{"id":83596,"date":"2024-11-15T15:56:31","date_gmt":"2024-11-15T06:56:31","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83596"},"modified":"2025-08-25T09:38:17","modified_gmt":"2025-08-25T00:38:17","slug":"smith-magenis-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-magenis-syndrome\/","title":{"rendered":"Smith-Magenis \u75c7\u5019\u7fa4"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-magenis-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-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-magenis-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-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-magenis-syndrome\/#%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-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-magenis-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=\"%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\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/2a73920f84b1329dc45a84f1aa9dc235-1024x20.png\" alt=\"17p11.2\" class=\"wp-image-89882\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/effa1767f693956a8f0ee0d05d9cf27c-1024x20.png\" alt=\"17p11.2 Smith-Magenis \u3000\" class=\"wp-image-89885\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" 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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=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/23502599_s-1.jpg\" alt=\"\u306c\u3044\u3050\u308b\u307f\" class=\"wp-image-88641\"\/><\/figure><\/div>\n\n\n<div style=\"height:23px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>SMS\u306e\u7279\u5fb4\u7684\u306a\u8eab\u4f53\u7684\u7279\u5fb4\u306f\u3001\u5e74\u9f62\u3092\u91cd\u306d\u308b\u306b\u3064\u308c\u3066\u3088\u308a\u9855\u8457\u306b\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u306f\u3001\u5e74\u9f62\u3068\u3068\u3082\u306b\u9032\u884c\u3059\u308b\u7c97\u3044\u9854\u306e\u7279\u5fb4\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u4ed6\u306e\u8eab\u4f53\u7684\u7570\u5e38\u306b\u306f\u3001\u6b6f\u306e\u554f\u984c\u3001\u5c0f\u3055\u306a\u9aa8\u306e\u7570\u5e38\u3001\u76ee\u3001\u8033\u3001\u5589\u306e\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u58f0\u304c\u304b\u3059\u308c\u3066\u3044\u308b\u3053\u3068\u3084\u3001\u65e9\u671f\u306e\u8868\u73fe\u8a00\u8a9e\u306e\u9045\u308c\uff08\u8074\u529b\u306b\u554f\u984c\u304c\u3042\u308b\u5834\u5408\u3082\u3042\u308b\uff09\u3082\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u3055\u3089\u306b\u3001SMS\u306e\u60a3\u8005\u306f\u3057\u3070\u3057\u3070\u77ed\u3044\u8eab\u9577\u3084\u3001\u4e73\u5150\u671f\u306b\u6210\u9577\u4e0d\u826f\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30b9\u30df\u30b9\u30fb\u30de\u30b8\u30a7\u30cb\u30b9\u75c7\u5019\u7fa4\u306e\u767a\u75c7\u7387\u306f\u3001\u51fa\u751f1\u4e07\u4eba\u3042\u305f\u308a25\u4eba\u7a0b\u5ea6\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u6700\u8fd1\u306e\u8a3a\u65ad\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u5b9f\u969b\u306e\u6709\u75c5\u7387\u306f1\u4e07\u4eba\u3042\u305f\u308a15\u4eba\u306b\u8fd1\u3044\u53ef\u80fd\u6027\u304c\u3042\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6b63\u78ba\u306a\u6709\u75c5\u7387\u306f\u5b8c\u5168\u306b\u306f\u5206\u304b\u3063\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u904e\u53bb\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u306a\u304b\u3063\u305f\u30b1\u30fc\u30b9\u3082\u3042\u308b\u305f\u3081\u3001\u5b9f\u969b\u306e\u767a\u75c7\u7387\u306f\u73fe\u5728\u306e\u63a8\u5b9a\u5024\u3088\u308a\u3082\u9ad8\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>SMS\u306f\u3001\u4e3b\u306b17\u756a\u67d3\u8272\u4f53\u306ep11.2\u9818\u57df\u306b\u3042\u308b\u30a4\u30f3\u30bf\u30fc\u30b9\u30c6\u30a3\u30b7\u30e3\u30eb\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u3001\u3053\u308c\u306b\u3088\u308aRAI1\u907a\u4f1d\u5b50\u304c\u4e0d\u5341\u5206\u306b\u767a\u73fe\u3057\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002\u6b20\u5931\u304c\u306a\u3044\u5834\u5408\u3067\u3082\u3001RAI1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u3001\u540c\u3058\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8a3a\u65ad\u306f\u3001\u8eab\u4f53\u7684\u3001\u767a\u9054\u7684\u3001\u884c\u52d5\u7684\u306a\u7279\u5fb4\u306e\u72ec\u7279\u306a\u30d1\u30bf\u30fc\u30f3\u3092\u8a8d\u8b58\u3059\u308b\u3053\u3068\u3067\u884c\u308f\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u7279\u5fb4\u306e\u591a\u304f\u306f\u5e7c\u5c11\u671f\u306b\u306f\u76ee\u7acb\u305f\u305a\u3001\u5e74\u9f62\u3068\u3068\u3082\u306b\u3088\u308a\u660e\u78ba\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u77e5\u7684\u6a5f\u80fd\u306e\u7a0b\u5ea6\u306f\u500b\u4eba\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u591a\u304f\u306e\u4eba\u3005\u306f\u8efd\u5ea6\u304b\u3089\u4e2d\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002SMS\u306f\u591a\u7cfb\u7d71\u306b\u308f\u305f\u308b\u75be\u60a3\u3067\u3042\u308a\u3001\u7279\u306b\u795e\u7d4c\u884c\u52d5\u5b66\u7684\u306a\u7279\u5fb4\u304c\u9855\u8457\u3067\u3059\u3002\u60a3\u8005\u306e\u611f\u60c5\u7684\u304a\u3088\u3073\u793e\u4f1a\u7684\u767a\u9054\u306f\u3001\u77e5\u7684\u6210\u719f\u306b\u6bd4\u3079\u3066\u9045\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u6cbb\u7642\u3068\u7ba1\u7406\u306b\u306f\u3001\u8eab\u4f53\u7684\u3001\u767a\u9054\u7684\u3001\u884c\u52d5\u7684\u306a\u3055\u307e\u3056\u307e\u306a\u8ab2\u984c\u306b\u5bfe\u5fdc\u3059\u308b\u305f\u3081\u306e\u591a\u9762\u7684\u306a\u30a2\u30d7\u30ed\u30fc\u30c1\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\/fragile-x-syndrome-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30d5\u30e9\u30b8\u30e3\u30a4\u30ebX\u75c7\u5019\u7fa4\u3068\u306f\uff1f\u539f\u56e0\u30fb\u75c7\u72b6\u30fb\u8a3a\u65ad\u30fb\u652f\u63f4\u4f53\u5236\u307e\u3067\u5fb9\u5e95\u89e3\u8aac <\/div>\n          <div class=\"blog-card-excerpt\">\u30d5\u30e9\u30b8\u30e3\u30a4\u30ebX\u75c7\u5019\u7fa4\uff08FXS\uff09\u306e\u539f\u56e0\u30fb\u7279\u5fb4\u30fb\u8a3a\u65ad\u65b9\u6cd5\u3092\u5c02\u9580\u7684\u306b\u89e3\u8aac\u3002\u767a\u9054\u652f\u63f4\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u91cd\u8981\u6027\u3082\u7d39\u4ecb\u3057\u307e\u3059\u3002...<\/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>\u30b9\u30df\u30b9\u30fb\u30de\u30b8\u30a7\u30cb\u30b9\u75c7\u5019\u7fa4\uff08SMS\uff09\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e17p11.2\u9818\u57df\u306b\u6b20\u5931\u304c\u3042\u308b\u304b\u3001\u307e\u305f\u306f\u305d\u306e\u9818\u57df\u306b\u3042\u308b\u30ec\u30c1\u30ce\u30a4\u30f3\u9178\u8a98\u5c0e\u907a\u4f1d\u5b501\uff08RAI1\uff09\u306b\u75c5\u7684\u306a\u5909\u7570\u304c\u3042\u308b\u3053\u3068\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u8907\u96d1\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002SMS\u306e\u7d0490%\u306f\u3053\u306e\u67d3\u8272\u4f53\u9818\u57df\u306e\u6b20\u5931\u304c\u539f\u56e0\u3067\u3001\u6700\u3082\u4e00\u822c\u7684\u306a\u306e\u306fRAI1\u907a\u4f1d\u5b50\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b3.7Mb\u306e\u6b20\u5931\u3067\u3059\u3002\u3053\u306e\u6b20\u5931\u306b\u3088\u308a\u3001RAI1\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u5341\u5206\u306b\u4f5c\u3089\u308c\u306a\u304f\u306a\u308a\u3001\u795e\u7d4c\u767a\u9054\u3084\u884c\u52d5\u6a5f\u80fd\u3001\u4f53\u5185\u6642\u8a08\uff08\u663c\u591c\u306e\u30ea\u30ba\u30e0\uff09\u306a\u3069\u306b\u5fc5\u8981\u306a\u50cd\u304d\u304c\u4e0d\u8db3\u3057\u307e\u3059\u3002\u7d0410%\u306e\u75c7\u4f8b\u3067\u306f\u300117p11.2\u9818\u57df\u306e\u6b20\u5931\u306f\u898b\u3089\u308c\u307e\u305b\u3093\u304c\u3001RAI1\u907a\u4f1d\u5b50\u306b\u76f4\u63a5\u7684\u306a\u75c5\u7684\u5909\u7570\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>RAI1\u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u5185\u3067\u306e\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u8abf\u6574\u3059\u308b\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u304a\u308a\u3001\u305d\u306e\u4e0d\u8db3\u304cSMS\u306e\u4e3b\u306a\u7279\u5fb4\u3067\u3042\u308b\u767a\u9054\u9045\u5ef6\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u7279\u6709\u306e\u884c\u52d5\u7684\u7279\u5fb4\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u884c\u52d5\u9762\u3067\u306f\u3001\u7279\u306b\u9855\u8457\u306a\u7761\u7720\u969c\u5bb3\u3001\u6c7a\u307e\u3063\u305f\u884c\u52d5\u30d1\u30bf\u30fc\u30f3\uff08\u30b9\u30c6\u30ec\u30aa\u30bf\u30a4\u30d7\u884c\u52d5\uff09\u3001\u81ea\u5df1\u50b7\u5bb3\u3001\u4e0d\u9069\u5fdc\u884c\u52d5\u306a\u3069\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u5b50\u3069\u3082\u304c\u6210\u9577\u3059\u308b\u306b\u3064\u308c\u3066\u3088\u308a\u76ee\u7acb\u3064\u3088\u3046\u306b\u306a\u308a\u3001\u591a\u304f\u306e\u75c7\u72b6\u306f18\u30f6\u6708\u9803\u306b\u660e\u78ba\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\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=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"923\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chromo17-MeDSMTDPXcORMCUHWAAAAOHT.png\" alt=\"chromo17\" class=\"wp-image-89894\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>SMS\u306e\u8a3a\u65ad\u306f\u3001\u8eab\u4f53\u7684\u3001\u767a\u9054\u7684\u3001\u884c\u52d5\u7684\u306a\u7279\u5fb4\u3092\u3082\u3068\u306b\u884c\u308f\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u7279\u5fb4\u306f\u5e7c\u5c11\u671f\u306b\u306f\u5fae\u5999\u306b\u73fe\u308c\u3001\u5e74\u9f62\u3092\u91cd\u306d\u308b\u3054\u3068\u306b\u9855\u8457\u306b\u306a\u308a\u307e\u3059\u3002SMS\u306e\u60a3\u8005\u306f\u3001\u7c97\u3044\u9854\u3064\u304d\u306a\u3069\u306e\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3092\u6301\u3061\u3001\u5e74\u9f62\u3068\u3068\u3082\u306b\u305d\u306e\u7279\u5fb4\u304c\u3088\u308a\u660e\u78ba\u306b\u306a\u308a\u307e\u3059\u3002\u52a0\u3048\u3066\u3001\u6b6f\u306e\u554f\u984c\u3001\u8efd\u3044\u9aa8\u306e\u7570\u5e38\u3001\u76ee\u3084\u8033\u3001\u5589\u306b\u95a2\u3059\u308b\u554f\u984c\uff08\u4f8b\u3048\u3070\u304b\u3059\u308c\u305f\u58f0\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8a00\u8a9e\u306e\u767a\u9054\u9045\u5ef6\u3084\u8868\u73fe\u529b\u306e\u9045\u308c\u3082\u4e00\u822c\u7684\u3067\u3001\u8074\u529b\u306b\u554f\u984c\u304c\u3042\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8eab\u9577\u3084\u4f53\u91cd\u306f\u3001\u907a\u4f1d\u7684\u306a\u7570\u5e38\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u300217p11.2\u9818\u57df\u306e\u6b20\u5931\u304c\u3042\u308b\u60a3\u8005\u306f\u3001RAI1\u5909\u7570\u306e\u60a3\u8005\u3088\u308a\u3082\u77ed\u8eab\u306e\u5272\u5408\u304c\u9ad8\u304f\u300117p11.2\u306e\u6b20\u5931\u304c\u3042\u308b81%\u306e\u60a3\u8005\u306f\u77ed\u8eab\u3067\u3042\u308b\u306e\u306b\u5bfe\u3057\u3001RAI1\u5909\u7570\u304c\u3042\u308b\u60a3\u8005\u3067\u306f\u305d\u306e\u5272\u5408\u306f10%\u7a0b\u5ea6\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=\"1450\" height=\"768\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/7c3c3a73418c05c719cd28067e2908b4.png\" alt=\"Smith-Magenis Syndrome\u2014Clinical Review, Biological Background and Related Disorders\u3000\u3000\" class=\"wp-image-89897\"\/><\/figure><\/div>\n\n\n<p class=\"has-text-align-center\"><sup>Rinaldi, B., Villa, R., Sironi, A., Garavelli, L., Finelli, P., &amp; Bedeschi, M. F. (2022). Smith-Magenis Syndrome\u2014Clinical Review, Biological Background and Related Disorders. <em>Genes<\/em>, <em>13<\/em>(2), 335. https:\/\/doi.org\/10.3390\/genes13020335<\/sup><\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>SMS\u306f\u901a\u5e38\u3001\u89aa\u304b\u3089\u907a\u4f1d\u3059\u308b\u3053\u3068\u306a\u304f\u65b0\u305f\u306b\u767a\u751f\u3057\u305f\u907a\u4f1d\u5b50\u5909\u7570\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u304c\u3001\u307e\u308c\u306b\u5bb6\u65cf\u5185\u3067\u907a\u4f1d\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002SMS\u306e\u6700\u3082\u4e00\u822c\u7684\u306a\u907a\u4f1d\u7684\u539f\u56e0\u306f17p11.2\u9818\u57df\u306e\u6b20\u5931\u3067\u30011.5Mb\u304b\u30899Mb\u306e\u5927\u304d\u3055\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u6b20\u5931\u306f\u3001\u975e\u5bfe\u7acb\u7684\u76f8\u540c\u7d44\u63db\u3048\uff08NAHR\uff09\u3068\u547c\u3070\u308c\u308b\u30e1\u30ab\u30cb\u30ba\u30e0\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u3001\u7e70\u308a\u8fd4\u3057\u914d\u5217\u304c\u591a\u304f\u542b\u307e\u308c\u3066\u3044\u308b\u3053\u306e\u9818\u57df\u3067\u306f\u6b20\u5931\u306e\u5927\u304d\u3055\u306b\u3070\u3089\u3064\u304d\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>17p11.2\u9818\u57df\u306b\u306f\u7d0480\u500b\u306e\u907a\u4f1d\u5b50\u304c\u5b58\u5728\u3057\u307e\u3059\u304c\u3001RAI1\u304cSMS\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u3057\u3066\u7279\u5b9a\u3055\u308c\u3066\u4ee5\u6765\u3001\u5178\u578b\u7684\u306a17p11.2\u306e\u6b20\u5931\u304c\u898b\u3089\u308c\u306a\u3044\u75c7\u4f8b\u3067\u3082RAI1\u306e\u75c5\u7684\u5909\u7570\u304c\u539f\u56e0\u3067SMS\u304c\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u306a\u308a\u3001\u3053\u308c\u307e\u3067\u3088\u308a\u591a\u304f\u306e\u75c7\u4f8b\u304c\u767a\u898b\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>SMS\u306f\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u3068\u8003\u3048\u3089\u308c\u3001\u901a\u5e38\u306f\u65b0\u305f\u306b\u767a\u751f\u3057\u305f\u907a\u4f1d\u5b50\u5909\u7570\u304c\u539f\u56e0\u3067\u3059\u304c\u3001\u307e\u308c\u306b\u5f71\u97ff\u3092\u53d7\u3051\u305f\u89aa\u304b\u3089\u907a\u4f1d\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u3084ADHD\u306b\u95a2\u9023\u3059\u308b\u75c7\u72b6\u3092\u7ba1\u7406\u3059\u308b\u3053\u3068\u3092\u76ee\u7684\u3068\u3057\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=\"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>\u904e\u6d3b\u52d5\u3084\u305d\u308c\u306b\u95a2\u9023\u3059\u308b\u884c\u52d5\u306b\u306f\u3001\u30e1\u30c1\u30eb\u30d5\u30a7\u30cb\u30c7\u30fc\u30c8\uff08MPH\uff09\u306a\u3069\u306e\u523a\u6fc0\u85ac\u304c\u3088\u304f\u4f7f\u7528\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u52b9\u679c\u7684\u3067\u8010\u5bb9\u6027\u3082\u9ad8\u3044\u305f\u3081\u3001\u7b2c\u4e00\u9078\u629e\u85ac\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u30af\u30ed\u30f3\u30b8\u30f3\u3068\u3044\u3046\u85ac\u3082\u3001\u523a\u6fc0\u85ac\u3068\u4f75\u7528\u307e\u305f\u306f\u4ee3\u66ff\u3068\u3057\u3066\u4f7f\u7528\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u3053\u308c\u306b\u3088\u308a\u7761\u7720\u304c\u6539\u5584\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u6297\u7cbe\u795e\u75c5\u85ac\u306e\u4e00\u3064\u3067\u3042\u308b\u30ea\u30b9\u30da\u30ea\u30c9\u30f3\u306f\u3001\u904e\u6d3b\u52d5\u3001\u653b\u6483\u6027\u3001\u81ea\u5df1\u50b7\u5bb3\u306a\u3069\u306e\u884c\u52d5\u306b\u5bfe\u51e6\u3059\u308b\u305f\u3081\u306b\u3088\u304f\u51e6\u65b9\u3055\u308c\u307e\u3059\u304c\u3001\u4f53\u91cd\u5897\u52a0\u3084\u98df\u6b32\u5897\u9032\u3001\u75b2\u52b4\u306a\u3069\u306e\u526f\u4f5c\u7528\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7761\u7720\u969c\u5bb3\u3082SMS\u306e\u91cd\u8981\u306a\u8ab2\u984c\u3067\u3059\u3002\u898f\u5247\u6b63\u3057\u3044\u751f\u6d3b\u30ea\u30ba\u30e0\u3092\u4fdd\u3061\u3001\u30ea\u30e9\u30c3\u30af\u30b9\u3067\u304d\u308b\u5bdd\u5ba4\u3092\u4f5c\u308a\u3001\u30ab\u30d5\u30a7\u30a4\u30f3\u306a\u3069\u306e\u523a\u6fc0\u7269\u3092\u907f\u3051\u308b\u3068\u3044\u3063\u305f\u7761\u7720\u885b\u751f\u306e\u6539\u5584\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u304c\u3001\u7761\u7720\u969c\u5bb3\u306e\u7ba1\u7406\u306b\u306f\u85ac\u7269\u7642\u6cd5\u304c\u3057\u3070\u3057\u3070\u5fc5\u8981\u3067\u3059\u3002\u30e1\u30e9\u30c8\u30cb\u30f3\u306f\u3001SMS\u306b\u898b\u3089\u308c\u308b\u4f53\u5185\u6642\u8a08\u306e\u4e71\u308c\u3092\u6539\u5584\u3059\u308b\u305f\u3081\u306b\u3088\u304f\u4f7f\u7528\u3055\u308c\u307e\u3059\u3002\u77ed\u671f\u9593\u306e\u30e1\u30e9\u30c8\u30cb\u30f3\u88dc\u5145\u306b\u3088\u308a\u3001\u5165\u7720\u307e\u3067\u306e\u6642\u9593\u304c\u77ed\u7e2e\u3055\u308c\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u5168\u4f53\u7684\u306a\u7761\u7720\u6642\u9593\u3084\u884c\u52d5\u3078\u306e\u5f71\u97ff\u306f\u3042\u307e\u308a\u898b\u3089\u308c\u307e\u305b\u3093\u3002\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u3001\u30e1\u30e9\u30c8\u30cb\u30f3\u3068\u30a2\u30bb\u30d6\u30c8\u30ed\u30fc\u30eb\u306a\u3069\u306e\u85ac\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001\u7761\u7720\u3068\u884c\u52d5\u306e\u6539\u5584\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30bf\u30b7\u30e1\u30eb\u30c6\u30aa\u30f3\u3068\u3044\u3046\u30e1\u30e9\u30c8\u30cb\u30f3\u53d7\u5bb9\u4f53\u30a2\u30b4\u30cb\u30b9\u30c8\u306f\u3001SMS\u306b\u304a\u3051\u308b\u7761\u7720\u969c\u5bb3\u306e\u6cbb\u7642\u306e\u305f\u3081\u306b\u30a2\u30e1\u30ea\u30ab\u3067\u627f\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u4ed6\u3001\u6297\u30d2\u30b9\u30bf\u30df\u30f3\u85ac\u3084\u6297\u3046\u3064\u85ac\u3001\u6297\u3051\u3044\u308c\u3093\u85ac\u3082\u3001\u7761\u7720\u554f\u984c\u3084\u3051\u3044\u308c\u3093\u3092\u4f34\u3046\u75c7\u72b6\u306e\u6cbb\u7642\u306b\u5f79\u7acb\u3064\u5834\u5408\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\/23887375_s.jpg\" alt=\"\u3044\u3064\u306e\u65e5\u304b\u3001\u8a71\u305b\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3088\u3046\u306b\u3002\" class=\"wp-image-87397\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>SMS\u306f\u3001\u4e2d\u7a0b\u5ea6\u304b\u3089\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u8a00\u8a9e\u9045\u5ef6\u3001\u3055\u307e\u3056\u307e\u306a\u884c\u52d5\u7684\u306a\u8ab2\u984c\u3092\u7279\u5fb4\u3068\u3057\u3066\u3044\u307e\u3059\u3002\u653b\u6483\u7684\u306a\u884c\u52d5\u306fSMS\u306e\u60a3\u8005\u306b\u4e00\u822c\u7684\u3067\u300138%\u304b\u308993%\u306e\u60a3\u8005\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u81ea\u5df1\u50b7\u5bb3\u884c\u52d5\uff08\u81ea\u5206\u3092\u53e9\u304f\u3001\u304b\u3080\u3001\u76ae\u819a\u3092\u5f15\u3063\u63bb\u304f\u306a\u3069\uff09\u306f\u300170%\u304b\u308997%\u306e\u60a3\u8005\u306b\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u884c\u52d5\u306f\u4ed6\u306e\u767a\u9054\u969c\u5bb3\u3067\u898b\u3089\u308c\u308b\u3082\u306e\u306b\u4f3c\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u76ee\u3092\u7a81\u3044\u305f\u308a\u3001\u58c1\u3092\u6253\u3061\u7834\u3063\u305f\u308a\u3001\u722a\u3092\u5f15\u3063\u3053\u629c\u3044\u305f\u308a\u3068\u3044\u3063\u305f\u73cd\u3057\u3044\u884c\u52d5\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u884c\u52d5\u306f\u6210\u4eba\u306e\u6ce8\u610f\u3092\u5f15\u304f\u305f\u3081\u306b\u8d77\u3053\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u305d\u306e\u539f\u56e0\u306b\u3064\u3044\u3066\u306f\u307e\u3060\u8abf\u67fb\u304c\u9032\u3093\u3067\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>SMS\u306e\u5b50\u3069\u3082\u304c\u6210\u9577\u3059\u308b\u306b\u3064\u308c\u3066\u3001\u884c\u52d5\u306e\u7279\u5fb4\u306f\u3088\u308a\u9855\u8457\u306b\u306a\u308a\u3001\u793e\u4f1a\u7684\u306a\u4ea4\u6d41\u306e\u96e3\u3057\u3055\u3001\u885d\u52d5\u6027\u3001\u975e\u9069\u5fdc\u7684\u884c\u52d5\u3092\u901a\u3058\u3066\u6ce8\u610f\u3092\u5f15\u3053\u3046\u3068\u3059\u308b\u50be\u5411\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u7761\u7720\u969c\u5bb3\u306f\u3001\u3053\u308c\u3089\u306e\u884c\u52d5\u306e\u4e88\u6e2c\u56e0\u5b50\u3068\u3057\u3066\u5f37\u3044\u95a2\u9023\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>SMS\u306b\u306f\u3001\u767a\u80b2\u306e\u9045\u308c\u3092\u542b\u3080\u8eab\u4f53\u7684\u306a\u554f\u984c\u3082\u591a\u304f\u3042\u308a\u307e\u3059\u3002\u77ed\u8eab\u3084\u4e73\u5150\u671f\u306e\u6388\u4e73\u56f0\u96e3\u306a\u3069\u306e\u6210\u9577\u969c\u5bb3\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u80a5\u6e80\u306f\u3001\u901a\u5e38\u3001\u5b50\u3069\u3082\u306e\u9803\u304b\u3089\u59cb\u307e\u308a\u3001\u6210\u4eba\u671f\u306b\u306f\u5065\u5eb7\u30ea\u30b9\u30af\u3092\u9ad8\u3081\u308b\u539f\u56e0\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u80c3\u98df\u9053\u9006\u6d41\u75c7\u3084\u4fbf\u79d8\u306a\u3069\u306e\u6d88\u5316\u5668\u7cfb\u306e\u554f\u984c\u3082\u983b\u7e41\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u6b6f\u306e\u7570\u5e38\u3084\u53e3\u306e\u6a5f\u80fd\u306b\u95a2\u3059\u308b\u554f\u984c\u3001\u5074\u5f2f\u75c7\u3084\u7570\u5e38\u306a\u6b69\u884c\u306a\u3069\u3001\u904b\u52d5\u5668\u7cfb\u306e\u554f\u984c\u3082\u898b\u3089\u308c\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\/2024\/11\/25538323_s.jpg\" alt=\"\u30e9\u30c3\u30d1\u30fc\" class=\"wp-image-89905\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u611f\u899a\u306e\u7d71\u5408\u306b\u554f\u984c\u3092\u62b1\u3048\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u97f3\u306b\u654f\u611f\u3067\u3042\u3063\u305f\u308a\u3001\u611f\u899a\u60c5\u5831\u3092\u3046\u307e\u304f\u7d71\u5408\u3067\u304d\u306a\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8074\u529b\u306e\u554f\u984c\u3001\u7279\u306b\u4f1d\u97f3\u6027\u96e3\u8074\u3084\u8074\u529b\u306e\u5909\u52d5\u304c\u3088\u304f\u898b\u3089\u308c\u3001\u983b\u7e41\u306b\u8033\u306e\u611f\u67d3\u75c7\u306e\u6cbb\u7642\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002\u76ee\u306e\u554f\u984c\u3001\u4f8b\u3048\u3070\u659c\u8996\u3084\u8fd1\u8996\u3082\u3088\u304f\u898b\u3089\u308c\u3001\u5e74\u9f62\u3068\u3068\u3082\u306b\u7db2\u819c\u5265\u96e2\u3092\u7d4c\u9a13\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u5fc3\u8840\u7ba1\u7cfb\u3084\u814e\u81d3\u306b\u95a2\u3059\u308b\u554f\u984c\u304cSMS\u60a3\u8005\u306b\u767a\u751f\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u5fc5\u305a\u3057\u3082\u5168\u54e1\u306b\u73fe\u308c\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u5fc3\u81d3\u306e\u6b20\u9665\uff08\u5f01\u306e\u554f\u984c\u3084\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069\uff09\u3084\u814e\u81d3\u306e\u5947\u5f62\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5185\u5206\u6ccc\u7cfb\u306e\u554f\u984c\uff08\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u306a\u3069\uff09\u3082\u4e00\u822c\u7684\u3067\u3001\u601d\u6625\u671f\u306e\u9045\u308c\u3084\u65e9\u671f\u306e\u6027\u6210\u719f\u3082\u89b3\u5bdf\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=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/28020321_s.jpg\" alt=\"\u5fc3\u81d3\" class=\"wp-image-88825\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>SMS\u306e\u6cbb\u7642\u306b\u306f\u3001\u533b\u7642\u9762\u3060\u3051\u3067\u306a\u304f\u3001\u767a\u9054\u652f\u63f4\u3082\u91cd\u8981\u3067\u3059\u3002\u65e9\u671f\u306e\u4ecb\u5165\u30d7\u30ed\u30b0\u30e9\u30e0\u3001\u7279\u5225\u652f\u63f4\u6559\u80b2\u3001\u8a00\u8a9e\u7642\u6cd5\u306a\u3069\u304c\u52b9\u679c\u7684\u3067\u3059\u3002\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u793e\u4f1a\u7684\u30b5\u30dd\u30fc\u30c8\u3082\u91cd\u8981\u3067\u3001\u4ecb\u8b77\u306e\u8ca0\u62c5\u3092\u8efd\u6e1b\u3059\u308b\u305f\u3081\u306e\u652f\u63f4\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>SMS\u306b\u306f\u7d99\u7d9a\u7684\u306a\u76e3\u8996\u3068\u652f\u63f4\u304c\u5fc5\u8981\u3067\u3059\u3002\u767a\u80b2\u3001\u7761\u7720\u3001\u884c\u52d5\u306e\u8ab2\u984c\u3092\u8ffd\u8de1\u3057\u3001\u5fc5\u8981\u306a\u533b\u7642\u3084\u6559\u80b2\u652f\u63f4\u3092\u63d0\u4f9b\u3059\u308b\u305f\u3081\u306b\u5b9a\u671f\u7684\u306a\u8a55\u4fa1\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u5b9a\u671f\u7684\u306a\u8074\u529b\u3001\u8996\u529b\u3001\u5065\u5eb7\u30c1\u30a7\u30c3\u30af\u3082\u5fc5\u8981\u3067\u3059\u3002\u65b0\u305f\u306a\u5408\u4f75\u75c7\u304c\u767a\u751f\u3057\u3066\u3044\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u3001\u6210\u9577\u3084\u6804\u990a\u72b6\u614b\u3082\u76e3\u8996\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9069\u5207\u306a\u6cbb\u7642\u3068\u500b\u5225\u5bfe\u5fdc\u306b\u3088\u308a\u3001\u591a\u304f\u306eSMS\u60a3\u8005\u306f\u5145\u5b9f\u3057\u305f\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\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\/digeorge-syndrome-velocardiofacial-syndrome-complex-2-dsg2\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u3068\u306f\uff1fNIPT\u3067\u691c\u67fb\u53ef\u80fd\uff1f\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u306f22q11.2\u308410p\u67d3\u8272\u4f53\u7570\u5e38\u306b\u95a2\u9023\u3059\u308b\u7a00\u5c11\u75be\u60a3\u3067\u3001\u5fc3\u75be\u60a3\u3001\u514d\u75ab\u4e0d\u5168\u3001\u767a\u9054\u9045\u5ef6\u306a\u3069\u304c\u7279\u5fb4\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306fDGS1\u3068DG...<\/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=\"%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>\u30b9\u30df\u30b9\u30fb\u30de\u30b8\u30a7\u30cb\u30b9\u75c7\u5019\u7fa4\uff08SMS\uff09\u306f\u8907\u96d1\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308a\u3001\u751f\u547d\u4e88\u5f8c\u306b\u95a2\u3059\u308b\u30c7\u30fc\u30bf\u306f\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u91cd\u5927\u306a\u81d3\u5668\u969c\u5bb3\u304c\u306a\u3044\u5834\u5408\u3001SMS\u306e\u3042\u308b\u4eba\u3005\u306f\u4e00\u822c\u7684\u306b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u3042\u308b\u4eba\u3005\u3068\u540c\u3058\u3088\u3046\u306a\u5bff\u547d\u3092\u6301\u3064\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u6700\u3082\u9ad8\u9f62\u306eSMS\u60a3\u8005\u306f88\u6b73\u307e\u3067\u751f\u304d\u305f\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u5f7c\u5973\u306e\u6700\u5f8c\u306e\u6570\u30f6\u6708\u306f\u3001\u7761\u7720\u306e\u554f\u984c\u3084\u6162\u6027\u7684\u306a\u526f\u9f3b\u8154\u708e\u306b\u60a9\u307e\u3055\u308c\u306a\u304c\u3089\u3082\u3001\u4f9d\u7136\u3068\u3057\u3066\u5143\u6c17\u3067\u5e78\u305b\u305d\u3046\u3060\u3063\u305f\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6b7b\u306e\u6570\u65e5\u524d\u306b\u8133\u5352\u4e2d\u3092\u767a\u75c7\u3057\u307e\u3057\u305f\u304c\u3001\u8a73\u7d30\u3092\u8abf\u3079\u308b\u305f\u3081\u306e\u89e3\u5256\u306f\u884c\u308f\u308c\u307e\u305b\u3093\u3067\u3057\u305f\u3002\u3053\u306e\u4e8b\u4f8b\u306f\u3001\u9069\u5207\u306a\u30b1\u30a2\u304c\u3042\u308c\u3070SMS\u306e\u3042\u308b\u4eba\u3005\u3082\u9577\u751f\u304d\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3053\u3068\u3092\u793a\u5506\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u9577\u671f\u7684\u306a\u5f71\u97ff\u306b\u306f\u4e0d\u78ba\u5b9a\u306a\u70b9\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=\"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<p>SMS\u306e\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u3084\u7bc4\u56f2\u306f\u500b\u4eba\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u591a\u8077\u7a2e\u306b\u3088\u308b\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u5185\u5206\u6ccc\u5b66\u3001\u907a\u4f1d\u5b66\u3001\u795e\u7d4c\u5b66\u306a\u3069\u306e\u5c02\u9580\u5bb6\u304c\u5354\u529b\u3057\u3066\u3001\u500b\u3005\u306e\u30cb\u30fc\u30ba\u306b\u5bfe\u5fdc\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002\u65e9\u671f\u8a3a\u65ad\u306f\u3001\u9069\u5207\u306a\u7ba1\u7406\u3068\u4ecb\u5165\u3092\u78ba\u5b9f\u306b\u884c\u3046\u305f\u3081\u306b\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002\u907a\u4f1d\u5b50\u691c\u67fb\u3001\u7279\u306b\u67d3\u8272\u4f53\u30de\u30eb\u30c1\u30a2\u30ec\u30a4\u691c\u67fb\u306f\u3001\u81e8\u5e8a\u6cbb\u7642\u3068\u7814\u7a76\u306e\u4e21\u65b9\u306b\u304a\u3044\u3066\u6709\u7528\u3067\u3059\u3002DNA\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u975e\u4fb5\u8972\u7684\u306a<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\u304cSMS\u3092\u51fa\u751f\u524d\u306b\u691c\u51fa\u3059\u308b\u305f\u3081\u306e\u4fe1\u983c\u6027\u304c\u9ad8\u304f\u3001\u5b89\u5168\u306a\u9078\u629e\u80a2\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u306a\u3069\u306e\u4fb5\u8972\u7684\u306a\u65b9\u6cd5\u3068\u306f\u7570\u306a\u308a\u3001NIPT\u306f\u6bcd\u89aa\u306e\u8840\u6db2\u4e2d\u306b\u542b\u307e\u308c\u308b\u80ce\u5150\u7d30\u80de\u3092\u5206\u6790\u3059\u308b\u3053\u3068\u3067\u3001\u6bcd\u4f53\u3084\u80ce\u5150\u306e\u5065\u5eb7\u306b\u30ea\u30b9\u30af\u3092\u4e0e\u3048\u308b\u3053\u3068\u306a\u304f\u6b63\u78ba\u306a\u7d50\u679c\u3092\u63d0\u4f9b\u3057\u307e\u3059\u3002\u3053\u306e\u305f\u3081\u3001\u598a\u5a20\u4e2d\u306e\u5b89\u5168\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u65b9\u6cd5\u3092\u6c42\u3081\u308b\u89aa\u306b\u3068\u3063\u3066\u9b45\u529b\u7684\u306a\u9078\u629e\u80a2\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>SMS\u304c\u3082\u305f\u3089\u3059\u8ab2\u984c\u306b\u3082\u304b\u304b\u308f\u3089\u305a\u3001\u65e9\u671f\u304b\u3064\u6b63\u78ba\u306a\u8a3a\u65ad\u306b\u3088\u308a\u3001\u500b\u3005\u306e\u751f\u6d3b\u306e\u8cea\u3084\u5168\u4f53\u7684\u306a\u4e88\u5f8c\u304c\u5927\u304d\u304f\u6539\u5584\u3055\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u30bf\u30a4\u30e0\u30ea\u30fc\u306a\u4ecb\u5165\u3068\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001SMS\u3092\u6301\u3063\u3066\u751f\u307e\u308c\u305f\u5b50\u3069\u3082\u305f\u3061\u3082\u5145\u5b9f\u3057\u305f\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002SMS\u3092\u6301\u3064\u3059\u3079\u3066\u306e\u5b50\u3069\u3082\u305f\u3061\u306b\u306f\u5e0c\u671b\u304c\u3042\u308a\u3001\u9069\u5207\u306a\u30b1\u30a2\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u305d\u306e\u6f5c\u5728\u80fd\u529b\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\u3053\u3068\u304c\u3067\u304d\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=\"%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\u652f\u63f4\u56e3\u30fb\u5199\u771f\u3042\u308a\u30fb\u82f1\u8a9e\u3011<a href=\"https:\/\/www.prisms.org\/\">PRISMS | Parents and Researchers Interested in Smith-Magenis Syndrome<\/a><br>PRISMS\uff08Smith-Magenis Syndrome Advocacy\u3001Education\u3001Support Organization\uff09\u306f\u3001\u30b9\u30df\u30b9\u30fb\u30de\u30b8\u30a7\u30cb\u30b9\u75c7\u5019\u7fa4\uff08SMS\uff09\u3092\u6301\u3064\u500b\u4eba\u3001\u305d\u306e\u5bb6\u65cf\u3001\u305d\u3057\u3066\u5f7c\u3089\u3092\u652f\u63f4\u3059\u308b\u5c02\u9580\u5bb6\u306e\u305f\u3081\u306e\u652f\u63f4\u56e3\u4f53\u3067\u3059\u3002PRISMS\u306f\u3001\u6559\u80b2\u3001\u8a8d\u77e5\u5411\u4e0a\u3001\u305d\u3057\u3066SMS\u306b\u5f71\u97ff\u3092\u53d7\u3051\u305f\u3059\u3079\u3066\u306e\u4eba\u3005\u306e\u305f\u3081\u306e\u7814\u7a76\u6a5f\u4f1a\u3092\u5275\u51fa\u3059\u308b\u3053\u3068\u3092\u76ee\u7684\u3068\u3057\u3066\u30011993\u5e742\u67084\u65e5\u306b\u89aa\u3068\u5c02\u9580\u5bb6\u306e\u30b0\u30eb\u30fc\u30d7\u306b\u3088\u3063\u3066\u8a2d\u7acb\u3055\u308c\u305f\u3001\u975e\u55b6\u5229\u306e501(c)(3)\u56e3\u4f53\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=\"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:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1310\/\">Smith ACM, Boyd KE, Brennan C, et al. Smith-Magenis Syndrome. 2001 Oct 22 [Updated 2022 Mar 10]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1310\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1097\/DBP.0b013e318146903d\">Hicks, M., Ferguson, S., Bernier, F., &amp; Lemay, J. F. (2008). A case report of monozygotic twins with Smith-Magenis syndrome. <em>Journal of developmental and behavioral pediatrics : JDBP<\/em>, <em>29<\/em>(1), 42\u201346. https:\/\/doi.org\/10.1097\/DBP.0b013e318146903d<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/genes13020335\">Rinaldi, B., Villa, R., Sironi, A., Garavelli, L., Finelli, P., &amp; Bedeschi, M. F. (2022). Smith-magenis syndrome\u2014Clinical review, biological background and related disorders. <em>Genes<\/em>, <em>13<\/em>(2), 335. https:\/\/doi.org\/10.3390\/genes13020335<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/ajmg.a.62380\">Boot, E., Linders, C. C., Tromp, S. H., van den Boogaard, M. J., &amp; van Eeghen, A. M. (2021). Possible underreporting of pathogenic variants in RAI1 causing Smith-Magenis syndrome. <em>American journal of medical genetics. Part A<\/em>, <em>185<\/em>(10), 3167\u20133169. https:\/\/doi.org\/10.1002\/ajmg.a.62380<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1111\/j.1365-2788.2010.01371.x\">Sloneem, J., Oliver, C., Udwin, O., &amp; Woodcock, K. A. (2011). Prevalence, phenomenology, aetiology and predictors of challenging behaviour in Smith\u2010Magenis syndrome. <em>Journal of Intellectual Disability Research<\/em>, <em>55<\/em>(2), 138\u2013151. https:\/\/doi.org\/10.1111\/j.1365-2788.2010.01371.x<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/9781119432692.ch54\">Smith, A. C. M., &amp; Gropman, A. L. (2021). Smith\u2013magenis syndrome. In J. C. Carey, A. Battaglia, D. Viskochil, &amp; S. B. Cassidy (Eds.), <em>Cassidy and Allanson\u2019s Management of Genetic Syndromes<\/em> (1st ed., pp. 863\u2013893). Wiley. https:\/\/doi.org\/10.1002\/9781119432692.ch54<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/819\">Orphanet. (Last updated November 2020). <em>Smith-Magenis syndrome.<\/em> Reviewed by Dr Laurence PERRIN. Retrieved from https:\/\/www.orpha.net\/en\/disease\/detail\/819<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/omim.org\/entry\/182290\">Online Mendelian Inheritance in Man. <em>SMITH-MAGENIS SYNDROME; SMS<\/em> (Last updated May 2017 by Marla J. F. O&#8217;Neill). Retreived from https:\/\/omim.org\/entry\/182290<\/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\u30b9\u30df\u30b9\u30fb\u30de\u30b8\u30a7\u30cb\u30b9\u75c7\u5019\u7fa4&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-magenis-syndrome\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":87829,"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-83596","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\/83596","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=83596"}],"version-history":[{"count":21,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83596\/revisions"}],"predecessor-version":[{"id":112167,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83596\/revisions\/112167"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/87829"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=83596"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=83596"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=83596"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}