{"id":16742,"date":"2026-01-20T01:27:43","date_gmt":"2026-01-20T01:27:43","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16742"},"modified":"2026-01-20T01:28:40","modified_gmt":"2026-01-20T01:28:40","slug":"17q12-duplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/17q12-duplication-syndrome\/","title":{"rendered":"17q12 duplication 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>17q12\u91cd\u8907\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>17q12\u5fae\u7d30\u91cd\u8907\u75c7\u5019\u7fa4\uff0817q12 microduplication syndrome\uff09<\/li>\n\n\n\n<li>\u90e8\u5206\u7684\u30c8\u30ea\u30bd\u30df\u30fc17q12\uff08Partial trisomy 17q12\uff09<\/li>\n\n\n\n<li>17q12\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff08\u91cd\u8907\uff09\uff0817q12 copy number variant, duplication\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a17q12\u6b20\u5931\u75c7\u5019\u7fa4\uff0817q12 deletion syndrome\uff09\u203b\u672c\u75be\u60a3\u3068\u5bfe\u306b\u306a\u308b\u300c\u6b20\u5931\u300d\u306e\u75be\u60a3<\/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>17\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0912\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e17\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306b\u3042\u308b\u300c12\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u91cd\u8907\uff08\u30b3\u30d4\u30fc\u6570\u304c\u901a\u5e38\u306e2\u672c\u304b\u30893\u672c\u306b\u5897\u52a0\uff09\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u91cd\u8981\u6027\u3011<\/p>\n\n\n\n<p>17q12\u9818\u57df\u306f\u3001\u7d041.4\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u306e\u9577\u3055\u3092\u6301\u3064\u9818\u57df\u3067\u3001\u3053\u3053\u306b\u306f\u7d0415\u500b\u4ee5\u4e0a\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u304c\u300c\u6b20\u5931\uff08Deletion\uff09\u300d\u3059\u308b\u3068\u3001\u814e\u56a2\u80de\u3084\u82e5\u5e74\u767a\u75c7\u7cd6\u5c3f\u75c5\uff08MODY5\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u300c17q12\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3001\u672c\u75be\u60a3\u3067\u3042\u308b\u300c\u91cd\u8907\uff08Duplication\uff09\u300d\u306f\u3001\u540c\u3058\u9818\u57df\u306e\u907a\u4f1d\u5b50\u304c\u5897\u3048\u3059\u304e\u3066\u3057\u307e\u3046\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u542b\u307e\u308c\u308b\u4e3b\u8981\u306a\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>\u91cd\u8907\u306b\u3088\u308b\u75c7\u72b6\u5f62\u6210\u306b\u306f\u3001\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u306e\u904e\u5270\uff08\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff09\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>HNF1B (Hepatocyte Nuclear Factor 1-Beta):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u3059\u308b\u3068\u814e\u81d3\u75c5\u3084\u7cd6\u5c3f\u75c5\u306e\u539f\u56e0\u306b\u306a\u308a\u307e\u3059\u304c\u3001\u91cd\u8907\u3057\u305f\u5834\u5408\u306e\u5f71\u97ff\u306f\u307e\u3060\u5b8c\u5168\u306b\u306f\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u8133\u3084\u814e\u81d3\u306e\u767a\u9054\u306b\u304a\u3051\u308b\u5236\u5fa1\u30d0\u30e9\u30f3\u30b9\u3092\u5d29\u3059\u4e00\u56e0\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>LHX1 (LIM Homeobox 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306e\u79fb\u52d5\u3084\u914d\u7f6e\u3001\u304a\u3088\u3073\u751f\u6b96\u5668\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u904e\u5270\u767a\u73fe\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306b\u898b\u3089\u308c\u308b**\u300c\u3066\u3093\u304b\u3093\u300d<strong>\u3084<\/strong>\u300c\u795e\u7d4c\u767a\u9054\u75c7\uff08\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u306a\u3069\uff09\u300d<strong>\u3001\u304a\u3088\u3073<\/strong>\u300c\u5b66\u7fd2\u969c\u5bb3\u300d**\u306e\u4e3b\u8981\u306a\u8981\u56e0\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u7814\u7a76\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ACACA \/ AATF:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8102\u8cea\u4ee3\u8b1d\u3084\u7d30\u80de\u30b7\u30b0\u30ca\u30eb\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3001\u91cd\u8907\u7bc4\u56f2\u306b\u542b\u307e\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/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>\u7a00\uff08Rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u4e00\u822c\u96c6\u56e3\u306b\u304a\u3051\u308b\u983b\u5ea6\u306f\u6570\u5343\u4eba\u301c\u6570\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3044\u304f\u3064\u304b\u306e\u5927\u898f\u6a21\u306a\u907a\u4f1d\u5b66\u7684\u8abf\u67fb\u3067\u306f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u30c7\u30fc\u30bf\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e00\u822c\u96c6\u56e3\uff08\u672a\u8a3a\u65ad\u306e\u4fdd\u56e0\u8005\u542b\u3080\uff09\u3067\u306f\u3001\u7d041\/10,000 \u301c 1\/14,000\u7a0b\u5ea6\u3068\u3044\u3046\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u767a\u9054\u9045\u6ede\u3084\u77e5\u7684\u969c\u5bb3\u3092\u6301\u3064\u60a3\u8005\u7fa4\u306e\u4e2d\u3067\u306f\u3001\u7d040.3%\u301c0.9%\u7a0b\u5ea6\u306e\u983b\u5ea6\u3067\u898b\u3064\u304b\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3010\u8a3a\u65ad\u7387\u306b\u95a2\u3059\u308b\u6ce8\u610f\u70b9\u3011<\/p>\n\n\n\n<p>17q12\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001\u8eab\u4f53\u7684\u306a\u5927\u5947\u5f62\uff08\u5fc3\u81d3\u75c5\u3084\u898b\u305f\u76ee\u306e\u7279\u5fb4\u306a\u3069\uff09\u3092\u4f34\u308f\u306a\u3044\u3053\u3068\u304c\u591a\u304f\u3001\u75c7\u72b6\u304c\u300c\u767a\u9054\u306e\u9045\u308c\u300d\u3084\u300c\u3066\u3093\u304b\u3093\u300d\u306e\u307f\u3067\u3042\u308b\u5834\u5408\u304c\u591a\u3005\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u67d3\u8272\u4f53\u691c\u67fb\uff08\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\uff09\u304c\u884c\u308f\u308c\u306a\u3044\u9650\u308a\u8a3a\u65ad\u304c\u3064\u304b\u305a\u3001\u5358\u306a\u308b\u300c\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u969c\u5bb3\u300d\u3084\u300c\u7279\u767a\u6027\u3066\u3093\u304b\u3093\u300d\u3068\u3057\u3066\u6271\u308f\u308c\u3066\u3044\u308b\u30b1\u30fc\u30b9\u304c\u76f8\u5f53\u6570\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\uff08\u904e\u5c11\u8a3a\u65ad\uff09\u3002<\/p>\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>17q12 duplication syndrome\u306e\u75c7\u72b6\u306f\u3001\u975e\u5e38\u306b\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\uff08\u53ef\u5909\u8868\u73fe\u6027\uff09\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3092\u6301\u3064\u65b9\u3082\u3044\u308c\u3070\u3001\u901a\u5e38\u5b66\u7d1a\u306b\u901a\u3044\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u65b9\u3082\u304a\u308a\u3001\u7121\u75c7\u72b6\u306e\u307e\u307e\u5927\u4eba\u306b\u306a\u308a\u3001\u5b50\u4f9b\u306e\u691c\u67fb\u3092\u304d\u3063\u304b\u3051\u306b\u81ea\u5206\u304c\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u3053\u3068\u3092\u77e5\u308b\u89aa\u5fa1\u3055\u3093\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u81e8\u5e8a\u7684\u7279\u5fb4\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd\uff08\u4e2d\u6838\u7684\u306a\u7279\u5fb4\uff09<\/strong><\/p>\n\n\n\n<p>\u591a\u304f\u306e\u8a3a\u65ad\u3055\u308c\u305f\u60a3\u8005\u3055\u3093\u306b\u304a\u3044\u3066\u3001\u4f55\u3089\u304b\u306e\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u6ede\uff08DD\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5e7c\u5150\u671f\u306e\u904b\u52d5\u767a\u9054\uff08\u6b69\u304d\u59cb\u3081\u306a\u3069\uff09\u3084\u3001\u8a00\u8449\u306e\u7372\u5f97\u306b\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b**\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\uff08Expressive language delay\uff09**\u306f\u9855\u8457\u3067\u3001\u53d7\u8a3a\u306e\u304d\u3063\u304b\u3051\u306b\u306a\u308a\u3084\u3059\u3044\u75c7\u72b6\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u5883\u754c\u57df\uff08Borderline\uff09\u3084\u5e73\u5747\u7684\u306a\u77e5\u80fd\uff08Normal IQ\uff09\u3092\u6301\u3064\u65b9\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u77e5\u80fd\u6307\u6570\u306b\u554f\u984c\u304c\u306a\u304f\u3066\u3082\u3001\u5b66\u7fd2\u969c\u5bb3\uff08LD\uff09\u306e\u3088\u3046\u306a\u7279\u5b9a\u306e\u82e6\u624b\u3055\u3092\u6301\u3064\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u6a5f\u80fd:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09\u304c\u4e73\u5e7c\u5150\u671f\u306b\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u904b\u52d5\u306e\u4e0d\u5668\u7528\u3055\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7279\u6027<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u793e\u4f1a\u7684\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u96e3\u3057\u3055\u3084\u3001\u3053\u3060\u308f\u308a\u3001\u53cd\u5fa9\u884c\u52d5\u306a\u3069\u306eASD\u7279\u6027\u3092\u6301\u3064\u983b\u5ea6\u304c\u9ad8\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u884c\u52d5\u7279\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u3001\u4e0d\u5b89\u969c\u5bb3\u3001\u885d\u52d5\u6027\u3001\u5f37\u8feb\u7684\u884c\u52d5\u3001\u653b\u6483\u7684\u884c\u52d5\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u611f\u60c5\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u82e6\u624b\u3067\u3001\u304b\u3093\u3057\u3083\u304f\u3092\u8d77\u3053\u3057\u3084\u3059\u3044\uff08\u6613\u523a\u6fc0\u6027\uff09\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u795e\u7d4c\u5b66\u7684\u75c7\u72b6\uff08\u3066\u3093\u304b\u3093\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\uff08Epilepsy\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75be\u60a3\u306e\u91cd\u8981\u306a\u7279\u5fb4\u306e\u4e00\u3064\u3067\u3059\u3002\u60a3\u8005\u3055\u3093\u306e<strong>\u7d0420\u301c30%<\/strong>\uff08\u5831\u544a\u306b\u3088\u3063\u3066\u306f\u305d\u308c\u4ee5\u4e0a\uff09\u306b\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u767a\u75c7\u6642\u671f\u306f\u4e73\u5e7c\u5150\u671f\u304b\u3089\u5c0f\u5150\u671f\u304c\u591a\u304f\u3001\u767a\u4f5c\u30bf\u30a4\u30d7\u306f\u6b20\u795e\u767a\u4f5c\u3084\u5168\u822c\u5f37\u76f4\u9593\u4ee3\u767a\u4f5c\u306a\u3069\u69d8\u3005\u3067\u3059\u3002\u591a\u304f\u306f\u6297\u3066\u3093\u304b\u3093\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u53ef\u80fd\u3067\u3059\u304c\u3001\u96e3\u6cbb\u6027\u3068\u306a\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u9854\u8c8c<\/strong><\/p>\n\n\n\n<p>\u300c17q12\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u306e\u3088\u3046\u306a\u7cd6\u5c3f\u75c5\u3084\u91cd\u7be4\u306a\u814e\u81d3\u75c5\u306f\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u3067\u306f\u7a00\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9854\u8c8c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7279\u7570\u7684\u306a\u9854\u8c8c\uff08Dysmorphism\uff09\u306f\u76ee\u7acb\u305f\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u3088\u304f\u89b3\u5bdf\u3059\u308b\u3068\u300c\u5e73\u5766\u306a\u7709\u6bdb\u300d\u300c\u6df1\u3044\u773c\u7aa9\uff08\u76ee\u304c\u5965\u307e\u3063\u3066\u3044\u308b\uff09\u300d\u300c\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u300d\u300c\u4f4e\u3044\u9f3b\u6839\u300d\u306a\u3069\u306e\u5fae\u7d30\u306a\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u814e\u81d3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u306f\u5fc5\u767a\u306b\u8fd1\u3044\u814e\u56a2\u80de\u3067\u3059\u304c\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u3067\u306f\u814e\u5947\u5f62\u306e\u5408\u4f75\u7387\u306f\u4f4e\u3044\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u7a00\u306b\u814e\u81d3\u306e\u5f62\u614b\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8996\u899a\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u659c\u8996\u3001\u5f31\u8996\u3001\u76ae\u8cea\u8996\u899a\u969c\u5bb3\uff08CVI\uff09\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u98df\u9053\u9589\u9396\u3084\u56a5\u4e0b\u969c\u5bb3\u3001\u4f4e\u8eab\u9577\u3001\u95a2\u7bc0\u306e\u904e\u4f38\u5c55\u306a\u3069\u304c\u7a00\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>17\u756a\u67d3\u8272\u4f53\u9577\u8155\uff0817q12\uff09\u306b\u304a\u3051\u308b\u7d041.4Mb\u306e\u5fae\u7d30\u91cd\u8907<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f\uff1aNAHR\uff08\u975e\u30a2\u30ea\u30eb\u9593\u540c\u6e90\u7d44\u63db\u3048\uff09<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u3067\u306e\u91cd\u8907\u304c\u767a\u751f\u3059\u308b\u30e1\u30ab\u30cb\u30ba\u30e0\u306f\u3001\u5bfe\u306b\u306a\u308b\u75be\u60a3\u300c17q12\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u5168\u304f\u540c\u3058\u3067\u3059\u3002<\/p>\n\n\n\n<p>17q12\u9818\u57df\u306e\u4e21\u7aef\u306b\u306f\u3001DNA\u914d\u5217\u304c\u4e92\u3044\u306b\u3088\u304f\u4f3c\u305f\u300c\u53cd\u5fa9\u914d\u5217\uff08LCR\uff09\u300d\u304c\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6e1b\u6570\u5206\u88c2\u306e\u969b\u3001\u3053\u306e\u4f3c\u305f\u914d\u5217\u540c\u58eb\u304c\u8aa4\u3063\u3066\u30da\u30a2\u3092\u7d44\u307f\u3001\u67d3\u8272\u4f53\u306e\u7d44\u63db\u3048\uff08\u60c5\u5831\u306e\u4ea4\u63db\uff09\u304c\u8d77\u3053\u308b\u3068\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7d50\u679c\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7247\u65b9\u306e\u67d3\u8272\u4f53\uff1a\u9818\u57df\u304c\u629c\u3051\u843d\u3061\u308b \u2192 <strong>\u6b20\u5931\uff0817q12\u6b20\u5931\u75c7\u5019\u7fa4\uff1a\u7cd6\u5c3f\u75c5\u30fb\u814e\u56a2\u80de\uff09<\/strong><\/li>\n\n\n\n<li>\u3082\u3046\u7247\u65b9\u306e\u67d3\u8272\u4f53\uff1a\u9818\u57df\u304c\u500d\u306b\u306a\u308b \u2192 <strong>\u91cd\u8907\uff0817q12\u91cd\u8907\u75c7\u5019\u7fa4\uff1a\u767a\u9054\u9045\u6ede\u30fb\u3066\u3093\u304b\u3093\uff09<\/strong><\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Gene Dosage Effect\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>LHX1\u306e\u904e\u5270:<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>LHX1<\/em>\u907a\u4f1d\u5b50\u306f\u8133\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u308c\u304c\u904e\u5270\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u8133\u306e\u795e\u7d4c\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u306e\u5fae\u7d30\u306a\u5f62\u6210\u7570\u5e38\u304c\u751f\u3058\u3001\u3066\u3093\u304b\u3093\u3084ASD\u3001\u5b66\u7fd2\u969c\u5bb3\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>HNF1B\u306e\u904e\u5270:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u306e\u5834\u5408\u306f\u7cd6\u5c3f\u75c5\u306b\u306a\u308a\u307e\u3059\u304c\u3001\u91cd\u8907\uff08\u904e\u5270\uff09\u306e\u5834\u5408\u306f\u901a\u5e38\u3001\u7cd6\u5c3f\u75c5\u306b\u306f\u306a\u308a\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u814e\u81d3\u306e\u767a\u9054\u306a\u3069\u306b\u304a\u3044\u3066\u5fae\u5999\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u306f\u5426\u5b9a\u3067\u304d\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u907a\u4f1d\u5f62\u5f0f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d:<\/strong> \u89aa\u304c\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u5b50\u306b\u907a\u4f1d\u3059\u308b\u78ba\u7387\u306f50%\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09:<\/strong> \u591a\u304f\u306e\u75c7\u4f8b\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u7a81\u7136\u5909\u7570\u3067\u767a\u751f\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u4e0d\u5b8c\u5168\u6d78\u900f\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75be\u60a3\u306e\u6700\u5927\u306e\u7279\u5fb4\u306e\u4e00\u3064\u306f\u3001**\u300c\u4e0d\u5b8c\u5168\u6d78\u900f\uff08Incomplete Penetrance\uff09\u300d**\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u5168\u304f\u7121\u75c7\u72b6\uff08\u3042\u308b\u3044\u306f\u8efd\u5fae\u306a\u5b66\u7fd2\u56f0\u96e3\u7a0b\u5ea6\uff09\u3067\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u30b1\u30fc\u30b9\u304c\u975e\u5e38\u306b\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u300c\u89aa\u306f\u7121\u75c7\u72b6\u3060\u304c\u3001\u5b50\u306f\u767a\u9054\u9045\u6ede\u304c\u3042\u308b\u300d\u3068\u3044\u3046\u73fe\u8c61\u304c\u8d77\u3053\u308b\u305f\u3081\u3001\u8a3a\u65ad\u6642\u306b\u306f\u4e21\u89aa\u306e\u691c\u67fb\u3082\u542b\u3081\u305f\u614e\u91cd\u306a\u89e3\u91c8\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u304c\u5c11\u306a\u3044\u305f\u3081\u3001\u81e8\u5e8a\u75c7\u72b6\uff08\u898b\u305f\u76ee\uff09\u3060\u3051\u3067\u8a3a\u65ad\u3059\u308b\u3053\u3068\u306f\u56f0\u96e3\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u73fe\u5728\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3067\u3059\u300217q12\u9818\u57df\u306e\u30b3\u30d4\u30fc\u6570\u304c\u300c3\u300d\u306b\u306a\u3063\u3066\u3044\u308b\u3053\u3068\u3092\u78ba\u8a8d\u3057\u3001\u78ba\u5b9a\u8a3a\u65ad\u3068\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\u30d1\u30cd\u30eb\u691c\u67fb\u306a\u3069:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u539f\u56e0\u4e0d\u660e\u306e\u3066\u3093\u304b\u3093\u3084\u767a\u9054\u969c\u5bb3\u3068\u3057\u3066\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u3092\u53d7\u3051\u305f\u969b\u306b\u3001\u5076\u767a\u7684\u306b\u3053\u306eCNV\uff08\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff09\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\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>\u67d3\u8272\u4f53\u306e\u91cd\u8907\u3092\u6cbb\u3059\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u304a\u5b50\u3055\u3093\u306e\u56f0\u308a\u3054\u3068\u306b\u5408\u308f\u305b\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u7642\u80b2\u7684\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u767a\u9054\u30fb\u6559\u80b2\u7684\u652f\u63f4\uff08\u7642\u80b2\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u4ecb\u5165:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u306e\u9045\u308c\u304c\u6c17\u306b\u306a\u3063\u305f\u6642\u70b9\u304b\u3089\u3001\u7642\u80b2\uff08Early Intervention\uff09\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002\u8996\u899a\u7684\u306a\u624b\u304c\u304b\u308a\u3084AAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09\u306e\u6d3b\u7528\u3082\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e0d\u5668\u7528\u3055\u3084\u611f\u899a\u904e\u654f\u304c\u3042\u308b\u5834\u5408\u3001\u751f\u6d3b\u52d5\u4f5c\u306e\u7df4\u7fd2\u3084\u611f\u899a\u7d71\u5408\u7642\u6cd5\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6559\u80b2\u74b0\u5883:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u306e\u6709\u7121\u3084\u7a0b\u5ea6\u3001\u5b66\u7fd2\u969c\u5bb3\u306e\u7279\u6027\u306b\u5408\u308f\u305b\u3001\u901a\u7d1a\u6307\u5c0e\u6559\u5ba4\u3084\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u306e\u5229\u7528\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8996\u899a\u512a\u4f4d\uff08\u898b\u3066\u7406\u89e3\u3059\u308b\u306e\u304c\u5f97\u610f\uff09\u306a\u5834\u5408\u304c\u591a\u3044\u305f\u3081\u3001\u5b66\u6821\u751f\u6d3b\u3067\u306f\u8996\u899a\u7684\u652f\u63f4\u3092\u53d6\u308a\u5165\u308c\u308b\u3068\u30b9\u30e0\u30fc\u30ba\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u533b\u5b66\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\u306e\u6cbb\u7642:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u3001\u8133\u6ce2\u691c\u67fb\u306b\u57fa\u3065\u3044\u3066\u9069\u5207\u306a\u6297\u3066\u3093\u304b\u3093\u85ac\u3092\u4f7f\u7528\u3057\u307e\u3059\u3002\u5b9a\u671f\u7684\u306a\u8133\u6ce2\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u79d1\u7684\u30b1\u30a2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>ASD\u306b\u4f34\u3046\u884c\u52d5\u554f\u984c\u3084\u3001\u4e0d\u5b89\u3001\u885d\u52d5\u6027\u304c\u5f37\u3044\u5834\u5408\u306f\u3001\u74b0\u5883\u8abf\u6574\u3084\u85ac\u7269\u7642\u6cd5\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u691c\u8a3a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8996\u529b\u691c\u67fb\uff1a\u659c\u8996\u3084\u8996\u529b\u969c\u5bb3\u306e\u65e9\u671f\u767a\u898b\u306b\u52aa\u3081\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u814e\u81d3\uff1a\u6b20\u5931\u75c7\u5019\u7fa4\u307b\u3069\u30ea\u30b9\u30af\u306f\u9ad8\u304f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u5ff5\u306e\u305f\u3081\u8a3a\u65ad\u6642\u306b\u814e\u81d3\u8d85\u97f3\u6ce2\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b6f\u79d1\uff1a\u6b6f\u4e26\u3073\u306e\u554f\u984c\u306a\u3069\u304c\u3042\u308c\u3070\u6b6f\u79d1\u77ef\u6b63\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u672c\u75be\u60a3\u306f\u300c\u89aa\u304b\u3089\u907a\u4f1d\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u300d\u3068\u300c\u907a\u4f1d\u3057\u3066\u3082\u75c7\u72b6\u304c\u51fa\u308b\u3068\u306f\u9650\u3089\u306a\u3044\uff08\u4e0d\u5b8c\u5168\u6d78\u900f\uff09\u300d\u3068\u3044\u3046\u8907\u96d1\u306a\u6027\u8cea\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u5fa1\u3055\u3093\u304c\u300c\u81ea\u5206\u306e\u305b\u3044\u3067\u300d\u3068\u7f6a\u60aa\u611f\u3092\u611f\u3058\u306a\u3044\u3088\u3046\u3001\u307e\u305f\u6b21\u5b50\u306e\u518d\u767a\u30ea\u30b9\u30af\u3092\u6b63\u3057\u304f\u7406\u89e3\u3067\u304d\u308b\u3088\u3046\u3001\u5c02\u9580\u5bb6\uff08\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\uff09\u306b\u3088\u308b\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u91cd\u8981\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>17q12 duplication syndrome\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u5148\u5929\u6027\u306e\u4f53\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u91cd\u8907\u3092\u6301\u3064\u304a\u5b50\u3055\u3093\u306f\u3001\u8a00\u8449\u304c\u3086\u3063\u304f\u308a\u3060\u3063\u305f\u308a\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u3092\u8d77\u3053\u3057\u3084\u3059\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4e00\u65b9\u3067\u5927\u304d\u306a\u8eab\u4f53\u306e\u75c5\u6c17\u3092\u6301\u3064\u3053\u3068\u306f\u5c11\u306a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u306e\u500b\u4eba\u5dee\u304c\u975e\u5e38\u306b\u5927\u304d\u304f\u3001\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u5168\u304f\u75c7\u72b6\u304c\u306a\u3044\u4eba\u3082\u3044\u308c\u3070\u3001\u652f\u63f4\u3092\u5fc5\u8981\u3068\u3059\u308b\u4eba\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u5f8c\u306f\u3001\u305d\u306e\u5b50\u81ea\u8eab\u306e\u300c\u5f97\u610f\u306a\u3053\u3068\u300d\u3068\u300c\u82e6\u624b\u306a\u3053\u3068\u300d\u3092\u4e01\u5be7\u306b\u898b\u6975\u3081\u3001\u65e9\u671f\u304b\u3089\u7642\u80b2\u3084\u6559\u80b2\u7684\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3046\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u3060\u3051\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u533b\u7642\u3001\u6559\u80b2\u3001\u798f\u7949\u306e\u5c02\u9580\u5bb6\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u6210\u9577\u3092\u9577\u3044\u76ee\u3067\u898b\u5b88\u3063\u3066\u3044\u304f\u3053\u3068\u304c\u3001\u8c4a\u304b\u306a\u751f\u6d3b\u306b\u3064\u306a\u304c\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>Mefford, H.C., et al.<\/strong> (2007). <em>Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.<\/em> American Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b17q12\u9818\u57df\u306e\u6b20\u5931\u3068\u91cd\u8907\u3092\u6bd4\u8f03\u3057\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u3066\u3093\u304b\u3093\u3084\u77e5\u7684\u969c\u5bb3\u304c\u4e3b\u8981\u306a\u7279\u5fb4\u3067\u3042\u308b\u3053\u3068\u3092\u5831\u544a\u3057\u305f\u3001\u672c\u75be\u60a3\u306e\u6982\u5ff5\u3092\u78ba\u7acb\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Nagamani, S.C., et al.<\/strong> (2010). <em>Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.<\/em> European Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u6b20\u5931\u3068\u91cd\u8907\u306e\u81e8\u5e8a\u50cf\u3092\u8a73\u7d30\u306b\u6bd4\u8f03\u691c\u8a0e\u3057\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u8868\u73fe\u578b\u306e\u591a\u69d8\u6027\u306b\u3064\u3044\u3066\u8a18\u8ff0\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Hardies, K., et al.<\/strong> (2013). <em>17q12 recurrent deletions and duplications in patients with idiopathic epilepsies.<\/em> Seizure.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u7279\u767a\u6027\u3066\u3093\u304b\u3093\u60a3\u8005\u306b\u304a\u3051\u308b17q12\u91cd\u8907\u306e\u983b\u5ea6\u3092\u8abf\u67fb\u3057\u3001\u3066\u3093\u304b\u3093\u3068\u306e\u5f37\u3044\u95a2\u9023\u3092\u793a\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Mitchell, E., et al.<\/strong> (2015). <em>Recurrent duplications of 17q12 associated with variable phenotypes.<\/em> American Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u75c7\u72b6\u306e\u591a\u69d8\u6027\uff08\u53ef\u5909\u8868\u73fe\u6027\uff09\u3068\u4e0d\u5b8c\u5168\u6d78\u900f\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u5831\u544a\u3057\u305f\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>LHX1<\/em> (Triplosensitivity score: 2 &#8211; Emerging evidence), <em>HNF1B<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203bLHX1\u306a\u3069\u306e\u907a\u4f1d\u5b50\u304c\u91cd\u8907\u3059\u308b\u3053\u3068\u306b\u3088\u308b\u5f71\u97ff\u5ea6\u3092\u8a55\u4fa1\u3057\u305f\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>17q12 microduplications<\/em> (2018).\n<ul class=\"wp-block-list\">\n<li>(\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306e\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002\u751f\u6d3b\u4e0a\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u3084\u75c7\u72b6\u306e\u8a73\u7d30\u304c\u7db2\u7f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002)<\/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-16742","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\/16742","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\/16742\/revisions"}],"predecessor-version":[{"id":16744,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16742\/revisions\/16744"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16742"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}