{"id":122837,"date":"2026-01-15T11:13:29","date_gmt":"2026-01-15T02:13:29","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122837"},"modified":"2026-03-27T16:57:10","modified_gmt":"2026-03-27T07:57:10","slug":"chondrodysplasia-punctata-x-linked-dominant-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chondrodysplasia-punctata-x-linked-dominant-guide\/","title":{"rendered":"Chondrodysplasia punctata, X-linked dominant"},"content":{"rendered":"\n<p>\u533b\u7642\u5206\u91ce\u306b\u304a\u3044\u3066\u3001\u9aa8\u7cfb\u7d71\u75be\u60a3\u306e\u8a3a\u65ad\u306f\u975e\u5e38\u306b\u8907\u96d1\u3067\u3042\u308a\u3001\u305d\u306e\u4e2d\u3067\u3082\u300cChondrodysplasia punctata, X-linked dominant\uff08X\u9023\u9396\u512a\u6027\u70b9\u72b6\u8edf\u9aa8\u7570\u5f62\u6210\u75c7\uff1aCDPX2\uff09\u300d\u306f\u3001\u591a\u7cfb\u7d71\u306b\u308f\u305f\u308b\u81e8\u5e8a\u75c7\u72b6\u3092\u5448\u3059\u308b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002\u672c\u75c7\u306f\u5225\u540d\u300c\u30b3\u30f3\u30e9\u30c7\u30a3\u30fb\u30d2\u30e5\u30fc\u30cd\u30eb\u30de\u30f3\u30fb\u30cf\u30c3\u30d7\u30eb\uff08Conradi-H\u00fcnermann-Happle\uff09\u75c7\u5019\u7fa4\u300d\u3068\u3082\u547c\u3070\u308c\u3001\u4e3b\u306b\u5973\u6027\u306b\u767a\u75c7\u3057\u3001\u76ae\u819a\u3001\u9aa8\u683c\u3001\u773c\u3001\u305d\u3057\u3066\u6210\u9577\u904e\u7a0b\u306b\u9855\u8457\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u8a18\u4e8b\u3067\u306f\u3001\u5c02\u9580\u7684\u306a\u77e5\u898b\u306b\u57fa\u3065\u304d\u3001CDPX2\u306e\u75c5\u56e0\u3001\u81e8\u5e8a\u7684\u7279\u5fb4\u3001\u8a3a\u65ad\u30d7\u30ed\u30bb\u30b9\u3001\u305d\u3057\u3066\u6700\u65b0\u306e\u7ba1\u7406\u65b9\u91dd\u306b\u3064\u3044\u3066\u3001\u7db2\u7f85\u7684\u306b\u89e3\u8aac\u3057\u3066\u3044\u304d\u307e\u3059\u3002\u60a3\u8005\u5bb6\u65cf\u3001\u533b\u7642\u5f93\u4e8b\u8005\u3001\u305d\u3057\u3066\u7814\u7a76\u8005\u306e\u65b9\u3005\u306b\u3068\u3063\u3066\u3001\u3053\u306e\u8907\u96d1\u306a\u75be\u60a3\u3092\u6df1\u304f\u7406\u89e3\u3059\u308b\u305f\u3081\u306e\u30ea\u30bd\u30fc\u30b9\u3068\u306a\u308c\u3070\u5e78\u3044\u3067\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\/chondrodysplasia-punctata-x-linked-dominant-guide\/#1_%E9%81%BA%E4%BC%9D%E7%90%86%E5%AD%A6%E7%9A%84%E8%83%8C%E6%99%AF%E3%81%A8%E7%97%85%E5%9B%A0%EF%BC%9AEBP%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%82%B3%E3%83%AC%E3%82%B9%E3%83%86%E3%83%AD%E3%83%BC%E3%83%AB%E4%BB%A3%E8%AC%9D\" >1. \u907a\u4f1d\u7406\u5b66\u7684\u80cc\u666f\u3068\u75c5\u56e0\uff1aEBP\u907a\u4f1d\u5b50\u3068\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u4ee3\u8b1d<\/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\/chondrodysplasia-punctata-x-linked-dominant-guide\/#%E3%82%B3%E3%83%AC%E3%82%B9%E3%83%86%E3%83%AD%E3%83%BC%E3%83%AB%E4%BB%A3%E8%AC%9D%E3%81%AE%E6%AC%A0%E6%90%8D\" >\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u4ee3\u8b1d\u306e\u6b20\u640d<\/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\/chondrodysplasia-punctata-x-linked-dominant-guide\/#X%E9%80%A3%E9%8E%96%E5%84%AA%E6%80%A7%E9%81%BA%E4%BC%9D%E3%81%A8%E3%83%A9%E3%82%A4%E3%82%AA%E3%83%8B%E3%82%BC%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3\" >X\u9023\u9396\u512a\u6027\u907a\u4f1d\u3068\u30e9\u30a4\u30aa\u30cb\u30bc\u30fc\u30b7\u30e7\u30f3<\/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\/chondrodysplasia-punctata-x-linked-dominant-guide\/#2_%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%9A%E5%A4%9A%E7%B3%BB%E7%B5%B1%E3%81%AB%E3%82%8F%E3%81%9F%E3%82%8B%E8%A1%A8%E7%8F%BE%E5%9E%8B\" >2. \u81e8\u5e8a\u7684\u7279\u5fb4\uff1a\u591a\u7cfb\u7d71\u306b\u308f\u305f\u308b\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\/chondrodysplasia-punctata-x-linked-dominant-guide\/#%E7%9A%AE%E8%86%9A%E7%97%87%E7%8A%B6%EF%BC%88Ichthyosiform_erythroderma%EF%BC%89\" >\u76ae\u819a\u75c7\u72b6\uff08Ichthyosiform erythroderma\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\/chondrodysplasia-punctata-x-linked-dominant-guide\/#%E9%AA%A8%E6%A0%BC%E7%95%B0%E5%B8%B8%EF%BC%88Skeletal_dysplasia%EF%BC%89\" >\u9aa8\u683c\u7570\u5e38\uff08Skeletal dysplasia\uff09<\/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\/chondrodysplasia-punctata-x-linked-dominant-guide\/#%E7%9C%BC%E7%A7%91%E7%9A%84%E3%83%BB%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E7%95%B0%E5%B8%B8\" >\u773c\u79d1\u7684\u30fb\u305d\u306e\u4ed6\u306e\u7570\u5e38<\/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\/chondrodysplasia-punctata-x-linked-dominant-guide\/#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. \u8a3a\u65ad\u30d7\u30ed\u30bb\u30b9\u3068\u9451\u5225\u8a3a\u65ad<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chondrodysplasia-punctata-x-linked-dominant-guide\/#%E7%94%9F%E5%8C%96%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\" >\u751f\u5316\u5b66\u7684\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chondrodysplasia-punctata-x-linked-dominant-guide\/#%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\" >\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chondrodysplasia-punctata-x-linked-dominant-guide\/#%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD\" >\u9451\u5225\u8a3a\u65ad<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chondrodysplasia-punctata-x-linked-dominant-guide\/#4_%E7%AE%A1%E7%90%86%E3%81%A8%E6%B2%BB%E7%99%82%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\" >4. \u7ba1\u7406\u3068\u6cbb\u7642\u30a2\u30d7\u30ed\u30fc\u30c1<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chondrodysplasia-punctata-x-linked-dominant-guide\/#%E9%AA%A8%E6%A0%BC%E7%AE%A1%E7%90%86\" >\u9aa8\u683c\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chondrodysplasia-punctata-x-linked-dominant-guide\/#%E7%9C%BC%E7%A7%91%E3%81%8A%E3%82%88%E3%81%B3%E7%9A%AE%E8%86%9A%E7%A7%91%E7%9A%84%E3%82%B1%E3%82%A2\" >\u773c\u79d1\u304a\u3088\u3073\u76ae\u819a\u79d1\u7684\u30b1\u30a2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chondrodysplasia-punctata-x-linked-dominant-guide\/#%E9%81%BA%E4%BC%9D%E3%82%AB%E3%82%A6%E3%83%B3%E3%82%BB%E3%83%AA%E3%83%B3%E3%82%B0\" >\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chondrodysplasia-punctata-x-linked-dominant-guide\/#5_%E4%BA%88%E5%BE%8C%E3%81%A8QOL%EF%BC%88%E7%94%9F%E6%B4%BB%E3%81%AE%E8%B3%AA%EF%BC%89%E3%81%AE%E5%90%91%E4%B8%8A\" >5. \u4e88\u5f8c\u3068QOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u306e\u5411\u4e0a<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chondrodysplasia-punctata-x-linked-dominant-guide\/#%E6%97%A9%E6%9C%9F%E7%99%BA%E8%A6%8B%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\" >\u65e9\u671f\u767a\u898b\u306e\u91cd\u8981\u6027<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chondrodysplasia-punctata-x-linked-dominant-guide\/#%E6%9C%80%E6%96%B0%E3%81%AE%E7%A0%94%E7%A9%B6%E5%8B%95%E5%90%91\" >\u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chondrodysplasia-punctata-x-linked-dominant-guide\/#%E7%B5%90%E3%81%B3%E3%81%AB%E4%BB%A3%E3%81%88%E3%81%A6%EF%BC%9A%E5%8C%85%E6%8B%AC%E7%9A%84%E3%81%AA%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88%E4%BD%93%E5%88%B6%E3%81%AE%E6%A7%8B%E7%AF%89\" >\u7d50\u3073\u306b\u4ee3\u3048\u3066\uff1a\u5305\u62ec\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u4f53\u5236\u306e\u69cb\u7bc9<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E9%81%BA%E4%BC%9D%E7%90%86%E5%AD%A6%E7%9A%84%E8%83%8C%E6%99%AF%E3%81%A8%E7%97%85%E5%9B%A0%EF%BC%9AEBP%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%82%B3%E3%83%AC%E3%82%B9%E3%83%86%E3%83%AD%E3%83%BC%E3%83%AB%E4%BB%A3%E8%AC%9D\"><\/span><strong>1. \u907a\u4f1d\u7406\u5b66\u7684\u80cc\u666f\u3068\u75c5\u56e0\uff1aEBP\u907a\u4f1d\u5b50\u3068\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u4ee3\u8b1d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CDPX2\u306e\u6839\u6e90\u306f\u3001X\u67d3\u8272\u4f53\uff08Xp11.23\uff09\u4e0a\u306b\u4f4d\u7f6e\u3059\u308b<strong>EBP\u907a\u4f1d\u5b50<\/strong>\uff08Emopamil Binding Protein\u907a\u4f1d\u5b50\uff09\u306e\u75c5\u539f\u6027\u5909\u7570\u306b\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u751f\u5408\u6210\u7d4c\u8def\u306e\u5f8c\u671f\u6bb5\u968e\u306b\u304a\u3044\u3066\u30013\u03b2-\u30d2\u30c9\u30ed\u30ad\u30b7\u30b9\u30c6\u30ed\u30a4\u30c9-\u03948,\u03947-\u30a4\u30bd\u30e1\u30e9\u30fc\u30bc\u3068\u3044\u3046\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%B3%E3%83%AC%E3%82%B9%E3%83%86%E3%83%AD%E3%83%BC%E3%83%AB%E4%BB%A3%E8%AC%9D%E3%81%AE%E6%AC%A0%E6%90%8D\"><\/span><strong>\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u4ee3\u8b1d\u306e\u6b20\u640d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>EBP\u9175\u7d20\u306e\u6a5f\u80fd\u304c\u4f4e\u4e0b\u307e\u305f\u306f\u6d88\u5931\u3059\u308b\u3068\u3001\u4f53\u5185\u306e\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u5408\u6210\u304c\u963b\u5bb3\u3055\u308c\u3001\u4ee3\u308f\u308a\u306b\u4e2d\u9593\u4ee3\u8b1d\u7523\u7269\u3067\u3042\u308b<strong>8-\u30c7\u30d2\u30c9\u30ed\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\uff088-DHC\uff09\u3084\u30e9\u30c8\u30b9\u30c6\u30ed\u30fc\u30eb<\/strong>\u304c\u7d44\u7e54\u5185\u306b\u84c4\u7a4d\u3057\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u7570\u5e38\u306a\u30b9\u30c6\u30ed\u30fc\u30eb\u4ee3\u8b1d\u7523\u7269\u304c\u3001\u767a\u751f\u904e\u7a0b\u306b\u304a\u3051\u308b\u9aa8\u5f62\u6210\u3084\u76ae\u819a\u306e\u89d2\u5316\u3001\u6c34\u6676\u4f53\u306e\u900f\u660e\u5ea6\u7dad\u6301\u306b\u60aa\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"X%E9%80%A3%E9%8E%96%E5%84%AA%E6%80%A7%E9%81%BA%E4%BC%9D%E3%81%A8%E3%83%A9%E3%82%A4%E3%82%AA%E3%83%8B%E3%82%BC%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3\"><\/span><strong>X\u9023\u9396\u512a\u6027\u907a\u4f1d\u3068\u30e9\u30a4\u30aa\u30cb\u30bc\u30fc\u30b7\u30e7\u30f3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u672c\u75c7\u306fX\u9023\u9396\u512a\u6027\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002\u5973\u6027\u306f2\u672c\u306eX\u67d3\u8272\u4f53\u3092\u6301\u3063\u3066\u3044\u308b\u305f\u3081\u3001\u4e00\u65b9\u306b\u5909\u7570\u304c\u3042\u3063\u3066\u3082\u751f\u5b58\u53ef\u80fd\u3067\u3059\u304c\u3001\u7537\u6027\uff08X\u67d3\u8272\u4f53\u304c1\u672c\uff09\u306e\u5834\u5408\u306f\u901a\u5e38\u3001\u80da\u6bb5\u968e\u3067\u81f4\u6b7b\u7684\u3068\u306a\u308a\u307e\u3059\uff08\u305f\u3060\u3057\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/klinefelter-syndrome\/\">\u30af\u30e9\u30a4\u30f3\u30d5\u30a7\u30eb\u30bf\u30fc\u75c7\u5019\u7fa4<\/a>\u3084\u4f53\u7d30\u80de<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u306e\u7537\u6027\u4f8b\u3082\u7a00\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\uff09\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u5973\u6027\u60a3\u8005\u306b\u304a\u3044\u3066\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u306b\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u3042\u308b\u306e\u306f\u3001X\u67d3\u8272\u4f53\u306e\u4e0d\u6d3b\u5316\uff08\u30e9\u30a4\u30aa\u30cb\u30bc\u30fc\u30b7\u30e7\u30f3\uff09\u304c\u30e9\u30f3\u30c0\u30e0\u306b\u8d77\u3053\u308b\u305f\u3081\u3067\u3059\u3002\u5909\u7570\u306e\u3042\u308bX\u67d3\u8272\u4f53\u304c\u6d3b\u6027\u5316\u3057\u3066\u3044\u308b\u7d30\u80de\u306e\u5272\u5408\u304c\u9ad8\u3044\u7d44\u7e54\u307b\u3069\u3001\u75c7\u72b6\u304c\u91cd\u304f\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%9A%E5%A4%9A%E7%B3%BB%E7%B5%B1%E3%81%AB%E3%82%8F%E3%81%9F%E3%82%8B%E8%A1%A8%E7%8F%BE%E5%9E%8B\"><\/span><strong>2. \u81e8\u5e8a\u7684\u7279\u5fb4\uff1a\u591a\u7cfb\u7d71\u306b\u308f\u305f\u308b\u8868\u73fe\u578b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CDPX2\u306e\u81e8\u5e8a\u50cf\u306f\u975e\u5e38\u306b\u591a\u5f69\u3067\u3042\u308a\u3001\u65b0\u751f\u5150\u671f\u304b\u3089\u4e73\u5e7c\u5150\u671f\u306b\u304b\u3051\u3066\u9855\u8457\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9A%AE%E8%86%9A%E7%97%87%E7%8A%B6%EF%BC%88Ichthyosiform_erythroderma%EF%BC%89\"><\/span><strong>\u76ae\u819a\u75c7\u72b6\uff08Ichthyosiform erythroderma\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u3001\u9b5a\u9c57\u766c\u69d8\u306e\u7d05\u76ae\u75c7\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u3053\u308c\u306f\u3057\u3070\u3057\u3070\u300c\u7dda\u72b6\u300d\u307e\u305f\u306f\u300c\u6e26\u5dfb\u72b6\u300d\u306e\u5206\u5e03\uff08\u30d6\u30e9\u30b7\u30e5\u30b3\u7dda\u306b\u6cbf\u3063\u305f\u5206\u5e03\uff09\u3092\u793a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65b0\u751f\u5150\u671f:<\/strong> \u6fc0\u3057\u3044\u708e\u75c7\u3068\u843d\u5c51\u3092\u4f34\u3046\u7d05\u76ae\u75c7\u3002<\/li>\n\n\n\n<li><strong>\u6162\u6027\u671f:<\/strong> \u6210\u9577\u3068\u3068\u3082\u306b\u7d05\u76ae\u75c7\u306f\u6539\u5584\u3057\u307e\u3059\u304c\u3001\u305d\u306e\u5f8c\u306b\u306f\u76ae\u819a\u306e\u840e\u7e2e\uff08\u30a2\u30c8\u30dd\u30c7\u30eb\u30de\uff09\u3084\u3001\u6bdb\u5305\u5468\u56f2\u306e\u89d2\u5316\u3001\u6591\u72b6\u306e\u8131\u6bdb\uff08\u7622\u75d5\u6027\u8131\u6bdb\u75c7\uff09\u304c\u6b8b\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%AA%A8%E6%A0%BC%E7%95%B0%E5%B8%B8%EF%BC%88Skeletal_dysplasia%EF%BC%89\"><\/span><strong>\u9aa8\u683c\u7570\u5e38\uff08Skeletal dysplasia\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u672c\u75be\u60a3\u306e\u540d\u79f0\u306e\u7531\u6765\u3067\u3082\u3042\u308b\u300c\u70b9\u72b6\u8edf\u9aa8\u7570\u5f62\u6210\u300d\u304c\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u70b9\u72b6\u77f3\u7070\u5316\uff08Stippled epiphyses\uff09:<\/strong> X\u7dda\u691c\u67fb\u306b\u304a\u3044\u3066\u3001\u9577\u7ba1\u9aa8\u306e\u9aa8\u7aef\u3084\u810a\u690e\u3001\u624b\u6839\u9aa8\u306a\u3069\u306b\u3001\u70b9\u72b6\u306e\u77f3\u7070\u5316\uff08\u30b9\u30bf\u30fc\u30c0\u30b9\u30c8\u69d8\uff09\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u901a\u5e38\u3001\u4e73\u5e7c\u5150\u671f\u3092\u904e\u304e\u308b\u3068\u6d88\u5931\u3057\u3001\u6b63\u5e38\u306a\u9aa8\u5316\u306b\u7f6e\u304d\u63db\u308f\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u975e\u5bfe\u79f0\u6027\u306e\u80a2\u77ed\u7e2e:<\/strong> \u5de6\u53f3\u975e\u5bfe\u79f0\u306a\u56db\u80a2\u306e\u77ed\u7e2e\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u3053\u308c\u304c\u810a\u67f1\u5074\u5f2f\u75c7\u306e\u539f\u56e0\u3068\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9C%BC%E7%A7%91%E7%9A%84%E3%83%BB%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E7%95%B0%E5%B8%B8\"><\/span><strong>\u773c\u79d1\u7684\u30fb\u305d\u306e\u4ed6\u306e\u7570\u5e38<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767d\u5185\u969c:<\/strong> \u975e\u5bfe\u79f0\u6027\u307e\u305f\u306f\u7247\u5074\u6027\u306e\u5148\u5929\u6027\u767d\u5185\u969c\u304c\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9854\u8c8c\u306e\u7279\u5fb4:<\/strong> \u9f3b\u6839\u90e8\u306e\u5e73\u5766\u5316\uff08\u978d\u9f3b\uff09\u3084\u3001\u524d\u982d\u90e8\u306e\u7a81\u51fa\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\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\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>CDPX2\u306e\u8a3a\u65ad\u306b\u306f\u3001\u81e8\u5e8a\u6240\u898b\u3001\u653e\u5c04\u7dda\u5b66\u7684\u6240\u898b\u3001\u305d\u3057\u3066\u751f\u5316\u5b66\u30fb\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306e\u7d71\u5408\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%9F%E5%8C%96%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u751f\u5316\u5b66\u7684\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306e\u9375\u3068\u306a\u308b\u306e\u306f\u3001\u8840\u6f3f\u3084\u7d44\u7e54\u4e2d\u306b\u304a\u3051\u308b\u30b9\u30c6\u30ed\u30fc\u30eb\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\u306e\u5206\u6790\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>GC-MS\uff08\u30ac\u30b9\u30af\u30ed\u30de\u30c8\u30b0\u30e9\u30d5\u30a3\u30fc\u8cea\u91cf\u5206\u6790\uff09:<\/strong> \u8840\u4e2d\u306e8-\u30c7\u30d2\u30c9\u30ed\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\uff088-DHC\uff09\u304a\u3088\u3073\u30e9\u30c8\u30b9\u30c6\u30ed\u30fc\u30eb\u306e\u6fc3\u5ea6\u4e0a\u6607\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u3053\u308c\u306fEBP\u9175\u7d20\u306e\u6b20\u640d\u3092\u76f4\u63a5\u7684\u306b\u793a\u5506\u3059\u308b\u6307\u6a19\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\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>EBP\u907a\u4f1d\u5b50\u306e\u5909\u7570\u89e3\u6790\u3092\u884c\u3044\u307e\u3059\u3002\u73fe\u5728\u3067\u306f\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u3092\u7528\u3044\u305f\u5305\u62ec\u7684\u306a\u9aa8\u7cfb\u7d71\u75be\u60a3\u30d1\u30cd\u30eb\u691c\u67fb\u304c\u4e00\u822c\u5316\u3057\u3066\u304a\u308a\u3001\u65e9\u671f\u306e\u78ba\u5b9a\u8a3a\u65ad\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD\"><\/span><strong>\u9451\u5225\u8a3a\u65ad<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u70b9\u72b6\u8edf\u9aa8\u7570\u5f62\u6210\uff08Chondrodysplasia punctata\uff09\u3092\u5448\u3059\u308b\u75be\u60a3\u306f\u4ed6\u306b\u3082\u5b58\u5728\u3059\u308b\u305f\u3081\u3001\u4ee5\u4e0b\u306e\u75be\u60a3\u3068\u306e\u9451\u5225\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u6839\u8fd1\u4f4d\u578b\u70b9\u72b6\u8edf\u9aa8\u7570\u5f62\u6210\u75c7\uff08RCDP\uff09:<\/strong> \u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u7570\u5e38\u75c7\u306e\u4e00\u3064\u3002\u4e88\u5f8c\u304c\u975e\u5e38\u306b\u4e0d\u826f\u3067\u3001\u8fd1\u4f4d\u80a2\u306e\u8457\u660e\u306a\u77ed\u7e2e\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30ef\u30fc\u30d5\u30a1\u30ea\u30f3\u80ce\u82bd\u75c7:<\/strong> \u598a\u5a20\u4e2d\u306e\u30ef\u30fc\u30d5\u30a1\u30ea\u30f3\u670d\u7528\u306b\u3088\u308b\u85ac\u5264\u6027\u3002<\/li>\n\n\n\n<li><strong>CDPX1\uff08X\u9023\u9396\u52a3\u6027\u30bf\u30a4\u30d7\uff09:<\/strong> ARSE\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3002\u4e3b\u306b\u7537\u6027\u306b\u767a\u75c7\u3057\u3001\u9f3b\u306e\u4f4e\u5f62\u6210\u304c\u9855\u8457\u3067\u3059\u3002<\/li>\n<\/ol>\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\/34009749_s.webp\" alt=\"\u533b\u8005\" class=\"wp-image-122675\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E7%AE%A1%E7%90%86%E3%81%A8%E6%B2%BB%E7%99%82%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\"><\/span><strong>4. \u7ba1\u7406\u3068\u6cbb\u7642\u30a2\u30d7\u30ed\u30fc\u30c1<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u6642\u70b9\u3067\u3001CDPX2\u306e\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u6cbb\u7642\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u3001\u591a\u8077\u7a2e\u9023\u643a\uff08\u30de\u30eb\u30c1\u30c7\u30a3\u30b7\u30d7\u30ea\u30ca\u30ea\u30fc\u30fb\u30a2\u30d7\u30ed\u30fc\u30c1\uff09\u306b\u3088\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u5408\u4f75\u75c7\u306e\u7ba1\u7406\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=\"%E9%AA%A8%E6%A0%BC%E7%AE%A1%E7%90%86\"><\/span><strong>\u9aa8\u683c\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6574\u5f62\u5916\u79d1\u7684\u4ecb\u5165:<\/strong> \u80a2\u683c\u5dee\u304c\u8457\u3057\u3044\u5834\u5408\u306e\u88dc\u9ad8\u9774\u306e\u4f7f\u7528\u3001\u3042\u308b\u3044\u306f\u810a\u67f1\u5074\u5f2f\u75c7\u306b\u5bfe\u3059\u308b\u88c5\u5177\u7642\u6cd5\u3084\u624b\u8853\u691c\u8a0e\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u7684\u306aX\u7dda\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7:<\/strong> \u6210\u9577\u306b\u4f34\u3046\u9aa8\u5909\u5f62\u306e\u9032\u884c\u3092\u76e3\u8996\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9C%BC%E7%A7%91%E3%81%8A%E3%82%88%E3%81%B3%E7%9A%AE%E8%86%9A%E7%A7%91%E7%9A%84%E3%82%B1%E3%82%A2\"><\/span><strong>\u773c\u79d1\u304a\u3088\u3073\u76ae\u819a\u79d1\u7684\u30b1\u30a2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767d\u5185\u969c\u624b\u8853:<\/strong> \u8996\u529b\u767a\u9054\u3092\u5b88\u308b\u305f\u3081\u3001\u65e9\u671f\u306e\u767d\u5185\u969c\u624b\u8853\u3068\u8996\u80fd\u8a13\u7df4\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30b9\u30ad\u30f3\u30b1\u30a2:<\/strong> \u9b5a\u9c57\u766c\u69d8\u306e\u75c7\u72b6\u306b\u5bfe\u3057\u3066\u306f\u3001\u4fdd\u6e7f\u5264\u3084\u89d2\u8cea\u6eb6\u89e3\u5264\u3092\u7528\u3044\u305f\u7d99\u7d9a\u7684\u306a\u30b1\u30a2\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E3%82%AB%E3%82%A6%E3%83%B3%E3%82%BB%E3%83%AA%E3%83%B3%E3%82%B0\"><\/span><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CDPX2\u3068\u8a3a\u65ad\u3055\u308c\u305f\u5834\u5408\u3001\u5bb6\u65cf\u3078\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306f\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002\u6b21\u5b50\u3078\u306e\u907a\u4f1d\u78ba\u7387\u3084\u3001\u6bcd\u89aa\u304c\u8efd\u5fae\u306a\u75c7\u72b6\u3092\u6301\u3064\u30ad\u30e3\u30ea\u30a2\u3067\u3042\u308b\u53ef\u80fd\u6027\u306b\u3064\u3044\u3066\u3001\u5c02\u9580\u5bb6\u306b\u3088\u308b\u9069\u5207\u306a\u60c5\u5831\u63d0\u4f9b\u304c\u6c42\u3081\u3089\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%A8QOL%EF%BC%88%E7%94%9F%E6%B4%BB%E3%81%AE%E8%B3%AA%EF%BC%89%E3%81%AE%E5%90%91%E4%B8%8A\"><\/span><strong>5. \u4e88\u5f8c\u3068QOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u306e\u5411\u4e0a<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CDPX2\u306e\u4e88\u5f8c\u306f\u3001\u5408\u4f75\u75c7\u306e\u91cd\u75c7\u5ea6\u3001\u7279\u306b\u547c\u5438\u5668\u7cfb\u3078\u306e\u5f71\u97ff\u3084\u810a\u67f1\u5909\u5f62\u306e\u7a0b\u5ea6\u306b\u5de6\u53f3\u3055\u308c\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u591a\u304f\u306e\u60a3\u8005\u306f\u77e5\u7684\u767a\u9054\u304c\u6b63\u5e38\u3067\u3042\u308a\u3001\u9069\u5207\u306a\u533b\u7642\u4ecb\u5165\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u81ea\u7acb\u3057\u305f\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%97%A9%E6%9C%9F%E7%99%BA%E8%A6%8B%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\"><\/span><strong>\u65e9\u671f\u767a\u898b\u306e\u91cd\u8981\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u65b0\u751f\u5150\u671f\u306e\u76ae\u819a\u75c7\u72b6\u304b\u3089\u672c\u75c7\u3092\u7591\u3044\u3001\u65e9\u671f\u306b\u30b9\u30c6\u30ed\u30fc\u30eb\u5206\u6790\u3092\u884c\u3046\u3053\u3068\u306f\u3001\u4e0d\u5fc5\u8981\u306a\u691c\u67fb\u3092\u907f\u3051\u3001\u9069\u5207\u306a\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3084\u6cbb\u7642\u8a08\u753b\u3092\u7acb\u3066\u308b\u4e0a\u3067\u6c7a\u5b9a\u7684\u306a\u610f\u5473\u3092\u6301\u3061\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%E5%8B%95%E5%90%91\"><\/span><strong>\u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8fd1\u5e74\u3067\u306f\u3001\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u4ee3\u8b1d\u3092\u88dc\u52a9\u3059\u308b\u5c40\u6240\u7642\u6cd5\u306e\u7814\u7a76\u3084\u3001EBP\u6a5f\u80fd\u4e0d\u5168\u304c\u7d30\u80de\u5185\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306b\u53ca\u307c\u3059\u5f71\u97ff\u306e\u89e3\u660e\u304c\u9032\u3093\u3067\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u7814\u7a76\u304c\u3001\u5c06\u6765\u7684\u306a\u65b0\u3057\u3044\u6cbb\u7642\u9078\u629e\u80a2\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u671f\u5f85\u3055\u308c\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%E3%81%B3%E3%81%AB%E4%BB%A3%E3%81%88%E3%81%A6%EF%BC%9A%E5%8C%85%E6%8B%AC%E7%9A%84%E3%81%AA%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88%E4%BD%93%E5%88%B6%E3%81%AE%E6%A7%8B%E7%AF%89\"><\/span><strong>\u7d50\u3073\u306b\u4ee3\u3048\u3066\uff1a\u5305\u62ec\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u4f53\u5236\u306e\u69cb\u7bc9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Chondrodysplasia punctata, X-linked dominant\u306f\u3001\u305d\u306e\u5e0c\u5c11\u6027\u3086\u3048\u306b\u8a3a\u65ad\u307e\u3067\u306b\u6642\u9593\u3092\u8981\u3059\u308b\u5834\u5408\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u76ae\u819a\u3001\u9aa8\u3001\u773c\u3068\u3044\u3046\u7570\u306a\u308b\u9818\u57df\u306e\u75c7\u72b6\u3092\u4e00\u3064\u306e\u75be\u60a3\u3068\u3057\u3066\u6349\u3048\u308b\u300c\u5c02\u9580\u533b\u306e\u8996\u70b9\u300d\u304c\u3042\u308c\u3070\u3001\u65e9\u671f\u8a3a\u65ad\u306f\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u60a3\u8005\u3055\u3093\u3068\u305d\u306e\u3054\u5bb6\u65cf\u304c\u3001\u3053\u306e\u75be\u60a3\u3068\u5171\u306b\u6b69\u3093\u3067\u3044\u304f\u305f\u3081\u306b\u306f\u3001\u533b\u7642\u6a5f\u95a2\u3060\u3051\u3067\u306a\u304f\u3001\u5b66\u6821\u3001\u5730\u57df\u3001\u305d\u3057\u3066\u540c\u3058\u75be\u60a3\u3092\u6301\u3064\u60a3\u8005\u4f1a\u3068\u306e\u3064\u306a\u304c\u308a\u304c\u5927\u304d\u306a\u652f\u3048\u3068\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u8a18\u4e8b\u304c\u3001CDPX2\u3078\u306e\u7406\u89e3\u3092\u6df1\u3081\u308b\u4e00\u52a9\u3068\u306a\u308a\u3001\u3088\u308a\u826f\u3044\u7642\u80b2\u74b0\u5883\u306e\u69cb\u7bc9\u306b\u5bc4\u4e0e\u3059\u308b\u3053\u3068\u3092\u9858\u3063\u3066\u6b62\u307f\u307e\u305b\u3093\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":"\u533b\u7642\u5206\u91ce\u306b\u304a\u3044\u3066\u3001\u9aa8\u7cfb\u7d71\u75be\u60a3\u306e\u8a3a\u65ad\u306f\u975e\u5e38&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chondrodysplasia-punctata-x-linked-dominant-guide\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":122507,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122837","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\/122837","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=122837"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122837\/revisions"}],"predecessor-version":[{"id":126218,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122837\/revisions\/126218"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/122507"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122837"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122837"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122837"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}