{"id":16675,"date":"2026-01-19T08:09:33","date_gmt":"2026-01-19T08:09:33","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16675"},"modified":"2026-01-20T06:03:37","modified_gmt":"2026-01-20T06:03:37","slug":"16p11-2-duplication-distal-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/16p11-2-duplication-distal-syndrome\/","title":{"rendered":"16p11.2 duplication (distal) 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>16p11.2 distal microduplication\uff0816p11.2\u9060\u4f4d\u5fae\u7d30\u91cd\u8907\uff09<\/li>\n\n\n\n<li>16p11.2 BP2-BP3 duplication\uff0816p11.2 BP2-BP3\u91cd\u8907\uff09<\/li>\n\n\n\n<li>SH2B1-containing 16p11.2 duplication\uff08SH2B1\u907a\u4f1d\u5b50\u3092\u542b\u308016p11.2\u91cd\u8907\uff09<\/li>\n\n\n\n<li>Dup16p11.2 distal<\/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>16\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0911.2\u9818\u57df\uff08Distal\uff1a\u9060\u4f4d\u90e8\uff09<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u300116\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306e\u300c11.2\u300d\u9818\u57df\u306e\u4e2d\u3067\u3082\u3001\u3088\u308a\u672b\u7aef\uff08\u30c6\u30ed\u30e1\u30a2\uff09\u5074\u306b\u4f4d\u7f6e\u3059\u308bBP2\uff08Breakpoint 2\uff09\u304b\u3089BP3\uff08Breakpoint 3\uff09\u3068\u547c\u3070\u308c\u308b\u533a\u9593\u306e\u91cd\u8907\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30b2\u30ce\u30e0\u5ea7\u6a19\u306e\u76ee\u5b89\uff08GRCh37\/hg19\uff09\uff1a<\/strong> chr16: 28,800,000 \u2013 29,050,000 \u4ed8\u8fd1<\/li>\n\n\n\n<li><strong>\u9818\u57df\u306e\u30b5\u30a4\u30ba\uff1a<\/strong> \u7d04220\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u91cd\u8981\u306a\u533a\u5225\uff1a 16p11.2\u9818\u57df\u306b\u306f\u300c\u8fd1\u4f4d\uff08Proximal \/ BP4-BP5\uff09\u300d\u3068\u300c\u9060\u4f4d\uff08Distal \/ BP2-BP3\uff09\u300d\u3068\u3044\u30462\u3064\u306e\u4e3b\u8981\u306a\u5909\u7570\u591a\u767a\u9818\u57df\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u822c\u7684\u306b\u300c16p11.2\u91cd\u8907\u300d\u3068\u8a00\u308f\u308c\u308b\u3082\u306e\u306e\u591a\u304f\u306f\u8fd1\u4f4d\uff08Proximal\uff09\u578b\u3067\u3059\u304c\u3001\u672c\u75be\u60a3\u306f\u9060\u4f4d\uff08Distal\uff09\u578b\u3067\u3042\u308a\u3001\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\uff08SH2B1\u306a\u3069\uff09\u3084\u81e8\u5e8a\u50cf\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u4e21\u8005\u306f\u8fd1\u63a5\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u7570\u306a\u308b\u75be\u60a3\u5358\u4f4d\u3068\u3057\u3066\u533a\u5225\u3055\u308c\u307e\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>\u4e00\u822c\u96c6\u56e3\u3067\u306e\u6b63\u78ba\u306a\u983b\u5ea6\u306f\u672a\u78ba\u7acb\uff08\u975e\u5e38\u306b\u7a00\uff09<\/strong><\/p>\n\n\n\n<p>Proximal\uff08\u8fd1\u4f4d\uff09\u578b\u306e\u91cd\u8907\u306b\u6bd4\u3079\u308b\u3068\u5831\u544a\u6570\u306f\u5c11\u306a\u304f\u3001\u7a00\u306a\u75be\u60a3\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u75c7\u72b6\u304c\u8efd\u5fae\u3067\u3042\u308b\u305f\u3081\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u6f5c\u5728\u7684\u306a\u4fdd\u56e0\u8005\u304c\u76f8\u5f53\u6570\u5b58\u5728\u3059\u308b\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u306e\u5927\u898f\u6a21\u306a\u907a\u4f1d\u5b50\u89e3\u6790\u7814\u7a76\uff08UK Biobank\u7b49\uff09\u3084\u81e8\u5e8a\u30b3\u30db\u30fc\u30c8\u7814\u7a76\u306b\u3088\u308a\u3001\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u3084\u767a\u9054\u9045\u6ede\u3092\u6301\u3064\u96c6\u56e3\u306e\u4e2d\u3067\u7279\u5b9a\u3055\u308c\u308b\u30b1\u30fc\u30b9\u304c\u5897\u3048\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>16p11.2\u9060\u4f4d\uff08distal\uff09\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u975e\u5e38\u306b\u5e45\u5e83\u304f\u3001\u300c\u4e0d\u5b8c\u5168\u6d78\u900f\uff08\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u75c7\u72b6\u304c\u51fa\u306a\u3044\uff09\u300d\u3068\u300c\u53ef\u5909\u8868\u73fe\u6027\uff08\u75c7\u72b6\u306e\u91cd\u3055\u306b\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\uff09\u300d\u304c\u5927\u304d\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5168\u304f\u7121\u75c7\u72b6\u306e\u89aa\u304b\u3089\u767a\u898b\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308c\u3070\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u5065\u5eb7\u4e0a\u306e\u554f\u984c\u3092\u62b1\u3048\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u30fb\u795e\u7d4c\u5b66\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u6ede\u30fb\u77e5\u7684\u969c\u5bb3:<\/strong> \u7d04\u534a\u6570\u306e\u60a3\u8005\u3055\u3093\u306b\u3001\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u767a\u9054\u9045\u6ede\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u7279\u306b<strong>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c<\/strong>\uff08\u8a71\u3057\u59cb\u3081\u304c\u9045\u3044\uff09\u3084\u3001\u5b66\u6821\u3067\u306e\u5b66\u7fd2\u969c\u5bb3\uff08LD\uff09\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027\uff08ASD\/ADHD\uff09:<\/strong> \u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u3084\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u306e\u8a3a\u65ad\u3092\u53d7\u3051\u308b\u3001\u3042\u308b\u3044\u306f\u305d\u306e\u50be\u5411\uff08\u793e\u4f1a\u6027\u306e\u672a\u719f\u3055\u3001\u843d\u3061\u7740\u304d\u306e\u306a\u3055\uff09\u3092\u6301\u3064\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u75c7\u72b6:<\/strong> \u4e0d\u5b89\u969c\u5bb3\u3084\u5f37\u8feb\u6027\u969c\u5bb3\u3001\u307e\u305f\u6210\u4eba\u671f\u4ee5\u964d\u306b\u7d71\u5408\u5931\u8abf\u75c7\u306a\u3069\u306e\u7cbe\u795e\u75be\u60a3\u3092\u767a\u75c7\u3059\u308b\u30ea\u30b9\u30af\u304c\u4e00\u822c\u4eba\u53e3\u3088\u308a\u9ad8\u3044\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u9aa8\u683c\u7570\u5e38<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u300cDistal\uff08\u9060\u4f4d\uff09\u300d\u9818\u57df\u306e\u91cd\u8907\u306b\u304a\u3044\u3066\u3001\u8fd1\u5e74\u7279\u306b\u6ce8\u76ee\u3055\u308c\u3066\u3044\u308b\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u810a\u67f1\u5074\u5f2f\u75c7\uff08Scoliosis\uff09:<\/strong> \u80cc\u9aa8\u304c\u5de6\u53f3\u306b\u66f2\u304c\u308b\u5074\u5f2f\u75c7\u306e\u30ea\u30b9\u30af\u304c\u6709\u610f\u306b\u9ad8\u3044\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3042\u308b\u5927\u898f\u6a21\u7814\u7a76\u3067\u306f\u3001\u3053\u306e\u91cd\u8907\u3092\u6301\u3064\u4eba\u306e\u7d0430%\u306b\u5074\u5f2f\u304c\u898b\u3089\u308c\u305f\u3068\u3044\u3046\u30c7\u30fc\u30bf\u3082\u3042\u308a\u3001\u91cd\u8981\u306a\u30c1\u30a7\u30c3\u30af\u9805\u76ee\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u982d\u75c7:<\/strong> \u982d\u56f2\u304c\u5e73\u5747\u3088\u308a\u3082\u5c0f\u3055\u3044\uff08\u5c0f\u982d\u75c7\uff09\u50be\u5411\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u4f53\u91cd\u30fb\u4ee3\u8b1d\uff08\u4f4e\u4f53\u91cd\u306e\u50be\u5411\uff09<\/strong><\/p>\n\n\n\n<p>\u540c\u3058\u9818\u57df\u306e\u300c\u6b20\u5931\uff08Deletion\uff09\u300d\u304c\u91cd\u5ea6\u306e\u65e9\u671f\u80a5\u6e80\u3092\u5f15\u304d\u8d77\u3053\u3059\u306e\u306b\u5bfe\u3057\u3001\u3053\u306e\u300c\u91cd\u8907\uff08Duplication\uff09\u300d\u3067\u306f\u4f4e\u4f53\u91cd\uff08Underweight\uff09\u3084\u75e9\u8eab\u50be\u5411\u3092\u793a\u3059\u60a3\u8005\u3055\u3093\u304c\u591a\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u3001\u9818\u57df\u306b\u542b\u307e\u308c\u308bSH2B1\u907a\u4f1d\u5b50\u306e\u30b3\u30d4\u30fc\u6570\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u3001\u30a8\u30cd\u30eb\u30ae\u30fc\u4ee3\u8b1d\u3084\u98df\u6b32\u5236\u5fa1\u306e\u30b7\u30b0\u30ca\u30eb\uff08\u30ec\u30d7\u30c1\u30f3\u30b7\u30b0\u30ca\u30eb\uff09\u304c\u904e\u5270\u307e\u305f\u306f\u7570\u5e38\u306b\u50cd\u304f\u305f\u3081\u3067\u306f\u306a\u3044\u304b\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u5168\u3066\u306e\u60a3\u8005\u3055\u3093\u304c\u75e9\u305b\u3066\u3044\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u6a19\u6e96\u4f53\u91cd\u306e\u65b9\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>4. \u305d\u306e\u4ed6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b:<\/strong> \u4e73\u5e7c\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u3044\uff08\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\uff09\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><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\u304c\u3001\u5fc5\u9808\u306e\u75c7\u72b6\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>16\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff0816p11.2 distal\uff09\u306b\u304a\u3051\u308b\u3001\u7d04220kb\u306e\u5fae\u7d30\u91cd\u8907<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u767a\u751f\u6a5f\u5e8f<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\uff08BP2\u3068BP3\u306e\u9593\uff09\u306b\u306f\u3001DNA\u914d\u5217\u304c\u975e\u5e38\u306b\u3088\u304f\u4f3c\u305f\u300c\u5206\u7bc0\u91cd\u8907\uff08Segmental Duplications\uff09\u300d\u304c\u5b58\u5728\u3057\u307e\u3059\u3002\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\u7d50\u3073\u3064\u304d\u3001\u67d3\u8272\u4f53\u306e\u7d44\u63db\u3048\u30df\u30b9\uff08\u975e\u30a2\u30ea\u30eb\u9593\u540c\u6e90\u7d44\u63db\u3048\uff1aNAHR\uff09\u304c\u8d77\u3053\u308b\u3053\u3068\u3067\u3001\u907a\u4f1d\u5b50\u9818\u57df\u306e\u91cd\u8907\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\uff08\u7528\u91cf\u52b9\u679c\uff09<\/strong><\/p>\n\n\n\n<p>\u91cd\u8907\u3057\u305f\u9818\u57df\u306b\u306f\u7d049\u3064\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u304c3\u30b3\u30d4\u30fc\uff08\u901a\u5e38\u306f2\u30b3\u30d4\u30fc\uff09\u306b\u306a\u308b\u3053\u3068\u3067\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3001\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>SH2B1\u907a\u4f1d\u5b50:<\/strong> \u30ec\u30d7\u30c1\u30f3\uff08\u6e80\u8179\u30db\u30eb\u30e2\u30f3\uff09\u3084\u30a4\u30f3\u30b9\u30ea\u30f3\u306e\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306f\u4f53\u91cd\u8abf\u7bc0\u3084\u30a8\u30cd\u30eb\u30ae\u30fc\u4ee3\u8b1d\u3001\u8133\u306e\u767a\u9054\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3068\u3055\u308c\u3001\u672c\u75be\u60a3\u306b\u304a\u3051\u308b\u4f4e\u4f53\u91cd\u3084\u884c\u52d5\u7279\u6027\u3001\u9aa8\u683c\u7570\u5e38\u3068\u306e\u95a2\u9023\u304c\u5f37\u304f\u7591\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>ATXN2L, TUFM:<\/strong> \u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u3082\u795e\u7d4c\u6a5f\u80fd\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u907a\u4f1d\u5f62\u5f0f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\uff08\u512a\u6027\u907a\u4f1d\uff09\u5f62\u5f0f:<\/strong> \u89aa\u304b\u3089\u5b50\u307850%\u306e\u78ba\u7387\u3067\u907a\u4f1d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027:<\/strong> \u672c\u75be\u60a3\u306f\u3001\u7121\u75c7\u72b6\u307e\u305f\u306f\u8efd\u5fae\u306a\u75c7\u72b6\u306e\u89aa\u304b\u3089\u907a\u4f1d\u3057\u3066\u3044\u308b\u30b1\u30fc\u30b9\u304c\u591a\u304f\u898b\u3089\u308c\u307e\u3059\uff08\u89aa\u81ea\u8eab\u3082\u81ea\u5206\u304c\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u3053\u3068\u3092\u77e5\u3089\u306a\u3044\u5834\u5408\u304c\u591a\u3044\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>De novo\uff08\u65b0\u751f\uff09\u5909\u7570:<\/strong> \u4e21\u89aa\u306f\u6301\u3063\u3066\u304a\u3089\u305a\u3001\u7a81\u7136\u5909\u7570\u3067\u767a\u751f\u3059\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\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>\u67d3\u8272\u4f53\u306e\u91cd\u8907\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f<strong>\u5bfe\u75c7\u7642\u6cd5<\/strong>\u3068<strong>\u65e9\u671f\u7642\u80b2<\/strong>\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u30fb\u6559\u80b2\u7684\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u7642\u80b2:<\/strong> \u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3084\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3092\u901a\u3058\u3001\u8a00\u8449\u306e\u767a\u9054\u3084\u5fae\u7d30\u904b\u52d5\u3001\u793e\u4f1a\u6027\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5b66\u7fd2\u652f\u63f4:<\/strong> \u5b66\u7fd2\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u3001\u5b66\u6821\u3068\u9023\u643a\u3057\u3066\u500b\u5225\u306e\u5b66\u7fd2\u8a08\u753b\u3084\u74b0\u5883\u8abf\u6574\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u30fb\u5fc3\u7406\u9762\u306e\u30b5\u30dd\u30fc\u30c8:<\/strong>\n<ul class=\"wp-block-list\">\n<li>ASD\u3084ADHD\u306e\u7279\u6027\u304c\u3042\u308b\u5834\u5408\u3001\u5c02\u9580\u533b\u306b\u3088\u308b\u8a55\u4fa1\u3068\u30da\u30a2\u30ec\u30f3\u30c8\u30fb\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u85ac\u7269\u7642\u6cd5\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e0d\u5b89\u3084\u7cbe\u795e\u7684\u306a\u4e0d\u8abf\u306b\u5bfe\u3057\u3066\u306f\u3001\u5fc3\u7406\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3084\u7cbe\u795e\u79d1\u7684\u30b1\u30a2\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8eab\u4f53\u7684\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff08\u5b9a\u671f\u691c\u67fb\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6574\u5f62\u5916\u79d1\u7684\u30c1\u30a7\u30c3\u30af:<\/strong> \u810a\u67f1\u5074\u5f2f\u75c7\u306e\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u3001\u5b66\u7ae5\u671f\u4ee5\u964d\u306f\u5b9a\u671f\u7684\u306b\u80cc\u9aa8\u306e\u72b6\u614b\u3092\u30c1\u30a7\u30c3\u30af\u3057\u3001\u65e9\u671f\u767a\u898b\u30fb\u65e9\u671f\u6cbb\u7642\uff08\u88c5\u5177\u7642\u6cd5\u306a\u3069\uff09\u306b\u7e4b\u3052\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u80b2\u30fb\u6804\u990a\u7ba1\u7406:<\/strong> \u4f4e\u4f53\u91cd\u3084\u6442\u98df\u306e\u554f\u984c\u304c\u3042\u308b\u5834\u5408\u3001\u6804\u990a\u6307\u5c0e\u3084\u4f53\u91cd\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b21\u5b50\u306e\u518d\u767a\u30ea\u30b9\u30af\u3084\u3001\u5bb6\u65cf\uff08\u5144\u5f1f\u59c9\u59b9\u3084\u89aa\uff09\u3078\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306e\u5fc5\u8981\u6027\u306b\u3064\u3044\u3066\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u76f8\u8ac7\u3057\u307e\u3059\u3002\u7279\u306b\u3001\u81e8\u5e8a\u75c7\u72b6\u306e\u5e45\u304c\u5e83\u3044\u3053\u3068\u3092\u7406\u89e3\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>16p11.2 duplication (distal) syndrome\u306f\u300116\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u306e\u907a\u4f1d\u5b50\uff08SH2B1\u7b49\uff09\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u5148\u5929\u6027\u306e\u4f53\u8cea\u3067\u3059\u3002\u75c7\u72b6\u306b\u306f\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u884c\u52d5\u306e\u7279\u6027\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308c\u3070\u3001\u307b\u3068\u3093\u3069\u7121\u75c7\u72b6\u3067\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u308b\u65b9\u3082\u3044\u307e\u3059\u3002\u7279\u5fb4\u7684\u306a\u70b9\u3068\u3057\u3066\u3001\u810a\u67f1\u5074\u5f2f\u75c7\u3084\u4f4e\u4f53\u91cd\u306e\u50be\u5411\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u8a3a\u65ad\u5f8c\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u6559\u80b2\u7684\u30fb\u533b\u5b66\u7684\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u305d\u306e\u4eba\u3089\u3057\u3044\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\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>Simons Searchlight<\/strong>: 16p11.2 Distal Duplication Syndrome (BP2-BP3).<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: 16p11.2 Microduplications (Distal).<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: 16p11.2 distal (BP2-BP3) duplication.<\/li>\n\n\n\n<li><strong>Sadler B, et al.<\/strong> (2019). Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis. <em>Journal of Medical Genetics<\/em>.<\/li>\n\n\n\n<li><strong>Loviglio MN, et al.<\/strong> (2016). The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity. <em>Nature Genetics<\/em> (Referencing the distal locus effects).<\/li>\n\n\n\n<li><strong>Bachmann-Gagescu R, et al.<\/strong> (2010). Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. <em>Genetics in Medicine<\/em>.<\/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-16675","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\/16675","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":4,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16675\/revisions"}],"predecessor-version":[{"id":16843,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16675\/revisions\/16843"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16675"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}