{"id":83567,"date":"2024-11-15T15:15:23","date_gmt":"2024-11-15T06:15:23","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83567"},"modified":"2025-08-21T12:46:47","modified_gmt":"2025-08-21T03:46:47","slug":"14q11-q22-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q11-q22-deletion-syndrome\/","title":{"rendered":"14q11-q22 \u6b20\u5931\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p>\u672c\u8a18\u4e8b\u3067\u306f\u3001\u30b6\u30d2\u30eb\u30fb\u30d5\u30ea\u30fc\u30c9\u30de\u30f3\u75c7\u5019\u7fa4\uff08Zahir-Friedman Syndrome, 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id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" 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class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q11-q22-deletion-syndrome\/#%E7%AE%A1%E7%90%86%E6%96%B9%E6%B3%95%E3%81%A8%E5%B0%86%E6%9D%A5%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97\" >\u7ba1\u7406\u65b9\u6cd5\u3068\u5c06\u6765\u306e\u898b\u901a\u3057<\/a><\/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\/14q11-q22-deletion-syndrome\/#%E7%97%85%E5%9B%A0%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%AE%E6%96%B9%E6%B3%95\" >\u75c5\u56e0\u3068\u8a3a\u65ad\u306e\u65b9\u6cd5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q11-q22-deletion-syndrome\/#%E3%82%82%E3%81%A3%E3%81%A8%E7%9F%A5%E3%82%8A%E3%81%9F%E3%81%84%E6%96%B9%E3%81%B8\" >\u3082\u3063\u3068\u77e5\u308a\u305f\u3044\u65b9\u3078<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link 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class=\"wp-image-92576\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30b6\u30d2\u30fc\u30eb\u30fb\u30d5\u30ea\u30fc\u30c9\u30de\u30f3\u75c7\u5019\u7fa4\uff08Zahir-Friedman\u75c7\u5019\u7fa4\uff09\u306f\u300114q11-q22\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u3082\u547c\u3070\u308c\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3001\u67d3\u8272\u4f5314\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u795e\u7d4c\u7cfb\u306e\u50cd\u304d\u3084\u8eab\u4f53\u306e\u6210\u9577\u3001\u9854\u3084\u9aa8\u683c\u306e\u5f62\u6210\u306a\u3069\u3001\u5e45\u5e83\u3044\u9818\u57df\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u3084\u91cd\u75c7\u5ea6\u306f\u500b\u4eba\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u3044\u304f\u3064\u304b\u306e\u5171\u901a\u3057\u305f\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306e\u6700\u3082\u4e00\u822c\u7684\u306a\u7279\u5fb4\u306e\u4e00\u3064\u304c\u767a\u9054\u306e\u9045\u308c\u3067\u3059\u3002<a 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\u7b4b\u8089\u306e\u7dca\u5f35\u304c\u4f4e\u3044\uff08\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff09\u305f\u3081\u306b\u904b\u52d5\u767a\u9054\u304c\u9045\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u982d\u56f2\u304c\u5c0f\u3055\u3044\uff08\u5c0f\u982d\u75c7\uff09\u3053\u3068\u3082\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u8133\u306e\u753b\u50cf\u691c\u67fb\u3067\u306f\u3001\u5de6\u53f3\u306e\u5927\u8133\u534a\u7403\u3092\u3064\u306a\u3050\u300c\u8133\u6881\uff08\u306e\u3046\u308a\u3087\u3046\uff09\u300d\u306b\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u672a\u767a\u9054\uff08\u4f4e\u5f62\u6210\uff09\u3084\u4e00\u90e8\u6b20\u640d\uff08\u7121\u5f62\u6210\uff09\u304c\u78ba\u8a8d\u3055\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/28793493_s.jpg\" alt=\"\u5b50\u4f9b\u3092\u62b1\u3044\u3066\u3044\u308b\u5973\u6027\" class=\"wp-image-88004\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u9854\u7acb\u3061\u306b\u306f\u7279\u5fb4\u7684\u306a\u5909\u5316\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff08\u773c\u9593\u958b\u96e2\uff09\u3001\u9f3b\u306e\u4ed8\u3051\u6839\u304c\u5e45\u5e83\u304f\u5e73\u5766\u3001\u9f3b\u304c\u77ed\u3044\u3001\u9f3b\u3068\u4e0a\u5507\u306e\u9593\u306e\u6e9d\uff08\u4eba\u4e2d\uff09\u304c\u9577\u3044\u3001\u5c0f\u3055\u3044\u53e3\u3001\u4e0a\u5507\u304c\u5f13\u5f62\u306b\u5f37\u8abf\u3055\u308c\u308b\u306a\u3069\u306e\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u9854\u304c\u4e09\u89d2\u5f62\u306b\u898b\u3048\u308b\u3001\u984d\u304c\u7a81\u51fa\u3057\u3066\u3044\u308b\uff08\u524d\u982d\u7a81\u51fa\uff09\u3001\u76ee\u982d\u306b\u76ae\u819a\u306e\u3072\u3060\uff08\u5185\u773c\u89d2\u8d05\u76ae\uff09\u304c\u3042\u308b\u3001\u76ee\u5c3b\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\uff08\u773c\u88c2\u659c\u4e0b\uff09\u3001\u8033\u306e\u5f62\u304c\u901a\u5e38\u3068\u7570\u306a\u308b\u3001\u5507\u304c\u539a\u3044\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u76ee\u306e\u52d5\u304d\u306b\u7570\u5e38\u304c\u3042\u308a\u3001\u76ee\u304c\u5185\u5074\u306b\u5bc4\u308b\uff08\u5185\u659c\u8996\uff09\u3084\u3001\u773c\u7403\u304c\u4e0d\u968f\u610f\u306b\u52d5\u304f\uff08\u773c\u632f\uff09\u3001\u7279\u306b\u4e0a\u4e0b\u306b\u63fa\u308c\u308b\uff08\u5782\u76f4\u773c\u632f\uff09\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7b4b\u9aa8\u683c\u7cfb\u306b\u3082\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u56db\u80a2\u306e\u7b4b\u8089\u304c\u786c\u76f4\u3057\u529b\u304c\u5165\u308a\u306b\u304f\u3044\uff08\u75d9\u6027\u56db\u80a2\u9ebb\u75fa\uff09\u3001\u95a2\u7bc0\u304c\u56fa\u307e\u308a\u52d5\u304b\u3057\u306b\u304f\u304f\u306a\u308b\uff08\u95a2\u7bc0\u62d8\u7e2e\uff09\u3001\u80a1\u95a2\u7bc0\u304c\u4e0d\u5b89\u5b9a\u3067\u8131\u81fc\u3057\u3084\u3059\u3044\uff08\u80a1\u95a2\u7bc0\u4e9c\u8131\u81fc\uff09\u306a\u3069\u306e\u75c7\u72b6\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u4e0a\u8155\u304c\u77ed\u3044\uff08\u8fd1\u4f4d\u80a2\u77ed\u7e2e\uff09\u3001\u6307\u304c\u8efd\u5ea6\u306b\u304f\u3063\u3064\u3044\u3066\u3044\u308b\uff08\u5408\u6307\u75c7\uff09\u3001\u9996\u304c\u77ed\u3044\u3001\u307e\u305f\u306f\u76ae\u819a\u304c\u3064\u306a\u304c\u3063\u3066\u3044\u308b\uff08\u7ffc\u72b6\u9838\uff09\u3068\u3044\u3063\u305f\u7279\u5fb4\u3082\u898b\u3089\u308c\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u9854\u3084\u80f8\u306e\u7247\u5074\u304c\u3084\u3084\u672a\u767a\u9054\uff08\u7247\u5074\u4f4e\u5f62\u6210\uff09\u3067\u3042\u308b\u5834\u5408\u3084\u3001\u89aa\u6307\u306e\u4f4d\u7f6e\u304c\u901a\u5e38\u3088\u308a\u3082\u4f4e\u3044\uff08\u4f4e\u4f4d\u4ed8\u7740\u89aa\u6307\uff09\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30b6\u30d2\u30fc\u30eb\u30fb\u30d5\u30ea\u30fc\u30c9\u30de\u30f3\u75c7\u5019\u7fa4\u306f\u3001\u9aa8\u683c\u3084\u795e\u7d4c\u7cfb\u3060\u3051\u3067\u306a\u304f\u3001\u4f53\u306e\u3055\u307e\u3056\u307e\u306a\u81d3\u5668\u306b\u3082\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5fc3\u81d3\u306e\u5148\u5929\u6027\u75be\u60a3\u3068\u3057\u3066\u3001\u5fc3\u5ba4\u306e\u58c1\u306b\u7a74\u304c\u958b\u304f\u300c\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\u300d\u3001\u51fa\u751f\u5f8c\u306b\u9589\u3058\u308b\u3079\u304d\u8840\u7ba1\u304c\u958b\u3044\u305f\u307e\u307e\u306b\u306a\u308b\u300c\u52d5\u8108\u7ba1\u958b\u5b58\u75c7\u300d\u3001\u5fc3\u623f\u306e\u9593\u306e\u7a74\u304c\u9589\u3058\u306a\u3044\u300c\u5375\u5186\u5b54\u958b\u5b58\u300d\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6d88\u5316\u5668\u7cfb\u306e\u554f\u984c\u3082\u591a\u304f\u3001\u6442\u98df\u969c\u5bb3\u306b\u3088\u308a\u5341\u5206\u306a\u6804\u990a\u3092\u6442\u53d6\u3067\u304d\u305a\u3001\u7d4c\u7ba1\u6804\u990a\u304c\u5fc5\u8981\u306b\u306a\u308b\u30b1\u30fc\u30b9\u3084\u3001\u6210\u9577\u4e0d\u826f\u3001\u6162\u6027\u7684\u306a\u4fbf\u79d8\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/rubinstein-taybi-syndrome-crebbp\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">Rubinstein-Taybi \u75c7\u5019\u7fa4 (CREBBP\u907a\u4f1d\u5b50) <\/div>\n          <div class=\"blog-card-excerpt\">\u30eb\u30fc\u30d3\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30c6\u30a4\u30d3\u30fc\u75c7\u5019\u7fa41\u578b\uff08RSTS1\uff09\u306f\u3001\u77e5\u7684\u969c\u5bb3\u3084\u6210\u9577\u969c\u5bb3\u3001\u7279\u5fb4\u7684\u306a\u9854\u306e\u7279\u5fb4\u3092\u4f34\u3046\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u65b9\u6cd5\u3001...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31141450_s.jpg\" alt=\"\u30de\u30b9\u30af\" class=\"wp-image-91749\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u307e\u305f\u3001\u5185\u5206\u6ccc\u7cfb\u3084\u514d\u75ab\u7cfb\u306b\u3082\u7570\u5e38\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6210\u9577\u30db\u30eb\u30e2\u30f3\u306e\u5206\u6ccc\u304c\u4e0d\u8db3\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u307b\u304b\u3001\u901a\u5e38\u3088\u308a\u3082\u65e9\u304f\u601d\u6625\u671f\u304c\u59cb\u307e\u308b\uff08\u601d\u6625\u671f\u65e9\u767a\u75c7\uff09\u30b1\u30fc\u30b9\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u514d\u75ab\u6a5f\u80fd\u306b\u7570\u5e38\u304c\u3042\u308b\u5834\u5408\u3001\u611f\u67d3\u75c7\u306b\u304b\u304b\u308a\u3084\u3059\u304f\u306a\u308b\u300c\u4e00\u822c\u53ef\u5909\u514d\u75ab\u4e0d\u5168\uff08CVID\uff1aCommon Variable Immunodeficiency\uff09\u300d\u304c\u767a\u75c7\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u795e\u7d4c\u7cfb\u306e\u75c7\u72b6\u306f\u767a\u9054\u9045\u5ef6\u306b\u3068\u3069\u307e\u3089\u305a\u3001\u3066\u3093\u304b\u3093\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u767a\u4f5c\u306e\u7a2e\u985e\u3068\u3057\u3066\u306f\u3001\u610f\u8b58\u3092\u5931\u308f\u305a\u306b\u7279\u5b9a\u306e\u90e8\u4f4d\u304c\u767a\u4f5c\u3092\u8d77\u3053\u3059\u300c\u8907\u96d1\u90e8\u5206\u767a\u4f5c\u300d\u3001\u7a81\u7136\u7b4b\u8089\u304c\u30d4\u30af\u30c3\u3068\u52d5\u304f\u300c\u30df\u30aa\u30af\u30ed\u30fc\u30cc\u30b9\u767a\u4f5c\u300d\u3001\u4f53\u304c\u5f8c\u65b9\u306b\u5f37\u304f\u53cd\u308b\u300c\u5f8c\u5f13\u53cd\u5f35\u300d\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u306e\u7279\u5fb4\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308a\u3001\u4e0d\u5b89\u75c7\u72b6\u3084\u5f37\u8feb\u7684\u306a\u884c\u52d5\u3001\u904b\u52d5\u6a5f\u80fd\u306e\u554f\u984c\u304c\u5e74\u9f62\u3068\u3068\u3082\u306b\u9855\u8457\u306b\u306a\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u4ed6\u306e\u75c7\u72b6\u3068\u3057\u3066\u3001\u814e\u81d3\u306b\u306e\u3046\u80de\u304c\u3067\u304d\u308b\u3001\u4f53\u5185\u306e\u6c34\u5206\u8abf\u7bc0\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u3044\u300c\u5c3f\u5d29\u75c7\u300d\u3001\u5fc3\u62cd\u30ea\u30ba\u30e0\u306e\u7570\u5e38\uff08\u6d1e\u8abf\u5f8b\u7570\u5e38\uff09\u3001\u4f53\u6e29\u8abf\u7bc0\u304c\u96e3\u3057\u3044\u3001\u983b\u7e41\u306a\u547c\u5438\u5668\u611f\u67d3\u75c7\u3001\u8074\u899a\u969c\u5bb3\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u8996\u899a\u306b\u3082\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3053\u3068\u304c\u3042\u308a\u3001\u8996\u795e\u7d4c\u304c\u5341\u5206\u306b\u767a\u9054\u3057\u306a\u3044\u300c\u8996\u795e\u7d4c\u4f4e\u5f62\u6210\u300d\u306b\u3088\u308a\u3001\u8996\u529b\u4f4e\u4e0b\u3084\u5931\u660e\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\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<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%AE%A1%E7%90%86%E6%96%B9%E6%B3%95%E3%81%A8%E5%B0%86%E6%9D%A5%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97\"><\/span>\u7ba1\u7406\u65b9\u6cd5\u3068\u5c06\u6765\u306e\u898b\u901a\u3057<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30b6\u30d2\u30fc\u30eb\u30fb\u30d5\u30ea\u30fc\u30c9\u30de\u30f3\u75c7\u5019\u7fa4\u306f\u3001\u60a3\u8005\u3054\u3068\u306b\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u3084\u91cd\u75c7\u5ea6\u304c\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u306e\u5171\u901a\u70b9\u3092\u5206\u6790\u3059\u308b\u3053\u3068\u3067\u3001\u3053\u306e\u5e0c\u5c11\u75be\u60a3\u306e\u907a\u4f1d\u7684\u304a\u3088\u3073\u767a\u9054\u7684\u7279\u6027\u3092\u7406\u89e3\u3059\u308b\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002\u3053\u3046\u3057\u305f\u5171\u901a\u70b9\u3092\u628a\u63e1\u3059\u308b\u3053\u3068\u3067\u3001\u65e9\u671f\u767a\u898b\u3084\u9069\u5207\u306a\u5bfe\u5fdc\u304c\u53ef\u80fd\u3068\u306a\u308a\u3001\u500b\u3005\u306e\u60a3\u8005\u306b\u5fdc\u3058\u305f\u533b\u7642\u7684\u304a\u3088\u3073\u751f\u6d3b\u9762\u3067\u306e\u652f\u63f4\u304c\u884c\u3044\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"420\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24564060_s1.jpg\" alt=\"\u624b\u888b\u306a\u306e\u306b\u80f8\u3092\u3055\u308f\u308b\" class=\"wp-image-91736\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u767a\u9054\u3084\u795e\u7d4c\u7cfb\u306e\u75be\u60a3\u3092\u6301\u3064\u60a3\u8005\u306e\u30b1\u30a2\u306b\u306f\u3001\u500b\u5225\u306e\u30cb\u30fc\u30ba\u306b\u5fdc\u3058\u305f\u591a\u5206\u91ce\u306b\u308f\u305f\u308b\u5305\u62ec\u7684\u306a\u652f\u63f4\u304c\u5fc5\u8981\u3067\u3059\u3002\u30b5\u30dd\u30fc\u30c8\u306e\u76ee\u7684\u306f\u3001\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u3001\u6a5f\u80fd\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3057\u3001\u5408\u4f75\u75c7\u306e\u30ea\u30b9\u30af\u3092\u6291\u3048\u308b\u3053\u3068\u306b\u3042\u308a\u307e\u3059\u3002\u4ee5\u4e0b\u3067\u306f\u3001\u4e3b\u306a\u8ab2\u984c\u3068\u63a8\u5968\u3055\u308c\u308b\u8a55\u4fa1\u3001\u6cbb\u7642\u3001\u4ecb\u5165\u65b9\u6cd5\u306b\u3064\u3044\u3066\u8aac\u660e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6210\u9577\u3084\u767a\u9054\u306e\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u306f\u91cd\u8981\u3067\u3042\u308a\u3001\u7279\u306b\u982d\u56f2\u306e\u6e2c\u5b9a\u3092\u5b9a\u671f\u7684\u306b\u884c\u3044\u3088\u3046\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002\u767a\u9054\u306e\u8a55\u4fa1\u3067\u306f\u3001\u8a8d\u77e5\u3001\u8a00\u8a9e\u3001\u9069\u5fdc\u80fd\u529b\u3001\u793e\u4f1a\u6027\u3001\u904b\u52d5\u6a5f\u80fd\u306a\u3069\u3092\u5305\u62ec\u7684\u306b\u691c\u67fb\u3057\u3001\u9045\u308c\u304c\u8a8d\u3081\u3089\u308c\u305f\u5834\u5408\u306b\u306f\u3001\u65e9\u671f\u7642\u80b2\u30d7\u30ed\u30b0\u30e9\u30e0\u3084\u7279\u5225\u652f\u63f4\u6559\u80b2\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u767a\u9054\u5c0f\u5150\u79d1\u533b\u3001\u5fc3\u7406\u58eb\u3001\u8a00\u8a9e\u8074\u899a\u58eb\u306a\u3069\u306e\u5c02\u9580\u5bb6\u3078\u306e\u7d39\u4ecb\u3082\u8003\u616e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/30922599_s.jpg\" alt=\"\u307f\u307f\" class=\"wp-image-90890\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u884c\u52d5\u3084\u7cbe\u795e\u9762\u306e\u554f\u984c\u306b\u5bfe\u3057\u3066\u306f\u3001\u8a73\u7d30\u306a\u554f\u8a3a\u3068\u8a55\u4fa1\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002\u4e00\u822c\u7684\u306a\u554f\u984c\u3068\u3057\u3066\u3001\u7761\u7720\u969c\u5bb3\u3001\u6ce8\u610f\u6b20\u5982\u30fb\u591a\u52d5\u75c7\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09\u3001\u4e0d\u5b89\u969c\u5bb3\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\uff08ASD\uff09\u3092\u793a\u5506\u3059\u308b\u75c7\u72b6\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u306f\u3001\u5fc3\u7406\u58eb\u3084\u7cbe\u795e\u79d1\u533b\u306b\u3088\u308b\u3055\u3089\u306a\u308b\u8a55\u4fa1\u3084\u4ecb\u5165\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u795e\u7d4c\u5b66\u7684\u8a55\u4fa1\u3067\u306f\u3001\u8a73\u7d30\u306a\u75c5\u6b74\u8074\u53d6\u3068\u8a3a\u5bdf\u304c\u5fc5\u8981\u3067\u3059\u3002\u7279\u306b\u3001\u982d\u56f2\u304c\u6b63\u5e38\u7bc4\u56f2\u3092\u5927\u304d\u304f\u8d85\u3048\u3066\u3044\u308b\u5834\u5408\u3084\u6025\u901f\u306b\u5897\u52a0\u3057\u3066\u3044\u308b\u5834\u5408\u3001\u8133\u810a\u9ac4\u6db2\u306e\u6d41\u308c\u304c\u963b\u5bb3\u3055\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u3084\u8133\u5e79\u3078\u306e\u5727\u8feb\u75c7\u72b6\u304c\u3042\u308b\u5834\u5408\u306b\u306f\u3001\u8133MRI\u691c\u67fb\u3092\u63a8\u5968\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u810a\u9ac4\u6a5f\u80fd\u969c\u5bb3\u306e\u5146\u5019\u304c\u3042\u308b\u5834\u5408\u306b\u306f\u3001\u810a\u9ac4MRI\u306e\u5b9f\u65bd\u3082\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002\u767a\u4f5c\u3084\u3066\u3093\u304b\u3093\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u3001\u8133\u6ce2\uff08EEG\uff09\u691c\u67fb\u3092\u884c\u3044\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u795e\u7d4c\u79d1\u533b\u306e\u8a3a\u5bdf\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u671b\u307e\u3057\u3044\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u7761\u7720\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5165\u7720\u56f0\u96e3\u3084\u591c\u9593\u306e\u983b\u7e41\u306a\u899a\u9192\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u3001\u554f\u984c\u304c\u8a8d\u3081\u3089\u308c\u308b\u5834\u5408\u306b\u306f\u3001\u7761\u7720\u30dd\u30ea\u30b0\u30e9\u30d5\u691c\u67fb\uff08PSG\uff09\u3092\u5b9f\u65bd\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u7761\u7720\u5c02\u9580\u533b\u3084\u5fc3\u7406\u58eb\u3078\u306e\u7d39\u4ecb\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/4212020_s.jpg\" alt=\"\u8d64\u3061\u3083\u3093\u3092\u898b\u5b88\u308b\u5973\u6027\" class=\"wp-image-87959\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u6d88\u5316\u5668\u7cfb\u3084\u6442\u98df\u306b\u95a2\u3059\u308b\u554f\u984c\u3068\u3057\u3066\u3001\u4fbf\u79d8\u306a\u3069\u306e\u6d88\u5316\u5668\u75c7\u72b6\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6df1\u523b\u306a\u5834\u5408\u306f\u6d88\u5316\u5668\u5c02\u9580\u533b\u3078\u306e\u7d39\u4ecb\u3092\u8003\u616e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306f\u3001\u533b\u7642\u907a\u4f1d\u5b66\u306e\u5c02\u9580\u5bb6\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306b\u3088\u3063\u3066\u63d0\u4f9b\u3055\u308c\u308b\u3079\u304d\u3067\u3059\u3002\u3053\u306e\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u75be\u60a3\u306e\u7279\u6027\u3001\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u3001\u5c06\u6765\u7684\u306a\u5f71\u97ff\u306b\u3064\u3044\u3066\u6b63\u78ba\u306a\u60c5\u5831\u3092\u5f97\u308b\u3053\u3068\u304c\u3067\u304d\u3001\u533b\u7642\u304a\u3088\u3073\u751f\u6d3b\u4e0a\u306e\u610f\u601d\u6c7a\u5b9a\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5bb6\u65cf\u3084\u5730\u57df\u306e\u652f\u63f4\u306f\u3001\u5168\u4f53\u7684\u306a\u30b1\u30a2\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u4e0a\u3067\u91cd\u8981\u3067\u3059\u3002\u5730\u57df\u306e\u652f\u63f4\u30b5\u30fc\u30d3\u30b9\u3084\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30af\u3001\u5728\u5b85\u770b\u8b77\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u3068\u306a\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u300c\u89aa\u306e\u4f1a\u300d\u306a\u3069\u306e\u652f\u63f4\u30b0\u30eb\u30fc\u30d7\u3092\u6d3b\u7528\u3059\u308b\u3053\u3068\u3082\u3001\u6709\u76ca\u306a\u9078\u629e\u80a2\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u306e\u9045\u308c\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u884c\u52d5\u9762\u3067\u306e\u554f\u984c\u306b\u5bfe\u3059\u308b\u652f\u63f4\u306f\u3001\u500b\u5225\u6559\u80b2\u8a08\u753b\uff08IEP\uff09\u3092\u3082\u3068\u306b\u884c\u308f\u308c\u308b\u3079\u304d\u3067\u3059\u30023\u6b73\u672a\u6e80\u306e\u5b50\u3069\u3082\u306b\u306f\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09\u3001\u6442\u98df\u7642\u6cd5\u306a\u3069\u3092\u542b\u3080\u65e9\u671f\u4ecb\u5165\u30d7\u30ed\u30b0\u30e9\u30e0\u3092\u63a8\u5968\u3057\u307e\u3059\u30023\u301c5\u6b73\u306e\u5b50\u3069\u3082\u306f\u3001\u5730\u57df\u306e\u767a\u9054\u652f\u63f4\u4fdd\u80b2\u30d7\u30ed\u30b0\u30e9\u30e0\u3092\u6d3b\u7528\u3057\u3001\u4f53\u7cfb\u7684\u306a\u5b66\u7fd2\u3068\u6cbb\u7642\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u671b\u307e\u3057\u3044\u3067\u3057\u3087\u3046\u3002IEP\u306f\u6bce\u5e74\u898b\u76f4\u3055\u308c\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u8abf\u6574\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/29479454_s.jpg\" alt=\"\u8d64\u3061\u3083\u3093\u306e\u670d\" class=\"wp-image-90507\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u904b\u52d5\u6a5f\u80fd\u306e\u969c\u5bb3\u306b\u5bfe\u3057\u3066\u306f\u3001\u7406\u5b66\u7642\u6cd5\u306b\u3088\u3063\u3066\u7c97\u5927\u904b\u52d5\u80fd\u529b\u306e\u5411\u4e0a\u3084\u79fb\u52d5\u80fd\u529b\u306e\u5f37\u5316\u3092\u56f3\u308a\u307e\u3059\u3002\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u3001\u8eca\u6905\u5b50\u3001\u6b69\u884c\u5668\u3001\u9069\u5fdc\u578b\u30d9\u30d3\u30fc\u30ab\u30fc\u306a\u3069\u306e\u88dc\u52a9\u5668\u5177\u3092\u5229\u7528\u3059\u308b\u3053\u3068\u3082\u8003\u3048\u3089\u308c\u307e\u3059\u3002\u4f5c\u696d\u7642\u6cd5\u3067\u306f\u3001\u7740\u66ff\u3048\u3084\u8eab\u3060\u3057\u306a\u307f\u3001\u7b46\u8a18\u306a\u3069\u306e\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u3092\u652f\u63f4\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8a9e\u30fb\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u554f\u984c\u306b\u306f\u3001\u8a00\u8a9e\u7642\u6cd5\u304c\u6709\u52b9\u3067\u3059\u3002\u8868\u51fa\u8a00\u8a9e\u304c\u5927\u304d\u304f\u5236\u9650\u3055\u308c\u308b\u5834\u5408\u306f\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u97f3\u58f0\u751f\u6210\u88c5\u7f6e\u306a\u3069\u306e\u62e1\u5927\u30fb\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff08AAC\uff09\u3092\u6d3b\u7528\u3059\u308b\u3053\u3068\u304c\u6709\u76ca\u3067\u3059\u3002AAC\u306e\u4f7f\u7528\u306f\u3001\u767a\u8a71\u306e\u59a8\u3052\u306b\u306a\u308b\u306e\u3067\u306f\u306a\u304f\u3001\u3080\u3057\u308d\u8a00\u8a9e\u767a\u9054\u3092\u4fc3\u9032\u3059\u308b\u52b9\u679c\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u793e\u4f1a\u6027\u3084\u884c\u52d5\u4e0a\u306e\u8ab2\u984c\u306b\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306e\u6cbb\u7642\u306b\u7528\u3044\u3089\u308c\u308b\u5fdc\u7528\u884c\u52d5\u5206\u6790\uff08ABA\uff09\u3084\u81ea\u7136\u767a\u9054\u884c\u52d5\u4ecb\u5165\uff08NDBI\uff09\u3068\u3044\u3063\u305f\u624b\u6cd5\u304c\u5f79\u7acb\u3064\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u884c\u52d5\u7ba1\u7406\u306e\u6226\u7565\u306b\u3064\u3044\u3066\u306f\u3001\u767a\u9054\u5c0f\u5150\u79d1\u533b\u3068\u76f8\u8ac7\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066ADHD\u3084\u4ed6\u306e\u7cbe\u795e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u85ac\u7269\u7642\u6cd5\u3092\u691c\u8a0e\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u653b\u6483\u6027\u3084\u81ea\u50b7\u884c\u52d5\u304c\u5f37\u3044\u5834\u5408\u306f\u3001\u5c0f\u5150\u7cbe\u795e\u79d1\u533b\u3084\u884c\u52d5\u5206\u6790\u306e\u5c02\u9580\u5bb6\u3068\u9023\u643a\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u306e\u7ba1\u7406\u306b\u306f\u3001\u795e\u7d4c\u79d1\u533b\u306e\u6307\u5c0e\u306e\u3082\u3068\u3001\u9069\u5207\u306a\u6297\u3066\u3093\u304b\u3093\u85ac\u3092\u4f7f\u7528\u3057\u307e\u3059\u3002\u672c\u75c7\u5019\u7fa4\u306b\u7279\u5316\u3057\u3066\u6709\u52b9\u3068\u3055\u308c\u308b\u85ac\u5264\u306f\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u65e2\u5b58\u306e\u6cbb\u7642\u6cd5\u306e\u591a\u304f\u304c\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/9q33-3q34-11-microdeletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u65e9\u671f\u4e73\u5150\u3066\u3093\u304b\u3093\u6027\u8133\u75c74\u578b (EIEE4; Early Infantile Epileptic Encephalopathy 4) <\/div>\n          <div class=\"blog-card-excerpt\">STXBP1\u8133\u75c7\uff08\u3066\u3093\u304b\u3093\u3092\u4f34\u3046\uff09\u306f\u3001\u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\u3001\u7672\u7647\u3001\u904b\u52d5\u969c\u5bb3\u306a\u3069\u3001\u591a\u5c90\u306b\u308f\u305f\u308b\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u8a3a\u65ad\u3001\u6cbb\u7642\u6cd5\u3001\u907a\u4f1d\u7684\u80cc\u666f\u306b\u95a2...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/25617060_s.jpg\" alt=\"\u7247\u624b\u3067\u80a9\u307d\u3093\" class=\"wp-image-88173\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30b8\u30b9\u30c8\u30cb\u30a2\uff08\u7b4b\u7dca\u5f35\u7570\u5e38\uff09\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u306f\u3001\u4e00\u822c\u7684\u306a\u795e\u7d4c\u5b66\u7684\u6cbb\u7642\u304c\u9069\u7528\u3055\u308c\u307e\u3059\u3002\u4e00\u90e8\u306e\u5c0f\u5150\u671f\u767a\u75c7\u306e\u9032\u884c\u6027\u30b8\u30b9\u30c8\u30cb\u30a2\u3067\u306f\u3001\u85ac\u7269\u7642\u6cd5\u304c\u7121\u52b9\u306a\u5834\u5408\u306b\u9650\u308a\u3001\u8133\u6df1\u90e8\u523a\u6fc0\u7642\u6cd5\uff08DBS\uff09\u304c\u6709\u52b9\u3067\u3042\u3063\u305f\u3068\u306e\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8133\u5e79\u5727\u8feb\u306b\u3088\u308b\u795e\u7d4c\u75c7\u72b6\u304c\u3042\u308b\u5834\u5408\u3001\u5916\u79d1\u7684\u51e6\u7f6e\u304c\u5fc5\u8981\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5927\u5f8c\u982d\u5b54\u306e\u6e1b\u5727\u624b\u8853\u3084\u7b2c\u4e00\u9838\u690e\u306e\u80cc\u5074\u5f13\u5207\u9664\u304c\u9078\u629e\u80a2\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5168\u8eab\u7ba1\u7406\u3068\u3057\u3066\u3001\u591a\u304f\u306e\u533b\u7642\u6a5f\u95a2\u3078\u306e\u901a\u9662\u3084\u7642\u80b2\u3001\u7279\u6b8a\u6a5f\u5668\u306e\u4f7f\u7528\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30ab\u30fc\u3068\u9023\u643a\u3059\u308b\u3053\u3068\u3067\u5730\u57df\u306e\u652f\u63f4\u30b5\u30fc\u30d3\u30b9\u3084\u4ecb\u8b77\u652f\u63f4\u3092\u53d7\u3051\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u75c7\u4f8b\u3067\u306f\u3001\u7de9\u548c\u30b1\u30a2\u3084\u5728\u5b85\u770b\u8b77\u306e\u5fc5\u8981\u6027\u3092\u5b9a\u671f\u7684\u306b\u8a55\u4fa1\u3059\u308b\u3053\u3068\u3082\u91cd\u8981\u3067\u3059\u3002\u516c\u7684\u652f\u63f4\u30d7\u30ed\u30b0\u30e9\u30e0\u306e\u6d3b\u7528\u3092\u691c\u8a0e\u3059\u308b\u3053\u3068\u3082\u6709\u76ca\u3067\u3057\u3087\u3046\u3002\u9069\u5207\u306a\u8a3a\u65ad\u3068\u4ecb\u5165\u3001\u533b\u7642\u30fb\u6559\u80b2\u30fb\u5730\u57df\u306e\u9023\u643a\u306b\u3088\u308a\u3001\u60a3\u8005\u3068\u5bb6\u65cf\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\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<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%AE%E6%96%B9%E6%B3%95\"><\/span>\u75c5\u56e0\u3068\u8a3a\u65ad\u306e\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Zahir-Friedman\u75c7\u5019\u7fa4\uff08ZFS\uff09\u306f\u3001<strong>CHD8<\/strong>\u907a\u4f1d\u5b50\u3068<strong>SUPT16H<\/strong>\u907a\u4f1d\u5b50\u306e\u4e21\u65b9\u3092\u542b\u3080\u9818\u57df\u304c\u90e8\u5206\u7684\u306b\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u6b20\u5931\u306f\u4eba\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u7bc4\u56f2\u306b\u53ca\u3073\u307e\u3059\u304c\u3001\u3044\u305a\u308c\u306e\u5834\u5408\u3082\u4e21\u907a\u4f1d\u5b50\u3092\u542b\u3080\u91cd\u8981\u306a\u9818\u57df\u304c\u5f71\u97ff\u3092\u53d7\u3051\u307e\u3059\u3002CHD8\u3068SUPT16H\u306e\u6a5f\u80fd\u3092\u7406\u89e3\u3059\u308b\u3053\u3068\u3067\u3001\u305d\u308c\u3089\u306e\u55aa\u5931\u304cZFS\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u4ed5\u7d44\u307f\u304c\u660e\u3089\u304b\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"341\" height=\"318\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/AF-Q9HCK8-F11.png\" alt=\"CHD8 Chromodomain-helicase-DNA-binding protein 8 normalsize\" class=\"wp-image-92593\"\/><\/figure><\/div>\n\n\n<p>CHD8\u907a\u4f1d\u5b50\u306f\u3001\u300c\u30af\u30ed\u30e2\u30c9\u30e1\u30a4\u30f3\u30fb\u30d8\u30ea\u30ab\u30fc\u30bcDNA\u7d50\u5408\u30bf\u30f3\u30d1\u30af\u8cea8\uff08Chromodomain-helicase-DNA-binding protein 8\uff09\u300d\u3092\u30b3\u30fc\u30c9\u3059\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u30af\u30ed\u30de\u30c1\u30f3\uff08DNA\u3068\u30d2\u30b9\u30c8\u30f3\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u7d50\u5408\u3057\u305f\u69cb\u9020\uff09\u306e\u8abf\u6574\u3092\u62c5\u3044\u3001\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u3092\u5236\u5fa1\u3057\u307e\u3059\u3002\u30af\u30ed\u30de\u30c1\u30f3\u306e\u69cb\u9020\u306f\u3001\u7d30\u80de\u304c\u3069\u306e\u907a\u4f1d\u5b50\u3092\u3069\u306e\u3088\u3046\u306b\u8aad\u307f\u53d6\u308a\u3001\u5229\u7528\u3059\u308b\u304b\u3092\u6c7a\u5b9a\u3059\u308b\u305f\u3081\u3001\u7d30\u80de\u6a5f\u80fd\u306e\u7dad\u6301\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002CHD8\u306f\u30af\u30ed\u30de\u30c1\u30f3\u306e\u69cb\u9020\u3092\u5909\u5316\u3055\u305b\u308b\u3053\u3068\u3067\u3001\u907a\u4f1d\u5b50\u306e\u8ee2\u5199\uff08DNA\u304b\u3089RNA\u3078\u306e\u60c5\u5831\u306e\u5199\u3057\u53d6\u308a\uff09\u3092\u8abf\u7bc0\u3057\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001DNA\u3092\u5b89\u5b9a\u5316\u3055\u305b\u308b\u30d2\u30b9\u30c8\u30f3H1\u3092\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u9818\u57df\u306b\u547c\u3073\u5bc4\u305b\u308b\u3053\u3068\u3067\u3001\u907a\u4f1d\u5b50\u306e\u6d3b\u6027\u5316\u3092\u6291\u5236\u3057\u3001\u7d30\u80de\u306e\u6210\u9577\u3084\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u304c\u9069\u5207\u306b\u5236\u5fa1\u3055\u308c\u308b\u3088\u3046\u50cd\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>CHD8\u306f\u795e\u7d4c\u767a\u9054\u306b\u304a\u3044\u3066\u7279\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002\u795e\u7d4c\u7d30\u80de\u306e\u5206\u5316\u3001\u7d30\u80de\u5468\u671f\u306e\u9032\u884c\u3001DNA\u4fee\u5fa9\u3092\u5236\u5fa1\u3059\u308b\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u8abf\u6574\u3057\u3001\u307e\u305f\u9078\u629e\u7684\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\uff08\u4e00\u3064\u306e\u907a\u4f1d\u5b50\u304b\u3089\u7570\u306a\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u5206\u3051\u308b\u4ed5\u7d44\u307f\uff09\u306b\u3082\u95a2\u4e0e\u3059\u308b\u3053\u3068\u3067\u3001\u9069\u5207\u306a\u795e\u7d4c\u56de\u8def\u306e\u5f62\u6210\u3092\u52a9\u3051\u307e\u3059\u3002\u3055\u3089\u306b\u3001CHD8\u306fp53\uff08TP53\uff09\u3068\u547c\u3070\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u6d3b\u6027\u3092\u6291\u5236\u3057\u307e\u3059\u3002p53\u306f\u7d30\u80de\u6b7b\uff08\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\uff09\u3092\u5236\u5fa1\u3059\u308b\u91cd\u8981\u306a\u56e0\u5b50\u3067\u3042\u308a\u3001\u904e\u5270\u306b\u6d3b\u6027\u5316\u3059\u308b\u3068\u6b63\u5e38\u306a\u8133\u306e\u767a\u9054\u304c\u59a8\u3052\u3089\u308c\u308b\u305f\u3081\u3001CHD8\u306f\u305d\u306e\u50cd\u304d\u3092\u9069\u5ea6\u306b\u6291\u3048\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u7d30\u80de\u306e\u6b63\u5e38\u306a\u6210\u9577\u3092\u7dad\u6301\u3057\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001CHD8\u306fWnt\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u3068\u547c\u3070\u308c\u308b\u7d30\u80de\u306e\u6210\u9577\u3084\u5206\u5316\u3092\u8abf\u7bc0\u3059\u308b\u91cd\u8981\u306a\u30b7\u30b0\u30ca\u30eb\u7d4c\u8def\u3092\u6291\u5236\u3059\u308b\u3053\u3068\u3067\u3001\u03b2\u30ab\u30c6\u30cb\u30f3\uff08CTNNB1\uff09\u306e\u6d3b\u6027\u3092\u5236\u5fa1\u3057\u3001Wnt\u30b7\u30b0\u30ca\u30eb\u306e\u904e\u5270\u306a\u6d3b\u6027\u5316\u3092\u9632\u304e\u307e\u3059\u3002\u3055\u3089\u306b\u3001CHD8\u306fCTCF\u3084ZNF143\u3068\u3044\u3063\u305f\u4ed6\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u3068\u76f8\u4e92\u4f5c\u7528\u3057\u3001\u907a\u4f1d\u5b50\u767a\u73fe\u3092\u9577\u671f\u7684\u306b\u8abf\u7bc0\u3059\u308b\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30c3\u30af\u306a\u4fee\u98fe\u306b\u3082\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>CHD8\u306e\u6a5f\u80fd\u304c\u5931\u308f\u308c\u308b\u3068\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u3068\u5927\u982d\u75c7\u3092\u4f34\u3046\u77e5\u7684\u767a\u9054\u969c\u5bb3\uff08Intellectual Developmental Disorder with Autism and Macrocephaly: IDDAM\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u5f62\u5f0f\uff08\u89aa\u304b\u30891\u3064\u306e\u5909\u7570\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3050\u3060\u3051\u3067\u767a\u75c7\u3059\u308b\u907a\u4f1d\u5f62\u5f0f\uff09\u3092\u3068\u308a\u3001\u77e5\u7684\u767a\u9054\u969c\u5bb3\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff08ASD\uff09\u3001\u982d\u56f2\u304c\u5927\u304d\u3044\u5927\u982d\u75c7\u304c\u4e3b\u306a\u7279\u5fb4\u3067\u3059\u3002\u307e\u305f\u3001\u80cc\u304c\u9ad8\u3044\u3001\u6d88\u5316\u5668\u7cfb\u306e\u554f\u984c\u3001\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3001\u7761\u7720\u969c\u5bb3\u3001\u6ce8\u610f\u529b\u306e\u554f\u984c\u306a\u3069\u3082\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002ZFS\u3067\u306fCHD8\u306e\u6b20\u5931\u304c\u3001\u3053\u3046\u3057\u305f\u795e\u7d4c\u767a\u9054\u306e\u7570\u5e38\u306b\u5927\u304d\u304f\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\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<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"328\" height=\"242\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/AF-Q9Y5B9-F1.png\" alt=\"SUPT16H  FACT complex subunit SPT16\" class=\"wp-image-92596\"\/><\/figure><\/div>\n\n\n<p>SUPT16H\u907a\u4f1d\u5b50\u306f\u3001\u300cFACT\u8907\u5408\u4f53\uff08Facilitates Chromatin Transcription: FACT\uff09\u300d\u306e\u4e00\u90e8\u3067\u3042\u308bSPT16\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3059\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002FACT\u8907\u5408\u4f53\u306f\u3001\u30af\u30ed\u30de\u30c1\u30f3\u306e\u69cb\u9020\u3092\u9069\u5207\u306b\u518d\u7de8\u6210\u3059\u308b\u3053\u3068\u3067\u3001\u907a\u4f1d\u5b50\u306e\u8ee2\u5199\u3001DNA\u8907\u88fd\u3001DNA\u4fee\u5fa9\u3068\u3044\u3063\u305f\u91cd\u8981\u306a\u7d30\u80de\u6a5f\u80fd\u3092\u652f\u3048\u3066\u3044\u307e\u3059\u3002\u8ee2\u5199\u306e\u904e\u7a0b\u3067\u306f\u3001FACT\u8907\u5408\u4f53\u306f\u30d2\u30b9\u30c8\u30f3\u30b7\u30e3\u30da\u30ed\u30f3\uff08\u30d2\u30b9\u30c8\u30f3\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u69cb\u9020\u3092\u4e00\u6642\u7684\u306b\u5909\u5316\u3055\u305b\u308b\u50cd\u304d\u3092\u6301\u3064\u56e0\u5b50\uff09\u3068\u3057\u3066\u6a5f\u80fd\u3057\u3001\u30af\u30ed\u30de\u30c1\u30f3\u306e\u57fa\u672c\u5358\u4f4d\u3067\u3042\u308b\u30cc\u30af\u30ec\u30aa\u30bd\u30fc\u30e0\u304b\u3089\u4e00\u90e8\u306e\u30d2\u30b9\u30c8\u30f3\uff08\u7279\u306bH2A-H2B\u4e8c\u91cf\u4f53\uff09\u3092\u4e00\u6642\u7684\u306b\u53d6\u308a\u9664\u304f\u3053\u3068\u3067\u3001RNA\u30dd\u30ea\u30e1\u30e9\u30fc\u30bcII\u304c\u30b9\u30e0\u30fc\u30ba\u306bDNA\u3092\u79fb\u52d5\u3057\u3001\u8ee2\u5199\u3092\u9032\u884c\u3067\u304d\u308b\u3088\u3046\u306b\u3057\u307e\u3059\u3002\u305d\u306e\u5f8c\u3001FACT\u8907\u5408\u4f53\u306f\u30cc\u30af\u30ec\u30aa\u30bd\u30fc\u30e0\u3092\u5143\u306e\u72b6\u614b\u306b\u623b\u3057\u3001\u30af\u30ed\u30de\u30c1\u30f3\u69cb\u9020\u3092\u7dad\u6301\u3059\u308b\u5f79\u5272\u3082\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001FACT\u8907\u5408\u4f53\u306fp53\uff08TP53\uff09\u306e\u4fee\u98fe\u306b\u3082\u95a2\u4e0e\u3057\u3066\u304a\u308a\u3001\u30ab\u30bc\u30a4\u30f3\u30ad\u30ca\u30fc\u30bcII\uff08CK2\uff09\u3068\u306e\u76f8\u4e92\u4f5c\u7528\u3092\u901a\u3058\u3066\u3001\u7d30\u80de\u5468\u671f\u306e\u8abf\u7bc0\u3084\u30b9\u30c8\u30ec\u30b9\u5fdc\u7b54\u306b\u3082\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>SUPT16H\u306e\u907a\u4f1d\u5b50\u5909\u7570\u306f\u3001\u8133\u6881\u5f62\u6210\u7570\u5e38\uff08\u5de6\u53f3\u306e\u5927\u8133\u534a\u7403\u3092\u3064\u306a\u3050\u8133\u6881\u306e\u767a\u9054\u7570\u5e38\uff09\u3084\u305d\u306e\u4ed6\u306e\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3068\u95a2\u9023\u304c\u3042\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u3053\u3068\u304b\u3089\u3001ZFS\u306b\u304a\u3044\u3066\u306fCHD8\u306e\u6b20\u5931\u306b\u52a0\u3048\u3066SUPT16H\u306e\u6b20\u5931\u3082\u3001\u77e5\u7684\u767a\u9054\u3084\u795e\u7d4c\u767a\u9054\u306e\u7570\u5e38\u306b\u5bc4\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\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<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>CHD8\u3068SUPT16H\u306f\u3069\u3061\u3089\u3082\u3001\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u8abf\u7bc0\u3001\u30af\u30ed\u30de\u30c1\u30f3\u306e\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\u3001\u795e\u7d4c\u767a\u9054\u306b\u304a\u3044\u3066\u6975\u3081\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u304c\u540c\u6642\u306b\u6b20\u5931\u3059\u308b\u3068\u3001\u8133\u306e\u6b63\u5e38\u306a\u767a\u9054\u306b\u95a2\u308f\u308b\u591a\u304f\u306e\u751f\u7269\u5b66\u7684\u30d7\u30ed\u30bb\u30b9\u304c\u4e71\u308c\u3001ZFS\u306e\u77e5\u7684\u767a\u9054\u969c\u5bb3\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u95a2\u9023\u306e\u7279\u5fb4\u3001\u305d\u306e\u4ed6\u306e\u767a\u9054\u7684\u306a\u8ab2\u984c\u304c\u751f\u3058\u307e\u3059\u3002ZFS\u306e\u767a\u75c7\u30e1\u30ab\u30cb\u30ba\u30e0\u306b\u3064\u3044\u3066\u306f\u73fe\u5728\u3082\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u73fe\u5728\u306e\u77e5\u898b\u3067\u306f\u3001\u3053\u308c\u30892\u3064\u306e\u907a\u4f1d\u5b50\u304c\u795e\u7d4c\u767a\u9054\u306b\u304a\u3044\u3066\u5bc6\u63a5\u306b\u95a2\u4fc2\u3057\u3066\u304a\u308a\u3001\u305d\u308c\u3089\u306e\u6b20\u5931\u304c\u5e83\u7bc4\u56f2\u306b\u308f\u305f\u308b\u907a\u4f1d\u5b50\u767a\u73fe\u306e\u7570\u5e38\u3084\u795e\u7d4c\u6a5f\u80fd\u306e\u7834\u7dbb\u3092\u5f15\u304d\u8d77\u3053\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%82%E3%81%A3%E3%81%A8%E7%9F%A5%E3%82%8A%E3%81%9F%E3%81%84%E6%96%B9%E3%81%B8\"><\/span>\u3082\u3063\u3068\u77e5\u308a\u305f\u3044\u65b9\u3078<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/rarechromo.org\/media\/information\/Chromosome%2014\/14q11.2%20deletions%20FTNW.pdf\">\u3010\u5199\u771f\u3042\u308a\u30fb\u82f1\u8a9e\u3011\u30e6\u30cb\u30fc\u30af\uff08Unique\uff09\u306b\u3088\u308b\u301014q11.2 deletions\u3011\u306b\u95a2\u3059\u308b\u60c5\u5831\u30b7\u30fc\u30c8<\/a><\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\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<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\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\"><\/span>\u5f15\u7528\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1136\/jmedgenet-2019-106193\">Bina, R., Matalon, D., Fregeau, B., Tarsitano, J. J., Aukrust, I., Houge, G., Bend, R., Warren, H., Stevenson, R. E., Stuurman, K. E., Barkovich, A. J., &amp; Sherr, E. H. (2020). De novo variants in <em>SUPT16H<\/em> cause neurodevelopmental disorders associated with corpus callosum abnormalities. <em>Journal of medical genetics<\/em>, <em>57<\/em>(7), 461\u2013465. https:\/\/doi.org\/10.1136\/jmedgenet-2019-106193<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/ajmg.a.36741\">Prontera, P., Ottaviani, V., Toccaceli, D., Rogaia, D., Ardisia, C., Romani, R., Stangoni, G., Pierini, A., &amp; Donti, E. (2014). Recurrent \u223c100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly. <em>American journal of medical genetics. Part A<\/em>, <em>164A<\/em>(12), 3137\u20133141. https:\/\/doi.org\/10.1002\/ajmg.a.36741<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s10038-019-0561-0\">Yasin, H., Gibson, W. T., Langlois, S., Stowe, R. M., Tsang, E. S., Lee, L., Poon, J., Tran, G., Tyson, C., Wong, C. K., Marra, M. A., Friedman, J. M., &amp; Zahir, F. R. (2019). A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8. <em>Journal of human genetics<\/em>, <em>64<\/em>(4), 271\u2013280. https:\/\/doi.org\/10.1038\/s10038-019-0561-0<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK585456\/\">Mitchel MW, Myers SM, Heidlebaugh AR, et al. CHD8-Related Neurodevelopmental Disorder with Overgrowth. 2022 Oct 27. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK585456\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.omim.org\/entry\/613457\">Online Mendelian Inheritance in Man. (Last updated May 2022 by Hilary J. Vernon). Retreived from https:\/\/www.omim.org\/entry\/613457<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkae974\">Perez, G., Barber, G. P., Benet-Pages, A., Casper, J., Clawson, H., Diekhans, M., Fischer, C., Gonzalez, J. N., Hinrichs, A. S., Lee, C. M., Nassar, L. R., Raney, B. J., Speir, M. L., van Baren, M. J., Vaske, C. J., Haussler, D., Kent, W. J., &amp; Haeussler, M. (2024). The UCSC Genome Browser database: 2025 update. Nucleic Acids Research, gkae974. https:\/\/doi.org\/10.1093\/nar\/gkae974<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkad1049\">Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., Bhurji, S. K., Boddu, S., Branco Lins, P. R., Brooks, L., Budhanuru Ramaraju, S., Campbell, L. I., Carbajo Martinez, M., Charkhchi, M., Chougule, K., \u2026 Yates, A. D. (2024). Ensembl 2024. Nucleic Acids Research, 52(D1), D891\u2013D899. https:\/\/doi.org\/10.1093\/nar\/gkad1049<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.nature.com\/articles\/s41586-021-03819-2\" target=\"_blank\" rel=\"noreferrer noopener\">Jumper, J <em>et al<\/em>. Highly accurate protein structure prediction with AlphaFold. <em>Nature<\/em> (2021)<\/a>.<\/li>\n\n\n\n<li><a href=\"https:\/\/academic.oup.com\/nar\/advance-article\/doi\/10.1093\/nar\/gkab1061\/6430488\" target=\"_blank\" rel=\"noreferrer noopener\">Varadi, M <em>et al<\/em>. AlphaFold Protein Structure Database: massively expanding the structural coverage of protein-sequence space with high-accuracy models. <em>Nucleic Acids Research <\/em>(2021)<\/a>.<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\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","protected":false},"excerpt":{"rendered":"\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081\u672c\u8a18\u4e8b\u3067\u306f\u3001\u30b6\u30d2\u30eb\u30fb\u30d5\u30ea&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q11-q22-deletion-syndrome\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":91740,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[58],"tags":[33,43,49,73],"class_list":["post-83567","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genetic-disorder","tag-symptom","tag-gene","tag-genetic-disease","tag-deletion-syndrome"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83567","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/101"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=83567"}],"version-history":[{"count":11,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83567\/revisions"}],"predecessor-version":[{"id":111325,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83567\/revisions\/111325"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/91740"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=83567"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=83567"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=83567"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}