{"id":5192,"date":"2020-07-28T12:26:00","date_gmt":"2020-07-28T03:26:00","guid":{"rendered":"https:\/\/www2.hiro-clinic.or.jp\/?p=5192"},"modified":"2026-03-05T12:30:14","modified_gmt":"2026-03-05T03:30:14","slug":"sotos-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/sotos-syndrome\/","title":{"rendered":"\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\uff08Sotos\u75c7\u5019\u7fa4\uff09\u306e\u539f\u56e0\u3068\u75c7\u72b6\u3068\u306f\uff1f\u3010\u533b\u5e2b\u76e3\u4fee\u3011"},"content":{"rendered":"\n<!-- <div class=\"toc\">\n\t<ul>\n\t\t<li><a href=\"#c1\">\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306e\u7279\u5fb4<\/a>\n\t\t\t<ul>\n\t\t\t\t<li><a href=\"#c1-1\">\u75ab\u5b66\u7684\u306a\u7279\u5fb4<\/a><\/li>\n\t\t\t\t<li><a href=\"#c1-2\">\u5916\u898b\u7684\u306a\u7279\u5fb4<\/a><\/li>\n\t\t\t<\/ul>\n\t\t<\/li>\n\t\t<li><a href=\"#c2\">\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306e\u75c7\u72b6<\/a>\n\t\t\t<ul>\n\t\t\t\t<li><a 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class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"600\" height=\"400\" src=\"\/nipt\/wp-content\/uploads\/2022\/09\/sotos-syndrome02.jpg\" alt=\"\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\" class=\"wp-image-41786\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\" id=\"c2\"><span class=\"ez-toc-section\" id=\"%E3%82%BD%E3%83%88%E3%82%B9%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span>\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306e\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c2-1\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%B5%8C%E7%9A%84%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span>\u795e\u7d4c\u7684\u306a\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e2d\u67a2\u795e\u7d4c\u7cfb\u75c7\u72b6\u304c\u3088\u304f\u307f\u3089\u308c\u308b\u3053\u3068\u3092\u7279\u5fb4\u3068\u3059\u308b\u75be\u60a3\u3067\u3059\u3002<span class=\"y_marker\">\u767a\u9054\u3001\u6b69\u884c\u3001\u4f1a\u8a71\u3001\u304a\u3088\u3073\u7279\u306b\u767a\u8a71\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u9054\u6210\u306e\u9045\u308c\u304c\u307b\u307c\u5e38\u306b\u307f\u3089\u308c\u3001\u3055\u3089\u306b\u4e0d\u5668\u7528\u3055\u304c\u983b\u7e41\u306b\u307f\u3089\u308c\uff0860~80%\uff09\u3001\u540c\u69d8\u306b\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff09\u304a\u3088\u3073\u95a2\u7bc0\u5f1b\u7de9\u3082\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/span><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306f\u60a3\u8005\u306e80~85%\u306b\u307f\u3089\u308c\u3001\u5e73\u5747IQ\u306f72\u3067\u300140\u304b\u3089\u5883\u754c\u57df\u306e\u8efd\u5ea6<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u300215~20%\u306e\u60a3\u8005\u3067\u77e5\u80fd\u306f\u6b63\u5e38\u3067\u3042\u308b\u3002\u307e\u305f\u3001\u75d9\u6523\u767a\u4f5c\u306f\u7f79\u60a3\u8005\u306e30%\u306b\u8d77\u3053\u308a\u3046\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c2-2\"><span class=\"ez-toc-section\" id=\"%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E9%83%A8%E4%BD%8D%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span>\u305d\u306e\u4ed6\u306e\u90e8\u4f4d\u306e\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u65b0\u751f\u5150\u306b\u306f\u3001\u3057\u3070\u3057\u3070\u9ec4\u75b8\u3001\u54fa\u4e73\u56f0\u96e3\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<span class=\"y_marker\">\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306e\u5c0f\u5150\u306e\u7d048~35%\u306b\u5fc3\u81d3\u306e\u7570\u5e38\u304c\u307f\u3089\u308c\u307e\u3059\u304c\u3001\u901a\u5e38\u306f\u91cd\u75c7\u3067\u306f\u306a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u6027\u5668\u3001\u6ccc\u5c3f\u5668\u7cfb\u306e\u4e21\u65b9\u307e\u305f\u306f\u3069\u3061\u3089\u304b\u306e\u7570\u5e38\u304c\u60a3\u8005\u306e\u7d0420%\u306b\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/span>\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306b\u95a2\u9023\u3059\u308b\u305d\u306e\u4ed6\u306e\u6240\u898b\u306b\u306f\u3001\u4e0a\u6c17\u9053\u611f\u67d3\u75c7\u306e\u983b\u5ea6\u5897\u52a0\u306b\u95a2\u9023\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u4f1d\u97f3\u96e3\u8074\u3001\u659c\u8996\u306a\u3069\u306e\u773c\u7570\u5e38\u3001\u9aa8\u683c\u7570\u5e38\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002\u810a\u690e\u306e\u5f2f\u66f2\uff08\u810a\u67f1\u5074\u5f2f\u75c7\uff09\u304c\u60a3\u8005\u306e\u7d0440%\u306b\u307f\u3089\u308c\u307e\u3059\u304c\u3001\u901a\u5e38\u306f\u88c5\u5177\u3084\u624b\u8853\u3092\u5fc5\u8981\u3068\u3059\u308b\u307b\u3069\u91cd\u5ea6\u3067\u306f\u306a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u60a3\u8005\u306e\u7d042.2~3.9%\u304c\u4ed9\u5c3e\u90e8\u5947\u5f62\u816b\u3001\u795e\u7d4c\u82bd\u816b\u3001\u4ed9\u9aa8\u524d\u795e\u7d4c\u7bc0\u816b\u304a\u3088\u3073\u6025\u6027\u30ea\u30f3\u30d1\u82bd\u7403\u6027\u767d\u8840\u75c5\u306a\u3069\u306e\u816b\u760d\u3092\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7f79\u60a3\u3057\u305f\u4e73\u5150\u304a\u3088\u3073\u5c0f\u5150\u306f\u901a\u5e38\u3001\u7279\u5b9a\u306e\u767a\u9054\u4e0a\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\uff08\u4f8b:\u5ea7\u308b\u3001\u9019\u3046\u3001\u6b69\u304f\u306a\u3069\uff09\u306e\u9054\u6210\u304c\u9045\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001\u751f\u5f8c\u7d0415~17\u30ab\u6708\u306b\u306a\u308b\u307e\u3067\u6b69\u884c\u304c\u59cb\u307e\u3089\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u60a3\u5150\u306f\u3001\u5354\u8abf\u904b\u52d5\uff08\u4f8b\u3048\u3070\u3001\u81ea\u8ee2\u8eca\u306b\u4e57\u3063\u305f\u308a\u3001\u30b9\u30dd\u30fc\u30c4\u3092\u3057\u305f\u308a\u3059\u308b\uff09\u3001\u5fae\u7d30\u904b\u52d5\u80fd\u529b\uff08\u4f8b\u3048\u3070\u3001\u5c0f\u3055\u306a\u7269\u4f53\u3092\u3064\u304b\u3080\u80fd\u529b\uff09\u3092\u5fc5\u8981\u3068\u3059\u308b\u7279\u5b9a\u306e\u8ab2\u984c\u306e\u9042\u884c\u304c\u56f0\u96e3\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u7570\u5e38\u306a\u904b\u52d5\u969c\u5bb3\u3092\u793a\u3059\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u5178\u578b\u7684\u306b\u306f\u8a00\u8a9e\u80fd\u529b\u306e\u7372\u5f97\u306b\u9045\u308c\u304c\u307f\u3089\u308c\u3001\u591a\u304f\u306e\u5834\u5408\u3001<span class=\"y_marker\">\u767a\u75c7\u3057\u305f\u5c0f\u5150\u306f2~3\u6b73\u9803\u306b\u306a\u308b\u307e\u3067\u8a71\u3059\u3053\u3068\u304c\u3067\u304d\u306a\u3044<\/span>\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n    <a href=\"\/nipt\/mosaicism\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30e2\u30b6\u30a4\u30af\u3068\u306f\uff1f\u8d77\u3053\u308a\u3046\u308b\u3053\u3068\u3068NIPT\u306b\u304a\u3051\u308b\u6ce8\u610f\u70b9\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u300c\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad(NIPT)\u300d\u306f\u80ce\u5150\u306e\u67d3\u8272\u4f53\u306e\u7570\u5e38\u3092\u660e\u3089\u304b\u306b\u3059\u308b\u691c\u67fb\u3067\u3059\u3002\u3057\u304b\u3057\u3001NIPT\u306e\u691c\u67fb\u3082100%\u6b63\u3057\u3044\u7d50\u679c\u304c\u5f97\u3089\u308c\u308b\u3068\u306f\u9650\u308a\u307e\u305b\u3093...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c3\"><span class=\"ez-toc-section\" id=\"%E3%82%BD%E3%83%88%E3%82%B9%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AE%E5%8E%9F%E5%9B%A0\"><\/span>\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306e\u539f\u56e0<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306f\u3001NSD1\uff08\u6838\u5185\u53d7\u5bb9\u4f53\u7d50\u5408SET\u30c9\u30e1\u30a4\u30f3\u30bf\u30f3\u30d1\u30af\u8cea1\uff09\u907a\u4f1d\u5b50\u306e\u5909\u7570\uff08\u7570\u5e38\uff09\u304c\u539f\u56e0\u3067\u767a\u751f\u3059\u308b\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u60a3\u8005\u306e\u7d0490%\u3067\u540c\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3068\u306a\u308bNSD1\u5909\u7570\u306e\u540c\u5b9a\u306f\u3001\u65e5\u672c\u4eba\u96c6\u56e3\u306b\u304a\u3044\u3066\u6700\u521d\u306b\u78ba\u7acb\u3055\u308c\u3001NSD1\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u30bd\u30c8\u30b9 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id=\"%E3%82%BD%E3%83%88%E3%82%B9%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AE%E8%A8%BA%E6%96%AD\"><\/span>\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306e\u751f\u5316\u5b66\u7684\u30de\u30fc\u30ab\u30fc\u306f\u672a\u3060\u898b\u3064\u304b\u3063\u3066\u3044\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u3001\u8a3a\u65ad\u306f\u81e8\u5e8a\u7684\u6839\u62e0\u306b\u57fa\u3065\u3044\u3066\u4e0b\u3055\u308c\u307e\u3059\u3002\u6700\u3082\u7279\u5fb4\u7684\u306a\u81e8\u5e8a\u50cf\u306f\u3001<span class=\"y_marker\">\u982d\u84cb\u9854\u9762\u306e\u5f62\u614b\u3001\u904e\u5270\u306a\u6210\u9577\u3001\u304a\u3088\u3073\u767a\u9054\u9045\u6ede\u3067\u3042\u308b<\/span>\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u982d\u84cb\u9854\u9762\u306e\u5f62\u614b\u304c\u6700\u3082\u7279\u5fb4\u7684\u3067\u3042\u308a\u3001\u307e\u308c\u306b\uff08\u7d041%\uff09\u5b58\u5728\u3057\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u5c0f\u5150\u304a\u3088\u3073\u9752\u5e74\u306e\u8eab\u9577\u306f\u3001\u904e\u5ea6\u306b\u5927\u304d\u304f\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u3001\u60a3\u8005\u306e10-15%\u306f\u767a\u9054\u9045\u6ede\u304c\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u60a3\u8005\u306e76~86%\u306b\u9aa8\u5e74\u9f62\u306e\u9032\u884c\u304c\u307f\u3089\u308c\u307e\u3059\u304c\u3001\u6709\u7528\u3067\u3042\u308b\u304c\u7279\u7570\u7684\u3067\u306f\u306a\u3044\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002\u3055\u3089\u306b\u8133\u306e\u7570\u5e38\u3068\u3057\u3066\u3001\u6c34\u982d\u75c7\u306a\u3069\u304c\u60a3\u8005\u306e60~80%\u306b\u307f\u3089\u308c\u308b\u304c\u3001\u8a3a\u65ad\u3068\u3057\u3066\u5229\u7528\u3055\u308c\u308b\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u975e\u7279\u7570\u7684\u3067\u3042\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u8a3a\u65ad\u306f\u3001\u5168\u5e38\u67d3\u8272\u4f53\u5168\u9818\u57df<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u3092\u691c\u51fa\u3059\u308bFISH\uff08\u86cd\u5149insitu\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff09\u5206\u6790\u307e\u305f\u306fMLPA\uff08\u591a\u91cd\u30e9\u30a4\u30b2\u30fc\u30b7\u30e7\u30f3\u4f9d\u5b58\u6027\u30d7\u30ed\u30fc\u30d6\u5897\u5e45\uff09\u3092\u5229\u7528\u3057\u305f\u3001\u67d3\u8272\u4f535q35\u306b\u304a\u3051\u308b\u5168\u5e38\u67d3\u8272\u4f53\u5168\u9818\u57df<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u304a\u3088\u3073\u90e8\u5206\u7684NSD1\u907a\u4f1d\u5b50\u6b20\u5931\u3092\u691c\u51fa\u3059\u308b\u7c21\u4fbf\u3067\u4fe1\u983c\u6027\u306e\u9ad8\u3044\u65b9\u6cd5\u306b\u3088\u308a\u5b9f\u65bd\u3055\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u30b2\u30ce\u30e0\u914d\u5217\u6c7a\u5b9a\u306b\u3088\u308bDNA\u89e3\u6790\u306f\u3001\u7279\u7570\u7684NSD1\u907a\u4f1d\u5b50\u5909\u7570\u3092\u6c7a\u5b9a\u3067\u304d\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u524d\u8ff0\u306e\u901a\u308a\u3001NSD1\u907a\u4f1d\u5b50\u5909\u7570\u306e\u306a\u3044\u60a3\u8005\u3067\u306f\u3001NFIX\u304a\u3088\u3073APC2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u95a2\u3059\u308b\u907a\u4f1d\u5b50\u691c\u67fb\u3082\u884c\u3046\u5fc5\u8981\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n    <a href=\"\/nipt\/wolf-hirschhorn\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30a6\u30a9\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7\u5019\u7fa4\u3068\u306f\uff1f\u7279\u5fb4\u3084\u539f\u56e0\u3001\u75c7\u72b6\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">4\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306b\u4f4d\u7f6e\u3059\u308b\u907a\u4f1d\u5b50\u7fa4\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u75be\u60a3\u300c4p\u6b20\u5931\u75c7\u5019\u7fa4\u300d(\u30a6\u30a9\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7\u5019\u7fa4)\u3002\u56fd\u306e\u6307\u5b9a\u96e3\u75c5\u306b\u8a8d\u3081\u3089...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c5\"><span class=\"ez-toc-section\" id=\"%E6%97%A5%E6%9C%AC%E3%81%AB%E3%81%8A%E3%81%91%E3%82%8B%E3%82%BD%E3%83%88%E3%82%B9%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AE%E8%A8%BA%E6%96%AD%E5%9F%BA%E6%BA%96%E6%97%A5%E6%9C%AC\"><\/span>\u65e5\u672c\u306b\u304a\u3051\u308b\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u57fa\u6e96\u65e5\u672c<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u4ee5\u4e0b\u306b\u793a\u3059\u4e3b\u8981\u306a\u81e8\u5e8a\u75c7\u72b6\u306e\uff11\uff5e\uff13\u3092\u6709\u3057\u3001\u539f\u56e0\u907a\u4f1d\u5b50\uff08NSD1\u907a\u4f1d\u5b50\u7b49\uff09\u306b\u70b9\u5909\u7570\u3092\u8a8d\u3081\u308b\u304b\u3001NSD1\u3092\u542b\u3080\uff15\u756a\u67d3\u8272\u4f53\u9577\u8155\u306b\u6b20\u5931\u3092\u8a8d\u3081\u308b\u5834\u5408\u306b\u3001\u8a3a\u65ad\u304c\u78ba\u5b9a\u3057\u307e\u3059\u3002\u524d\u8ff0\u306e\u901a\u308a\u3001\u5909\u7570\u3084\u6b20\u5931\u3092\u8a8d\u3081\u306a\u3044\u5834\u5408\u3082\u3042\u308a\u3001\u4e0b\u8a18\u306e\u75c7\u72b6\u306e\u3046\u3061\uff11\uff5e\uff14\u3092\u5168\u3066\u6e80\u305f\u3059\u5834\u5408\u306b\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u3068\u81e8\u5e8a\u8a3a\u65ad\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u2160\uff0e\u4e3b\u8981\u81e8\u5e8a\u75c7\u72b6<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\uff11\uff0e\u4e73\u30fb\u5e7c\u5150\u671f\u306e\u5927\u982d\u75c7\uff08\u2267\uff12SD\uff09<\/li>\n\n\n\n<li>\uff12\uff0e\u4e73\u30fb\u5e7c\u5150\u671f\u306e\u904e\u6210\u9577\uff08\u2267\uff12SD\uff09<\/li>\n\n\n\n<li>\uff13\uff0e\u982d\u304c\u5927\u304d\u304f\u9577\u982d\u3001\u5927\u304d\u3044\u624b\u8db3\u3001\u524d\u984d\u30fb\u4e0b\u984e\u306e\u7a81\u51fa\u3001\u9ad8\u53e3\u84cb\u3001\u773c\u77bc\u88c2\u659c\u4e0b\u3001\u773c\u9593\u958b\u96e2\u3092\u542b\u3080\u7279\u5fb4\u7684\u306a\u5916\u898b<\/li>\n\n\n\n<li>\uff14\uff0e\u7cbe\u795e\u767a\u9054\u9045\u6ede<\/li>\n<\/ul>\n\n\n\n<p>\u203bSD(Standard Deviation)\u306f\u6a19\u6e96\u504f\u5dee\u306e\u7565\u3067\u30012SD\u306f\u5e73\u5747\u5024\u304b\u3089\u524d\u5f8c\u3057\u3066\u7d0495%\u306e\u30c7\u30fc\u30bf\u304c\u542b\u307e\u308c\u308b\u7bc4\u56f2\u3092\u793a\u3057\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"600\" height=\"400\" src=\"\/nipt\/wp-content\/uploads\/2022\/09\/sotos-syndrome02-1.jpg\" alt=\"\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306e\u539f\u56e0\" class=\"wp-image-41793\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\" id=\"c6\"><span class=\"ez-toc-section\" id=\"%E5%9B%BD%E5%86%85%E3%81%AB%E3%81%8A%E3%81%91%E3%82%8B%E3%82%BD%E3%83%88%E3%82%B9%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AE%E9%87%8D%E7%97%87%E5%BA%A6%E5%88%86%E9%A1%9E\"><\/span>\u56fd\u5185\u306b\u304a\u3051\u308b\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306e\u91cd\u75c7\u5ea6\u5206\u985e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u91cd\u75c7\u5ea6\u306f\u3001\u4ee5\u4e0b\u306e\u57fa\u6e96\u306b\u6cbf\u3063\u3066\u5206\u985e\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\uff11\uff0e\u5c0f\u5150\u4f8b\uff0818\u6b73\u672a\u6e80\uff09<\/p>\n\n\n\n<p>\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u306b\u304a\u3051\u308b\u72b6\u614b\u306e\u7a0b\u5ea6\u306b\u6e96\u305a\u308b\u3002<\/p>\n\n\n\n<p>&nbsp;\uff12\uff0e\u6210\u4eba\u4f8b<\/p>\n\n\n\n<p>\u4ee5\u4e0b\u306e\uff11\uff09\uff5e\uff14\uff09\u306e\u3044\u305a\u308c\u304b\u306b\u8a72\u5f53\u3059\u308b\u8005\u3092\u5bfe\u8c61\u3068\u3059\u308b\u3002<\/p>\n\n\n\n<p>\uff11\uff09\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u306e\u5834\u5408\uff1a\u4e3b\u306a\u6297\u3066\u3093\u304b\u3093\u85ac\uff12\uff5e\uff13\u7a2e\u985e\u4ee5\u4e0a\u306e\u5358\u5264\u3042\u308b\u3044\u306f\u591a\u5264\u4f75\u7528\u3067\u3001\u304b\u3064\u5341\u5206\u91cf\u3067\u3001\uff12\u5e74\u4ee5\u4e0a\u6cbb\u7642\u3057\u3066\u3082\u3001\u767a\u4f5c\u304c\uff11\u5e74\u4ee5\u4e0a\u6291\u5236\u3055\u308c\u305a\u65e5\u5e38\u751f\u6d3b\u306b\u652f\u969c\u3092\u6765\u3059\u72b6\u614b\uff08\u65e5\u672c\u795e\u7d4c\u5b66\u4f1a\u306b\u3088\u308b\u5b9a\u7fa9\uff09\u3002<\/p>\n\n\n\n<p>\uff12\uff09\u5148\u5929\u6027\u5fc3\u75be\u60a3\u304c\u3042\u308a\u3001\u85ac\u7269\u6cbb\u7642\u30fb\u624b\u8853\u306b\u3088\u3063\u3066\u3082NYHA\u5206\u985e\u3067II\u5ea6\u4ee5\u4e0a\u306b\u8a72\u5f53\u3059\u308b\u5834\u5408\u3002\u4f8b\uff1bII\u5ea6\uff08II\u5ea6\uff1b\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u8eab\u4f53\u6d3b\u52d5\u306e\u5236\u9650\u304c\u3042\u308b\u3002\u5b89\u9759\u6642\u53c8\u306f\u8efd\u52b4\u4f5c\u6642\u306b\u306f\u7121\u75c7\u72b6\u3002\u65e5\u5e38\u52b4\u4f5c\u306e\u3046\u3061\u3001\u6bd4\u8f03\u7684\u5f37\u3044\u52b4\u4f5c\uff08\u4f8b\u3048\u3070\u3001\u968e\u6bb5\u4e0a\u6607\u3001\u5742\u9053\u6b69\u884c\u306a\u3069\uff09\u3067\u75b2\u52b4\u3001\u52d5\u60b8\u3001\u547c\u5438\u56f0\u96e3\u3001\u5931\u795e\u3042\u308b\u3044\u306f\u72ed\u5fc3\u75db\uff08\u80f8\u75db\uff09\u3092\u751f\u305a\u308b 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