{"id":17469,"date":"2026-01-22T05:39:33","date_gmt":"2026-01-22T05:39:33","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17469"},"modified":"2026-01-22T05:40:58","modified_gmt":"2026-01-22T05:40:58","slug":"tetrasomy-15q26-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/tetrasomy-15q26-syndrome\/","title":{"rendered":"Tetrasomy 15q26 syndrome"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>15q26\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4\uff0815q26 microduplication syndrome\uff09\u306e\u91cd\u75c7\u578b<\/strong><\/li>\n\n\n\n<li><strong>15q\u672b\u7aef\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\uff08Terminal tetrasomy 15q\uff09<\/strong><\/li>\n\n\n\n<li><strong>15q26\u91cd\u8907\u75c7\u5019\u7fa4\uff0815q26 duplication syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>15q\u9060\u4f4d\u90e8\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\uff08Distal tetrasomy 15q\uff09<\/strong><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>15\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0926\u9818\u57df\u306e\u91cd\u8907\uff08\u8a084\u30b3\u30d4\u30fc\u5b58\u5728\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306f\u300115\u756a\u67d3\u8272\u4f53\u306e\u6700\u3082\u672b\u7aef\u306b\u8fd1\u3044\u300cq26\u300d\u3068\u3044\u3046\u30d0\u30f3\u30c9\u9818\u57df\u304c\u904e\u5270\u306b\u5b58\u5728\u3059\u308b\u67d3\u8272\u4f53\u7570\u5e38\u3067\u3059\u3002\u901a\u5e38\u3001\u3053\u306e\u9818\u57df\u306f\u7236\u7531\u6765\u30fb\u6bcd\u7531\u6765\u306e1\u3064\u305a\u3064\uff08\u8a082\u30b3\u30d4\u30fc\uff09\u5b58\u5728\u3057\u307e\u3059\u304c\u3001\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\u3067\u306f\u3053\u308c\u304c4\u30b3\u30d4\u30fc\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u6700\u91cd\u8981\u907a\u4f1d\u5b50\uff1aIGF1R\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u4e2d\u3067\u3001\u81e8\u5e8a\u7684\u306b\u6700\u3082\u91cd\u8981\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u306e\u304c IGF1R\u907a\u4f1d\u5b50 (Insulin-like Growth Factor 1 Receptor\uff1a\u30a4\u30f3\u30b9\u30ea\u30f3\u69d8\u6210\u9577\u56e0\u5b501\u53d7\u5bb9\u4f53) \u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> IGF1R\u306f\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u306e\u6307\u4ee4\u3092\u7d30\u80de\u306b\u4f1d\u3048\u3001\u9aa8\u306e\u4f38\u9577\u3084\u7d30\u80de\u306e\u5897\u6b96\u3092\u4fc3\u3059\u300c\u53d7\u5bb9\u4f53\u300d\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u75c5\u614b\u30e1\u30ab\u30cb\u30ba\u30e0:<\/strong> * \u3053\u306e\u9818\u57df\u304c\u300c\u6b20\u5931\u300d\u3059\u308b\u3068\uff0815q26\u30e2\u30ce\u30bd\u30df\u30fc\uff09\u3001\u53d7\u5bb9\u4f53\u304c\u8db3\u308a\u305a\u8457\u3057\u3044\u4f4e\u8eab\u9577\u306b\u306a\u308a\u307e\u3059\u3002\n<ul class=\"wp-block-list\">\n<li>\u9006\u306b\u3001\u3053\u306e\u9818\u57df\u304c\u300c\u91cd\u8907\u300d\u3042\u308b\u3044\u306f\u300c\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\u300d\u306b\u306a\u308b\u3068\u3001\u53d7\u5bb9\u4f53\u304c\u904e\u5270\u306b\u767a\u73fe\u3057\u307e\u3059\u300215q26\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\u3067\u306fIGF1R\u907a\u4f1d\u5b50\u304c4\u30b3\u30d4\u30fc\u306b\u306a\u308b\u305f\u3081\u3001\u7406\u8ad6\u4e0a\u3001\u6210\u9577\u30b7\u30b0\u30ca\u30eb\u304c\u904e\u5270\u306b\u4f1d\u9054\u3055\u308c\u3001\u904e\u6210\u9577\u3084\u7279\u5b9a\u306e\u9aa8\u683c\u7570\u5e38\u3001\u795e\u7d4c\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u751f\u3058\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5fae\u5c0f\u91cd\u8907\u3068\u306e\u95a2\u9023:<\/strong> \u8fd1\u5e74\u3001\u67d3\u8272\u4f53\u5168\u4f53\u3067\u306f\u306a\u304f\u3001\u3053\u306eq26\u9818\u57df\u5185\u306e\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u7fa4\u306e\u307f\u304c\u91cd\u8907\u3059\u308b<strong>\u5fae\u5c0f<\/strong>\u91cd\u8907\u306e\u75c7\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\u306f\u305d\u308c\u3088\u308a\u3082\u907a\u4f1d\u5b50\u91cf\u304c\u591a\u304f\u3001\u3088\u308a\u9855\u8457\u306a\u75c7\u72b6\u3092\u5448\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u6975\u3081\u3066\u7a00\uff08Ultra-rare\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b63\u78ba\u306a\u983b\u5ea6:<\/strong> \u4e16\u754c\u7684\u306a\u7d71\u8a08\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u304c\u3001\u533b\u5b66\u6587\u732e\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u6570\u306f\u6975\u3081\u3066\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u4e16\u754c\u4e2d\u3067\u6570\u5341\u4f8b\u304b\u3089\u767e\u4f8b\u7a0b\u5ea6\u3068\u63a8\u6e2c\u3055\u308c\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad\u306e\u73fe\u72b6:<\/strong> \u5916\u898b\u7684\u306a\u7279\u5fb4\u304c\u4ed6\u306e\u67d3\u8272\u4f53\u7570\u5e38\u3068\u91cd\u306a\u308b\u90e8\u5206\u304c\u3042\u308b\u305f\u3081\u3001\u9ad8\u5ea6\u306a\u30b2\u30ce\u30e0\u89e3\u6790\uff08\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u7b49\uff09\u304c\u884c\u308f\u308c\u306a\u3044\u9650\u308a\u3001\u6b63\u78ba\u306a\u8a3a\u65ad\u3092\u4e0b\u3059\u3053\u3068\u304c\u96e3\u3057\u3044\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee:<\/strong> \u73fe\u5728\u306e\u5831\u544a\u30ec\u30d9\u30eb\u3067\u306f\u7537\u5973\u5dee\u306f\u8a8d\u3081\u3089\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>Tetrasomy 15q26 syndrome\u306e\u81e8\u5e8a\u50cf\u306f\u3001\u904e\u6210\u9577\u3001\u77e5\u7684\u969c\u5bb3\u3001\u305d\u3057\u3066\u7279\u5fb4\u7684\u306a\u8eab\u4f53\u6240\u898b\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u3088\u3063\u3066\u69cb\u6210\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6210\u9577\u3068\u4f53\u683c<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u904e\u6210\u9577\uff08Overgrowth\uff09:<\/strong> \u591a\u304f\u306e\u75c7\u4f8b\u3067\u51fa\u751f\u6642\u3088\u308a\u4f53\u683c\u304c\u5927\u304d\u304f\u3001\u4e73\u5e7c\u5150\u671f\u304b\u3089\u5c0f\u5150\u671f\u306b\u304b\u3051\u3066\u8eab\u9577\u304c\u6210\u9577\u66f2\u7dda\u306e\u4e0a\u9650\u3092\u4e0a\u56de\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306fIGF1R\u907a\u4f1d\u5b50\u306e\u904e\u5270\u767a\u73fe\u3068\u5bc6\u63a5\u306b\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5927\u982d\u75c7\uff08Macrocephaly\uff09:<\/strong> \u4f53\u683c\u306b\u6bd4\u4f8b\u3057\u3066\u3001\u3042\u308b\u3044\u306f\u76f8\u5bfe\u7684\u306b\u982d\u56f2\u304c\u5927\u304d\u3044\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u767a\u9054\u3068\u77e5\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3:<\/strong> \u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u304c\u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u3067\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u6ede:<\/strong> \u904b\u52d5\u767a\u9054\uff08\u9996\u3059\u308f\u308a\u3001\u6b69\u884c\uff09\u3084\u8a00\u8a9e\u7372\u5f97\u306e\u9045\u308c\u304c\u5e7c\u5150\u671f\u304b\u3089\u9855\u8457\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u7684\u7279\u6027:<\/strong> \u793e\u4f1a\u7684\u306a\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u56f0\u96e3\u3055\u3084\u3001\u7279\u5b9a\u306e\u3053\u3060\u308f\u308a\u3001\u591a\u52d5\u6027\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Facial Features\uff09<\/strong><\/p>\n\n\n\n<p>\u8a3a\u65ad\u306e\u793a\u5506\u3068\u306a\u308b\u3044\u304f\u3064\u304b\u306e\u5916\u898b\u7684\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e83\u3044\u984d:<\/strong> \u984d\u304c\u7a81\u304d\u51fa\u3057\u3066\u304a\u308a\u3001\u5e83\u304f\u898b\u3048\u308b\u3002<\/li>\n\n\n\n<li><strong>\u773c\u9593\u958b\u96e2:<\/strong> \u4e21\u76ee\u306e\u9593\u9694\u304c\u5e83\u304f\u96e2\u308c\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u773c\u77bc\u88c2\u659c\u4e0a:<\/strong> \u76ee\u5c3b\u304c\u4e0a\u304c\u3063\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u8033\u306e\u7570\u5e38:<\/strong> \u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\uff08\u4f4e\u4f4d\u4ed8\u7740\u8033\uff09\u3001\u3042\u308b\u3044\u306f\u8033\u4ecb\u306e\u5f62\u6210\u4e0d\u5168\u3002<\/li>\n\n\n\n<li><strong>\u5c16\u3063\u305f\u984e:<\/strong> \u4e0b\u984e\u304c\u767a\u9054\u3057\u3066\u304a\u308a\u3001\u984e\u5148\u304c\u7d30\u304f\u5c16\u3063\u3066\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308b\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u9aa8\u683c\u304a\u3088\u3073\u8eab\u4f53\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u95a2\u7bc0\u306e\u904e\u4f38\u5c55:<\/strong> \u95a2\u7bc0\u304c\u901a\u5e38\u3088\u308a\u3082\u67d4\u3089\u304b\u304f\u3001\u66f2\u304c\u308a\u3084\u3059\u3044\u3002<\/li>\n\n\n\n<li><strong>\u810a\u67f1\u5074\u5f4e\u75c7:<\/strong> \u80cc\u9aa8\u304c\u5de6\u53f3\u306b\u66f2\u304c\u308b\u75c7\u72b6\u304c\u6210\u9577\u3068\u3068\u3082\u306b\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u7570\u5e38:<\/strong> \u814e\u6b20\u640d\u3084\u99ac\u8e44\u814e\u3001\u814e\u76c2\u62e1\u5f35\u306a\u3069\u306e\u5408\u4f75\u304c\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3:<\/strong> \u983b\u5ea6\u306f\u9ad8\u304f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069\u306e\u5fc3\u5947\u5f62\u304c\u5831\u544a\u3055\u308c\u308b\u30b1\u30fc\u30b9\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>15q26\u9818\u57df\u306e\u904e\u5270\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u5f62\u5f0f\u306b\u76f8\u5f53\u3059\u308b\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff09<\/strong><\/p>\n\n\n\n<p>15q26\u9818\u57df\u304c4\u30b3\u30d4\u30fc\u306b\u306a\u308b\u539f\u56e0\u306b\u306f\u3001\u5927\u304d\u304f\u5206\u3051\u3066\u4ee5\u4e0b\u306e\u30d1\u30bf\u30fc\u30f3\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u904e\u5270\u306a\u30de\u30fc\u30ab\u30fc\u67d3\u8272\u4f53\uff08Supernumerary Marker Chromosome: sSMC\uff09:<br>\u901a\u5e38\u306e46\u672c\u306e\u67d3\u8272\u4f53\u3068\u306f\u5225\u306b\u300115\u756a\u67d3\u8272\u4f53\u7531\u6765\u306eq26\u9818\u57df\u3092\u542b\u3080\u5c0f\u3055\u306a\u300c\u4f59\u5206\u306a\u67d3\u8272\u4f53\u300d\u304c2\u3064\u3001\u3042\u308b\u3044\u306f1\u3064\u306e\u4e8c\u52d5\u539f\u4f53\u67d3\u8272\u4f53\u3068\u3057\u3066\u5b58\u5728\u3059\u308b\u5834\u5408\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u4e0d\u5747\u8861\u8ee2\u5ea7\u306e\u7d99\u627f:<br>\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3001\u6e1b\u6570\u5206\u88c2\u306e\u30df\u30b9\u306b\u3088\u308a15q\u672b\u7aef\u304c\u91cd\u8907\u3057\u305f\u72b6\u614b\u3067\u53d7\u3051\u7d99\u304c\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08De novo\uff09:<br>\u591a\u304f\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u69cb\u6210\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u53d7\u7cbe\u5375\u306e\u5f62\u6210\u904e\u7a0b\u3067\u5076\u7136\u306b\u5fae\u5c0f\u306a\u9818\u57df\u306e\u91cd\u8907\u3084\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u81e8\u5e8a\u75c7\u72b6\u306e\u307f\u3067\u8a3a\u65ad\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306f\u4e0d\u53ef\u80fd\u3067\u3042\u308a\u3001\u5206\u5b50\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u306a\u691c\u67fb\u304c\u5fc5\u9808\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<br>\u78ba\u5b9a\u8a3a\u65ad\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3067\u3059\u300215q26\u9818\u57df\u306e\u30b3\u30d4\u30fc\u6570\u3092\u7cbe\u5bc6\u306b\u6e2c\u5b9a\u3057\u3001\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\uff084\u30b3\u30d4\u30fc\uff09\u3067\u3042\u308b\u3053\u3068\u3092\u7279\u5b9a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u67d3\u8272\u4f53\u6838\u578b\u5206\u6790\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09:<br>\u4f59\u5206\u306a\u67d3\u8272\u4f53\u65ad\u7247\uff08\u30de\u30fc\u30ab\u30fc\u67d3\u8272\u4f53\uff09\u306e\u6709\u7121\u3084\u3001\u67d3\u8272\u4f53\u5168\u4f53\u306e\u69cb\u9020\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>FISH\u6cd5:<br>15q\u672b\u7aef\u7279\u7570\u7684\u306a\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u3066\u3001\u30b3\u30d4\u30fc\u6570\u304c\u904e\u5270\u3067\u3042\u308b\u3053\u3068\u3092\u8996\u899a\u7684\u306b\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u81e8\u5e8a\u8a55\u4fa1\u3068\u753b\u50cf\u8a3a\u65ad:<br>\u904e\u6210\u9577\u306e\u7a0b\u5ea6\u306e\u78ba\u8a8d\u3001\u304a\u3088\u3073\u5fc3\u30a8\u30b3\u30fc\u3001\u8179\u90e8\u30a8\u30b3\u30fc\u3001\u8133MRI\u306b\u3088\u308b\u5408\u4f75\u75c7\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u73fe\u4ee3\u306e\u533b\u5b66\u306b\u304a\u3044\u3066\u3001\u904e\u5270\u306a\u67d3\u8272\u4f53\u9818\u57df\u3092\u524a\u9664\u3057\u305f\u308a\u3001\u907a\u4f1d\u5b50\u91cf\u3092\u6b63\u5e38\u306b\u623b\u3057\u305f\u308a\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6cbb\u7642\u306f\u3001\u75c7\u72b6\u3092\u7ba1\u7406\u3057\u751f\u6d3b\u3092\u30b5\u30dd\u30fc\u30c8\u3059\u308b**\u300c\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5bfe\u75c7\u7642\u6cd5\u300d**\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u652f\u63f4\u30fb\u7642\u80b2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u4ecb\u5165:<\/strong> \u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09\u3092\u7d44\u307f\u5408\u308f\u305b\u3001\u904b\u52d5\u80fd\u529b\u3001\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u306e\u5411\u4e0a\u3092\u56f3\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5225\u652f\u63f4\u6559\u80b2:<\/strong> \u77e5\u7684\u30ec\u30d9\u30eb\u3084\u500b\u3005\u306e\u5b66\u7fd2\u80fd\u529b\u3001\u884c\u52d5\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u6559\u80b2\u652f\u63f4\u8a08\u753b\u3092\u7b56\u5b9a\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6574\u5f62\u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9aa8\u683c\u7ba1\u7406:<\/strong> \u810a\u67f1\u5074\u5f4e\u75c7\u3084\u95a2\u7bc0\u306e\u4e0d\u5b89\u5b9a\u6027\u306b\u5bfe\u3057\u3001\u5b9a\u671f\u7684\u306a\u7d4c\u904e\u89b3\u5bdf\u3068\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u88c5\u5177\u7642\u6cd5\u3084\u5916\u79d1\u7684\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5185\u79d1\u30fb\u5185\u5206\u6ccc\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u904e\u6210\u9577\u306e\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0:<\/strong> \u8457\u3057\u3044\u904e\u6210\u9577\u306b\u4f34\u3046\u5fc3\u8840\u7ba1\u7cfb\u3078\u306e\u8ca0\u62c5\u3084\u9aa8\u683c\u3078\u306e\u5f71\u97ff\u3092\u89b3\u5bdf\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5408\u4f75\u75c7\u6cbb\u7642:<\/strong> \u814e\u5947\u5f62\u3084\u5fc3\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u3001\u305d\u308c\u305e\u308c\u306e\u5c02\u9580\u533b\u306b\u3088\u308b\u6cbb\u7642\uff08\u6295\u85ac\u3084\u624b\u8853\uff09\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5bb6\u65cf\u306b\u5bfe\u3057\u3001\u75be\u60a3\u306e\u6027\u8cea\u3001\u5c06\u6765\u306e\u898b\u901a\u3057\u3001\u304a\u3088\u3073\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u6b63\u78ba\u306a\u60c5\u5831\u63d0\u4f9b\u3068\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u751f\u5b58\u671f\u9593:<\/strong> \u91cd\u7be4\u306a\u5185\u81d3\u5408\u4f75\u75c7\uff08\u5fc3\u5947\u5f62\u3084\u814e\u4e0d\u5168\u306a\u3069\uff09\u304c\u306a\u3051\u308c\u3070\u3001\u5bff\u547d\u305d\u306e\u3082\u306e\u306f\u4e00\u822c\u306e\u65b9\u3068\u5927\u304d\u304f\u5909\u308f\u3089\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09:<\/strong> \u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u3084\u81ea\u9589\u75c7\u7684\u7279\u6027\u306e\u5f37\u3055\u306b\u4f9d\u5b58\u3057\u307e\u3059\u3002\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u4ecb\u5165\u3068\u9069\u5207\u306a\u6559\u80b2\u74b0\u5883\u306b\u3088\u308a\u3001\u81ea\u7acb\u3057\u305f\u751f\u6d3b\u80fd\u529b\u306e\u7372\u5f97\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6210\u4eba\u671f:<\/strong> \u6210\u9577\u306e\u30b9\u30d4\u30fc\u30c9\u306f\u6210\u4eba\u671f\u306b\u306f\u843d\u3061\u7740\u304d\u307e\u3059\u304c\u3001\u77e5\u7684\u969c\u5bb3\u306b\u4f34\u3046\u793e\u4f1a\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u306f\u7d99\u7d9a\u3057\u3066\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>Tetrasomy 15q26 syndrome\uff0815q26\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\u75c7\u5019\u7fa4\uff09\u306f\u300115\u756a\u67d3\u8272\u4f53\u306e\u672b\u7aef\u306b\u3042\u308b\u3001\u4f53\u306e\u6210\u9577\u3084\u8133\u306e\u767a\u9054\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u300c\u8a2d\u8a08\u56f3\uff08\u907a\u4f1d\u5b50\uff09\u300d\u304c\u3001\u901a\u5e38\u3088\u308a2\u3064\u5206\u591a\u304f\u5b58\u5728\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u67d3\u8272\u4f53\u7570\u5e38\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u7279\u5fb4\u3068\u3057\u3066\u3001\u5e7c\u5c11\u671f\u304b\u3089\u306e\u300c\u8457\u3057\u3044\u9ad8\u8eab\u9577\uff08\u904e\u6210\u9577\uff09\u300d\u3084\u300c\u767a\u9054\u306e\u3086\u3063\u304f\u308a\u3055\u300d\u3001\u305d\u3057\u3066\u300c\u72ec\u7279\u306e\u30c1\u30e3\u30fc\u30df\u30f3\u30b0\u306a\u9854\u7acb\u3061\u300d\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u6210\u9577\u3092\u4fc3\u3059\u30b9\u30a4\u30c3\u30c1\u3067\u3042\u308b\u300cIGF1R\u300d\u3068\u3044\u3046\u907a\u4f1d\u5b50\u304c\u904e\u5270\u306b\u50cd\u3044\u3066\u3057\u307e\u3046\u305f\u3081\u3060\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u969b\u3001\u60c5\u5831\u306e\u5c11\u306a\u3055\u306b\u4e0d\u5b89\u3092\u611f\u3058\u3089\u308c\u308b\u3054\u5bb6\u65cf\u3082\u591a\u3044\u304b\u3068\u601d\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u73fe\u5728\u306f\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u306a\u3069\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u539f\u56e0\u3092\u6b63\u78ba\u306b\u77e5\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u65e9\u671f\u304b\u3089\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3084\u7642\u80b2\u3092\u53d6\u308a\u5165\u308c\u3001\u304a\u5b50\u69d8\u4e00\u4eba\u3072\u3068\u308a\u306e\u5f97\u610f\u306a\u3053\u3068\u3084\u30da\u30fc\u30b9\u306b\u5408\u308f\u305b\u305f\u652f\u63f4\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u305d\u306e\u53ef\u80fd\u6027\u3092\u5927\u304d\u304f\u5e83\u3052\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u5c02\u9580\u533b\u30c1\u30fc\u30e0\u3068\u5171\u306b\u3001\u304a\u5b50\u69d8\u306e\u5065\u3084\u304b\u306a\u6210\u9577\u3092\u9577\u304f\u652f\u3048\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Roback, E. W., et al.<\/strong> (1991). <em>An extra ring chromosome 15: Characterization by in situ hybridization and clinical-cytogenetic correlations.<\/em> American Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff0815q\u672b\u7aef\u9818\u57df\u306e\u91cd\u8907\u3068\u81e8\u5e8a\u50cf\u306e\u76f8\u95a2\u3092\u521d\u671f\u306b\u793a\u3057\u305f\u5831\u544a\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Faivre, L., et al.<\/strong> (2002). <em>The 15q26 overgrowth syndrome: A newly recognized phenotype distinct from Sotos syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff0815q26\u306e\u904e\u5270\u304c\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u3068\u306f\u7570\u306a\u308b\u72ec\u81ea\u306e\u904e\u6210\u9577\u75c7\u5019\u7fa4\u3067\u3042\u308b\u3053\u3068\u3092\u5b9a\u7fa9\u3057\u305f\u91cd\u8981\u6587\u732e\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Tuke, M. A., et al.<\/strong> (2014). <em>IGF1R duplication: A cause of overgrowth and intellectual disability.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08IGF1R\u907a\u4f1d\u5b50\u306e\u91cd\u8907\u3068\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\u304c\u904e\u6210\u9577\u306e\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u89e3\u660e\u3057\u305f\u907a\u4f1d\u5b66\u7684\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>15q26 Overgrowth Syndrome \/ Duplication<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u8a3a\u65ad\u3001\u7ba1\u7406\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u95a2\u3059\u308b\u6700\u65b0\u306e\u6a19\u6e96\u7684\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>15q duplications and tetrasomy: A guide for families<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u3001\u3054\u5bb6\u65cf\u5411\u3051\u306e\u5b9f\u8df5\u7684\u30ac\u30a4\u30c9\u8cc7\u6599\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Orphanet<\/strong>: <em>15q26 overgrowth syndrome (ORPHA:96159)<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u75be\u60a3\u306e\u56fd\u969b\u7684\u306a\u30dd\u30fc\u30bf\u30eb\u30b5\u30a4\u30c8\u306b\u3088\u308b\u75c5\u614b\u6982\u8981\u3068\u30ea\u30bd\u30fc\u30b9\u60c5\u5831\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-17469","genetic-screening","type-genetic-screening","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17469","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/genetic-screening"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17469\/revisions"}],"predecessor-version":[{"id":17472,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17469\/revisions\/17472"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17469"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}