{"id":122874,"date":"2026-01-15T12:46:37","date_gmt":"2026-01-15T03:46:37","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122874"},"modified":"2026-03-27T17:16:05","modified_gmt":"2026-03-27T08:16:05","slug":"cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/","title":{"rendered":"Cornelia de Lange syndrome 3"},"content":{"rendered":"\n<p>\u300c\u30b3\u30fc\u30cd\u30eb\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\u75c7\u5019\u7fa4\uff08CdLS\uff09\u300d\u306e\u4e2d\u3067\u3001<strong>SMC3\u907a\u4f1d\u5b50<\/strong>\u306e\u5909\u7570\u306b\u8d77\u56e0\u3059\u308b\u30bf\u30a4\u30d7\u304c\u300cCornelia de Lange syndrome 3\uff08CdLS3\uff09\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>CdLS3\u306f\u3001\u5168\u75c7\u4f8b\u306e\u7d041\u301c2%\u7a0b\u5ea6\u3068\u975e\u5e38\u306b\u7a00\u306a\u30b5\u30d6\u30bf\u30a4\u30d7\u3067\u3059\u304c\u3001\u6700\u3082\u4e00\u822c\u7684\u306a1\u578b\uff08NIPBL\u5909\u7570\uff09\u3068\u6bd4\u8f03\u3057\u3066\u3001\u8eab\u4f53\u75c7\u72b6\u3084\u77e5\u7684\u767a\u9054\u306e\u9045\u6ede\u304c\u6bd4\u8f03\u7684\u300c\u8efd\u75c7\uff08\u30de\u30a4\u30eb\u30c9\uff09\u300d\u3067\u3042\u308b\u3068\u3044\u3046\u7279\u5fb4\u3092\u6301\u3061\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u300c\u975e\u53e4\u5178\u7684\uff08Non-classic\uff09CdLS\u300d\u306e\u4ee3\u8868\u7684\u306a\u75be\u60a3\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u898b\u9003\u3055\u308c\u3084\u3059\u3044\u81e8\u5e8a\u50cf\u3092\u6b63\u78ba\u306b\u628a\u63e1\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\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\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#1_%E9%81%BA%E4%BC%9D%E7%90%86%E5%AD%A6%E7%9A%84%E8%83%8C%E6%99%AF%EF%BC%9ASMC3%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%82%B3%E3%83%92%E3%83%BC%E3%82%B7%E3%83%B3%E3%83%AA%E3%83%B3%E3%82%B0\" >1. \u907a\u4f1d\u7406\u5b66\u7684\u80cc\u666f\uff1aSMC3\u907a\u4f1d\u5b50\u3068\u30b3\u30d2\u30fc\u30b7\u30f3\u30ea\u30f3\u30b0<\/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\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#SMC3%E3%82%BF%E3%83%B3%E3%83%91%E3%82%AF%E8%B3%AA%E3%81%AE%E6%A9%9F%E8%83%BD\" >SMC3\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u6a5f\u80fd<\/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\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F\" >\u907a\u4f1d\u5f62\u5f0f<\/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\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#2_%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%9A%E3%83%9E%E3%82%A4%E3%83%AB%E3%83%89%E3%81%AA%E3%80%8C%E9%9D%9E%E5%8F%A4%E5%85%B8%E7%9A%84%E3%80%8D%E8%A1%A8%E7%8F%BE%E5%9E%8B\" >2. \u81e8\u5e8a\u7684\u7279\u5fb4\uff1a\u30de\u30a4\u30eb\u30c9\u306a\u300c\u975e\u53e4\u5178\u7684\u300d\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\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#%E9%A1%94%E8%B2%8C%E3%81%AE%E7%89%B9%E5%BE%B4\" >\u9854\u8c8c\u306e\u7279\u5fb4<\/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\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#%E9%AA%A8%E6%A0%BC%E3%81%8A%E3%82%88%E3%81%B3%E8%BA%AB%E4%BD%93%E7%9A%84%E6%89%80%E8%A6%8B\" >\u9aa8\u683c\u304a\u3088\u3073\u8eab\u4f53\u7684\u6240\u898b<\/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\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#%E7%99%BA%E9%81%94%E3%81%A8%E7%9F%A5%E7%9A%84%E6%A9%9F%E8%83%BD\" >\u767a\u9054\u3068\u77e5\u7684\u6a5f\u80fd<\/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\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#3_%E8%A8%BA%E6%96%AD%E3%81%A8%E5%88%86%E5%AD%90%E6%A8%99%E7%9A%84%E6%A4%9C%E6%9F%BB\" >3. \u8a3a\u65ad\u3068\u5206\u5b50\u6a19\u7684\u691c\u67fb<\/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\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#%E8%87%A8%E5%BA%8A%E3%82%B9%E3%82%B3%E3%82%A2%E3%83%AA%E3%83%B3%E3%82%B0%E3%81%AE%E8%AA%B2%E9%A1%8C\" >\u81e8\u5e8a\u30b9\u30b3\u30a2\u30ea\u30f3\u30b0\u306e\u8ab2\u984c<\/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\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E3%83%91%E3%83%8D%E3%83%AB%E6%A4%9C%E6%9F%BB%E3%81%AE%E5%BD%B9%E5%89%B2\" >\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u306e\u5f79\u5272<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#4_%E7%AE%A1%E7%90%86%E3%81%A8%E6%B2%BB%E7%99%82%E6%96%B9%E9%87%9D%EF%BC%9AQOL%E3%81%AE%E6%9C%80%E5%A4%A7%E5%8C%96%E3%82%92%E7%9B%AE%E6%8C%87%E3%81%97%E3%81%A6\" >4. \u7ba1\u7406\u3068\u6cbb\u7642\u65b9\u91dd\uff1aQOL\u306e\u6700\u5927\u5316\u3092\u76ee\u6307\u3057\u3066<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#%E7%99%82%E8%82%B2%E3%81%A8%E6%95%99%E8%82%B2%EF%BC%88%E6%9C%80%E5%84%AA%E5%85%88%EF%BC%89\" >\u7642\u80b2\u3068\u6559\u80b2\uff08\u6700\u512a\u5148\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AE%E3%82%B9%E3%82%AF%E3%83%AA%E3%83%BC%E3%83%8B%E3%83%B3%E3%82%B0%EF%BC%88CdLS%E5%85%B1%E9%80%9A%EF%BC%89\" >\u5408\u4f75\u75c7\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff08CdLS\u5171\u901a\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#5_%E4%BA%88%E5%BE%8C%E3%81%A8%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\" >5. \u4e88\u5f8c\u3068\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#%E7%A4%BE%E4%BC%9A%E7%9A%84%E9%81%A9%E5%BF%9C\" >\u793e\u4f1a\u7684\u9069\u5fdc<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-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-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#%E7%B5%90%E8%AB%96%EF%BC%9A%E9%9D%9E%E5%8F%A4%E5%85%B8%E7%9A%84%E3%81%AA%E5%80%8B%E6%80%A7%E3%81%AB%E5%85%89%E3%82%92%E5%BD%93%E3%81%A6%E3%82%8B\" >\u7d50\u8ad6\uff1a\u975e\u53e4\u5178\u7684\u306a\u500b\u6027\u306b\u5149\u3092\u5f53\u3066\u308b<\/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%EF%BC%9ASMC3%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%82%B3%E3%83%92%E3%83%BC%E3%82%B7%E3%83%B3%E3%83%AA%E3%83%B3%E3%82%B0\"><\/span><strong>1. \u907a\u4f1d\u7406\u5b66\u7684\u80cc\u666f\uff1aSMC3\u907a\u4f1d\u5b50\u3068\u30b3\u30d2\u30fc\u30b7\u30f3\u30ea\u30f3\u30b0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CdLS3\u306f\u3001\u67d3\u8272\u4f53\u306e\u69cb\u9020\u7dad\u6301\u3068\u907a\u4f1d\u5b50\u767a\u73fe\u8abf\u7bc0\u3092\u62c5\u3046\u300c\u30b3\u30d2\u30fc\u30b7\u30f3\u8907\u5408\u4f53\u300d\u306e\u76f4\u63a5\u7684\u306a\u69cb\u6210\u8981\u7d20\u306e\u7570\u5e38\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"SMC3%E3%82%BF%E3%83%B3%E3%83%91%E3%82%AF%E8%B3%AA%E3%81%AE%E6%A9%9F%E8%83%BD\"><\/span><strong>SMC3\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u6a5f\u80fd<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7b2c10\u67d3\u8272\u4f53\uff0810q25.2\uff09\u306b\u4f4d\u7f6e\u3059\u308b<strong>SMC3\u907a\u4f1d\u5b50<\/strong>\u306f\u3001SMC1A\u3068\u3068\u3082\u306b\u30b3\u30d2\u30fc\u30b7\u30f3\u30ea\u30f3\u30b0\u306e\u300c\u9aa8\u683c\u300d\u3092\u5f62\u6210\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5206\u5b50\u30e1\u30ab\u30cb\u30ba\u30e0:<\/strong> SMC3\u306fSMC1A\u3068\u7d50\u5408\u3057\u3066\u5de8\u5927\u306aV\u5b57\u578b\u306e\u69cb\u9020\u3092\u4f5c\u308a\u3001\u305d\u3053\u306bRAD21\u304c\u84cb\u3092\u3059\u308b\u3053\u3068\u3067DNA\u3092\u56f2\u3044\u8fbc\u307f\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5909\u7570\u306e\u6027\u8cea:<\/strong> CdLS3\u3067\u898b\u3089\u308c\u308b\u5909\u7570\u306e\u591a\u304f\u306f\u300c\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u300d\u3084\u300c\u30a4\u30f3\u30d5\u30ec\u30fc\u30e0\u6b20\u5931\u300d\u3067\u3059\u3002SMC1A\uff082\u578b\uff09\u3068\u540c\u69d8\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u6a5f\u80fd\u3092\u5b8c\u5168\u306b\u5931\u3046\uff08\u30cc\u30eb\u5909\u7570\uff09\u3068\u80da\u81f4\u6b7b\u3068\u306a\u308b\u305f\u3081\u3001\u81e8\u5e8a\u7684\u306b\u78ba\u8a8d\u3055\u308c\u308b\u60a3\u8005\u3055\u3093\u306f\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u69cb\u9020\u304c\u308f\u305a\u304b\u306b\u5909\u5316\u3057\u305f\u72b6\u614b\u306b\u3042\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%BD%A2%E5%BC%8F\"><\/span><strong>\u907a\u4f1d\u5f62\u5f0f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d:<\/strong> \u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo mutation\uff09\u3068\u3057\u3066\u767a\u751f\u3057\u307e\u3059\u3002\u89aa\u306b\u75c7\u72b6\u304c\u306a\u304f\u3001\u5b50\u306b\u306e\u307f\u5909\u7570\u304c\u8a8d\u3081\u3089\u308c\u308b\u30b1\u30fc\u30b9\u304c\u4e00\u822c\u7684\u3067\u3059\u304c\u3001\u7a00\u306b\u4f53\u7d30\u80de<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u306e\u89aa\u304b\u3089\u907a\u4f1d\u3059\u308b\u53ef\u80fd\u6027\u3082\u8003\u616e\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\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%E3%83%9E%E3%82%A4%E3%83%AB%E3%83%89%E3%81%AA%E3%80%8C%E9%9D%9E%E5%8F%A4%E5%85%B8%E7%9A%84%E3%80%8D%E8%A1%A8%E7%8F%BE%E5%9E%8B\"><\/span><strong>2. \u81e8\u5e8a\u7684\u7279\u5fb4\uff1a\u30de\u30a4\u30eb\u30c9\u306a\u300c\u975e\u53e4\u5178\u7684\u300d\u8868\u73fe\u578b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CdLS3\u306f\u3001CdLS1\u306e\u93e1\u50cf\u306e\u3088\u3046\u306a\u5b58\u5728\u3067\u3042\u308a\u3001\u7279\u5fb4\u304c\u63a7\u3048\u3081\u3067\u3042\u308b\u3053\u3068\u304c\u8a3a\u65ad\u4e0a\u306e\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A1%94%E8%B2%8C%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>\u9854\u8c8c\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CdLS1\u306b\u898b\u3089\u308c\u308b\u300c\u7e4b\u304c\u3063\u305f\u7709\uff08\u7709\u6bdb\u7652\u5408\uff09\u300d\u3084\u300c\u9577\u3044\u776b\u6bdb\u300d\u306a\u3069\u306e\u7279\u5fb4\u306f\u5099\u3048\u3066\u3044\u307e\u3059\u304c\u3001\u5168\u4f53\u7684\u306b\u30de\u30a4\u30eb\u30c9\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7709\u6bdb:<\/strong> \u5de6\u53f3\u304c\u5b8c\u5168\u306b\u7e4b\u304c\u3089\u305a\u3001\u5c11\u3057\u96e2\u308c\u3066\u3044\u308b\u5834\u5408\u3084\u3001\u8584\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9f3b\u3068\u53e3:<\/strong> \u9f3b\u5b54\u306e\u4e0a\u5411\u304d\uff08\u524d\u5411\u304d\uff09\u3084\u9577\u3044\u4eba\u4e2d\u306a\u3069\u306e\u7279\u5fb4\u304c\u3001\u4e00\u898b\u3057\u305f\u3060\u3051\u3067\u306f\u5206\u304b\u3089\u306a\u3044\u307b\u3069\u5fae\u7d30\u306a\u75c7\u4f8b\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\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%E3%81%8A%E3%82%88%E3%81%B3%E8%BA%AB%E4%BD%93%E7%9A%84%E6%89%80%E8%A6%8B\"><\/span><strong>\u9aa8\u683c\u304a\u3088\u3073\u8eab\u4f53\u7684\u6240\u898b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e0a\u80a2\u306e\u7570\u5e38:<\/strong> CdLS1\u3067\u3057\u3070\u3057\u3070\u898b\u3089\u308c\u308b\u300c\u524d\u8155\u306e\u6b20\u640d\u300d\u3084\u300c\u91cd\u5ea6\u306a\u624b\u6307\u306e\u7570\u5e38\u300d\u306f\u3001CdLS3\u3067\u306f\u6975\u3081\u3066\u7a00\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6210\u9577:<\/strong> \u6210\u9577\u969c\u5bb3\uff08\u4f4e\u8eab\u9577\u3084\u5c0f\u982d\u75c7\uff09\u306f\u8a8d\u3081\u3089\u308c\u307e\u3059\u304c\u30011\u578b\u306b\u6bd4\u3079\u308b\u3068\u6210\u9577\u66f2\u7dda\u306b\u8fd1\u3044\u4f4d\u7f6e\u3067\u63a8\u79fb\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E3%81%A8%E7%9F%A5%E7%9A%84%E6%A9%9F%E8%83%BD\"><\/span><strong>\u767a\u9054\u3068\u77e5\u7684\u6a5f\u80fd<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u7a0b\u5ea6:<\/strong> \u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u767a\u9054\u9045\u6ede\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054:<\/strong> \u8a00\u8a9e\u7372\u5f97\u306e\u9045\u308c\u306f\u898b\u3089\u308c\u308b\u3082\u306e\u306e\u30011\u578b\u3068\u6bd4\u8f03\u3059\u308b\u3068\u8868\u51fa\u8a00\u8a9e\uff08\u8a71\u3059\u3053\u3068\uff09\u304c\u53ef\u80fd\u306b\u306a\u308b\u5272\u5408\u304c\u9ad8\u3044\u3068\u3055\u308c\u3066\u3044\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%81%A8%E5%88%86%E5%AD%90%E6%A8%99%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>3. \u8a3a\u65ad\u3068\u5206\u5b50\u6a19\u7684\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CdLS3\u306e\u8a3a\u65ad\u306f\u3001\u305d\u306e\u63a7\u3048\u3081\u306a\u81e8\u5e8a\u50cf\u3086\u3048\u306b\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u308b\u88cf\u4ed8\u3051\u304c\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%87%A8%E5%BA%8A%E3%82%B9%E3%82%B3%E3%82%A2%E3%83%AA%E3%83%B3%E3%82%B0%E3%81%AE%E8%AA%B2%E9%A1%8C\"><\/span><strong>\u81e8\u5e8a\u30b9\u30b3\u30a2\u30ea\u30f3\u30b0\u306e\u8ab2\u984c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u56fd\u969b\u7684\u306aCdLS\u81e8\u5e8a\u8a3a\u65ad\u57fa\u6e96\u306b\u304a\u3044\u3066\u3001CdLS3\u306f\u300c\u975e\u53e4\u5178\u7684CdLS\u300d\u306e\u30b9\u30b3\u30a2\uff089\u301c10\u70b9\u4ee5\u4e0b\uff09\u306b\u7559\u307e\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u8eab\u4f53\u7279\u5fb4\u3060\u3051\u3067\u8a3a\u65ad\u3092\u4e0b\u3059\u3053\u3068\u304c\u96e3\u3057\u304f\u3001\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u3068\u3057\u3066\u6271\u308f\u308c\u3066\u3044\u308b\u30b1\u30fc\u30b9\u3082\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E3%83%91%E3%83%8D%E3%83%AB%E6%A4%9C%E6%9F%BB%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>SMC3\u907a\u4f1d\u5b50\u89e3\u6790<\/strong>\u306f\u3001CdLS\u306e\u5305\u62ec\u7684\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u306b\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>NGS\uff08\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff09:<\/strong> \u4ed6\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\uff08NIPBL, SMC1A, RAD21, HDAC8\uff09\u3068\u540c\u6642\u306b\u89e3\u6790\u3059\u308b\u3053\u3068\u3067\u3001\u5fae\u7d30\u306a\u5909\u7570\u3092\u7279\u5b9a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81e8\u5e8a\u7684\u610f\u7fa9:<\/strong> \u6b63\u78ba\u306a\u30b5\u30d6\u30bf\u30a4\u30d7\u7279\u5b9a\u306f\u3001\u5c06\u6765\u7684\u306a\u5408\u4f75\u75c7\u4e88\u6e2c\u3084\u3001\u5bb6\u65cf\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306e\u8aac\u660e\u306b\u304a\u3044\u3066\u6c7a\u5b9a\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\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%E6%96%B9%E9%87%9D%EF%BC%9AQOL%E3%81%AE%E6%9C%80%E5%A4%A7%E5%8C%96%E3%82%92%E7%9B%AE%E6%8C%87%E3%81%97%E3%81%A6\"><\/span><strong>4. \u7ba1\u7406\u3068\u6cbb\u7642\u65b9\u91dd\uff1aQOL\u306e\u6700\u5927\u5316\u3092\u76ee\u6307\u3057\u3066<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CdLS3\u306e\u60a3\u8005\u3055\u3093\u306f\u6bd4\u8f03\u7684\u826f\u597d\u306a\u767a\u9054\u4e88\u5f8c\u304c\u671f\u5f85\u3067\u304d\u308b\u305f\u3081\u3001\u65e9\u671f\u304b\u3089\u306e\u6559\u80b2\u7684\u4ecb\u5165\u304c\u5927\u304d\u306a\u52b9\u679c\u3092\u767a\u63ee\u3057\u307e\u3059\u3002<\/p>\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%EF%BC%88%E6%9C%80%E5%84%AA%E5%85%88%EF%BC%89\"><\/span><strong>\u7642\u80b2\u3068\u6559\u80b2\uff08\u6700\u512a\u5148\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u4ecb\u5165:<\/strong> \u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u767a\u9054\u9045\u6ede\u306b\u5bfe\u3057\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u65e9\u671f\u7642\u80b2\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u500b\u5225\u6559\u80b2\u652f\u63f4:<\/strong> \u8a8d\u77e5\u80fd\u529b\u306e\u5e45\u304c\u5e83\u3044\u305f\u3081\u3001\u500b\u3005\u306e\u5f97\u610f\u5206\u91ce\u3092\u4f38\u3070\u3059\u3088\u3046\u306a\u7279\u5225\u652f\u63f4\u6559\u80b2\u306e\u30ab\u30b9\u30bf\u30de\u30a4\u30ba\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AE%E3%82%B9%E3%82%AF%E3%83%AA%E3%83%BC%E3%83%8B%E3%83%B3%E3%82%B0%EF%BC%88CdLS%E5%85%B1%E9%80%9A%EF%BC%89\"><\/span><strong>\u5408\u4f75\u75c7\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff08CdLS\u5171\u901a\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8efd\u75c7\u578b\u3067\u3042\u3063\u3066\u3082\u3001\u4ee5\u4e0b\u306e\u5408\u4f75\u75c7\u306b\u306f\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6d88\u5316\u5668\u79d1:<\/strong> \u80c3\u98df\u9053\u9006\u6d41\u75c7\uff08GERD\uff09\u306e\u6709\u7121\u30021\u578b\u307b\u3069\u91cd\u75c7\u5316\u3057\u306b\u304f\u3044\u3068\u306f\u3044\u3048\u3001\u4e0d\u6a5f\u5acc\u3084\u98df\u6b32\u4e0d\u632f\u306e\u80cc\u666f\u306b\u96a0\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u611f\u899a\u5668:<\/strong> \u96e3\u8074\u3084\u8996\u529b\u7570\u5e38\uff08\u8fd1\u8996\u3001\u4e71\u8996\uff09\u306e\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u3002<\/li>\n\n\n\n<li><strong>\u5faa\u74b0\u5668:<\/strong> \u5148\u5929\u6027\u5fc3\u75be\u60a3\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\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\/2025\/11\/32627722_s.webp\" alt=\"\u533b\u8005\" class=\"wp-image-119511\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E4%BA%88%E5%BE%8C%E3%81%A8%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\"><\/span><strong>5. \u4e88\u5f8c\u3068\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CdLS3\u306e\u4e88\u5f8c\u306f\u3001\u4ed6\u306e\u30bf\u30a4\u30d7\u3068\u6bd4\u8f03\u3057\u3066\u826f\u597d\u3067\u3042\u308a\u3001\u6210\u4eba\u671f\u306b\u81ea\u7acb\u3057\u305f\u751f\u6d3b\u306e\u4e00\u90e8\u3092\u55b6\u3080\u3053\u3068\u304c\u3067\u304d\u308b\u60a3\u8005\u3055\u3093\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A4%BE%E4%BC%9A%E7%9A%84%E9%81%A9%E5%BF%9C\"><\/span><strong>\u793e\u4f1a\u7684\u9069\u5fdc<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8a00\u8449\u306e\u7406\u89e3\u529b\u304c\u9ad8\u304f\u3001\u5bfe\u4eba\u95a2\u4fc2\u306b\u304a\u3044\u3066\u826f\u597d\u306a\u793e\u4f1a\u6027\u3092\u767a\u63ee\u3059\u308b\u75c7\u4f8b\u3082\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5bb6\u65cf\u3084\u5b66\u6821\u304c\u65e9\u3044\u6bb5\u968e\u3067\u305d\u306e\u5b50\u306e\u300c\u5f37\u307f\u300d\u3092\u7406\u89e3\u3057\u3001\u81ea\u5df1\u80af\u5b9a\u611f\u3092\u80b2\u3080\u3053\u3068\u304c\u3001\u9577\u671f\u7684\u306aQOL\u5411\u4e0a\u306b\u76f4\u7d50\u3057\u307e\u3059\u3002<\/p>\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>\u65b0\u751f\u7a81\u7136\u5909\u7570\u3067\u3042\u308b\u5834\u5408\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u6975\u3081\u3066\u4f4e\u3044\uff081%\u672a\u6e80\uff09\u3068\u8aac\u660e\u3055\u308c\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u6b63\u78ba\u306a\u8a3a\u65ad\u540d\u304c\u3042\u308b\u3053\u3068\u3067\u3001\u5bb6\u65cf\u306f\u5c06\u6765\u306e\u898b\u901a\u3057\u3092\u7acb\u3066\u3084\u3059\u304f\u306a\u308a\u3001\u540c\u3058\u75be\u60a3\u3092\u6301\u3064\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u3068\u306e\u3064\u306a\u304c\u308a\u3092\u6301\u3064\u3053\u3068\u304c\u3067\u304d\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%EF%BC%9A%E9%9D%9E%E5%8F%A4%E5%85%B8%E7%9A%84%E3%81%AA%E5%80%8B%E6%80%A7%E3%81%AB%E5%85%89%E3%82%92%E5%BD%93%E3%81%A6%E3%82%8B\"><\/span><strong>\u7d50\u8ad6\uff1a\u975e\u53e4\u5178\u7684\u306a\u500b\u6027\u306b\u5149\u3092\u5f53\u3066\u308b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Cornelia de Lange syndrome 3\uff08CdLS3\uff09\u306f\u3001\u53e4\u5178\u7684\u306a\u300c\u30b3\u30fc\u30cd\u30eb\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\u75c7\u5019\u7fa4\u300d\u306e\u30a4\u30e1\u30fc\u30b8\u3068\u306f\u5c11\u3057\u7570\u306a\u308b\u3001\u3088\u308a\u30de\u30a4\u30eb\u30c9\u3067\u591a\u69d8\u306a\u53ef\u80fd\u6027\u3092\u79d8\u3081\u305f\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u5178\u578b\u7684\u306a\u75c7\u72b6\u304c\u306a\u3044\u304b\u3089\u9055\u3046\u300d\u3068\u5224\u65ad\u3059\u308b\u306e\u3067\u306f\u306a\u304f\u3001\u5fae\u7d30\u306a\u5fb4\u5019\u306e\u7d44\u307f\u5408\u308f\u305b\u304b\u3089\u3053\u306e\u5e0c\u5c11\u306a\u30b5\u30d6\u30bf\u30a4\u30d7\u3092\u7591\u3046\u3053\u3068\u3002\u305d\u3057\u3066\u3001\u6b63\u78ba\u306a\u907a\u4f1d\u5b50\u8a3a\u65ad\u3092\u901a\u3058\u3066\u3001\u305d\u306e\u5b50\u304c\u6301\u3064\u53ef\u80fd\u6027\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\u305f\u3081\u306e\u30b5\u30dd\u30fc\u30c8\u4f53\u5236\u3092\u6574\u3048\u308b\u3053\u3068\u3002CdLS3\u306e\u7406\u89e3\u3092\u6df1\u3081\u308b\u3053\u3068\u306f\u3001\u5e0c\u5c11\u75be\u60a3\u306b\u304a\u3051\u308b\u300c\u500b\u5225\u5316\u533b\u7642\uff08\u30d1\u30fc\u30bd\u30ca\u30e9\u30a4\u30ba\u30c9\u30fb\u30b1\u30a2\uff09\u300d\u306e\u91cd\u8981\u6027\u3092\u79c1\u305f\u3061\u306b\u518d\u8a8d\u8b58\u3055\u305b\u3066\u304f\u308c\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":"\u300c\u30b3\u30fc\u30cd\u30eb\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\u75c7\u5019\u7fa4\uff08CdLS\uff09&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":121600,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122874","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\/122874","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=122874"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122874\/revisions"}],"predecessor-version":[{"id":126227,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122874\/revisions\/126227"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/121600"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122874"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122874"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122874"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}