{"id":83543,"date":"2024-11-14T14:27:39","date_gmt":"2024-11-14T05:27:39","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83543"},"modified":"2026-03-04T13:01:55","modified_gmt":"2026-03-04T04:01:55","slug":"10q22-3-q23-2-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3-q23-2-deletion-syndrome\/","title":{"rendered":"\u5206\u88c2\u624b\u8db3\u5947\u5f623\u578b\uff08SHFM3\uff09- 10q24"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p>SHFM3\uff08\u5206\u88c2\u624b\u8db3\u5947\u5f623\u578b\uff09\u306f\u3001\u624b\u3084\u8db3\u306e\u4e2d\u592e\u90e8\u5206\u306b\u7570\u5e38\u304c\u73fe\u308c\u308b\u5148\u5929\u7684\u306a\u75be\u60a3\u3067\u3059\u3002\u907a\u4f1d\u7684\u8981\u56e0\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u3001\u767a\u9054\u7570\u5e38\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u9854\u9762\u7570\u5e38\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001SHFM3\u306e\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u6cd5\u3001\u305d\u3057\u3066\u4e88\u5f8c\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p><\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_83 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path 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\/10q22-3-q23-2-deletion-syndrome\/#SHFM%E3%81%A8%E3%81%AF%EF%BC%9F%EF%BC%88Split-HandFoot_Malformation%E3%83%BB%E8%A3%82%E6%89%8B%E8%A3%82%E8%B6%B3%EF%BC%89\" >SHFM\u3068\u306f\uff1f\uff08Split-Hand\/Foot Malformation\u30fb\u88c2\u624b\u88c2\u8db3\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3-q23-2-deletion-syndrome\/#%E7%96%BE%E6%82%A3%E6%A6%82%E8%A6%81\" >\u75be\u60a3\u6982\u8981<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3-q23-2-deletion-syndrome\/#%E7%97%85%E5%9B%A0%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%AE%E6%96%B9%E6%B3%95\" >\u75c5\u56e0\u3068\u8a3a\u65ad\u306e\u65b9\u6cd5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3-q23-2-deletion-syndrome\/#%E7%96%BE%E6%82%A3%E3%81%AE%E7%97%87%E7%8A%B6%E3%81%A8%E7%AE%A1%E7%90%86%E6%96%B9%E6%B3%95\" >\u75be\u60a3\u306e\u75c7\u72b6\u3068\u7ba1\u7406\u65b9\u6cd5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3-q23-2-deletion-syndrome\/#%E5%B0%86%E6%9D%A5%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97\" >\u5c06\u6765\u306e\u898b\u901a\u3057<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3-q23-2-deletion-syndrome\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\" >\u5f15\u7528\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"SHFM%E3%81%A8%E3%81%AF%EF%BC%9F%EF%BC%88Split-HandFoot_Malformation%E3%83%BB%E8%A3%82%E6%89%8B%E8%A3%82%E8%B6%B3%EF%BC%89\"><\/span>SHFM\u3068\u306f\uff1f\uff08<strong>Split-Hand\/Foot Malformation<\/strong>\u30fb\u88c2\u624b\u88c2\u8db3\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>SHFM\u306f\u3001\u4e0a\u80a2\u3068\u4e0b\u80a2\u306e\u6b63\u5e38\u306a\u767a\u9054\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u73cd\u3057\u3044\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3059\u3002\u3053\u306e\u75c5\u6c17\u306b\u3088\u308a\u3001\u624b\u3084\u8db3\u306b\u6df1\u3044\u3072\u3073\u5272\u308c\u304c\u3067\u304d\u3001\u7247\u5074\u307e\u305f\u306f\u4e21\u5074\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u3072\u3073\u5272\u308c\u306f\u3001\u6307\u3084\u8db3\u306e\u6307\u304c\u6b20\u640d\u3057\u305f\u308a\u3001\u767a\u80b2\u4e0d\u5168\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u72b6\u614b\u306f\u300c\u6b20\u640d\u75c7\uff08\u30a2\u30d7\u30e9\u30b8\u30a2\uff09\u300d\u3084\u300c\u767a\u80b2\u4e0d\u5168\uff08\u30cf\u30a4\u30dd\u30d7\u30e9\u30b8\u30a2\uff09\u300d\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002SHFM\u306f\u3001\u5358\u72ec\u3067\u767a\u751f\u3059\u308b\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u4ed6\u306e\u75c7\u72b6\u3068\u95a2\u9023\u3059\u308b\u5927\u304d\u306a\u75c7\u5019\u7fa4\u306e\u4e00\u90e8\u3068\u3057\u3066\u73fe\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u305d\u306e\u91cd\u75c7\u5ea6\u306f\u3001\u95a2\u4e0e\u3059\u308b\u907a\u4f1d\u5b50\u3084\u5909\u7570\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/10q26-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">10q26\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">10q26\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300110\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u6b20\u5931\u304c\u539f\u56e0\u3067\u767a\u751f\u3059\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u767a\u9054\u9045\u5ef6\u3084\u5185\u81d3\u7570\u5e38\u3001\u884c\u52d5\u554f\u984c\u304c\u7279\u5fb4\u3067\u3001\u6cbb\u7642\u6cd5\u3084\u5bb6\u65cf\u652f\u63f4\u306e\u30dd\u30a4\u30f3...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"480\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/25755019_s.jpg\" alt=\"\u30df\u30c8\u30f3\" class=\"wp-image-90052\"\/><\/figure><\/div>\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u975e\u75c7\u5019\u7fa4\u6027SHFM\uff08\u4ed6\u306e\u5065\u5eb7\u554f\u984c\u304c\u95a2\u9023\u3057\u306a\u3044\u72b6\u614b\uff09\u306f\u3001\u4ee5\u4e0b\u306e8\u3064\u306e\u7570\u306a\u308b\u30bf\u30a4\u30d7\u306b\u5206\u985e\u3055\u308c\u307e\u3059\uff1a<\/p>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\uff08\u7247\u65b9\u306e\u89aa\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u305f\u5909\u7570\u304c1\u3064\u3067\u3082\u3042\u308c\u3070\u767a\u75c7\uff09\n<ul class=\"wp-block-list\">\n<li><strong>SHFM1<\/strong>\uff1aDLX5\u304a\u3088\u3073DLX6\u907a\u4f1d\u5b50\u306b\u95a2\u9023<\/li>\n\n\n\n<li><strong>SHFM3<\/strong>\uff1a\u67d3\u8272\u4f5310q24\u4e0a\u306e\u907a\u4f1d\u5b50\u306b\u95a2\u9023<\/li>\n\n\n\n<li><strong>SHFM4<\/strong>\uff1aTP63\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b<\/li>\n\n\n\n<li><strong>SHFM5<\/strong>\uff1a\u67d3\u8272\u4f532q31\u4e0a\u306eSHFM5\u907a\u4f1d\u5b50\u306b\u95a2\u9023<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff08\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c1\u3064\u305a\u3064\u5909\u7570\u3092\u53d7\u3051\u7d99\u3050\u5fc5\u8981\u3042\u308a\uff09\n<ul class=\"wp-block-list\">\n<li><strong>SHFM6<\/strong>\uff1aWNT10B\u907a\u4f1d\u5b50\u306b\u95a2\u9023<\/li>\n\n\n\n<li><strong>SHFM7<\/strong>\uff1aZAK\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308bf<\/li>\n\n\n\n<li><strong>SHFM8<\/strong>\uff1aEPS15L1\u907a\u4f1d\u5b50\u306b\u95a2\u9023<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul class=\"wp-block-list\">\n<li>X\u9023\u9396\u6027SHFM\uff08X\u67d3\u8272\u4f53\u4e0a\u306e\u5909\u7570\u3068\u95a2\u9023\uff09\n<ul class=\"wp-block-list\">\n<li><strong>SHFM2<\/strong><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u672c\u8a18\u4e8b\u306f\u4e3b\u306bSHFM3\u306b\u3064\u3044\u3066\u53d6\u308a\u4e0a\u3052\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E6%A6%82%E8%A6%81\"><\/span>\u75be\u60a3\u6982\u8981<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large is-resized\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/d419ac504d6586acfb4d31ed43474ce1-1024x20.png\" alt=\"10q24\u3000\u3000\" class=\"wp-image-90062\" style=\"width:1024px;height:auto\"\/><\/figure><\/div>\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>SHFM\uff08\u5206\u88c2\u624b\u8db3\u5947\u5f62\uff09\u306f\u3001\u56db\u80a2\u306e\u767a\u9054\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u307e\u308c\u306a\u5148\u5929\u7684\u306a\u75c5\u6c17\u3067\u3059\u3002\u3053\u306e\u75c5\u6c17\u306f\u3001\u7279\u306b\u624b\u3084\u8db3\u306e\u4e2d\u5fc3\u90e8\u5206\u306b\u7570\u5e38\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u6307\u3084\u8db3\u306e\u6307\u304c\u6b20\u3051\u3066\u3044\u305f\u308a\u3001\u767a\u80b2\u304c\u4e0d\u5b8c\u5168\u306a\u5834\u5408\uff08\u30d2\u30dd\u30d7\u30e9\u30b8\u30a2\uff09\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u624b\u3084\u8db3\u306b\u6df1\u3044\u6e9d\uff08\u4e2d\u592e\u3072\u3073\u5272\u308c\uff09\u304c\u3067\u304d\u305f\u308a\u3001\u6307\u304c\u7652\u7740\uff08\u305b\u3093\u3060\u304f\uff09\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u7570\u5e38\u306f\u8efd\u5ea6\u306a\u3082\u306e\u304b\u3089\u3001\u624b\u3084\u8db3\u304c\u30ed\u30d6\u30b9\u30bf\u30fc\u306e\u722a\u306e\u3088\u3046\u306a\u5f62\u306b\u306a\u308b\u3088\u3046\u306a\u91cd\u5ea6\u306e\u3082\u306e\u307e\u3067\u3001\u3055\u307e\u3056\u307e\u306a\u7a0b\u5ea6\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>SHFM\u306f\u5358\u72ec\u3067\u73fe\u308c\u308b\u3053\u3068\u3082\u3042\u308c\u3070\u3001\u4ed6\u306e\u75c7\u5019\u7fa4\u306e\u4e00\u90e8\u3068\u3057\u3066\u767a\u75c7\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306f\u907a\u4f1d\u7684\u306b\u591a\u69d8\u3067\u3001\u7570\u306a\u308b\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u3001\u75c7\u72b6\u3082\u500b\u4eba\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u6700\u3082\u4e00\u822c\u7684\u306a\u539f\u56e0\u306f\u67d3\u8272\u4f5317p13.3\u307e\u305f\u306f10q24\u306b\u304a\u3051\u308b\u91cd\u8907\u3067\u3059\u304c\u3001\u4ed6\u306e\u907a\u4f1d\u5b50\u5909\u7570\u304c\u95a2\u308f\u3063\u3066\u3044\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>SHFM3\u306f\u3001\u5206\u88c2\u624b\u8db3\u5947\u5f62\u306e\u4e00\u7a2e\u3067\u3001\u67d3\u8272\u4f5310q24\u306b\u3042\u308bSHFM3\u907a\u4f1d\u5b50\u5ea7\u306e\u91cd\u8907\u304c\u539f\u56e0\u3067\u3059\u3002\u3053\u306e\u30bf\u30a4\u30d7\u306f\u901a\u5e38\u3001\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u3068\u547c\u3070\u308c\u308b\u907a\u4f1d\u5f62\u5f0f\u3067\u907a\u4f1d\u3057\u307e\u3059\u3002\u3064\u307e\u308a\u3001\u5f71\u97ff\u3092\u53d7\u3051\u305f\u89aa\u304b\u30891\u3064\u306e\u5909\u7570\u907a\u4f1d\u5b50\u304c\u5b50\u3069\u3082\u306b\u907a\u4f1d\u3057\u3001\u75c5\u6c17\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u3057\u304b\u3057\u3001SHFM3\u306f\u4e0d\u5b8c\u5168\u6d78\u900f\u6027\u3068\u3044\u3046\u7279\u6027\u3092\u6301\u3063\u3066\u304a\u308a\u3001\u5909\u7570\u304c\u3042\u3063\u3066\u3082\u75c7\u72b6\u304c\u73fe\u308c\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u5f71\u97ff\u3092\u53d7\u3051\u305f\u7537\u6027\u304b\u3089\u606f\u5b50\u306b\u5bfe\u3057\u3066\u75c7\u72b6\u304c\u4f1d\u308f\u308b\u50be\u5411\u304c\u3042\u308a\u3001\u3053\u308c\u3092\u300c\u5206\u96e2\u6b6a\u307f\u300d\u3068\u547c\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u90e8\u306eSHFM3\u60a3\u8005\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u9854\u306e\u7570\u5e38\u3001\u53e3\u5507\u88c2\u306a\u3069\u306e\u7279\u5fb4\u3082\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3059\u3079\u3066\u306e\u60a3\u8005\u306b\u73fe\u308c\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002SHFM\u306e\u4e2d\u3067\u3082\u3001\u4ed6\u306e\u5065\u5eb7\u554f\u984c\u304c\u4f34\u308f\u306a\u3044\u300c\u975e\u75c7\u5019\u7fa4\u6027SHFM\u300d\u306f\u3001SHFM3\u304c\u6700\u3082\u591a\u304f\u898b\u3089\u308c\u308b\u30bf\u30a4\u30d7\u3067\u3059\u3002<\/p>\n\n\n\n<p>SHFM\u306e\u63a8\u5b9a\u767a\u751f\u983b\u5ea6\u306f\u3001\u51fa\u751f10\u4e07\u4eba\u3042\u305f\u308a1\uff5e9\u4eba\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%AE%E6%96%B9%E6%B3%95\"><\/span>\u75c5\u56e0\u3068\u8a3a\u65ad\u306e\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5206\u88c2\u624b\u8db3\u5947\u5f62\uff08SHFM\uff09\u306f\u3001\u624b\u3084\u8db3\u306e\u4e2d\u5fc3\u90e8\u5206\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u5148\u5929\u7684\u306a\u56db\u80a2\u306e\u7570\u5e38\u3067\u3059\u3002\u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u6307\u3084\u8db3\u306e\u6307\u304c\u6b20\u3051\u305f\u308a\u3001\u767a\u80b2\u304c\u4e0d\u5b8c\u5168\u3060\u3063\u305f\u308a\u3001\u4e2d\u592e\u306b\u6df1\u3044\u6e9d\u304c\u3067\u304d\u305f\u308a\u3001\u6307\u304c\u7652\u7740\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002SHFM\u306f\u907a\u4f1d\u7684\u306b\u591a\u69d8\u3067\u3001\u7570\u306a\u308b\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u75c7\u72b6\u304c\u7570\u306a\u308a\u3001\u540c\u3058\u5bb6\u65cf\u5185\u3067\u3082\u75c7\u72b6\u304c\u7570\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"415\" height=\"305\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/AF-P52954-F1.png\" alt=\"Transcription factor LBX1\" class=\"wp-image-90085\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>SHFM3\u306f\u3001\u305d\u306e\u4e2d\u3067\u3082\u4e00\u3064\u306e\u30bf\u30a4\u30d7\u3067\u3001\u67d3\u8272\u4f5310q24\u306b\u3042\u308bLBX1\/FGF8\u907a\u4f1d\u5b50\u5ea7\u306e\u91cd\u8907\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u5ea7\u306b\u306f\u3001\u56db\u80a2\u306e\u767a\u9054\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u30592\u3064\u306e\u8abf\u7bc0\u9818\u57df\u304c\u3042\u308a\u3001FGF8\u907a\u4f1d\u5b50\uff08\u56db\u80a2\u306e\u6210\u9577\u306b\u95a2\u4e0e\uff09\u3068LBX1\u907a\u4f1d\u5b50\uff08\u7b4b\u8089\u306e\u767a\u9054\u306b\u95a2\u4e0e\uff09\u3092\u8abf\u7bc0\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u8abf\u7bc0\u9818\u57df\u306f\u3001\u7570\u306a\u308b\u300c\u30c8\u30dd\u30ed\u30b8\u30fc\u95a2\u9023\u9818\u57df\uff08TAD\uff09\u300d\u306b\u5206\u304b\u308c\u3066\u304a\u308a\u3001\u305d\u308c\u305e\u308c\u304c\u5f37\u304f\u76f8\u4e92\u4f5c\u7528\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u7570\u306a\u308bTAD\u540c\u58eb\u306e\u76f8\u4e92\u4f5c\u7528\u306f\u5236\u9650\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306eTAD\u304c\u4e71\u308c\u308b\u3068\u3001\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u3084\u8abf\u7bc0\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u3001\u767a\u9054\u7570\u5e38\u304c\u8d77\u3053\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"330\" height=\"197\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/AF-P55075-F1.png\" alt=\"FGF8\u3000Fibroblast growth factor 8\" class=\"wp-image-90088\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u6700\u8fd1\u306e\u7814\u7a76\u3067\u306f\u3001\u91cd\u8907\u3084\u9006\u8ee2\u306a\u3069\u306e\u69cb\u9020\u7684\u5909\u7570\u304c\u8abf\u7bc0\u9818\u57df\u306e\u6b63\u5e38\u306a\u76f8\u4e92\u4f5c\u7528\u3092\u59a8\u3052\u3001\u907a\u4f1d\u5b50\u306e\u8aa4\u3063\u305f\u8abf\u7bc0\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002SHFM3\u306e\u5834\u5408\u3001LBX1\/FGF8\u907a\u4f1d\u5b50\u5ea7\u3067\u306e\u91cd\u8907\u304c\u3001\u3053\u308c\u3089\u306e\u8abf\u7bc0\u9818\u57df\u540c\u58eb\u306e\u7570\u5e38\u306a\u76f8\u4e92\u4f5c\u7528\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u304c\u8aa4\u3063\u3066\u767a\u73fe\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7279\u306b\u3001BTRC\u3068LBX1\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u8aa4\u3063\u305f\u767a\u73fe\u304c\u3001SHFM3\u306e\u539f\u56e0\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u304c\u56db\u80a2\u82bd\u306e\u9802\u7aef\u5916\u80da\u8449\u7a1c\uff08AER\uff09\u3068\u3044\u3046\u91cd\u8981\u306a\u4fe1\u53f7\u3092\u4f1d\u3048\u308b\u9818\u57df\u3067\u7570\u5e38\u306b\u6d3b\u6027\u5316\u3055\u308c\u308b\u3053\u3068\u304c\u3001\u6b63\u5e38\u306a\u56db\u80a2\u306e\u767a\u9054\u3092\u59a8\u3052\u3001SHFM3\u306b\u7279\u5fb4\u7684\u306a\u5947\u5f62\u3092\u5f15\u304d\u8d77\u3053\u3059\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>BTRC\u3068LBX1\u306e\u8aa4\u3063\u305f\u767a\u73fe\u304cSHFM3\u306e\u4e3b\u306a\u539f\u56e0\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u4ed6\u306b\u3082\u907a\u4f1d\u7684\u306a\u8981\u56e0\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u305d\u306e\u8a73\u7d30\u306f\u307e\u3060\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u304c\u3069\u306e\u3088\u3046\u306b\u75c5\u6c17\u3092\u5f15\u304d\u8d77\u3053\u3059\u306e\u304b\u3001\u305d\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u306b\u3064\u3044\u3066\u306f\u3055\u3089\u306a\u308b\u7814\u7a76\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>SHFM3\u306f\u907a\u4f1d\u7684\u7570\u8cea\u6027\u3092\u793a\u3059\u5178\u578b\u7684\u306a\u4f8b\u3067\u3042\u308a\u3001\u540c\u3058\u75c5\u6c17\u3067\u3082\u7570\u306a\u308b\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3068\u306a\u308a\u3001\u75c7\u72b6\u304c\u3055\u307e\u3056\u307e\u306b\u73fe\u308c\u307e\u3059\u3002LBX1\/FGF8\u907a\u4f1d\u5b50\u5ea7\u3067\u306e\u91cd\u8907\u304cSHFM3\u306e\u6700\u3082\u4e00\u822c\u7684\u306a\u539f\u56e0\u3067\u3059\u304c\u3001\u4ed6\u306e\u907a\u4f1d\u5b50\u5ea7\u3067\u306e\u5909\u7570\u3082SHFM\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306e\u81e8\u5e8a\u7684\u306a\u591a\u69d8\u6027\u306f\u3001\u907a\u4f1d\u7684\u539f\u56e0\u306e\u8907\u96d1\u3055\u3092\u793a\u3057\u3066\u304a\u308a\u3001\u305d\u306e\u6839\u672c\u7684\u306a\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u7406\u89e3\u3059\u308b\u305f\u3081\u306b\u306f\u3001\u3055\u3089\u306a\u308b\u7814\u7a76\u304c\u6c42\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"931\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/bf9b7945b0aa40385a6008ba33911c53.png\" alt=\"chromo10\" class=\"wp-image-90059\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>DNA\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09\u306f\u3001\u51fa\u751f\u524dFISH\uff08\u86cd\u5149 in situ \u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff09\u3084\u7f8a\u6c34\u7a7f\u523a\u306e\u3088\u3046\u306a\u4fb5\u8972\u7684\u306a\u65b9\u6cd5\u306b\u4ee3\u308f\u308b\u4fe1\u983c\u6027\u306e\u9ad8\u3044\u5b89\u5168\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u65b9\u6cd5\u3068\u3057\u3066\u767b\u5834\u3057\u307e\u3057\u305f\u3002\u7f8a\u6c34\u7a7f\u523a\u3084\u7d68\u6bdb\u63a1\u53d6\u3067\u306f\u3001\u5b50\u5bae\u306b\u91dd\u3092\u523a\u3057\u3066\u7f8a\u6c34\u3084\u7d68\u6bdb\u819c\u7d30\u80de\u306e\u30b5\u30f3\u30d7\u30eb\u3092\u63a1\u53d6\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u65b9\u3001NIPT\u306f\u6bcd\u89aa\u306e\u8840\u6db2\u4e2d\u306b\u5b58\u5728\u3059\u308b\u80ce\u5150\u306e\u7d30\u80de\u3092\u5206\u6790\u3057\u3001\u767a\u9054\u4e2d\u306e\u5b50\u3069\u3082\u306e\u30b2\u30ce\u30e0\u3092\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001SHFM3\uff08\u5206\u88c2\u624b\u8db3\u5947\u5f623\u578b\uff09\u306e\u53ef\u80fd\u6027\u3092\u793a\u3059\u907a\u4f1d\u5b50\u9818\u57df\u3092\u542b\u3080\u3001\u80ce\u5150\u306e\u907a\u4f1d\u60c5\u5831\u304c\u691c\u51fa\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u65b9\u6cd5\u306f\u6bcd\u89aa\u3084\u80ce\u5150\u306e\u5065\u5eb7\u306b\u30ea\u30b9\u30af\u3092\u4f34\u308f\u305a\u3001\u4fe1\u983c\u6027\u306e\u9ad8\u3044\u7d50\u679c\u3092\u63d0\u4f9b\u3057\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u5b89\u5168\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u65b9\u6cd5\u3092\u6c42\u3081\u308b\u598a\u5a66\u306b\u3068\u3063\u3066\u3001\u307e\u3059\u307e\u3059\u4eba\u6c17\u306e\u3042\u308b\u9078\u629e\u80a2\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/primary-ciliary-dyskinesia-dnai2\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u539f\u767a\u6027\u7dda\u6bdb\u904b\u52d5\u4e0d\u5168\u75c7 \u3010DNAI2\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E3%81%AE%E7%97%87%E7%8A%B6%E3%81%A8%E7%AE%A1%E7%90%86%E6%96%B9%E6%B3%95\"><\/span>\u75be\u60a3\u306e\u75c7\u72b6\u3068\u7ba1\u7406\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5206\u88c2\u624b\u8db3\u5947\u5f62\uff08SHFM\uff09\u306f\u3001\u624b\u3084\u8db3\u306e\u767a\u9054\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u307e\u308c\u306a\u5148\u5929\u7684\u306a\u72b6\u614b\u3067\u3001\u7279\u306b\u56db\u80a2\u306e\u4e2d\u592e\u90e8\u5206\u306b\u3042\u308b\u300c\u4e2d\u5fc3\u7dda\u300d\u306b\u7570\u5e38\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u306e\u4e2d\u5fc3\u7dda\u306f\u3001\u624b\u3084\u8db3\u306e\u6307\uff08\u624b\u6307\u3084\u8db3\u6307\uff09\u3084\u9aa8\u3092\u5f62\u6210\u3059\u308b\u4e3b\u8981\u306a\u69cb\u9020\u3067\u3059\u3002SHFM\u3067\u306f\u3001\u3053\u308c\u3089\u306e\u4e2d\u592e\u69cb\u9020\u304c\u5909\u5f62\u3057\u305f\u308a\u3001\u6b20\u3051\u3066\u3044\u305f\u308a\u3001\u767a\u80b2\u4e0d\u5168\u3067\u3042\u3063\u305f\u308a\u3057\u307e\u3059\u3002SHFM\u306e\u4e3b\u306a\u7279\u5fb4\u306b\u306f\u3001\u305b\u3093\u3060\u304f\uff08\u6307\u3084\u8db3\u306e\u6307\u304c\u7652\u7740\u3059\u308b\u3053\u3068\uff09\u3001\u4e2d\u592e\u3072\u3073\u5272\u308c\uff08\u624b\u3084\u8db3\u306b\u6df1\u3044\u6e9d\u304c\u3067\u304d\u308b\u3053\u3068\uff09\u3001\u304a\u3088\u3073\u6307\u9aa8\uff08\u624b\u6307\u3084\u8db3\u6307\u306e\u9aa8\uff09\u3001\u638c\u9aa8\uff08\u624b\u306e\u3072\u3089\u306e\u9aa8\uff09\u3001\u304a\u3088\u3073\u8db3\u6839\u9aa8\uff08\u8db3\u306e\u9aa8\uff09\u306e\u6b20\u640d\uff08\u30a2\u30d7\u30e9\u30b8\u30a2\uff09\u3084\u767a\u80b2\u4e0d\u5168\uff08\u30cf\u30a4\u30dd\u30d7\u30e9\u30b8\u30a2\uff09\u304c\u542b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305b\u3093\u3060\u304f\u3068\u306f\u3001\u4e8c\u3064\u4ee5\u4e0a\u306e\u6307\u3084\u8db3\u306e\u6307\u304c\u90e8\u5206\u7684\u307e\u305f\u306f\u5b8c\u5168\u306b\u7652\u7740\u3057\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002\u4e2d\u592e\u3072\u3073\u5272\u308c\u306f\u3001\u624b\u3084\u8db3\u306e\u4e2d\u592e\u306b\u6df1\u3044\u6e9d\u304c\u73fe\u308c\u3001\u5916\u898b\u3084\u6a5f\u80fd\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u30a2\u30d7\u30e9\u30b8\u30a2\u3084\u30cf\u30a4\u30dd\u30d7\u30e9\u30b8\u30a2\u306f\u3001\u6307\u9aa8\u3084\u638c\u9aa8\u3001\u8db3\u6839\u9aa8\u304c\u6b20\u3051\u305f\u308a\u3001\u5c0f\u3055\u304f\u306a\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u3001\u3053\u308c\u306b\u3088\u308a\u3001\u624b\u3084\u8db3\u306e\u7d30\u304b\u3044\u4f5c\u696d\u304c\u56f0\u96e3\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/29302916_s.jpg\" alt=\"\u76f2\u4eba\" class=\"wp-image-89335\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>SHFM\u306e\u60a3\u8005\u306f\u3001\u56db\u80a2\u306e\u7570\u5e38\u306e\u307b\u304b\u306b\u3082\u4ed6\u306e\u95a2\u9023\u3059\u308b\u75c7\u72b6\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u306f\u3001\u8a8d\u77e5\u767a\u9054\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u3001\u5916\u80da\u8449\u7570\u5e38\uff08\u76ae\u819a\u3001\u9aea\u3001\u722a\u3001\u307e\u305f\u306f\u6b6f\u306b\u95a2\u308f\u308b\u554f\u984c\uff09\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u5916\u80da\u8449\u7570\u5e38\u306f\u3001\u722a\u304c\u8584\u304f\u8106\u3044\u3001\u9aea\u304c\u307e\u3070\u3089\u3001\u307e\u305f\u306f\u6b6f\u306b\u6b20\u9665\u304c\u3042\u308b\u3068\u3044\u3063\u305f\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u4e00\u90e8\u306e\u60a3\u8005\u306b\u306f\u9854\u9762\u9aa8\u306e\u5909\u5f62\u306a\u3069\u306e\u982d\u84cb\u9854\u9762\u7570\u5e38\u304c\u898b\u3089\u308c\u3001\u9854\u306e\u69cb\u9020\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u53e3\u5507\u88c2\u3084\u53e3\u84cb\u88c2\uff08\u4e0a\u5507\u3084\u53e3\u84cb\u306b\u958b\u53e3\u90e8\u3084\u9699\u9593\u304c\u3067\u304d\u308b\u3053\u3068\uff09\u3082SHFM\u60a3\u8005\u306b\u4e00\u822c\u7684\u306b\u898b\u3089\u308c\u3001\u3053\u308c\u3089\u306f\u6388\u4e73\u3001\u767a\u8a71\u3001\u6b6f\u79d1\u306e\u554f\u984c\u3092\u8907\u96d1\u306b\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>SHFM\u306e\u91cd\u75c7\u5ea6\u306f\u3001\u60a3\u8005\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u3001\u6307\u3084\u8db3\u306e\u6307\u306e\u8efd\u5ea6\u306e\u7570\u5e38\u3060\u3051\u3067\u3001\u56db\u80a2\u306e\u5947\u5f62\u306f\u6bd4\u8f03\u7684\u8efd\u5ea6\u3067\u3042\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u91cd\u5ea6\u306e\u75c7\u4f8b\u3067\u306f\u3001\u624b\u3084\u8db3\u306b\u300c\u30ed\u30d6\u30b9\u30bf\u30fc\u306e\u722a\u300d\u306e\u3088\u3046\u306a\u5916\u89b3\u304c\u73fe\u308c\u3001\u4e2d\u592e\u306e\u6307\u304c\u307b\u3068\u3093\u3069\u306a\u3044\u3001\u307e\u305f\u306f\u307e\u3063\u305f\u304f\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u624b\u3084\u8db3\u306e\u6a5f\u80fd\u304c\u5927\u304d\u304f\u640d\u306a\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u56db\u80a2\u306f\u7247\u65b9\u306e\u307f\u307e\u305f\u306f\u4e21\u65b9\u306b\u5f71\u97ff\u3092\u53d7\u3051\u3001\u4e0a\u80a2\u3068\u4e0b\u80a2\u3067\u7570\u306a\u308b\u7a0b\u5ea6\u306b\u95a2\u4e0e\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u81e8\u5e8a\u7684\u306a\u8868\u73fe\u306e\u591a\u69d8\u6027\u306f\u3001SHFM\u304c\u8a3a\u65ad\u3084\u7ba1\u7406\u306b\u304a\u3044\u3066\u8907\u96d1\u306a\u72b6\u614b\u3067\u3042\u308b\u7406\u7531\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/28793493_s.jpg\" alt=\"\u5b50\u4f9b\u3092\u62b1\u3044\u3066\u3044\u308b\u5973\u6027\" class=\"wp-image-88004\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>SHFM\u306f\u5358\u72ec\u3067\u73fe\u308c\u308b\u3053\u3068\u3082\u3042\u308c\u3070\u3001\u4ed6\u306e\u907a\u4f1d\u7684\u306a\u75c7\u5019\u7fa4\u306e\u4e00\u90e8\u3068\u3057\u3066\u73fe\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u4e00\u4f8b\u304c\u3001\u9060\u4f4d\u56db\u80a2\u6b20\u640d-\u5c0f\u984e\u75c7\u75c7\u5019\u7fa4\u3067\u3059\u3002\u3053\u306e\u75c7\u5019\u7fa4\u306f\u3001\u4e21\u8155\u304a\u3088\u3073\u4e21\u8db3\u306b\u91cd\u5ea6\u306e\u56db\u80a2\u6b20\u640d\uff08\u4e94\u6307\u304c\u6b20\u3051\u308b\u306a\u3069\uff09\u3068\u3068\u3082\u306b\u3001\u5c0f\u984e\u75c7\uff08\u984e\u306e\u5c0f\u3055\u3055\uff09\u3084\u5c0f\u53e3\u75c7\uff08\u53e3\u306e\u5c0f\u3055\u3055\uff09\u3092\u7279\u5fb4\u3068\u3057\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u53e3\u84cb\u88c2\u3082\u4f34\u3044\u307e\u3059\u3002\u53e3\u84cb\u88c2\u306f\u3001\u53e3\u306e\u4e0a\u90e8\u306b\u958b\u53e3\u90e8\u304c\u3067\u304d\u3001\u767a\u8a71\u3084\u6388\u4e73\u306b\u652f\u969c\u3092\u304d\u305f\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>SHFM\u306e\u7ba1\u7406\u306f\u3001\u60a3\u8005\u3054\u3068\u306e\u5177\u4f53\u7684\u306a\u75c7\u72b6\u3068\u8ab2\u984c\u306b\u5bfe\u5fdc\u3059\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u91cd\u5ea6\u306e\u56db\u80a2\u306e\u7570\u5e38\u3092\u6301\u3064\u60a3\u8005\u306b\u306f\u3001\u6307\u306e\u7652\u7740\u3092\u5206\u3051\u305f\u308a\u3001\u6b20\u3051\u3066\u3044\u308b\u9aa8\u3092\u518d\u5efa\u3057\u305f\u308a\u3001\u3072\u3073\u5272\u308c\u3092\u4fee\u6b63\u3059\u308b\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u77e5\u7684\u307e\u305f\u306f\u767a\u9054\u7684\u306a\u8ab2\u984c\u304c\u3042\u308b\u5834\u5408\u3001\u8a00\u8a9e\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u307e\u305f\u306f\u5c02\u9580\u7684\u306a\u6559\u80b2\u30d7\u30ed\u30b0\u30e9\u30e0\u306a\u3069\u306e\u652f\u63f4\u304c\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u65e9\u671f\u8a3a\u65ad\u3068\u500b\u5225\u306e\u30b1\u30a2\u30d7\u30e9\u30f3\u304cSHFM\u60a3\u8005\u306e\u4e88\u5f8c\u3092\u6539\u5584\u3059\u308b\u305f\u3081\u306b\u306f\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002\u8eab\u4f53\u7684\u304a\u3088\u3073\u767a\u9054\u7684\u306a\u5074\u9762\u306e\u4e21\u65b9\u306b\u5bfe\u5fdc\u3059\u308b\u5305\u62ec\u7684\u306a\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u305f\u3081\u306b\u5fc5\u8981\u3067\u3059\u3002\u9069\u5207\u306a\u533b\u7642\u3068\u6cbb\u7642\u4ecb\u5165\u306b\u3088\u3063\u3066\u3001\u591a\u304f\u306eSHFM\u60a3\u8005\u306f\u5145\u5b9f\u3057\u305f\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u304c\u3001\u305d\u306e\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u306b\u3088\u3063\u3066\u5fc5\u8981\u306a\u30b1\u30a2\u3084\u4ecb\u5165\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B0%86%E6%9D%A5%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97\"><\/span>\u5c06\u6765\u306e\u898b\u901a\u3057<span 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style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24156031_s.jpg\" alt=\"\u5b50\u3069\u3082\u3092\u611b\u3055\u306a\u3044\u3068\" class=\"wp-image-87708\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\"><\/span>\u5f15\u7528\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.3390\/microarrays5010002\">Li, C. F., Angione, K., &amp; Milunsky, J. M. (2015). Identification of Critical Region Responsible for Split Hand\/Foot Malformation Type 3 (SHFM3) Phenotype through Systematic Review of Literature and Mapping of Breakpoints Using Microarray Data. <em>Microarrays (Basel, Switzerland)<\/em>, <em>5<\/em>(1), 2. https:\/\/doi.org\/10.3390\/microarrays5010002<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1086\/302403\">\u00d6zen, R. S., Baysal, B. E., Devlin, B., Farr, J. E., Gorry, M., Ehrlich, G. D., &amp; Richard, C. W. (1999). Fine mapping of the split-hand\/split-foot locus (Shfm3) at 10q24: Evidence for anticipation and segregation distortion. <em>The American Journal of Human Genetics<\/em>, <em>64<\/em>(6), 1646\u20131654. https:\/\/doi.org\/10.1086\/302403<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/ajmg.a.31244\">Elliott, A. M., &amp; Evans, J. A. (2006). Genotype\u2013phenotype correlations in mapped split hand foot malformation (Shfm) patients. <em>American Journal of Medical Genetics Part A<\/em>, <em>140A<\/em>(13), 1419\u20131427. https:\/\/doi.org\/10.1002\/ajmg.a.31244<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/6319\/split-hand-foot-malformation\">Split hand foot malformation. Genetic and Rare Diseases Information Center (GARD).Updated January 22, 2014. https:\/\/rarediseases.info.nih.gov\/diseases\/6319\/split-hand-foot-malformation.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/hmg\/ddg212\">Xavier J. de Mollerat, Fiorella Gurrieri, Chad T. Morgan, Eugenio Sangiorgi, David B. Everman, Paola Gaspari, Jeanne Amiel, Michael J. Bamshad, Robert Lyle, Jean-Louis Blouin, Judith E. Allanson, Bernard Le Marec, Melba Wilson, Nancy E. Braverman, Uppala Radhakrishna, Celia Delozier-Blanchet, Albert Abbott, Vincent Elghouzzi, Stylianos Antonarakis, Roger E. Stevenson, Arnold Munnich, Giovanni Neri, Charles E. Schwartz, A genomic rearrangement resulting in a tandem duplication is associated with split hand\u2013split foot malformation 3 (SHFM3) at 10q24, <em>Human Molecular Genetics<\/em>, Volume 12, Issue 16, 15 August 2003, Pages 1959\u20131971, https:\/\/doi.org\/10.1093\/hmg\/ddg212<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41467-023-37057-z\">Cova, G., Glaser, J., Sch\u00f6pflin, R. <em>et al.<\/em> Combinatorial effects on gene expression at the <em>Lbx1<\/em>\/<em>Fgf8<\/em> locus resolve split-hand\/foot malformation type 3. <em>Nat Commun<\/em> <strong>14<\/strong>, 1475 (2023). https:\/\/doi.org\/10.1038\/s41467-023-37057-z<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.devcel.2013.01.025\">Marini\u0107, M., Aktas, T., Ruf, S., &amp; Spitz, F. (2013). An integrated holo-enhancer unit defines tissue and gene specificity of the fgf8 regulatory landscape. <em>Developmental Cell<\/em>, <em>24<\/em>(5), 530\u2013542. https:\/\/doi.org\/10.1016\/j.devcel.2013.01.025<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/dx.doi.org\/10.24911\/JBCGenetics\/183-1672021989\">Abbas, S., Khan, . H., Alam, . Q., Mahmood, . A. &amp; Umair, . M. (2023) Genetic advances in skeletal disorders: an overview. <em>Journal of Biochemical and Clinical Genetics<\/em>, 6 (1), 57-69. doi:10.24911\/JBCGenetics\/183-1672021989<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.omim.org\/entry\/246560\">Online Mendelian Inheritance in Man. (Last updated February 2013 by Marla J. F. O&#8217;Neill). Retreived from https:\/\/www.omim.org\/entry\/246560<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkae974\">Perez, G., Barber, G. P., Benet-Pages, A., Casper, J., Clawson, H., Diekhans, M., Fischer, C., Gonzalez, J. N., Hinrichs, A. S., Lee, C. M., Nassar, L. R., Raney, B. J., Speir, M. L., van Baren, M. J., Vaske, C. J., Haussler, D., Kent, W. J., &amp; Haeussler, M. (2024). The UCSC Genome Browser database: 2025 update. Nucleic Acids Research, gkae974. https:\/\/doi.org\/10.1093\/nar\/gkae974<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkad1049\">Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., Bhurji, S. K., Boddu, S., Branco Lins, P. R., Brooks, L., Budhanuru Ramaraju, S., Campbell, L. I., Carbajo Martinez, M., Charkhchi, M., Chougule, K., \u2026 Yates, A. D. (2024). Ensembl 2024. Nucleic Acids Research, 52(D1), D891\u2013D899. https:\/\/doi.org\/10.1093\/nar\/gkad1049<\/a><\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081SHFM3\uff08\u5206\u88c2\u624b\u8db3\u5947\u5f62&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3-q23-2-deletion-syndrome\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":90076,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[58],"tags":[33,43,49,73],"class_list":["post-83543","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genetic-disorder","tag-symptom","tag-gene","tag-genetic-disease","tag-deletion-syndrome"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83543","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/101"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=83543"}],"version-history":[{"count":26,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83543\/revisions"}],"predecessor-version":[{"id":125366,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83543\/revisions\/125366"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/90076"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=83543"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=83543"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=83543"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}