{"id":122419,"date":"2026-01-13T15:42:02","date_gmt":"2026-01-13T06:42:02","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122419"},"modified":"2026-09-11T05:28:59","modified_gmt":"2026-09-10T20:28:59","slug":"sbbyss-syndrome-kat6b-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/sbbyss-syndrome-kat6b-guide\/","title":{"rendered":"SBBYSS\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<p><strong>\u304a\u5b50\u3055\u3093\u304c\u300cSBBYSS\u75c7\u5019\u7fa4\u300d\u3001\u3042\u308b\u3044\u306f\u300cSay-Barber-Biesecker-Young-Simpson\u75c7\u5019\u7fa4\u300d\u3068\u8a3a\u65ad\u3055\u308c\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u75c5\u540d\u306b\u6238\u60d1\u3063\u3066\u3044\u308b\u3054\u5bb6\u65cf\u306e\u65b9\u3078\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u7d50\u8ad6\u304b\u3089\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002SBBYSS\u75c7\u5019\u7fa4\u306f\u300110\u756a\u67d3\u8272\u4f53\u306eKAT6B\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3001Ohdo\u75c7\u5019\u7fa4\u306e\u4e00\u4e9c\u578b\u3067\u3059\u3002<\/strong>\u8868\u60c5\u306e\u52d5\u304d\u304c\u5c11\u306a\u3044\u4eee\u9762\u69d8\u9854\u8c8c\u3001\u773c\u77bc\u4e0b\u5782\u3001\u9577\u3044\u89aa\u6307\u3068\u8db3\u306e\u89aa\u6307\u304c\u3001\u8a3a\u65ad\u306e\u5927\u304d\u306a\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u6307\u5b9a\u96e3\u75c5\u3067\u3042\u308a\u3001\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3057\u3066\u3082\u5c02\u9580\u7684\u306a\u82f1\u8a9e\u8ad6\u6587\u3084\u96e3\u3057\u3044\u533b\u5b66\u7528\u8a9e\u3070\u304b\u308a\u304c\u76ee\u306b\u3064\u304d\u307e\u3059\u3002\u5177\u4f53\u7684\u306a\u751f\u6d3b\u306e\u30a4\u30e1\u30fc\u30b8\u304c\u3064\u304b\u307f\u306b\u304f\u3044\u306e\u304c\u5b9f\u60c5\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001GeneReviews\u3001\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\uff08NIH\uff09\u306eGARD\u3001MedlinePlus Genetics\u306a\u3069\u306e\u516c\u7684\u30fb\u5b66\u8853\u60c5\u5831\u306b\u3082\u3068\u3065\u304d\u6574\u7406\u3057\u307e\u3057\u305f\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u4ed5\u7d44\u307f\u304b\u3089\u75c7\u72b6\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u3001\u305d\u3057\u3066NIPT\u3068\u306e\u95a2\u4fc2\u307e\u3067\u3092\u6271\u3044\u307e\u3059\u3002\u60c5\u5831\u306e\u5c11\u306a\u3044\u5e0c\u5c11\u75be\u60a3\u3060\u304b\u3089\u3053\u305d\u3001\u4e00\u6b21\u60c5\u5831\u3092\u78ba\u8a8d\u3059\u308b\u59ff\u52e2\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\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>KAT6B\u907a\u4f1d\u5b50\u306e\u305f\u3063\u305f\u4e00\u3064\u306e\u5909\u5316\u304c\u5168\u8eab\u306b\u5f71\u97ff\u3059\u308b\u4ed5\u7d44\u307f<\/li>\n<li>\u4eee\u9762\u69d8\u9854\u8c8c\u30fb\u773c\u77bc\u4e0b\u5782\u306a\u3069\u3001\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u3068\u306a\u308b\u9854\u7acb\u3061<\/li>\n<li>\u767a\u9054\u30fb\u9aa8\u683c\u30fb\u7532\u72b6\u817a\u306b\u73fe\u308c\u308b\u4ee3\u8868\u7684\u306a\u75c7\u72b6<\/li>\n<li>\u4f3c\u305f\u75c5\u6c17\u300cGenitopatellar\u75c7\u5019\u7fa4\u300d\u3068\u306e\u9055\u3044\u3068\u898b\u5206\u3051\u65b9<\/li>\n<li>\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u308b\u8a3a\u65ad\u306e\u6d41\u308c<\/li>\n<li>NIPT\u3067\u3053\u306e\u75c5\u6c17\u304c\u5206\u304b\u308b\u30b1\u30fc\u30b9\u3068\u5206\u304b\u3089\u306a\u3044\u30b1\u30fc\u30b9<\/li>\n<\/ul>\n<\/div>\n\n\n\n<p>\u307e\u305a\u3001\u3053\u306e\u75c5\u6c17\u306e\u8981\u70b9\u30921\u679a\u306e\u8868\u306b\u307e\u3068\u3081\u307e\u3057\u305f\u3002\u5168\u4f53\u50cf\u3092\u3064\u304b\u3093\u3067\u304b\u3089\u3001\u8a73\u3057\u3044\u8aac\u660e\u306b\u9032\u3093\u3067\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u9805\u76ee<\/th><th>\u5185\u5bb9<\/th><\/tr><\/thead><tbody><tr><td>\u6b63\u5f0f\u540d\u79f0<\/td><td>Say-Barber-Biesecker-Young-Simpson\u75c7\u5019\u7fa4\uff08SBBYSS\uff09\u3001\u901a\u79f0Ohdo\u75c7\u5019\u7fa4SBBYS\u578b<\/td><\/tr><tr><td>\u539f\u56e0\u907a\u4f1d\u5b50<\/td><td>10\u756a\u67d3\u8272\u4f53\u306eKAT6B\u907a\u4f1d\u5b50<\/td><\/tr><tr><td>\u907a\u4f1d\u5f62\u5f0f<\/td><td>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d\u3002\u305f\u3060\u3057\u307b\u3068\u3093\u3069\u304c\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09<\/td><\/tr><tr><td>\u4e3b\u306a\u75c7\u72b6<\/td><td>\u4eee\u9762\u69d8\u9854\u8c8c\u3001\u773c\u77bc\u4e0b\u5782\u30fb\u773c\u77bc\u88c2\u72ed\u5c0f\u3001\u9577\u3044\u89aa\u6307\u3068\u8db3\u306e\u89aa\u6307\u3001\u767a\u9054\u306e\u9045\u308c\u3001\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7<\/td><\/tr><tr><td>\u985e\u7e01\u75be\u60a3<\/td><td>\u540c\u3058KAT6B\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u306eGenitopatellar\u75c7\u5019\u7fa4\u3068\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3092\u5f62\u6210<\/td><\/tr><tr><td>\u78ba\u5b9a\u8a3a\u65ad<\/td><td>KAT6B\u907a\u4f1d\u5b50\u306e\u30b7\u30fc\u30af\u30a8\u30f3\u30b9\u89e3\u6790\uff08\u691c\u51fa\u738798%\u8d85\uff09\u3001\u307e\u305f\u306f\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09<\/td><\/tr><tr><td>NIPT\u3068\u306e\u95a2\u4fc2<\/td><td>\u57fa\u672cNIPT\u306e\u5bfe\u8c61\u5916\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306e\u305f\u3081\u901a\u5e38\u306ecfDNA\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u306f\u691c\u51fa\u3067\u304d\u306a\u3044<\/td><\/tr><tr><td>\u6cbb\u7642<\/td><td>\u6839\u672c\u6cbb\u7642\u306f\u672a\u78ba\u7acb\u3002\u773c\u79d1\u624b\u8853\u30fb\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u30fb\u65e9\u671f\u7642\u80b2\u306a\u3069\u306e\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_86 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 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/sbbyss-syndrome-kat6b-guide\/#1_SBBYSS%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88Ohdo%E7%97%87%E5%80%99%E7%BE%A4SBBYS%E5%9E%8B%EF%BC%89%E3%81%A8%E3%81%AF%E3%81%A9%E3%82%93%E3%81%AA%E7%97%85%E6%B0%97%EF%BC%9F\" >1. SBBYSS\u75c7\u5019\u7fa4\uff08Ohdo\u75c7\u5019\u7fa4SBBYS\u578b\uff09\u3068\u306f\u3069\u3093\u306a\u75c5\u6c17\uff1f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/sbbyss-syndrome-kat6b-guide\/#%E7%97%85%E5%90%8D%E3%81%AE%E7%94%B1%E6%9D%A5%E3%81%AF%EF%BC%9F\" >\u75c5\u540d\u306e\u7531\u6765\u306f\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/sbbyss-syndrome-kat6b-guide\/#KAT6B%E9%96%A2%E9%80%A3%E7%96%BE%E6%82%A3%E3%81%A8%E3%81%AF%E3%81%A9%E3%82%93%E3%81%AA%E6%9E%A0%E7%B5%84%E3%81%BF%EF%BC%9F\" >KAT6B\u95a2\u9023\u75be\u60a3\u3068\u306f\u3069\u3093\u306a\u67a0\u7d44\u307f\uff1f<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/sbbyss-syndrome-kat6b-guide\/#2_%E3%81%A9%E3%82%93%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%8C%E3%81%82%E3%82%89%E3%82%8F%E3%82%8C%E3%82%8B%EF%BC%9F\" >2. \u3069\u3093\u306a\u75c7\u72b6\u304c\u3042\u3089\u308f\u308c\u308b\uff1f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/sbbyss-syndrome-kat6b-guide\/#%E3%81%A9%E3%82%93%E3%81%AA%E9%A1%94%E7%AB%8B%E3%81%A1%E3%81%AE%E7%89%B9%E5%BE%B4%E3%81%8C%E3%81%82%E3%82%8B%EF%BC%9F\" >\u3069\u3093\u306a\u9854\u7acb\u3061\u306e\u7279\u5fb4\u304c\u3042\u308b\uff1f<\/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\/sbbyss-syndrome-kat6b-guide\/#%E7%99%BA%E9%81%94%E3%82%84%E7%A5%9E%E7%B5%8C%E3%81%AE%E9%9D%A2%E3%81%A7%E3%81%AF%E3%81%A9%E3%82%93%E3%81%AA%E7%89%B9%E5%BE%B4%E3%81%8C%E3%81%82%E3%82%8B%EF%BC%9F\" >\u767a\u9054\u3084\u795e\u7d4c\u306e\u9762\u3067\u306f\u3069\u3093\u306a\u7279\u5fb4\u304c\u3042\u308b\uff1f<\/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\/sbbyss-syndrome-kat6b-guide\/#%E9%AA%A8%E6%A0%BC%E3%82%84%E6%89%8B%E8%B6%B3%E3%81%AB%E3%81%AF%E3%81%A9%E3%82%93%E3%81%AA%E7%89%B9%E5%BE%B4%E3%81%8C%E3%81%82%E3%82%8B%EF%BC%9F\" >\u9aa8\u683c\u3084\u624b\u8db3\u306b\u306f\u3069\u3093\u306a\u7279\u5fb4\u304c\u3042\u308b\uff1f<\/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\/sbbyss-syndrome-kat6b-guide\/#%E7%94%B2%E7%8A%B6%E8%85%BA%E3%82%84%E5%85%A8%E8%BA%AB%E3%81%AB%E3%81%AF%E3%81%A9%E3%82%93%E3%81%AA%E5%90%88%E4%BD%B5%E7%97%87%E3%81%8C%E3%81%82%E3%82%8B%EF%BC%9F\" >\u7532\u72b6\u817a\u3084\u5168\u8eab\u306b\u306f\u3069\u3093\u306a\u5408\u4f75\u75c7\u304c\u3042\u308b\uff1f<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/sbbyss-syndrome-kat6b-guide\/#3_%E5%8E%9F%E5%9B%A0%E3%81%A8%E3%81%AA%E3%82%8BKAT6B%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%A4%89%E5%8C%96%E3%81%A8%E3%81%AF%EF%BC%9F\" >3. \u539f\u56e0\u3068\u306a\u308bKAT6B\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3068\u306f\uff1f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/sbbyss-syndrome-kat6b-guide\/#KAT6B%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AF%E3%81%A9%E3%82%93%E3%81%AA%E5%83%8D%E3%81%8D%E3%82%92%E3%81%97%E3%81%A6%E3%81%84%E3%82%8B%EF%BC%9F\" >KAT6B\u907a\u4f1d\u5b50\u306f\u3069\u3093\u306a\u50cd\u304d\u3092\u3057\u3066\u3044\u308b\uff1f<\/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\/sbbyss-syndrome-kat6b-guide\/#%E5%A4%89%E7%95%B0%E3%81%AE%E8%B5%B7%E3%81%8D%E3%82%8B%E5%A0%B4%E6%89%80%E3%81%A7%E7%97%87%E7%8A%B6%E3%81%AF%E3%81%A9%E3%81%86%E5%A4%89%E3%82%8F%E3%82%8B%EF%BC%9F\" >\u5909\u7570\u306e\u8d77\u304d\u308b\u5834\u6240\u3067\u75c7\u72b6\u306f\u3069\u3046\u5909\u308f\u308b\uff1f<\/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\/sbbyss-syndrome-kat6b-guide\/#%E9%81%BA%E4%BC%9D%E3%81%99%E3%82%8B%E7%97%85%E6%B0%97%E3%81%AA%E3%81%AE%EF%BC%9F\" >\u907a\u4f1d\u3059\u308b\u75c5\u6c17\u306a\u306e\uff1f<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/sbbyss-syndrome-kat6b-guide\/#4_%E3%81%A9%E3%81%86%E3%82%84%E3%81%A3%E3%81%A6%E8%A8%BA%E6%96%AD%E3%81%99%E3%82%8B%EF%BC%9F\" >4. \u3069\u3046\u3084\u3063\u3066\u8a3a\u65ad\u3059\u308b\uff1f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/sbbyss-syndrome-kat6b-guide\/#%E8%A8%BA%E5%AF%9F%E3%81%A7%E3%81%AF%E4%BD%95%E3%82%92%E8%A6%8B%E3%81%A6%E3%81%84%E3%82%8B%EF%BC%9F\" >\u8a3a\u5bdf\u3067\u306f\u4f55\u3092\u898b\u3066\u3044\u308b\uff1f<\/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\/sbbyss-syndrome-kat6b-guide\/#%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%AB%E3%81%AF%E3%81%A9%E3%82%93%E3%81%AA%E6%A4%9C%E6%9F%BB%E3%81%8C%E5%BF%85%E8%A6%81%EF%BC%9F\" >\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3069\u3093\u306a\u691c\u67fb\u304c\u5fc5\u8981\uff1f<\/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\/sbbyss-syndrome-kat6b-guide\/#%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AF%E3%81%A9%E3%81%86%E3%82%84%E3%81%A3%E3%81%A6%E8%AA%BF%E3%81%B9%E3%82%8B%EF%BC%9F\" >\u5408\u4f75\u75c7\u306f\u3069\u3046\u3084\u3063\u3066\u8abf\u3079\u308b\uff1f<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/sbbyss-syndrome-kat6b-guide\/#5_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%E3%81%AF%E3%81%A9%E3%81%86%E9%80%B2%E3%82%81%E3%82%8B%EF%BC%9F\" >5. \u6cbb\u7642\u3068\u7ba1\u7406\u306f\u3069\u3046\u9032\u3081\u308b\uff1f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/sbbyss-syndrome-kat6b-guide\/#%E7%9B%AE%E3%81%AE%E6%B2%BB%E7%99%82%E3%81%AF%E3%81%A9%E3%81%86%E3%81%99%E3%82%8B%EF%BC%9F\" >\u76ee\u306e\u6cbb\u7642\u306f\u3069\u3046\u3059\u308b\uff1f<\/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\/sbbyss-syndrome-kat6b-guide\/#%E7%94%B2%E7%8A%B6%E8%85%BA%E3%81%AE%E6%A9%9F%E8%83%BD%E3%81%AF%E3%81%A9%E3%81%86%E7%AE%A1%E7%90%86%E3%81%99%E3%82%8B%EF%BC%9F\" >\u7532\u72b6\u817a\u306e\u6a5f\u80fd\u306f\u3069\u3046\u7ba1\u7406\u3059\u308b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/sbbyss-syndrome-kat6b-guide\/#%E6%97%A9%E6%9C%9F%E7%99%82%E8%82%B2%E3%81%AF%E3%81%AA%E3%81%9C%E5%BF%85%E8%A6%81%EF%BC%9F\" >\u65e9\u671f\u7642\u80b2\u306f\u306a\u305c\u5fc5\u8981\uff1f<\/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\/sbbyss-syndrome-kat6b-guide\/#%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E3%82%84%E6%AD%AF%E7%A7%91%E3%81%AE%E3%82%B1%E3%82%A2%E3%81%AF%E3%81%A9%E3%81%86%E3%81%99%E3%82%8B%EF%BC%9F\" >\u6574\u5f62\u5916\u79d1\u3084\u6b6f\u79d1\u306e\u30b1\u30a2\u306f\u3069\u3046\u3059\u308b\uff1f<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/sbbyss-syndrome-kat6b-guide\/#6_%E4%BA%88%E5%BE%8C%E3%81%A8%E7%94%9F%E6%B4%BB%E3%81%AF%E3%81%A9%E3%81%86%E3%81%AA%E3%82%8B%EF%BC%9F\" >6. \u4e88\u5f8c\u3068\u751f\u6d3b\u306f\u3069\u3046\u306a\u308b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/sbbyss-syndrome-kat6b-guide\/#7_NIPT%EF%BC%88%E6%96%B0%E5%9E%8B%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%EF%BC%89%E3%81%A7SBBYSS%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8B%EF%BC%9F\" >7. NIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\u3067SBBYSS\u75c7\u5019\u7fa4\u306f\u308f\u304b\u308b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/sbbyss-syndrome-kat6b-guide\/#8_%E6%94%AF%E6%8F%B4%E5%88%B6%E5%BA%A6%E3%81%A8%E7%9B%B8%E8%AB%87%E7%AA%93%E5%8F%A3%E3%81%AF%EF%BC%9F%E3%80%80%E3%81%BE%E3%81%9A%E4%BD%95%E3%81%8B%E3%82%89%E5%A7%8B%E3%82%81%E3%82%8B%EF%BC%9F\" >8. \u652f\u63f4\u5236\u5ea6\u3068\u76f8\u8ac7\u7a93\u53e3\u306f\uff1f\u3000\u307e\u305a\u4f55\u304b\u3089\u59cb\u3081\u308b\uff1f<\/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\/sbbyss-syndrome-kat6b-guide\/#9_%E3%81%BE%E3%81%A8%E3%82%81%EF%BC%9A%E8%A8%BA%E6%96%AD%E5%90%8D%E3%81%A8%E5%90%91%E3%81%8D%E5%90%88%E3%81%86%E3%81%9F%E3%82%81%E3%81%AB\" >9. \u307e\u3068\u3081\uff1a\u8a3a\u65ad\u540d\u3068\u5411\u304d\u5408\u3046\u305f\u3081\u306b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/sbbyss-syndrome-kat6b-guide\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\" >\u3088\u304f\u3042\u308b\u8cea\u554f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/sbbyss-syndrome-kat6b-guide\/#SBBYSS%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >SBBYSS\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<\/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\/sbbyss-syndrome-kat6b-guide\/#Genitopatellar%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%86%E9%81%95%E3%81%86%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >Genitopatellar\u75c7\u5019\u7fa4\u3068\u306f\u3069\u3046\u9055\u3046\u306e\u3067\u3059\u304b\u3002<\/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\/sbbyss-syndrome-kat6b-guide\/#SBBYSS%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AFNIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >SBBYSS\u75c7\u5019\u7fa4\u306fNIPT\u3067\u308f\u304b\u308a\u307e\u3059\u304b\u3002<\/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\/sbbyss-syndrome-kat6b-guide\/#%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E3%82%82%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u6b21\u306e\u5b50\u306b\u3082\u907a\u4f1d\u3057\u307e\u3059\u304b\u3002<\/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\/sbbyss-syndrome-kat6b-guide\/#%E6%AD%A9%E3%81%91%E3%82%8B%E3%82%88%E3%81%86%E3%81%AB%E3%81%AA%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u6b69\u3051\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-32\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/sbbyss-syndrome-kat6b-guide\/#%E8%A8%BA%E6%96%AD%E3%82%92%E5%8F%97%E3%81%91%E3%81%9F%E3%81%82%E3%81%A8%E3%80%81%E3%81%BE%E3%81%9A%E4%BD%95%E3%82%92%E3%81%99%E3%82%8C%E3%81%B0%E3%82%88%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3042\u3068\u3001\u307e\u305a\u4f55\u3092\u3059\u308c\u3070\u3088\u3044\u3067\u3059\u304b\u3002<\/a><\/li><\/ul><\/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\/sbbyss-syndrome-kat6b-guide\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u5f15\u7528\u6587\u732e\uff5cReferences<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-34\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/sbbyss-syndrome-kat6b-guide\/#%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\" >\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_SBBYSS%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88Ohdo%E7%97%87%E5%80%99%E7%BE%A4SBBYS%E5%9E%8B%EF%BC%89%E3%81%A8%E3%81%AF%E3%81%A9%E3%82%93%E3%81%AA%E7%97%85%E6%B0%97%EF%BC%9F\"><\/span><strong>1. SBBYSS\u75c7\u5019\u7fa4\uff08Ohdo\u75c7\u5019\u7fa4SBBYS\u578b\uff09\u3068\u306f\u3069\u3093\u306a\u75c5\u6c17\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3053\u306e\u75c5\u6c17\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u306eKAT6B\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u3001\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3084\u767a\u9054\u306e\u9045\u308c\u3001\u9aa8\u683c\u306e\u7279\u5fb4\u304c\u73fe\u308c\u308b\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u3002<\/strong>\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308a\u306a\u304c\u3089\u3001\u60a3\u8005\u3055\u3093\u540c\u58eb\u306e\u75c7\u72b6\u3084\u9854\u7acb\u3061\u306b\u5171\u901a\u70b9\u304c\u591a\u3044\u3053\u3068\u3067\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%90%8D%E3%81%AE%E7%94%B1%E6%9D%A5%E3%81%AF%EF%BC%9F\"><\/span>\u75c5\u540d\u306e\u7531\u6765\u306f\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9577\u3044\u75c5\u540d\u306e\u7531\u6765\u3092\u77e5\u308b\u3068\u3001\u3053\u306e\u75c5\u6c17\u306e\u6210\u308a\u7acb\u3061\u304c\u898b\u3048\u3066\u304d\u307e\u3059\u30021990\u5e74\u4ee3\u307e\u3067\u306b\u3001Say\u3001Barber\u3001Biesecker\u3001Young\u3001Simpson\u3068\u3044\u3046\u8907\u6570\u306e\u7814\u7a76\u8005\u304c\u3001\u305d\u308c\u305e\u308c\u4f3c\u305f\u7279\u5fb4\u3092\u6301\u3064\u75c7\u4f8b\u3092\u5831\u544a\u3057\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u306e\u3061\u306b\u3001\u3053\u308c\u3089\u304c\u540c\u4e00\u75be\u60a3\u306e\u7570\u306a\u308b\u5831\u544a\u4f8b\u3067\u3042\u308b\u3053\u3068\u304c\u5224\u660e\u3057\u30015\u4eba\u306e\u540d\u524d\u3092\u4e26\u3079\u305f\u75c5\u540d\u304c\u5b9a\u7740\u3057\u307e\u3057\u305f\u3002\u307e\u305f\u3001\u65e5\u672c\u306e\u5927\u5802\uff08Ohdo\uff09\u533b\u5e2b\u3089\u304c\u5831\u544a\u3057\u305f\u300cOhdo\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u30b0\u30eb\u30fc\u30d7\u3068\u75c7\u72b6\u304c\u91cd\u306a\u3063\u3066\u3044\u305f\u305f\u3081\u3001\u9577\u3089\u304f\u305d\u306e\u4e00\u578b\u3068\u3057\u3066\u6271\u308f\u308c\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u3055\u308c\u3001\u3088\u308a\u6b63\u78ba\u306b\u300cKAT6B\u95a2\u9023\u75be\u60a3\u300d\u306e\u4e00\u3064\u3068\u3057\u3066\u5206\u985e\u3055\u308c\u3064\u3064\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"KAT6B%E9%96%A2%E9%80%A3%E7%96%BE%E6%82%A3%E3%81%A8%E3%81%AF%E3%81%A9%E3%82%93%E3%81%AA%E6%9E%A0%E7%B5%84%E3%81%BF%EF%BC%9F\"><\/span>KAT6B\u95a2\u9023\u75be\u60a3\u3068\u306f\u3069\u3093\u306a\u67a0\u7d44\u307f\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u3092\u7406\u89e3\u3059\u308b\u3046\u3048\u3067\u6b20\u304b\u305b\u306a\u3044\u306e\u304c\u3001KAT6B\u95a2\u9023\u75be\u60a3\u3068\u3044\u3046\u5927\u304d\u306a\u67a0\u7d44\u307f\u3067\u3059\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/16618\/blepharophimosis-intellectual-disability-syndrome-sbbys-type\" target=\"_blank\" rel=\"noopener\">GARD\uff08\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\u306e\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\uff09<\/a>\u306b\u3088\u308b\u3068\u3001KAT6B\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u8907\u6570\u306e\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6bd4\u8f03\u7684\u8efd\u75c7\u5bc4\u308a\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/blepharophimosis-impaired-intellectual-development-syndrome-biss-kat6b\/\" target=\"_blank\" rel=\"noopener\">Blepharophimosis-impaired intellectual development syndrome\uff08BISS\uff09<\/a>\u304b\u3089\u3001SBBYSS\u3092\u7d4c\u3066\u3001\u3088\u308a\u91cd\u75c7\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genitopatellar-syndrome-guide\/\" target=\"_blank\" rel=\"noopener\">Genitopatellar\u75c7\u5019\u7fa4<\/a>\u307e\u3067\u3001\u5e45\u304c\u3042\u308a\u307e\u3059\u3002\u75c7\u72b6\u304c\u91cd\u306a\u308a\u5408\u3046\u3001\u4e00\u7d9a\u304d\u306e\u30b0\u30eb\u30fc\u30d7\u306a\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u540c\u3058\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u3082\u3001\u5909\u7570\u304c\u8d77\u304d\u308b\u5834\u6240\u306b\u3088\u3063\u3066\u73fe\u308c\u65b9\u304c\u5909\u308f\u3063\u3066\u304d\u307e\u3059\u3002\u3053\u306e\u70b9\u306f\u300c\u539f\u56e0\u300d\u306e\u7ae0\u3067\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E3%81%A9%E3%82%93%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%8C%E3%81%82%E3%82%89%E3%82%8F%E3%82%8C%E3%82%8B%EF%BC%9F\"><\/span><strong>2. \u3069\u3093\u306a\u75c7\u72b6\u304c\u3042\u3089\u308f\u308c\u308b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u75c7\u72b6\u306e\u7a0b\u5ea6\u3084\u73fe\u308c\u65b9\u306f\u304a\u5b50\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u6bd4\u8f03\u7684\u5171\u901a\u3057\u3066\u307f\u3089\u308c\u308b\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u3059\u3079\u3066\u306e\u75c7\u72b6\u304c\u305d\u308d\u3046\u308f\u3051\u3067\u306f\u306a\u3044\u70b9\u3092\u3001\u307e\u305a\u62bc\u3055\u3048\u3066\u304a\u3044\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%A9%E3%82%93%E3%81%AA%E9%A1%94%E7%AB%8B%E3%81%A1%E3%81%AE%E7%89%B9%E5%BE%B4%E3%81%8C%E3%81%82%E3%82%8B%EF%BC%9F\"><\/span>\u3069\u3093\u306a\u9854\u7acb\u3061\u306e\u7279\u5fb4\u304c\u3042\u308b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8a3a\u65ad\u306e\u304d\u3063\u304b\u3051\u3068\u306a\u308a\u3084\u3059\u3044\u3001\u6700\u3082\u969b\u7acb\u3063\u305f\u7279\u5fb4\u3067\u3059\u3002\u591a\u304f\u306e\u5834\u5408\u3001\u8868\u60c5\u306e\u52d5\u304d\u304c\u5c11\u306a\u3044\u300c\u4eee\u9762\u69d8\u9854\u8c8c\u300d\u3068\u8868\u73fe\u3055\u308c\u308b\u3001\u6574\u3063\u305f\u304a\u9854\u7acb\u3061\u3092\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u76ee\u306e\u6a2a\u5e45\u304c\u72ed\u304f\u306a\u308b\u773c\u77bc\u88c2\u72ed\u5c0f\u3001\u307e\u3076\u305f\u3092\u6301\u3061\u4e0a\u3052\u308b\u529b\u304c\u5f31\u3044\u773c\u77bc\u4e0b\u5782\u3001\u76ee\u982d\u306e\u76ae\u819a\u304c\u88ab\u3055\u308b\u5185\u773c\u89d2\u8d05\u76ae\u304c\u4ee3\u8868\u7684\u306a\u6240\u898b\u3067\u3059\u3002\u6d99\u306e\u901a\u308a\u9053\u304c\u72ed\u304f\u306a\u308b\u6d99\u9053\u72ed\u7a84\u3092\u4f34\u3046\u3053\u3068\u3082\u591a\u304f\u3001\u6d99\u76ee\u3084\u76ee\u3084\u306b\u304c\u5897\u3048\u308b\u539f\u56e0\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9f3b\u7b4b\u304c\u592a\u304f\u3001\u9f3b\u5148\u304c\u4e38\u307f\u3092\u5e2f\u3073\u305f\u5f62\u72b6\u3092\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u53e3\u306f\u5c0f\u3055\u3081\u3067\u4eba\u4e2d\u304c\u9577\u3044\u3068\u3044\u3046\u7279\u5fb4\u3082\u898b\u3089\u308c\u307e\u3059\u3002\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u306e\u5f62\u304c\u72ec\u7279\u3067\u3042\u308b\u3068\u3044\u3063\u305f\u6240\u898b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u5916\u6765\u3067\u300c\u306a\u305c\u3053\u3093\u306a\u306b\u76ee\u304c\u7d30\u304f\u3066\u3001\u307e\u3076\u305f\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\u306e\u3067\u3059\u304b\u300d\u3068\u5c0b\u306d\u3089\u308c\u305f\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7b54\u3048\u306f\u3001\u307e\u3076\u305f\u3092\u6301\u3061\u4e0a\u3052\u308b\u7b4b\u8089\u3068\u76ee\u306e\u307e\u308f\u308a\u306e\u9aa8\u683c\u5f62\u6210\u306b\u3001KAT6B\u907a\u4f1d\u5b50\u304c\u6df1\u304f\u95a2\u308f\u3063\u3066\u3044\u308b\u305f\u3081\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E3%82%84%E7%A5%9E%E7%B5%8C%E3%81%AE%E9%9D%A2%E3%81%A7%E3%81%AF%E3%81%A9%E3%82%93%E3%81%AA%E7%89%B9%E5%BE%B4%E3%81%8C%E3%81%82%E3%82%8B%EF%BC%9F\"><\/span>\u767a\u9054\u3084\u795e\u7d4c\u306e\u9762\u3067\u306f\u3069\u3093\u306a\u7279\u5fb4\u304c\u3042\u308b\uff1f<span 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u304f\u3001\u7279\u306b\u8a00\u8449\u306e\u9045\u308c\u304c\u76ee\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u76f8\u624b\u306e\u8a00\u3063\u3066\u3044\u308b\u3053\u3068\u306f\u7406\u89e3\u3057\u3066\u3044\u3066\u3082\u3001\u81ea\u5206\u304b\u3089\u8a00\u8449\u3092\u767a\u3059\u308b\u3053\u3068\u304c\u82e6\u624b\u306a\u5834\u5408\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u8d64\u3061\u3083\u3093\u306e\u9803\u306f\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u62b1\u3063\u3053\u3057\u305f\u3068\u304d\u306b\u3075\u306b\u3083\u3063\u3068\u3057\u3066\u3044\u308b\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u304c\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306b\u3064\u306a\u304c\u308b\u4e00\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%AA%A8%E6%A0%BC%E3%82%84%E6%89%8B%E8%B6%B3%E3%81%AB%E3%81%AF%E3%81%A9%E3%82%93%E3%81%AA%E7%89%B9%E5%BE%B4%E3%81%8C%E3%81%82%E3%82%8B%EF%BC%9F\"><\/span>\u9aa8\u683c\u3084\u624b\u8db3\u306b\u306f\u3069\u3093\u306a\u7279\u5fb4\u304c\u3042\u308b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u624b\u8db3\u3084\u95a2\u7bc0\u306b\u3082\u3001\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u3068\u306a\u308b\u7279\u5fb4\u304c\u73fe\u308c\u307e\u3059\u3002\u624b\u8db3\u306e\u89aa\u6307\u304c\u4ed6\u306e\u6307\u3088\u308a\u9577\u304f\u5e45\u5e83\u3067\u3042\u308b\u3053\u3068\u306f\u3001\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u95a2\u7bc0\u304c\u67d4\u3089\u304b\u304f\u53ef\u52d5\u57df\u304c\u5e83\u3044\u4e00\u65b9\u3001\u9006\u306b\u95a2\u7bc0\u304c\u786c\u304f\u306a\u308b\u62d8\u7e2e\u3092\u4f34\u3046\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u819d\u306e\u304a\u76bf\u304c\u5c0f\u3055\u3044\u3001\u3042\u308b\u3044\u306f\u6b20\u640d\u3057\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u8131\u81fc\u3057\u3084\u3059\u3044\u50be\u5411\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6574\u5f62\u5916\u79d1\u3067\u306e\u5b9a\u671f\u7684\u306a\u89b3\u5bdf\u304c\u671b\u307e\u3057\u3044\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%B2%E7%8A%B6%E8%85%BA%E3%82%84%E5%85%A8%E8%BA%AB%E3%81%AB%E3%81%AF%E3%81%A9%E3%82%93%E3%81%AA%E5%90%88%E4%BD%B5%E7%97%87%E3%81%8C%E3%81%82%E3%82%8B%EF%BC%9F\"><\/span>\u7532\u72b6\u817a\u3084\u5168\u8eab\u306b\u306f\u3069\u3093\u306a\u5408\u4f75\u75c7\u304c\u3042\u308b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5065\u5eb7\u7ba1\u7406\u306e\u3046\u3048\u3067\u3001\u7279\u306b\u6ce8\u610f\u3057\u305f\u3044\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<strong>\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3092\u5408\u4f75\u3059\u308b\u983b\u5ea6\u304c\u9ad8\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\u304c\u4e0d\u8db3\u3059\u308b\u3068\u3001\u6d3b\u6c17\u306e\u4f4e\u4e0b\u3084\u4fbf\u79d8\u3001\u4f53\u91cd\u306e\u5897\u3048\u306b\u304f\u3055\u3001\u767a\u9054\u306e\u3055\u3089\u306a\u308b\u9045\u308c\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002\u8840\u6db2\u691c\u67fb\u3067\u65e9\u671f\u306b\u898b\u3064\u3051\u3001\u85ac\u3067\u88dc\u3046\u3053\u3068\u3067\u6539\u5584\u304c\u898b\u8fbc\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u307b\u304b\u3001\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u306a\u3069\u306e\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3001\u7537\u306e\u5b50\u3067\u306f\u505c\u7559\u7cbe\u5de3\u3001\u6b6f\u306e\u840c\u51fa\u9045\u5ef6\u3001\u96e3\u8074\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3059\u3079\u3066\u306e\u60a3\u8005\u3055\u3093\u306b\u5171\u901a\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u5b9a\u671f\u7684\u306a\u591a\u79d1\u53d7\u8a3a\u3067\u65e9\u3081\u306b\u628a\u63e1\u3057\u3066\u304a\u304f\u3068\u5b89\u5fc3\u3067\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/23477200_s-1.webp\" alt=\"\u304a\u5b50\u3055\u3093\u3068\u3054\u5bb6\u65cf\u306e\u30a4\u30e1\u30fc\u30b8\" class=\"wp-image-121573\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E5%8E%9F%E5%9B%A0%E3%81%A8%E3%81%AA%E3%82%8BKAT6B%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%A4%89%E5%8C%96%E3%81%A8%E3%81%AF%EF%BC%9F\"><\/span><strong>3. \u539f\u56e0\u3068\u306a\u308bKAT6B\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3068\u306f\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3054\u5bb6\u65cf\u304c\u300c\u306a\u305c\u300d\u3068\u60a9\u307f\u3001\u3068\u304d\u306b\u3054\u81ea\u8eab\u3092\u8cac\u3081\u3066\u3057\u307e\u3046\u306e\u304c\u539f\u56e0\u306b\u3064\u3044\u3066\u3067\u3059\u3002<\/strong>\u58f0\u3092\u5927\u306b\u3057\u3066\u304a\u4f1d\u3048\u3057\u305f\u3044\u306e\u306f\u3001\u3054\u4e21\u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u304c\u539f\u56e0\u3067\u306f\u306a\u3044\u3068\u3044\u3046\u70b9\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"KAT6B%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AF%E3%81%A9%E3%82%93%E3%81%AA%E5%83%8D%E3%81%8D%E3%82%92%E3%81%97%E3%81%A6%E3%81%84%E3%82%8B%EF%BC%9F\"><\/span>KAT6B\u907a\u4f1d\u5b50\u306f\u3069\u3093\u306a\u50cd\u304d\u3092\u3057\u3066\u3044\u308b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u77e5\u308b\u3068\u3001\u75c7\u72b6\u304c\u5168\u8eab\u306b\u53ca\u3076\u7406\u7531\u304c\u898b\u3048\u3066\u304d\u307e\u3059\u3002SBBYSS\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u306f\u300110\u756a\u67d3\u8272\u4f53\u306b\u3042\u308bKAT6B\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u4e0d\u5168\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u30d2\u30b9\u30c8\u30f3\u30a2\u30bb\u30c1\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\u3068\u3044\u3046\u9175\u7d20\u306e\u8a2d\u8a08\u56f3\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u907a\u4f1d\u5b50\u306f\u30c6\u30fc\u30d7\u306e\u3088\u3046\u306b\u5dfb\u304b\u308c\u3066\u53ce\u7d0d\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001KAT6B\u306f\u305d\u306e\u30c6\u30fc\u30d7\u3092\u7de9\u3081\u3066\u8aad\u307f\u53d6\u308a\u3084\u3059\u304f\u3059\u308b\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3044\u308f\u3070\u3001\u8133\u3084\u9aa8\u683c\u3092\u3064\u304f\u308b\u7121\u6570\u306e\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u5165\u308c\u308b\u6307\u63ee\u8005\u306e\u3088\u3046\u306a\u5b58\u5728\u3067\u3059\u3002\u3053\u306e\u6307\u63ee\u306e\u305a\u308c\u304c\u3001\u307e\u3076\u305f\u306e\u5f62\u6210\u3084\u8133\u306e\u767a\u9054\u3001\u9aa8\u306e\u6210\u9577\u306a\u3069\u3001\u5168\u8eab\u306e\u3055\u307e\u3056\u307e\u306a\u5834\u6240\u3067\u540c\u6642\u306b\u5c0f\u3055\u306a\u30c8\u30e9\u30d6\u30eb\u3092\u5f15\u304d\u8d77\u3053\u3059\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A4%89%E7%95%B0%E3%81%AE%E8%B5%B7%E3%81%8D%E3%82%8B%E5%A0%B4%E6%89%80%E3%81%A7%E7%97%87%E7%8A%B6%E3%81%AF%E3%81%A9%E3%81%86%E5%A4%89%E3%82%8F%E3%82%8B%EF%BC%9F\"><\/span>\u5909\u7570\u306e\u8d77\u304d\u308b\u5834\u6240\u3067\u75c7\u72b6\u306f\u3069\u3046\u5909\u308f\u308b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u540c\u3058KAT6B\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u3082\u3001\u8d77\u304d\u308b\u5834\u6240\u306b\u3088\u3063\u3066\u73fe\u308c\u65b9\u304c\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/strong>\u3053\u308c\u306f\u3001\u3053\u306e\u75c5\u6c17\u3092\u7406\u89e3\u3059\u308b\u3046\u3048\u3067\u6b20\u304b\u305b\u306a\u3044\u8996\u70b9\u3067\u3059\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK114806\/\" target=\"_blank\" rel=\"noopener\">GeneReviews\u300cKAT6B Disorders\u300d<\/a>\u306b\u306f\u3001\u5909\u7570\u306e\u4f4d\u7f6e\u3068\u75c7\u72b6\u306e\u5bfe\u5fdc\u95a2\u4fc2\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002KAT6B\u907a\u4f1d\u5b50\u306e\u6700\u5f8c\u306e\u30a8\u30af\u30bd\u30f3(exon 18)\u306e\u3046\u3061\u3001\u6bd4\u8f03\u7684\u624b\u524d\u5074\u306b\u5909\u7570\u304c\u8d77\u304d\u308b\u3068Genitopatellar\u75c7\u5019\u7fa4\u306b\u306a\u308a\u3084\u3059\u304f\u3001\u3088\u308a\u5965\u5074\u3084\u4ed6\u306e\u30a8\u30af\u30bd\u30f3\u306b\u5909\u7570\u304c\u8d77\u304d\u308b\u3068SBBYSS\u75c7\u5019\u7fa4\u306b\u306a\u308a\u3084\u3059\u3044\u3001\u3068\u3044\u3046\u5bfe\u5fdc\u3067\u3059\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genitopatellar-syndrome-guide\/\" target=\"_blank\" rel=\"noopener\">Genitopatellar\u75c7\u5019\u7fa4<\/a>\u3067\u306f\u3001\u819d\u306e\u304a\u76bf\u304c\u307b\u307c\u5168\u4f8b\u3067\u6b20\u640d\u3057\u3001\u5de6\u53f3\u306e\u8133\u3092\u3064\u306a\u3050\u8133\u6881\u3068\u3044\u3046\u90e8\u5206\u306e\u4f4e\u5f62\u6210\u3001\u6027\u5668\u306e\u7570\u5e38\u304c\u4e3b\u4f53\u306b\u306a\u308a\u307e\u3059\u3002\u4e00\u65b9\u3067SBBYSS\u75c7\u5019\u7fa4\u3067\u306f\u3001\u4eee\u9762\u69d8\u9854\u8c8c\u3084\u773c\u77bc\u4e0b\u5782\u3001\u9577\u3044\u89aa\u6307\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u3088\u308a\u524d\u9762\u306b\u51fa\u308b\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3069\u3061\u3089\u3082\u540c\u3058\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3042\u308b\u3001\u3044\u308f\u3070\u300c\u5144\u5f1f\u306e\u3088\u3046\u306a\u75c5\u6c17\u300d\u3067\u3059\u3002\u75c7\u72b6\u306e\u91cd\u306a\u308a\u3068\u9055\u3044\u3092\u7406\u89e3\u3057\u3066\u304a\u304f\u3068\u3001\u8a3a\u65ad\u540d\u3078\u306e\u7d0d\u5f97\u611f\u304c\u9ad8\u307e\u308b\u306f\u305a\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E3%81%99%E3%82%8B%E7%97%85%E6%B0%97%E3%81%AA%E3%81%AE%EF%BC%9F\"><\/span>\u907a\u4f1d\u3059\u308b\u75c5\u6c17\u306a\u306e\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u3053\u306e\u75c5\u6c17\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u304c\u3001SBBYSS\u75c7\u5019\u7fa4\u306e\u5927\u591a\u6570\u306f\u300c\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09\u300d\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u3064\u304f\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5f8c\u306e\u975e\u5e38\u306b\u65e9\u3044\u7d30\u80de\u5206\u88c2\u306e\u6bb5\u968e\u3067\u3001\u5076\u7136KAT6B\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u8d77\u304d\u305f\u3082\u306e\u3067\u3059\u3002\u3054\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306b\u306f\u7570\u5e38\u304c\u306a\u3044\u30b1\u30fc\u30b9\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u3001\u81ea\u7136\u306e\u78ba\u7387\u7684\u306a\u73fe\u8c61\u3002\u9632\u3050\u3053\u3068\u306f\u3001\u73fe\u4ee3\u306e\u533b\u5b66\u3067\u306f\u4e0d\u53ef\u80fd\u3067\u3059\u3002\u6975\u3081\u3066\u307e\u308c\u306b\u3001\u75c7\u72b6\u306e\u8efd\u3044\u89aa\u5fa1\u3055\u3093\u304b\u3089\u907a\u4f1d\u3059\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u57fa\u672c\u7684\u306b\u306f\u5076\u7136\u8d77\u304d\u305f\u5909\u5316\u3068\u8003\u3048\u3066\u5dee\u3057\u652f\u3048\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E3%81%A9%E3%81%86%E3%82%84%E3%81%A3%E3%81%A6%E8%A8%BA%E6%96%AD%E3%81%99%E3%82%8B%EF%BC%9F\"><\/span><strong>4. \u3069\u3046\u3084\u3063\u3066\u8a3a\u65ad\u3059\u308b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8a3a\u65ad\u306f\u3001\u7279\u5fb4\u7684\u306a\u8eab\u4f53\u6240\u898b\u3068\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u3046\u306e\u304c\u57fa\u672c\u3067\u3059\u3002<\/strong>\u3069\u3061\u3089\u304b\u4e00\u65b9\u3060\u3051\u3067\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E5%AF%9F%E3%81%A7%E3%81%AF%E4%BD%95%E3%82%92%E8%A6%8B%E3%81%A6%E3%81%84%E3%82%8B%EF%BC%9F\"><\/span>\u8a3a\u5bdf\u3067\u306f\u4f55\u3092\u898b\u3066\u3044\u308b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u533b\u5e2b\u306f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7279\u5fb4\u304c\u63c3\u3063\u3066\u3044\u308b\u304b\u3092\u8a73\u3057\u304f\u8a3a\u5bdf\u3057\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4eee\u9762\u69d8\u9854\u8c8c\uff08\u8868\u60c5\u304c\u5c11\u306a\u3044\u3001\u6574\u3063\u305f\u9854\u7acb\u3061\uff09<\/li>\n\n\n<li>\u773c\u77bc\u88c2\u72ed\u5c0f\u30fb\u773c\u77bc\u4e0b\u5782<\/li>\n\n\n<li>\u7403\u72b6\u3067\u4e38\u307f\u3092\u5e2f\u3073\u305f\u9f3b<\/li>\n\n\n<li>\u9577\u3044\u89aa\u6307\u3001\u8db3\u306e\u89aa\u6307<\/li>\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u6240\u898b\u304c\u91cd\u306a\u308b\u5834\u5408\u3001SBBYSS\u75c7\u5019\u7fa4\u304c\u5f37\u304f\u7591\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%AB%E3%81%AF%E3%81%A9%E3%82%93%E3%81%AA%E6%A4%9C%E6%9F%BB%E3%81%8C%E5%BF%85%E8%A6%81%EF%BC%9F\"><\/span>\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3069\u3093\u306a\u691c\u67fb\u304c\u5fc5\u8981\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001\u8840\u6db2\u691c\u67fb\u306b\u3088\u308bDNA\u89e3\u6790\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/strong>\u307e\u305aKAT6B\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u3057\u305f\u30b7\u30fc\u30af\u30a8\u30f3\u30b9\u89e3\u6790\uff08\u691c\u51fa\u738798%\u8d85\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5909\u7570\u304c\u898b\u3064\u304b\u3089\u306a\u3044\u5834\u5408\u306f\u3001\u6b20\u5931\u30fb\u91cd\u8907\u306e\u89e3\u6790\u3001\u3042\u308b\u3044\u306f\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u3078\u3068\u9032\u3080\u306e\u304c\u4e00\u822c\u7684\u306a\u6d41\u308c\u3067\u3059\u3002\u3053\u306e\u691c\u67fb\u306b\u3088\u308a\u3001Ohdo\u75c7\u5019\u7fa4\u306e\u4ed6\u306e\u30bf\u30a4\u30d7\u3084\u3001\u75c7\u72b6\u306e\u4f3c\u305f\u4ed6\u306e\u75be\u60a3\u3068\u660e\u78ba\u306b\u533a\u5225\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AF%E3%81%A9%E3%81%86%E3%82%84%E3%81%A3%E3%81%A6%E8%AA%BF%E3%81%B9%E3%82%8B%EF%BC%9F\"><\/span>\u5408\u4f75\u75c7\u306f\u3069\u3046\u3084\u3063\u3066\u8abf\u3079\u308b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5408\u4f75\u75c7\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u308b\u691c\u67fb\u3067\u3059\u3002\u982d\u90e8MRI\u3067\u8133\u306e\u69cb\u9020\u3092\u3001\u5fc3\u81d3\u30a8\u30b3\u30fc\u3067\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30ec\u30f3\u30c8\u30b2\u30f3\u3067\u306f\u9aa8\u683c\u306e\u72b6\u614b\u3001\u7279\u306b\u819d\u84cb\u9aa8\u306e\u6709\u7121\u3084\u80a1\u95a2\u7bc0\u306e\u72b6\u614b\u3092\u8abf\u3079\u307e\u3059\u3002\u7532\u72b6\u817a\u523a\u6fc0\u30db\u30eb\u30e2\u30f3\uff08TSH\uff09\u3068\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\uff08FT4\uff09\u306e\u8840\u6db2\u691c\u67fb\u3082\u6b20\u304b\u305b\u307e\u305b\u3093\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%E3%81%AF%E3%81%A9%E3%81%86%E9%80%B2%E3%82%81%E3%82%8B%EF%BC%9F\"><\/span><strong>5. \u6cbb\u7642\u3068\u7ba1\u7406\u306f\u3069\u3046\u9032\u3081\u308b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>KAT6B\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6839\u672c\u6cbb\u7642\u306f\u3001\u73fe\u4ee3\u306e\u533b\u7642\u3067\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u3057\u304b\u3057\u3001\u6cbb\u7642\u6cd5\u304c\u306a\u3044\u3053\u3068\u306f\u3001\u4f55\u3082\u3067\u304d\u306a\u3044\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u7642\u80b2\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u529b\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3057\u3001\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9B%AE%E3%81%AE%E6%B2%BB%E7%99%82%E3%81%AF%E3%81%A9%E3%81%86%E3%81%99%E3%82%8B%EF%BC%9F\"><\/span>\u76ee\u306e\u6cbb\u7642\u306f\u3069\u3046\u3059\u308b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u898b\u3048\u306b\u304f\u3055\u3092\u653e\u7f6e\u3059\u308b\u3068\u3001\u5f31\u8996\u306b\u3064\u306a\u304c\u308b\u304a\u305d\u308c\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u307e\u3076\u305f\u304c\u4e0b\u304c\u3063\u3066\u8996\u754c\u3092\u59a8\u3052\u308b\u72b6\u614b\u304c\u5f37\u3044\u5834\u5408\u3001\u8996\u529b\u306e\u767a\u9054\u3092\u4fc3\u3059\u305f\u3081\u306b\u624b\u8853\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u624b\u8853\uff08\u773c\u77bc\u6319\u7b4b\u77ed\u7e2e\u8853\u3084\u540a\u308a\u4e0a\u3052\u8853\uff09\u306e\u6642\u671f\u306f\u3001\u8996\u529b\u3078\u306e\u5f71\u97ff\u3068\u5168\u8eab\u72b6\u614b\u3092\u8e0f\u307e\u3048\u3001\u773c\u79d1\u533b\u3068\u5f62\u6210\u5916\u79d1\u533b\u304c\u76f8\u8ac7\u3057\u3066\u6c7a\u3081\u307e\u3059\u3002\u6d99\u9053\u304c\u72ed\u3044\u5834\u5408\u306f\u3001\u6d99\u9053\u306e\u51e6\u7f6e\u3082\u3042\u308f\u305b\u3066\u884c\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%B2%E7%8A%B6%E8%85%BA%E3%81%AE%E6%A9%9F%E8%83%BD%E3%81%AF%E3%81%A9%E3%81%86%E7%AE%A1%E7%90%86%E3%81%99%E3%82%8B%EF%BC%9F\"><\/span>\u7532\u72b6\u817a\u306e\u6a5f\u80fd\u306f\u3069\u3046\u7ba1\u7406\u3059\u308b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u306e\u5bfe\u5fdc\u306f\u3001\u6bd4\u8f03\u7684\u30b7\u30f3\u30d7\u30eb\u3067\u3059\u3002<\/strong>\u4e0d\u8db3\u3057\u3066\u3044\u308b\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\u3092\u88dc\u3046\u85ac\u3092\u3001\u6bce\u65e5\u98f2\u307f\u7d9a\u3051\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u52b9\u679c\u306f\u5206\u304b\u308a\u3084\u3059\u304f\u3001\u6d3b\u6c17\u304c\u51fa\u308b\u3001\u4fbf\u79d8\u304c\u6539\u5584\u3059\u308b\u3001\u767a\u9054\u306b\u3088\u3044\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3068\u3044\u3063\u305f\u5909\u5316\u3092\u5b9f\u611f\u3057\u3084\u3059\u3044\u6cbb\u7642\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%97%A9%E6%9C%9F%E7%99%82%E8%82%B2%E3%81%AF%E3%81%AA%E3%81%9C%E5%BF%85%E8%A6%81%EF%BC%9F\"><\/span>\u65e9\u671f\u7642\u80b2\u306f\u306a\u305c\u5fc5\u8981\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u8133\u3084\u4f53\u306e\u767a\u9054\u3092\u4fc3\u3059\u306b\u306f\u3001\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3067\u306f\u4f53\u5e79\u3092\u935b\u3048\u3001\u6b69\u884c\u306e\u5b89\u5b9a\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3067\u306f\u624b\u5148\u306e\u7d30\u304b\u3044\u52d5\u304d\u3084\u3001\u7740\u66ff\u3048\u30fb\u98df\u4e8b\u3068\u3044\u3063\u305f\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u306e\u81ea\u7acb\u3092\u652f\u3048\u307e\u3059\u3002\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3067\u306f\u3001\u767a\u8a9e\u306e\u7df4\u7fd2\u306b\u52a0\u3048\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u3092\u4f7f\u3063\u305f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u65b9\u6cd5\u306e\u7372\u5f97\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a71\u3059\u3053\u3068\u304c\u82e6\u624b\u3067\u3082\u3001\u7406\u89e3\u3059\u308b\u529b\u306f\u80b2\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u3044\u304a\u5b50\u3055\u3093\u305f\u3061\u3067\u3059\u3002\u610f\u601d\u3092\u4f1d\u3048\u308b\u624b\u6bb5\u3092\u5897\u3084\u3059\u3053\u3068\u306f\u3001\u30b9\u30c8\u30ec\u30b9\u3092\u6e1b\u3089\u3059\u3046\u3048\u3067\u3068\u3066\u3082\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E3%82%84%E6%AD%AF%E7%A7%91%E3%81%AE%E3%82%B1%E3%82%A2%E3%81%AF%E3%81%A9%E3%81%86%E3%81%99%E3%82%8B%EF%BC%9F\"><\/span>\u6574\u5f62\u5916\u79d1\u3084\u6b6f\u79d1\u306e\u30b1\u30a2\u306f\u3069\u3046\u3059\u308b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u95a2\u7bc0\u3084\u6b6f\u306e\u554f\u984c\u306b\u3082\u3001\u7d99\u7d9a\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u304c\u5fc5\u8981\u3067\u3059\u3002<\/strong>\u95a2\u7bc0\u304c\u7de9\u3044\u3001\u3042\u308b\u3044\u306f\u819d\u306e\u304a\u76bf\u306b\u554f\u984c\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u6574\u5f62\u5916\u79d1\u3067\u306e\u5b9a\u671f\u89b3\u5bdf\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u8db3\u5e95\u677f\uff08\u30a4\u30f3\u30bd\u30fc\u30eb\uff09\u3084\u88c5\u5177\u3067\u6b69\u884c\u3092\u652f\u3048\u307e\u3059\u3002\u6b6f\u306e\u751f\u3048\u5909\u308f\u308a\u3084\u6b6f\u4e26\u3073\u306e\u554f\u984c\u306b\u306f\u3001\u5b9a\u671f\u7684\u306a\u6b6f\u79d1\u691c\u8a3a\u3067\u5bfe\u5fdc\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E4%BA%88%E5%BE%8C%E3%81%A8%E7%94%9F%E6%B4%BB%E3%81%AF%E3%81%A9%E3%81%86%E3%81%AA%E3%82%8B%EF%BC%9F\"><\/span><strong>6. \u4e88\u5f8c\u3068\u751f\u6d3b\u306f\u3069\u3046\u306a\u308b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3053\u306e\u75c5\u6c17\u306f\u3001\u9032\u884c\u6027\uff08\u3060\u3093\u3060\u3093\u60aa\u304f\u306a\u308b\u75c5\u6c17\uff09\u3067\u306f\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u3086\u3063\u304f\u308a\u3067\u306f\u3042\u3063\u3066\u3082\u3001\u304a\u5b50\u3055\u3093\u306f\u78ba\u5b9f\u306b\u6210\u9577\u3057\u3001\u3067\u304d\u308b\u3053\u3068\u304c\u5897\u3048\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u65b0\u751f\u5150\u671f\u306b\u306f\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u3088\u308b\u54fa\u4e73\u3084\u547c\u5438\u306e\u56f0\u96e3\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u4e73\u5150\u671f\u306e\u3046\u3061\u306b\u843d\u3061\u7740\u3044\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u3044\u5fc3\u81d3\u75be\u60a3\u3092\u5408\u4f75\u3057\u3066\u3044\u306a\u3051\u308c\u3070\u3001\u751f\u547d\u4e88\u5f8c\u306f\u6bd4\u8f03\u7684\u826f\u597d\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u75c7\u4f8b\u6570\u304c\u307e\u3060\u9650\u3089\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u9577\u671f\u7684\u306a\u898b\u901a\u3057\u3092\u65ad\u5b9a\u3059\u308b\u3053\u3068\u306f\u96e3\u3057\u3044\u306e\u304c\u5b9f\u60c5\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u306f\u8a3a\u5bdf\u306e\u306a\u304b\u3067\u3001\u300c\u3053\u306e\u5b50\u306f\u3044\u3064\u304b\u6b69\u3051\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u304b\u300d\u3068\u5c0b\u306d\u3089\u308c\u308b\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\u3059\u3002\u500b\u4eba\u5dee\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u9045\u308c\u306a\u304c\u3089\u3082\u72ec\u308a\u6b69\u304d\u3092\u7372\u5f97\u3059\u308b\u304a\u5b50\u3055\u3093\u306f\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u7126\u3089\u305a\u7642\u80b2\u3092\u7d9a\u3051\u308b\u3053\u3068\u304c\u3001\u7d50\u679c\u7684\u306b\u4e00\u756a\u306e\u8fd1\u9053\u306b\u306a\u308b\u3068\u611f\u3058\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_NIPT%EF%BC%88%E6%96%B0%E5%9E%8B%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%EF%BC%89%E3%81%A7SBBYSS%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8B%EF%BC%9F\"><\/span><strong>7. NIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\u3067SBBYSS\u75c7\u5019\u7fa4\u306f\u308f\u304b\u308b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3053\u306e\u75c5\u6c17\u306f\u3001\u901a\u5e38\u306e\u57fa\u672cNIPT\u306e\u30d1\u30cd\u30eb\u3067\u306f\u5bfe\u8c61\u5916\u3068\u306a\u308b\u75be\u60a3\u3067\u3059\u3002<\/strong>SBBYSS\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066\u691c\u7d22\u3055\u308c\u305f\u65b9\u306b\u3068\u3063\u3066\u3001\u3082\u3063\u3068\u3082\u62bc\u3055\u3048\u3066\u304a\u304d\u305f\u3044\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u822c\u7684\u306aNIPT\u304c\u8abf\u3079\u3066\u3044\u308b\u306e\u306f\u300121\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u3068\u3044\u3046\u67d3\u8272\u4f53\u306e\u300c\u6570\u300d\u306e\u5909\u5316\u304c\u4e2d\u5fc3\u3067\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-detectable-conditions\/\" target=\"_blank\" rel=\"noopener\">NIPT\u3067\u898b\u3064\u304b\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u969c\u5bb3\u306e\u7bc4\u56f2<\/a>\u306f\u67d3\u8272\u4f53\u7570\u6570\u6027\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u304c\u4e2d\u5fc3\u3067\u3001SBBYSS\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306a\u4e00\u3064\u306e\u907a\u4f1d\u5b50\u306e\u4e2d\u306e\u5909\u7570\u306f\u3001\u539f\u7406\u4e0a\u3068\u3089\u3048\u306b\u304f\u3044\u5bfe\u8c61\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u3084\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3200\u7a2e\u985e\u4ee5\u4e0a\u3092\u5bfe\u8c61\u3068\u3059\u308b\u62e1\u5f35\u691c\u67fb\u3082\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u5bfe\u8c61\u75be\u60a3\u306e\u30d1\u30cd\u30eb\u69cb\u6210\u306f\u691c\u67fb\u4f1a\u793e\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002SBBYSS\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306a\u6975\u3081\u3066\u307e\u308c\u306a\u75be\u60a3\u304c\u500b\u3005\u306e\u30d1\u30cd\u30eb\u306b\u542b\u307e\u308c\u308b\u304b\u3069\u3046\u304b\u306f\u3001\u4e8b\u524d\u306e\u78ba\u8a8d\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3053\u3053\u3067\u62bc\u3055\u3048\u3066\u304a\u304d\u305f\u3044\u306e\u306f\u3001<strong>NIPT\u306f\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb<\/strong>\u3060\u3068\u3044\u3046\u70b9\u3067\u3059\u3002\u57fa\u672c\u30c8\u30ea\u30bd\u30df\u30fc\u306b\u5bfe\u3057\u3066\u306f\u9ad8\u3044\u691c\u51fa\u611f\u5ea6\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u305d\u308c\u306f\u67d3\u8272\u4f53\u6570\u306e\u5909\u5316\u3092\u5bfe\u8c61\u3068\u3057\u305f\u5834\u5408\u306e\u6570\u5024\u3067\u3042\u308a\u3001\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306e\u691c\u51fa\u529b\u3092\u793a\u3059\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-statistics-probability\/\" target=\"_blank\" rel=\"noopener\">NIPT\u3067\u5206\u304b\u308b\u77e5\u7684\u969c\u5bb3\u306e\u78ba\u7387\u3068\u9650\u754c<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u3059\u3067\u306b\u3054\u5bb6\u65cf\u306bKAT6B\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u8a3a\u65ad\u6b74\u304c\u3042\u308a\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u5f71\u97ff\u3092\u5fc3\u914d\u3055\u308c\u3066\u3044\u308b\u5834\u5408\u306f\u3001NIPT\u3067\u306f\u306a\u304f\u78ba\u5b9a\u691c\u67fb\u304c\u9078\u629e\u80a2\u306b\u306a\u308a\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\" target=\"_blank\" rel=\"noopener\">\u7f8a\u6c34\u691c\u67fb\u306a\u3069\u306e\u78ba\u5b9a\u691c\u67fb<\/a>\u3067KAT6B\u907a\u4f1d\u5b50\u3092\u6a19\u7684\u306b\u3057\u305f\u89e3\u6790\u3092\u884c\u3046\u3001\u3042\u308b\u3044\u306f\u7740\u5e8a\u524d\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08PGT-M\uff09\u3092\u691c\u8a0e\u3059\u308b\u6d41\u308c\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u306a\u304a\u3001\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306eNIPT\u691c\u67fb\u306f\u3001\u56fd\u5185\u306e\u691c\u67fb\u6a5f\u95a2\uff08\u6771\u4eac\u885b\u751f\u691c\u67fb\u6240\uff09\u3067\u5b9f\u65bd\u3057\u3066\u3044\u307e\u3059\u3002\u691c\u67fb\u306e\u5bfe\u5fdc\u7bc4\u56f2\u306b\u3064\u3044\u3066\u4e0d\u660e\u306a\u70b9\u304c\u3042\u308c\u3070\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u306a\u304b\u3067\u3054\u8cea\u554f\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E6%94%AF%E6%8F%B4%E5%88%B6%E5%BA%A6%E3%81%A8%E7%9B%B8%E8%AB%87%E7%AA%93%E5%8F%A3%E3%81%AF%EF%BC%9F%E3%80%80%E3%81%BE%E3%81%9A%E4%BD%95%E3%81%8B%E3%82%89%E5%A7%8B%E3%82%81%E3%82%8B%EF%BC%9F\"><\/span><strong>8. \u652f\u63f4\u5236\u5ea6\u3068\u76f8\u8ac7\u7a93\u53e3\u306f\uff1f\u3000\u307e\u305a\u4f55\u304b\u3089\u59cb\u3081\u308b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u3089\u3001\u6cbb\u7642\u3068\u4e26\u884c\u3057\u3066\u4f7f\u3048\u308b\u516c\u7684\u652f\u63f4\u3092\u65e9\u3081\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/strong>\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u7a93\u53e3\u306b\u76f8\u8ac7\u3059\u308b\u3053\u3068\u304c\u7d50\u679c\u7684\u306b\u8fd1\u9053\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u306e\u9045\u308c\u3084\u5fc3\u75be\u60a3\u306a\u3069\u3092\u4f34\u3046\u75be\u60a3\u306e\u591a\u304f\u306f\u3001\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u3084\u6307\u5b9a\u96e3\u75c5\u306e\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u5bfe\u8c61\u3068\u306a\u308b\u304b\u3069\u3046\u304b\u306f\u3001\u901a\u9662\u5148\u306e\u4e3b\u6cbb\u533b\u307e\u305f\u306f\u533b\u7642\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30ab\u30fc\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u7642\u80b2\u624b\u5e33\u30fb\u8eab\u4f53\u969c\u5bb3\u8005\u624b\u5e33\u306e\u53d6\u5f97\u306f\u3001\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u3084\u624b\u5f53\u306e\u53d7\u7d66\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002\u5150\u7ae5\u767a\u9054\u652f\u63f4\u4e8b\u696d\u6240\u3084\u653e\u8ab2\u5f8c\u7b49\u30c7\u30a4\u30b5\u30fc\u30d3\u30b9\u3068\u3044\u3063\u305f\u969c\u5bb3\u5150\u901a\u6240\u652f\u63f4\u3082\u3001\u65e9\u671f\u304b\u3089\u5229\u7528\u3067\u304d\u308b\u9078\u629e\u80a2\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305a\u4f55\u304b\u3089\u624b\u3092\u3064\u3051\u308b\u304b\u8ff7\u3063\u305f\u3068\u304d\u306f\u3001\u901a\u9662\u5148\u306e\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30ab\u30fc\u306b\u76f8\u8ac7\u3059\u308b\u3053\u3068\u304c\u6700\u521d\u306e\u4e00\u6b69\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%E3%81%BE%E3%81%A8%E3%82%81%EF%BC%9A%E8%A8%BA%E6%96%AD%E5%90%8D%E3%81%A8%E5%90%91%E3%81%8D%E5%90%88%E3%81%86%E3%81%9F%E3%82%81%E3%81%AB\"><\/span><strong>9. \u307e\u3068\u3081\uff1a\u8a3a\u65ad\u540d\u3068\u5411\u304d\u5408\u3046\u305f\u3081\u306b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>SBBYSS\u75c7\u5019\u7fa4\u306f\u3001KAT6B\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3001Ohdo\u75c7\u5019\u7fa4\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306e\u4e00\u4e9c\u578b\u3067\u3059\u3002<\/strong>\u8a3a\u65ad\u306e\u91cd\u3055\u3060\u3051\u3067\u5c06\u6765\u3092\u6c7a\u3081\u3064\u3051\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u4eee\u9762\u69d8\u9854\u8c8c\u3084\u773c\u77bc\u4e0b\u5782\u3001\u9577\u3044\u89aa\u6307\u3068\u3044\u3063\u305f\u7279\u5fb4\u7684\u306a\u8eab\u4f53\u6240\u898b\u3068\u3001\u767a\u9054\u306e\u9045\u308c\u3001\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u306a\u3069\u306e\u5408\u4f75\u75c7\u304c\u4ee3\u8868\u7684\u306a\u7279\u5fb4\u3067\u3059\u3002\u539f\u56e0\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\u3067\u3042\u308a\u3001\u89aa\u306e\u8cac\u4efb\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6839\u672c\u6cbb\u7642\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u306a\u3044\u3082\u306e\u306e\u3001\u773c\u79d1\u7684\u6cbb\u7642\u3084\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\u306e\u88dc\u5145\u3001\u65e9\u671f\u7642\u80b2\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u529b\u3092\u4f38\u3070\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u9032\u884c\u6027\u306e\u75c5\u6c17\u3067\u306f\u306a\u304f\u3001\u3086\u3063\u304f\u308a\u3068\u78ba\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304f\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u4f8b\u6570\u304c\u307e\u3060\u5c11\u306a\u304f\u3001\u9577\u671f\u7684\u306a\u898b\u901a\u3057\u3092\u65ad\u5b9a\u3059\u308b\u3053\u3068\u306f\u96e3\u3057\u3044\u306e\u304c\u5b9f\u60c5\u3067\u3059\u3002\u305d\u308c\u3067\u3082\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u3055\u308c\u305f\u3053\u3068\u3067\u3001\u4e16\u754c\u4e2d\u306e\u75c7\u4f8b\u60c5\u5831\u304c\u7740\u5b9f\u306b\u84c4\u7a4d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5c02\u9580\u65bd\u8a2d\u3068\u306e\u7d99\u7d9a\u7684\u306a\u3064\u306a\u304c\u308a\u3092\u5927\u5207\u306b\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u6b21\u306e\u598a\u5a20\u306b\u5411\u3051\u305fNIPT\u306e\u3054\u76f8\u8ac7\u3001\u3042\u308b\u3044\u306f\u5bb6\u65cf\u6027\u75be\u60a3\u3068\u3057\u3066\u306e\u691c\u67fb\u7bc4\u56f2\u306e\u78ba\u8a8d\u306f\u3001\u4ee5\u4e0b\u304b\u3089\u4e88\u7d04\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">NIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\"><\/span><strong>\u3088\u304f\u3042\u308b\u8cea\u554f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"SBBYSS%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>SBBYSS\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>KAT6B\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u3001\u4eee\u9762\u69d8\u9854\u8c8c\u3084\u773c\u77bc\u4e0b\u5782\u3001\u767a\u9054\u306e\u9045\u308c\u306a\u3069\u304c\u751f\u3058\u308b\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u3002<\/strong>Ohdo\u75c7\u5019\u7fa4\u3068\u3044\u3046\u5927\u304d\u306a\u30b0\u30eb\u30fc\u30d7\u306e\u306a\u304b\u306e\u3001SBBYS\u578b\u306b\u3042\u305f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Genitopatellar%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%86%E9%81%95%E3%81%86%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>Genitopatellar\u75c7\u5019\u7fa4\u3068\u306f\u3069\u3046\u9055\u3046\u306e\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u3069\u3061\u3089\u3082\u540c\u3058KAT6B\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u3059\u304c\u3001\u5909\u7570\u304c\u8d77\u304d\u308b\u5834\u6240\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/strong>Genitopatellar\u75c7\u5019\u7fa4\u306f\u819d\u84cb\u9aa8\u306e\u6b20\u640d\u3084\u6027\u5668\u306e\u7570\u5e38\u304c\u3088\u308a\u524d\u9762\u306b\u51fa\u308b\u306e\u306b\u5bfe\u3057\u3001SBBYSS\u75c7\u5019\u7fa4\u306f\u4eee\u9762\u69d8\u9854\u8c8c\u3084\u773c\u77bc\u4e0b\u5782\u3001\u9577\u3044\u89aa\u6307\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"SBBYSS%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AFNIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>SBBYSS\u75c7\u5019\u7fa4\u306fNIPT\u3067\u308f\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u901a\u5e38\u306e\u57fa\u672cNIPT\u30d1\u30cd\u30eb\u306e\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u307e\u305b\u3093\u3002<\/strong>\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3067\u3042\u308a\u300121\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u306e\u67d3\u8272\u4f53\u6570\u306e\u5909\u5316\u3092\u8abf\u3079\u308b\u4e00\u822c\u7684\u306aNIPT\u3067\u306f\u691c\u51fa\u3067\u304d\u306a\u3044\u305f\u3081\u3067\u3059\u3002\u5bb6\u65cf\u6b74\u304c\u3042\u308b\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3067\u306e\u907a\u4f1d\u5b50\u89e3\u6790\u3084PGT-M\u304c\u9078\u629e\u80a2\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E3%82%82%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u6b21\u306e\u5b50\u306b\u3082\u907a\u4f1d\u3057\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u307b\u3068\u3093\u3069\u306e\u5834\u5408\u3001\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09\u306b\u3088\u3063\u3066\u767a\u75c7\u3059\u308b\u305f\u3081\u3001\u3054\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306b\u7570\u5e38\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u6b21\u306e\u304a\u5b50\u3055\u3093\u304c\u540c\u3058\u75c5\u6c17\u306b\u306a\u308b\u78ba\u7387\u306f\u3001\u4e00\u822c\u7684\u306a\u78ba\u7387\u3068\u307b\u307c\u5909\u308f\u308a\u307e\u305b\u3093\u3002\u8a73\u3057\u304f\u306f\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AD%A9%E3%81%91%E3%82%8B%E3%82%88%E3%81%86%E3%81%AB%E3%81%AA%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u6b69\u3051\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u500b\u4eba\u5dee\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u304c\u9045\u308c\u306a\u304c\u3089\u3082\u72ec\u308a\u6b69\u304d\u3092\u7372\u5f97\u3057\u307e\u3059\u3002<\/strong>\u7126\u3089\u305a\u30ea\u30cf\u30d3\u30ea\u3092\u7d9a\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%82%92%E5%8F%97%E3%81%91%E3%81%9F%E3%81%82%E3%81%A8%E3%80%81%E3%81%BE%E3%81%9A%E4%BD%95%E3%82%92%E3%81%99%E3%82%8C%E3%81%B0%E3%82%88%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3042\u3068\u3001\u307e\u305a\u4f55\u3092\u3059\u308c\u3070\u3088\u3044\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u5c0f\u5150\u79d1\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u901a\u3058\u3066\u75c7\u72b6\u306e\u5168\u4f53\u50cf\u3092\u628a\u63e1\u3057\u305f\u3046\u3048\u3067\u3001\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u3084\u6307\u5b9a\u96e3\u75c5\u306e\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u304b\u3069\u3046\u304b\u3092\u78ba\u8a8d\u3057\u3066\u304a\u304f\u3068\u5b89\u5fc3\u3067\u3059\u3002<\/strong>\u5150\u7ae5\u767a\u9054\u652f\u63f4\u4e8b\u696d\u6240\u3078\u306e\u76f8\u8ac7\u3082\u65e9\u3081\u306b\u691c\u8a0e\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\"><\/span>\u5f15\u7528\u6587\u732e\uff5cReferences<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK114806\/\" target=\"_blank\" rel=\"noopener\">Campeau PM, Lu JT, Dawson BC, et al. KAT6B Disorders. 2012 Dec 13 [updated 2020 Jan 2]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026.<\/a><\/li>\n\n\n<li><a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/16618\/blepharophimosis-intellectual-disability-syndrome-sbbys-type\" target=\"_blank\" rel=\"noopener\">Genetic and Rare Diseases Information Center (GARD): Blepharophimosis-intellectual disability syndrome, SBBYS type. National Center for Advancing Translational Sciences, NIH.<\/a><\/li>\n\n\n<li><a href=\"https:\/\/medlineplus.gov\/genetics\/gene\/kat6b\/\" target=\"_blank\" rel=\"noopener\">MedlinePlus Genetics: KAT6B gene. U.S. National Library of Medicine.<\/a><\/li>\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/22077973\/\" target=\"_blank\" rel=\"noopener\">Clayton-Smith J, O&#8217;Sullivan J, Daly S, et al. Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. Am J Hum Genet. 2011;89(5):675-681.<\/a><\/li>\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/350209\" target=\"_blank\" rel=\"noopener\">MedGen: Blepharophimosis &#8211; intellectual disability syndrome, SBBYS type (Concept ID: C1863557). National Center for Biotechnology Information, NIH.<\/a><\/li>\n<\/ul>\n\n\n\n<p><strong>\u76e3\u4fee\uff1a\u5ca1\u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09<\/strong> \uff0f \u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo Director\u3002\u6176\u61c9\u7fa9\u587e\u5927\u5b66\u533b\u5b66\u90e8\u5352\u3002\u65e5\u672c\u306b20\u4eba\u307b\u3069\u3057\u304b\u3044\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3002\u672c\u8a18\u4e8b\u306fGeneReviews\u30fbGARD\u30fbMedlinePlus Genetics\u30fb\u67fb\u8aad\u6e08\u307f\u533b\u5b66\u8ad6\u6587\u306a\u3069\u306e\u516c\u7684\u30fb\u5b66\u8853\u60c5\u5831\u3092\u53c2\u7167\u3057\u3066\u4f5c\u6210\u3057\u3066\u3044\u307e\u3059\u3002\u75c7\u4f8b\u6570\u306e\u5c11\u306a\u3044\u5e0c\u5c11\u75be\u60a3\u306e\u305f\u3081\u3001\u8a18\u8f09\u306e\u983b\u5ea6\u30fb\u7d4c\u904e\u306f\u6587\u732e\u306b\u3088\u308a\u5e45\u304c\u3042\u308a\u307e\u3059\u3002\u8a3a\u65ad\u30fb\u6cbb\u7642\u306e\u6700\u7d42\u5224\u65ad\u306f\u62c5\u5f53\u533b\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\"><\/span>\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>SBBYSS\u75c7\u5019\u7fa4, Say-Barber-Biesecker-Young-Simpson\u75c7\u5019\u7fa4, Ohdo\u75c7\u5019\u7fa4, KAT6B\u907a\u4f1d\u5b50, Genitopatellar\u75c7\u5019\u7fa4, \u65b0\u751f\u7a81\u7136\u5909\u7570, \u9855\u6027\u907a\u4f1d, \u4eee\u9762\u69d8\u9854\u8c8c, \u773c\u77bc\u4e0b\u5782, \u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790, \u767a\u9054\u9045\u6ede, \u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7, \u5e0c\u5c11\u75be\u60a3, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>, \u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3, \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/sup><\/sup><\/p>\n\n\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"WebPage\",\n  \"mainEntity\": {\n    \"@type\": \"MedicalCondition\",\n    \"name\": \"SBBYSS\u75c7\u5019\u7fa4\uff08Say-Barber-Biesecker-Young-Simpson\u75c7\u5019\u7fa4\uff09\",\n    \"alternateName\": \"Ohdo syndrome, SBBYS variant\",\n    \"description\": \"SBBYSS\u75c7\u5019\u7fa4\u306f\u300110\u756a\u67d3\u8272\u4f53\u306eKAT6B\u907a\u4f1d\u5b50\u306e\u65b0\u751f\u7a81\u7136\u5909\u7570\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u3001\u304d\u308f\u3081\u3066\u307e\u308c\u306a\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002\u4eee\u9762\u69d8\u9854\u8c8c\u3001\u773c\u77bc\u4e0b\u5782\u3001\u9577\u3044\u89aa\u6307\u306a\u3069\u304c\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002\",\n    \"cause\": {\n      \"@type\": \"MedicalCause\",\n      \"name\": \"KAT6B\u907a\u4f1d\u5b50\u306e\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09\"\n    },\n    \"possibleTreatment\": [\n      {\n        \"@type\": \"MedicalTherapy\",\n        \"name\": \"\u773c\u77bc\u4e0b\u5782\u306b\u5bfe\u3059\u308b\u773c\u79d1\u624b\u8853\"\n      },\n      {\n        \"@type\": \"MedicalTherapy\",\n        \"name\": \"\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u7642\u6cd5\"\n      },\n      {\n        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