{"id":121665,"date":"2026-01-07T15:53:56","date_gmt":"2026-01-07T06:53:56","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121665"},"modified":"2026-01-07T17:48:46","modified_gmt":"2026-01-07T08:48:46","slug":"chromosome-xq22-3-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/","title":{"rendered":"\u67d3\u8272\u4f53Xq22.3\u6b20\u5931\u75c7\u5019\u7fa4\uff08Chromosome Xq22.3 deletion syndrome\uff09\u306b\u3064\u3044\u3066"},"content":{"rendered":"<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"428\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/4179475_s.webp\" alt=\"\u8d64\u3061\u3083\u3093\" class=\"wp-image-121550\"\/><\/figure><\/div>\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\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E7%97%85%E5%90%8D%E3%81%AE%E6%84%8F%E5%91%B3\" >\u75c5\u540d\u306e\u610f\u5473<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%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%E7%89%B9%E5%BE%B4\" >\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u7279\u5fb4<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\" >2. \u4e3b\u306a\u75c7\u72b6<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E2%91%A0_%E8%85%8E%E8%87%93%E3%81%AE%E7%97%87%E7%8A%B6%EF%BC%88%E3%82%A2%E3%83%AB%E3%83%9D%E3%83%BC%E3%83%88%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AE%E8%A6%81%E7%B4%A0%EF%BC%89\" >\u2460 \u814e\u81d3\u306e\u75c7\u72b6\uff08\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306e\u8981\u7d20\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E2%91%A1_%E8%81%B4%E8%A6%9A%E3%81%AE%E7%97%87%E7%8A%B6\" >\u2461 \u8074\u899a\u306e\u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E2%91%A2_%E5%B9%B3%E6%BB%91%E7%AD%8B%EF%BC%88%E3%81%B8%E3%81%84%E3%81%8B%E3%81%A4%E3%81%8D%E3%82%93%EF%BC%89%E3%81%AE%E7%97%87%E7%8A%B6\" >\u2462 \u5e73\u6ed1\u7b4b\uff08\u3078\u3044\u304b\u3064\u304d\u3093\uff09\u306e\u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E2%91%A3_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E7%97%87%E7%8A%B6%EF%BC%88AMME%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AA%E3%81%A9%EF%BC%89\" >\u2463 \u305d\u306e\u4ed6\u306e\u75c7\u72b6\uff08AMME\u75c7\u5019\u7fa4\u306a\u3069\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#3_%E5%8E%9F%E5%9B%A0%E3%81%A8%E9%81%BA%E4%BC%9D%E3%81%AE%E4%BB%95%E7%B5%84%E3%81%BF\" >3. \u539f\u56e0\u3068\u907a\u4f1d\u306e\u4ed5\u7d44\u307f<\/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-xq22-3-deletion-syndrome\/#%E5%8E%9F%E5%9B%A0%EF%BC%9A%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E6%AC%A0%E5%A4%B1\" >\u539f\u56e0\uff1a\u907a\u4f1d\u5b50\u306e\u6b20\u5931<\/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-xq22-3-deletion-syndrome\/#%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%EF%BC%9AX%E9%80%A3%E9%8E%96%E6%80%A7%E9%81%BA%E4%BC%9D%EF%BC%88X-linked_inheritance%EF%BC%89\" >\u907a\u4f1d\u5f62\u5f0f\uff1aX\u9023\u9396\u6027\u907a\u4f1d\uff08X-linked inheritance\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E3%80%8C%E9%81%BA%E4%BC%9D%E3%80%8D%E3%81%A8%E3%80%8C%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%E3%80%8D\" >\u300c\u907a\u4f1d\u300d\u3068\u300c\u7a81\u7136\u5909\u7570\u300d<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#4_%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\" >4. \u8a3a\u65ad\u3068\u691c\u67fb<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%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\" >\u2460 \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E2%91%A1_%E5%B0%BF%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A1%80%E6%B6%B2%E6%A4%9C%E6%9F%BB\" >\u2461 \u5c3f\u691c\u67fb\u30fb\u8840\u6db2\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E2%91%A2_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\" >\u2462 \u753b\u50cf\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E2%91%A3_%E7%B5%84%E7%B9%94%E7%94%9F%E6%A4%9C%EF%BC%88%E7%9A%AE%E8%86%9A%E3%83%BB%E8%85%8E%E8%87%93%EF%BC%89\" >\u2463 \u7d44\u7e54\u751f\u691c\uff08\u76ae\u819a\u30fb\u814e\u81d3\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#5_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\" >5. \u6cbb\u7642\u3068\u7ba1\u7406<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E8%85%8E%E8%87%93%E3%81%AE%E4%BF%9D%E8%AD%B7%EF%BC%88%E6%9C%80%E3%82%82%E9%87%8D%E8%A6%81%EF%BC%89\" >\u814e\u81d3\u306e\u4fdd\u8b77\uff08\u6700\u3082\u91cd\u8981\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E8%81%B4%E8%A6%9A%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >\u8074\u899a\u306e\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-xq22-3-deletion-syndrome\/#%E5%B9%B3%E6%BB%91%E7%AD%8B%E8%85%AB%EF%BC%88%E9%A3%9F%E9%81%93%E3%81%AA%E3%81%A9%EF%BC%89%E3%81%B8%E3%81%AE%E5%AF%BE%E5%BF%9C\" >\u5e73\u6ed1\u7b4b\u816b\uff08\u98df\u9053\u306a\u3069\uff09\u3078\u306e\u5bfe\u5fdc<\/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-xq22-3-deletion-syndrome\/#%E7%99%BA%E9%81%94%E3%83%BB%E7%99%82%E8%82%B2%E7%9A%84%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >\u767a\u9054\u30fb\u7642\u80b2\u7684\u30b5\u30dd\u30fc\u30c8<\/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-xq22-3-deletion-syndrome\/#6_%E3%81%BE%E3%81%A8%E3%82%81%EF%BC%9A%E7%97%85%E6%B0%97%E3%81%A8%E3%81%AE%E4%BB%98%E3%81%8D%E5%90%88%E3%81%84%E6%96%B9\" >6. \u307e\u3068\u3081\uff1a\u75c5\u6c17\u3068\u306e\u4ed8\u304d\u5408\u3044\u65b9<\/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-xq22-3-deletion-syndrome\/#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=\"%E3%81%AF%E3%81%98%E3%82%81%E3%81%AB\"><\/span><strong>\u306f\u3058\u3081\u306b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u300c\u67d3\u8272\u4f53Xq22.3\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u8a3a\u65ad\u540d\u3092\u805e\u3044\u3066\u3001\u591a\u304f\u306e\u3054\u5bb6\u65cf\u306f\u521d\u3081\u3066\u805e\u304f\u75c5\u540d\u306b\u6238\u60d1\u3044\u3001\u5927\u304d\u306a\u4e0d\u5b89\u3092\u611f\u3058\u3089\u308c\u3066\u3044\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3053\u306e\u30da\u30fc\u30b8\u306f\u3001\u3053\u306e\u75c5\u6c17\u304c\u3069\u306e\u3088\u3046\u306a\u3082\u306e\u306a\u306e\u304b\u3001\u3069\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u73fe\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u306e\u304b\u3001\u305d\u3057\u3066\u3053\u308c\u304b\u3089\u3069\u306e\u3088\u3046\u306b\u5411\u304d\u5408\u3063\u3066\u3044\u3051\u3070\u3088\u3044\u306e\u304b\u306b\u3064\u3044\u3066\u3001\u533b\u5b66\u7684\u306a\u60c5\u5831\u3092\u5206\u304b\u308a\u3084\u3059\u304f\u6574\u7406\u3059\u308b\u305f\u3081\u306b\u4f5c\u6210\u3055\u308c\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u975e\u5e38\u306b\u7a00\u306a\u3082\u306e\u3067\u3042\u308a\u3001\u75c7\u72b6\u306e\u51fa\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u3053\u306b\u66f8\u304b\u308c\u3066\u3044\u308b\u3053\u3068\u3059\u3079\u3066\u304c\u3001\u5fc5\u305a\u3057\u3082\u3059\u3079\u3066\u306e\u304a\u5b50\u3055\u3093\u3084\u60a3\u8005\u3055\u3093\u306b\u5f53\u3066\u306f\u307e\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u307e\u305a\u306f\u5168\u4f53\u50cf\u3092\u7406\u89e3\u3057\u3001\u4e3b\u6cbb\u533b\u306e\u5148\u751f\u3068\u8a71\u3057\u5408\u3046\u305f\u3081\u306e\u300c\u57fa\u790e\u77e5\u8b58\u300d\u3068\u3057\u3066\u304a\u5f79\u7acb\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\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%E5%90%8D%E3%81%AE%E6%84%8F%E5%91%B3\"><\/span><strong>\u75c5\u540d\u306e\u610f\u5473<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u307e\u305a\u306f\u3001\u5c11\u3057\u96e3\u3057\u3044\u75c5\u540d\u3092\u5206\u89e3\u3057\u3066\u7406\u89e3\u3057\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u67d3\u8272\u4f53\uff08Chromosome\uff09<\/strong>: \u4eba\u9593\u306e\u4f53\u3092\u4f5c\u308b\u8a2d\u8a08\u56f3\uff08DNA\uff09\u304c\u53ce\u7d0d\u3055\u308c\u3066\u3044\u308b\u69cb\u9020\u7269\u3067\u3059\u3002\u4eba\u9593\u306b\u306f46\u672c\u306e\u67d3\u8272\u4f53\u304c\u3042\u308a\u3001\u305d\u306e\u3046\u30612\u672c\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u3092\u6c7a\u3081\u308b\u300c\u6027\u67d3\u8272\u4f53\uff08X\u3068Y\uff09\u300d\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>Xq22.3<\/strong>: \u4f4f\u6240\u306e\u3088\u3046\u306a\u3082\u306e\u3067\u3059\u3002\u300cX\u67d3\u8272\u4f53\u300d\u306e\u300c\u9577\u8155\uff08q\uff09\u300d\u306e\u300c22.3\u300d\u3068\u3044\u3046\u7279\u5b9a\u306e\u5834\u6240\u3092\u6307\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\uff08Deletion\uff09<\/strong>: \u305d\u306e\u5834\u6240\u306b\u3042\u308b\u907a\u4f1d\u60c5\u5831\u306e\u4e00\u90e8\u304c\u629c\u3051\u843d\u3061\u3066\u3044\u308b\uff08\u306a\u304f\u306a\u3063\u3066\u3044\u308b\uff09\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u75c7\u5019\u7fa4\uff08Syndrome\uff09<\/strong>: \u8907\u6570\u306e\u75c7\u72b6\u304c\u7279\u5fb4\u7684\u306b\u73fe\u308c\u308b\u75c5\u6c17\u306e\u3053\u3068\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3064\u307e\u308a\u3001\u3053\u306e\u75c5\u6c17\u306f**\u300cX\u67d3\u8272\u4f53\u306e\u7279\u5b9a\u306e\u5834\u6240\u306b\u3042\u308b\u907a\u4f1d\u5b50\u304c\u6b20\u3051\u3066\u3057\u307e\u3063\u305f\u3053\u3068\u3067\u3001\u3044\u304f\u3064\u304b\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u304c\u73fe\u308c\u308b\u72b6\u614b\u300d**\u3092\u6307\u3057\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%E7%89%B9%E5%BE%B4\"><\/span><strong>\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u5927\u304d\u306a\u7279\u5fb4\u306f\u3001\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff08Contiguous gene syndrome\uff09\u300d\u3067\u3042\u308b\u3068\u3044\u3046\u70b9\u3067\u3059\u3002 Xq22.3\u3068\u3044\u3046\u5834\u6240\u306b\u306f\u3001\u79c1\u305f\u3061\u306e\u4f53\u306b\u3068\u3063\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u907a\u4f1d\u5b50\u304c\u3044\u304f\u3064\u304b\u4e26\u3093\u3067\u3044\u307e\u3059\u3002\u6b20\u5931\u306e\u7bc4\u56f2\uff08\u3069\u306e\u304f\u3089\u3044\u5e83\u304f\u907a\u4f1d\u5b50\u304c\u306a\u304f\u306a\u3063\u3066\u3044\u308b\u304b\uff09\u306b\u3088\u3063\u3066\u3001\u4e00\u3064\u3060\u3051\u306e\u75c5\u6c17\u304c\u767a\u75c7\u3059\u308b\u3053\u3068\u3082\u3042\u308c\u3070\u3001\u96a3\u308a\u5408\u3046\u8907\u6570\u306e\u75c5\u6c17\u304c\u5408\u4f75\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u822c\u7684\u306b\u306f\u3001\u4ee5\u4e0b\u306e2\u3064\u306e\u4e3b\u8981\u306a\u75be\u60a3\u304c\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\uff08Alport syndrome\uff09<\/strong>: \u814e\u81d3\u3084\u8033\u306e\u75c5\u6c17<\/li>\n\n\n\n<li><strong>\u3073\u307e\u3093\u6027\u5e73\u6ed1\u7b4b\u816b\u75c7\uff08Diffuse Leiomyomatosis\uff09<\/strong>: \u98df\u9053\u306a\u3069\u306e\u7b4b\u8089\u306b\u826f\u6027\u306e\u816b\u760d\u304c\u3067\u304d\u308b\u75c5\u6c17<\/li>\n<\/ol>\n\n\n\n<p>\u3053\u308c\u3089\u306b\u52a0\u3048\u3066\u3001\u77e5\u7684\u767a\u9054\u3078\u306e\u5f71\u97ff\u306a\u3069\u304c\u7d44\u307f\u5408\u308f\u3055\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u3001\u6b20\u3051\u3066\u3044\u308b\u907a\u4f1d\u5b50\u306e\u7bc4\u56f2\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u3053\u3053\u3067\u306f\u3001\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u3092\u4f53\u306e\u90e8\u4f4d\u3054\u3068\u306b\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E8%85%8E%E8%87%93%E3%81%AE%E7%97%87%E7%8A%B6%EF%BC%88%E3%82%A2%E3%83%AB%E3%83%9D%E3%83%BC%E3%83%88%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AE%E8%A6%81%E7%B4%A0%EF%BC%89\"><\/span><strong>\u2460 \u814e\u81d3\u306e\u75c7\u72b6\uff08\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306e\u8981\u7d20\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6700\u3082\u6ce8\u610f\u6df1\u304f\u7ba1\u7406\u304c\u5fc5\u8981\u306a\u306e\u304c\u814e\u81d3\u3067\u3059\u3002Xq22.3\u9818\u57df\u306b\u306f\u3001\u814e\u81d3\u306e\u30d5\u30a3\u30eb\u30bf\u30fc\u3092\u4f5c\u308b\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u306a\u300cIV\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u907a\u4f1d\u5b50\uff08<em>COL4A5<\/em>\uff09\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u4ee5\u4e0b\u306e\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8840\u5c3f\uff08\u3051\u3064\u306b\u3087\u3046\uff09<\/strong>: \u5c3f\u306b\u8840\u304c\u6df7\u3058\u308a\u307e\u3059\u3002\u898b\u305f\u76ee\u3067\u308f\u304b\u308b\u5834\u5408\uff08\u8089\u773c\u7684\u8840\u5c3f\uff09\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u9855\u5fae\u93e1\u3067\u306a\u3044\u3068\u308f\u304b\u3089\u306a\u3044\u30ec\u30d9\u30eb\uff08\u9855\u5fae\u93e1\u7684\u8840\u5c3f\uff09\u306e\u3053\u3068\u304c\u591a\u304f\u3001\u5e7c\u5c11\u671f\u304b\u3089\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30bf\u30f3\u30d1\u30af\u5c3f<\/strong>: \u814e\u81d3\u306e\u30d5\u30a3\u30eb\u30bf\u30fc\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3057\u3001\u672c\u6765\u4f53\u306b\u5fc5\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u5c3f\u306b\u6f0f\u308c\u51fa\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u6a5f\u80fd\u306e\u4f4e\u4e0b<\/strong>: \u5e74\u9f62\u3068\u3068\u3082\u306b\u5f90\u3005\u306b\u814e\u81d3\u306e\u50cd\u304d\u304c\u5f31\u304f\u306a\u308a\u3001\u5c06\u6765\u7684\u306b\u900f\u6790\u3084\u814e\u79fb\u690d\u304c\u5fc5\u8981\u306b\u306a\u308b\u300c\u672b\u671f\u814e\u4e0d\u5168\u300d\u3078\u3068\u9032\u884c\u3059\u308b\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002\n<ul class=\"wp-block-list\">\n<li>\u203b\u7537\u6027\u306e\u65b9\u304c\u5973\u6027\u3088\u308a\u3082\u65e9\u671f\u306b\u91cd\u75c7\u5316\u3057\u3084\u3059\u3044\u50be\u5411\u304c\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%A1_%E8%81%B4%E8%A6%9A%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span><strong>\u2461 \u8074\u899a\u306e\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u611f\u97f3\u96e3\u8074\uff08\u304b\u3093\u304a\u3093\u306a\u3093\u3061\u3087\u3046\uff09<\/strong>: \u97f3\u3092\u611f\u3058\u53d6\u308b\u795e\u7d4c\u7cfb\u306e\u96e3\u8074\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u591a\u304f\u306e\u5834\u5408\u3001\u751f\u307e\u308c\u3064\u304d\u3067\u306f\u306a\u304f\u3001\u5b66\u7ae5\u671f\uff0810\u6b73\u524d\u5f8c\uff09\u304b\u3089\u5f90\u3005\u306b\u9ad8\u3044\u97f3\u304c\u805e\u3053\u3048\u306b\u304f\u304f\u306a\u308b\u5f62\u3067\u9032\u884c\u3057\u307e\u3059\u3002\u814e\u81d3\u306e\u75c7\u72b6\u3068\u30bb\u30c3\u30c8\u3067\u73fe\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E5%B9%B3%E6%BB%91%E7%AD%8B%EF%BC%88%E3%81%B8%E3%81%84%E3%81%8B%E3%81%A4%E3%81%8D%E3%82%93%EF%BC%89%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span><strong>\u2462 \u5e73\u6ed1\u7b4b\uff08\u3078\u3044\u304b\u3064\u304d\u3093\uff09\u306e\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Xq22.3\u9818\u57df\u306b\u3042\u308b<em>COL4A5<\/em>\u907a\u4f1d\u5b50\u3068\u3001\u305d\u306e\u96a3\u306b\u3042\u308b<em>COL4A6<\/em>\u907a\u4f1d\u5b50\u306e\u4e21\u65b9\u304c\u6b20\u5931\u3057\u305f\u5834\u5408\u306b\u898b\u3089\u308c\u308b\u7279\u6b8a\u306a\u75c7\u72b6\u3067\u3059\u3002\u3053\u308c\u3092\u300c\u3073\u307e\u3093\u6027\u5e73\u6ed1\u7b4b\u816b\u75c7\uff08DL\uff09\u300d\u3068\u547c\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u98df\u9053\u306e\u5e73\u6ed1\u7b4b\u816b<\/strong>: \u98df\u9053\u306e\u7b4b\u8089\u304c\u5206\u539a\u304f\u306a\u308a\u3001\u826f\u6027\u306e\u816b\u760d\u304c\u3067\u304d\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u98df\u3079\u7269\u304c\u98f2\u307f\u8fbc\u307f\u306b\u304f\u304f\u306a\u3063\u305f\u308a\uff08\u56a5\u4e0b\u969c\u5bb3\uff09\u3001\u98df\u3079\u305f\u3082\u306e\u3092\u5410\u304d\u623b\u3057\u3066\u3057\u307e\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5c0f\u5150\u671f\u5f8c\u534a\u304b\u3089\u6210\u4eba\u671f\u306b\u304b\u3051\u3066\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6c17\u7ba1\u30fb\u6c17\u7ba1\u652f\u3078\u306e\u5f71\u97ff<\/strong>: \u816b\u760d\u304c\u5927\u304d\u304f\u306a\u308b\u3068\u6c17\u9053\u3092\u5727\u8feb\u3057\u3001\u54b3\u304c\u51fa\u305f\u308a\u547c\u5438\u304c\u3057\u306b\u304f\u304f\u306a\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5973\u6027\u5668\u306e\u5e73\u6ed1\u7b4b\u816b<\/strong>: \u5973\u6027\u306e\u5834\u5408\u3001\u5b50\u5bae\u7b4b\u816b\u306a\u3069\u304c\u591a\u767a\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%A3_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E7%97%87%E7%8A%B6%EF%BC%88AMME%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AA%E3%81%A9%EF%BC%89\"><\/span><strong>\u2463 \u305d\u306e\u4ed6\u306e\u75c7\u72b6\uff08AMME\u75c7\u5019\u7fa4\u306a\u3069\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3055\u3089\u306b\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u3044\u5834\u5408\uff08<em>AMMECR1<\/em>\u907a\u4f1d\u5b50\u306a\u3069\u3092\u542b\u3080\u5834\u5408\uff09\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u75c7\u72b6\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u300cAMME complex\uff08\u30a2\u30e1\u30fb\u30b3\u30f3\u30d7\u30ec\u30c3\u30af\u30b9\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u306e\u9045\u308c\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/strong>: \u8a00\u8449\u306e\u9045\u308c\u3084\u3001\u5b66\u7fd2\u9762\u3067\u306e\u56f0\u96e3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9854\u8c8c\u306e\u7279\u5fb4<\/strong>: \u9854\u306e\u4e2d\u592e\u90e8\u304c\u5e73\u5766\u3067\u3042\u308b\uff08\u4e2d\u9854\u9762\u4f4e\u5f62\u6210\uff09\u306a\u3069\u306e\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6955\u5186\u8d64\u8840\u7403\u75c7\uff08\u3060\u3048\u3093\u305b\u3063\u3051\u3063\u304d\u3085\u3046\u3057\u3087\u3046\uff09<\/strong>: \u8d64\u8840\u7403\u306e\u5f62\u304c\u6955\u5186\u5f62\u306b\u306a\u308b\u8840\u6db2\u306e\u7279\u5fb4\u3067\u3059\u304c\u3001\u3053\u308c\u81ea\u4f53\u306f\u901a\u5e38\u3001\u8ca7\u8840\u306a\u3069\u306e\u91cd\u3044\u75c7\u72b6\u3092\u8d77\u3053\u3059\u3053\u3068\u306f\u7a00\u3067\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%E3%81%A8%E9%81%BA%E4%BC%9D%E3%81%AE%E4%BB%95%E7%B5%84%E3%81%BF\"><\/span><strong>3. \u539f\u56e0\u3068\u907a\u4f1d\u306e\u4ed5\u7d44\u307f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%EF%BC%9A%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E6%AC%A0%E5%A4%B1\"><\/span><strong>\u539f\u56e0\uff1a\u907a\u4f1d\u5b50\u306e\u6b20\u5931<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u76f4\u63a5\u7684\u306a\u539f\u56e0\u306f\u3001X\u67d3\u8272\u4f53\u4e0a\u306eXq22.3\u9818\u57df\u306b\u304a\u3051\u308b\u5fae\u7d30\u306a\u6b20\u5931\u3067\u3059\u3002\u7279\u306b\u91cd\u8981\u306a\u306e\u304c\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>COL4A5<\/strong>: \u814e\u81d3\u306e\u7cf8\u7403\u4f53\u57fa\u5e95\u819c\uff08\u30d5\u30a3\u30eb\u30bf\u30fc\uff09\u3001\u8033\u3001\u773c\u306e\u7d44\u7e54\u3092\u4f5c\u308bIV\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\u03b15\u9396\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>COL4A6<\/strong>: <em>COL4A5<\/em>\u306e\u3059\u3050\u96a3\u306b\u3042\u308a\u3001\u5e73\u6ed1\u7b4b\u816b\u75c7\u306b\u95a2\u4e0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>AMMECR1<\/strong>: \u767a\u9054\u3084\u9854\u8c8c\u306e\u5f62\u6210\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%EF%BC%9AX%E9%80%A3%E9%8E%96%E6%80%A7%E9%81%BA%E4%BC%9D%EF%BC%88X-linked_inheritance%EF%BC%89\"><\/span><strong>\u907a\u4f1d\u5f62\u5f0f\uff1aX\u9023\u9396\u6027\u907a\u4f1d\uff08X-linked inheritance\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u907a\u4f1d\u3092\u7406\u89e3\u3059\u308b\u306b\u306f\u3001\u300c\u7537\u6027\u306fXY\u300d\u300c\u5973\u6027\u306fXX\u300d\u3068\u3044\u3046\u6027\u67d3\u8272\u4f53\u306e\u9055\u3044\u3092\u77e5\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7537\u6027\uff08XY\uff09\u306e\u5834\u5408<\/strong>:\n<ul class=\"wp-block-list\">\n<li>X\u67d3\u8272\u4f53\u30921\u672c\u3057\u304b\u6301\u3063\u3066\u3044\u307e\u305b\u3093\u3002\u305d\u306e1\u672c\u306eX\u67d3\u8272\u4f53\u306eXq22.3\u90e8\u5206\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u3068\u3001\u305d\u308c\u3092\u88dc\u3046\u907a\u4f1d\u5b50\u304c\u306a\u3044\u305f\u3081\u3001\u75c7\u72b6\u304c\u306f\u3063\u304d\u308a\u3068\u73fe\u308c\u307e\u3059\uff08\u91cd\u75c7\u5316\u3057\u3084\u3059\u3044\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5973\u6027\uff08XX\uff09\u306e\u5834\u5408<\/strong>:\n<ul class=\"wp-block-list\">\n<li>X\u67d3\u8272\u4f53\u30922\u672c\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u7247\u65b9\u306eX\u67d3\u8272\u4f53\u306b\u6b20\u5931\u304c\u3042\u3063\u3066\u3082\u3001\u3082\u3046\u7247\u65b9\u306e\u5065\u5eb7\u306aX\u67d3\u8272\u4f53\u304c\u6a5f\u80fd\u3092\u88dc\u3046\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u305d\u306e\u305f\u3081\u3001\u5973\u6027\u306f\u300c\u4fdd\u56e0\u8005\uff08\u30ad\u30e3\u30ea\u30a2\uff09\u300d\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u75c7\u72b6\u304c\u51fa\u306a\u3044\u304b\u3001\u51fa\u3066\u3082\u8efd\u5ea6\uff08\u8efd\u3044\u8840\u5c3f\u306e\u307f\u306a\u3069\uff09\u3067\u6e08\u3080\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u7537\u6027\u3068\u540c\u3058\u304f\u3089\u3044\u75c7\u72b6\u304c\u51fa\u308b\u5973\u6027\u3082\u3044\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=\"%E3%80%8C%E9%81%BA%E4%BC%9D%E3%80%8D%E3%81%A8%E3%80%8C%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%E3%80%8D\"><\/span><strong>\u300c\u907a\u4f1d\u300d\u3068\u300c\u7a81\u7136\u5909\u7570\u300d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u4ee5\u4e0b\u306e2\u3064\u306e\u30d1\u30bf\u30fc\u30f3\u3067\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u89aa\u304b\u3089\u306e\u907a\u4f1d<\/strong>: \u304a\u6bcd\u3055\u3093\u304c\u4fdd\u56e0\u8005\u3067\u3042\u308a\u3001\u305d\u306eX\u67d3\u8272\u4f53\u3092\u304a\u5b50\u3055\u3093\u304c\u53d7\u3051\u7d99\u3050\u30b1\u30fc\u30b9\u3002<\/li>\n\n\n\n<li><strong>\u7a81\u7136\u5909\u7570\uff08de novo\uff09<\/strong>: \u3054\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306b\u306f\u5168\u304f\u7570\u5e38\u304c\u306a\u304f\u3001\u53d7\u7cbe\u5375\u304c\u3067\u304d\u308b\u904e\u7a0b\u3067\u5076\u7136\u305d\u306e\u90e8\u5206\u304c\u6b20\u3051\u3066\u3057\u307e\u3063\u305f\u30b1\u30fc\u30b9\u3002\u3053\u308c\u3092\u65b0\u751f\u7a81\u7136\u5909\u7570\u3068\u547c\u3073\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u300c\u89aa\u306e\u305b\u3044\u3067\u75c5\u6c17\u306b\u306a\u3063\u305f\u300d\u3068\u81ea\u5206\u3092\u8cac\u3081\u308b\u3054\u5bb6\u65cf\u304c\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u304c\u3001\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306f\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u81ea\u7136\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3067\u3042\u308a\u3001\u8ab0\u304b\u306e\u8cac\u4efb\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"428\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/3572735_s.webp\" alt=\"\u8d64\u3061\u3083\u3093\" class=\"wp-image-121578\"\/><\/figure><\/div>\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\u3092\u78ba\u5b9a\u3055\u305b\u308b\u305f\u3081\u306b\u306f\u3001\u8a73\u7d30\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>\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\u5931\u3092\u691c\u51fa\u3067\u304d\u308b\u691c\u67fb\u3067\u3059\u3002Xq22.3\u9818\u57df\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u3001\u307e\u305f\u305d\u306e\u6b20\u5931\u7bc4\u56f2\u304c\u3069\u3053\u304b\u3089\u3069\u3053\u307e\u3067\u306a\u306e\u304b\uff08\u3069\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\uff09\u3092\u6b63\u78ba\u306b\u8abf\u3079\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u3053\u308c\u304c\u78ba\u5b9a\u8a3a\u65ad\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E5%B0%BF%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A1%80%E6%B6%B2%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u2461 \u5c3f\u691c\u67fb\u30fb\u8840\u6db2\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c3f\u691c\u67fb<\/strong>: \u76ee\u306b\u898b\u3048\u306a\u3044\u8840\u5c3f\u3084\u30bf\u30f3\u30d1\u30af\u5c3f\u304c\u306a\u3044\u304b\u3092\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059\u3002\u65e9\u671f\u767a\u898b\u306e\u305f\u3081\u306e\u6700\u3082\u7c21\u5358\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8840\u6db2\u691c\u67fb<\/strong>: \u814e\u6a5f\u80fd\uff08\u30af\u30ec\u30a2\u30c1\u30cb\u30f3\u5024\u306a\u3069\uff09\u306e\u72b6\u614b\u3084\u3001\u6955\u5186\u8d64\u8840\u7403\u306e\u6709\u7121\u3092\u78ba\u8a8d\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%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u2462 \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>\u8d85\u97f3\u6ce2\uff08\u30a8\u30b3\u30fc\uff09\u3001CT\u3001MRI<\/strong>: \u814e\u81d3\u306e\u5f62\u3084\u3001\u98df\u9053\u30fb\u6c17\u7ba1\u652f\u306a\u3069\u306b\u5e73\u6ed1\u7b4b\u816b\u304c\u3067\u304d\u3066\u3044\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A3_%E7%B5%84%E7%B9%94%E7%94%9F%E6%A4%9C%EF%BC%88%E7%9A%AE%E8%86%9A%E3%83%BB%E8%85%8E%E8%87%93%EF%BC%89\"><\/span><strong>\u2463 \u7d44\u7e54\u751f\u691c\uff08\u76ae\u819a\u30fb\u814e\u81d3\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u3001\u76ae\u819a\u306e\u4e00\u90e8\u3084\u814e\u81d3\u306e\u7d44\u7e54\u3092\u5c11\u3057\u3060\u3051\u63a1\u53d6\u3057\u3001\u9855\u5fae\u93e1\u3067\u8a73\u3057\u304f\u8abf\u3079\u307e\u3059\u3002\u300cIV\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\u03b15\u9396\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u7d44\u7e54\u5185\u306b\u5b58\u5728\u3059\u308b\u304b\u3069\u3046\u304b\u3092\u898b\u308b\u3053\u3068\u3067\u3001\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306e\u78ba\u5b9a\u8a3a\u65ad\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\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\u7642\u3067\u306f\u3001\u6b20\u5931\u3057\u3066\u3044\u308b\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3059\u308b\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u75c7\u72b6\u3092\u548c\u3089\u3052\u3001\u9032\u884c\u3092\u9045\u3089\u305b\u3001\u5408\u4f75\u75c7\u3092\u9632\u3050\u305f\u3081\u306e\u300c\u5bfe\u75c7\u7642\u6cd5\u300d\u3068\u300c\u7ba1\u7406\u300d\u304c\u975e\u5e38\u306b\u91cd\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%85%8E%E8%87%93%E3%81%AE%E4%BF%9D%E8%AD%B7%EF%BC%88%E6%9C%80%E3%82%82%E9%87%8D%E8%A6%81%EF%BC%89\"><\/span><strong>\u814e\u81d3\u306e\u4fdd\u8b77\uff08\u6700\u3082\u91cd\u8981\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u85ac\u7269\u7642\u6cd5<\/strong>: \u30a2\u30f3\u30b8\u30aa\u30c6\u30f3\u30b7\u30f3\u5909\u63db\u9175\u7d20\uff08ACE\uff09\u963b\u5bb3\u85ac\u3084\u30a2\u30f3\u30b8\u30aa\u30c6\u30f3\u30b7\u30f3\u53d7\u5bb9\u4f53\u62ee\u6297\u85ac\uff08ARB\uff09\u3068\u3044\u3046\u8840\u5727\u306e\u85ac\u304c\u4f7f\u308f\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u814e\u81d3\u306b\u304b\u304b\u308b\u8ca0\u62c5\u3092\u6e1b\u3089\u3057\u3001\u30bf\u30f3\u30d1\u30af\u5c3f\u3092\u6e1b\u3089\u3057\u3066\u3001\u814e\u6a5f\u80fd\u304c\u60aa\u5316\u3059\u308b\u30b9\u30d4\u30fc\u30c9\u3092\u9045\u3089\u305b\u308b\u52b9\u679c\u304c\u3042\u308a\u307e\u3059\u3002\u65e9\u671f\u304b\u3089\u306e\u670d\u7528\u304c\u4e88\u5f8c\u3092\u6539\u5584\u3059\u308b\u3068\u8a00\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u7684\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0<\/strong>: \u6570\u30f6\u6708\u306b\u4e00\u5ea6\u306e\u5c3f\u691c\u67fb\u3068\u8840\u6db2\u691c\u67fb\u3067\u3001\u814e\u81d3\u306e\u72b6\u614b\u3092\u5e38\u306b\u628a\u63e1\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u4ee3\u66ff\u7642\u6cd5<\/strong>: \u5c06\u6765\u7684\u306b\u814e\u6a5f\u80fd\u304c\u8457\u3057\u304f\u4f4e\u4e0b\u3057\u305f\u5834\u5408\u306f\u3001\u900f\u6790\u7642\u6cd5\u3084\u814e\u79fb\u690d\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306b\u8d77\u56e0\u3059\u308b\u5834\u5408\u3001\u814e\u79fb\u690d\u306e\u6210\u7e3e\u306f\u4e00\u822c\u7684\u306b\u826f\u597d\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%81%B4%E8%A6%9A%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span><strong>\u8074\u899a\u306e\u30b5\u30dd\u30fc\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b9a\u671f\u7684\u306a\u8074\u529b\u691c\u67fb<\/strong>: \u5b66\u6821\u691c\u8a3a\u3060\u3051\u3067\u306a\u304f\u3001\u75c5\u9662\u3067\u306e\u7cbe\u5bc6\u306a\u8074\u529b\u691c\u67fb\u3092\u5b9a\u671f\u7684\u306b\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u88dc\u8074\u5668\u306e\u6d3b\u7528<\/strong>: \u96e3\u8074\u304c\u9032\u884c\u3057\u3001\u65e5\u5e38\u751f\u6d3b\u3084\u5b66\u7fd2\u306b\u652f\u969c\u304c\u51fa\u308b\u5834\u5408\u306f\u3001\u9069\u5207\u306a\u30bf\u30a4\u30df\u30f3\u30b0\u3067\u88dc\u8074\u5668\u3092\u4f7f\u7528\u3057\u307e\u3059\u3002\u8a00\u8a9e\u767a\u9054\u306e\u305f\u3081\u306b\u3082\u3001\u805e\u3053\u3048\u306e\u30b1\u30a2\u306f\u975e\u5e38\u306b\u5927\u5207\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B9%B3%E6%BB%91%E7%AD%8B%E8%85%AB%EF%BC%88%E9%A3%9F%E9%81%93%E3%81%AA%E3%81%A9%EF%BC%89%E3%81%B8%E3%81%AE%E5%AF%BE%E5%BF%9C\"><\/span><strong>\u5e73\u6ed1\u7b4b\u816b\uff08\u98df\u9053\u306a\u3069\uff09\u3078\u306e\u5bfe\u5fdc<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7d4c\u904e\u89b3\u5bdf<\/strong>: \u75c7\u72b6\u304c\u306a\u3044\u5834\u5408\u306f\u3001\u5b9a\u671f\u7684\u306a\u753b\u50cf\u691c\u67fb\u3067\u5927\u304d\u3055\u306e\u5909\u5316\u3092\u898b\u5b88\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5916\u79d1\u7684\u6cbb\u7642<\/strong>: \u56a5\u4e0b\u969c\u5bb3\uff08\u98f2\u307f\u8fbc\u307f\u306b\u304f\u3055\uff09\u3084\u547c\u5438\u56f0\u96e3\u306a\u3069\u306e\u75c7\u72b6\u304c\u5f37\u3044\u5834\u5408\u306f\u3001\u624b\u8853\u3067\u816b\u760d\u3092\u53d6\u308a\u9664\u304f\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=\"%E7%99%BA%E9%81%94%E3%83%BB%E7%99%82%E8%82%B2%E7%9A%84%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span><strong>\u767a\u9054\u30fb\u7642\u80b2\u7684\u30b5\u30dd\u30fc\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u7642\u80b2\uff08\u7406\u5b66\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\u306a\u3069\uff09\u3092\u884c\u3044\u307e\u3059\u3002\u304a\u5b50\u3055\u3093\u306e\u300c\u3067\u304d\u308b\u3053\u3068\u300d\u3092\u4f38\u3070\u3057\u3001\u751f\u6d3b\u3057\u3084\u3059\u304f\u3059\u308b\u305f\u3081\u306e\u74b0\u5883\u8abf\u6574\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E3%81%BE%E3%81%A8%E3%82%81%EF%BC%9A%E7%97%85%E6%B0%97%E3%81%A8%E3%81%AE%E4%BB%98%E3%81%8D%E5%90%88%E3%81%84%E6%96%B9\"><\/span><strong>6. \u307e\u3068\u3081\uff1a\u75c5\u6c17\u3068\u306e\u4ed8\u304d\u5408\u3044\u65b9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u67d3\u8272\u4f53Xq22.3\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u814e\u81d3\u3001\u8033\u3001\u305d\u3057\u3066\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u4ed6\u306e\u81d3\u5668\u306b\u3082\u5f71\u97ff\u304c\u53ca\u3076\u5168\u8eab\u6027\u306e\u75be\u60a3\u3067\u3059\u3002\u30dd\u30a4\u30f3\u30c8\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u767a\u898b\u30fb\u65e9\u671f\u7ba1\u7406\u304c\u9375<\/strong>: \u7279\u306b\u814e\u81d3\u306e\u30b1\u30a2\u306f\u3001\u65e9\u671f\u306b\u85ac\u7269\u7642\u6cd5\u3092\u958b\u59cb\u3059\u308b\u3053\u3068\u3067\u3001\u5c06\u6765\u306e\u814e\u4e0d\u5168\u307e\u3067\u306e\u671f\u9593\u3092\u5927\u5e45\u306b\u5ef6\u3070\u305b\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5305\u62ec\u7684\u306a\u533b\u7642\u4f53\u5236<\/strong>: \u5c0f\u5150\u79d1\uff08\u814e\u81d3\u5c02\u9580\u533b\uff09\u3001\u8033\u9f3b\u79d1\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u6d88\u5316\u5668\u79d1\u3084\u907a\u4f1d\u8a3a\u7642\u79d1\u306a\u3069\u3001\u8907\u6570\u306e\u5c02\u9580\u533b\u304c\u30c1\u30fc\u30e0\u3068\u306a\u3063\u3066\u304a\u5b50\u3055\u3093\u3092\u30b5\u30dd\u30fc\u30c8\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u691c\u8a3a\u3092\u6b20\u304b\u3055\u306a\u3044<\/strong>: \u75c7\u72b6\u304c\u843d\u3061\u7740\u3044\u3066\u3044\u308b\u3088\u3046\u306b\u898b\u3048\u3066\u3082\u3001\u4f53\u306e\u4e2d\u306e\u5909\u5316\u3092\u898b\u9003\u3055\u306a\u3044\u305f\u3081\u306b\u3001\u5b9a\u671f\u7684\u306a\u901a\u9662\u3092\u7d99\u7d9a\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n<\/ol>\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>\u5927\u5207\u306a\u304a\u5b50\u3055\u3093\u306b\u300c<a 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