{"id":16684,"date":"2026-01-19T08:27:52","date_gmt":"2026-01-19T08:27:52","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16684"},"modified":"2026-01-20T06:01:55","modified_gmt":"2026-01-20T06:01:55","slug":"16p11-2-p12-2-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/16p11-2-p12-2-microdeletion-syndrome\/","title":{"rendered":"16p11.2-p12.2 microdeletion 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-p12.2\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>16p11.2-p12.2\u5927\u898f\u6a21\u6b20\u5931\uff08Large interstitial deletion 16p11.2-p12.2\uff09<\/li>\n\n\n\n<li>16p11.2-p12.2 contiguous gene deletion syndrome\uff0816p11.2-p12.2\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4\uff09<\/li>\n\n\n\n<li>Monosomy 16p11.2-p12.2\uff0816p11.2-p12.2\u30e2\u30ce\u30bd\u30df\u30fc\uff09<\/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\u304b\u308912.2\u9818\u57df\u306b\u304b\u3051\u3066<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u300116\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\uff09\u306b\u3042\u308b\u300c11.2\u300d\u304b\u3089\u300c12.2\u300d\u306b\u81f3\u308b\u307e\u3067\u306e\u3001\u6bd4\u8f03\u7684\u5e83\u7bc4\u56f2\u306aDNA\u914d\u5217\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u9818\u57df\u306e\u91cd\u8981\u6027\uff1a\u8907\u6570\u306e\u91cd\u8981\u9818\u57df\u3092\u542b\u3080\u5927\u898f\u6a21\u6b20\u5931\u3011<\/p>\n\n\n\n<p>16\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306b\u306f\u3001\u300c16p11.2\uff08\u8fd1\u4f4d\uff09\u300d\u3001\u300c16p11.2\uff08\u9060\u4f4d\uff09\u300d\u3001\u300c16p12.1\u300d\u3001\u300c16p12.2\u300d\u3068\u3044\u3063\u305f\u3001\u305d\u308c\u305e\u308c\u5358\u72ec\u3067\u3082\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u308b\u300c\u597d\u767a\u6b20\u5931\u9818\u57df\uff08\u30db\u30c3\u30c8\u30b9\u30dd\u30c3\u30c8\uff09\u300d\u304c\u4e26\u3093\u3067\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c16p11.2-p12.2 microdeletion\u300d\u306f\u3001\u3053\u308c\u3089\u306e\u9818\u57df\u306e\u8907\u6570\u3001\u3042\u308b\u3044\u306f\u305d\u306e\u9593\u306e\u9818\u57df\u3092\u542b\u3093\u3067\u3054\u3063\u305d\u308a\u3068\u6b20\u5931\u3057\u3066\u3044\u308b\u72b6\u614b\u3092\u6307\u3059\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b20\u5931\u30b5\u30a4\u30ba:<\/strong> \u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u301c\u7d049Mb\u306b\u53ca\u3076\u3053\u3068\u304c\u3042\u308a\u3001\u901a\u5e38\u306e\u5fae\u7d30\u6b20\u5931\uff08\u7d040.6Mb\uff09\u306b\u6bd4\u3079\u3066\u975e\u5e38\u306b\u5927\u304d\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50:<\/strong> \u3053\u306e\u7bc4\u56f2\u306b\u306f\u6570\u5341\u301c\u767e\u4ee5\u4e0a\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u305d\u306e\u4e2d\u306b\u306f\u8133\u306e\u767a\u9054\u3001\u5fc3\u81d3\u306e\u5f62\u6210\u3001\u6210\u9577\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\uff08<em>KCTD13<\/em>, <em>TBX6<\/em>, <em>SH2B1<\/em>, <em>CDR2<\/em>, <em>EEF2K<\/em>\u306a\u3069\uff09\u304c\u591a\u6570\u5b58\u5728\u3057\u307e\u3059\u3002\u3053\u308c\u3089\u304c\u307e\u3068\u3081\u3066\u5931\u308f\u308c\u308b\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\u306b\u306a\u308b\uff09\u3053\u3068\u3067\u3001\u75c7\u72b6\u304c\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u203b\u6ce8\u610f\u70b9:<\/strong> \u8a3a\u65ad\u66f8\u306a\u3069\u3067\u5358\u306b\u300c16p\u6b20\u5931\u300d\u3068\u66f8\u304b\u308c\u3066\u3044\u3066\u3082\u3001\u305d\u306e\u7bc4\u56f2\uff08\u5ea7\u6a19\uff09\u306b\u3088\u3063\u3066\u5206\u985e\u304c\u5909\u308f\u308a\u307e\u3059\u3002\u672c\u9805\u3067\u306f\u3001p11.2\u304b\u3089p12.2\u306b\u307e\u305f\u304c\u308b\u5e83\u7bc4\u56f2\u6b20\u5931\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\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>\u975e\u5e38\u306b\u7a00\uff08Very Rare\uff09<\/strong><\/p>\n\n\n\n<p>\u500b\u5225\u306e\u300c16p11.2\u6b20\u5931\uff08\u7d042,000\u4eba\u306b1\u4eba\uff09\u300d\u3084\u300c16p12.2\u6b20\u5931\u300d\u3068\u6bd4\u8f03\u3057\u3066\u3001\u3053\u306e\u5e83\u7bc4\u56f2\u306b\u308f\u305f\u308b\u6b20\u5931\u306e\u767a\u751f\u983b\u5ea6\u306f\u6975\u3081\u3066\u4f4e\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e16\u754c\u7684\u306a\u75c7\u4f8b\u5831\u544a\u3082\u9650\u3089\u308c\u3066\u304a\u308a\u3001\u6b63\u78ba\u306a\u7d71\u8a08\u7684\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\uff08Rare Chromosome Disorder\uff09\u306e\u4e00\u3064\u306b\u5206\u985e\u3055\u308c\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>\u3053\u306e\u75c7\u5019\u7fa4\u306f\u3001\u6b20\u5931\u306e\u7bc4\u56f2\u304c\u5e83\u3044\u305f\u3081\u3001\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff08Contiguous gene syndrome\uff09\u300d\u3068\u3057\u3066\u306e\u6027\u8cea\u3092\u6301\u3061\u307e\u3059\u3002\u3064\u307e\u308a\u3001\u500b\u5225\u306e\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff0816p11.2\u6b20\u5931\u308416p12.2\u6b20\u5931\u306a\u3069\uff09\u306e\u7279\u5fb4\u3092\u4f75\u305b\u6301\u3061\u3001\u3055\u3089\u306b\u305d\u308c\u3089\u3088\u308a\u3082\u91cd\u7be4\u306a\u75c7\u72b6\u3092\u5448\u3059\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u6b20\u5931\u306e\u6b63\u78ba\u306a\u958b\u59cb\u70b9\u3068\u7d42\u4e86\u70b9\uff08\u30d6\u30ec\u30a4\u30af\u30dd\u30a4\u30f3\u30c8\uff09\u306f\u60a3\u8005\u3055\u3093\u3054\u3068\u306b\u7570\u306a\u308b\u305f\u3081\u3001\u75c7\u72b6\u306e\u51fa\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6210\u9577\u969c\u5bb3\u30fb\u8eab\u4f53\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<p>\u591a\u304f\u306e\u30b1\u30fc\u30b9\u3067\u3001\u51fa\u751f\u524d\u5f8c\u304b\u3089\u306e\u6210\u9577\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b50\u5bae\u5185\u767a\u80b2\u4e0d\u5168:<\/strong> \u598a\u5a20\u4e2d\u304b\u3089\u80ce\u5150\u304c\u5c0f\u3055\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u8eab\u9577\u30fb\u4f53\u91cd\u5897\u52a0\u4e0d\u826f:<\/strong> \u51fa\u751f\u5f8c\u3082\u8eab\u9577\u306e\u4f38\u3073\u304c\u60aa\u304f\u3001\u4f53\u91cd\u304c\u5897\u3048\u306b\u304f\u3044\uff08Failure to thrive\uff09\u3053\u3068\u304c\u3042\u308a\u3001\u7d4c\u7ba1\u6804\u990a\u306a\u3069\u306e\u6804\u990a\u7ba1\u7406\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f16p11.2\u6b20\u5931\uff08\u5358\u72ec\uff09\u304c\u300c\u80a5\u6e80\u300d\u50be\u5411\u3092\u793a\u3059\u306e\u3068\u5bfe\u7167\u7684\u3067\u3042\u308a\u3001\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u304c\u308b\u3053\u3068\u3067\u3088\u308a\u6df1\u523b\u306a\u6210\u9577\u969c\u5bb3\u304c\u751f\u3058\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5fb4\u7684\u306a\u9854\u8c8c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5e73\u5766\u306a\u9854\u7acb\u3061\uff08Flat facies\uff09<\/li>\n\n\n\n<li>\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09<\/li>\n\n\n\n<li>\u773c\u77bc\u88c2\u659c\u4e0b\uff08\u76ee\u304c\u5916\u5074\u306b\u4e0b\u304c\u3063\u3066\u3044\u308b\u30bf\u30ec\u76ee\u50be\u5411\uff09<\/li>\n\n\n\n<li>\u4f4e\u3044\u9f3b\u6881\u3001\u5c0f\u3055\u306a\u984e\uff08\u5c0f\u984e\u75c7\uff09<\/li>\n\n\n\n<li>\u8033\u306e\u5f62\u3084\u4f4d\u7f6e\u306e\u7570\u5e38\uff08\u4f4e\u4f4d\u4ed8\u7740\u8033\u3001\u5909\u5f62\uff09<\/li>\n\n\n\n<li>\u53e3\u84cb\u88c2\u3084\u53e3\u5507\u88c2\uff0816p12.2\u9818\u57df\u306e\u6b20\u5931\u306b\u95a2\u9023\uff09<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u767a\u9054\u30fb\u7cbe\u795e\u9045\u6ede<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\u3067\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\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>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/strong> \u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u91cd\u7be4\u306a\u9045\u308c:<\/strong> \u8a00\u8449\u304c\u51fa\u308b\u306e\u304c\u975e\u5e38\u306b\u9045\u3044\u3001\u3042\u308b\u3044\u306f\u767a\u8a9e\u304c\u307b\u3068\u3093\u3069\u898b\u3089\u308c\u306a\u3044\uff08Non-verbal\uff09\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u8868\u73fe\u8a00\u8a9e\uff08\u8a71\u3059\u3053\u3068\uff09\u3060\u3051\u3067\u306a\u304f\u3001\u53d7\u5bb9\u8a00\u8a9e\uff08\u7406\u89e3\u3059\u308b\u3053\u3068\uff09\u306b\u3082\u652f\u63f4\u304c\u5fc5\u8981\u306a\u30b1\u30fc\u30b9\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\u9045\u6ede:<\/strong> \u9996\u306e\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u9045\u308c\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<\/ul>\n\n\n\n<p><strong>3. \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> \u793e\u4f1a\u7684\u76f8\u4e92\u4f5c\u7528\u306e\u56f0\u96e3\u3084\u53cd\u5fa9\u884c\u52d5\u306a\u3069\u3001\u81ea\u9589\u75c7\u7279\u6027\u3092\u793a\u3059\u983b\u5ea6\u304c\u9ad8\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u884c\u52d5\u969c\u5bb3:<\/strong> \u591a\u52d5\u3001\u885d\u52d5\u6027\u3001\u653b\u6483\u6027\u3001\u81ea\u50b7\u884c\u52d5\u3001\u7761\u7720\u969c\u5bb3\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u74b0\u5883\u8abf\u6574\u3084\u884c\u52d5\u7642\u6cd5\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5148\u5929\u6027\u5947\u5f62\u30fb\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<p>\u5e83\u7bc4\u56f2\u306a\u907a\u4f1d\u5b50\u6b20\u5931\u306b\u3088\u308a\u3001\u8907\u6570\u306e\u81d3\u5668\u306b\u5408\u4f75\u75c7\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u3001\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09\u3001\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u306a\u3069\u306e\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306e\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c\u7570\u5e38:<\/strong> \u810a\u67f1\u5074\u5f2f\u75c7\u3001\u690e\u9aa8\u306e\u5f62\u614b\u7570\u5e38\u3001\u5185\u53cd\u8db3\u3001\u6307\u306e\u5947\u5f62\uff08\u77ed\u6307\u75c7\u306a\u3069\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u305d\u306e\u4ed6:<\/strong> \u814e\u81d3\u306e\u5947\u5f62\u3001\u514d\u75ab\u7cfb\u306e\u554f\u984c\uff08\u611f\u67d3\u3092\u7e70\u308a\u8fd4\u3057\u3084\u3059\u3044\uff09\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\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\uff0816p\uff09\u306b\u304a\u3051\u308b\u5e83\u7bc4\u56f2\u306a\u6b20\u5931<\/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>16\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\u306b\u306f\u3001\u4f4e\u30b3\u30d4\u30fc\u53cd\u5fa9\u914d\u5217\uff08LCR: Low Copy Repeats\uff09\u3068\u547c\u3070\u308c\u308b\u3001DNA\u306e\u5869\u57fa\u914d\u5217\u304c\u975e\u5e38\u306b\u4f3c\u901a\u3063\u305f\u30d6\u30ed\u30c3\u30af\u304c\u591a\u6570\u6563\u3089\u3070\u3063\u3066\u3044\u307e\u3059\uff08LCR16a\u306a\u3069\uff09\u3002<\/p>\n\n\n\n<p>\u901a\u5e38\u3001\u3053\u308c\u3089\u306eLCR\u306f\u300116p11.2\u6b20\u5931\u306a\u3069\u306e\u300c\u5c0f\u3055\u306a\u300d\u6b20\u5931\u3092\u5f15\u304d\u8d77\u3053\u3059\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u304c\u3001\u7a00\u306b\u96e2\u308c\u305f\u4f4d\u7f6e\u306b\u3042\u308bLCR\u540c\u58eb\uff08\u4f8b\uff1ap11.2\u306b\u3042\u308bLCR\u3068p12.2\u306b\u3042\u308bLCR\uff09\u304c\u6e1b\u6570\u5206\u88c2\u306e\u969b\u306b\u8aa4\u3063\u3066\u7d50\u3073\u3064\u304d\u3001\u305d\u306e\u9593\u306e\u5e83\u5927\u306a\u9818\u57df\u304c\u6b20\u5931\u3057\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3092NAHR\uff08\u975e\u30a2\u30ea\u30eb\u9593\u540c\u6e90\u7d44\u63db\u3048\uff09\u3068\u547c\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001LCR\u306b\u95a2\u4fc2\u306a\u304f\u3001\u67d3\u8272\u4f53\u306e\u30e9\u30f3\u30c0\u30e0\u306a\u5207\u65ad\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Gene Dosage Effect\uff09<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u6b20\u5931\u306b\u3088\u308a\u3001\u591a\u304f\u306e\u907a\u4f1d\u5b50\u304c\u7247\u65b9\u306e\u67d3\u8272\u4f53\u304b\u3089\u5931\u308f\u308c\u307e\u3059\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>16p11.2\u9818\u57df\u306e\u907a\u4f1d\u5b50:<\/strong> <em>KCTD13, MAPK3<\/em>\u306a\u3069\u304c\u5931\u308f\u308c\u308b\u3068\u3001\u81ea\u9589\u75c7\u7279\u6027\u3084\u767a\u9054\u9045\u6ede\u306e\u30ea\u30b9\u30af\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>16p12.2\u9818\u57df\u306e\u907a\u4f1d\u5b50:<\/strong> <em>CDR2, EEF2K<\/em>\u306a\u3069\u304c\u5931\u308f\u308c\u308b\u3068\u3001\u9854\u8c8c\u306e\u7279\u5fb4\u3084\u6210\u9577\u969c\u5bb3\u3001\u53e3\u84cb\u88c2\u306a\u3069\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u9593\u306e\u907a\u4f1d\u5b50:<\/strong> \u3053\u306e2\u3064\u306e\u30db\u30c3\u30c8\u30b9\u30dd\u30c3\u30c8\u306e\u9593\u306b\u3042\u308b\u907a\u4f1d\u5b50\u7fa4\u3082\u5931\u308f\u308c\u308b\u305f\u3081\u3001\u75c7\u72b6\u304c\u8907\u5408\u7684\u304b\u3064\u91cd\u7be4\u306b\u306a\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>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\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u767a\u7684\u306b\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4e00\u822c\u96c6\u56e3\u3068\u307b\u307c\u5909\u308f\u308a\u307e\u305b\u3093\uff08\u975e\u5e38\u306b\u4f4e\u3044\u3067\u3059\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u5bb6\u65cf\u6027:<\/strong> \u7a00\u306b\u3001\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u304c\u91cf\u306f\u6b63\u5e38\uff09\u300d\u3092\u6301\u3063\u3066\u304a\u308a\u3001\u305d\u3053\u304b\u3089\u4e0d\u5747\u8861\u306a\u6b20\u5931\u304c\u751f\u3058\u3066\u5b50\u4f9b\u306b\u907a\u4f1d\u3059\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u89aa\u304c\u30e2\u30b6\u30a4\u30af\uff08\u4f53\u306e\u4e00\u90e8\u7d30\u80de\u3060\u3051\u5909\u7570\u3092\u6301\u3064\uff09\u306e\u5834\u5408\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>\u5931\u308f\u308c\u305f\u67d3\u8272\u4f53\u9818\u57df\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6cbb\u7642\u306f\u3001\u73fe\u308c\u3066\u3044\u308b\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u9ad8\u3081\u308b\u305f\u3081\u306e\u5305\u62ec\u7684\u306a\u7642\u80b2\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u591a\u8077\u7a2e\u306b\u3088\u308b\u30c1\u30fc\u30e0\u533b\u7642\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u65e9\u671f\u4ecb\u5165\u3068\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/strong><\/p>\n\n\n\n<p>\u8a3a\u65ad\u5f8c\u3001\u3067\u304d\u308b\u3060\u3051\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u958b\u59cb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u7c97\u5927\u904b\u52d5\u306e\u7372\u5f97\u3092\u4fc3\u3057\u307e\u3059\u3002\u6b69\u884c\u5668\u3084\u88c5\u5177\u306e\u4f7f\u7528\u3092\u691c\u8a0e\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u624b\u6307\u306e\u5de7\u7dfb\u6027\uff08\u4e0d\u5668\u7528\u3055\u306e\u6539\u5584\uff09\u3001\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\uff08\u7740\u66ff\u3048\u3001\u98df\u4e8b\uff09\u3001\u611f\u899a\u7d71\u5408\u3078\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<\/strong> \u3053\u3068\u3070\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u767a\u751f\u7df4\u7fd2\u3060\u3051\u3067\u306a\u304f\u3001\u30b5\u30a4\u30f3\u8a00\u8a9e\u3001\u7d75\u30ab\u30fc\u30c9\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\uff08AAC\uff09\u306a\u3069\u3092\u7528\u3044\u305f\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u306e\u7372\u5f97\u3092\u652f\u63f4\u3057\u307e\u3059\u3002\u6442\u98df\u56a5\u4e0b\u969c\u5bb3\uff08\u98f2\u307f\u8fbc\u307f\u306b\u304f\u3055\uff09\u304c\u3042\u308b\u5834\u5408\u3082ST\u304c\u5bfe\u5fdc\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u533b\u5b66\u7684\u7ba1\u7406\u3068\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9<\/strong><\/p>\n\n\n\n<p>\u8a3a\u65ad\u6642\u304a\u3088\u3073\u5b9a\u671f\u7684\u306b\u3001\u5168\u8eab\u306e\u5408\u4f75\u75c7\u30c1\u30a7\u30c3\u30af\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5faa\u74b0\u5668:<\/strong> \u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u3067\u5fc3\u75be\u60a3\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u624b\u8853\u3084\u6295\u85ac\u7ba1\u7406\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f62\u6210\u5916\u79d1\u30fb\u53e3\u8154\u5916\u79d1:<\/strong> \u53e3\u5507\u53e3\u84cb\u88c2\u304c\u3042\u308b\u5834\u5408\u3001\u5f62\u6210\u624b\u8853\u3084\u8a00\u8a9e\u6cbb\u7642\u3092\u8a08\u753b\u7684\u306b\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1:<\/strong> \u5074\u5f2f\u75c7\u3084\u95a2\u7bc0\u306e\u554f\u984c\u306b\u5bfe\u3057\u3001\u5b9a\u671f\u7684\u306a\u30ec\u30f3\u30c8\u30b2\u30f3\u64ae\u5f71\u3084\u88c5\u5177\u7642\u6cd5\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u5185\u79d1:<\/strong> \u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u3001\u8133\u6ce2\u691c\u67fb\u3092\u884c\u3044\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6804\u990a\u7ba1\u7406:<\/strong> \u4f53\u91cd\u5897\u52a0\u4e0d\u826f\u306b\u5bfe\u3057\u3001\u9ad8\u30ab\u30ed\u30ea\u30fc\u98df\u306e\u6307\u5c0e\u3084\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u7d4c\u7ba1\u6804\u990a\u306e\u7ba1\u7406\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u6559\u80b2\u30fb\u751f\u6d3b\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7279\u5225\u652f\u63f4\u6559\u80b2:<\/strong> \u77e5\u7684\u969c\u5bb3\u3084\u8eab\u4f53\u7684\u30b1\u30a2\u306e\u5fc5\u8981\u6027\u306b\u5fdc\u3058\u3001\u7279\u5225\u652f\u63f4\u5b66\u6821\u3084\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u3001\u9069\u5207\u306a\u6559\u80b2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002\u500b\u5225\u306e\u6559\u80b2\u652f\u63f4\u8a08\u753b\uff08IEP\uff09\u306b\u57fa\u3065\u304d\u3001\u8eab\u8fba\u81ea\u7acb\u3084\u793e\u4f1a\u6027\u306e\u5411\u4e0a\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u306e\u5229\u7528:<\/strong> \u5150\u7ae5\u767a\u9054\u652f\u63f4\u3001\u653e\u8ab2\u5f8c\u7b49\u30c7\u30a4\u30b5\u30fc\u30d3\u30b9\u3001\u30ec\u30b9\u30d1\u30a4\u30c8\u30b1\u30a2\uff08\u77ed\u671f\u5165\u6240\uff09\u306a\u3069\u3092\u6d3b\u7528\u3057\u3001\u5bb6\u65cf\u306e\u8ca0\u62c5\u8efd\u6e1b\u3068\u672c\u4eba\u306e\u793e\u4f1a\u53c2\u52a0\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5bb6\u65cf\u652f\u63f4\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8a73\u7d30\u306a\u8a3a\u65ad:<\/strong> \u6b20\u5931\u306e\u7bc4\u56f2\u3092\u6b63\u78ba\u306b\u77e5\u308b\u305f\u3081\u306b\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0:<\/strong> \u6b21\u5b50\u306e\u518d\u767a\u30ea\u30b9\u30af\u8a55\u4fa1\u306e\u305f\u3081\u306b\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3092\u884c\u3046\u304b\u3069\u3046\u304b\u3092\u76f8\u8ac7\u3057\u307e\u3059\u3002\u5e83\u7bc4\u56f2\u306a\u6b20\u5931\u3067\u3042\u308b\u305f\u3081\u3001\u89aa\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u4fdd\u56e0\u8005\u3067\u3042\u308b\u53ef\u80fd\u6027\u3082\u8003\u616e\u3057\u3001\u614e\u91cd\u306a\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8:<\/strong> \u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308a\u3001\u9577\u671f\u7684\u306a\u30b1\u30a2\u304c\u5fc5\u8981\u3068\u306a\u308b\u305f\u3081\u3001\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8\u3084\u3001\u540c\u3058\u5883\u9047\u306e\u5bb6\u65cf\u4f1a\uff08\u60a3\u8005\u4f1a\uff09\u60c5\u5831\u306e\u63d0\u4f9b\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>16p11.2-p12.2 microdeletion syndrome\u306f\u300116\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306e\u6bd4\u8f03\u7684\u5e83\u3044\u7bc4\u56f2\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u822c\u306b\u3088\u304f\u77e5\u3089\u308c\u308b\u300c16p11.2\u6b20\u5931\u300d\u3088\u308a\u3082\u7bc4\u56f2\u304c\u5e83\u304f\u3001\u591a\u304f\u306e\u907a\u4f1d\u5b50\u304c\u95a2\u4e0e\u3059\u308b\u305f\u3081\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u304c\u3088\u308a\u306f\u3063\u304d\u308a\u3068\u73fe\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u306f\u4e00\u4eba\u3072\u3068\u308a\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u5fc3\u81d3\u3084\u6210\u9577\u3001\u767a\u9054\u9762\u3067\u306e\u8ab2\u984c\u306b\u5bfe\u3057\u3066\u3001\u533b\u7642\u30fb\u7642\u80b2\u30fb\u6559\u80b2\u30fb\u798f\u7949\u304c\u9023\u643a\u3057\u3066\u9577\u671f\u7684\u306b\u30b5\u30dd\u30fc\u30c8\u3057\u3066\u3044\u304f\u4f53\u5236\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u304c\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u9069\u5207\u306a\u30b1\u30a2\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u6301\u3063\u3066\u3044\u308b\u53ef\u80fd\u6027\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\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>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>16p11.2 deletions<\/em> (Typically focuses on the small deletion, but references larger deletions in extended guides).<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>16p12 deletions<\/em> (Contains information on contiguous deletions).<\/li>\n\n\n\n<li><strong>Ballif BC, et al.<\/strong> (2007). <em>Identification of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.<\/em> Nature Genetics, 39(9), 1071-1073.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u672c\u75be\u60a3\u306e\u6982\u5ff5\u3092\u78ba\u7acb\u3057\u305f\u91cd\u8981\u306a\u8ad6\u6587\u306e\u4e00\u3064\u3002p11.2-p12.2\u9818\u57df\u306e\u5927\u898f\u6a21\u6b20\u5931\u3068\u81e8\u5e8a\u50cf\u306e\u95a2\u9023\u3092\u5831\u544a\u3057\u3066\u3044\u307e\u3059)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Battaglia A, et al.<\/strong> (2009). <em>Further characterization of the new microdeletion syndrome of 16p11.2-p12.2.<\/em> American Journal of Medical Genetics Part A, 149A(6), 1200-1204.<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>16p11.2 region<\/em> \/ <em>16p12.2 region<\/em>.<\/li>\n\n\n\n<li><strong>DECIPHER Database<\/strong>: <em>Genomic coordinates and phenotype data for 16p11.2-p12.2 deletions.<\/em><\/li>\n\n\n\n<li><strong>Sanna-Cherchi S, et al.<\/strong> (2012). <em>The chromosome 16p11.2 deletion syndrome: phenotypes and candidate genes.<\/em> (Discusses the variability and extended deletions).<\/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-16684","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\/16684","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\/16684\/revisions"}],"predecessor-version":[{"id":16840,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16684\/revisions\/16840"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16684"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}