{"id":17293,"date":"2026-01-22T01:45:13","date_gmt":"2026-01-22T01:45:13","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17293"},"modified":"2026-01-22T08:18:53","modified_gmt":"2026-01-22T08:18:53","slug":"distal-trisomy-15q-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/distal-trisomy-15q-syndrome\/","title":{"rendered":"Distal Trisomy 15q 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>15q\u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc\u75c7\u5019\u7fa4\uff08Partial Trisomy 15q Syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>15q\u9060\u4f4d\u90e8\u91cd\u8907\u75c7\u5019\u7fa4\uff08Distal 15q Duplication Syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>15q24-qter \u91cd\u8907\u75c7\u5019\u7fa4<\/strong>\uff08\u203b\u91cd\u8907\u9818\u57df\u304c15q24\u304b\u3089\u672b\u7aef\u307e\u3067\u306e\u5834\u5408\uff09<\/li>\n\n\n\n<li><strong>15q26 \u91cd\u8907\u75c7\u5019\u7fa4<\/strong>\uff08\u203b\u6210\u9577\u904e\u5270\u304c\u898b\u3089\u308c\u308b\u7279\u5b9a\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u300115\u756a\u67d3\u8272\u4f53\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u9060\u4f4d\uff08\u672b\u7aef\uff09\u90e8\u5206\u304c\u3001\u901a\u5e382\u672c\u306e\u3068\u3053\u308d3\u672c\u5b58\u5728\u3059\u308b\uff08\u30c8\u30ea\u30bd\u30df\u30fc\uff09\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002\u91cd\u8907\u3059\u308b\u7bc4\u56f2\u306e\u8d77\u70b9\uff0815q21, 15q24, 15q26\u306a\u3069\uff09\u306b\u3088\u3063\u3066\u81e8\u5e8a\u75c7\u72b6\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u8a73\u7d30\u306a\u9818\u57df\u540d\u3092\u4f34\u3063\u3066\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\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\uff0921\u9818\u57df\u304b\u3089\u672b\u7aef\uff08qter\uff09\u307e\u3067<\/strong><\/p>\n\n\n\n<p>\u901a\u5e38\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306e\u300c\u9060\u4f4d\u90e8\u300d\u3068\u306f\u3001<strong>15q21\u301c15q26\u304b\u3089\u672b\u7aef\uff08qter\uff09\u307e\u3067<\/strong>\u306e\u9818\u57df\u3092\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30b2\u30ce\u30e0\u4e0a\u306e\u91cd\u8981\u6027\u3068\u8cac\u4efb\u9818\u57df<\/strong><\/p>\n\n\n\n<p>15\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u672b\u7aef\u306b\u306f\u3001\u80ce\u5150\u671f\u306e\u6210\u9577\u3001\u795e\u7d4c\u767a\u9054\u3001\u9aa8\u683c\u5f62\u6210\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u5bc6\u96c6\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>IGF1R\u907a\u4f1d\u5b50\uff0815q26.3\uff09\uff1a<\/strong> \u30a4\u30f3\u30b9\u30ea\u30f3\u69d8\u6210\u9577\u56e0\u5b501\u53d7\u5bb9\u4f53\u3002\u3053\u306e\u907a\u4f1d\u5b50\u304c\u30c8\u30ea\u30bd\u30df\u30fc\uff083\u30b3\u30d4\u30fc\uff09\u306b\u306a\u308b\u3068\u3001\u6210\u9577\u56e0\u5b50\u306e\u30b7\u30b0\u30ca\u30eb\u304c\u904e\u5270\u306b\u306a\u308a\u3001\u9ad8\u8eab\u9577\u3084\u5927\u304d\u306a\u624b\u8db3\u3068\u3044\u3063\u305f\u300c\u904e\u6210\u9577\u300d\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>CHRNA7\u907a\u4f1d\u5b50\uff1a<\/strong> \u795e\u7d4c\u4f1d\u9054\u306b\u95a2\u308f\u308a\u3001\u77e5\u7684\u969c\u5bb3\u3084\u3066\u3093\u304b\u3093\u3001\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u7279\u6027\u3068\u306e\u95a2\u9023\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>MEF2A\u907a\u4f1d\u5b50\uff1a<\/strong> \u5fc3\u81d3\u3084\u7b4b\u8089\u306e\u767a\u9054\u306b\u95a2\u4e0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u304c\u904e\u5270\u306b\u5b58\u5728\u3059\u308b\u3053\u3068\u3067\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7523\u751f\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3001\u5168\u8eab\u306b\u3055\u307e\u3056\u307e\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3059\u300c\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\u300d\u304c\u767a\u75c7\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3067\u3059\u3002<\/p>\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<p>\u6b63\u78ba\u306a\u6709\u75c5\u7387\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u3053\u308c\u307e\u3067\u306b\u533b\u5b66\u6587\u732e\u3067\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u6570\u306f\u4e16\u754c\u5168\u4f53\u3067\u3082\u6570\u767e\u4f8b\u306b\u6e80\u305f\u306a\u3044\u3001\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8a3a\u65ad\u306e\u73fe\u72b6\uff1a<\/strong> \u4ee5\u524d\u306f\u67d3\u8272\u4f53\u691c\u67fb\u306e\u7cbe\u5ea6\u304c\u9650\u3089\u308c\u3066\u3044\u305f\u305f\u3081\u300c\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u300d\u3068\u3055\u308c\u3066\u3044\u305f\u30b1\u30fc\u30b9\u3082\u591a\u304b\u3063\u305f\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002\u8fd1\u5e74\u306e\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff08CMA\uff09\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u5fae\u5c0f\u306a\u91cd\u8907\u4f8b\u304c\u6b63\u78ba\u306b\u8a3a\u65ad\u3055\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee\uff1a<\/strong> \u7537\u5973\u3067\u767a\u75c7\u983b\u5ea6\u306b\u6709\u610f\u306a\u5dee\u306f\u3042\u308a\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>Distal Trisomy 15q syndrome\u306e\u75c7\u72b6\u306f\u3001\u91cd\u8907\u3059\u308b\u7bc4\u56f2\u3068\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u5de6\u53f3\u3055\u308c\u307e\u3059\u3002\u4ee3\u8868\u7684\u306a\u81e8\u5e8a\u50cf\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6210\u9577\u3068\u4f53\u683c\uff08Growth\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9ad8\u8eab\u9577\uff08Overgrowth\uff09\uff1a<\/strong> 15q26\u9818\u57df\uff08IGF1R\u907a\u4f1d\u5b50\uff09\u304c\u542b\u307e\u308c\u308b\u5834\u5408\u3001\u51fa\u751f\u6642\u304b\u3089\u4f53\u304c\u5927\u304d\u304f\u3001\u6210\u9577\u671f\u3092\u901a\u3058\u3066\u9ad8\u8eab\u9577\u3001\u5927\u982d\u75c7\uff08\u982d\u56f2\u304c\u5927\u304d\u3044\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5927\u304d\u306a\u624b\u8db3\uff1a<\/strong> \u6307\u304c\u9577\u3044\uff08\u30af\u30e2\u6307\u75c7\u69d8\uff09\u3001\u3042\u308b\u3044\u306f\u624b\u8db3\u305d\u306e\u3082\u306e\u304c\u4f53\u683c\u306b\u6bd4\u3057\u3066\u5927\u304d\u3044\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9006\u306b\u6210\u9577\u969c\u5bb3\u304c\u51fa\u308b\u5834\u5408\uff1a<\/strong> \u91cd\u8907\u306e\u8d77\u70b9\u304c\u3088\u308a\u8fd1\u4f4d\uff08\u4e2d\u5fc3\u5074\uff09\u3067\u3042\u3063\u305f\u308a\u3001\u4ed6\u306e\u67d3\u8272\u4f53\u6b20\u5931\u3092\u4f34\u3046\u300c\u4e0d\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u306e\u5834\u5408\u306f\u3001\u9006\u306b\u4f4e\u8eab\u9577\u3084\u767a\u80b2\u4e0d\u5168\u3092\u5448\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u767a\u9054\u3068\u77e5\u7684\u6a5f\u80fd\uff08Neurodevelopment\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09\uff1a<\/strong> \u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u3067\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u77e5\u7684\u767a\u9054\u306e\u9045\u6ede\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u6ede\uff1a<\/strong> \u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\uff1a<\/strong> \u8a00\u8449\u306e\u767a\u8a71\u304c\u9045\u308c\u308b\u3001\u3042\u308b\u3044\u306f\u7406\u89e3\u306b\u6bd4\u3057\u3066\u767a\u8a71\u304c\u5c11\u306a\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027\uff1a<\/strong> \u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08ASD\uff09\u306b\u4f3c\u305f\u7279\u6027\u3001\u591a\u52d5\u6027\u3001\u3042\u308b\u3044\u306f\u975e\u5e38\u306b\u7a4f\u3084\u304b\u306a\u6027\u683c\u306a\u3069\u3001\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306b\u5171\u901a\u3057\u3066\u898b\u3089\u308c\u3084\u3059\u3044\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u984d\u306e\u7a81\u51fa\uff1a<\/strong> \u524d\u982d\u90e8\u304c\u5f35\u308a\u51fa\u3057\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u773c\u306e\u7570\u5e38\uff1a<\/strong> \u773c\u77bc\u88c2\u659c\u4e0b\uff08\u30bf\u30ec\u76ee\uff09\u3001\u3042\u308b\u3044\u306f\u659c\u8996\u3001\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li><strong>\u9f3b\uff1a<\/strong> \u9f3b\u6839\u90e8\u304c\u4f4e\u304f\u3001\u9f3b\u5148\u304c\u4e38\u3044\u3001\u3042\u308b\u3044\u306f\u9577\u3044\u9f3b\u3002<\/li>\n\n\n\n<li><strong>\u53e3\uff1a<\/strong> \u9ad8\u53e3\u84cb\uff08\u53e3\u306e\u4e2d\u306e\u5929\u4e95\u304c\u9ad8\u3044\uff09\u3001\u5c0f\u984e\u75c7\uff08\u3042\u3054\u304c\u5c0f\u3055\u3044\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8033\uff1a<\/strong> \u8033\u4ecb\u306e\u4f4e\u4f4d\u4ed8\u7740\uff08\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\uff09\u3001\u5f8c\u65b9\u56de\u8ee2\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u9aa8\u683c\u304a\u3088\u3073\u7b4b\u8089<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u95a2\u7bc0\u306e\u904e\u4f38\u5c55\u307e\u305f\u306f\u62d8\u7e2e\uff1a<\/strong> \u95a2\u7bc0\u304c\u975e\u5e38\u306b\u67d4\u3089\u304b\u3044\u5834\u5408\u3068\u3001\u9006\u306b\u786c\u304f\u3066\u52d5\u304b\u3057\u306b\u304f\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5074\u5f2f\u75c7\uff1a<\/strong> \u80cc\u9aa8\u304c\u5de6\u53f3\u306b\u66f2\u304c\u308b\u75c7\u72b6\u304c\u3001\u6210\u9577\u671f\u306b\u73fe\u308c\u3084\u3059\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09\uff1a<\/strong> \u4e73\u5150\u671f\u306b\u300c\u3075\u306b\u3083\u3075\u306b\u3083\u300d\u3057\u305f\u611f\u3058\u304c\u3042\u308a\u3001\u904b\u52d5\u306e\u767a\u9054\u3092\u59a8\u3052\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u5185\u81d3\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff1a<\/strong> \u4e2d\u9694\u6b20\u640d\uff08\u5fc3\u81d3\u306e\u58c1\u306b\u7a74\u304c\u958b\u304f\uff09\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6ccc\u5c3f\u751f\u6b96\u5668\u5947\u5f62\uff1a<\/strong> \u814e\u5947\u5f62\u3084\u7537\u5150\u306b\u304a\u3051\u308b\u505c\u7559\u7cbe\u5de3\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>15\u756a\u67d3\u8272\u4f53\u9577\u8155\u9060\u4f4d\u90e8\uff0815q21-qter\uff09\u306e\u91cd\u8907\uff08\u30c8\u30ea\u30bd\u30df\u30fc\uff09<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u67d3\u8272\u4f53\u7570\u5e38\u304c\u3069\u306e\u3088\u3046\u306b\u767a\u751f\u3059\u308b\u304b\u306b\u3088\u308a\u3001\u4ee5\u4e0b\u306e3\u3064\u306e\u30d1\u30bf\u30fc\u30f3\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u300c\u6b21\u306e\u5b50\u4f9b\u3078\u306e\u907a\u4f1d\u30ea\u30b9\u30af\u300d\u3092\u5224\u65ad\u3059\u308b\u4e0a\u3067\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u65b0\u751f\u7a81\u7136\u5909\u7570\uff08De novo mutation\uff09\uff1a\u7d0450%<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u539f\u56e0\uff1a<\/strong> \u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3059\u304c\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u76f4\u5f8c\u306e\u5206\u88c2\u904e\u7a0b\u3067\u5076\u7136\u306b15q\u306e\u90e8\u5206\u304c\u91cd\u8907\u3057\u305f\u3082\u306e\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u518d\u767a\u30ea\u30b9\u30af\uff1a<\/strong> \u975e\u5e38\u306b\u4f4e\u3044\u3067\u3059\uff08\u4e00\u822c\u96c6\u56e3\u3068\u540c\u7b49\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5bb6\u65cf\u6027\u4e0d\u5747\u8861\u578b\u8ee2\u5ea7\uff08Inherited Unbalanced Translocation\uff09\uff1a\u7d0450%<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u539f\u56e0\uff1a<\/strong> \u7247\u65b9\u306e\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u304c\u3001\u91cf\u306f\u6b63\u5e38\u306a\u306e\u3067\u672c\u4eba\u306f\u5065\u5eb7\uff09\u300d\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30e1\u30ab\u30cb\u30ba\u30e0\uff1a<\/strong> \u89aa\u306e\u751f\u6b96\u7d30\u80de\u304c\u3067\u304d\u308b\u969b\u306b\u3001\u67d3\u8272\u4f53\u304c\u4e0d\u5747\u7b49\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u3053\u3068\u3067\u300115q\u304c\u4f59\u5206\u306b\u542b\u307e\u308c\u308b\u300c\u4e0d\u5747\u8861\u300d\u306a\u72b6\u614b\u306b\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u4ed6\u306e\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\uff08\u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc\uff0b\u90e8\u5206\u30e2\u30ce\u30bd\u30df\u30fc\uff09\u3002<\/li>\n\n\n\n<li><strong>\u518d\u767a\u30ea\u30b9\u30af\uff1a<\/strong> \u89aa\u304c\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u6b21\u5b50\u306b\u3082\u67d3\u8272\u4f53\u7570\u5e38\u304c\u751f\u3058\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u304f\u306a\u308b\u305f\u3081\u3001\u8a73\u7d30\u306a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u540c\u8155\u67d3\u8272\u4f53\uff08Isochromosome\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6975\u3081\u3066\u7a00\u3067\u3059\u304c\u300115\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u304c2\u3064\u7d44\u307f\u5408\u308f\u3055\u3063\u305f\u7279\u6b8a\u306a\u69cb\u9020\u3092\u6301\u3064\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u5916\u898b\u7684\u7279\u5fb4\u3084\u767a\u9054\u306e\u9045\u308c\u304b\u3089\u672c\u75be\u60a3\u3092\u7591\u3044\u3001\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u67d3\u8272\u4f53\u6838\u578b\u5206\u6790\uff08G\u30d0\u30f3\u30c9\u5206\u67d3\u6cd5\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5168\u4f53\u7684\u306a\u67d3\u8272\u4f53\u306e\u6570\u3084\u5f62\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u5927\u304d\u306a\u91cd\u8907\u3067\u3042\u308c\u3070\u3053\u308c\u3067\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u73fe\u5728\u306e\u8a3a\u65ad\u306e\u7b2c\u4e00\u9078\u629e<\/strong>\u3067\u3059\u3002\u30b2\u30ce\u30e0\u5168\u4f53\u3092\u975e\u5e38\u306b\u7d30\u304b\u304f\u30b9\u30ad\u30e3\u30f3\u3057\u300115q\u306e\u3069\u306e\u7bc4\u56f2\u304c\u3001\u3069\u306e\u304f\u3089\u3044\u306e\u30b5\u30a4\u30ba\u3067\u91cd\u8907\u3057\u3066\u3044\u308b\u304b\u3092\u6b63\u78ba\u306b\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>FISH\u6cd5\uff08\u86cd\u5149\u30a4\u30f3\u30b5\u30a4\u30c1\u30e5\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>15q\u672b\u7aef\u306b\u7279\u7570\u7684\u306a\u86cd\u5149\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u3001\u305d\u306e\u9818\u57df\u304c3\u3064\u3042\u308b\u3053\u3068\u3092\u8996\u899a\u7684\u306b\u78ba\u8a8d\u3057\u307e\u3059\u3002\u89aa\u306e\u8ee2\u5ea7\u306e\u6709\u7121\u3092\u8abf\u3079\u308b\u969b\u306b\u3082\u6709\u7528\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u73fe\u4ee3\u533b\u5b66\u306b\u304a\u3044\u3066\u3001\u91cd\u8907\u3057\u305f\u67d3\u8272\u4f53\u305d\u306e\u3082\u306e\u3092\u4fee\u6b63\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6cbb\u7642\u306e\u4e3b\u773c\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f**\u300c\u5bfe\u75c7\u7642\u6cd5\u300d<strong>\u3068<\/strong>\u300c\u767a\u9054\u652f\u63f4\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09\u300d**\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3\uff1a<\/strong> \u91cd\u7be4\u306a\u5fc3\u5947\u5f62\u304c\u3042\u308b\u5834\u5408\u3001\u4e73\u5e7c\u5150\u671f\u306b\u5916\u79d1\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5074\u5f2f\u75c7\uff1a<\/strong> \u80cc\u9aa8\u306e\u66f2\u304c\u308a\u304c\u5f37\u3044\u5834\u5408\u3001\u30b3\u30eb\u30bb\u30c3\u30c8\u306b\u3088\u308b\u77ef\u6b63\u3084\u624b\u8853\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\uff1a<\/strong> \u814e\u5947\u5f62\u3084\u505c\u7559\u7cbe\u5de3\u306a\u3069\u306b\u5bfe\u3059\u308b\u5916\u79d1\u7684\u4ecb\u5165\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u9054\u652f\u63f4\u30fb\u7642\u80b2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\uff1a<\/strong> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u5bfe\u3059\u308b\u30a2\u30d7\u30ed\u30fc\u30c1\u3084\u3001\u6b69\u884c\u306a\u3069\u306e\u7c97\u5927\u904b\u52d5\u306e\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\uff1a<\/strong> \u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\uff08\u5fae\u5c0f\u904b\u52d5\uff09\u3084\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u306e\u8a13\u7df4\u3001\u611f\u899a\u7d71\u5408\u7642\u6cd5\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a<\/strong> \u69cb\u97f3\u8a13\u7df4\u3001\u3042\u308b\u3044\u306f\u30b5\u30a4\u30f3\u3001\u7d75\u30ab\u30fc\u30c9\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u306a\u3069\u306e\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u6d3b\u7528\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5185\u79d1\u7684\u30fb\u5fc3\u7406\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5185\u5206\u6ccc\u79d1\uff1a<\/strong> \u904e\u6210\u9577\uff08\u9ad8\u8eab\u9577\uff09\u304c\u8457\u3057\u3044\u5834\u5408\u3001\u9aa8\u7aef\u7dda\u306e\u9589\u9396\u6642\u671f\u306a\u3069\u3092\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u5185\u5206\u6ccc\u5b66\u7684\u306a\u8a55\u4fa1\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u79d1\u30fb\u5fc3\u7642\u5185\u79d1\uff1a<\/strong> \u81ea\u9589\u7684\u50be\u5411\u3001\u591a\u52d5\u3001\u30d1\u30cb\u30c3\u30af\u306a\u3069\u306e\u884c\u52d5\u8ab2\u984c\u306b\u5bfe\u3057\u3001\u74b0\u5883\u8abf\u6574\u3084\u85ac\u7269\u7642\u6cd5\uff08\u5fc5\u8981\u6642\uff09\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\uff1a<\/strong> \u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u306f\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u9069\u5207\u306a\u7ba1\u7406\u3092\u884c\u3044\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>\u75be\u60a3\u306e\u7406\u89e3\u3001\u5c06\u6765\u306e\u898b\u901a\u3057\u3001\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u3001\u5c02\u9580\u533b\u3084\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u76f8\u8ac7\u3059\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u3054\u5bb6\u65cf\u306e\u7cbe\u795e\u7684\u30b1\u30a2\u3082\u91cd\u8981\u306a\u4e00\u90e8\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c<\/strong><\/h2>\n\n\n\n<p>\u4e88\u5f8c\u306f\u5408\u4f75\u75c7\u306e\u6709\u7121\u3068\u91cd\u75c7\u5ea6\u306b\u5de6\u53f3\u3055\u308c\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u75c7\u4f8b\u3067\u306f\u9069\u5207\u306a\u533b\u7642\u7684\u30fb\u6559\u80b2\u7684\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u6210\u4eba\u671f\u307e\u3067\u5b58\u547d\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81ea\u7acb\u306e\u7a0b\u5ea6\uff1a<\/strong> \u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u3088\u308a\u3001\u751f\u6daf\u3092\u901a\u3058\u3066\u4e00\u5b9a\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u305d\u308c\u305e\u308c\u306e\u30da\u30fc\u30b9\u3067\u65b0\u3057\u3044\u30b9\u30ad\u30eb\u3092\u7fd2\u5f97\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5065\u5eb7\u7ba1\u7406\uff1a<\/strong> \u6210\u9577\u306b\u4f34\u3046\u5074\u5f2f\u75c7\u306e\u9032\u884c\u3084\u3001\u7cbe\u795e\u9762\u3067\u306e\u5909\u5316\u306b\u6ce8\u610f\u3057\u306a\u304c\u3089\u5b9a\u671f\u7684\u306a\u901a\u9662\u3092\u7d9a\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\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>Distal Trisomy 15q syndrome\uff0815q\u9060\u4f4d\u90e8\u30c8\u30ea\u30bd\u30df\u30fc\u75c7\u5019\u7fa4\uff09\u306f\u300115\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u4f59\u5206\u306b\u3042\u308b\u3053\u3068\u3067\u3001\u5168\u8eab\u306e\u6210\u9577\u3084\u8133\u306e\u767a\u9054\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5927\u304d\u306a\u4f53\u683c\u3084\u9577\u3044\u6307\u3001\u305d\u3057\u3066\u3086\u3063\u304f\u308a\u3068\u3057\u305f\u767a\u9054\u306e\u6b69\u307f\u304c\u7279\u5fb4\u3067\u3059\u304c\u3001\u305d\u306e\u73fe\u308c\u65b9\u306f\u304a\u5b50\u69d8\u306b\u3088\u3063\u3066\u4e00\u4eba\u3072\u3068\u308a\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u6cbb\u7642\u6cd5\u304c\u306a\u3044\u300d\u3068\u3044\u3046\u8a00\u8449\u306f\u7d76\u671b\u7684\u306b\u805e\u3053\u3048\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u73fe\u4ee3\u3067\u306f\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\uff08\u30ea\u30cf\u30d3\u30ea\uff09\u3084\u7279\u5225\u652f\u63f4\u6559\u80b2\u3001\u305d\u3057\u3066\u5404\u8a3a\u7642\u79d1\u306e\u9023\u643a\u306b\u3088\u3063\u3066\u3001\u304a\u5b50\u69d8\u306e\u53ef\u80fd\u6027\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\u9053\u304c\u958b\u304b\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u3068\u5411\u304d\u5408\u3046\u3054\u5bb6\u65cf\u306f\u3001\u6c7a\u3057\u3066\u4e00\u4eba\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u5c02\u9580\u533b\u3084\u540c\u3058\u60a9\u307f\u3092\u6301\u3064\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u3068\u3064\u306a\u304c\u308a\u3001\u6b63\u78ba\u306a\u60c5\u5831\u3092\u5f97\u306a\u304c\u3089\u3001\u304a\u5b50\u69d8\u306e\u300c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u3053\u3068\u300d\u3092\u4e00\u3064\u3072\u3068\u3064\u5927\u5207\u306b\u898b\u5b88\u3063\u3066\u3044\u304f\u3053\u3068\u304c\u3001\u8c4a\u304b\u306a\u672a\u6765\u3078\u306e\u9375\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Zollino, M., et al.<\/strong> (1999). <em>The distal 15q trisomy syndrome: a clinical and molecular study.<\/em> American Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff0815q\u9060\u4f4d\u90e8\u30c8\u30ea\u30bd\u30df\u30fc\u306e\u81e8\u5e8a\u7684\u30fb\u5206\u5b50\u5b66\u7684\u7279\u5fb4\u3092\u307e\u3068\u3081\u305f\u57fa\u76e4\u7684\u306a\u7814\u7a76\u8ad6\u6587\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Faivre, L., et al.<\/strong> (2002). <em>Clinical and molecular characterization of 15q26.3 duplication.<\/em> European Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08IGF1R\u907a\u4f1d\u5b50\u306e\u91cd\u8907\u3068\u904e\u6210\u9577\u306e\u95a2\u9023\u3092\u8a73\u8ff0\u3057\u305f\u8ad6\u6587\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Tatton-Brown, K., et al.<\/strong> (2004). <em>The 15q26 overgrowth syndrome: a newly recognized phenotype.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff0815q26\u91cd\u8907\u306b\u3088\u308b\u904e\u6210\u9577\u75c7\u5019\u7fa4\u306e\u5b9a\u7fa9\u3068\u75c7\u4f8b\u5831\u544a\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>15q trisomy \/ duplication<\/em>. (<a href=\"https:\/\/www.rarechromo.org\/\">https:\/\/www.rarechromo.org\/<\/a>)\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\u306e\u60a3\u8005\u30fb\u5bb6\u65cf\u5411\u3051\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u5305\u62ec\u7684\u306a\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>15q24 Microduplication<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff0815q24\u91cd\u8907\u306b\u7126\u70b9\u3092\u5f53\u3066\u305f\u3001\u6700\u65b0\u306e\u7ba1\u7406\u6307\u91dd\u3092\u542b\u3080\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>OMIM (Online Mendelian Inheritance in Man)<\/strong>: <em>#608320 CHROMOSOME 15q26.3 DUPLICATION SYNDROME<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u672c\u75be\u60a3\u306e\u907a\u4f1d\u5b50\u5ea7\u304a\u3088\u3073\u5b66\u8853\u7684\u77e5\u898b\u3092\u7db2\u7f85\u3057\u305f\u4e16\u754c\u7684\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\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","protected":false},"featured_media":0,"template":"","class_list":["post-17293","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\/17293","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":3,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17293\/revisions"}],"predecessor-version":[{"id":17595,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17293\/revisions\/17595"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17293"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}