{"id":121835,"date":"2026-01-07T17:46:58","date_gmt":"2026-01-07T08:46:58","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121835"},"modified":"2026-07-24T05:23:27","modified_gmt":"2026-07-23T20:23:27","slug":"chromosome-16p13-3-deletion-syndrome-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/","title":{"rendered":"16p13.3\u6b20\u5931\u75c7\u5019\u7fa4"},"content":{"rendered":"<p>\u304a\u5b50\u69d8\u304c\u300c16\u756a\u67d3\u8272\u4f53p13.3\u6b20\u5931\uff08Chromosome 16p13.3 deletion\uff09\u300d\u3068\u3044\u3046\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3068\u304d\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u6570\u5b57\u306e\u7f85\u5217\u306b\u3001\u8a00\u3044\u3088\u3046\u306e\u306a\u3044\u4e0d\u5b89\u3092\u611f\u3058\u3089\u308c\u305f\u3053\u3068\u3067\u3057\u3087\u3046\u3002<strong>\u7d50\u8ad6\u304b\u3089\u304a\u4f1d\u3048\u3059\u308b\u3068\u300116p13.3\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300c\u6b20\u5931\u3057\u3066\u3044\u308b\u7bc4\u56f2\u300d\u306b\u3088\u3063\u3066\u75c7\u72b6\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u75be\u60a3\u7fa4\u3067\u3042\u308a\u3001\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u304c\u5206\u304b\u308c\u3070\u898b\u901a\u3059\u3079\u304d\u30dd\u30a4\u30f3\u30c8\u3082\u5177\u4f53\u7684\u306b\u7d5e\u308a\u8fbc\u3081\u307e\u3059\u3002<\/strong><\/p>\n\n<p>\u5b9f\u306f\u3001\u3053\u306e\u300c16p13.3\u300d\u3068\u3044\u3046\u5834\u6240\u306f\u3001\u67d3\u8272\u4f53\u306e\u4e2d\u3067\u3082\u907a\u4f1d\u5b50\u306e\u5bc6\u5ea6\u304c\u975e\u5e38\u306b\u9ad8\u3044\u5834\u6240\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u3053\u3053\u304c\u6b20\u5931\u3059\u308b\u3068\u3001\u5358\u306a\u308b\u767a\u9054\u306e\u9045\u308c\u3060\u3051\u3067\u306a\u304f\u3001\u300c\u30eb\u30d3\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30bf\u30a4\u30d3\u75c7\u5019\u7fa4\u300d\u3084\u300cTSC2\/PKD1\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff08\u91cd\u75c7\u578b\u591a\u767a\u6027\u56a2\u80de\u814e\uff09\u300d\u3068\u3044\u3063\u305f\u3001\u7279\u5b9a\u306e\u540d\u524d\u304c\u3064\u3044\u305f\u75c5\u6c17\u306e\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n<p>\u533b\u5e2b\u304b\u3089\u8907\u6570\u306e\u75c5\u540d\u3092\u4f1d\u3048\u3089\u308c\u3066\u6df7\u4e71\u3055\u308c\u3066\u3044\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u306a\u305c\u305d\u306e\u3088\u3046\u306a\u3053\u3068\u304c\u8d77\u304d\u308b\u306e\u304b\u3001\u533b\u5b66\u7684\u306a\u4ed5\u7d44\u307f\u304b\u3089\u65e5\u3005\u306e\u751f\u6d3b\u3001\u78ba\u8a8d\u3057\u3066\u304a\u304d\u305f\u3044\u691c\u67fb\u3084\u76f8\u8ac7\u5148\u307e\u3067\u3001\u5c02\u9580\u7528\u8a9e\u3092\u565b\u307f\u7815\u3044\u3066\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n<div class=\"info-box\" style=\"margin:1.5em 0;padding:1.2em 1.4em;background:#f3f8ff;border-left:5px solid #5b9bd5;border-radius:8px;\">\n<p style=\"font-weight:bold;margin-bottom:0.6em;\">\ud83d\udca1 \u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin:0;padding-left:1.2em;\">\n<li>16p13.3\u6b20\u5931\u75c7\u5019\u7fa4\u304c\u306a\u305c\u300c3\u3064\u306e\u75c5\u6c17\u300d\u3068\u3057\u3066\u8a9e\u3089\u308c\u308b\u306e\u304b<\/li>\n<li>\u6b20\u5931\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u3054\u3068\u306e\u75c7\u72b6\u30fb\u5408\u4f75\u75c7\u306e\u9055\u3044<\/li>\n<li>\u539f\u56e0\u306f\u89aa\u306e\u8cac\u4efb\u3067\u306f\u306a\u3044\u3053\u3068\u3001\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u907a\u4f1d\u78ba\u7387\u306e\u8003\u3048\u65b9<\/li>\n<li>\u78ba\u5b9a\u8a3a\u65ad\u306b\u4f7f\u3046\u691c\u67fb\u3068\u3001\u7d4c\u904e\u89b3\u5bdf\u3067\u5fc5\u8981\u306b\u306a\u308b\u753b\u50cf\u691c\u67fb<\/li>\n<li>\u7642\u80b2\u30fb\u5c02\u9580\u5916\u6765\u30fb\u60a3\u8005\u4f1a\u306a\u3069\u3001\u983c\u308c\u308b\u76f8\u8ac7\u5148\u306e\u63a2\u3057\u65b9<\/li>\n<\/ul>\n<\/div>\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E3%80%8C%E4%BD%8F%E6%89%80%E3%80%8D%E3%82%92%E8%AA%AD%E3%81%BF%E8%A7%A3%E3%81%8F\" >\u67d3\u8272\u4f53\u306e\u300c\u4f4f\u6240\u300d\u3092\u8aad\u307f\u89e3\u304f<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#%E5%90%AB%E3%81%BE%E3%82%8C%E3%82%8B%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%80%8C3%E3%81%A4%E3%81%AE%E3%83%91%E3%82%BF%E3%83%BC%E3%83%B3%E3%80%8D\" >\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u3068\u300c3\u3064\u306e\u30d1\u30bf\u30fc\u30f3\u300d<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#%E3%83%91%E3%82%BF%E3%83%BC%E3%83%B3A%EF%BC%9ACREBBP%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%8C%E6%AC%A0%E5%A4%B1%E3%81%97%E3%81%A6%E3%81%84%E3%82%8B%E5%A0%B4%E5%90%88%EF%BC%88%E3%83%AB%E3%83%93%E3%83%B3%E3%82%B7%E3%83%A5%E3%82%BF%E3%82%A4%E3%83%B3%E3%83%BB%E3%82%BF%E3%82%A4%E3%83%93%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%89\" >\u30d1\u30bf\u30fc\u30f3A\uff1aCREBBP\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u5834\u5408\uff08\u30eb\u30d3\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30bf\u30a4\u30d3\u75c7\u5019\u7fa4\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#%E3%83%91%E3%82%BF%E3%83%BC%E3%83%B3B%EF%BC%9ATSC2%E3%81%A8PKD1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%8C%E6%AC%A0%E5%A4%B1%E3%81%97%E3%81%A6%E3%81%84%E3%82%8B%E5%A0%B4%E5%90%88%EF%BC%88TSC2PKD1%E9%9A%A3%E6%8E%A5%E9%81%BA%E4%BC%9D%E5%AD%90%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%89\" >\u30d1\u30bf\u30fc\u30f3B\uff1aTSC2\u3068PKD1\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u5834\u5408\uff08TSC2\/PKD1\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#%E3%83%91%E3%82%BF%E3%83%BC%E3%83%B3C%EF%BC%9AHBA%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%8C%E6%AC%A0%E5%A4%B1%E3%81%97%E3%81%A6%E3%81%84%E3%82%8B%E5%A0%B4%E5%90%88%EF%BC%88%E3%82%A2%E3%83%AB%E3%83%95%E3%82%A1%E3%82%B5%E3%83%A9%E3%82%BB%E3%83%9F%E3%82%A2%EF%BC%89\" >\u30d1\u30bf\u30fc\u30f3C\uff1aHBA\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u5834\u5408\uff08\u30a2\u30eb\u30d5\u30a1\u30b5\u30e9\u30bb\u30df\u30a2\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%9A%E3%83%91%E3%82%BF%E3%83%BC%E3%83%B3%E3%81%94%E3%81%A8%E3%81%AE%E7%89%B9%E5%BE%B4\" >\u4e3b\u306a\u75c7\u72b6\uff1a\u30d1\u30bf\u30fc\u30f3\u3054\u3068\u306e\u7279\u5fb4<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#1_%E3%83%AB%E3%83%93%E3%83%B3%E3%82%B7%E3%83%A5%E3%82%BF%E3%82%A4%E3%83%B3%E3%83%BB%E3%82%BF%E3%82%A4%E3%83%93%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88CREBBP%E6%AC%A0%E5%A4%B1%EF%BC%89%E3%81%AE%E7%97%87%E7%8A%B6\" >1. \u30eb\u30d3\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30bf\u30a4\u30d3\u75c7\u5019\u7fa4\uff08CREBBP\u6b20\u5931\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-16p13-3-deletion-syndrome-guide\/#2_TSC2PKD1%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%81%AE%E7%97%87%E7%8A%B6\" >2. TSC2\/PKD1\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u306e\u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#3_%E3%82%A2%E3%83%AB%E3%83%95%E3%82%A1%E3%82%B5%E3%83%A9%E3%82%BB%E3%83%9F%E3%82%A2%EF%BC%88HBA%E6%AC%A0%E5%A4%B1%EF%BC%89%E3%81%AE%E7%97%87%E7%8A%B6\" >3. \u30a2\u30eb\u30d5\u30a1\u30b5\u30e9\u30bb\u30df\u30a2\uff08HBA\u6b20\u5931\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-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#4_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%85%B1%E9%80%9A%E3%81%97%E3%82%84%E3%81%99%E3%81%84%E7%97%87%E7%8A%B6\" >4. \u305d\u306e\u4ed6\u306e\u5171\u901a\u3057\u3084\u3059\u3044\u75c7\u72b6<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#%E5%8E%9F%E5%9B%A0%E3%81%A8%E9%81%BA%E4%BC%9D%E3%81%AE%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0%EF%BC%9A%E8%A6%AA%E3%81%AE%E8%B2%AC%E4%BB%BB%E3%81%A7%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%9B%E3%82%93\" >\u539f\u56e0\u3068\u907a\u4f1d\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\uff1a\u89aa\u306e\u8cac\u4efb\u3067\u306f\u3042\u308a\u307e\u305b\u3093<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#1_%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\" >1. \u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#2_%E8%A6%AA%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E8%BB%A2%E5%BA%A7%EF%BC%88%E3%81%BE%E3%82%8C%E3%81%AA%E3%82%B1%E3%83%BC%E3%82%B9%EF%BC%89\" >2. \u89aa\u306e\u67d3\u8272\u4f53\u8ee2\u5ea7\uff08\u307e\u308c\u306a\u30b1\u30fc\u30b9\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#3_%E3%83%8F%E3%83%97%E3%83%AD%E4%B8%8D%E5%85%A8%EF%BC%88Haploinsufficiency%EF%BC%89\" >3. \u30cf\u30d7\u30ed\u4e0d\u5168\uff08Haploinsufficiency\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB%EF%BC%9A%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%AB%E5%BF%85%E8%A6%81%E3%81%AA%E3%82%B9%E3%83%86%E3%83%83%E3%83%97\" >\u8a3a\u65ad\u3068\u691c\u67fb\uff1a\u78ba\u5b9a\u8a3a\u65ad\u306b\u5fc5\u8981\u306a\u30b9\u30c6\u30c3\u30d7<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#1_%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\" >1. \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-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#2_FISH%E6%B3%95\" >2. FISH\u6cd5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#3_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\" >3. \u753b\u50cf\u691c\u67fb<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#%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\" >\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#1_%E3%83%AB%E3%83%93%E3%83%B3%E3%82%B7%E3%83%A5%E3%82%BF%E3%82%A4%E3%83%B3%E3%83%BB%E3%82%BF%E3%82%A4%E3%83%93%E5%9E%8B%EF%BC%88CREBBP%E6%AC%A0%E5%A4%B1%EF%BC%89%E3%81%AE%E5%A0%B4%E5%90%88\" >1. \u30eb\u30d3\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30bf\u30a4\u30d3\u578b\uff08CREBBP\u6b20\u5931\uff09\u306e\u5834\u5408<\/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-16p13-3-deletion-syndrome-guide\/#2_TSC2PKD1%E5%9E%8B%E3%81%AE%E5%A0%B4%E5%90%88\" >2. TSC2\/PKD1\u578b\u306e\u5834\u5408<\/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-16p13-3-deletion-syndrome-guide\/#3_%E5%85%A8%E4%BD%93%E7%9A%84%E3%81%AA%E7%99%82%E8%82%B2%EF%BC%88%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%89\" >3. \u5168\u4f53\u7684\u306a\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/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-16p13-3-deletion-syndrome-guide\/#%E6%97%A5%E3%80%85%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E5%B7%A5%E5%A4%AB\" >\u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b<\/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-16p13-3-deletion-syndrome-guide\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F%EF%BC%88FAQ%EF%BC%89\" >\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#%E5%AF%BF%E5%91%BD%E3%81%AB%E5%BD%B1%E9%9F%BF%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >\u5bff\u547d\u306b\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >\u6b21\u306e\u5b50\u306b\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#%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%E3%81%AF%E3%81%A9%E3%81%93%E3%81%A7%E5%8F%97%E3%81%91%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306f\u3069\u3053\u3067\u53d7\u3051\u3089\u308c\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#%E5%AD%A6%E6%A0%A1%E7%94%9F%E6%B4%BB%E3%82%84%E7%99%82%E8%82%B2%E6%89%8B%E5%B8%B3%E3%81%AE%E5%AF%BE%E8%B1%A1%E3%81%AB%E3%81%AA%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >\u5b66\u6821\u751f\u6d3b\u3084\u7642\u80b2\u624b\u5e33\u306e\u5bfe\u8c61\u306b\u306a\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#%E3%81%8D%E3%82%87%E3%81%86%E3%81%A0%E3%81%84%E5%85%90%E3%81%AB%E3%81%AF%E3%81%A9%E3%81%86%E4%BC%9D%E3%81%88%E3%82%8C%E3%81%B0%E3%82%88%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >\u304d\u3087\u3046\u3060\u3044\u5150\u306b\u306f\u3069\u3046\u4f1d\u3048\u308c\u3070\u3088\u3044\u3067\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-31\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#%E3%82%BB%E3%82%AB%E3%83%B3%E3%83%89%E3%82%AA%E3%83%94%E3%83%8B%E3%82%AA%E3%83%B3%E3%81%AF%E5%8F%97%E3%81%91%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >\u30bb\u30ab\u30f3\u30c9\u30aa\u30d4\u30cb\u30aa\u30f3\u306f\u53d7\u3051\u3089\u308c\u307e\u3059\u304b\uff1f<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-32\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#%E3%81%BE%E3%81%A8%E3%82%81\" >\u307e\u3068\u3081<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-33\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#%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%EF%BC%9A%E8%A4%87%E9%9B%91%E3%81%AA%E8%A8%BA%E6%96%AD%E5%90%8D%E3%81%AB%E6%83%91%E3%82%8F%E3%81%95%E3%82%8C%E3%81%AA%E3%81%84%E3%81%A7\" >\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8\uff1a\u8907\u96d1\u306a\u8a3a\u65ad\u540d\u306b\u60d1\u308f\u3055\u308c\u306a\u3044\u3067<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-34\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/#%E6%AC%A1%E3%81%AE%E3%82%A2%E3%82%AF%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%9A%E3%81%BE%E3%81%9A%E7%A2%BA%E8%AA%8D%E3%81%97%E3%81%9F%E3%81%84%E3%81%93%E3%81%A8\" >\u6b21\u306e\u30a2\u30af\u30b7\u30e7\u30f3\uff1a\u307e\u305a\u78ba\u8a8d\u3057\u305f\u3044\u3053\u3068<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2><span class=\"ez-toc-section\" id=\"%E7%B5%90%E8%AB%96%EF%BC%9A16p133%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E4%BD%95%E3%81%8B\"><\/span>\u7d50\u8ad6\uff1a16p13.3\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u4f55\u304b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><strong>16p13.3\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300116\u756a\u67d3\u8272\u4f53\u306e\u672b\u7aef\u90e8\u5206\u304c\u5931\u308f\u308c\u305f\u3053\u3068\u3067\u8d77\u3053\u308b\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3001\u6b20\u3051\u3066\u3044\u308b\u907a\u4f1d\u5b50\u306e\u7a2e\u985e\u306b\u3088\u3063\u3066\u73fe\u308c\u308b\u75c5\u6c17\u304c\u5909\u308f\u308a\u307e\u3059\u3002<\/strong>\u30d2\u30c8\u306e\u7d30\u80de\u306b\u3042\u308b46\u672c\u306e\u67d3\u8272\u4f53\u306e\u3046\u3061\u300116\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\uff09\u306e\u672b\u7aef\u300c13.3\u300d\u9818\u57df\u304c\u5931\u308f\u308c\u3066\u3044\u308b\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E3%80%8C%E4%BD%8F%E6%89%80%E3%80%8D%E3%82%92%E8%AA%AD%E3%81%BF%E8%A7%A3%E3%81%8F\"><\/span>\u67d3\u8272\u4f53\u306e\u300c\u4f4f\u6240\u300d\u3092\u8aad\u307f\u89e3\u304f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n<p>\u3053\u306e\u8907\u96d1\u306a\u540d\u524d\u306f\u3001\u67d3\u8272\u4f53\u306e\u3069\u3053\u306b\u5909\u5316\u304c\u8d77\u304d\u3066\u3044\u308b\u304b\u3068\u3044\u3046\u300c\u4f4f\u6240\u300d\u3092\u8868\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n<ul>\n<li>Chromosome 16\uff0816\u756a\u67d3\u8272\u4f53\uff09\uff1a\u30d2\u30c8\u306e23\u5bfe\u306e\u67d3\u8272\u4f53\u306e\u3046\u3061\u3001\u4e2d\u304f\u3089\u3044\u306e\u5927\u304d\u3055\u3092\u6301\u306416\u756a\u76ee\u306e\u67d3\u8272\u4f53\u3067\u3059\u3002<\/li>\n<li>p\uff08\u77ed\u8155\uff09\uff1a\u67d3\u8272\u4f53\u306b\u306f\u304f\u3073\u308c\uff08\u52d5\u539f\u4f53\uff09\u304c\u3042\u308a\u3001\u77ed\u3044\u65b9\u3092\u77ed\u8155\uff08p\uff09\u3001\u9577\u3044\u65b9\u3092\u9577\u8155\uff08q\uff09\u3068\u547c\u3073\u307e\u3059\u3002\u4eca\u56de\u306f\u77ed\u3044\u65b9\u306e\u8155\u306b\u5909\u5316\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<li>13.3\uff08\u9818\u57df\uff09\uff1a\u77ed\u8155\u306e\u4e00\u756a\u672b\u7aef\u306b\u3042\u308b\u300c13.3\u756a\u300d\u3068\u3044\u3046\u533a\u753b\u3092\u6307\u3057\u307e\u3059\u3002<\/li>\n<li>Deletion\uff08\u6b20\u5931\uff09\uff1a\u305d\u306e\u90e8\u5206\u306e\u907a\u4f1d\u60c5\u5831\u304c\u629c\u3051\u843d\u3061\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n<\/ul>\n\n<p>\u67d3\u8272\u4f53\u3092\u300c\u516846\u5dfb\u306e\u767e\u79d1\u4e8b\u5178\uff08\u4f53\u306e\u8a2d\u8a08\u56f3\uff09\u300d\u306b\u4f8b\u3048\u308b\u306a\u3089\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306f\u7b2c16\u5dfb\u306e\u6700\u521d\u306e\u7ae0\uff08p13.3\uff09\u304c\u629c\u3051\u843d\u3061\u3066\u3057\u307e\u3063\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002\u3053\u306e\u5931\u308f\u308c\u305f\u30da\u30fc\u30b8\u306b\u306f\u3001\u4f53\u306e\u5f62\u6210\u3084\u8133\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u3044\u304f\u3064\u3082\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u3069\u306e\u7bc4\u56f2\u307e\u3067\u30da\u30fc\u30b8\u304c\u629c\u3051\u3066\u3044\u308b\u304b\uff08\u6b20\u5931\u30b5\u30a4\u30ba\uff09\u306b\u3088\u3063\u3066\u3001\u304a\u5b50\u69d8\u306e\u75c7\u72b6\u304c\u5927\u304d\u304f\u5909\u308f\u3063\u3066\u304f\u308b\u306e\u304c\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306e\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002\u67d3\u8272\u4f53\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u305d\u306e\u3082\u306e\u306e\u4ed5\u7d44\u307f\u306b\u3064\u3044\u3066\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u67d3\u8272\u4f53\u306e\u90e8\u5206\u6b20\u5931\u3068\u306f\uff1f<\/a>\u3067\u3082\u6574\u7406\u3057\u3066\u3044\u307e\u3059\u306e\u3067\u3001\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n<figure class=\"wp-block-image aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"585\" src=\"\/nipt\/wp-content\/uploads\/2025\/11\/image-84-1024x585.webp\" alt=\"16\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155p13.3\u9818\u57df\u3092\u793a\u3059\u6a21\u5f0f\u56f3\" class=\"wp-image-119752\"\/><\/figure>\n\n<h2><span class=\"ez-toc-section\" id=\"%E5%90%AB%E3%81%BE%E3%82%8C%E3%82%8B%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%80%8C3%E3%81%A4%E3%81%AE%E3%83%91%E3%82%BF%E3%83%BC%E3%83%B3%E3%80%8D\"><\/span>\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u3068\u300c3\u3064\u306e\u30d1\u30bf\u30fc\u30f3\u300d<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><strong>16p13.3\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u6b20\u3051\u3066\u3044\u308b\u907a\u4f1d\u5b50\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u3088\u3063\u3066\u4e3b\u306b3\u3064\u306e\u30d1\u30bf\u30fc\u30f3\u306b\u5206\u304b\u308c\u3001\u305d\u308c\u305e\u308c\u5225\u306e\u75c5\u540d\u3067\u547c\u3070\u308c\u307e\u3059\u3002<\/strong>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u5206\u304b\u308a\u306b\u304f\u3044\u306e\u306f\u3001\u300c16p13.3\u6b20\u5931\u3067\u3059\u300d\u3068\u8a00\u308f\u308c\u305f\u306e\u306b\u3001\u8abf\u3079\u308b\u3068\u5168\u304f\u9055\u3046\u75c5\u6c17\u306e\u540d\u524d\u304c\u51fa\u3066\u304f\u308b\u3053\u3068\u3067\u306f\u306a\u3044\u3067\u3057\u3087\u3046\u304b\u3002\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u4e3b\u306b\u6b21\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n<table><thead><tr><th>\u907a\u4f1d\u5b50<\/th><th>\u4e3b\u306a\u306f\u305f\u3089\u304d<\/th><th>\u6b20\u5931\u6642\u306b\u751f\u3058\u3046\u308b\u75c5\u6c17<\/th><\/tr><\/thead><tbody>\n<tr><td>CREBBP<\/td><td>\u8133\u306e\u767a\u9054\u3084\u9aa8\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b<\/td><td>\u30eb\u30d3\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30bf\u30a4\u30d3\u75c7\u5019\u7fa4<\/td><\/tr>\n<tr><td>TSC2\u30fbPKD1<\/td><td>\u816b\u760d\u306e\u6291\u5236\u3001\u814e\u81d3\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\uff08\u96a3\u63a5\u907a\u4f1d\u5b50\uff09<\/td><td>TSC2\/PKD1\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff08\u91cd\u75c7\u578b\u591a\u767a\u6027\u56a2\u80de\u814e\uff09<\/td><\/tr>\n<tr><td>HBA1\u30fbHBA2<\/td><td>\u8d64\u8840\u7403\uff08\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\uff09\u3092\u4f5c\u308b<\/td><td>\u30a2\u30eb\u30d5\u30a1\u30b5\u30e9\u30bb\u30df\u30a2<\/td><\/tr>\n<\/tbody><\/table>\n\n<h3><span class=\"ez-toc-section\" id=\"%E3%83%91%E3%82%BF%E3%83%BC%E3%83%B3A%EF%BC%9ACREBBP%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%8C%E6%AC%A0%E5%A4%B1%E3%81%97%E3%81%A6%E3%81%84%E3%82%8B%E5%A0%B4%E5%90%88%EF%BC%88%E3%83%AB%E3%83%93%E3%83%B3%E3%82%B7%E3%83%A5%E3%82%BF%E3%82%A4%E3%83%B3%E3%83%BB%E3%82%BF%E3%82%A4%E3%83%93%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%89\"><\/span>\u30d1\u30bf\u30fc\u30f3A\uff1aCREBBP\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u5834\u5408\uff08\u30eb\u30d3\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30bf\u30a4\u30d3\u75c7\u5019\u7fa4\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n<p>\u6700\u3082\u591a\u304f\u898b\u3089\u308c\u308b\u30d1\u30bf\u30fc\u30f3\u306e\u4e00\u3064\u3067\u3001\u5e45\u5e83\u3044\u89aa\u6307\u30fb\u8db3\u306e\u6307\u3001\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3046\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308bCREBBP\u305d\u306e\u3082\u306e\u306b\u3064\u3044\u3066\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rubinstein-taybi-syndrome-crebbp\/\">Rubinstein-Taybi\u75c7\u5019\u7fa4\uff08CREBBP\u907a\u4f1d\u5b50\uff09<\/a>\u306e\u89e3\u8aac\u8a18\u4e8b\u3067\u8a73\u3057\u304f\u53d6\u308a\u4e0a\u3052\u3066\u3044\u307e\u3059\u3002\u56fd\u969b\u7684\u306a\u81e8\u5e8a\u60c5\u5831\u306f\u3001\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u306eGeneReviews\u306b\u3088\u308b<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1526\/\" target=\"_blank\" rel=\"noopener\">Rubinstein-Taybi Syndrome<\/a>\u306b\u3082\u307e\u3068\u307e\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"%E3%83%91%E3%82%BF%E3%83%BC%E3%83%B3B%EF%BC%9ATSC2%E3%81%A8PKD1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%8C%E6%AC%A0%E5%A4%B1%E3%81%97%E3%81%A6%E3%81%84%E3%82%8B%E5%A0%B4%E5%90%88%EF%BC%88TSC2PKD1%E9%9A%A3%E6%8E%A5%E9%81%BA%E4%BC%9D%E5%AD%90%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%89\"><\/span>\u30d1\u30bf\u30fc\u30f3B\uff1aTSC2\u3068PKD1\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u5834\u5408\uff08TSC2\/PKD1\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n<p>\u7d50\u7bc0\u6027\u786c\u5316\u75c7\uff08TSC\uff09\u3068\u591a\u767a\u6027\u56a2\u80de\u814e\uff08PKD\uff09\u306e\u4e21\u65b9\u306e\u7279\u5fb4\u3092\u4f75\u305b\u6301\u3064\u30d1\u30bf\u30fc\u30f3\u3067\u3001\u91cd\u7be4\u306a\u814e\u81d3\u306e\u554f\u984c\u304c\u4e73\u5150\u671f\u304b\u3089\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e2\u3064\u306e\u907a\u4f1d\u5b50\u306f\u96a3\u308a\u5408\u3063\u3066\u3044\u308b\u305f\u3081\u3001\u7247\u65b9\u3060\u3051\u3067\u306a\u304f\u4e21\u65b9\u304c\u540c\u6642\u306b\u6b20\u3051\u3084\u3059\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n<p>\u3053\u306e\u7d44\u307f\u5408\u308f\u305b\u306f\u533b\u5b66\u6587\u732e\u3067\u306f\u300cTSC2\/PKD1\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff08PKDTS\uff09\u300d\u3068\u547c\u3070\u308c\u3001\u5f53\u30b5\u30a4\u30c8\u3067\u3082<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/polycystic-kidney-disease-infantile-severe-with-tuberous-sclerosis-pkdts\/\">\u591a\u767a\u6027\u56a2\u80de\u814e\u75be\u60a3\u3001\u91cd\u75c7\u578b\u5c0f\u5150\u671f\u578b\u3001\u7d50\u7bc0\u6027\u786c\u5316\u75c7\u5408\u4f75\uff08PKDTS\uff09<\/a>\u3068\u3057\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002\u7d50\u7bc0\u6027\u786c\u5316\u75c7\u306f\u65e5\u672c\u3067\u306f\u6307\u5b9a\u96e3\u75c5158\u53f7\u306b\u3042\u305f\u308a\u3001<a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4384\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u306e\u7d50\u7bc0\u6027\u786c\u5316\u75c7\u306e\u30da\u30fc\u30b8<\/a>\u3067\u533b\u7642\u8cbb\u52a9\u6210\u306e\u4ed5\u7d44\u307f\u3082\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002\u6d77\u5916\u306e\u75c7\u4f8b\u5831\u544a\u3068\u3057\u3066\u306f\u3001\u3053\u306e\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3092\u521d\u3081\u3066\u5831\u544a\u3057\u305f\u8ad6\u6587\u3067\u3042\u308b<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/7894481\/\" target=\"_blank\" rel=\"noopener\">Brook-Carter\u3089\u306e\u539f\u8457\u8ad6\u6587<\/a>\u3084\u3001GeneReviews\u306e<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1220\/\" target=\"_blank\" rel=\"noopener\">Tuberous Sclerosis Complex<\/a>\u304c\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"%E3%83%91%E3%82%BF%E3%83%BC%E3%83%B3C%EF%BC%9AHBA%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%8C%E6%AC%A0%E5%A4%B1%E3%81%97%E3%81%A6%E3%81%84%E3%82%8B%E5%A0%B4%E5%90%88%EF%BC%88%E3%82%A2%E3%83%AB%E3%83%95%E3%82%A1%E3%82%B5%E3%83%A9%E3%82%BB%E3%83%9F%E3%82%A2%EF%BC%89\"><\/span>\u30d1\u30bf\u30fc\u30f3C\uff1aHBA\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u5834\u5408\uff08\u30a2\u30eb\u30d5\u30a1\u30b5\u30e9\u30bb\u30df\u30a2\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n<p>\u8840\u6db2\u4e2d\u306e\u9178\u7d20\u3092\u904b\u3076\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\u304c\u3046\u307e\u304f\u4f5c\u308c\u305a\u3001\u8ca7\u8840\u306e\u4e00\u7a2e\u3067\u3042\u308b\u30a2\u30eb\u30d5\u30a1\u30b5\u30e9\u30bb\u30df\u30a2\u304c\u751f\u3058\u307e\u3059\u300216\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306e\u6b20\u5931\u306b\u4f34\u3046\u578b\u306f\u300cATR-16\u75c7\u5019\u7fa4\u300d\u3068\u3082\u547c\u3070\u308c\u3001\u5f53\u30b5\u30a4\u30c8\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alpha-thalassemia-mental-retardation-syndrome-chromosome-16-related-atr-16-syndrome-16p13\/\">Alpha-thalassemia\/\u77e5\u7684\u969c\u5bb3\u75c7\u5019\u7fa4\uff08ATR-16\u75c7\u5019\u7fa4\uff09<\/a>\u3067\u6b20\u5931\u7bc4\u56f2\u3068\u75c7\u72b6\u306e\u95a2\u4fc2\u3092\u8a73\u8ff0\u3057\u3066\u3044\u307e\u3059\u3002\u8840\u6db2\u75be\u60a3\u3068\u3057\u3066\u306e\u57fa\u790e\u77e5\u8b58\u306f\u3001\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u306e<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/alpha-thalassemia\/\" target=\"_blank\" rel=\"noopener\">MedlinePlus Genetics\u306e\u30a2\u30eb\u30d5\u30a1\u30b5\u30e9\u30bb\u30df\u30a2\u89e3\u8aac<\/a>\u3067\u3082\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/p>\n\n<p>\u203b\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u3044\u5834\u5408\u3001\u3053\u308c\u3089\u304c\u5408\u4f75\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001\u30eb\u30d3\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30bf\u30a4\u30d3\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u3092\u6301\u3061\u306a\u304c\u3089\u3001\u8ca7\u8840\u3082\u4f75\u305b\u6301\u3064\u30b1\u30fc\u30b9\u306a\u3069\u3067\u3059\u3002\u4e3b\u6cbb\u533b\u306b\u300c\u3069\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u300d\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u3001\u7406\u89e3\u306e\u7b2c\u4e00\u6b69\u306b\u306a\u308a\u307e\u3059\u3002\u53cd\u5bfe\u306b\u3001\u540c\u3058\u9818\u57df\u304c\u300c\u91cd\u8907\u300d\u3057\u3066\u3044\u308b\u5834\u5408\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-duplication-syndrome-guide\/\">16p13.3\u91cd\u8907\u75c7\u5019\u7fa4<\/a>\u3068\u3044\u3046\u5225\u306e\u75c5\u614b\u306b\u306a\u308a\u3001\u6b20\u5931\u3068\u306f\u7570\u306a\u308b\u7d4c\u904e\u3092\u305f\u3069\u308a\u307e\u3059\u3002<\/p>\n\n<h2><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%9A%E3%83%91%E3%82%BF%E3%83%BC%E3%83%B3%E3%81%94%E3%81%A8%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span>\u4e3b\u306a\u75c7\u72b6\uff1a\u30d1\u30bf\u30fc\u30f3\u3054\u3068\u306e\u7279\u5fb4<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><strong>\u75c7\u72b6\u306f\u6b20\u5931\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u304a\u5b50\u69d8\u306b\u5f53\u3066\u306f\u307e\u308b\u90e8\u5206\u3092\u4e2d\u5fc3\u306b\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong>\u3053\u3053\u3067\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u30d1\u30bf\u30fc\u30f3\u3054\u3068\u306e\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u3092\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"1_%E3%83%AB%E3%83%93%E3%83%B3%E3%82%B7%E3%83%A5%E3%82%BF%E3%82%A4%E3%83%B3%E3%83%BB%E3%82%BF%E3%82%A4%E3%83%93%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88CREBBP%E6%AC%A0%E5%A4%B1%EF%BC%89%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span>1. \u30eb\u30d3\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30bf\u30a4\u30d3\u75c7\u5019\u7fa4\uff08CREBBP\u6b20\u5931\uff09\u306e\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n<p>\u3082\u3057\u533b\u5e2b\u304b\u3089\u3053\u306e\u75c5\u540d\u3092\u544a\u3052\u3089\u308c\u3066\u3044\u308b\u5834\u5408\u3001\u4ee5\u4e0b\u306e\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n<ul>\n<li>\u624b\u6307\u30fb\u8db3\u6307\u306e\u7279\u5fb4\uff1a\u89aa\u6307\u3068\u8db3\u306e\u89aa\u6307\u304c\u3001\u5e73\u305f\u304f\u3066\u5e45\u5e83\u3044\uff08\u3078\u3089\u72b6\uff09\u5f62\u3092\u3057\u3066\u3044\u308b\u306e\u304c\u5927\u304d\u306a\u7279\u5fb4\u3067\u3059\u3002\u6642\u306b\u89aa\u6307\u304c\u66f2\u304c\u3063\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<li>\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\uff1a\u7709\u6bdb\u304c\u592a\u304f\u6fc3\u3044\u3001\u30a2\u30fc\u30c1\u72b6\u3002\u307e\u3064\u6bdb\u304c\u9577\u3044\u3002\u76ee\u304c\u4e0b\u304c\u308a\u6c17\u5473\uff08\u773c\u77bc\u88c2\u659c\u4e0b\uff09\u3002\u9f3b\u67f1\uff08\u9f3b\u306e\u771f\u3093\u4e2d\u306e\u58c1\uff09\u304c\u4e0b\u306b\u4f38\u3073\u3066\u3044\u308b\u3002\u7b11\u3063\u305f\u6642\u306b\u76ee\u3092\u7d30\u3081\u308b\u8868\u60c5\u304c\u611b\u3089\u3057\u3044\u3068\u8a00\u308f\u308c\u307e\u3059\u3002<\/li>\n<li>\u767a\u9054\u3068\u77e5\u80fd\uff1a\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u8a00\u8449\u306e\u9045\u308c\u3084\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n<li>\u4f4e\u8eab\u9577\u30fb\u5c0f\u982d\u75c7\uff1a\u8eab\u9577\u3084\u982d\u56f2\u306e\u4f38\u3073\u304c\u3086\u3063\u304f\u308a\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n<p>\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u75be\u60a3\u306e\u305f\u3081\u3001\u4e0a\u8a18\u3059\u3079\u3066\u304c\u63c3\u3046\u3068\u306f\u9650\u308a\u307e\u305b\u3093\u3002\u6c17\u306b\u306a\u308b\u9805\u76ee\u304c\u3042\u308c\u3070\u3001\u307e\u305a\u306f\u6b21\u56de\u306e\u8a3a\u5bdf\u3067\u4e3b\u6cbb\u533b\u3078\u306e\u78ba\u8a8d\u3092\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"2_TSC2PKD1%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%81%AE%E7%97%87%E7%8A%B6\"><\/span>2. TSC2\/PKD1\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u306e\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n<p>\u3082\u3057\u814e\u81d3\u306e\u554f\u984c\u3092\u6307\u6458\u3055\u308c\u3066\u3044\u308b\u5834\u5408\u3001\u3053\u3061\u3089\u306b\u8a72\u5f53\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n<ul>\n<li>\u591a\u767a\u6027\u56a2\u80de\u814e\uff08PKD\uff09\uff1a\u814e\u81d3\u306b\u591a\u6570\u306e\u56a2\u80de\uff08\u6c34\u98a8\u8239\u306e\u3088\u3046\u306a\u888b\uff09\u304c\u3067\u304d\u3001\u814e\u81d3\u306e\u306f\u305f\u3089\u304d\u304c\u60aa\u304f\u306a\u308b\u75c5\u6c17\u3067\u3059\u3002\u901a\u5e38\u306f\u6210\u4eba\u671f\u306e\u75c5\u6c17\u3067\u3059\u304c\u3001\u3053\u306e\u6b20\u5931\u306e\u5834\u5408\u306f\u80ce\u5150\u671f\u3084\u4e73\u5150\u671f\u304b\u3089\u91cd\u7be4\u306a\u75c7\u72b6\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<li>\u7d50\u7bc0\u6027\u786c\u5316\u75c7\uff08TSC\uff09\uff1a\u5168\u8eab\u306b\u826f\u6027\u306e\u816b\u760d\u304c\u3067\u304d\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002\u8133\u3067\u306f\u3066\u3093\u304b\u3093\u767a\u4f5c\u3084\u767a\u9054\u9045\u6ede\u306e\u539f\u56e0\u306b\u306a\u308a\u3001\u5fc3\u81d3\u3067\u306f\u6a2a\u7d0b\u7b4b\u816b\uff08\u826f\u6027\u306e\u816b\u760d\uff09\u3001\u76ae\u819a\u3067\u306f\u767d\u6591\uff08\u767d\u3044\u3042\u3056\uff09\u306a\u3069\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n<p>\u814e\u6a5f\u80fd\u306f\u5e74\u5358\u4f4d\u3067\u3086\u3063\u304f\u308a\u5909\u5316\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u7d4c\u904e\u89b3\u5bdf\u3092\u6b20\u304b\u3055\u306a\u3044\u3088\u3046\u306b\u3057\u307e\u3057\u3087\u3046\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"3_%E3%82%A2%E3%83%AB%E3%83%95%E3%82%A1%E3%82%B5%E3%83%A9%E3%82%BB%E3%83%9F%E3%82%A2%EF%BC%88HBA%E6%AC%A0%E5%A4%B1%EF%BC%89%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span>3. \u30a2\u30eb\u30d5\u30a1\u30b5\u30e9\u30bb\u30df\u30a2\uff08HBA\u6b20\u5931\uff09\u306e\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n<p>\u8840\u6db2\u4e2d\u306e\u9178\u7d20\u3092\u904b\u3076\u30d8\u30e2\u30b0\u30ed\u30d3\u30f3\u304c\u3046\u307e\u304f\u4f5c\u308c\u305a\u3001\u8ca7\u8840\u306b\u306a\u308a\u307e\u3059\u3002\u8efd\u5ea6\u3067\u6c17\u3065\u304b\u306a\u3044\u3053\u3068\u3082\u3042\u308c\u3070\u3001\u6cbb\u7642\u304c\u5fc5\u8981\u306a\u3053\u3068\u3082\u3042\u308a\u3001MCV\u3068\u3044\u3046\u8d64\u8840\u7403\u306e\u5927\u304d\u3055\u306e\u5024\u304c\u5c0f\u3055\u304f\u306a\u308b\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"4_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%85%B1%E9%80%9A%E3%81%97%E3%82%84%E3%81%99%E3%81%84%E7%97%87%E7%8A%B6\"><\/span>4. \u305d\u306e\u4ed6\u306e\u5171\u901a\u3057\u3084\u3059\u3044\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n<p>\u3069\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u3051\u3066\u3044\u3066\u3082\u3001\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u306a\u3044\u3053\u3068\u306b\u3088\u308b\u4e00\u822c\u7684\u306a\u5f71\u97ff\u3068\u3057\u3066\u3001\u6b21\u306e\u3088\u3046\u306a\u69d8\u5b50\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n<ul>\n<li>\u767a\u9054\u9045\u6ede\uff1a\u5168\u822c\u7684\u306a\u767a\u9054\u306e\u3086\u3063\u304f\u308a\u3055\u3002<\/li>\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u30cf\u30a4\u30dd\u30c8\u30cb\u30a2\uff09\uff1a\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u904b\u52d5\u767a\u9054\u304c\u9045\u308c\u3084\u3059\u3044\u72b6\u614b\u3002<\/li>\n<li>\u6442\u98df\u306e\u56f0\u96e3\u3055\uff1a\u30df\u30eb\u30af\u3092\u98f2\u3080\u306e\u304c\u4e0b\u624b\u3001\u96e2\u4e73\u98df\u304c\u9032\u307e\u306a\u3044\u306a\u3069\u3002<\/li>\n<li>\u611f\u67d3\u75c7\u3078\u306e\u304b\u304b\u308a\u3084\u3059\u3055\uff1a\u98a8\u90aa\u3092\u3072\u304d\u3084\u3059\u3044\u3001\u4e2d\u8033\u708e\u3092\u7e70\u308a\u8fd4\u3059\u306a\u3069\u3002<\/li>\n<\/ul>\n\n<h2><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%E3%81%A8%E9%81%BA%E4%BC%9D%E3%81%AE%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0%EF%BC%9A%E8%A6%AA%E3%81%AE%E8%B2%AC%E4%BB%BB%E3%81%A7%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%9B%E3%82%93\"><\/span>\u539f\u56e0\u3068\u907a\u4f1d\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\uff1a\u89aa\u306e\u8cac\u4efb\u3067\u306f\u3042\u308a\u307e\u305b\u3093<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><strong>16p13.3\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u306e\u5927\u591a\u6570\u306f\u5076\u7136\u751f\u3058\u308b\u7a81\u7136\u5909\u7570\u3067\u3042\u308a\u3001\u3054\u4e21\u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u304c\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u3054\u5bb6\u65cf\u304c\u300c\u306a\u305c\u300d\u3068\u60a9\u307f\u3001\u6642\u306b\u3054\u81ea\u8eab\u3092\u8cac\u3081\u3066\u3057\u307e\u3046\u306e\u304c\u539f\u56e0\u306b\u3064\u3044\u3066\u306e\u7591\u554f\u3067\u3059\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"1_%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>1. \u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n<p>16p13.3\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u5927\u591a\u6570\u306f\u3001\u300cde novo\uff08\u30c7\u30fb\u30ce\u30dc\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u7a81\u7136\u5909\u7570\u3067\u8d77\u3053\u308a\u307e\u3059\u3002\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5f8c\u306e\u7d30\u80de\u5206\u88c2\u306e\u975e\u5e38\u306b\u65e9\u3044\u6bb5\u968e\u3067\u3001\u5076\u7136\u67d3\u8272\u4f53\u306e\u672b\u7aef\u304c\u5207\u308c\u3066\u306a\u304f\u306a\u3063\u3066\u3057\u307e\u3063\u305f\u3082\u306e\u3067\u3059\u3002\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u78ba\u7387\u7684\u306a\u73fe\u8c61\u3067\u3042\u308a\u3001\u9632\u3050\u3053\u3068\u306f\u73fe\u4ee3\u306e\u533b\u5b66\u3067\u306f\u56f0\u96e3\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n<p>\u79c1\u81ea\u8eab\u3001\u5916\u6765\u3067\u300c\u598a\u5a20\u4e2d\u306b\u4f55\u304b\u60aa\u3044\u3053\u3068\u3092\u3057\u3066\u3057\u307e\u3063\u305f\u306e\u3067\u306f\u300d\u3068\u81ea\u5206\u3092\u8cac\u3081\u308b\u304a\u6bcd\u69d8\u306b\u6570\u591a\u304f\u304a\u4f1a\u3044\u3057\u3066\u304d\u307e\u3057\u305f\u3002\u3057\u304b\u3057\u5b9f\u969b\u306f\u3001\u7d30\u80de\u5206\u88c2\u306e\u5076\u767a\u7684\u306a\u30a8\u30e9\u30fc\u304c\u539f\u56e0\u3067\u3042\u308a\u3001\u751f\u6d3b\u7fd2\u6163\u3068\u306f\u95a2\u4fc2\u304c\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"2_%E8%A6%AA%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E8%BB%A2%E5%BA%A7%EF%BC%88%E3%81%BE%E3%82%8C%E3%81%AA%E3%82%B1%E3%83%BC%E3%82%B9%EF%BC%89\"><\/span>2. \u89aa\u306e\u67d3\u8272\u4f53\u8ee2\u5ea7\uff08\u307e\u308c\u306a\u30b1\u30fc\u30b9\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n<p>\u4e00\u90e8\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u3068\u3044\u3046\u67d3\u8272\u4f53\u306e\u30bf\u30a4\u30d7\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u5747\u8861\u578b\u8ee2\u5ea7\u306f\u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u3060\u3051\u3067\u907a\u4f1d\u60c5\u5831\u306e\u91cf\u306f\u5909\u308f\u3089\u306a\u3044\u305f\u3081\u3001\u89aa\u5fa1\u3055\u3093\u81ea\u8eab\u306f\u5065\u5eb7\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u304a\u5b50\u69d8\u306b\u67d3\u8272\u4f53\u3092\u53d7\u3051\u6e21\u3059\u969b\u306b\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3066\u300c\u4e0d\u5747\u8861\uff08\u6b20\u5931\uff09\u300d\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6b21\u306e\u304a\u5b50\u69d8\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u306a\u3069\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"3_%E3%83%8F%E3%83%97%E3%83%AD%E4%B8%8D%E5%85%A8%EF%BC%88Haploinsufficiency%EF%BC%89\"><\/span>3. \u30cf\u30d7\u30ed\u4e0d\u5168\uff08Haploinsufficiency\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n<p>\u901a\u5e38\u3001\u907a\u4f1d\u5b50\u306f\u7236\u7531\u6765\u3068\u6bcd\u7531\u6765\u306e2\u3064\u304c\u30bb\u30c3\u30c8\u3067\u50cd\u304d\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u7247\u65b9\u304c\u6b20\u5931\u3057\u3066\u3057\u307e\u3046\u3068\u3001\u6b8b\u308a\u306e1\u3064\u3060\u3051\u3067\u306f\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u8db3\u308a\u305a\u3001\u6b63\u5e38\u306a\u6a5f\u80fd\u3092\u679c\u305f\u305b\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u7279\u306bCREBBP\u3084TSC2\u306f\u3001\u91cf\u304c\u534a\u5206\u306b\u306a\u308b\u3060\u3051\u3067\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u4f53\u306b\u5927\u304d\u306a\u5f71\u97ff\u304c\u51fa\u308b\u907a\u4f1d\u5b50\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n<h2><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB%EF%BC%9A%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%AB%E5%BF%85%E8%A6%81%E3%81%AA%E3%82%B9%E3%83%86%E3%83%83%E3%83%97\"><\/span>\u8a3a\u65ad\u3068\u691c\u67fb\uff1a\u78ba\u5b9a\u8a3a\u65ad\u306b\u5fc5\u8981\u306a\u30b9\u30c6\u30c3\u30d7<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><strong>16p13.3\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u3067\u3069\u306e\u7bc4\u56f2\u304c\u6b20\u3051\u3066\u3044\u308b\u304b\u3092\u7279\u5b9a\u3059\u308b\u3053\u3068\u304c\u6700\u3082\u91cd\u8981\u3067\u3059\u3002<\/strong>\u901a\u5e38\u3001\u751f\u307e\u308c\u305f\u6642\u306e\u8eab\u4f53\u7684\u7279\u5fb4\uff08\u6307\u306e\u5f62\u306a\u3069\uff09\u3084\u814e\u81d3\u306e\u30a8\u30b3\u30fc\u6240\u898b\u3001\u767a\u9054\u306e\u9045\u308c\u304b\u3089\u533b\u5e2b\u304c\u7591\u3044\u3092\u6301\u3061\u3001\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"1_%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>1. \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n<p>\u73fe\u5728\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306e\u78ba\u5b9a\u8a3a\u65ad\u306b\u6700\u3082\u63a8\u5968\u3055\u308c\u308b\u691c\u67fb\u3067\u3059\u3002\u5f93\u6765\u306e\u9855\u5fae\u93e1\u691c\u67fb\uff08G\u5206\u67d3\u6cd5\uff09\u3067\u306f\u3001\u5c0f\u3055\u306a\u6b20\u5931\u306f\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3057\u305f\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u306fDNA\u30ec\u30d9\u30eb\u3067\u8abf\u3079\u308b\u305f\u3081\u3001\u300c16p13.3\u306e\u3069\u306e\u7bc4\u56f2\u304c\u6b20\u3051\u3066\u3044\u308b\u304b\u300d\u300cCREBBP\u3084TSC2\u907a\u4f1d\u5b50\u306f\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u300d\u3068\u3044\u3063\u305f\u6b63\u78ba\u306a\u8a3a\u65ad\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"2_FISH%E6%B3%95\"><\/span>2. FISH\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n<p>\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\uff08CREBBP\u306a\u3069\uff09\u304c\u3042\u308b\u304b\u306a\u3044\u304b\u3092\u30d4\u30f3\u30dd\u30a4\u30f3\u30c8\u3067\u5149\u3089\u305b\u3066\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002\u30eb\u30d3\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30bf\u30a4\u30d3\u75c7\u5019\u7fa4\u304c\u5f37\u304f\u7591\u308f\u308c\u308b\u5834\u5408\u306b\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"3_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\"><\/span>3. \u753b\u50cf\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n<p>\u5408\u4f75\u75c7\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u91cd\u8981\u306a\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n<ul>\n<li>\u814e\u81d3\u30a8\u30b3\u30fc\uff1aPKD\uff08\u56a2\u80de\u814e\uff09\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<li>\u5fc3\u81d3\u30a8\u30b3\u30fc\uff1a\u5fc3\u5947\u5f62\u3084\u6a2a\u7d0b\u7b4b\u816b\u306e\u6709\u7121\u3092\u8abf\u3079\u307e\u3059\u3002<\/li>\n<li>\u982d\u90e8MRI\uff1a\u8133\u306e\u69cb\u9020\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n<p>\u306a\u304a\u3001\u598a\u5a20\u4e2d\u306e\u51fa\u751f\u524d\u691c\u67fb\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30aa\u30d7\u30b7\u30e7\u30f3\u3067\u6b20\u5931\u306e\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u306f\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u306a\u60c5\u5831\u306b\u3068\u3069\u307e\u308a\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u51fa\u751f\u5f8c\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306e\u691c\u51fa\u3068\u3044\u3046\u8996\u70b9\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-202407001\/\">\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u691c\u51fa\u306b\u3064\u3044\u3066<\/a>\u3067\u6574\u7406\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n<h2><span class=\"ez-toc-section\" id=\"%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>\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><strong>\u5931\u308f\u308c\u305f\u67d3\u8272\u4f53\u305d\u306e\u3082\u306e\u3092\u5143\u306b\u623b\u3059\u6839\u672c\u6cbb\u7642\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u7642\u80b2\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/strong><\/p>\n\n<figure class=\"wp-block-image aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/33336776_s-1.webp\" alt=\"16p13.3\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u5b50\u3069\u3082\u306e\u7d4c\u904e\u3092\u898b\u5b88\u308b\u533b\u5e2b\u306e\u30a4\u30e1\u30fc\u30b8\" class=\"wp-image-121537\"\/><\/figure>\n\n<h3><span class=\"ez-toc-section\" id=\"1_%E3%83%AB%E3%83%93%E3%83%B3%E3%82%B7%E3%83%A5%E3%82%BF%E3%82%A4%E3%83%B3%E3%83%BB%E3%82%BF%E3%82%A4%E3%83%93%E5%9E%8B%EF%BC%88CREBBP%E6%AC%A0%E5%A4%B1%EF%BC%89%E3%81%AE%E5%A0%B4%E5%90%88\"><\/span>1. \u30eb\u30d3\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30bf\u30a4\u30d3\u578b\uff08CREBBP\u6b20\u5931\uff09\u306e\u5834\u5408<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n<ul>\n<li>\u767a\u9054\u652f\u63f4\uff1a\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\uff08\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff09\u304c\u5927\u304d\u306a\u652f\u3048\u306b\u306a\u308a\u307e\u3059\u3002\u624b\u8a71\u3092\u6d3b\u7528\u3059\u308b\u306a\u3069\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u3092\u5e83\u3052\u307e\u3059\u3002<\/li>\n<li>\u773c\u79d1\u30fb\u6b6f\u79d1\uff1a\u659c\u8996\u3084\u6b6f\u4e26\u3073\u306e\u554f\u984c\u304c\u51fa\u3084\u3059\u3044\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u30b1\u30a2\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<li>\u4f53\u91cd\u7ba1\u7406\uff1a\u601d\u6625\u671f\u4ee5\u964d\u306b\u80a5\u6e80\u306b\u306a\u308a\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308b\u305f\u3081\u3001\u98df\u4e8b\u7ba1\u7406\u306b\u6c17\u3092\u3064\u3051\u307e\u3059\u3002<\/li>\n<\/ul>\n\n<h3><span class=\"ez-toc-section\" id=\"2_TSC2PKD1%E5%9E%8B%E3%81%AE%E5%A0%B4%E5%90%88\"><\/span>2. TSC2\/PKD1\u578b\u306e\u5834\u5408<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n<p>\u814e\u81d3\u7ba1\u7406\u304c\u6700\u512a\u5148\u3067\u3059\u3002\u8840\u5727\u306e\u7ba1\u7406\uff08\u9ad8\u8840\u5727\u306b\u306a\u308a\u3084\u3059\u3044\uff09\u3001\u814e\u6a5f\u80fd\u306e\u5b9a\u671f\u30c1\u30a7\u30c3\u30af\u3092\u884c\u3044\u307e\u3059\u3002\u79c1\u81ea\u8eab\u3001\u5916\u6765\u3067TSC2\/PKD1\u6b20\u5931\u306e\u304a\u5b50\u3055\u3093\u3092\u6301\u3064\u3054\u5bb6\u65cf\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u643a\u308f\u308b\u4e2d\u3067\u3001\u65e9\u671f\u304b\u3089\u306e\u814e\u6a5f\u80fd\u30d5\u30a9\u30ed\u30fc\u3068\u8840\u5727\u7ba1\u7406\u304c\u3001\u305d\u306e\u5f8c\u306e\u7d4c\u904e\u3092\u5927\u304d\u304f\u5de6\u53f3\u3059\u308b\u5834\u9762\u3092\u4f55\u5ea6\u3082\u898b\u3066\u304d\u307e\u3057\u305f\u3002\u814e\u6a5f\u80fd\u304c\u60aa\u5316\u3057\u305f\u5834\u5408\u306f\u3001\u900f\u6790\u3084\u79fb\u690d\u306a\u3069\u306e\u6cbb\u7642\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3066\u3093\u304b\u3093\u7ba1\u7406\u3068\u3057\u3066\u306f\u3001\u70b9\u982d\u3066\u3093\u304b\u3093\u306a\u3069\u3092\u767a\u75c7\u3059\u308b\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u8133\u6ce2\u691c\u67fb\u3092\u884c\u3044\u3001\u5fc5\u8981\u306a\u3089\u6297\u3066\u3093\u304b\u3093\u85ac\u3092\u4f7f\u7528\u3057\u307e\u3059\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"3_%E5%85%A8%E4%BD%93%E7%9A%84%E3%81%AA%E7%99%82%E8%82%B2%EF%BC%88%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%89\"><\/span>3. \u5168\u4f53\u7684\u306a\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n<ul>\n<li>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\uff1a\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u5bfe\u3057\u3066\u4f53\u5e79\u3092\u935b\u3048\u3001\u904b\u52d5\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n<li>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\uff1a\u624b\u6307\u306e\u7279\u5fb4\uff08\u5e45\u5e83\u306e\u89aa\u6307\u306a\u3069\uff09\u306b\u3088\u308a\u624b\u5148\u3092\u4f7f\u3046\u306e\u304c\u82e6\u624b\u306a\u5834\u5408\u3001\u904a\u3073\u3092\u901a\u3058\u3066\u624b\u306e\u4f7f\u3044\u65b9\u3092\u7df4\u7fd2\u3057\u307e\u3059\u3002<\/li>\n<li>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a\u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3066\u7406\u89e3\u3084\u8868\u51fa\u3092\u4fc3\u3059\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n<div class=\"cta-box\" style=\"text-align:center;margin:2em 0;padding:1.2em;background:#fff5f7;border-radius:12px;\">\n<p style=\"font-weight:bold;margin-bottom:0.8em;\">\u25bc \u6b21\u306e\u304a\u5b50\u69d8\u306e\u598a\u5a20\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3057\u305f\u3044\u65b9\u3078<\/p>\n<p style=\"margin:0.4em 0;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.7em 1.6em;background:#06c755;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/p>\n<\/div>\n\n<h2><span class=\"ez-toc-section\" id=\"%E6%97%A5%E3%80%85%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E5%B7%A5%E5%A4%AB\"><\/span>\u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><strong>\u300c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u300d\u3088\u308a\u3082\u300c\u5f97\u610f\u306a\u3053\u3068\u300d\u3092\u4f38\u3070\u3059\u8996\u70b9\u304c\u3001\u65e5\u3005\u306e\u751f\u6d3b\u3092\u7a4f\u3084\u304b\u306b\u3057\u3066\u304f\u308c\u307e\u3059\u3002<\/strong>16p13.3\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u3068\u306e\u751f\u6d3b\u3067\u3001\u30d2\u30f3\u30c8\u306b\u306a\u308b\u30dd\u30a4\u30f3\u30c8\u3092\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/p>\n\n<ul>\n<li>\u300c\u5f97\u610f\u300d\u3092\u898b\u3064\u3051\u308b\uff1a\u30eb\u30d3\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30bf\u30a4\u30d3\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u306f\u3001\u4eba\u61d0\u3063\u3053\u304f\u793e\u4ea4\u7684\u3067\u3001\u97f3\u697d\u304c\u597d\u304d\u306a\u660e\u308b\u3044\u4e00\u9762\u3092\u6301\u3064\u3053\u3068\u304c\u3088\u304f\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u52c9\u5f37\u306f\u82e6\u624b\u3067\u3082\u3001\u4eba\u3068\u306e\u95a2\u308f\u308a\u3084\u97f3\u697d\u306a\u3069\u3001\u597d\u304d\u306a\u3053\u3068\u3092\u4f38\u3070\u3057\u3066\u3042\u3052\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n<li>\u611f\u67d3\u75c7\u5bfe\u7b56\uff1a\u98a8\u90aa\u3092\u3053\u3058\u3089\u305b\u3084\u3059\u3044\u5834\u5408\u304c\u3042\u308b\u305f\u3081\u3001\u624b\u6d17\u3044\u3084\u30ef\u30af\u30c1\u30f3\u63a5\u7a2e\u306a\u3069\u57fa\u672c\u7684\u306a\u4e88\u9632\u3092\u5fc3\u304c\u3051\u307e\u3057\u3087\u3046\u3002<\/li>\n<li>\u814e\u81d3\u30b1\u30a2\uff08\u8a72\u5f53\u3059\u308b\u5834\u5408\uff09\uff1a\u5869\u5206\u3092\u63a7\u3048\u305f\u98df\u4e8b\u306a\u3069\u3001\u533b\u5e2b\u306e\u6307\u793a\u306b\u5f93\u3063\u305f\u98df\u4e8b\u7642\u6cd5\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5bb6\u65cf\u307f\u3093\u306a\u3067\u8584\u5473\u306b\u6163\u308c\u308b\u3053\u3068\u3067\u3001\u5bb6\u65cf\u5168\u4f53\u306e\u5065\u5eb7\u306b\u3082\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n<h2><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F%EF%BC%88FAQ%EF%BC%89\"><\/span>\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><strong>\u5bff\u547d\u3084\u907a\u4f1d\u306e\u78ba\u7387\u306a\u3069\u3001\u3054\u5bb6\u65cf\u306e\u4e0d\u5b89\u304c\u5927\u304d\u3044\u30c6\u30fc\u30de\u304b\u3089\u9806\u306b\u3001\u7c21\u6f54\u306b\u304a\u7b54\u3048\u3057\u307e\u3059\u3002<\/strong>\u6c17\u306b\u306a\u308b\u9805\u76ee\u304b\u3089\u8aad\u307f\u9032\u3081\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"%E5%AF%BF%E5%91%BD%E3%81%AB%E5%BD%B1%E9%9F%BF%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>\u5bff\u547d\u306b\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u6b20\u5931\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u3084\u5408\u4f75\u75c7\u306e\u7a0b\u5ea6\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u4e00\u6982\u306b\u306f\u8a00\u3048\u307e\u305b\u3093\u3002\u91cd\u7be4\u306a\u814e\u81d3\u75c5\uff08PKD\uff09\u3084\u5fc3\u75be\u60a3\u3092\u4f34\u3046\u5834\u5408\u306f\u614e\u91cd\u306a\u533b\u7642\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u304c\u3001\u30eb\u30d3\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30bf\u30a4\u30d3\u578b\u3067\u306f\u3001\u611f\u67d3\u75c7\u3084\u5fc3\u75be\u60a3\u306b\u6ce8\u610f\u3057\u306a\u304c\u3089\u6210\u4eba\u671f\u307e\u3067\u5143\u6c17\u306b\u904e\u3054\u3059\u65b9\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u500b\u3005\u306e\u898b\u901a\u3057\u306f\u4e3b\u6cbb\u533b\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>\u6b21\u306e\u5b50\u306b\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u89aa\u5fa1\u3055\u3093\u306e\u67d3\u8272\u4f53\u691c\u67fb\u306e\u7d50\u679c\u306b\u3088\u308a\u307e\u3059\u3002\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u304c\u6b63\u5e38\uff08de novo\u5909\u7570\uff09\u3067\u3042\u308c\u3070\u3001\u6b21\u306e\u304a\u5b50\u69d8\u304c\u540c\u3058\u75c5\u6c17\u306b\u306a\u308b\u78ba\u7387\u306f\u4e00\u822c\u7684\u306a\u78ba\u7387\u3068\u5927\u304d\u304f\u5909\u308f\u3089\u306a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3054\u304f\u7a00\u306b\u3001\u89aa\u5fa1\u3055\u3093\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u78ba\u7387\u304c\u5909\u308f\u308b\u305f\u3081\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306e\u78ba\u8a8d\u304c\u52e7\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"%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%E3%81%AF%E3%81%A9%E3%81%93%E3%81%A7%E5%8F%97%E3%81%91%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306f\u3069\u3053\u3067\u53d7\u3051\u3089\u308c\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u304a\u5b50\u69d8\u304c\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u75c5\u9662\u306e\u907a\u4f1d\u5b50\u8a3a\u7642\u90e8\u9580\u3084\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u304c\u5728\u7c4d\u3059\u308b\u533b\u7642\u6a5f\u95a2\u3067\u53d7\u3051\u3089\u308c\u307e\u3059\u3002\u6b21\u306e\u304a\u5b50\u69d8\u306e\u598a\u5a20\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u306e\u76f8\u8ac7\u5148\u304c\u5206\u304b\u3089\u306a\u3044\u5834\u5408\u306f\u3001\u5f53\u9662\u306e\u3088\u3046\u306a\u51fa\u751f\u524d\u691c\u67fb\u3092\u6271\u3046\u30af\u30ea\u30cb\u30c3\u30af\u306e\u7a93\u53e3\u304b\u3089\u3054\u6848\u5185\u3067\u304d\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"%E5%AD%A6%E6%A0%A1%E7%94%9F%E6%B4%BB%E3%82%84%E7%99%82%E8%82%B2%E6%89%8B%E5%B8%B3%E3%81%AE%E5%AF%BE%E8%B1%A1%E3%81%AB%E3%81%AA%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>\u5b66\u6821\u751f\u6d3b\u3084\u7642\u80b2\u624b\u5e33\u306e\u5bfe\u8c61\u306b\u306a\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u767a\u9054\u306e\u72b6\u6cc1\u306b\u3088\u3063\u3066\u5224\u5b9a\u304c\u884c\u308f\u308c\u308b\u305f\u3081\u3001\u75c7\u72b6\u306e\u7a0b\u5ea6\u306b\u3088\u3063\u3066\u5bfe\u8c61\u306b\u306a\u308b\u304b\u3069\u3046\u304b\u306f\u7570\u306a\u308a\u307e\u3059\u3002\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u306e\u798f\u7949\u7a93\u53e3\u3084\u3001\u4e3b\u6cbb\u533b\u304b\u3089\u306e\u610f\u898b\u66f8\u3092\u3082\u3068\u306b\u76f8\u8ac7\u3092\u9032\u3081\u308b\u306e\u304c\u4e00\u822c\u7684\u306a\u6d41\u308c\u3067\u3059\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"%E3%81%8D%E3%82%87%E3%81%86%E3%81%A0%E3%81%84%E5%85%90%E3%81%AB%E3%81%AF%E3%81%A9%E3%81%86%E4%BC%9D%E3%81%88%E3%82%8C%E3%81%B0%E3%82%88%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>\u304d\u3087\u3046\u3060\u3044\u5150\u306b\u306f\u3069\u3046\u4f1d\u3048\u308c\u3070\u3088\u3044\u3067\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u5e74\u9f62\u306b\u5fdc\u3058\u3066\u3001\u3067\u304d\u308b\u3053\u3068\u3068\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u306a\u3053\u3068\u3092\u5206\u3051\u3066\u4f1d\u3048\u308b\u65b9\u6cd5\u304c\u52e7\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u96e3\u3057\u3044\u5834\u5408\u306f\u3001\u7642\u80b2\u65bd\u8a2d\u3084\u60a3\u8005\u4f1a\u306e\u5bb6\u65cf\u5411\u3051\u30d7\u30ed\u30b0\u30e9\u30e0\u3067\u3001\u4f1d\u3048\u65b9\u306e\u76f8\u8ac7\u304c\u3067\u304d\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"%E3%82%BB%E3%82%AB%E3%83%B3%E3%83%89%E3%82%AA%E3%83%94%E3%83%8B%E3%82%AA%E3%83%B3%E3%81%AF%E5%8F%97%E3%81%91%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>\u30bb\u30ab\u30f3\u30c9\u30aa\u30d4\u30cb\u30aa\u30f3\u306f\u53d7\u3051\u3089\u308c\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u304c\u5728\u7c4d\u3059\u308b\u5927\u5b66\u75c5\u9662\u3084\u5c02\u9580\u5916\u6765\u3067\u53d7\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u8a3a\u65ad\u540d\u3084\u6b20\u5931\u7bc4\u56f2\u306e\u8cc7\u6599\u3092\u6301\u53c2\u3059\u308b\u3068\u3001\u30b9\u30e0\u30fc\u30ba\u306b\u76f8\u8ac7\u304c\u9032\u307f\u307e\u3059\u3002<\/p>\n\n<h2><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81\"><\/span>\u307e\u3068\u3081<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><strong>16p13.3\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u6b20\u3051\u3066\u3044\u308b\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u75c7\u72b6\u3082\u5bfe\u5fdc\u3082\u5909\u308f\u308b\u75be\u60a3\u3067\u3042\u308a\u3001\u307e\u305a\u300c\u3069\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u308b\u304b\u300d\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u7406\u89e3\u306e\u51fa\u767a\u70b9\u306b\u306a\u308a\u307e\u3059\u3002<\/strong>\u3053\u3053\u307e\u3067\u306e\u91cd\u8981\u30dd\u30a4\u30f3\u30c8\u3092\u632f\u308a\u8fd4\u308a\u307e\u3059\u3002<\/p>\n\n<ol>\n<li><strong>16p13.3\u6b20\u5931\u75c7\u5019\u7fa4<\/strong>\u306f16\u756a\u67d3\u8272\u4f53\u672b\u7aef\u306e\u6b20\u5931\u306b\u3088\u308b\u75be\u60a3\u3067\u3059\u304c\u3001\u3069\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u3051\u3066\u3044\u308b\u304b\u3067\u75c7\u72b6\u304c\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/li>\n<li>CREBBP\u6b20\u5931\u306a\u3089\u30eb\u30d3\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30bf\u30a4\u30d3\u75c7\u5019\u7fa4\uff08\u7279\u5fb4\u7684\u306a\u6307\u3001\u9854\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff09\u3002<\/li>\n<li>TSC2\/PKD1\u6b20\u5931\u306a\u3089\u91cd\u75c7\u306e\u814e\u81d3\u75c5\u30fb\u7d50\u7bc0\u6027\u786c\u5316\u75c7\u3092\u4f34\u3046TSC2\/PKD1\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3002<\/li>\n<li>\u539f\u56e0\u306e\u591a\u304f\u306f\u7a81\u7136\u5909\u7570\u3067\u3042\u308a\u3001\u89aa\u306e\u8cac\u4efb\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<li>\u8a3a\u65ad\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u3067\u6b20\u5931\u7bc4\u56f2\u3092\u7279\u5b9a\u3059\u308b\u3053\u3068\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/li>\n<li>\u6cbb\u7642\u306f\u3001\u814e\u81d3\u30fb\u3066\u3093\u304b\u3093\u30fb\u767a\u9054\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u7ba1\u7406\u3068\u7642\u80b2\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ol>\n\n<h2><span class=\"ez-toc-section\" id=\"%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%EF%BC%9A%E8%A4%87%E9%9B%91%E3%81%AA%E8%A8%BA%E6%96%AD%E5%90%8D%E3%81%AB%E6%83%91%E3%82%8F%E3%81%95%E3%82%8C%E3%81%AA%E3%81%84%E3%81%A7\"><\/span>\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8\uff1a\u8907\u96d1\u306a\u8a3a\u65ad\u540d\u306b\u60d1\u308f\u3055\u308c\u306a\u3044\u3067<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><strong>\u8907\u96d1\u306a\u75c5\u540d\u3084\u5408\u4f75\u75c7\u306e\u60c5\u5831\u306b\u89e6\u308c\u308b\u307b\u3069\u4e0d\u5b89\u304c\u5897\u3057\u3066\u3082\u3001\u5927\u5207\u306a\u306e\u306f\u76ee\u306e\u524d\u306e\u304a\u5b50\u69d8\u305d\u306e\u3082\u306e\u3068\u5411\u304d\u5408\u3046\u8996\u70b9\u3067\u3059\u3002<\/strong>\u8a3a\u65ad\u540d\u3092\u805e\u3044\u305f\u76f4\u5f8c\u3001\u3054\u5bb6\u65cf\u306f\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u300d\u300c\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u8a00\u8449\u306e\u91cd\u307f\u306b\u62bc\u3057\u3064\u3076\u3055\u308c\u305d\u3046\u306b\u306a\u3063\u3066\u3044\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u7279\u306b\u3053\u306e16p13.3\u6b20\u5931\u306f\u8aac\u660e\u304c\u8907\u96d1\u3067\u3001\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u4e0a\u306e\u60c5\u5831\u3082\u6df7\u5728\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u4f59\u8a08\u306b\u4e0d\u5b89\u306b\u306a\u308b\u3053\u3068\u3067\u3057\u3087\u3046\u3002<\/p>\n\n<p>\u3057\u304b\u3057\u3001\u4e00\u756a\u5927\u5207\u306a\u306e\u306f\u3001\u533b\u5b66\u66f8\u306b\u66f8\u304b\u308c\u3066\u3044\u308b\u300c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u300d\u3067\u306f\u306a\u304f\u3001\u76ee\u306e\u524d\u306b\u3044\u308b\u300c\u304a\u5b50\u69d8\u305d\u306e\u3082\u306e\u300d\u3067\u3059\u3002\u304a\u3066\u3066\u304c\u5c11\u3057\u5e45\u5e83\u304f\u3066\u53ef\u611b\u3044\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u97f3\u697d\u304c\u805e\u3053\u3048\u308b\u3068\u30cb\u30b3\u30cb\u30b3\u3059\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u75c5\u540d\u306f\u3042\u304f\u307e\u3067\u3001\u305d\u306e\u5b50\u306e\u4f53\u8cea\u3092\u7406\u89e3\u3057\u3001\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\uff08\u814e\u81d3\u3092\u5b88\u308b\u3001\u767a\u9054\u3092\u4fc3\u3059\u306a\u3069\uff09\u3092\u3059\u308b\u305f\u3081\u306e\u9053\u3057\u308b\u3079\u306b\u904e\u304e\u307e\u305b\u3093\u3002<\/p>\n\n<p>\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u307e\u306a\u3044\u3067\u304f\u3060\u3055\u3044\u3002\u30eb\u30d3\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30bf\u30a4\u30d3\u75c7\u5019\u7fa4\u306e\u89aa\u306e\u4f1a\u3084\u3001\u7d50\u7bc0\u6027\u786c\u5316\u75c7\u306e\u60a3\u8005\u4f1a\u306a\u3069\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u304c\u5b58\u5728\u3057\u307e\u3059\u3002\u533b\u5e2b\u3001\u770b\u8b77\u5e2b\u3001\u7642\u6cd5\u58eb\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u2014\u2014\u3042\u306a\u305f\u306e\u5468\u308a\u306b\u306f\u3001\u304a\u5b50\u69d8\u3092\u652f\u3048\u308b\u300c\u30c1\u30fc\u30e0\u300d\u3092\u4f5c\u308b\u305f\u3081\u306e\u5c02\u9580\u5bb6\u304c\u3044\u307e\u3059\u3002\u5206\u304b\u3089\u306a\u3044\u3053\u3068\u306f\u4f55\u5ea6\u3067\u3082\u805e\u304d\u3001\u8f9b\u3044\u6642\u306f\u5410\u304d\u51fa\u3057\u3001\u5468\u308a\u3092\u983c\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n<p>\u7126\u3089\u305a\u3001\u4e00\u65e5\u4e00\u65e5\u3092\u5927\u5207\u306b\u3002\u304a\u5b50\u69d8\u306e\u5c0f\u3055\u306a\u300c\u3067\u304d\u305f\u300d\u3092\u4e00\u7dd2\u306b\u559c\u3073\u5408\u3048\u308b\u65e5\u3005\u304c\u3001\u3053\u308c\u304b\u3089\u306e\u672a\u6765\u306b\u305f\u304f\u3055\u3093\u5f85\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"%E6%AC%A1%E3%81%AE%E3%82%A2%E3%82%AF%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%9A%E3%81%BE%E3%81%9A%E7%A2%BA%E8%AA%8D%E3%81%97%E3%81%9F%E3%81%84%E3%81%93%E3%81%A8\"><\/span>\u6b21\u306e\u30a2\u30af\u30b7\u30e7\u30f3\uff1a\u307e\u305a\u78ba\u8a8d\u3057\u305f\u3044\u3053\u3068<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n<p>\u3053\u306e\u8a18\u4e8b\u3092\u8aad\u3093\u3060\u5f8c\u3001\u4e3b\u6cbb\u533b\u306b\u78ba\u8a8d\u3059\u308b\u3068\u826f\u3044\u5177\u4f53\u7684\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002\u307e\u305a\u306f\u6b20\u5931\u7bc4\u56f2\u306e\u78ba\u8a8d\u304b\u3089\u3002<\/p>\n\n<ol>\n<li><strong>\u300c\u6b20\u5931\u7bc4\u56f2\u300d\u306e\u78ba\u8a8d\uff08\u6700\u91cd\u8981\uff09<\/strong>\uff1a\u300cCREBBP\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304b\uff1f TSC2\/PKD1\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304b\uff1f\u300d\u3068\u5fc5\u305a\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u6c17\u3092\u3064\u3051\u308b\u3079\u304d\u3053\u3068\uff08\u814e\u81d3\u304b\u3001\u767a\u9054\u304b\uff09\u304c\u660e\u78ba\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<li>\u5408\u4f75\u75c7\u306e\u30c1\u30a7\u30c3\u30af\uff1a\u300c\u814e\u81d3\u306e\u30a8\u30b3\u30fc\u691c\u67fb\u3001\u5fc3\u81d3\u306e\u30a8\u30b3\u30fc\u691c\u67fb\u3001\u773c\u79d1\u691c\u8a3a\u306f\u6e08\u3093\u3067\u3044\u307e\u3059\u304b\uff1f\u300d\u3068\u78ba\u8a8d\u3057\u307e\u3057\u3087\u3046\u3002<\/li>\n<li>\u7642\u80b2\u306e\u958b\u59cb\uff1a\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u306e\u798f\u7949\u7a93\u53e3\u3067\u3001\u65e9\u671f\u7642\u80b2\uff08\u5150\u7ae5\u767a\u9054\u652f\u63f4\uff09\u3092\u53d7\u3051\u308b\u305f\u3081\u306e\u624b\u7d9a\u304d\u306b\u3064\u3044\u3066\u805e\u3044\u3066\u307f\u307e\u3057\u3087\u3046\u3002<\/li>\n<\/ol>\n\n<div 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