{"id":16729,"date":"2026-01-20T01:04:05","date_gmt":"2026-01-20T01:04:05","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16729"},"modified":"2026-01-20T05:49:27","modified_gmt":"2026-01-20T05:49:27","slug":"17p13-3-telomeric-duplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/17p13-3-telomeric-duplication-syndrome\/","title":{"rendered":"17p13.3 telomeric 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>17p13.3\u30c6\u30ed\u30e1\u30a2\u5074\u91cd\u8907\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>17p13.3\u9060\u4f4d\u91cd\u8907\u75c7\u5019\u7fa4\uff08Distal 17p13.3 microduplication syndrome\uff09<\/li>\n\n\n\n<li>YWHAE\u91cd\u8907\u75c7\u5019\u7fa4\uff08YWHAE duplication syndrome\uff09<\/li>\n\n\n\n<li>17p13.3\u5fae\u7d30\u91cd\u8907\u75c7\u5019\u7fa4 \u30af\u30e9\u30b91\uff0817p13.3 microduplication syndrome, Class 1\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a17p13.3 duplication syndrome\uff08\u5e83\u7fa9\u306e\u540d\u79f0\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u7528\u8a9e\u306e\u89e3\u8aac\uff1a<\/p>\n\n\n\n<p>\u300cTelomeric\uff08\u30c6\u30ed\u30e1\u30a2\u5074\uff09\u300d\u3068\u306f\u3001\u67d3\u8272\u4f53\u306e\u300c\u672b\u7aef\u300d\u3092\u610f\u5473\u3057\u307e\u3059\u300217p13.3\u9818\u57df\u306e\u4e2d\u3067\u3082\u3001\u3088\u308a\u5148\u7aef\u306b\u8fd1\u3044\u90e8\u5206\u306e\u307f\u304c\u91cd\u8907\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u793a\u3057\u3066\u304a\u308a\u3001\u533b\u5b66\u7684\u306b\u306f\u300cYWHAE\u91cd\u8907\u75c7\u5019\u7fa4\u300d\u3068\u540c\u7fa9\u3068\u3057\u3066\u6271\u308f\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\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>17\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0913.3\u9818\u57df\u306e\u672b\u7aef\uff08Telomeric \/ Distal\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\u306e\u6700\u3082\u5148\u7aef\u306b\u3042\u308b\u300c13.3\u300d\u9818\u57df\u306e\u3046\u3061\u3001\u3055\u3089\u306b\u672b\u7aef\u5074\u306eDNA\u914d\u5217\u304c\u91cd\u8907\uff08\u30b3\u30d4\u30fc\u6570\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\u300c\u30af\u30e9\u30b91\u300d\u306e\u5b9a\u7fa9\u3011<\/p>\n\n\n\n<p>17p13.3\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001\u91cd\u8907\u3059\u308b\u7bc4\u56f2\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u9055\u3044\u306b\u3088\u3063\u3066\u3001\u75c7\u72b6\u304c\u5168\u304f\u7570\u306a\u308b2\u3064\u306e\u30bf\u30a4\u30d7\u306b\u5206\u985e\u3055\u308c\u307e\u3059\uff08Bi et al., 2009\u306b\u3088\u308b\u5206\u985e\uff09\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30af\u30e9\u30b91\uff08\u672c\u75be\u60a3\uff1aTelomeric \/ Distal\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>YWHAE\u907a\u4f1d\u5b50\u3092\u542b\u307f\u3001PAFAH1B1 (LIS1) \u907a\u4f1d\u5b50\u3092\u542b\u307e\u306a\u3044<\/strong>\u91cd\u8907\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u4eca\u56de\u89e3\u8aac\u3059\u308b\u300c17p13.3 telomeric duplication syndrome\u300d\u306f\u3053\u308c\u306b\u8a72\u5f53\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30af\u30e9\u30b92\uff08Centromeric \/ Proximal\uff09:<\/strong><\/li>\n<\/ul>\n\n\n\n<p><em>PAFAH1B1 (LIS1)<\/em> \u907a\u4f1d\u5b50\u3092\u542b\u307f\u3001<em>YWHAE<\/em>\u907a\u4f1d\u5b50\u3092\u542b\u307e\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u4e21\u65b9\u3092\u542b\u3080\u91cd\u8907\u3067\u3059\u3002\u3053\u3061\u3089\u306f\u5c0f\u982d\u75c7\u3084\u6210\u9577\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u8cac\u4efb\u907a\u4f1d\u5b50\uff1aYWHAE\u3011<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306e\u75c7\u72b6\u5f62\u6210\u306b\u304a\u3044\u3066\u4e2d\u5fc3\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u306e\u304cYWHAE\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><em>YWHAE<\/em>\uff08Tyrosine 3-Monooxygenase\/Tryptophan 5-Monooxygenase Activation Protein Epsilon\uff09\u306f\u3001\u8133\u306e\u767a\u9054\u306b\u304a\u3044\u3066\u795e\u7d4c\u7d30\u80de\uff08\u30cb\u30e5\u30fc\u30ed\u30f3\uff09\u304c\u6b63\u3057\u3044\u5834\u6240\u306b\u79fb\u52d5\uff08\u904a\u8d70\uff09\u3059\u308b\u305f\u3081\u306b\u5fc5\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u304c\u904e\u5270\u306b\u306a\u308b\uff083\u30b3\u30d4\u30fc\u306b\u306a\u308b\uff09\u3068\u3001\u795e\u7d4c\u7d30\u80de\u306e\u79fb\u52d5\u30d1\u30bf\u30fc\u30f3\u306b\u7570\u5e38\u304c\u751f\u3058\u3001\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u3084\u8a8d\u77e5\u6a5f\u80fd\u306e\u969c\u5bb3\u3001\u305d\u3057\u3066\u8eab\u4f53\u7684\u306a\u904e\u6210\u9577\uff08\u4f53\u304c\u5927\u304d\u304f\u306a\u308b\uff09\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u9818\u57df\u5185\u306b\u306f<em>CRK<\/em>\uff08\u6210\u9577\u56e0\u5b50\u30b7\u30b0\u30ca\u30eb\u306b\u95a2\u4e0e\uff09\u306a\u3069\u306e\u907a\u4f1d\u5b50\u3082\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u304c\u904e\u6210\u9577\u306b\u5bc4\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u3082\u7814\u7a76\u3055\u308c\u3066\u3044\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>\u7a00\uff08Rare\uff09<\/strong><\/p>\n\n\n\n<p>17p13.3\u9818\u57df\u5168\u4f53\u306e\u91cd\u8907\u306e\u983b\u5ea6\u306f\u3001\u6570\u4e07\u4eba\u301c10\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u305d\u306e\u3046\u3061\u300cTelomeric\uff08YWHAE\u5358\u72ec\uff09\u300d\u306e\u30bf\u30a4\u30d7\u304c\u3069\u306e\u7a0b\u5ea6\u306e\u5272\u5408\u3092\u5360\u3081\u308b\u304b\u306f\u3001\u6b63\u78ba\u306a\u7d71\u8a08\u304c\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u8fd1\u5e74\u306e\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u300c\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u300d\u3084\u300c\u767a\u9054\u9045\u6ede\u300d\u3068\u8a3a\u65ad\u3055\u308c\u3066\u3044\u305f\u60a3\u8005\u3055\u3093\u306e\u4e2d\u304b\u3089\u3001\u3053\u306e\u91cd\u8907\u304c\u898b\u3064\u304b\u308b\u30b1\u30fc\u30b9\u304c\u5897\u52a0\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u304c\u8eab\u4f53\u7684\u306b\u76ee\u7acb\u3061\u306b\u304f\u3044\uff08\u5927\u5947\u5f62\u304c\u5c11\u306a\u3044\uff09\u305f\u3081\u3001\u8a3a\u65ad\u306b\u81f3\u3063\u3066\u3044\u306a\u3044\u6f5c\u5728\u7684\u306a\u60a3\u8005\u6570\u306f\u3001\u5f93\u6765\u306e\u5831\u544a\u3088\u308a\u3082\u591a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\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>17p13.3 telomeric duplication syndrome\u306e\u81e8\u5e8a\u50cf\u306f\u3001\u300c\u904e\u6210\u9577\uff08\u4f53\u304c\u5927\u304d\u3044\uff09\u300d\u3001\u300c\u81ea\u9589\u75c7\u7279\u6027\u300d\u3001\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u306e3\u3064\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u540c\u305817p13.3\u91cd\u8907\u3067\u3082\u3001PAFAH1B1\u3092\u542b\u3080\u30bf\u30a4\u30d7\u304c\u300c\u5c0f\u67c4\u3067\u5c0f\u982d\u75c7\u300d\u306b\u306a\u308b\u306e\u3068\u306f\u5bfe\u7167\u7684\u306b\u3001\u672c\u75be\u60a3\u3067\u306f\u300c\u5927\u67c4\u3067\u5927\u982d\u75c7\u50be\u5411\u300d\u306b\u306a\u308b\u3053\u3068\u304c\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u6210\u9577\uff08Overgrowth\uff09<\/strong><\/p>\n\n\n\n<p>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306b\u304a\u3044\u3066\u3001\u51fa\u751f\u5f8c\u304b\u3089\u8eab\u4f53\u306e\u767a\u80b2\u304c\u826f\u3044\u3001\u3042\u308b\u3044\u306f\u5e73\u5747\u3088\u308a\u3082\u5927\u304d\u3044\u50be\u5411\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u904e\u6210\u9577\uff08Macrosomia\uff09:<\/strong> \u8eab\u9577\u3084\u4f53\u91cd\u304c\u6210\u9577\u66f2\u7dda\u306e\u4e0a\u9650\u306b\u8fd1\u3044\u3001\u3042\u308b\u3044\u306f\u8d85\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u76f8\u5bfe\u7684\u5927\u982d\u75c7\uff08Macrocephaly\uff09:<\/strong> \u982d\u56f2\u304c\u5927\u304d\u3081\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c:<\/strong> \u624b\u6307\u306e\u7570\u5e38\uff08\u9577\u3044\u6307\u306a\u3069\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u91cd\u7be4\u306a\u9aa8\u683c\u5947\u5f62\u306f\u5c11\u306a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u795e\u7d4c\u767a\u9054\u3078\u306e\u5f71\u97ff\u306f\u307b\u307c\u5fc5\u767a\u3067\u3059\u304c\u3001\u305d\u306e\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\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><strong>\u904b\u52d5:<\/strong> \u6b69\u884c\u958b\u59cb\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u304c\u9045\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09\u304c\u80cc\u666f\u306b\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e:<\/strong> \u8a00\u8449\u306e\u9045\u308c\uff08Speech delay\uff09\u304c\u9855\u8457\u3067\u3059\u3002\u7279\u306b\u8868\u51fa\u8a00\u8a9e\uff08\u8a71\u3059\u3053\u3068\uff09\u304c\u82e6\u624b\u3067\u3001\u69cb\u97f3\u969c\u5bb3\uff08\u767a\u97f3\u304c\u306f\u3063\u304d\u308a\u3057\u306a\u3044\uff09\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\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\u306e\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u306f\u3001<em>PAFAH1B1<\/em>\u3092\u542b\u3080\u91cd\u8907\u306b\u6bd4\u3079\u3066\u5c11\u306a\u3044\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7279\u6027\uff08\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306b\u304a\u3044\u3066\u3001\u3054\u5bb6\u65cf\u304c\u6700\u3082\u76f4\u9762\u3059\u308b\u8ab2\u984c\u306e\u4e00\u3064\u304c\u884c\u52d5\u9762\u306e\u7279\u5fb4\u3067\u3059\u3002<em>YWHAE<\/em>\u907a\u4f1d\u5b50\u306e\u91cd\u8907\u306f\u3001ASD\u306e\u5f37\u529b\u306a\u30ea\u30b9\u30af\u56e0\u5b50\u3068\u3057\u3066\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/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>\u60a3\u8005\u3055\u3093\u306e\u591a\u304f\u304cASD\u306e\u8a3a\u65ad\u57fa\u6e96\u3092\u6e80\u305f\u3059\u304b\u3001\u305d\u306e\u50be\u5411\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u793e\u4f1a\u7684\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u56f0\u96e3\uff08\u8996\u7dda\u304c\u5408\u308f\u306a\u3044\u3001\u53cb\u9054\u3068\u306e\u95a2\u308f\u308a\u304c\u82e6\u624b\uff09\u3002<\/li>\n\n\n\n<li>\u53cd\u5fa9\u884c\u52d5\u3001\u5e38\u540c\u884c\u52d5\uff08\u624b\u3092\u3072\u3089\u3072\u3089\u3055\u305b\u308b\u3001\u304f\u308b\u304f\u308b\u56de\u308b\u306a\u3069\uff09\u3002<\/li>\n\n\n\n<li>\u5f37\u3044\u3053\u3060\u308f\u308a\u3001\u611f\u899a\u904e\u654f\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>\u591a\u52d5\u3001\u6ce8\u610f\u6b20\u9665\uff08ADHD\u69d8\u75c7\u72b6\uff09\u3002<\/li>\n\n\n\n<li>\u4e0d\u5b89\u969c\u5bb3\u3001\u6613\u523a\u6fc0\u6027\uff08\u30a4\u30e9\u30a4\u30e9\u3057\u3084\u3059\u3044\uff09\u3001\u304b\u3093\u3057\u3083\u304f\u3002<\/li>\n\n\n\n<li>\u653b\u6483\u7684\u884c\u52d5\u3084\u81ea\u50b7\u884c\u52d5\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u74b0\u5883\u8abf\u6574\u3084\u884c\u52d5\u7642\u6cd5\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u9854\u3064\u304d\u306b\u306f\u5171\u901a\u3057\u305f\u7279\u5fb4\uff08Dysmorphism\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u305d\u308c\u3089\u306f\u300c\u5fae\u7d30\u300d\u306a\u3082\u306e\u3067\u3042\u308a\u3001\u4e00\u898b\u3057\u3066\u8a3a\u65ad\u3067\u304d\u308b\u307b\u3069\u7279\u7570\u7684\u3067\u306f\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u524d\u982d\u90e8\u7a81\u51fa:<\/strong> \u304a\u3067\u3053\u304c\u5e83\u304f\u3001\u524d\u306b\u51fa\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u773c\u9593\u958b\u96e2:<\/strong> \u4e21\u76ee\u306e\u9593\u9694\u304c\u96e2\u308c\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u9f3b\u306e\u7279\u5fb4:<\/strong> \u9f3b\u6839\u90e8\uff08\u76ee\u3068\u76ee\u306e\u9593\uff09\u304c\u4f4e\u304f\u5e73\u5766\u3002<\/li>\n\n\n\n<li><strong>\u984e\u306e\u7279\u5fb4:<\/strong> \u984e\u304c\u5c0f\u3055\u3044\u3001\u3042\u308b\u3044\u306f\u5c16\u3063\u305f\u984e\uff08Pointed chin\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8033:<\/strong> \u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u306e\u5f62\u304c\u7279\u5fb4\u7684\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<p>\u5185\u81d3\u306e\u5927\u5947\u5f62\u3092\u4f34\u3046\u3053\u3068\u306f\u6bd4\u8f03\u7684\u7a00\u3067\u3059\u304c\u3001\u4ee5\u4e0b\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8133MRI\u6240\u898b:<\/strong> \u8133\u6881\u306e\u83f2\u8584\u5316\uff08\u8584\u3044\uff09\u3001\u5c0f\u8133\u306e\u7570\u5e38\u3001\u30ad\u30a2\u30ea\u5947\u5f62\u30bf\u30a4\u30d71\u306a\u3069\u304c\u7a00\u306b\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u6b63\u5e38\u7bc4\u56f2\u3067\u3042\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong> \u4e00\u90e8\u306e\u60a3\u8005\u3055\u3093\u3067\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u305d\u306e\u4ed6:<\/strong> \u659c\u8996\u3001\u5c48\u6298\u7570\u5e38\u3001\u8efd\u5ea6\u306e\u6442\u98df\u969c\u5bb3\u306a\u3069\u3002<\/p>\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\u77ed\u8155\u672b\u7aef\uff0817p13.3 telomeric\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u91cd\u8907<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u907a\u4f1d\u5b50\u578b\u3068\u8868\u73fe\u578b\u306e\u76f8\u95a2\uff08\u306a\u305c\u75c7\u72b6\u304c\u51fa\u308b\u306e\u304b\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306e\u75c7\u72b6\u306f\u3001\u4e3b\u306bYWHAE\u907a\u4f1d\u5b50\u306e\u7528\u91cf\u52b9\u679c\uff08Gene Dosage Effect\uff09\u306b\u3088\u3063\u3066\u8aac\u660e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b63\u5e38\u306a\u8133\u767a\u9054:<\/strong> \u795e\u7d4c\u7d30\u80de\u306f\u80ce\u5150\u671f\u306b\u8133\u306e\u6df1\u90e8\u3067\u751f\u307e\u308c\u3001\u8868\u9762\uff08\u76ae\u8cea\uff09\u306b\u5411\u304b\u3063\u3066\u79fb\u52d5\u3057\u307e\u3059\u3002\u3053\u306e\u79fb\u52d5\u306b\u306f\u300114-3-3\u03b5\u30bf\u30f3\u30d1\u30af\u8cea\uff08<em>YWHAE<\/em>\u7523\u7269\uff09\u3068LIS1\u30bf\u30f3\u30d1\u30af\u8cea\uff08<em>PAFAH1B1<\/em>\u7523\u7269\uff09\u304c\u7d50\u5408\u3057\u3066\u50cd\u304f\u3053\u3068\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u8907\u306b\u3088\u308b\u30d0\u30e9\u30f3\u30b9\u5d29\u58ca:<\/strong> <em>YWHAE<\/em>\u3060\u3051\u304c\u5897\u3048\u3066<em>PAFAH1B1<\/em>\u304c\u6b63\u5e38\u306a\u307e\u307e\u3060\u3068\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7d50\u5408\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u795e\u7d4c\u7d30\u80de\u306e\u79fb\u52d5\u901f\u5ea6\u3084\u65b9\u5411\u304c\u5fae\u5999\u306b\u72c2\u3044\u3001\u8133\u306e\u914d\u7dda\uff08\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\uff09\u306b\u7570\u5e38\u304c\u751f\u3058\u307e\u3059\u3002\u3053\u308c\u304cASD\u3084\u77e5\u7684\u969c\u5bb3\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u904e\u6210\u9577\u306e\u539f\u56e0:<\/strong> <em>YWHAE<\/em>\u307e\u305f\u306f\u96a3\u63a5\u3059\u308b<em>CRK<\/em>\u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u306e\u5897\u6b96\u30b7\u30b0\u30ca\u30eb\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u3053\u308c\u3089\u304c\u904e\u5270\u306b\u306a\u308b\u3053\u3068\u3067\u5168\u8eab\u306e\u7d30\u80de\u5897\u6b96\u304c\u4fc3\u9032\u3055\u308c\u3001\u4f53\u304c\u5927\u304d\u304f\u306a\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5f62\u5f0f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09:<\/strong> \u591a\u304f\u306e\u30b1\u30fc\u30b9\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u907a\u4f1d\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u3053\u304c\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<strong>17p13.3 telomeric duplication\u306f\u3001\u89aa\u304b\u3089\u907a\u4f1d\u3057\u3066\u3044\u308b\u30b1\u30fc\u30b9\u304c\u6bd4\u8f03\u7684\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong><\/li>\n\n\n\n<li>\u89aa\u81ea\u8eab\u304c\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u3082\u306e\u306e\u3001\u75c7\u72b6\u304c\u8efd\u5fae\uff08\u300c\u5c11\u3057\u52c9\u5f37\u304c\u82e6\u624b\u3060\u3063\u305f\u300d\u300c\u80cc\u304c\u9ad8\u3044\u300d\u300c\u3053\u3060\u308f\u308a\u304c\u5f37\u3044\u6027\u683c\u300d\u7a0b\u5ea6\uff09\u3067\u3001\u8a3a\u65ad\u3055\u308c\u305a\u306b\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u5b50\u306b\u907a\u4f1d\u3059\u308b\u78ba\u7387\u306f50%\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>\u901a\u5e38\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u306f\u3001\u3053\u306e\u5fae\u7d30\u306a\u91cd\u8907\u3092\u691c\u51fa\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\u3002<\/li>\n\n\n\n<li>\u91cd\u8907\u306e\u6b63\u78ba\u306a\u4f4d\u7f6e\u3068\u30b5\u30a4\u30ba\u3092\u7279\u5b9a\u3057\u3001\u300cYWHAE\u907a\u4f1d\u5b50\u3092\u542b\u3093\u3067\u3044\u308b\u304b\u300d\u300cPAFAH1B1\u907a\u4f1d\u5b50\u3092\u542b\u3093\u3067\u3044\u306a\u3044\u304b\u300d\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>FISH\u6cd5:<\/strong><\/li>\n<\/ul>\n\n\n\n<p><em>YWHAE<\/em>\u9818\u57df\u306b\u7279\u7570\u7684\u306a\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u308b\u3053\u3068\u3067\u3001\u30b3\u30d4\u30fc\u6570\u306e\u5897\u52a0\u3092\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306e\u4e2d\u5fc3\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u7642\u80b2\u7684\u652f\u63f4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u3067\u306f\u8eab\u4f53\u7684\u306a\u5927\u5947\u5f62\u304c\u5c11\u306a\u3044\u305f\u3081\u3001\u533b\u7642\u7684\u30b1\u30a2\u3088\u308a\u3082\u300c\u767a\u9054\u30fb\u884c\u52d5\u652f\u63f4\u300d\u304c\u30e1\u30a4\u30f3\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u30fb\u884c\u52d5\u652f\u63f4\uff08\u7642\u80b2\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2:<\/strong> \u8a3a\u65ad\u5f8c\u3001\u65e9\u671f\u304b\u3089\u7642\u80b2\uff08Early Intervention\uff09\u3092\u958b\u59cb\u3059\u308b\u3053\u3068\u304c\u3001\u4e8c\u6b21\u7684\u306a\u884c\u52d5\u554f\u984c\u3092\u9632\u3050\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fdc\u7528\u884c\u52d5\u5206\u6790\uff08ABA\uff09:<\/strong> ASD\u7279\u6027\uff08\u3053\u3060\u308f\u308a\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u56f0\u96e3\uff09\u306b\u5bfe\u3057\u3001ABA\u306a\u3069\u306e\u884c\u52d5\u7642\u6cd5\u304c\u6709\u52b9\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<\/strong> \u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u7d75\u30ab\u30fc\u30c9\u3084AAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09\u3092\u6d3b\u7528\u3057\u3001\u610f\u601d\u4f1d\u9054\u306e\u624b\u6bb5\u3092\u78ba\u7acb\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u611f\u899a\u904e\u654f\u304c\u3042\u308b\u5834\u5408\u3001\u611f\u899a\u7d71\u5408\u7642\u6cd5\u3092\u884c\u3044\u3001\u65e5\u5e38\u751f\u6d3b\u306e\u30b9\u30c8\u30ec\u30b9\u3092\u8efd\u6e1b\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30bd\u30fc\u30b7\u30e3\u30eb\u30b9\u30ad\u30eb\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\uff08SST\uff09:<\/strong> \u5b66\u9f62\u671f\u4ee5\u964d\u3001\u96c6\u56e3\u751f\u6d3b\u3067\u306e\u5bfe\u4eba\u30b9\u30ad\u30eb\u3092\u5b66\u3073\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6559\u80b2\u74b0\u5883\u306e\u8abf\u6574<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u3084ASD\u7279\u6027\u306b\u5408\u308f\u305b\u3001\u901a\u7d1a\u6307\u5c0e\u6559\u5ba4\u3001\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u3001\u7279\u5225\u652f\u63f4\u5b66\u6821\u306a\u3069\u3001\u500b\u5225\u306b\u9069\u3057\u305f\u6559\u80b2\u74b0\u5883\u3092\u9078\u629e\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\u8996\u899a\u7684\u306a\u6307\u793a\u3092\u53d6\u308a\u5165\u308c\u308b\u306a\u3069\u306e\u5de5\u592b\u304c\u5b66\u7fd2\u3092\u52a9\u3051\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u533b\u5b66\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b9a\u671f\u691c\u8a3a:<\/strong> \u767a\u80b2\uff08\u904e\u6210\u9577\u306e\u8a55\u4fa1\uff09\u3001\u8996\u529b\u30fb\u8074\u529b\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u5b66\u7684\u7ba1\u7406:<\/strong> \u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u8133\u6ce2\u691c\u67fb\u3092\u884c\u3044\u3001\u6cbb\u7642\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u79d1\u7684\u30b1\u30a2:<\/strong> \u601d\u6625\u671f\u4ee5\u964d\u3001\u4e0d\u5b89\u3084\u884c\u52d5\u306e\u554f\u984c\u304c\u5f37\u307e\u308b\u5834\u5408\u306f\u3001\u85ac\u7269\u7642\u6cd5\u3092\u542b\u3081\u305f\u7cbe\u795e\u79d1\u7684\u30a2\u30d7\u30ed\u30fc\u30c1\u3092\u691c\u8a0e\u3057\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>\u672c\u75be\u60a3\u306f\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u5426\u5b9a\u3067\u304d\u306a\u3044\u305f\u3081\u3001\u4e21\u89aa\u306e\u691c\u67fb\u3092\u884c\u3046\u304b\u3069\u3046\u304b\u306b\u3064\u3044\u3066\u3001\u5341\u5206\u306a\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u300c\u89aa\u3082\u6301\u3063\u3066\u3044\u308b\u300d\u3068\u5224\u660e\u3057\u305f\u5834\u5408\u3001\u305d\u308c\u306f\u300c\u89aa\u306e\u305b\u3044\u3067\u75c7\u72b6\u304c\u51fa\u305f\u300d\u306e\u3067\u306f\u306a\u304f\u3001\u300c\u89aa\u304c\u540c\u3058\u4f53\u8cea\u3092\u6301\u3061\u306a\u304c\u3089\u9069\u5fdc\u3067\u304d\u3066\u3044\u308b\u300d\u3068\u3044\u3046\u30dd\u30b8\u30c6\u30a3\u30d6\u306a\u60c5\u5831\uff08\u4e88\u5f8c\u4e88\u6e2c\u306e\u53c2\u8003\uff09\u3068\u3057\u3066\u3082\u6349\u3048\u3089\u308c\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>17p13.3 telomeric duplication syndrome\u306f\u300117\u756a\u67d3\u8272\u4f53\u672b\u7aef\u306eYWHAE\u907a\u4f1d\u5b50\u306a\u3069\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\u4f53\u304c\u5927\u304d\u304f\u5065\u3084\u304b\u306b\u80b2\u3064\u4e00\u65b9\u3067\u3001\u8a00\u8449\u306e\u9045\u308c\u3084\u81ea\u9589\u75c7\u306a\u3069\u306e\u7279\u6027\u3092\u6301\u3064\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4ed6\u306e\u67d3\u8272\u4f53\u75be\u60a3\u306b\u898b\u3089\u308c\u308b\u3088\u3046\u306a\u91cd\u3044\u5185\u81d3\u306e\u75c5\u6c17\u306f\u5c11\u306a\u3044\u305f\u3081\u3001\u547d\u306b\u95a2\u308f\u308b\u3053\u3068\u306f\u7a00\u3067\u3059\u304c\u3001\u793e\u4f1a\u7684\u306a\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3084\u3053\u3060\u308f\u308a\u306e\u5f37\u3055\u3067\u56f0\u308a\u611f\u3092\u62b1\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u8981\u306a\u306e\u306f\u3001\u305d\u306e\u5b50\u306e\u884c\u52d5\u3092\u300c\u308f\u304c\u307e\u307e\u300d\u3068\u8aa4\u89e3\u305b\u305a\u3001\u300c\u8133\u306e\u914d\u7dda\u306e\u9055\u3044\u306b\u3088\u308b\u7279\u6027\u300d\u3068\u3057\u3066\u7406\u89e3\u3059\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u65e9\u671f\u304b\u3089\u305d\u306e\u5b50\u306e\u7279\u6027\uff08\u8996\u899a\u7684\u306a\u7406\u89e3\u304c\u5f97\u610f\u3001\u306a\u3069\uff09\u306b\u5408\u308f\u305b\u305f\u7642\u80b2\u74b0\u5883\u3092\u6574\u3048\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306f\u81ea\u5206\u306a\u308a\u306e\u65b9\u6cd5\u3067\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u5b66\u3073\u3001\u793e\u4f1a\u306e\u4e2d\u3067\u6210\u9577\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u3067\u304d\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>Bi, W., et al.<\/strong> (2009). <em>17p13.3 microduplications: a critical review of the genotype-phenotype correlations.<\/em> American Journal of Medical Genetics Part A.\n<ul class=\"wp-block-list\">\n<li>(\u203b17p13.3\u91cd\u8907\u3092\u30af\u30e9\u30b91\uff08Telomeric\/YWHAE\uff09\u3068\u30af\u30e9\u30b92\uff08Centromeric\/PAFAH1B1\uff09\u306b\u5206\u985e\u3057\u3001\u672c\u75be\u60a3\u306e\u7279\u5fb4\u3067\u3042\u308b\u904e\u6210\u9577\u3084ASD\u3068\u306e\u95a2\u9023\u3092\u5b9a\u7fa9\u3065\u3051\u305f\u3001\u6700\u3082\u57fa\u672c\u7684\u304b\u3064\u91cd\u8981\u306a\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Bruno, D.L., et al.<\/strong> (2010). <em>Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications.<\/em> Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203bYWHAE\u907a\u4f1d\u5b50\u306e\u91cd\u8907\u304c\u3001\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u3084\u904e\u6210\u9577\u306e\u4e3b\u8981\u306a\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u660e\u3089\u304b\u306b\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Curry, C.J., et al.<\/strong> (2013). <em>Duplication of the LIS1 (PAFAH1B1) gene: A newly recognized cause of microcephaly and mild brain malformation?<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5bfe\u7167\u7684\u306a\u75be\u60a3\u3067\u3042\u308bLIS1\u91cd\u8907\uff08\u5c0f\u982d\u75c7\uff09\u3068\u306e\u6bd4\u8f03\u306b\u304a\u3044\u3066\u3001YWHAE\u91cd\u8907\uff08\u5927\u982d\u75c7\u30fb\u904e\u6210\u9577\uff09\u306e\u7279\u5fb4\u3092\u969b\u7acb\u305f\u305b\u3066\u3044\u308b\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Petit, F., et al.<\/strong> (2013). <em>17p13.3 microduplications involving YWHAE but not PAFAH1B1: A retrospective study of 24 patients.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bTelomeric duplication\uff08\u30af\u30e9\u30b91\uff09\u60a3\u800524\u4f8b\u306e\u8a73\u7d30\u306a\u81e8\u5e8a\u30c7\u30fc\u30bf\u3092\u307e\u3068\u3081\u3001\u9854\u8c8c\u3084\u884c\u52d5\u7279\u6027\u3092\u89e3\u6790\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>YWHAE<\/em> (Triplosensitivity score: 3 &#8211; Sufficient evidence).\n<ul class=\"wp-block-list\">\n<li>(YWHAE\u907a\u4f1d\u5b50\u304c3\u30b3\u30d4\u30fc\u306b\u306a\u308b\u3053\u3068\u3067\u75c5\u539f\u6027\uff08ASD\u3084\u904e\u6210\u9577\uff09\u3092\u6301\u3064\u3053\u3068\u3092\u88cf\u4ed8\u3051\u308b\u5c02\u9580\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u8a55\u4fa1\u3002)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>DECIPHER Database<\/strong>: <em>Genomic coordinates and phenotype data for 17p13.3 distal duplications.<\/em><\/p>\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-16729","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\/16729","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\/16729\/revisions"}],"predecessor-version":[{"id":16830,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16729\/revisions\/16830"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16729"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}