{"id":85407,"date":"2024-11-14T14:24:16","date_gmt":"2024-11-14T05:24:16","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nablus-mask-like-facial-syndrome-nmlfs-22q11-2\/"},"modified":"2025-08-12T11:12:39","modified_gmt":"2025-08-12T02:12:39","slug":"nablus-mask-like-facial-syndrome-nmlfs-22q11-2","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nablus-mask-like-facial-syndrome-nmlfs-22q11-2\/?lang=zh-hans","title":{"rendered":"\u6bdb\u9aea\u9f3b\u6307\u9aa8\u75c7\u5019\u7fa42\u578b\uff08Trichorhinophalangeal syndrome type 2 \uff1bTRPS2\uff09"},"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>\u4e09\u5c16\u982d\u9f3b\u6307\u7bc0\u75c7\u5019\u7fa4\u30bf\u30a4\u30d7II\uff08TRPS2\uff09\u306f\u3001\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3001TRPS1\u3001RAD21\u3001EXT1\u306a\u3069\u8907\u6570\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u539f\u56e0\u3067\u3059\u3002\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u9aa8\u683c\u7570\u5e38\u3001\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u3001\u591a\u767a\u6027\u9aa8\u8edf\u9aa8\u816b\u306a\u3069\u306e\u75c7\u72b6\u3092\u4f34\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001TRPS2\u306e\u539f\u56e0\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u305d\u3057\u3066\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u305f\u3081\u306e\u6cbb\u7642\u3068\u7ba1\u7406\u306e\u65b9\u6cd5\u3092\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p><\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_83 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 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>\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-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nablus-mask-like-facial-syndrome-nmlfs-22q11-2\/?lang=zh-hans\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\" >\u5f15\u7528\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AF%9B%E9%AB%AA%E9%BC%BB%E6%8C%87%E9%AA%A8%E7%97%87%E5%80%99%E7%BE%A4%E5%91%BD%E5%90%8D\"><\/span>\u6bdb\u9aea\u9f3b\u6307\u9aa8\u75c7\u5019\u7fa4\u547d\u540d<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>2023\u5e74\u306b\u907a\u4f1d\u6027\u9aa8\u683c\u75be\u60a3\u306e\u5206\u985e\u304c\u898b\u76f4\u3055\u308c\u3001\u3053\u308c\u307e\u30671,2,3\u578b\u306b\u3055\u308c\u3066\u3044\u305f\u4e09\u5c16\u982d\u9f3b\u6307\u7bc0\u7570\u5f62\u6210\u75c7\u5019\u7fa4\uff08TPRS\uff09\u306f2\u3064\u306b\u518d\u5206\u985e\u3055\u308c\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u81e8\u5e8a\u7684\u7279\u5fb4\u3092\u8a55\u4fa1\u3057\u305f\u7d50\u679c\u3001\uff11\u578b\u3068\uff13\u578b\u306f\u540c\u3058\u5e83\u3044\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306b\u5c5e\u3057\u3001\u7570\u306a\u308b\u72ec\u7acb\u3057\u305f\u81e8\u5e8a\u30bf\u30a4\u30d7\u3067\u306f\u306a\u3044\u3053\u3068\u304c\u8a8d\u8b58\u3055\u308c\u307e\u3057\u305f\u3002\uff11\u578b\u3068\uff13\u578b\u306e\u4e21\u65b9\u306f\u3001\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u306b8q23.3\u306b\u4f4d\u7f6e\u3059\u308bTRPS1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3001\uff12\u578b\u306f\u30e9\u30f3\u30b0\u30fc\u30fb\u30ae\u30fc\u30c7\u30a3\u30aa\u30f3\u75c7\u5019\u7fa4\u3068\u3082\u547c\u3070\u308c\u3001TRPS1\u907a\u4f1d\u5b50\u3060\u3051\u3067\u306a\u304f\u3001EXT1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u30bf\u30a4\u30d7\u306f\u3001\u3088\u308a\u5e83\u3044\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u9818\u57df\u3067\u3042\u308b8q24.11-q24.13\u306b\u5bfe\u5fdc\u3057\u3066\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u6bdb\u9aea\u9f3b\u6307\u9aa8\u75c7\u5019\u7fa42\u578b\uff08TRPS2\uff09\u306b\u3064\u3044\u3066\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=\"%E7%96%BE%E6%82%A3%E6%A6%82%E8%A6%81\"><\/span>\u75be\u60a3\u6982\u8981<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/8q23.3q24.11-hgtIdeo_genome_3d1325_5dc480-1024x20.png\" alt=\"8q23.3q24.11\" class=\"wp-image-89697\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u4e09\u5c16\u982d\u9f3b\u6307\u7bc0\u75c7\u5019\u7fa4\u30bf\u30a4\u30d7II\uff08TRPS2\uff09\u306f\u3001\u30e9\u30f3\u30b0\u30fc\u30fb\u30ae\u30fc\u30c7\u30a3\u30aa\u30f3\u75c7\u5019\u7fa4\uff08LGS\uff09\u3068\u3082\u547c\u3070\u308c\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001<em>TRPS1<\/em>\u3001<em>RAD21<\/em>\u3001<em>EXT1<\/em>\u306a\u3069\u8907\u6570\u306e\u96a3\u63a5\u3059\u308b\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u9023\u7d9a\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u9aa8\u683c\u7570\u5e38\u3001\u5168\u8eab\u7684\u306a\u75c7\u72b6\u304c\u4e3b\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>TRPS2\u306e\u60a3\u8005\u306b\u306f\u3001\u7279\u5fb4\u7684\u306a\u9854\u306e\u7570\u5e38\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u5927\u304d\u304f\u4e38\u3044\u9f3b\uff08\u7403\u72b6\u9f3b\uff09\u3001\u5e45\u5e83\u3044\u9f3b\u6881\u3001\u767a\u9054\u4e0d\u826f\u306e\u9f3b\u7ffc\u3001\u5e73\u5766\u306a\u4eba\u4e2d\u3092\u6301\u3064\u9577\u3044\u4e0a\u5507\u3001\u5927\u304d\u304f\u7a81\u304d\u51fa\u305f\u8033\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u7709\u6bdb\u306f\u4e2d\u592e\u90e8\u304c\u592a\u304f\u5e83\u304c\u308b\u50be\u5411\u304c\u3042\u308a\u3001\u4e0a\u5507\u306f\u8584\u304f\u898b\u3048\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u982d\u9aea\u306f\u7d30\u304f\u3001\u91cf\u304c\u5c11\u306a\u304f\u3001\u3082\u308d\u3044\u4e0a\u306b\u6210\u9577\u304c\u9045\u304f\u3001\u722a\u306b\u3082\u5909\u5f62\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u5916\u80da\u8449\u6027\u306e\u7279\u5fb4\u306b\u52a0\u3048\u3066\u3001\u4f4e\u8eab\u9577\u3084\u77ed\u3044\u6307\uff08\u77ed\u6307\u75c7\uff09\u3001\u6307\u306e\u5c3a\u5074\u307e\u305f\u306f\u6a48\u5074\u3078\u306e\u6e7e\u66f2\u3001\u77ed\u3044\u8db3\u3001\u91cd\u5ea6\u306e\u65e9\u671f\u767a\u75c7\u306e\u80a1\u95a2\u7bc0\u5f62\u6210\u4e0d\u5168\u306a\u3069\u3001\u9aa8\u683c\u306e\u7570\u5e38\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/metachromatic-leukodystrophy-arsa-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08\u30a2\u30ea\u30eb\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bcA\u6b20\u640d\u75c7\uff09\u3010ARSA\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08MLD\uff09\u306f\u3001\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u539f\u56e0\u30fb\u75c7\u72b6\u30fb\u691c\u67fb\u30fb\u6cbb\u7642\u3092\u5c02\u9580\u7684\u304b\u3064\u3084\u3055\u3057\u304f\u3054\u7d39\u4ecb\u3057\u307e\u3059\u3002\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3...<\/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=\"517\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chr8.png\" alt=\"chr8\" class=\"wp-image-89704\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>TRPS2\u306e\u7279\u5fb4\u3068\u3057\u3066\u3001\u8907\u6570\u306e\u9aa8\u8edf\u9aa8\u816b\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u3001\u9577\u9aa8\u306e\u9aa8\u5e79\u7aef\u304b\u3089\u767a\u751f\u3059\u308b\u826f\u6027\u306e\u9aa8\u306e\u5897\u6b96\u3067\u3001\u5e73\u5766\u306a\u5f62\uff08\u30bb\u30c3\u30b7\u30eb\uff09\u307e\u305f\u306f\u67c4\u306e\u3088\u3046\u306b\u7a81\u304d\u51fa\u305f\u5f62\uff08\u830e\u72b6\uff09\u3092\u53d6\u308a\u307e\u3059\u3002\u95a2\u7bc0\u304b\u3089\u96e2\u308c\u308b\u65b9\u5411\u306b\u6210\u9577\u3057\u3084\u3059\u304f\u3001\u7279\u306b\u8098\u3084\u819d\u3001\u80a9\u7532\u9aa8\u306e\u5468\u8fba\u3067\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u4ed6\u306e\u95a2\u7bc0\u306b\u3082\u767a\u751f\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u70b9\u304c\u3001\u9aa8\u8edf\u9aa8\u816b\u3092\u4f34\u308f\u306a\u3044TRPS\u30bf\u30a4\u30d7I\u3068\u306e\u660e\u78ba\u306a\u9055\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u77e5\u7684\u767a\u9054\u306e\u7a0b\u5ea6\u306f\u60a3\u8005\u3054\u3068\u306b\u7570\u306a\u308a\u3001\u6b63\u5e38\u304b\u3089\u8efd\u5ea6\u307e\u305f\u306f\u4e2d\u7b49\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u3066\u3093\u304b\u3093\u767a\u4f5c\u3092\u7d4c\u9a13\u3059\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u4ed6\u3001\u6ccc\u5c3f\u751f\u6b96\u5668\u7cfb\u3084\u5185\u5206\u6ccc\u7cfb\u306e\u7570\u5e38\u304c\u73fe\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>TRPS\u30bf\u30a4\u30d7I\u3068\u30bf\u30a4\u30d7II\u306f\u3001\u5171\u901a\u3059\u308b\u7279\u5fb4\u3068\u3057\u3066\u3001\u7279\u6709\u306e\u9854\u8c8c\u3001\u9aa8\u683c\u7570\u5e38\u3001\u982d\u9aea\u3084\u722a\u306e\u7570\u5e38\u306a\u3069\u306e\u5916\u80da\u8449\u6027\u306e\u554f\u984c\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001TRPS2\u3067\u306f\u8907\u6570\u306e\u9aa8\u8edf\u9aa8\u816b\u3084\u3001\u3088\u308a\u9ad8\u3044<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u30ea\u30b9\u30af\u304c\u52a0\u308f\u308b\u70b9\u3067\u7570\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u3001\u95a2\u4e0e\u3059\u308b\u907a\u4f1d\u5b50\u6b20\u5931\u304c\u5e83\u7bc4\u3067\u3042\u308b\u305f\u3081\u306b\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>2024\u5e743\u6708\u6642\u70b9\u3067\u3001TRPS\u306e\u6709\u75c5\u7387\u306b\u95a2\u3059\u308b\u4eba\u53e3\u30d9\u30fc\u30b9\u306e\u63a8\u5b9a\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3053\u306e\u75be\u60a3\u306e\u7a00\u5c11\u6027\u3092\u793a\u3059\u4e00\u65b9\u3067\u3001TRPS2\u306e\u7ba1\u7406\u306b\u306f\u9aa8\u683c\u3084\u795e\u7d4c\u7cfb\u3001\u305d\u306e\u4ed6\u306e\u5168\u8eab\u7684\u306a\u75c7\u72b6\u306b\u5bfe\u51e6\u3059\u308b\u591a\u5206\u91ce\u306e\u5c02\u9580\u7684\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002\u9069\u5207\u306a\u30b1\u30a2\u3092\u63d0\u4f9b\u3059\u308b\u3053\u3068\u3067\u3001\u60a3\u8005\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\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>\u4e09\u5c16\u982d\u9f3b\u6307\u7bc0\u75c7\u5019\u7fa4\u30bf\u30a4\u30d7II\uff08TRPS2\uff09\u3001\u307e\u305f\u306f\u30e9\u30f3\u30b0\u30fc\u30fb\u30ae\u30fc\u30c7\u30a3\u30aa\u30f3\u75c7\u5019\u7fa4\uff08Langer-Giedion Syndrome\uff09\u306f\u3001\u67d3\u8272\u4f538\u306e\u7279\u5b9a\u306e\u9818\u57df\uff088q23.3-q24.11\uff09\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u6b20\u5931\u306b\u3088\u308a\u3001<em>TRPS1<\/em>\u3001<em>RAD21<\/em>\u3001<em>EXT1<\/em>\u3092\u542b\u3080\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c\u5931\u308f\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306f\u4f53\u306e\u767a\u9054\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u3053\u306e\u75be\u60a3\u306f\u300c\u9023\u7d9a\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d\u3068\u3057\u3066\u5206\u985e\u3055\u308c\u307e\u3059\u3002\u307b\u3068\u3093\u3069\u306e\u30b1\u30fc\u30b9\u306f\u81ea\u7136\u767a\u751f\u7684\uff08de novo\uff09\u306b\u8d77\u3053\u308a\u307e\u3059\u304c\u3001\u4e00\u90e8\u306e\u30b1\u30fc\u30b9\u3067\u306f\u907a\u4f1d\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u7a00\u306b<em>RAD21<\/em>\u3068<em>EXT1<\/em>\u3060\u3051\u304c\u6b20\u5931\u3059\u308b\u5834\u5408\u304c\u3042\u308a\u3001\u30b3\u30fc\u30cd\u30ea\u30a2\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\u75c7\u5019\u7fa4\u306b\u4f3c\u305f\u9854\u306e\u7279\u5fb4\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><em>TRPS1<\/em>\u907a\u4f1d\u5b50\u306f\u3001\u4f53\u306e\u6210\u9577\u3068\u767a\u9054\u3092\u8abf\u7bc0\u3059\u308b\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u80da\u767a\u751f\u671f\u306b\u304a\u3051\u308b\u6bdb\u5305\u306e\u5f62\u6210\u3001\u8edf\u9aa8\u306e\u767a\u9054\u3001\u95a2\u7bc0\u306e\u5f62\u6210\u306a\u3069\u3001\u3055\u307e\u3056\u307e\u306a\u30d7\u30ed\u30bb\u30b9\u3092\u5236\u5fa1\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u814e\u81d3\u306e\u767a\u9054\u306b\u3082\u95a2\u4e0e\u3057\u3001\u672a\u719f\u306a\u814e\u7d30\u80de\u3092\u6210\u719f\u3057\u305f\u7d30\u80de\u3078\u3068\u5909\u63db\u3059\u308b\u5f79\u5272\u3092\u62c5\u3044\u307e\u3059\u3002\u3055\u3089\u306b\u3001<em>TRPS1<\/em>\u306f\u7d30\u80de\u306e\u6210\u9577\u3068\u6b7b\u306e\u30d0\u30e9\u30f3\u30b9\u3092\u4fdd\u3064\u50cd\u304d\u3092\u3057\u3066\u304a\u308a\u3001\u3053\u308c\u304c\u4e71\u308c\u308b\u3068\u524d\u7acb\u817a\u764c\u3084\u4e73\u764c\u306a\u3069\u306e\u4e00\u90e8\u306e\u764c\u306b\u95a2\u9023\u3059\u308b\u53ef\u80fd\u6027\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\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p><em>RAD21<\/em>\u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u5206\u88c2\u306e\u969b\u306b\u67d3\u8272\u4f53\u304c\u6b63\u78ba\u306b\u8907\u88fd\u3055\u308c\u308b\u3053\u3068\u3092\u78ba\u5b9f\u306b\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u8907\u5408\u4f53\u306e\u4e00\u90e8\u3092\u5f62\u6210\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u640d\u50b7\u3057\u305fDNA\u306e\u4fee\u5fa9\u3084\u3001\u67d3\u8272\u4f53\u306e\u4e0d\u5b89\u5b9a\u5316\u3092\u9632\u3050\u5f79\u5272\u3082\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001<em>RAD21<\/em>\u306f\u7d30\u80de\u306e\u6b63\u5e38\u306a\u6210\u9577\u3001\u907a\u4f1d\u5b50\u306e\u6d3b\u52d5\u3001\u304a\u3088\u3073\u6d88\u5316\u5668\u7cfb\u3092\u542b\u3080\u7279\u5b9a\u306e\u7d44\u7e54\u306e\u767a\u9054\u3092\u652f\u3048\u308b\u5f79\u5272\u3082\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><em>EXT1<\/em>\u907a\u4f1d\u5b50\u306f\u3001\u30a8\u30af\u30b9\u30c8\u30b7\u30f3-1\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u751f\u6210\u3057\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u30a8\u30af\u30b9\u30c8\u30b7\u30f3-2\u3068\u5354\u529b\u3057\u3066\u30d8\u30d1\u30e9\u30f3\u786b\u9178\u3068\u547c\u3070\u308c\u308b\u5206\u5b50\u3092\u5f62\u6210\u3057\u307e\u3059\u3002\u30d8\u30d1\u30e9\u30f3\u786b\u9178\u306f\u7d30\u80de\u9593\u7269\u8cea\u306e\u91cd\u8981\u306a\u69cb\u6210\u8981\u7d20\u3067\u3042\u308a\u3001\u7d44\u7e54\u306e\u5065\u5eb7\u7dad\u6301\u3084\u7d30\u80de\u9593\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002<em>EXT1<\/em>\u304c\u6b20\u5931\u3059\u308b\u3068\u3001\u7d44\u7e54\u3084\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u304c\u6b63\u5e38\u306b\u6a5f\u80fd\u3057\u306a\u304f\u306a\u308b\u53ef\u80fd\u6027\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=\"517\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chr8.png\" alt=\"chr8\" class=\"wp-image-89704\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>TRPS2\u306e\u75c7\u72b6\u3084\u91cd\u75c7\u5ea6\u306f\u3001\u6b20\u5931\u3057\u305f\u907a\u4f1d\u7269\u8cea\u306e\u91cf\u3084\u5f71\u97ff\u3092\u53d7\u3051\u305f\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u4e00\u822c\u7684\u306a\u75c7\u72b6\u306b\u306f\u3001\u5e45\u5e83\u3044\u9f3b\u6881\u3092\u6301\u3064\u5927\u304d\u306a\u9f3b\u3001\u8584\u3044\u982d\u9aea\u3001\u4f4e\u8eab\u9577\u306a\u3069\u306e\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u77ed\u3044\u6307\uff08\u77ed\u6307\u75c7\uff09\u3084\u80a1\u95a2\u7bc0\u306e\u65e9\u671f\u969c\u5bb3\u306a\u3069\u3001\u9aa8\u683c\u306e\u554f\u984c\u3082\u5178\u578b\u7684\u3067\u3059\u3002\u3055\u3089\u306b\u3001TRPS2\u306f\u826f\u6027\u306e\u9aa8\u306e\u5897\u6b96\uff08\u9aa8\u8edf\u9aa8\u816b\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u3053\u308c\u3089\u306f\u4ed6\u306e\u30bf\u30a4\u30d7\u306eTRPS\u3067\u306f\u898b\u3089\u308c\u306a\u3044\u7279\u5fb4\u3067\u3059\u3002\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u30ea\u30b9\u30af\u304c\u5897\u52a0\u3059\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306b\u3001\u6b20\u5931\u3057\u305f\u907a\u4f1d\u5b50\u304c\u767a\u9054\u3084\u4f53\u306e\u6a5f\u80fd\u306b\u679c\u305f\u3059\u591a\u304f\u306e\u5f79\u5272\u304c\u3001\u75c7\u72b6\u306e\u8907\u96d1\u3055\u306b\u53cd\u6620\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" 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\/24474970_s.jpg\" alt=\"\u5b89\u5b9a\u306a\u6301\u3061\u65b9\" class=\"wp-image-87719\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>DNA\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u7121\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09\u304c\u4fe1\u983c\u6027\u304c\u9ad8\u304f\u5b89\u5168\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u65b9\u6cd5\u3068\u3057\u3066\u6ce8\u76ee\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5f93\u6765\u306e\u4fb5\u8972\u7684\u691c\u67fb\u65b9\u6cd5\u3001\u4f8b\u3048\u3070\u80ce\u5150FISH\uff08\u86cd\u5149in situ\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff09\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3067\u306f\u3001\u7f8a\u6c34\u3084\u7d68\u6bdb\u7d30\u80de\u306e\u30b5\u30f3\u30d7\u30eb\u3092\u63a1\u53d6\u3059\u308b\u305f\u3081\u306b\u5b50\u5bae\u306b\u91dd\u3092\u633f\u5165\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3057\u305f\u3002\u4e00\u65b9\u3001NIPT\u3067\u306f\u6bcd\u4f53\u306e\u8840\u6db2\u4e2d\u306b\u542b\u307e\u308c\u308b\u80ce\u5150\u7531\u6765\u306e\u7d30\u80de\u3092\u5206\u6790\u3059\u308b\u305f\u3081\u3001\u6bcd\u4f53\u3084\u80ce\u5150\u306e\u5065\u5eb7\u306b\u30ea\u30b9\u30af\u3092\u4e0e\u3048\u308b\u3053\u3068\u306a\u304f\u4fe1\u983c\u6027\u306e\u9ad8\u3044\u7d50\u679c\u304c\u5f97\u3089\u308c\u307e\u3059\u3002\u3053\u306e\u305f\u3081\u3001\u5b89\u5168\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u65b9\u6cd5\u3092\u6c42\u3081\u308b\u598a\u5a66\u306e\u9593\u3067NIPT\u306f\u307e\u3059\u307e\u3059\u4eba\u6c17\u3092\u96c6\u3081\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E3%81%AE%E7%97%87%E7%8A%B6%E3%81%A8%E7%AE%A1%E7%90%86%E6%96%B9%E6%B3%95\"><\/span>\u75be\u60a3\u306e\u75c7\u72b6\u3068\u7ba1\u7406\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u75c7\u72b6\u3084\u91cd\u75c7\u5ea6\u306f\u3001\u500b\u3005\u306e\u60a3\u8005\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u51fa\u751f\u524d\u304a\u3088\u3073\u51fa\u751f\u5f8c\u306e\u6210\u9577\u9045\u5ef6\u306f\u3001\u6700\u521d\u306b\u6c17\u3065\u304b\u308c\u308b\u75c7\u72b6\u306e1\u3064\u3067\u3042\u308a\u3001\u3055\u3089\u306a\u308b\u691c\u67fb\u304c\u884c\u308f\u308c\u308b\u304d\u3063\u304b\u3051\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u75be\u60a3\u306b\u7279\u6709\u306e\u9854\u306e\u7279\u5fb4\u306f\u65e9\u671f\u304b\u3089\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u305d\u306e\u5dee\u304c\u5fae\u5999\u3067\u3042\u308b\u305f\u3081\u898b\u904e\u3054\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u3053\u306e\u75be\u60a3\u306e\u4e00\u822c\u7684\u306a\u7279\u5fb4\u3067\u3042\u308b\u982d\u9aea\u304c\u7d30\u304f\u307e\u3070\u3089\u306b\u306a\u308b\u75c7\u72b6\u306f\u3001\u4e73\u5150\u671f\u306b\u306f\u4e00\u822c\u7684\u306b\u3082\u898b\u3089\u308c\u308b\u305f\u3081\u3001\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u534a\u6570\u4ee5\u4e0a\u306e\u60a3\u8005\u306b\u304a\u3044\u3066\u3001\u5c0f\u982d\u75c7\uff08\u5e73\u5747\u3088\u308a\u3082\u5c0f\u3055\u3044\u982d\u56f2\uff09\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u904b\u52d5\u767a\u9054\u3084\u8a8d\u77e5\u767a\u9054\u306e\u9045\u308c\u306f\u3001\u8a3a\u5bdf\u3092\u53d7\u3051\u308b\u304d\u3063\u304b\u3051\u3068\u3057\u3066\u983b\u7e41\u306b\u898b\u3089\u308c\u308b\u7406\u7531\u3067\u3059\u3002\u767a\u9054\u9045\u5ef6\u306e\u7a0b\u5ea6\u306f\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u3055\u307e\u3056\u307e\u3067\u3001\u7279\u306b\u624b\u8db3\u306e\u672b\u7aef\u3084\u80a1\u95a2\u7bc0\u306b\u5f71\u97ff\u3059\u308b\u95a2\u7bc0\u306e\u554f\u984c\u3092\u8a34\u3048\u308b\u80fd\u529b\u304c\u5236\u9650\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u95a2\u7bc0\u306e\u554f\u984c\u306f\u3001\u4e09\u5c16\u982d\u9f3b\u6307\u7bc0\u75c7\u5019\u7fa4\uff08TRPS\uff09\u30bf\u30a4\u30d71\u3067\u898b\u3089\u308c\u308b\u3082\u306e\u3068\u4f3c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:23px\" 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\/23126170_s.jpg\" alt=\"\u904b\u52d5\u3000\u3066\u307e\u308a\" class=\"wp-image-89725\"\/><\/figure><\/div>\n\n\n<div style=\"height:23px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3068\u3057\u3066\u3001\u591a\u767a\u6027\u9aa8\u8edf\u9aa8\u816b\uff08\u826f\u6027\u306e\u9aa8\u306e\u5897\u6b96\uff09\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u901a\u5e38\u3001\u751f\u5f8c5\u5e74\u4ee5\u5185\u306b\u73fe\u308c\u3001\u4e3b\u306b\u624b\u8db3\u306b\u767a\u751f\u3057\u307e\u3059\u304c\u3001\u4ed6\u306e\u90e8\u4f4d\u306b\u3082\u898b\u3089\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u6642\u9593\u304c\u7d4c\u3064\u306b\u3064\u308c\u3066\u3001\u9aa8\u8edf\u9aa8\u816b\u304c\u76ee\u7acb\u3064\u3088\u3046\u306b\u306a\u308a\u3001\u9aa8\u306e\u5909\u5f62\u3084\u75db\u307f\u3001\u6a5f\u80fd\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3059\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u3053\u308c\u3089\u306e\u5897\u6b96\u304c\u60aa\u6027\u5316\u3059\u308b\u3053\u3068\u306f\u975e\u5e38\u306b\u7a00\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u75be\u60a3\u306e\u7ba1\u7406\u306f\u3001\u75c7\u72b6\u3078\u306e\u5bfe\u5fdc\u3068\u30b5\u30dd\u30fc\u30c8\u30b1\u30a2\u306b\u91cd\u70b9\u3092\u7f6e\u3044\u3066\u884c\u308f\u308c\u307e\u3059\u3002\u6210\u9577\u9045\u5ef6\u3084\u982d\u9aea\u306e\u307e\u3070\u3089\u3055\u306a\u3069\u306e\u5916\u80da\u8449\u306e\u554f\u984c\u306f\u3001TRPS\u30bf\u30a4\u30d71\u304a\u3088\u3073\u30bf\u30a4\u30d72\u306e\u3069\u3061\u3089\u3067\u3082\u540c\u69d8\u306e\u65b9\u6cd5\u3067\u5bfe\u5fdc\u3055\u308c\u307e\u3059\u304c\u3001\u60a3\u8005\u306e\u767a\u9054\u30ec\u30d9\u30eb\u306b\u5fdc\u3058\u305f\u6cbb\u7642\u304c\u5fc5\u8981\u3067\u3059\u3002\u91cd\u5ea6\u306e\u767a\u9054\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u3001\u60a3\u8005\u81ea\u8eab\u304c\u4e0d\u5feb\u611f\u3084\u554f\u984c\u3092\u4f1d\u3048\u3089\u308c\u306a\u3044\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u4ecb\u8b77\u8005\u3084\u533b\u7642\u5f93\u4e8b\u8005\u306f\u95a2\u7bc0\u306e\u554f\u984c\u3084\u75db\u307f\u306b\u6ce8\u610f\u3092\u6255\u3046\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9aa8\u8edf\u9aa8\u816b\u306b\u3064\u3044\u3066\u306f\u3001\u6574\u5f62\u5916\u79d1\u5c02\u9580\u533b\u306b\u3088\u308b\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf\u304c\u5fc5\u8981\u3067\u3059\u3002\u6cbb\u7642\u306f\u3001\u5b64\u7acb\u3057\u305f\u591a\u767a\u6027\u9aa8\u8edf\u9aa8\u816b\u306e\u5834\u5408\u3068\u540c\u69d8\u3067\u3001\u6df1\u523b\u306a\u75db\u307f\u3084\u5909\u5f62\u3001\u6a5f\u80fd\u5236\u9650\u3092\u5f15\u304d\u8d77\u3053\u3059\u5834\u5408\u306b\u306f\u5916\u79d1\u7684\u4ecb\u5165\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002\u5c0f\u5150\u79d1\u533b\u3084\u6574\u5f62\u5916\u79d1\u533b\u3001\u305d\u306e\u4ed6\u306e\u5c02\u9580\u5bb6\u304c\u9023\u643a\u3059\u308b\u591a\u5206\u91ce\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u91cd\u8981\u3067\u3042\u308a\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u6700\u9069\u5316\u3059\u308b\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:23px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/22q11-2-deletion-syndrome-distal-d-e-f\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">22q11.2 \u6b20\u5931\u75c7\u5019\u7fa4 (LCR22 B\/C-D) <\/div>\n          <div class=\"blog-card-excerpt\">22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u767a\u9054\u9045\u5ef6\u3001\u514d\u75ab\u7570\u5e38\u3001\u5fc3\u81d3\u306e\u554f\u984c\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u75be\u60a3\u3067\u3059\u3002\u65e9\u671f\u652f\u63f4\u3068\u9069\u5207\u306a\u533b\u7642\u306b\u3088\u308a\u751f\u6d3b\u306e\u8cea\u3092\u6539\u5584\u3067\u304d\u307e\u3059\u3002\r...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B0%86%E6%9D%A5%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97\"><\/span>\u5c06\u6765\u306e\u898b\u901a\u3057<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5bff\u547d\u306f\u901a\u5e38\u3068\u5909\u308f\u3089\u305a\u3001\u9577\u304f\u5065\u5eb7\u7684\u306a\u751f\u6d3b\u3092\u9001\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u904b\u52d5\u80fd\u529b\u306e\u4f4e\u4e0b\u3084\u767a\u9054\u306e\u8ab2\u984c\u304c\u751f\u6d3b\u306e\u8cea\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u8ab2\u984c\u306b\u5bfe\u3057\u3066\u306f\u3001\u9069\u5207\u306a\u30b1\u30a2\u3068\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u4e0d\u5feb\u611f\u3092\u8efd\u6e1b\u3057\u3001\u65e5\u5e38\u751f\u6d3b\u3092\u3088\u308a\u5feb\u9069\u306b\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e09\u5c16\u982d\u9f3b\u6307\u7bc0\u75c7\u5019\u7fa4\uff08TRPS\uff09\u306e\u6cbb\u7642\u306f\u3001\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u30b5\u30dd\u30fc\u30c8\u30b1\u30a2\u304c\u57fa\u672c\u3068\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u305f\u3081\u3001\u5c0f\u5150\u79d1\u533b\u3001\u5185\u5206\u6ccc\u79d1\u533b\u3001\u6574\u5f62\u5916\u79d1\u533b\u3001\u76ae\u819a\u79d1\u533b\u3001\u30ea\u30cf\u30d3\u30ea\u5c02\u9580\u533b\u3001\u6b6f\u79d1\u533b\u306a\u3069\u3001\u8907\u6570\u306e\u5c02\u9580\u5bb6\u304c\u9023\u643a\u3057\u3066\u652f\u63f4\u3092\u884c\u3046\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002\u9069\u5207\u306a\u30ea\u30cf\u30d3\u30ea\u3084\u533b\u7642\u7684\u652f\u63f4\u306b\u3088\u308a\u3001\u60a3\u8005\u3055\u3093\u304c\u53ef\u80fd\u306a\u9650\u308a\u81ea\u7acb\u3057\u3001\u5feb\u9069\u306b\u904e\u3054\u305b\u308b\u74b0\u5883\u3092\u6574\u3048\u308b\u3053\u3068\u304c\u76ee\u6307\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:22px\" 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\/24156031_s.jpg\" alt=\"\u5b50\u3069\u3082\u3092\u611b\u3055\u306a\u3044\u3068\" class=\"wp-image-87708\"\/><\/figure><\/div>\n\n\n<div style=\"height:22px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u4e00\u90e8\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001\u6210\u9577\u306b\u95a2\u308f\u308b\u8ab2\u984c\u3092\u88dc\u3046\u305f\u3081\u306b\u3001\u7d44\u307f\u63db\u3048\u578b\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5\u304c\u52b9\u679c\u7684\u3067\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306f\u3001\u60a3\u8005\u3055\u3093\u3084\u305d\u306e\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u75be\u60a3\u3078\u306e\u7406\u89e3\u3092\u6df1\u3081\u3001\u4eca\u5f8c\u306e\u30b1\u30a2\u3084\u751f\u6d3b\u8a2d\u8a08\u3092\u652f\u3048\u308b\u305f\u3081\u306e\u6709\u76ca\u306a\u624b\u6bb5\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306a\u5305\u62ec\u7684\u306a\u652f\u63f4\u3092\u901a\u3058\u3066\u3001\u60a3\u8005\u3055\u3093\u304c\u62b1\u3048\u308b\u8ab2\u984c\u306b\u5bc4\u308a\u6dfb\u3044\u3001\u3088\u308a\u826f\u3044\u751f\u6d3b\u3092\u9001\u308b\u305f\u3081\u306e\u304a\u624b\u4f1d\u3044\u3092\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<div 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T., &amp; Tufaro, F. (2000). The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. <em>Proceedings of the National Academy of Sciences of the United States of America<\/em>, <em>97<\/em>(2), 668\u2013673. https:\/\/doi.org\/10.1073\/pnas.97.2.668<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1126\/science.1061376\">Hauf, S., Waizenegger, I. C., &amp; Peters, J. M. (2001). Cohesin cleavage by separase required for anaphase and cytokinesis in human cells. <em>Science (New York, N.Y.)<\/em>, <em>293<\/em>(5533), 1320\u20131323. https:\/\/doi.org\/10.1126\/science.1061376<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.mce.2015.05.027\">Pihlajoki, M., F\u00e4rkkil\u00e4, A., Soini, T., Heikinheimo, M., &amp; Wilson, D. B. (2016). GATA factors in endocrine neoplasia. <em>Molecular and Cellular Endocrinology<\/em>, <em>421<\/em>, 2\u201317. https:\/\/doi.org\/10.1016\/j.mce.2015.05.027<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/sites\/books\/NBK425926\/\">T\u00fcys\u00fcz B, G\u00fcne\u015f N, Alkaya DU. Trichorhinophalangeal Syndrome. 2017 Apr 20 [Updated 2024 Mar 21]. 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\/sites\/books\/NBK425926\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/omim.org\/entry\/150230\">Online Mendelian Inheritance in Man. (Last updated June 2020 by Anne M. Stumpf). Retreived from https:\/\/omim.org\/entry\/150230<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/502\">Orphanet. (Last updated March 2023). <em>Trichorhinophalangeal syndrome type 2.<\/em> Reviewed by Prof. Raoul HENNEKAM &amp; Dr S.M. 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Nucleic Acids Research, 52(D1), D891\u2013D899. https:\/\/doi.org\/10.1093\/nar\/gkad1049<\/a><\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n","protected":false},"excerpt":{"rendered":"\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081\u4e09\u5c16\u982d\u9f3b\u6307\u7bc0\u75c7\u5019\u7fa4\u30bf\u30a4\u30d7&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nablus-mask-like-facial-syndrome-nmlfs-22q11-2\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":87826,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[14],"tags":[],"class_list":["post-85407","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-other-zh-hans"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85407","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=85407"}],"version-history":[{"count":22,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85407\/revisions"}],"predecessor-version":[{"id":109834,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85407\/revisions\/109834"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/87826"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=85407"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=85407"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=85407"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}