67d3\u8272\u4f53\u3067\u3042\u308b\u300cX\u67d3\u8272\u4f53\uff08\u30a8\u30c3\u30af\u30b9\u305b\u3093\u3057\u3087\u304f\u305f\u3044\uff09\u300d\u306e\u4e00\u90e8\u304c\u6b20\u3051\u3066\u3044\u308b\uff08\u6b20\u5931\u3057\u3066\u3044\u308b\uff09\u3053\u3068\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u305f\u3061\u306e\u4f53\u306b\u306f\u3001\u907a\u4f1d\u60c5\u5831\u304c\u8a70\u307e\u3063\u305f\u67d3\u8272\u4f53\u304c46\u672c\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u3046\u3061\u306e1\u672c\u3067\u3042\u308bX\u67d3\u8272\u4f53\u306e\u3001\u300c\u9577\u8155\uff08\u9577\u3044\u65b9\u306e\u8155\uff09\u300d\u306e\u300cq21\u300d\u3068\u3044\u3046\u7279\u5b9a\u306e\u4f4f\u6240\u306b\u3042\u308b\u907a\u4f1d\u5b50\u304c\u307e\u3068\u3081\u3066\u5931\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%80%8C%E9%9A%A3%E6%8E%A5%E9%81%BA%E4%BC%9D%E5%AD%90%E7%97%87%E5%80%99%E7%BE%A4%E3%80%8D%E3%81%A8%E3%81%84%E3%81%86%E6%A6%82%E5%BF%B5\"><\/span><strong>\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u6982\u5ff5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u3092\u7406\u89e3\u3059\u308b\u4e0a\u3067\u91cd\u8981\u306a\u30ad\u30fc\u30ef\u30fc\u30c9\u304c\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff08\u308a\u3093\u305b\u3064\u3044\u3067\u3093\u3057\u3057\u3087\u3046\u3053\u3046\u3050\u3093\uff09\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>q21\u3068\u3044\u3046\u5834\u6240\u306b\u306f\u3001\u76ee\u3084\u8033\u3001\u77e5\u80fd\u306a\u3069\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u96a3\u308a\u5408\u308f\u305b\u3067\u4e26\u3093\u3067\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3042\u308b\u4eba\u306fA\u3068\u3044\u3046\u907a\u4f1d\u5b50\u3060\u3051\u304c\u6b20\u3051\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li>\u3042\u308b\u4eba\u306fA\u3068B\u3068C\u304c\u307e\u3068\u3081\u3066\u6b20\u3051\u3066\u3044\u308b\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306b\u3001\u300c\u3069\u306e\u7bc4\u56f2\u307e\u3067\u6b20\u3051\u3066\u3044\u308b\u304b\u300d\u306b\u3088\u3063\u3066\u3001\u73fe\u308c\u308b\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u304c\u4e00\u4eba\u3072\u3068\u308a\u7570\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u3092\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3068\u547c\u3073\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u540c\u3058\u8a3a\u65ad\u540d\u3067\u3082\u75c7\u72b6\u306e\u91cd\u3055\u3084\u7a2e\u985e\u306b\u500b\u4eba\u5dee\u304c\u3042\u308b\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%B7%E6%80%A7%E3%81%A8%E5%A5%B3%E6%80%A7%E3%81%AE%E9%81%95%E3%81%84\"><\/span><strong>\u7537\u6027\u3068\u5973\u6027\u306e\u9055\u3044<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>X\u67d3\u8272\u4f53\u306b\u95a2\u308f\u308b\u75c5\u6c17\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7537\u6027\uff08XY\uff09\uff1a<\/strong> X\u67d3\u8272\u4f53\u30921\u672c\u3057\u304b\u6301\u3063\u3066\u3044\u306a\u3044\u305f\u3081\u3001\u6b20\u5931\u306e\u5f71\u97ff\u3092\u30c0\u30a4\u30ec\u30af\u30c8\u306b\u53d7\u3051\u3001\u75c7\u72b6\u304c\u306f\u3063\u304d\u308a\u3068\u73fe\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5973\u6027\uff08XX\uff09\uff1a<\/strong> X\u67d3\u8272\u4f53\u30922\u672c\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u7247\u65b9\u304c\u6b20\u5931\u3057\u3066\u3044\u3066\u3082\u3001\u3082\u3046\u7247\u65b9\u306e\u6b63\u5e38\u306aX\u67d3\u8272\u4f53\u304c\u6a5f\u80fd\u3092\u88dc\u3046\u305f\u3081\uff08\u4fdd\u56e0\u8005\uff09\u3001\u75c7\u72b6\u304c\u51fa\u306a\u3044\u304b\u3001\u51fa\u3066\u3082\u8efd\u3044\u5834\u5408\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u76ee\u306e\u75c7\u72b6\u306a\u3069\u306f\u5973\u6027\u3067\u3082\u73fe\u308c\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=\"2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%9A%E4%BD%95%E3%81%AB%E6%B0%97%E3%82%92%E3%81%A4%E3%81%91%E3%82%8B%E3%81%B9%E3%81%8D%E3%81%8B\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6\uff1a\u4f55\u306b\u6c17\u3092\u3064\u3051\u308b\u3079\u304d\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Xq21\u9818\u57df\u306b\u306f\u3001\u7279\u5b9a\u306e\u6a5f\u80fd\u3092\u6301\u3064\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u6b20\u5931\u7bc4\u56f2\u306b\u3088\u308a\u307e\u3059\u304c\u3001\u4ee5\u4e0b\u306e\u75c7\u72b6\u304c\u4ee3\u8868\u7684\u3067\u3059\u3002\u3053\u308c\u3089\u3059\u3079\u3066\u304c\u5fc5\u305a\u51fa\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E8%81%B4%E8%A6%9A%E9%9A%9C%E5%AE%B3%EF%BC%88%E9%9B%A3%E8%81%B4%EF%BC%89\"><\/span><strong>\u2460 \u8074\u899a\u969c\u5bb3\uff08\u96e3\u8074\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u304f\u3001\u6ce8\u610f\u304c\u5fc5\u8981\u306a\u75c7\u72b6\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u539f\u56e0\u907a\u4f1d\u5b50:<\/strong> <em>POU3F4<\/em> \u907a\u4f1d\u5b50\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5fb4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u751f\u307e\u308c\u3064\u304d\u3001\u3042\u308b\u3044\u306f\u5e7c\u5c11\u671f\u304b\u3089\u306e\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u306e\u96e3\u8074\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6df7\u5408\u6027\u96e3\u8074:<\/strong> \u97f3\u3092\u4f1d\u3048\u308b\u90e8\u5206\uff08\u4e2d\u8033\uff09\u3068\u3001\u97f3\u3092\u611f\u3058\u308b\u795e\u7d4c\u306e\u90e8\u5206\uff08\u5185\u8033\uff09\u306e\u4e21\u65b9\u306b\u539f\u56e0\u304c\u3042\u308b\u30bf\u30a4\u30d7\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3042\u3076\u307f\u9aa8\u306e\u56fa\u7740:<\/strong> \u8033\u306e\u5965\u306b\u3042\u308b\u5c0f\u3055\u306a\u9aa8\uff08\u3042\u3076\u307f\u9aa8\uff09\u304c\u52d5\u304b\u306a\u304f\u306a\u308b\u3053\u3068\u3067\u3001\u97f3\u304c\u4f1d\u308f\u308a\u306b\u304f\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u300cGusher\uff08\u30ac\u30c3\u30b7\u30e3\u30fc\uff09\u73fe\u8c61\u300d:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u306e\u75c7\u5019\u7fa4\u7279\u6709\u306e\u30ea\u30b9\u30af\u3068\u3057\u3066\u3001\u5185\u8033\u3068\u8133\u810a\u9ac4\u6db2\u306e\u901a\u308a\u9053\u304c\u7570\u5e38\u306b\u3064\u306a\u304c\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u624b\u8853\u306a\u3069\u3067\u8033\u306e\u5965\u3092\u958b\u3051\u305f\u969b\u306b\u3001\u6db2\u4f53\u304c\u5674\u304d\u51fa\u3057\u3066\u304f\u308b\uff08Gusher\uff09\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u3001<strong>\u8033\u306e\u624b\u8853\u3092\u3059\u308b\u969b\u306f\u4e8b\u524d\u306e\u614e\u91cd\u306a\u691c\u67fb\u304c\u4e0d\u53ef\u6b20<\/strong>\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E8%A6%96%E8%A6%9A%E9%9A%9C%E5%AE%B3%EF%BC%88%E3%82%B3%E3%83%AD%E3%82%A4%E3%83%87%E3%83%AC%E3%83%9F%E3%82%A2%EF%BC%89\"><\/span><strong>\u2461 \u8996\u899a\u969c\u5bb3\uff08\u30b3\u30ed\u30a4\u30c7\u30ec\u30df\u30a2\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u76ee\u306e\u7db2\u819c\u3084\u8108\u7d61\u819c\uff08\u307f\u3083\u304f\u3089\u304f\u307e\u304f\uff09\u3068\u3044\u3046\u90e8\u5206\u306b\u5f71\u97ff\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u539f\u56e0\u907a\u4f1d\u5b50:<\/strong> <em>CHM<\/em> \u907a\u4f1d\u5b50\uff08<em>REP1<\/em>\u3068\u3082\u547c\u3070\u308c\u307e\u3059\uff09\u3002<\/li>\n\n\n\n<li><strong>\u75c7\u72b6\uff08\u30b3\u30ed\u30a4\u30c7\u30ec\u30df\u30a2\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u591c\u76f2\uff08\u3084\u3082\u3046\uff09:<\/strong> \u6697\u3044\u3068\u3053\u308d\u3067\u898b\u3048\u306b\u304f\u304f\u306a\u308b\u75c7\u72b6\u304b\u3089\u59cb\u307e\u308a\u307e\u3059\uff08\u5e7c\u5c11\u671f\u301c\u5b66\u7ae5\u671f\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8996\u91ce\u72ed\u7a84\uff08\u3057\u3084\u304d\u3087\u3046\u3055\u304f\uff09:<\/strong> \u6210\u9577\u3068\u3068\u3082\u306b\u3001\u898b\u3048\u308b\u7bc4\u56f2\u304c\u5f90\u3005\u306b\u72ed\u304f\u306a\u3063\u3066\u3044\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8996\u529b\u4f4e\u4e0b:<\/strong> \u9577\u3044\u5e74\u6708\u3092\u304b\u3051\u3066\u9032\u884c\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5973\u6027\uff08\u4fdd\u56e0\u8005\uff09\u306e\u5834\u5408:<\/strong> \u8996\u529b\u306f\u4fdd\u305f\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u773c\u5e95\u691c\u67fb\u3092\u3059\u308b\u3068\u7279\u5fb4\u7684\u306a\u8272\u7d20\u306e\u30e0\u30e9\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E7%9F%A5%E7%9A%84%E7%99%BA%E9%81%94%E3%83%BB%E7%B2%BE%E7%A5%9E%E7%99%BA%E9%81%94\"><\/span><strong>\u2462 \u77e5\u7684\u767a\u9054\u30fb\u7cbe\u795e\u767a\u9054<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u539f\u56e0:<\/strong> \u77e5\u7684\u6a5f\u80fd\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\uff08<em>ZNF711<\/em>\u306a\u3069\u8907\u6570\u306e\u5019\u88dc\uff09\u304c\u6b20\u5931\u7bc4\u56f2\u306b\u542b\u307e\u308c\u308b\u5834\u5408\u306b\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5fb4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u9045\u308c\u3084\u3001\u904b\u52d5\u767a\u9054\uff08\u6b69\u304d\u59cb\u3081\u306a\u3069\uff09\u306e\u9045\u308c\u3068\u3057\u3066\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u4e00\u90e8\u306e\u304a\u5b50\u69d8\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306e\u3088\u3046\u306a\u7279\u5fb4\uff08\u3053\u3060\u308f\u308a\u304c\u5f37\u3044\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u82e6\u624b\u306a\u3069\uff09\u3092\u4f75\u305b\u6301\u3064\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A3_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E8%BA%AB%E4%BD%93%E7%9A%84%E7%89%B9%E5%BE%B4\"><\/span><strong>\u2463 \u305d\u306e\u4ed6\u306e\u8eab\u4f53\u7684\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8eab\u9577:<\/strong> \u6210\u9577\u30db\u30eb\u30e2\u30f3\u306a\u3069\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u304c\u5f71\u97ff\u3092\u53d7\u3051\u308b\u5834\u5408\u3001\u5c0f\u67c4\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u53e3\u84cb\u88c2\uff08\u3053\u3046\u304c\u3044\u308c\u3064\uff09:<\/strong> \u53e3\u306e\u4e2d\u306e\u5929\u4e95\u90e8\u5206\u304c\u88c2\u3051\u3066\u3044\u308b\u72b6\u614b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u7a00\u306b\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u80a5\u6e80:<\/strong> \u7279\u5b9a\u306e\u9818\u57df\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u5834\u5408\u3001\u4ee3\u8b1d\u306b\u95a2\u308f\u308b\u5f71\u97ff\u3067\u592a\u308a\u3084\u3059\u304f\u306a\u308b\u50be\u5411\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E5%8E%9F%E5%9B%A0%EF%BC%9A%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0\"><\/span><strong>3. \u539f\u56e0\uff1a\u907a\u4f1d\u5b50\u306e\u30e1\u30ab\u30cb\u30ba\u30e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%AA%E3%81%9C%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>\u306a\u305c\u6b20\u5931\u304c\u8d77\u3053\u308b\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u5834\u5408\u306f\u3001\u53d7\u7cbe\u5375\u304c\u3067\u304d\u308b\u904e\u7a0b\u3084\u3001\u3054\u4e21\u89aa\u306e\u751f\u6b96\u7d30\u80de\uff08\u7cbe\u5b50\u3084\u5375\u5b50\uff09\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3067\u8d77\u3053\u308b\u3001\u5076\u7136\u306e\u67d3\u8272\u4f53\u306e\u5909\u5316\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3092\u533b\u5b66\u7528\u8a9e\u3067\u300cde novo\uff08\u30c7\u30fb\u30ce\u30dc\uff09\u5909\u7570\u300d\u3068\u547c\u3073\u307e\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u3054\u4e21\u89aa\u306e\u4f53\u8cea\u3084\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6%EF%BC%88X%E9%80%A3%E9%8E%96%E6%80%A7%E9%81%BA%E4%BC%9D%EF%BC%89\"><\/span><strong>\u907a\u4f1d\u306b\u3064\u3044\u3066\uff08X\u9023\u9396\u6027\u907a\u4f1d\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6bcd\u89aa\u304c\u4fdd\u56e0\u8005\u306e\u5834\u5408:<\/strong> \u304a\u6bcd\u69d8\u304c\u30012\u672c\u306eX\u67d3\u8272\u4f53\u306e\u3046\u30611\u672c\u306b\u3053\u306e\u5fae\u7d30\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\uff08\u304a\u6bcd\u69d8\u81ea\u8eab\u306f\u5065\u5eb7\u3001\u307e\u305f\u306f\u8efd\u3044\u76ee\u306e\u75c7\u72b6\u306e\u307f\u306e\u5834\u5408\u304c\u591a\u3044\u3067\u3059\uff09\u3002\n<ul class=\"wp-block-list\">\n<li>\u7537\u306e\u5b50\u304c\u751f\u307e\u308c\u308b\u5834\u5408\uff1a50%\u306e\u78ba\u7387\u3067\u6b20\u5931\u306e\u3042\u308bX\u67d3\u8272\u4f53\u3092\u53d7\u3051\u7d99\u304e\u3001\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5973\u306e\u5b50\u304c\u751f\u307e\u308c\u308b\u5834\u5408\uff1a50%\u306e\u78ba\u7387\u3067\u4fdd\u56e0\u8005\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\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\u306b\u306f\u3001\u5c02\u9580\u7684\u306a\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%A2%E3%83%AC%E3%82%A4%E6%9F%93%E8%89%B2%E4%BD%93%E6%A4%9C%E6%9F%BB%EF%BC%88CMA%EF%BC%89\"><\/span><strong>\u2460 \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u73fe\u5728\u3001\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306b\u6700\u3082\u884c\u308f\u308c\u3066\u3044\u308b\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u901a\u5e38\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u306f\u898b\u3064\u3051\u3089\u308c\u306a\u3044\u3088\u3046\u306a\u3001\u975e\u5e38\u306b\u5fae\u7d30\u306a\u67d3\u8272\u4f53\u306e\u6b20\u3051\uff08\u30de\u30a4\u30af\u30ed\u6b20\u5931\uff09\u3092\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u300cX\u67d3\u8272\u4f53\u306eq21\u9818\u57df\u306b\u3001\u3007\u3007Mb\uff08\u30e1\u30ac\u30d9\u30fc\u30b9\uff09\u306e\u6b20\u5931\u304c\u3042\u308b\u300d\u3068\u3044\u3046\u3088\u3046\u306b\u3001\u8a73\u7d30\u306a\u7bc4\u56f2\u304c\u5206\u304b\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u2461 \u753b\u50cf\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5074\u982d\u9aa8CT\uff08\u8033\u306eCT\uff09:<\/strong> \u96e3\u8074\u306e\u539f\u56e0\u3092\u8abf\u3079\u308b\u305f\u3081\u306b\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002Xq21\u6b20\u5931\uff08\u7279\u306b<em>POU3F4<\/em>\u6b20\u5931\uff09\u3067\u306f\u3001\u5185\u8033\u306e\u5f62\u306b\u7279\u5fb4\u7684\u306a\u5909\u5316\uff08\u5185\u8033\u9053\u5e95\u306e\u6b20\u640d\u306a\u3069\uff09\u304c\u898b\u3089\u308c\u3001\u3053\u308c\u304c\u8a3a\u65ad\u306e\u6c7a\u3081\u624b\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u5e95\u691c\u67fb\u30fbERG\uff08\u7db2\u819c\u96fb\u56f3\uff09:<\/strong> \u30b3\u30ed\u30a4\u30c7\u30ec\u30df\u30a2\u306e\u5146\u5019\u304c\u306a\u3044\u304b\u3001\u7db2\u819c\u306e\u6a5f\u80fd\u3092\u8abf\u3079\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E5%AE%B6%E6%97%8F%E8%A7%A3%E6%9E%90\"><\/span><strong>\u2462 \u5bb6\u65cf\u89e3\u6790<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u304a\u6bcd\u69d8\u3084\u304a\u7236\u69d8\u306e\u67d3\u8272\u4f53\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u305d\u308c\u304c\u7a81\u767a\u7684\u306b\u8d77\u304d\u305f\u3082\u306e\u304b\u3001\u907a\u4f1d\u306b\u3088\u308b\u3082\u306e\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u3053\u308c\u306f\u6b21\u306e\u598a\u5a20\u3092\u8003\u3048\u308b\u969b\u306a\u3069\u306b\u91cd\u8981\u306a\u60c5\u5831\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/22344885_s-1.webp\" alt=\"\u89aa\u5b50\" class=\"wp-image-121523\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E3%81%93%E3%82%8C%E3%81%8B%E3%82%89%E3%81%AE%E3%83%AD%E3%83%BC%E3%83%89%E3%83%9E%E3%83%83%E3%83%97\"><\/span><strong>5. \u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5931\u308f\u308c\u305f\u907a\u4f1d\u5b50\u3092\u5143\u306b\u623b\u3059\u6cbb\u7642\u6cd5\u306f\u3001\u73fe\u6642\u70b9\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3057\u3066\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\uff08\u5bfe\u75c7\u7642\u6cd5\uff09\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u306e\u80fd\u529b\u3092\u6700\u5927\u9650\u306b\u4f38\u3070\u3059\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%A0_%E8%81%B4%E8%A6%9A%E3%81%AE%E7%AE%A1%E7%90%86%EF%BC%88%E6%9C%80%E5%84%AA%E5%85%88%E4%BA%8B%E9%A0%85%E3%81%AE%E4%B8%80%E3%81%A4%EF%BC%89\"><\/span><strong>\u2460 \u8074\u899a\u306e\u7ba1\u7406\uff08\u6700\u512a\u5148\u4e8b\u9805\u306e\u4e00\u3064\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u88dc\u8074\u5668:<\/strong> \u96e3\u8074\u304c\u3042\u308b\u5834\u5408\u3001\u65e9\u671f\u306b\u88dc\u8074\u5668\u3092\u4f7f\u7528\u3057\u3066\u300c\u97f3\u306e\u523a\u6fc0\u300d\u3092\u8133\u306b\u5c4a\u3051\u308b\u3053\u3068\u304c\u3001\u8a00\u8449\u306e\u767a\u9054\u306b\u3068\u3063\u3066\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4eba\u5de5\u5185\u8033\u306e\u691c\u8a0e\u3068\u6ce8\u610f:<\/strong> \u88dc\u8074\u5668\u3067\u52b9\u679c\u304c\u4e0d\u5341\u5206\u306a\u5834\u5408\u3001\u4eba\u5de5\u5185\u8033\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u524d\u8ff0\u306e\u300cGusher\uff08\u9ac4\u6db2\u5674\u51fa\uff09\u300d\u306e\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u3001\u624b\u8853\u7d4c\u9a13\u306e\u8c4a\u5bcc\u306a\u5c02\u9580\u533b\u306b\u3088\u308b\u614e\u91cd\u306a\u5224\u65ad\u3068\u3001\u7279\u5225\u306a\u8853\u5f0f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3:<\/strong> \u624b\u8a71\u3084\u8996\u899a\u7684\u652f\u63f4\u306a\u3069\u3001\u304a\u5b50\u69d8\u306b\u5408\u3063\u305f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E8%A6%96%E8%A6%9A%E3%81%AE%E7%AE%A1%E7%90%86\"><\/span><strong>\u2461 \u8996\u899a\u306e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b9a\u671f\u691c\u67fb:<\/strong> \u9032\u884c\u6027\u306e\u75c5\u5909\uff08\u30b3\u30ed\u30a4\u30c7\u30ec\u30df\u30a2\uff09\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u773c\u79d1\u53d7\u8a3a\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u906e\u5149\u773c\u93e1:<\/strong> \u307e\u3076\u3057\u3055\u3092\u5f37\u304f\u611f\u3058\u308b\u5834\u5408\u3001\u7279\u6b8a\u306a\u773c\u93e1\u3092\u4f7f\u7528\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30ed\u30fc\u30d3\u30b8\u30e7\u30f3\u30b1\u30a2:<\/strong> \u8996\u529b\u304c\u4f4e\u4e0b\u3057\u305f\u5834\u5408\u3067\u3082\u3001\u62e1\u5927\u8aad\u66f8\u5668\u3084\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u306a\u3069\u3092\u6d3b\u7528\u3057\u3066\u3001\u5b66\u7fd2\u3084\u751f\u6d3b\u3092\u652f\u63f4\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E7%99%BA%E9%81%94%E3%83%BB%E6%95%99%E8%82%B2%E7%9A%84%E6%94%AF%E6%8F%B4%EF%BC%88%E7%99%82%E8%82%B2%EF%BC%89\"><\/span><strong>\u2462 \u767a\u9054\u30fb\u6559\u80b2\u7684\u652f\u63f4\uff08\u7642\u80b2\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2:<\/strong> \u8a00\u8449\u306e\u9045\u308c\u3084\u8eab\u4f53\u306e\u4f7f\u3044\u65b9\u306e\u4e0d\u5668\u7528\u3055\u306b\u5bfe\u3057\u3066\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u306a\u3069\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6559\u80b2\u74b0\u5883:<\/strong> \u8996\u899a\u3084\u8074\u899a\u306b\u8ab2\u984c\u304c\u3042\u308b\u5834\u5408\u3001\u901a\u5e38\u306e\u5b66\u7d1a\u3060\u3051\u3067\u306a\u304f\u3001\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u3084\u8996\u899a\u30fb\u8074\u899a\u7279\u5225\u652f\u63f4\u5b66\u6821\u306a\u3069\u3001\u304a\u5b50\u69d8\u306e\u7279\u6027\u306b\u6700\u3082\u9069\u3057\u305f\u5b66\u7fd2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002\u60c5\u5831\u306e\u5165\u308a\u53e3\uff08\u76ee\u3068\u8033\uff09\u3092\u6574\u3048\u308b\u3053\u3068\u304c\u3001\u5b66\u7fd2\u306b\u304a\u3044\u3066\u6700\u3082\u5927\u5207\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A3_%E9%81%BA%E4%BC%9D%E3%82%AB%E3%82%A6%E3%83%B3%E3%82%BB%E3%83%AA%E3%83%B3%E3%82%B0\"><\/span><strong>\u2463 \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6b21\u306e\u304a\u5b50\u69d8\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u3084\u3001\u304a\u59c9\u3055\u3093\u30fb\u59b9\u3055\u3093\u306e\u5c06\u6765\uff08\u4fdd\u56e0\u8005\u304b\u3069\u3046\u304b\uff09\u306b\u3064\u3044\u3066\u5fc3\u914d\u306a\u5834\u5408\u306f\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306b\u76f8\u8ac7\u3059\u308b\u3053\u3068\u3092\u304a\u52e7\u3081\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E7%97%87%E7%8A%B6%E3%81%A8%E5%AF%BE%E5%BF%9C%E3%81%AE%E3%81%BE%E3%81%A8%E3%82%81%E3%83%86%E3%83%BC%E3%83%96%E3%83%AB\"><\/span><strong>6. \u75c7\u72b6\u3068\u5bfe\u5fdc\u306e\u307e\u3068\u3081\u30c6\u30fc\u30d6\u30eb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8907\u96d1\u306a\u75c7\u72b6\u3092\u6574\u7406\u3059\u308b\u305f\u3081\u306e\u8868\u3067\u3059\u3002\u533b\u5e2b\u3068\u306e\u76f8\u8ac7\u6642\u306a\u3069\u306b\u3054\u6d3b\u7528\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><tbody><tr><td><strong>\u9818\u57df<\/strong><\/td><td><strong>\u95a2\u9023\u3059\u308b\u4e3b\u306a\u907a\u4f1d\u5b50<\/strong><\/td><td><strong>\u4e3b\u306a\u75c7\u72b6\u30fb\u7279\u5fb4<\/strong><\/td><td><strong>\u5bfe\u5fdc\u30fb\u7ba1\u7406\u306e\u30dd\u30a4\u30f3\u30c8<\/strong><\/td><\/tr><tr><td><strong>\u8074\u899a<\/strong><\/td><td><em>POU3F4<\/em><\/td><td>\u25cf \u6df7\u5408\u6027\u96e3\u8074<br>\u25cf \u3042\u3076\u307f\u9aa8\u56fa\u7740<br>\u25cf \u5185\u8033\u5947\u5f62<\/td><td><strong>\u3010\u8981\u6ce8\u610f\u3011\u624b\u8853\u6642\u306eGusher\u30ea\u30b9\u30af<\/strong><br>\u25cf \u65e9\u671f\u306e\u88dc\u8074\u5668\u88c5\u7528<br>\u25cf \u5b9a\u671f\u7684\u306a\u8074\u529b\u691c\u67fb<\/td><\/tr><tr><td><strong>\u8996\u899a<\/strong><\/td><td><em>CHM<\/em> (REP1)<\/td><td>\u25cf \u30b3\u30ed\u30a4\u30c7\u30ec\u30df\u30a2<br>\u25cf \u591c\u76f2\uff08\u9ce5\u76ee\uff09<br>\u25cf \u8996\u91ce\u304c\u72ed\u304f\u306a\u308b<\/td><td>\u25cf \u5b9a\u671f\u7684\u306a\u773c\u5e95\u691c\u67fb<br>\u25cf \u6697\u3044\u5834\u6240\u3067\u306e\u4e8b\u6545\u9632\u6b62<br>\u25cf \u906e\u5149\u773c\u93e1\u306e\u5229\u7528<\/td><\/tr><tr><td><strong>\u767a\u9054<\/strong><\/td><td>\u8907\u6570\u306e\u907a\u4f1d\u5b50<br>(<em>ZNF711<\/em>\u7b49)<\/td><td>\u25cf <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><br>\u25cf \u8a00\u8449\u306e\u9045\u308c<br>\u25cf \u81ea\u9589\u7684\u50be\u5411<\/td><td>\u25cf \u65e9\u671f\u7642\u80b2\uff08ST\/OT\/PT\uff09<br>\u25cf \u500b\u6027\u306b\u5408\u308f\u305b\u305f\u5b66\u7fd2\u652f\u63f4<br>\u25cf \u8996\u899a\u30fb\u8074\u899a\u306b\u914d\u616e\u3057\u305f\u74b0\u5883\u8a2d\u5b9a<\/td><\/tr><tr><td><strong>\u305d\u306e\u4ed6<\/strong><\/td><td>&#8212;<\/td><td>\u25cf \u4f4e\u8eab\u9577<br>\u25cf \u80a5\u6e80\u50be\u5411<\/td><td>\u25cf \u6210\u9577\u66f2\u7dda\u306e\u78ba\u8a8d<br>\u25cf \u6804\u990a\u7ba1\u7406\u30fb\u98df\u4e8b\u6307\u5c0e<\/td><\/tr><\/tbody><\/table><\/figure>\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\"><\/span><strong>7. \u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>Xq21\u6b20\u5931\u75c7\u5019\u7fa4<\/strong>\u306f\u3001X\u67d3\u8272\u4f53\u306e\u7279\u5b9a\u90e8\u5206\u306e\u5fae\u7d30\u6b20\u5931\u306b\u3088\u308a\u3001\u76ee\u3001\u8033\u3001\u767a\u9054\u306a\u3069\u306b\u75c7\u72b6\u304c\u51fa\u308b\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u75c7\u72b6\u306e\u51fa\u65b9\u306f<strong>\u6b20\u5931\u306e\u7bc4\u56f2<\/strong>\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u7279\u306b<strong>\u7537\u6027\u3067\u75c7\u72b6\u304c\u5f37\u304f\u73fe\u308c\u307e\u3059<\/strong>\u3002<\/li>\n\n\n\n<li>**\u8074\u899a\u969c\u5bb3\uff08POU3F4\uff09<strong>\u3068<\/strong>\u8996\u899a\u969c\u5bb3\uff08CHM\uff09**\u306e\u5408\u4f75\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3042\u308a\u3001\u3053\u308c\u3089\u306f\u751f\u6d3b\u306e\u8cea\u306b\u76f4\u7d50\u3059\u308b\u305f\u3081\u3001\u65e9\u671f\u767a\u898b\u30fb\u65e9\u671f\u5bfe\u5fdc\u304c\u9375\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8033\u306e\u624b\u8853\uff08\u4eba\u5de5\u5185\u8033\u306a\u3069\uff09\u306b\u306f**\u7279\u6b8a\u306a\u30ea\u30b9\u30af\uff08Gusher\uff09**\u304c\u3042\u308b\u305f\u3081\u3001\u5fc5\u305a\u5c02\u9580\u533b\u306b\u3053\u306e\u8a3a\u65ad\u540d\u3092\u4f1d\u3048\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6839\u672c\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u533b\u7642\u6a5f\u5668\u306e\u6d3b\u7528\u3084\u7642\u80b2\u306b\u3088\u3063\u3066\u3001\u304a\u5b50\u69d8\u306e\u6210\u9577\u3092\u652f\u3048\u308b\u624b\u6bb5\u306f\u305f\u304f\u3055\u3093\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ol>\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\u3044\u305f\u3068\u304d\u3001\u591a\u304f\u306e\u3054\u5bb6\u65cf\u306f\u300c\u81ea\u5206\u306e\u305b\u3044\u3067\u306f\u306a\u3044\u304b\u300d\u300c\u3053\u306e\u5b50\u306e\u5c06\u6765\u306f\u3069\u3046\u306a\u3063\u3066\u3057\u307e\u3046\u306e\u304b\u300d\u3068\u81ea\u5206\u3092\u8cac\u3081\u305f\u308a\u3001\u7d76\u671b\u611f\u3092\u611f\u3058\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305a\u306f\u3001\u3054\u81ea\u8eab\u3092\u8cac\u3081\u306a\u3044\u3067\u304f\u3060\u3055\u3044\u3002\u3053\u308c\u306f\u8ab0\u306e\u305b\u3044\u3067\u3082\u306a\u304f\u3001\u751f\u547d\u306e\u8a95\u751f\u306e\u904e\u7a0b\u3067\u5076\u7136\u8d77\u304d\u305f\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300cTreat the child, not the chromosome.\uff08\u67d3\u8272\u4f53\u3067\u306f\u306a\u304f\u3001\u305d\u306e\u5b50\u81ea\u8eab\u3092\u898b\u3066\uff09\u300d<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u907a\u4f1d\u533b\u7642\u306e\u4e16\u754c\u3067\u5927\u5207\u306b\u3055\u308c\u3066\u3044\u308b\u8a00\u8449\u3067\u3059\u3002<\/p>\n\n\n\n<p>Xq21\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u3044\u3046\u8a3a\u65ad\u540d\u306f\u3001\u304a\u5b50\u69d8\u306e\u7279\u5fb4\u306e\u4e00\u90e8\u3092\u8868\u3059\u30e9\u30d9\u30eb\u306b\u904e\u304e\u307e\u305b\u3093\u3002\u76ee\u306e\u524d\u306b\u3044\u308b\u304a\u5b50\u69d8\u306f\u3001\u8a3a\u65ad\u540d\u306e\u67a0\u306b\u306f\u53ce\u307e\u308a\u304d\u3089\u306a\u3044\u3001\u8c4a\u304b\u306a\u611f\u60c5\u3068\u53ef\u80fd\u6027\u3092\u6301\u3063\u305f\u4e00\u4eba\u306e\u4eba\u9593\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u76ee\u3068\u8033\u300d\u306e\u30b1\u30a2\u304c\u9375\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306f\u3001\u60c5\u5831\u3092\u53d6\u308a\u5165\u308c\u308b\u300c\u76ee\u300d\u3068\u300c\u8033\u300d\u306b\u30cf\u30f3\u30c7\u30a3\u30ad\u30e3\u30c3\u30d7\u3092\u6301\u3064\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u9006\u306b\u8a00\u3048\u3070\u3001\u3053\u3053\u306e\u30b1\u30a2\u3092\u3057\u3063\u304b\u308a\u884c\u3046\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u306e\u4e16\u754c\u306f\u5927\u304d\u304f\u5e83\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u4ee3\u306e\u533b\u7642\u6a5f\u5668\u3084\u652f\u63f4\u6280\u8853\u306e\u9032\u6b69\u306f\u76ee\u899a\u307e\u3057\u3044\u3082\u306e\u304c\u3042\u308a\u307e\u3059\u3002\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u4e00\u3064\u3067\u3001\u8996\u899a\u3084\u8074\u899a\u306e\u58c1\u3092\u8d8a\u3048\u3089\u308c\u308b\u3053\u3068\u3082\u5897\u3048\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u30c1\u30fc\u30e0\u3067\u652f\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u5150\u79d1\u533b\u3001\u8033\u9f3b\u79d1\u533b\u3001\u773c\u79d1\u533b\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3001\u305d\u3057\u3066\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3002\u591a\u304f\u306e\u5c02\u9580\u5bb6\u304c\u30c1\u30fc\u30e0\u3068\u306a\u3063\u3066\u3001\u304a\u5b50\u69d8\u3068\u3054\u5bb6\u65cf\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e0d\u5b89\u306a\u3053\u3068\u304c\u3042\u308c\u3070\u3001\u5c0f\u3055\u306a\u3053\u3068\u3067\u3082\u5c02\u9580\u5bb6\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u305d\u3057\u3066\u3001\u540c\u3058\u3088\u3046\u306a\u60a9\u307f\u3092\u6301\u3064\u5bb6\u65cf\u4f1a\u306a\u3069\u3068\u3064\u306a\u304c\u308b\u3053\u3068\u3082\u3001\u5927\u304d\u306a\u5fc3\u306e\u652f\u3048\u306b\u306a\u308b\u306f\u305a\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u69d8\u306e\u6210\u9577\u306f\u3001\u3086\u3063\u304f\u308a\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3067\u3082\u3001\u305d\u306e\u4e00\u6b69\u4e00\u6b69\u306f\u78ba\u5b9f\u306b\u672a\u6765\u3078\u3068\u3064\u306a\u304c\u3063\u3066\u3044\u307e\u3059\u3002\u7126\u3089\u305a\u3001\u3054\u5bb6\u65cf\u306e\u30da\u30fc\u30b9\u3067\u6b69\u3093\u3067\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n","protected":false},"excerpt":{"rendered":"\u304a\u5b50\u69d8\u304c\u300c\u67d3\u8272\u4f53Xq21\u6b20\u5931\u75c7\u5019\u7fa4\uff08Ch&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq21-deletion-syndrome\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":88,"featured_media":121537,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-121676","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\/121676","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\/88"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=121676"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121676\/revisions"}],"predecessor-version":[{"id":121871,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121676\/revisions\/121871"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/121537"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121676"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=121676"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=121676"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}