{"id":122530,"date":"2026-01-14T10:14:11","date_gmt":"2026-01-14T01:14:11","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122530"},"modified":"2026-03-27T16:12:21","modified_gmt":"2026-03-27T07:12:21","slug":"baraitser-winter-syndrome-1-symptom-genetics-diagnosis","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/baraitser-winter-syndrome-1-symptom-genetics-diagnosis\/","title":{"rendered":"Baraitser-Winter syndrome 1"},"content":{"rendered":"\n<p>Baraitser-Winter\u75c7\u5019\u7fa41\uff08BRWS1\uff09\u306f\u3001\u7d30\u80de\u9aa8\u683c\u306e\u5f62\u6210\u306b\u4e0d\u53ef\u6b20\u306a\u7d30\u80de\u8cea\u03b2-\u30a2\u30af\u30c1\u30f3\u3092\u7b26\u53f7\u5316\u3059\u308b\u300cACTB\u907a\u4f1d\u5b50\u300d\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3001\u6975\u3081\u3066\u7a00\u306a\u591a\u7cfb\u7d71\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u72ec\u7279\u306e\u9854\u8c8c\u3001\u8133\u306e\u69cb\u9020\u7684\u7570\u5e38\uff08\u7279\u306b\u76ae\u8cea\u5f62\u6210\u7570\u5e38\uff09\u3001\u305d\u3057\u3066\u591a\u69d8\u306a\u767a\u9054\u9045\u6ede\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>1988\u5e74\u306bBaraitser\u3068Winter\u306b\u3088\u3063\u3066\u521d\u3081\u3066\u5831\u544a\u3055\u308c\u3066\u4ee5\u6765\u3001\u5206\u5b50\u907a\u4f1d\u5b66\u306e\u9032\u6b69\u306b\u3088\u308a\u305d\u306e\u75c5\u614b\u89e3\u660e\u304c\u9032\u3093\u3067\u304d\u307e\u3057\u305f\u304c\u3001\u4f9d\u7136\u3068\u3057\u3066\u81e8\u5e8a\u73fe\u5834\u3067\u306e\u65e9\u671f\u8a3a\u65ad\u3084\u9577\u671f\u7684\u306a\u30de\u30cd\u30b8\u30e1\u30f3\u30c8\u306b\u306f\u9ad8\u5ea6\u306a\u5c02\u9580\u77e5\u8b58\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002\u672c\u7a3f\u3067\u306f\u3001BRWS1\u306e\u6700\u65b0\u306e\u30a8\u30d3\u30c7\u30f3\u30b9\u306b\u57fa\u3065\u304d\u3001\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u304b\u3089\u81e8\u5e8a\u75c7\u72b6\u3001\u8a3a\u65ad\u306e\u30d7\u30ed\u30bb\u30b9\u3001\u305d\u3057\u3066\u591a\u89d2\u7684\u306a\u6cbb\u7642\u4ecb\u5165\u306b\u3064\u3044\u3066\u6df1\u304f\u6398\u308a\u4e0b\u3052\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n\n\n\n<div 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\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/baraitser-winter-syndrome-1-symptom-genetics-diagnosis\/#1_Baraitser-Winter%E7%97%87%E5%80%99%E7%BE%A41%E3%81%AE%E7%97%85%E5%9B%A0%EF%BC%9AACTB%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%82%A2%E3%82%AF%E3%83%81%E3%83%B3%E7%97%85\" >1. Baraitser-Winter\u75c7\u5019\u7fa41\u306e\u75c5\u56e0\uff1aACTB\u907a\u4f1d\u5b50\u3068\u30a2\u30af\u30c1\u30f3\u75c5<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/baraitser-winter-syndrome-1-symptom-genetics-diagnosis\/#%E7%B4%B0%E8%83%9E%E9%AA%A8%E6%A0%BC%E3%81%AE%E8%A6%81%E3%80%81%CE%B2-%E3%82%A2%E3%82%AF%E3%83%81%E3%83%B3%E3%81%AE%E5%BD%B9%E5%89%B2\" >\u7d30\u80de\u9aa8\u683c\u306e\u8981\u3001\u03b2-\u30a2\u30af\u30c1\u30f3\u306e\u5f79\u5272<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/baraitser-winter-syndrome-1-symptom-genetics-diagnosis\/#%E5%84%AA%E6%80%A7%E9%98%BB%E5%AE%B3%E5%8A%B9%E6%9E%9C%E3%81%A8%E6%A9%9F%E8%83%BD%E7%8D%B2%E5%BE%97%E5%A4%89%E7%95%B0\" >\u512a\u6027\u963b\u5bb3\u52b9\u679c\u3068\u6a5f\u80fd\u7372\u5f97\u5909\u7570<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/baraitser-winter-syndrome-1-symptom-genetics-diagnosis\/#2_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E8%87%A8%E5%BA%8A%E7%97%87%E7%8A%B6%E3%81%A8%E8%A1%A8%E7%8F%BE%E5%9E%8B\" >2. \u7279\u5fb4\u7684\u306a\u81e8\u5e8a\u75c7\u72b6\u3068\u8868\u73fe\u578b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/baraitser-winter-syndrome-1-symptom-genetics-diagnosis\/#%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E8%B2%8C%EF%BC%88Facial_Dysmorphism%EF%BC%89\" >\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Facial Dysmorphism\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/baraitser-winter-syndrome-1-symptom-genetics-diagnosis\/#%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E7%95%B0%E5%B8%B8%E3%81%A8%E7%99%BA%E9%81%94%E9%81%85%E6%BB%9E\" >\u795e\u7d4c\u5b66\u7684\u7570\u5e38\u3068\u767a\u9054\u9045\u6ede<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/baraitser-winter-syndrome-1-symptom-genetics-diagnosis\/#%E6%84%9F%E8%A6%9A%E5%99%A8%E3%81%8A%E3%82%88%E3%81%B3%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\" >\u611f\u899a\u5668\u304a\u3088\u3073\u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/baraitser-winter-syndrome-1-symptom-genetics-diagnosis\/#3_%E8%A8%BA%E6%96%AD%E3%83%97%E3%83%AD%E3%82%BB%E3%82%B9%E3%81%A8%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD\" >3. 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ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/baraitser-winter-syndrome-1-symptom-genetics-diagnosis\/#%E7%99%82%E8%82%B2%E3%81%A8%E6%95%99%E8%82%B2%E7%9A%84%E6%94%AF%E6%8F%B4\" >\u7642\u80b2\u3068\u6559\u80b2\u7684\u652f\u63f4<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/baraitser-winter-syndrome-1-symptom-genetics-diagnosis\/#5_%E4%BA%88%E5%BE%8C%E3%81%A8%E6%9C%80%E6%96%B0%E3%81%AE%E7%A0%94%E7%A9%B6%E5%8B%95%E5%90%91\" >5. \u4e88\u5f8c\u3068\u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/baraitser-winter-syndrome-1-symptom-genetics-diagnosis\/#%E9%95%B7%E6%9C%9F%E7%9A%84%E3%81%AA%E5%B1%95%E6%9C%9B\" >\u9577\u671f\u7684\u306a\u5c55\u671b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/baraitser-winter-syndrome-1-symptom-genetics-diagnosis\/#%E6%9C%80%E6%96%B0%E3%81%AE%E7%A0%94%E7%A9%B6%EF%BC%9A%E3%82%A2%E3%82%AF%E3%83%81%E3%83%B3%E7%97%85%E3%81%B8%E3%81%AE%E6%96%B0%E3%81%9F%E3%81%AA%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\" >\u6700\u65b0\u306e\u7814\u7a76\uff1a\u30a2\u30af\u30c1\u30f3\u75c5\u3078\u306e\u65b0\u305f\u306a\u30a2\u30d7\u30ed\u30fc\u30c1<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/baraitser-winter-syndrome-1-symptom-genetics-diagnosis\/#%E7%B5%90%E8%AB%96\" >\u7d50\u8ad6<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_Baraitser-Winter%E7%97%87%E5%80%99%E7%BE%A41%E3%81%AE%E7%97%85%E5%9B%A0%EF%BC%9AACTB%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%82%A2%E3%82%AF%E3%83%81%E3%83%B3%E7%97%85\"><\/span><strong>1. Baraitser-Winter\u75c7\u5019\u7fa41\u306e\u75c5\u56e0\uff1aACTB\u907a\u4f1d\u5b50\u3068\u30a2\u30af\u30c1\u30f3\u75c5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Baraitser-Winter\u75c7\u5019\u7fa4\u306f\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u300c\u30bf\u30a4\u30d71\u300d\u3068\u300c\u30bf\u30a4\u30d72\u300d\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u304c\u3001\u672c\u7a3f\u3067\u7126\u70b9\u3092\u5f53\u3066\u308b<strong>Baraitser-Winter syndrome 1 (BRWS1)\u306f\u3001\u7b2c7\u67d3\u8272\u4f53\uff087p22.1\uff09\u306b\u4f4d\u7f6e\u3059\u308bACTB\u907a\u4f1d\u5b50<\/strong>\u306e\u30d8\u30c6\u30ed\u63a5\u5408\u578b\u5909\u7570\u3092\u539f\u56e0\u3068\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B4%B0%E8%83%9E%E9%AA%A8%E6%A0%BC%E3%81%AE%E8%A6%81%E3%80%81%CE%B2-%E3%82%A2%E3%82%AF%E3%83%81%E3%83%B3%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>\u7d30\u80de\u9aa8\u683c\u306e\u8981\u3001\u03b2-\u30a2\u30af\u30c1\u30f3\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>ACTB\u907a\u4f1d\u5b50\u306f\u3001\u975e\u7b4b\u8089\u7d30\u80de\u306b\u304a\u3044\u3066\u7d30\u80de\u9aa8\u683c\u306e\u4e3b\u8981\u6210\u5206\u3067\u3042\u308b**\u03b2-\u30a2\u30af\u30c1\u30f3\uff08beta-actin\uff09**\u3092\u751f\u6210\u3057\u307e\u3059\u3002\u03b2-\u30a2\u30af\u30c1\u30f3\u306f\u3001\u7d30\u80de\u306e\u5f62\u72b6\u7dad\u6301\u3001\u7d30\u80de\u5206\u88c2\u3001\u7d30\u80de\u79fb\u52d5\u3001\u304a\u3088\u3073\u7d30\u80de\u5185\u8f38\u9001\u306b\u304a\u3044\u3066\u4e2d\u5fc3\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%84%AA%E6%80%A7%E9%98%BB%E5%AE%B3%E5%8A%B9%E6%9E%9C%E3%81%A8%E6%A9%9F%E8%83%BD%E7%8D%B2%E5%BE%97%E5%A4%89%E7%95%B0\"><\/span><strong>\u512a\u6027\u963b\u5bb3\u52b9\u679c\u3068\u6a5f\u80fd\u7372\u5f97\u5909\u7570<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>BRWS1\u306b\u304a\u3051\u308b\u5909\u7570\u306e\u591a\u304f\u306f\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u3067\u3042\u308a\u3001\u3053\u308c\u304c\u6b63\u5e38\u306a\u30a2\u30af\u30c1\u30f3\u30d5\u30a3\u30e9\u30e1\u30f3\u30c8\u306e\u91cd\u5408\u3092\u963b\u5bb3\u3059\u308b\u3001\u3042\u308b\u3044\u306f\u7d30\u80de\u5185\u3067\u306e\u30a2\u30af\u30c1\u30f3\u52d5\u614b\u3092\u7570\u5e38\u306b\u6d3b\u6027\u5316\u3055\u305b\u308b\u300c\u512a\u6027\u963b\u5bb3\uff08dominant-negative\uff09\u300d\u307e\u305f\u306f\u300c\u6a5f\u80fd\u7372\u5f97\uff08gain-of-function\uff09\u300d\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u6301\u3064\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u80da\u5f62\u6210\u671f\u306b\u304a\u3051\u308b\u795e\u7d4c\u7d30\u80de\u306e\u79fb\u52d5\uff08\u30cb\u30e5\u30fc\u30ed\u30f3\u30fb\u30de\u30a4\u30b0\u30ec\u30fc\u30b7\u30e7\u30f3\uff09\u306b\u652f\u969c\u3092\u304d\u305f\u3059\u3053\u3068\u304c\u3001\u5f8c\u8ff0\u3059\u308b\u8133\u5f62\u614b\u7570\u5e38\u306e\u76f4\u63a5\u7684\u306a\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E8%87%A8%E5%BA%8A%E7%97%87%E7%8A%B6%E3%81%A8%E8%A1%A8%E7%8F%BE%E5%9E%8B\"><\/span><strong>2. \u7279\u5fb4\u7684\u306a\u81e8\u5e8a\u75c7\u72b6\u3068\u8868\u73fe\u578b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>BRWS1\u306e\u8868\u73fe\u578b\u306f\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u304c\u3001\u8a3a\u65ad\u306e\u9375\u3068\u306a\u308b\u306e\u306f\u300c\u9854\u8c8c\u300d\u300c\u795e\u7d4c\u7cfb\u300d\u300c\u611f\u899a\u5668\u300d\u306e3\u9818\u57df\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E8%B2%8C%EF%BC%88Facial_Dysmorphism%EF%BC%89\"><\/span><strong>\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Facial Dysmorphism\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>BRWS1\u306e\u60a3\u8005\u306b\u306f\u3001\u4e00\u76ee\u3067\u8b58\u5225\u53ef\u80fd\u306a\u72ec\u7279\u306e\u9854\u8c8c\u7684\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u9593\u89e3\u96e2\uff08Hypertelorism\uff09\uff1a<\/strong> \u4e21\u773c\u306e\u9593\u9694\u304c\u5e83\u3044\u3002<\/li>\n\n\n\n<li><strong>\u773c\u77bc\u88c2\u72ed\u5c0f\u3068\u773c\u77bc\u4e0b\u5782\uff1a<\/strong> \u76ee\u304c\u5c0f\u3055\u304f\u898b\u3048\u3001\u4e0a\u307e\u3076\u305f\u304c\u5782\u308c\u4e0b\u304c\u308b\u3002<\/li>\n\n\n\n<li><strong>\u9ad8\u3044\u5f13\u72b6\u306e\u7709\uff1a<\/strong> \u975e\u5e38\u306b\u7279\u5fb4\u7684\u306a\u3001\u9ad8\u304f\u30a2\u30fc\u30c1\u3092\u63cf\u3044\u305f\u7709\u3002<\/li>\n\n\n\n<li><strong>\u9f3b\u6839\u90e8\u306e\u6241\u5e73\u5316\u3068\u5e83\u9f3b\uff1a<\/strong> \u9f3b\u306e\u4ed8\u3051\u6839\u304c\u4f4e\u304f\u3001\u9f3b\u7ffc\u304c\u5e83\u3044\u3002<\/li>\n\n\n\n<li><strong>\u9577\u3044\u4eba\u4e2d\uff1a<\/strong> \u9f3b\u306e\u4e0b\u304b\u3089\u5507\u307e\u3067\u306e\u6e9d\u304c\u9577\u3044\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E7%95%B0%E5%B8%B8%E3%81%A8%E7%99%BA%E9%81%94%E9%81%85%E6%BB%9E\"><\/span><strong>\u795e\u7d4c\u5b66\u7684\u7570\u5e38\u3068\u767a\u9054\u9045\u6ede<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8133\u306eMRI\u691c\u67fb\u306b\u304a\u3044\u3066\u3001\u591a\u304f\u306e\u75c7\u4f8b\u3067\u76ae\u8cea\u5f62\u6210\u7570\u5e38\uff08Malformations of Cortical Development: MCD\uff09\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6ed1\u8133\u75c7\uff08Pachygyria\/Lissencephaly\uff09\uff1a<\/strong> \u8133\u56de\u306e\u80a5\u539a\u3084\u5358\u7d14\u5316\u3002\u7279\u306b\u524d\u982d\u8449\u304b\u3089\u982d\u9802\u8449\u306b\u304b\u3051\u3066\u9855\u8457\u306b\u898b\u3089\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8133\u6881\u6b20\u640d\u30fb\u5f62\u6210\u4e0d\u5168\uff1a<\/strong> \u5de6\u53f3\u306e\u8133\u3092\u3064\u306a\u3050\u7d44\u7e54\u306e\u7570\u5e38\u3002<\/li>\n\n\n\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff1a<\/strong> \u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u5834\u5408\u3001\u4e2d\u7b49\u5ea6\u4ee5\u4e0a\u306e\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\uff1a<\/strong> \u8133\u306e\u69cb\u9020\u7570\u5e38\u306b\u4f34\u3044\u3001\u96e3\u6cbb\u6027\u306e\u3066\u3093\u304b\u3093\u767a\u4f5c\u3092\u767a\u75c7\u3059\u308b\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%84%9F%E8%A6%9A%E5%99%A8%E3%81%8A%E3%82%88%E3%81%B3%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\"><\/span><strong>\u611f\u899a\u5668\u304a\u3088\u3073\u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u611f\u97f3\u6027\u96e3\u8074\uff1a<\/strong> \u51fa\u751f\u6642\u3042\u308b\u3044\u306f\u5e7c\u5150\u671f\u306b\u9032\u884c\u6027\u306e\u96e3\u8074\u304c\u8a8d\u3081\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u7684\u7570\u5e38\uff1a<\/strong> \u773c\u7403\u6b20\u640d\uff08Coloboma\uff09\u3084\u5c0f\u773c\u7403\u75c7\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c\u7cfb\uff1a<\/strong> \u8eab\u9577\u306e\u4f38\u3073\u304c\u60aa\u3044\uff08\u4f4e\u8eab\u9577\uff09\u3001\u95a2\u7bc0\u306e\u62d8\u7e2e\u3001\u7ffc\u72b6\u9838\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%A8%BA%E6%96%AD%E3%83%97%E3%83%AD%E3%82%BB%E3%82%B9%E3%81%A8%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD\"><\/span><strong>3. \u8a3a\u65ad\u30d7\u30ed\u30bb\u30b9\u3068\u9451\u5225\u8a3a\u65ad<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>BRWS1\u306e\u8a3a\u65ad\u306f\u3001\u81e8\u5e8a\u75c7\u72b6\u306e\u8a55\u4fa1\u3068\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%87%A8%E5%BA%8A%E8%A8%BA%E6%96%AD%E5%9F%BA%E6%BA%96\"><\/span><strong>\u81e8\u5e8a\u8a3a\u65ad\u57fa\u6e96<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4ee5\u4e0b\u306e\u7279\u5fb4\u304c\u8907\u6570\u8a8d\u3081\u3089\u308c\u308b\u5834\u5408\u3001BRWS1\u304c\u5f37\u304f\u7591\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08\u7279\u306b\u773c\u9593\u89e3\u96e2\u3068\u9ad8\u3044\u30a2\u30fc\u30c1\u72b6\u306e\u7709\uff09<\/li>\n\n\n\n<li>MRI\u3067\u306e\u8133\u56de\u7570\u5e38\uff08\u6ed1\u8133\u75c7\u3001\u539a\u8133\u56de\uff09<\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u307e\u305f\u306f\u767a\u9054\u9045\u6ede<\/li>\n\n\n\n<li>\u611f\u97f3\u6027\u96e3\u8074<\/li>\n<\/ol>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001<strong>ACTB\u907a\u4f1d\u5b50\u306e\u5909\u7570\u540c\u5b9a<\/strong>\u304c\u5fc5\u9808\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\uff1a<\/strong> \u30bf\u30fc\u30b2\u30c3\u30c8\u30d1\u30cd\u30eb\u691c\u67fb\u3084\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u304c\u6709\u52b9\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30b5\u30f3\u30ac\u30fc\u6cd5\uff1a<\/strong> \u7279\u5b9a\u306e\u5909\u7570\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u3084\u3001\u5bb6\u65cf\u5185\u691c\u67fb\u306b\u7528\u3044\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%91%91%E5%88%A5%E3%81%99%E3%81%B9%E3%81%8D%E7%96%BE%E6%82%A3\"><\/span><strong>\u9451\u5225\u3059\u3079\u304d\u75be\u60a3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>BRWS1\u3068\u75c7\u72b6\u304c\u91cd\u8907\u3059\u308b\u4ee5\u4e0b\u306e\u75be\u60a3\u3068\u306e\u9451\u5225\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Baraitser-Winter syndrome 2 (BRWS2)\uff1a<\/strong> \u539f\u56e0\u907a\u4f1d\u5b50\u304c<strong>ACTG1<\/strong>\uff08\u7d30\u80de\u8cea\u03b3-\u30a2\u30af\u30c1\u30f3\uff09\u3067\u3042\u308a\u3001\u81e8\u5e8a\u7684\u306b\u306fBRWS1\u3068\u307b\u307c\u5224\u5225\u4e0d\u80fd\u3067\u3059\u304c\u3001\u5909\u7570\u90e8\u4f4d\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>Fryns\u75c7\u5019\u7fa4\uff1a<\/strong> \u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u3084\u6307\u306e\u5f62\u6210\u4e0d\u5168\u3092\u4f34\u3044\u307e\u3059\u304c\u3001\u9854\u8c8c\u306b\u985e\u4f3c\u70b9\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>Noonan\u75c7\u5019\u7fa4\uff1a<\/strong> \u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3084\u7ffc\u72b6\u9838\u304c\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u8133\u5f62\u614b\u7570\u5e38\u306e\u30d1\u30bf\u30fc\u30f3\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\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\/2026\/01\/32981426_s-10.webp\" alt=\"\u533b\u8005\" class=\"wp-image-121595\"\/><\/figure><\/div>\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E5%8C%85%E6%8B%AC%E7%9A%84%E3%83%9E%E3%83%8D%E3%82%B8%E3%83%A1%E3%83%B3%E3%83%88%E3%81%A8%E6%B2%BB%E7%99%82%E7%9A%84%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\"><\/span><strong>4. \u5305\u62ec\u7684\u30de\u30cd\u30b8\u30e1\u30f3\u30c8\u3068\u6cbb\u7642\u7684\u30a2\u30d7\u30ed\u30fc\u30c1<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u6642\u70b9\u3067\u306f\u3001BRWS1\u306e\u6839\u672c\u7684\u306a\u539f\u56e0\uff08\u907a\u4f1d\u5b50\u5909\u7570\uff09\u306b\u5bfe\u3059\u308b\u6cbb\u7642\u6cd5\uff08\u907a\u4f1d\u5b50\u6cbb\u7642\u306a\u3069\uff09\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u3001\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u75c7\u72b6\u7ba1\u7406\u3068\u7642\u80b2\u7684\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A4%9A%E8%A7%92%E7%9A%84%E3%81%AA%E3%83%95%E3%82%A9%E3%83%AD%E3%83%BC%E3%82%A2%E3%83%83%E3%83%97%E4%BD%93%E5%88%B6\"><\/span><strong>\u591a\u89d2\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u4f53\u5236<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>BRWS1\u306e\u30b1\u30a2\u306b\u306f\u3001\u4ee5\u4e0b\u306e\u5c02\u9580\u533b\u306b\u3088\u308b\u5b9a\u671f\u7684\u306a\u4ecb\u5165\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><tbody><tr><td><strong>\u8a3a\u7642\u79d1<\/strong><\/td><td><strong>\u4ecb\u5165\u306e\u5185\u5bb9<\/strong><\/td><\/tr><tr><td><strong>\u5c0f\u5150\u795e\u7d4c\u79d1<\/strong><\/td><td>\u3066\u3093\u304b\u3093\u306e\u7ba1\u7406\u3001\u767a\u9054\u8a55\u4fa1\u3001\u8133\u5f62\u614b\u306e\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0<\/td><\/tr><tr><td><strong>\u8033\u9f3b\u54bd\u5589\u79d1<\/strong><\/td><td>\u5b9a\u671f\u7684\u306a\u8074\u529b\u691c\u67fb\u3001\u88dc\u8074\u5668\u3084\u4eba\u5de5\u5185\u8033\u306e\u691c\u8a0e<\/td><\/tr><tr><td><strong>\u773c\u79d1<\/strong><\/td><td>\u8996\u529b\u77ef\u6b63\u3001\u773c\u7403\u7570\u5e38\u306e\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7<\/td><\/tr><tr><td><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u79d1<\/strong><\/td><td>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09<\/td><\/tr><tr><td><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/td><td>\u5bb6\u65cf\u3078\u306e\u75c5\u614b\u8aac\u660e\u3001\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\u306e\u76f8\u8ac7<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%82%E8%82%B2%E3%81%A8%E6%95%99%E8%82%B2%E7%9A%84%E6%94%AF%E6%8F%B4\"><\/span><strong>\u7642\u80b2\u3068\u6559\u80b2\u7684\u652f\u63f4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u4ecb\u5165\u306f\u3001\u60a3\u8005\u306eQOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u5411\u4e0a\u306b\u76f4\u7d50\u3057\u307e\u3059\u3002\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u306b\u5bfe\u3057\u3066\u306f\u3001\u30b5\u30a4\u30f3\u8a00\u8a9e\u3084\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u88dc\u52a9\u5177\uff08AAC\uff09\u306e\u6d3b\u7528\u3082\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u7b4b\u7dca\u5f35\u306e\u7570\u5e38\u3084\u95a2\u7bc0\u62d8\u7e2e\u306b\u5bfe\u3057\u3066\u306f\u3001\u9069\u5207\u306a\u30dd\u30b8\u30b7\u30e7\u30cb\u30f3\u30b0\u3084\u88c5\u5177\u306e\u4f7f\u7528\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E4%BA%88%E5%BE%8C%E3%81%A8%E6%9C%80%E6%96%B0%E3%81%AE%E7%A0%94%E7%A9%B6%E5%8B%95%E5%90%91\"><\/span><strong>5. \u4e88\u5f8c\u3068\u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>BRWS1\u306e\u4e88\u5f8c\u306f\u3001\u5408\u4f75\u3059\u308b\u8133\u5f62\u614b\u7570\u5e38\u306e\u7a0b\u5ea6\u3068\u3066\u3093\u304b\u3093\u306e\u5236\u5fa1\u72b6\u6cc1\u306b\u5927\u304d\u304f\u4f9d\u5b58\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%95%B7%E6%9C%9F%E7%9A%84%E3%81%AA%E5%B1%95%E6%9C%9B\"><\/span><strong>\u9577\u671f\u7684\u306a\u5c55\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u60a3\u8005\u306f\u6210\u4eba\u671f\u307e\u3067\u751f\u5b58\u3057\u307e\u3059\u304c\u3001\u81ea\u7acb\u3057\u305f\u751f\u6d3b\u306b\u306f\u4e00\u5b9a\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u3067\u3059\u3002\u9032\u884c\u6027\u306e\u96e3\u8074\u3084\u3001\u52a0\u9f62\u306b\u4f34\u3046\u95a2\u7bc0\u306e\u554f\u984c\u306b\u6ce8\u610f\u3092\u6255\u3046\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9C%80%E6%96%B0%E3%81%AE%E7%A0%94%E7%A9%B6%EF%BC%9A%E3%82%A2%E3%82%AF%E3%83%81%E3%83%B3%E7%97%85%E3%81%B8%E3%81%AE%E6%96%B0%E3%81%9F%E3%81%AA%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\"><\/span><strong>\u6700\u65b0\u306e\u7814\u7a76\uff1a\u30a2\u30af\u30c1\u30f3\u75c5\u3078\u306e\u65b0\u305f\u306a\u30a2\u30d7\u30ed\u30fc\u30c1<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8fd1\u5e74\u3001\u30a2\u30af\u30c1\u30f3\u7d30\u80de\u9aa8\u683c\u306e\u52d5\u614b\u3092\u5236\u5fa1\u3059\u308b\u5c0f\u5206\u5b50\u5316\u5408\u7269\u306e\u7814\u7a76\u304c\u9032\u3093\u3067\u3044\u307e\u3059\u3002BRWS1\u306e\u3088\u3046\u306a\u300c\u30a2\u30af\u30c1\u30f3\u75c5\uff08Actinopathies\uff09\u300d\u306b\u5bfe\u3057\u3001\u7570\u5e38\u306a\u30a2\u30af\u30c1\u30f3\u91cd\u5408\u3092\u6b63\u5e38\u5316\u3055\u305b\u308b\u6cbb\u7642\u6226\u7565\u304c\u30e2\u30c7\u30eb\u751f\u7269\u30ec\u30d9\u30eb\u3067\u6a21\u7d22\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u5c06\u6765\u7684\u306b\u3001\u5bfe\u75c7\u7642\u6cd5\u3092\u8d85\u3048\u305f\u65b0\u3057\u3044\u6cbb\u7642\u30aa\u30d7\u30b7\u30e7\u30f3\u3068\u306a\u308b\u53ef\u80fd\u6027\u3092\u79d8\u3081\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B5%90%E8%AB%96\"><\/span><strong>\u7d50\u8ad6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Baraitser-Winter\u75c7\u5019\u7fa41\uff08BRWS1\uff09\u306f\u3001ACTB\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u80cc\u666f\u3068\u3057\u305f\u8907\u96d1\u306a\u591a\u7cfb\u7d71\u75be\u60a3\u3067\u3059\u3002\u305d\u306e\u8a3a\u65ad\u306b\u306f\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u306e\u8a8d\u8b58\u3068MRI\u306b\u3088\u308b\u8133\u69cb\u9020\u306e\u8a55\u4fa1\u3001\u305d\u3057\u3066\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308b\u304b\u3089\u3053\u305d\u3001\u6700\u65b0\u306e\u60c5\u5831\u306b\u57fa\u3065\u3044\u305f\u65e9\u671f\u8a3a\u65ad\u3068\u3001\u500b\u3005\u306e\u75c7\u4f8b\u306b\u5fdc\u3058\u305f\u30d1\u30fc\u30bd\u30ca\u30e9\u30a4\u30ba\u3055\u308c\u305f\u30b1\u30a2\u30d7\u30e9\u30f3\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002\u533b\u7642\u5f93\u4e8b\u8005\u3001\u6559\u80b2\u8005\u3001\u305d\u3057\u3066\u5bb6\u65cf\u304c\u9023\u643a\u3057\u3001\u5305\u62ec\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u4f53\u5236\u3092\u7bc9\u304f\u3053\u3068\u304c\u3001\u60a3\u8005\u306e\u53ef\u80fd\u6027\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\u9375\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n","protected":false},"excerpt":{"rendered":"Baraitser-Winter\u75c7\u5019\u7fa41&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/baraitser-winter-syndrome-1-symptom-genetics-diagnosis\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":121568,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122530","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-1392"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122530","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\/122"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=122530"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122530\/revisions"}],"predecessor-version":[{"id":126200,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122530\/revisions\/126200"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/121568"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122530"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122530"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122530"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}