{"id":83599,"date":"2024-11-15T15:57:33","date_gmt":"2024-11-15T06:57:33","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83599"},"modified":"2025-08-25T09:41:46","modified_gmt":"2025-08-25T00:41:46","slug":"yuan-harel-lupski-syndrome-yuhal-17p12","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/yuan-harel-lupski-syndrome-yuhal-17p12\/","title":{"rendered":"Yuan-Harel-Lupski\u75c7\u5019\u7fa4 (YUHAL) &#8211; 17p12"},"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>\u30e6\u30a2\u30f3-\u30cf\u30ec\u30eb-\u30eb\u30d7\u30b9\u30ad\u75c7\u5019\u7fa4\uff08Yuan-Harel-Lupski Syndrome\uff09\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u91cd\u8907\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7a00\u306a\u75be\u60a3\u3067\u3001\u30dd\u30c8\u30c4\u30ad-\u30eb\u30d7\u30b9\u30ad\u75c7\u5019\u7fa4\u3084\u30b7\u30e3\u30eb\u30b3\u30fc-\u30de\u30ea\u30fc-\u30c8\u30a5\u30fc\u30b9\u75c5\u306b\u985e\u4f3c\u3057\u305f\u7279\u5fb4\u3092\u793a\u3057\u307e\u3059\u3002\u4f4e\u7b4b\u7dca\u5f35\u3001\u767a\u9054\u9045\u5ef6\u3001\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u3001\u5fc3\u81d3\u3084\u814e\u81d3\u306e\u7570\u5e38\u306a\u3069\u591a\u69d8\u306a\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u305f\u3081\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u5305\u62ec\u7684\u306a\u30b1\u30a2\u304c\u91cd\u8981\u3067\u3059\u3002<\/p><\/div>\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\/yuan-harel-lupski-syndrome-yuhal-17p12\/#%E7%97%85%E6%B0%97%E3%81%AE%E5%88%A5%E7%A7%B0\" >\u75c5\u6c17\u306e\u5225\u79f0<\/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\/yuan-harel-lupski-syndrome-yuhal-17p12\/#%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\/yuan-harel-lupski-syndrome-yuhal-17p12\/#%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\/yuan-harel-lupski-syndrome-yuhal-17p12\/#%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\/yuan-harel-lupski-syndrome-yuhal-17p12\/#%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\/yuan-harel-lupski-syndrome-yuhal-17p12\/#%E3%82%82%E3%81%A3%E3%81%A8%E7%9F%A5%E3%82%8A%E3%81%9F%E3%81%84%E6%96%B9%E3%81%B8\" >\u3082\u3063\u3068\u77e5\u308a\u305f\u3044\u65b9\u3078<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/yuan-harel-lupski-syndrome-yuhal-17p12\/#%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=\"%E7%97%85%E6%B0%97%E3%81%AE%E5%88%A5%E7%A7%B0\"><\/span>\u75c5\u6c17\u306e\u5225\u79f0<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>PMP22-RAI1\u9023\u7d9a\u907a\u4f1d\u5b50\u91cd\u8907\u75c7\u5019\u7fa4\uff08PMP22-RAI1 contiguous gene duplication syndrome\uff09<\/li>\n\n\n\n<li>17p11.2p12 \u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4\uff0817p11.2p12 microduplication syndrome\uff09<\/li>\n\n\n\n<li>Dup(17)(p11.2p12)<\/li>\n\n\n\n<li>Trisomy 17p11.2-p12<\/li>\n\n\n\n<li>Trisomy 17p11.2p12<\/li>\n\n\n\n<li>Yuan-Harel-Lupski syndrome<\/li>\n<\/ul>\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=\"23\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/3d20ec88ba970b875bc47265eda94ccd-1024x23.png\" alt=\"17p11.2p12\" class=\"wp-image-88892\" style=\"width:890px;height:auto\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30e6\u30a2\u30f3-\u30cf\u30ec\u30eb-\u30eb\u30d7\u30b9\u30ad\u75c7\u5019\u7fa4\uff08Yuan-Harel-Lupski Syndrome, YUHAL\uff09\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306e\u4e00\u90e8\u304c\u90e8\u5206\u7684\u306b\u91cd\u8907\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7a00\u306a\u795e\u7d4c\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u30dd\u30c8\u30c4\u30ad-\u30eb\u30d7\u30b9\u30ad\u75c7\u5019\u7fa4\uff08Potocki-Lupski Syndrome\uff09\u30681A\u578b\u30b7\u30e3\u30eb\u30b3\u30fc-\u30de\u30ea\u30fc-\u30c8\u30a5\u30fc\u30b9\u75c5\uff08Charcot-Marie-Tooth disease, CMT1A\uff09\u306e\u7279\u5fb4\u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u75c7\u72b6\u3092\u793a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>YUHAL\u75c7\u5019\u7fa4\u306e\u6700\u521d\u306e\u5146\u5019\u306f\u901a\u5e38\u3001\u4e73\u5150\u671f\u306b\u73fe\u308c\u307e\u3059\u3002\u5f71\u97ff\u3092\u53d7\u3051\u305f\u4e73\u5150\u306f\u3057\u3070\u3057\u3070\u7b4b\u8089\u306e\u7dca\u5f35\u304c\u5f31\u3044\u72b6\u614b\uff08\u4f4e\u7b4b\u7dca\u5f35\uff09\u3092\u793a\u3057\u3001\u3053\u308c\u306b\u3088\u308a\u6442\u98df\u56f0\u96e3\u3084\u6210\u9577\u969c\u5bb3\uff08\u4f53\u91cd\u3084\u8eab\u9577\u306e\u5897\u52a0\u4e0d\u826f\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u904b\u52d5\u30b9\u30ad\u30eb\uff08\u6b69\u884c\u306a\u3069\uff09\u3084\u8a00\u8a9e\u30b9\u30ad\u30eb\u306e\u767a\u9054\u304c\u9045\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3001\u884c\u52d5\u9762\u306e\u554f\u984c\u3001\u4f8b\u3048\u3070\u7761\u7720\u6642\u7121\u547c\u5438\u3084\u5165\u7720\u304a\u3088\u3073\u7761\u7720\u306e\u7dad\u6301\u304c\u96e3\u3057\u3044\u306a\u3069\u306e\u7761\u7720\u554f\u984c\u304c\u983b\u7e41\u306b\u898b\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u4e0b\u5411\u304d\u306e\u76ee\u306e\u89d2\u5ea6\uff08\u4e0b\u659c\u773c\u88c2\uff09\u3001\u4e09\u89d2\u5f62\u306e\u9854\u7acb\u3061\u3001\u76ee\u304c\u63c3\u308f\u306a\u3044\uff08\u659c\u8996\uff09\u306a\u3069\u3001\u5fae\u5999\u306a\u9854\u7acb\u3061\u306e\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u7279\u5fb4\u306f\u30dd\u30c8\u30c4\u30ad-\u30eb\u30d7\u30b9\u30ad\u75c7\u5019\u7fa4\u306b\u898b\u3089\u308c\u308b\u3082\u306e\u3068\u4f3c\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=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"480\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/25493238_s-edited.jpg\" alt=\"\u795e\u7d4c\u7d30\u80de\" class=\"wp-image-88908\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u5e7c\u5c11\u671f\u306b\u306f\u3001\u672b\u68a2\u795e\u7d4c\u306e\u640d\u50b7\u306b\u95a2\u9023\u3059\u308b\u8ffd\u52a0\u306e\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002\u672b\u68a2\u795e\u7d4c\u306f\u3001\u8133\u3084\u810a\u9ac4\u304b\u3089\u7b4b\u8089\u3084\u611f\u899a\u7d30\u80de\uff08\u89e6\u899a\u3001\u71b1\u3001\u51b7\u305f\u3055\u306a\u3069\u3092\u611f\u3058\u308b\u7d30\u80de\uff09\u3092\u3064\u306a\u3050\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u795e\u7d4c\u304c\u5f90\u3005\u306b\u640d\u50b7\u3055\u308c\u308b\u3053\u3068\u3067\u3001\u7279\u306b\u4e0b\u80a2\u306e\u7b4b\u529b\u4f4e\u4e0b\u304c\u9032\u884c\u3057\u3001\u6b69\u884c\u56f0\u96e3\u3084\u7570\u5e38\u306a\u6b69\u884c\u30b9\u30bf\u30a4\u30eb\u3092\u5f15\u304d\u8d77\u3053\u3059\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u6241\u5e73\u8db3\uff08\u30da\u30b9\u30d7\u30e9\u30cc\u30b9\uff09\u3001\u9ad8\u30a2\u30fc\u30c1\u8db3\uff08\u30da\u30b9\u30ab\u30d0\u30b9\uff09\u3001\u5185\u53cd\u8db3\uff08\u5185\u5074\u3084\u4e0a\u65b9\u306b\u5411\u3044\u305f\u8db3\uff09\u306a\u3069\u306e\u8db3\u306e\u7570\u5e38\u3082\u4e00\u822c\u7684\u3067\u3059\u3002\u4ed6\u306e\u75c7\u72b6\u3068\u3057\u3066\u3001\u53cd\u5c04\u306e\u6e1b\u5c11\u307e\u305f\u306f\u6d88\u5931\u3001\u8db3\u3084\u4e0b\u80a2\u306b\u304a\u3051\u308b\u89e6\u899a\u3084\u6e29\u5ea6\u611f\u899a\u306e\u4f4e\u4e0b\u3001\u7b4b\u8089\u306e\u840e\u7e2e\uff08\u30a2\u30c8\u30ed\u30d5\u30a3\u30fc\uff09\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75c7\u72b6\u306fCMT1A\u306b\u898b\u3089\u308c\u308b\u3082\u306e\u3068\u4f3c\u3066\u3044\u307e\u3059\u304c\u3001YUHAL\u75c7\u5019\u7fa4\u3067\u306f\u3057\u3070\u3057\u30705\u6b73\u672a\u6e80\u3067\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>YUHAL\u75c7\u5019\u7fa4\u3067\u306f\u3001\u5fc3\u81d3\u3084\u814e\u81d3\u306a\u3069\u306e\u7d44\u7e54\u3084\u81d3\u5668\u306e\u7570\u5e38\u3082\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u9854\u9762\u306e\u5f62\u614b\u7570\u5e38\uff08\u9854\u9762\u7570\u5f62\u6210\uff09\u304c\u89b3\u5bdf\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u7a00\u306a\u30b1\u30fc\u30b9\u3067\u306f\u3001\u810a\u9ac4\u5185\u306b\u6db2\u4f53\u304c\u305f\u307e\u308b\u56a2\u304c\u5f62\u6210\u3055\u308c\u308b\u75be\u60a3\u3067\u3042\u308b\u810a\u9ac4\u7a7a\u6d1e\u75c7\uff08\u30b7\u30ea\u30f3\u30b4\u30df\u30a8\u30ea\u30a2\uff09\u304c\u767a\u751f\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>YUHAL\u75c7\u5019\u7fa4\u306f\u3001\u8907\u6570\u306e\u8eab\u4f53\u30b7\u30b9\u30c6\u30e0\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u591a\u69d8\u306a\u75c7\u72b6\u3092\u7279\u5fb4\u3068\u3057\u3066\u304a\u308a\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u591a\u8077\u7a2e\u306b\u3088\u308b\u5305\u62ec\u7684\u306a\u30b1\u30a2\u304c\u5fc5\u8981\u3067\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\/bartter-syndrome-bsnd-type4a\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30d0\u30fc\u30c1\u30f3\u95a2\u9023Bartter\u75c7\u5019\u7fa4\uff08\u30bf\u30a4\u30d7IVa\uff09\u3010BSND\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">BSND\u907a\u4f1d\u5b50\u306b\u95a2\u9023\u3059\u308bBartter\u75c7\u5019\u7fa4\uff08\u30bf\u30a4\u30d7IVa\uff09\u306f\u3001\u814e\u81d3\u306e\u5869\u5206\u8abf\u6574\u306e\u7570\u5e38\u306b\u3088\u308a\u3001\u4f4e\u30ab\u30ea\u30a6\u30e0\u8840\u75c7\u3084\u96e3\u8074\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u75c7\u72b6\u30fb\u691c\u67fb...<\/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%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>\u9023\u7d9a\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3068\u306f\u3001\u67d3\u8272\u4f53\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u8907\u6570\u306e\u96a3\u63a5\u3057\u305f\u907a\u4f1d\u5b50\u304c\u5f71\u97ff\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u308c\u3089\u306e\u7570\u5e38\u306f\u3001\u67d3\u8272\u4f53\u4e0a\u306e\u907a\u4f1d\u5b50\u306e\u914d\u7f6e\u3084\u30b3\u30d4\u30fc\u6570\uff08\u91cf\uff09\u3092\u4e71\u3057\u3001\u907a\u4f1d\u5b50\u304c\u6b63\u3057\u304f\u6a5f\u80fd\u3057\u306a\u304f\u306a\u3063\u305f\u308a\u3001\u907a\u4f1d\u5b50\u306e\u30b3\u30d4\u30fc\u6570\u304c\u591a\u3059\u304e\u305f\u308a\u5c11\u306a\u3059\u304e\u305f\u308a\u3059\u308b\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306a\u75c7\u5019\u7fa4\u306f\u3001\u901a\u5e38\u7a00\u3067\u3001\u907a\u4f1d\u3059\u308b\u3053\u3068\u306f\u307b\u3068\u3093\u3069\u306a\u304f\u3001\u75c7\u72b6\u3084\u91cd\u75c7\u5ea6\u306b\u5e45\u5e83\u3044\u5909\u5316\u304c\u898b\u3089\u308c\u308b\uff08\u9ad8\u3044\u591a\u69d8\u6027\u304c\u3042\u308b\uff09\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u30021\u3064\u306e\u907a\u4f1d\u5b50\u306b\u5c0f\u3055\u306a\u5909\u5316\uff08\u70b9\u7a81\u7136\u5909\u7570\uff09\u304c\u751f\u3058\u308b\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u907a\u4f1d\u75c5\u3068\u306f\u7570\u306a\u308a\u3001\u9023\u7d9a\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u306fDNA\u306e\u5927\u304d\u306a\u30bb\u30af\u30b7\u30e7\u30f3\u304c\u518d\u7de8\u6210\u3055\u308c\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u305f\u3081\u3001\u3053\u308c\u3089\u306f\u300c\u30b2\u30ce\u30e0\u969c\u5bb3\u300d\u3068\u3057\u3066\u5206\u985e\u3055\u308c\u307e\u3059\u3002\u30b2\u30ce\u30e0\u969c\u5bb3\u3068\u306f\u3001\u907a\u4f1d\u5b50\u5168\u4f53\u306e\u898f\u6a21\u3067\u5909\u5316\u304c\u8d77\u3053\u308b\u75be\u60a3\u3092\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u3046\u3057\u305f\u518d\u7de8\u6210\u306e\u4e00\u822c\u7684\u306a\u7d50\u679c\u306e1\u3064\u3068\u3057\u3066\u3001\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff08CNV\uff09\u306e\u5f62\u6210\u304c\u3042\u308a\u307e\u3059\u3002CNV\u306f\u3001DNA\u306e\u69cb\u9020\u7684\u306a\u5909\u5316\u306e\u3053\u3068\u3067\u3001DNA\u306e\u4e00\u90e8\u304c\u8907\u88fd\uff08\u4f59\u5206\u306a\u30b3\u30d4\u30fc\u304c\u4f5c\u3089\u308c\u308b\uff09\u3055\u308c\u305f\u308a\u3001\u524a\u9664\uff08\u30b3\u30d4\u30fc\u304c\u6b20\u640d\u3059\u308b\uff09\u3055\u308c\u305f\u308a\u3057\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u5909\u7570\u306f\u9855\u5fae\u93e1\u3067\u898b\u308b\u306b\u306f\u5c0f\u3055\u3059\u304e\u307e\u3059\u304c\u3001\u907a\u4f1d\u5b50\u306e\u6b63\u5e38\u306a\u6a5f\u80fd\u3092\u59a8\u3052\u308b\u307b\u3069\u306e\u5927\u304d\u3055\u304c\u3042\u308a\u307e\u3059\u3002CNV\u306e\u30b5\u30a4\u30ba\u306f\u6570\u5343\u5869\u57fa\u5bfe\uff08\u30ad\u30ed\u30d9\u30fc\u30b9\u3001kb\uff09\u304b\u3089\u6570\u767e\u4e07\u5869\u57fa\u5bfe\uff08\u30e1\u30ac\u30d9\u30fc\u30b9\u3001Mb\uff09\u307e\u3067\u3055\u307e\u3056\u307e\u3067\u3042\u308a\u3001\u901a\u5e38\u306e\u72b6\u614b\uff08\u5404\u907a\u4f1d\u5b50\u304c\u4e21\u89aa\u304b\u30891\u30b3\u30d4\u30fc\u305a\u3064\u5408\u8a082\u30b3\u30d4\u30fc\u6301\u3064\u72b6\u614b\uff09\u304b\u3089\u306e\u504f\u308a\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:23px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31295073_s.jpg\" alt=\"\u304a\u3066\u3066\" class=\"wp-image-87378\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u9023\u7d9a\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u306e\u4e00\u4f8b\u3068\u3057\u3066\u3001\u30dd\u30c8\u30c4\u30ad-\u30eb\u30d7\u30b9\u30ad\u75c7\u5019\u7fa4\uff08Potocki-Lupski Syndrome, PTLS\uff09\u306b\u95a2\u9023\u3059\u308b\u30b2\u30ce\u30e0\u91cd\u8907\u3068\u3001\u30b7\u30e3\u30eb\u30b3\u30fc-\u30de\u30ea\u30fc-\u30c8\u30a5\u30fc\u30b9\u75c51A\u578b\uff08Charcot-Marie-Tooth disease type 1A, CMT1A\uff09\u306b\u95a2\u9023\u3059\u308b\u30b2\u30ce\u30e0\u91cd\u8907\u304c\u3042\u308a\u307e\u3059\u3002PTLS\u306f\u3001\u4f4e\u7b4b\u7dca\u5f35\uff08\u7b4b\u8089\u306e\u7dca\u5f35\u304c\u5f31\u3044\u72b6\u614b\uff09\u3001\u6210\u9577\u4e0d\u826f\uff08failure to thrive\uff09\u3001\u4f53\u91cd\u306e\u6e1b\u5c11\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u306b\u95a2\u9023\u3059\u308b\u7279\u5fb4\u3092\u793a\u3057\u307e\u3059\u3002\u4e00\u65b9\u3001CMT1A\u306f\u3001\u672b\u68a2\u795e\u7d4c\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u4e00\u822c\u7684\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3001\u624b\u8db3\u306e\u7b4b\u529b\u4f4e\u4e0b\u3084\u7b4b\u8089\u306e\u840e\u7e2e\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u300c\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u300d\u3068\u3055\u308c\u3001\u7247\u65b9\u306e\u89aa\u304b\u3089\u5909\u7570\u907a\u4f1d\u5b50\u30921\u3064\u53d7\u3051\u7d99\u3050\u3060\u3051\u3067\u767a\u75c7\u3059\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u75be\u60a3\u306b\u95a2\u9023\u3059\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u306f\u3001PTLS\u306b\u95a2\u4e0e\u3059\u308bRAI1\u907a\u4f1d\u5b50\u3068\u3001CMT1A\u306b\u95a2\u4e0e\u3059\u308bPMP22\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u308c\u3089\u306f\u3069\u3061\u3089\u3082\u30b3\u30d4\u30fc\u6570\u306b\u654f\u611f\u306a\u907a\u4f1d\u5b50\uff08\u30b3\u30d4\u30fc\u6570\u304c\u6b63\u5e38\u3067\u306a\u3044\u3068\u6a5f\u80fd\u306b\u554f\u984c\u304c\u751f\u3058\u308b\u907a\u4f1d\u5b50\uff09\u3067\u3059\u3002PTLS\u304a\u3088\u3073CMT1A\u306e\u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u306f\u3001\u975e\u30a2\u30ec\u30ea\u6027\u76f8\u540c\u7d44\u63db\u3048\u3068\u547c\u3070\u308c\u308b\u904e\u7a0b\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u53cd\u5fa9\u7684\u306a\u91cd\u8907\u306b\u8d77\u56e0\u3057\u307e\u3059\u3002\u3053\u306e\u904e\u7a0b\u306f\u3001\u30b2\u30ce\u30e0\u5185\u306e\u7279\u5b9a\u306e\u4f4e\u30b3\u30d4\u30fc\u7e70\u308a\u8fd4\u3057\u9818\u57df\uff08LCR\uff09\u9593\u3067\u3001\u7d30\u80de\u5206\u88c2\u4e2d\u306b\u8aa4\u3063\u305f\u4e26\u3073\u304c\u8d77\u3053\u308b\u3053\u3068\u3067\u767a\u751f\u3057\u307e\u3059\u3002\u3057\u304b\u3057\u3001RAI1\u3068PMP22\u306e\u8fd1\u304f\u306b\u3042\u308bLCR\u306f\u975e\u5e38\u306b\u4f3c\u3066\u3044\u308b\u308f\u3051\u3067\u306f\u306a\u3044\u305f\u3081\u3001\u4e21\u65b9\u306e\u907a\u4f1d\u5b50\u3092\u542b\u3080\u91cd\u8907\u306f\u7a00\u3067\u3042\u308a\u3001\u7570\u306a\u308b\u7a81\u7136\u5909\u7570\u306e\u4ed5\u7d44\u307f\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>PTLS\u306e\u767a\u75c7\u7387\u306f\u7d0450,000\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001\u30b7\u30e3\u30eb\u30b3\u30fc-\u30de\u30ea\u30fc-\u30c8\u30a5\u30fc\u30b9\u75c5\uff08CMT\uff09\u306f\u305d\u306e\u907a\u4f1d\u7684\u30b5\u30d6\u30bf\u30a4\u30d7\u5168\u4f53\uff08\u6700\u3082\u4e00\u822c\u7684\u306aCMT1A\u3092\u542b\u3080\uff09\u3092\u542b\u3081\u3066\u3001\u7d042,500\u4eba\u306b1\u4eba\u306e\u5272\u5408\u3067\u767a\u75c7\u3057\u307e\u3059\u3002PTLS\u3068CMT1A\u304c\u305d\u308c\u305e\u308c\u72ec\u7acb\u3057\u305f\u51fa\u6765\u4e8b\u3068\u3057\u3066\u767a\u751f\u3059\u308b\u5834\u5408\u3001\u4e21\u65b9\u3092\u540c\u6642\u306b\u6301\u3064\u53ef\u80fd\u6027\u306f\u975e\u5e38\u306b\u7a00\u3067\u3001\u7d041\u51042,500\u4e07\u5206\u306e1\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001PTLS\u3068CMT1A\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u306f\u540c\u3058\u67d3\u8272\u4f53\u4e0a\u3067\u6bd4\u8f03\u7684\u8fd1\u3044\u5834\u6240\uff08\u7d042.5Mb\u306e\u8ddd\u96e2\uff09\u306b\u4f4d\u7f6e\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u5358\u4e00\u306e\u7a81\u7136\u5909\u7570\u306b\u3088\u3063\u3066\u3053\u308c\u3089\u4e21\u65b9\u306e\u907a\u4f1d\u5b50\u3092\u542b\u3080DNA\u30bb\u30b0\u30e1\u30f3\u30c8\u304c\u91cd\u8907\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u305f\u3081\u3001\u4e21\u65b9\u306e\u75be\u60a3\u306e\u7279\u5fb4\u3092\u4f75\u305b\u6301\u3064\u4eba\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\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=\"517\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chr17-MdXGaCTBRRJLYCPCXYAAATVR.png\" alt=\"chr17\" class=\"wp-image-88614\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u907a\u4f1d\u7684\u7570\u5e38\u3092\u691c\u51fa\u3059\u308b\u305f\u3081\u306e\u8a3a\u65ad\u65b9\u6cd5\u3068\u3057\u3066\u3001p11.2p12\u67d3\u8272\u4f53\u9818\u57df\u306b\u95a2\u9023\u3059\u308b\u3082\u306e\u306b\u306f\u3001\u86cd\u5149 in situ \u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff08FISH\uff09\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u7279\u5b9a\u306eDNA\u914d\u5217\u3092\u8b58\u5225\u3059\u308b\u305f\u3081\u306b\u86cd\u5149\u30d7\u30ed\u30fc\u30d6\u3092\u4f7f\u7528\u3059\u308b\u624b\u6cd5\u3067\u3059\u3002\u307e\u305f\u300117p\u9818\u57df\u306e\u9ad8\u89e3\u50cf\u5ea6\u30b2\u30ce\u30e0\u89e3\u6790\u3067\u306f\u3001\u30aa\u30ea\u30b4\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u30a2\u30ec\u30a4\u6bd4\u8f03\u30b2\u30ce\u30e0\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff08aCGH\uff09\u3068\u547c\u3070\u308c\u308b\u65b9\u6cd5\u304c\u4e00\u822c\u7684\u306b\u4f7f\u7528\u3055\u308c\u3066\u304a\u308a\u3001\u907a\u4f1d\u7269\u8cea\u306e\u5c0f\u3055\u306a\u91cd\u8907\u3084\u6b20\u5931\u3092\u975e\u5e38\u306b\u9ad8\u3044\u7cbe\u5ea6\u3067\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u30de\u30a4\u30af\u30ed\u30b5\u30c6\u30e9\u30a4\u30c8\u30de\u30fc\u30ab\u30fc\u3092\u4f7f\u7528\u3057\u305f\u5206\u5b50\u7814\u7a76\u306f\u3001DNA\u5185\u306e\u7279\u5b9a\u306e\u30d1\u30bf\u30fc\u30f3\u3092\u8b58\u5225\u3059\u308b\u3053\u3068\u3067\u3001\u3055\u3089\u306a\u308b\u7cbe\u5ea6\u3092\u63d0\u4f9b\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u598a\u5a20\u4e2d\u306e\u8a3a\u65ad\u3092\u78ba\u5b9a\u3059\u308b\u305f\u3081\u306b\u3001\u7f8a\u6c34\u7a7f\u523a\u304c\u4f7f\u7528\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u624b\u6cd5\u3067\u306f\u3001\u5b50\u5bae\u304b\u3089\u5c11\u91cf\u306e\u7f8a\u6c34\u3092\u63a1\u53d6\u3057\u307e\u3059\u3002\u3057\u304b\u3057\u3001DNA\u914d\u5217\u89e3\u6790\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\u304c\u4fe1\u983c\u6027\u306e\u9ad8\u3044\u5b89\u5168\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u65b9\u6cd5\u3068\u3057\u3066\u5c0e\u5165\u3055\u308c\u307e\u3057\u305f\u3002NIPT\u306f\u6bcd\u4f53\u306e\u8840\u6db2\u4e2d\u306b\u542b\u307e\u308c\u308b\u80ce\u5150\u306eDNA\u65ad\u7247\u3092\u5206\u6790\u3059\u308b\u65b9\u6cd5\u3067\u3042\u308a\u3001\u6bcd\u4f53\u3068\u80ce\u5150\u306e\u4e21\u65b9\u306b\u30ea\u30b9\u30af\u3092\u4e0e\u3048\u306a\u3044\u4ee3\u66ff\u624b\u6bb5\u3068\u3057\u3066\u3001\u907a\u4f1d\u7684\u7570\u5e38\u3092\u6b63\u78ba\u306b\u65e9\u671f\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" 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%96%BE%E6%82%A3%E3%81%AE%E7%97%87%E7%8A%B6%E3%81%A8%E7%AE%A1%E7%90%86%E6%96%B9%E6%B3%95\"><\/span>\u75be\u60a3\u306e\u75c7\u72b6\u3068\u7ba1\u7406\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306b\u95a2\u9023\u3059\u308b\u75c7\u72b6\u306f\u3001\u8eab\u4f53\u7684\u3001\u767a\u9054\u7684\u3001\u795e\u7d4c\u7cbe\u795e\u7684\u306a\u554f\u984c\u3092\u5e83\u7bc4\u56f2\u306b\u308f\u305f\u3063\u3066\u542b\u307f\u3001\u305d\u306e\u8907\u96d1\u306a\u7279\u6027\u3092\u53cd\u6620\u3057\u3066\u3044\u307e\u3059\u3002\u767a\u9054\u306e\u9045\u308c\u306f\u3001\u3053\u306e\u75be\u60a3\u306e\u9855\u8457\u306a\u7279\u5fb4\u3067\u3042\u308a\u3001\u305d\u306e\u7a0b\u5ea6\u306f\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u3055\u307e\u3056\u307e\u3067\u3059\u3002\u3053\u306e\u9045\u308c\u306b\u306f\u3001\u8a00\u8a9e\u7fd2\u5f97\u3084\u5168\u822c\u7684\u306a\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u306a\u3069\u3001\u8a00\u8a9e\u3084\u8a8d\u77e5\u306b\u304a\u3051\u308b\u8ab2\u984c\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u4f4e\u7b4b\u7dca\u5f35\uff08\u7b4b\u8089\u306e\u7dca\u5f35\u304c\u4f4e\u3044\u72b6\u614b\uff09\u306f\u4e73\u5150\u671f\u306b\u3088\u304f\u898b\u3089\u308c\u3001\u6442\u98df\u56f0\u96e3\u3084\u4f53\u91cd\u5897\u52a0\u4e0d\u826f\uff08\u6210\u9577\u969c\u5bb3\uff09\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u305d\u306e\u4ed6\u306e\u8eab\u4f53\u7684\u75c7\u72b6\u3068\u3057\u3066\u306f\u3001\u77ed\u982d\u75c7\u3084\u5c0f\u982d\u75c7\uff08\u982d\u90e8\u304c\u77ed\u3044\u307e\u305f\u306f\u5c0f\u3055\u3044\u72b6\u614b\uff09\u3001\u4f4e\u8eab\u9577\u3001\u9854\u306e\u5f62\u614b\u7570\u5e38\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5f71\u97ff\u3092\u53d7\u3051\u305f\u500b\u4eba\u306b\u304a\u3044\u3066\u3088\u304f\u898b\u3089\u308c\u308b\u9854\u306e\u7279\u5fb4\u306b\u306f\u3001\u4e09\u89d2\u5f62\u306e\u9854\u3001\u3075\u3063\u304f\u3089\u3068\u3057\u305f\u982c\u3001\u6ed1\u3089\u304b\u306a\u4eba\u4e2d\uff08\u9f3b\u3068\u4e0a\u5507\u306e\u9593\u306e\u6e9d\uff09\u3001\u8584\u3044\u4e0a\u5507\u3001\u4e0d\u898f\u5247\u306a\u5f62\u306e\u7709\u3001\u307e\u3070\u3089\u306a\u9aea\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002\u4ed6\u306e\u7279\u5fb4\u3068\u3057\u3066\u3001\u76ee\u5c3b\u304c\u4e0b\u5411\u304d\u306b\u306a\u3063\u3066\u3044\u308b\uff08\u4e0b\u659c\u773c\u88c2\uff09\u3001\u773c\u9593\u9694\u304c\u5e83\u3044\uff08\u773c\u9593\u89e3\u96e2\uff09\u3001\u6b6f\u306e\u4e0d\u6b63\u54ac\u5408\u3001\u6df1\u3044\u624b\u638c\u7dda\uff08\u624b\u306e\u3072\u3089\u306e\u3057\u308f\uff09\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u4e00\u90e8\u306e\u4eba\u306b\u306f\u3001\u9577\u304f\u67d4\u8edf\u306a\u6307\u3084\u5148\u5929\u6027\u80a1\u95a2\u7bc0\u8131\u81fc\u3001\u5185\u53cd\u8db3\uff08\u8db3\u304c\u5185\u5074\u307e\u305f\u306f\u4e0a\u5411\u304d\u306b\u66f2\u304c\u308b\u72b6\u614b\uff09\u306a\u3069\u306e\u69cb\u9020\u7684\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\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=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/25617060_s.jpg\" alt=\"\u7247\u624b\u3067\u80a9\u307d\u3093\" class=\"wp-image-88173\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u795e\u7d4c\u7cbe\u795e\u7684\u306a\u75c7\u72b6\u3082\u4e00\u822c\u7684\u3067\u3001\u884c\u52d5\u4e0a\u306e\u554f\u984c\u3001\u4e0d\u5b89\u3001\u6ce8\u610f\u6b20\u9665\u591a\u52d5\u6027\u969c\u5bb3\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u304c\u983b\u7e41\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e00\u90e8\u306e\u4eba\u306f\u3001\u53cc\u6975\u6027\u969c\u5bb3\u306a\u3069\u306e\u3088\u308a\u91cd\u5ea6\u306e\u795e\u7d4c\u7cbe\u795e\u7684\u75be\u60a3\u3092\u7d4c\u9a13\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8a00\u8a9e\u8868\u73fe\u3084\u7406\u89e3\u304c\u5927\u5e45\u306b\u56f0\u96e3\u306b\u306a\u308b\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u969c\u5bb3\u3082\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u9589\u585e\u6027\u7761\u7720\u6642\u7121\u547c\u5438\u3084\u4e2d\u67a2\u6027\u7761\u7720\u6642\u7121\u547c\u5438\u306a\u3069\u306e\u7761\u7720\u969c\u5bb3\u3082\u4e00\u822c\u7684\u3067\u3001\u5168\u4f53\u7684\u306a\u5065\u5eb7\u72b6\u614b\u3084\u8a8d\u77e5\u6a5f\u80fd\u3092\u60aa\u5316\u3055\u305b\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5fc3\u8840\u7ba1\u7cfb\u306e\u7570\u5e38\u3082\u3053\u306e\u75be\u60a3\u306b\u3088\u304f\u95a2\u9023\u3057\u3066\u304a\u308a\u3001\u62e1\u5f35\u3057\u305f\u5927\u52d5\u8108\u6839\u3001\u4e8c\u5c16\u5927\u52d5\u8108\u5f01\u3001\u4e2d\u9694\u6b20\u640d\uff08\u5fc3\u5ba4\u3084\u5fc3\u623f\u3092\u5206\u3051\u308b\u58c1\u306b\u7a74\u304c\u3042\u308b\u72b6\u614b\uff09\u306a\u3069\u306e\u69cb\u9020\u7684\u7570\u5e38\u304b\u3089\u3001\u7d99\u7d9a\u7684\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3084\u4ecb\u5165\u304c\u5fc5\u8981\u306a\u6a5f\u80fd\u7684\u554f\u984c\u307e\u3067\u3055\u307e\u3056\u307e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u7ba1\u7406\u306b\u306f\u3001\u500b\u3005\u306e\u75c7\u72b6\u3084\u30cb\u30fc\u30ba\u306b\u5408\u308f\u305b\u305f\u591a\u8077\u7a2e\u306b\u3088\u308b\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u5fc5\u8981\u3067\u3059\u3002\u8eab\u4f53\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u8a00\u8a9e\u7642\u6cd5\u3092\u542b\u3080\u65e9\u671f\u4ecb\u5165\u7642\u6cd5\u306f\u3001\u767a\u9054\u306e\u9045\u308c\u306b\u5bfe\u51e6\u3057\u3001\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\u3002\u5fc3\u8840\u7ba1\u306e\u7570\u5e38\u3084\u795e\u7d4c\u7cbe\u795e\u7684\u306a\u75c7\u72b6\u3001\u305d\u306e\u4ed6\u306e\u533b\u5b66\u7684\u554f\u984c\u3092\u7ba1\u7406\u3059\u308b\u305f\u3081\u306b\u3001\u5c02\u9580\u533b\u306b\u3088\u308b\u5b9a\u671f\u7684\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u304c\u5fc5\u8981\u3067\u3059\u3002\u6442\u98df\u56f0\u96e3\u3078\u306e\u30b5\u30dd\u30fc\u30c8\u3001\u6b6f\u306e\u7570\u5e38\u306b\u5bfe\u3059\u308b\u30b1\u30a2\u3001\u80a1\u95a2\u7bc0\u8131\u81fc\u3084\u5185\u53cd\u8db3\u3068\u3044\u3063\u305f\u6574\u5f62\u5916\u79d1\u306e\u554f\u984c\u3078\u306e\u5bfe\u5fdc\u3082\u5305\u62ec\u7684\u30b1\u30a2\u306e\u4e00\u90e8\u3067\u3059\u3002\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u3001\u795e\u7d4c\u7cbe\u795e\u7684\u75c7\u72b6\u3001\u7761\u7720\u969c\u5bb3\u3001\u305d\u306e\u4ed6\u306e\u95a2\u9023\u75c7\u72b6\u3092\u7ba1\u7406\u3059\u308b\u305f\u3081\u306b\u85ac\u7269\u7642\u6cd5\u3084\u884c\u52d5\u7642\u6cd5\u304c\u5fc5\u8981\u3068\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5168\u4f53\u3068\u3057\u3066\u3001\u3053\u306e\u75be\u60a3\u3092\u6301\u3064\u4eba\u3005\u306f\u3001\u65e9\u671f\u8a3a\u65ad\u3001\u500b\u5225\u306b\u8abf\u6574\u3055\u308c\u305f\u4ecb\u5165\u3001\u591a\u8077\u7a2e\u306b\u3088\u308b\u9023\u643a\u30b1\u30a2\u306b\u3088\u308a\u3001\u767a\u9054\u3001\u5065\u5eb7\u3001\u751f\u6d3b\u306e\u8cea\u3092\u6700\u9069\u5316\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/greig-cephalopolysyndactyly-syndrome-gcps\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30b0\u30ec\u30a4\u30b0\u982d\u84cb\u591a\u6307\u75c7\u5019\u7fa4\uff08GCPS; Greig cephalopolysyndactyly syndrome\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u30b0\u30ea\u30fc\u30b0\u982d\u9854\u591a\u6307\u75c7\u5019\u7fa4\uff08GCPS\uff09\u306f\u3001\u5e83\u304f\u9593\u9694\u3092\u7a7a\u3051\u305f\u76ee\u3084\u7570\u5e38\u306b\u5927\u304d\u306a\u982d\u3001\u4f59\u5206\u306a\u6307\u306a\u3069\u306e\u75c7\u72b6\u3092\u7279\u5fb4\u3068\u3059\u308b\u7a00\u306a\u75be\u60a3\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001GCPS\u306e...<\/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:15px\" 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 class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30e6\u30a2\u30f3-\u30cf\u30ec\u30eb-\u30eb\u30d7\u30b9\u30ad\u75c7\u5019\u7fa4\uff08Yuan-Harel-Lupski Syndrome\uff09\u306f\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u5f71\u97ff\u3092\u53d7\u3051\u305f\u500b\u4eba\u306e\u5e73\u5747\u5bff\u547d\u306b\u95a2\u3059\u308b\u30c7\u30fc\u30bf\u306f\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u95a2\u9023\u3059\u308b\u75be\u60a3\u3067\u3042\u308b\u30dd\u30c8\u30c4\u30ad-\u30eb\u30d7\u30b9\u30ad\u75c7\u5019\u7fa4\uff08Potocki-Lupski Syndrome, PTLS\uff09\u3084\u30b7\u30e3\u30eb\u30b3\u30fc-\u30de\u30ea\u30fc-\u30c8\u30a5\u30fc\u30b9\u75c7\u5019\u7fa4\uff08Charcot-Marie-Tooth Syndrome, CMT\uff09\u304b\u3089\u5f97\u3089\u308c\u308b\u60c5\u5831\u304c\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75be\u60a3\u306f\u30e6\u30a2\u30f3-\u30cf\u30ec\u30eb-\u30eb\u30d7\u30b9\u30ad\u75c7\u5019\u7fa4\u3068\u5171\u901a\u3059\u308b\u75c7\u72b6\u3092\u6301\u3061\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u60c5\u5831\u304b\u3089\u3001\u30e6\u30a2\u30f3-\u30cf\u30ec\u30eb-\u30eb\u30d7\u30b9\u30ad\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u3088\u308a\u91cd\u7be4\u3067\u3001\u4e88\u5f8c\u304c\u3042\u307e\u308a\u826f\u304f\u306a\u3044\u5834\u5408\u3082\u3042\u308b\u3082\u306e\u306e\u3001\u65e9\u671f\u306e\u4ecb\u5165\u3084\u4e00\u8cab\u3057\u305f\u30b5\u30dd\u30fc\u30c8\u3001\u9069\u5207\u306a\u30b1\u30a2\u306b\u3088\u308a\u3001\u751f\u6d3b\u306e\u8cea\u304c\u5411\u4e0a\u3057\u3001\u6210\u4eba\u671f\u306b\u9054\u3059\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30dd\u30c8\u30c4\u30ad-\u30eb\u30d7\u30b9\u30ad\u75c7\u5019\u7fa4\u3067\u306f\u3001\u7d0440%\u306e\u4e73\u5150\u304c\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3092\u6301\u3063\u3066\u751f\u307e\u308c\u3001\u305d\u306e\u4e2d\u306b\u306f\u751f\u547d\u3092\u8105\u304b\u3059\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u305d\u308c\u3067\u3082\u3001PTLS\u306e\u81e8\u5e8a\u8a18\u9332\u3067\u306f\u300130\u4ee3\u5f8c\u534a\u307e\u3067\u751f\u5b58\u3057\u305f\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u540c\u69d8\u306b\u3001\u30b7\u30e3\u30eb\u30b3\u30fc-\u30de\u30ea\u30fc-\u30c8\u30a5\u30fc\u30b9\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u8a18\u9332\u3067\u306f\u300155\u6b73\u307e\u3067\u751f\u5b58\u3057\u305f\u7537\u6027\u306e\u4f8b\u304c\u8a18\u9332\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u4f8b\u306f\u3001\u9069\u6642\u306e\u533b\u7642\u4ecb\u5165\u3068\u5305\u62ec\u7684\u306a\u30b1\u30a2\u304c\u3053\u308c\u3089\u306e\u75be\u60a3\u3092\u7ba1\u7406\u3057\u3001\u5bff\u547d\u3092\u5ef6\u3070\u3059\u4e0a\u3067\u91cd\u8981\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002\u30e6\u30a2\u30f3-\u30cf\u30ec\u30eb-\u30eb\u30d7\u30b9\u30ad\u75c7\u5019\u7fa4\u306f\u3055\u3089\u306a\u308b\u8ab2\u984c\u3092\u62b1\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u8077\u7a2e\u306b\u3088\u308b\u30a2\u30d7\u30ed\u30fc\u30c1\u3068\u9069\u5207\u306a\u30b1\u30a2\u306b\u3088\u308a\u3001\u60a3\u8005\u306e\u4e88\u5f8c\u3092\u6539\u5584\u3057\u3001\u3088\u308a\u5065\u5eb7\u3067\u9577\u3044\u751f\u6d3b\u3092\u9001\u308b\u652f\u63f4\u304c\u53ef\u80fd\u3068\u306a\u308b\u3067\u3057\u3087\u3046\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\/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\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%82%E3%81%A3%E3%81%A8%E7%9F%A5%E3%82%8A%E3%81%9F%E3%81%84%E6%96%B9%E3%81%B8\"><\/span>\u3082\u3063\u3068\u77e5\u308a\u305f\u3044\u65b9\u3078<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3010\u5199\u771f\u3042\u308a\u30fb\u82f1\u8a9e\u3011\u30e6\u30cb\u30fc\u30af\uff08Unique\uff09\u306b\u3088\u308b17p\u91cd\u8907\u306b\u95a2\u3059\u308b\u60c5\u5831<a href=\"https:\/\/rarechromo.org\/media\/information\/Chromosome%2017\/17p%20Duplications%20FTNW.pdf\">\u30b7\u30fc\u30c8<\/a><\/p>\n\n\n\n<p>\u3010\u5199\u771f\u3042\u308a\u30fb\u82f1\u8a9e\u3011<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/yuan-harel-lupski-syndrome\/#description]\">\u30e6\u30a2\u30f3-\u30cf\u30ec\u30eb-\u30eb\u30d7\u30b9\u30ad\u75c7\u5019\u7fa4<\/a> &#8211; \u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928 MedlinePlus &#8211; \u7c73\u56fd\u653f\u5e9c\u516c\u5f0f\u30b5\u30a4\u30c8 &#8211; \u6700\u7d42\u66f4\u65b0 2018\u5e7410\u67081\u65e5<\/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=\"%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\/10.1016\/j.ajhg.2015.10.003\">Yuan, B., Harel, T., Gu, S., Liu, P., Burglen, L., Chantot-Bastaraud, S., Gelowani, V., Beck, C. R., Carvalho, C. M., Cheung, S. W., Coe, A., Malan, V., Munnich, A., Magoulas, P. L., Potocki, L., &amp; Lupski, J. R. (2015). Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. <em>American journal of human genetics<\/em>, <em>97<\/em>(5), 691\u2013707. https:\/\/doi.org\/10.1016\/j.ajhg.2015.10.003<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/ajmg.a.32195\">Doco-Fenzy, M., Holder-Espinasse, M., Bieth, E., Magdelaine, C., Vincent, M. C., Khoury, M., Andrieux, J., Zhang, F., Lupski, J. R., Klink, R., Schneider, A., Goze-Martineau, O., Cuisset, J. M., Vallee, L., Manouvrier-Hanu, S., Gaillard, D., &amp; de Martinville, B. (2008). The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients. <em>American journal of medical genetics. Part A<\/em>, <em>146A<\/em>(7), 917\u2013924. https:\/\/doi.org\/10.1002\/ajmg.a.32195<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/ajmg.a.20355\">Shaw, C. J., Stankiewicz, P., Christodoulou, J., Smith, E., Jones, K., &amp; Lupski, J. R. (2004). A girl with duplication 17p10-p12 associated with a dicentric chromosome. <em>American journal of medical genetics. Part A<\/em>, <em>124A<\/em>(2), 173\u2013178. https:\/\/doi.org\/10.1002\/ajmg.a.20355<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/ajmg.a.61741\">Franciskovich, R., Soler-Alfonso, C., Neira-Fresneda, J., Lupski, J. R., McCann-Crosby, B., &amp; Potocki, L. (2020). Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS. <em>American journal of medical genetics. Part A<\/em>, <em>182<\/em>(9), 2077\u20132084. https:\/\/doi.org\/10.1002\/ajmg.a.61741<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/yuan-harel-lupski-syndrome\/\"><em>Yuan-harel-lupski syndrome: Medlineplus genetics<\/em>. (Last updated 2018 October). Retrieved January 6, 2025, from https:\/\/medlineplus.gov\/genetics\/condition\/yuan-harel-lupski-syndrome\/<\/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\u3081\u30e6\u30a2\u30f3-\u30cf\u30ec\u30eb-\u30eb\u30d7\u30b9\u30ad&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/yuan-harel-lupski-syndrome-yuhal-17p12\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":79915,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[58],"tags":[33,74,43,49],"class_list":["post-83599","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genetic-disorder","tag-symptom","tag-duplication-syndrome","tag-gene","tag-genetic-disease"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83599","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=83599"}],"version-history":[{"count":12,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83599\/revisions"}],"predecessor-version":[{"id":112168,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83599\/revisions\/112168"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/79915"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=83599"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=83599"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=83599"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}