{"id":17118,"date":"2026-01-21T06:54:35","date_gmt":"2026-01-21T06:54:35","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17118"},"modified":"2026-01-21T06:54:35","modified_gmt":"2026-01-21T06:54:35","slug":"6q24-duplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/6q24-duplication-syndrome\/","title":{"rendered":"6q24 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>6q24\u91cd\u8907\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>6q24\u95a2\u9023\u4e00\u904e\u6027\u65b0\u751f\u5150\u7cd6\u5c3f\u75c5\uff086q24-related Transient Neonatal Diabetes Mellitus; 6q24-related TNDM\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75c7\u5019\u7fa4\u306e\u6700\u3082\u4e2d\u6838\u7684\u306a\u75c7\u72b6\u304c\u300c\u4e00\u904e\u6027\u65b0\u751f\u5150\u7cd6\u5c3f\u75c5\u300d\u3067\u3042\u308b\u305f\u3081\u3001\u81e8\u5e8a\u7684\u306b\u306f\u3053\u306e\u540d\u79f0\u3067\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>TNDM1\uff08Transient Neonatal Diabetes Mellitus type 1\uff09<\/li>\n\n\n\n<li>6q24\u30c8\u30ea\u30bd\u30df\u30fc\uff08Trisomy 6q24\uff09<\/li>\n\n\n\n<li>\u90e8\u5206\u76846q\u30c8\u30ea\u30bd\u30df\u30fc<\/li>\n\n\n\n<li>PLAGL1\u91cd\u8907\u75c7\u5019\u7fa4<\/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>6\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0924\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e6\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u300c24\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\uff08\u7279\u306b6q24.2\uff09\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\u300c\u30b2\u30ce\u30e0\u5237\u308a\u8fbc\u307f\u300d\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u3092\u7406\u89e3\u3059\u308b\u305f\u3081\u306b\u306f\u3001**\u300c\u30b2\u30ce\u30e0\u5237\u308a\u8fbc\u307f\uff08Genomic Imprinting\uff09\u300d\u3068\u3044\u3046\u6982\u5ff5\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u901a\u5e38\u3001\u79c1\u305f\u3061\u306e\u907a\u4f1d\u5b50\u306f\u7236\u89aa\u7531\u6765\u3068\u6bcd\u89aa\u7531\u6765\u306e2\u30bb\u30c3\u30c8\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u304c\u30016q24\u9818\u57df\u306b\u3042\u308b\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u7fa4\u306f\u3001\u300c\u7236\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060\u65b9\u3060\u3051\u304c\u50cd\u304d\u3001\u6bcd\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060\u65b9\u306f\u30b9\u30a4\u30c3\u30c1\u304c\u30aa\u30d5\u306b\u306a\u3063\u3066\u3044\u308b\uff08\u767a\u73fe\u3057\u306a\u3044\uff09\u300d**\u3068\u3044\u3046\u7279\u6b8a\u306a\u5236\u5fa1\u3092\u53d7\u3051\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3092\u7236\u6027\u767a\u73fe\uff08Paternally expressed\uff09\u3068\u8a00\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u8cac\u4efb\u907a\u4f1d\u5b50\uff1aPLAGL1\u3068HYMAI\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u4ee5\u4e0b\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>PLAGL1 (ZAC1):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u91cd\u8981\u306e\u8cac\u4efb\u907a\u4f1d\u5b50<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7d30\u80de\u5468\u671f\u306e\u5236\u5fa1\u3084\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\uff08\u7d30\u80de\u6b7b\uff09\u3001\u305d\u3057\u3066\u30a4\u30f3\u30b9\u30ea\u30f3\u5206\u6ccc\u306e\u8abf\u7bc0\u306b\u95a2\u308f\u308b\u8ee2\u5199\u56e0\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f79\u5272:<\/strong> \u81b5\u81d3\u306e\u03b2\u7d30\u80de\uff08\u30a4\u30f3\u30b9\u30ea\u30f3\u3092\u51fa\u3059\u7d30\u80de\uff09\u306e\u5897\u6b96\u3092\u6291\u3048\u308b\u50cd\u304d\u304c\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u8907\u306e\u5f71\u97ff:<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u304c\u91cd\u8907\u3057\u3001\u904e\u5270\u306b\u767a\u73fe\u3059\u308b\uff08\u91cf\u304c\u591a\u3059\u304e\u308b\uff09\u3068\u3001\u81b5\u81d3\u306e\u03b2\u7d30\u80de\u306e\u767a\u9054\u304c\u6291\u5236\u3055\u308c\u3001\u30a4\u30f3\u30b9\u30ea\u30f3\u304c\u51fa\u306a\u304f\u306a\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u3002\u3053\u308c\u304c\u65b0\u751f\u5150\u7cd6\u5c3f\u75c5\u306e\u539f\u56e0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>HYMAI:<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>PLAGL1<\/em>\u3068\u540c\u3058\u5236\u5fa1\u3092\u53d7\u3051\u308b\u30ce\u30f3\u30b3\u30fc\u30c7\u30a3\u30f3\u30b0RNA\u3067\u3059\u304c\u3001\u8a73\u7d30\u306a\u6a5f\u80fd\u306f\u5b8c\u5168\u306b\u306f\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u3010\u306a\u305c\u300c\u91cd\u8907\u300d\u3067\u767a\u75c7\u3059\u308b\u306e\u304b\uff1f\u3011<\/p>\n\n\n\n<p>\u901a\u5e38\u3001\u7236\u89aa\u7531\u6765\u306e\u67d3\u8272\u4f53\uff081\u672c\uff09\u304b\u3089\u306e\u307fPLAGL1\u304c\u4f5c\u3089\u308c\u3001\u6bcd\u89aa\u7531\u6765\uff081\u672c\uff09\u304b\u3089\u306f\u4f5c\u3089\u308c\u307e\u305b\u3093\uff08\u5408\u8a081\u672c\u5206\uff09\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u7236\u89aa\u7531\u6765\u306e6q24\u9818\u57df\u304c\u91cd\u8907\u3059\u308b\u3068\u3001\u7236\u89aa\u7531\u6765\u306e\u907a\u4f1d\u5b50\u304c2\u672c\u5206\u306b\u306a\u308a\u3001\u6bcd\u89aa\u7531\u6765\uff080\u672c\uff09\u3068\u5408\u308f\u305b\u3066\u5408\u8a082\u672c\u5206\u306ePLAGL1\u304c\u4f5c\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3064\u307e\u308a\u3001**\u300c\u901a\u5e38\u306e2\u500d\u306e\u91cf\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u300d**\u304c\u4f5c\u3089\u308c\u308b\u3053\u3068\u306b\u306a\u308a\u3001\u3053\u308c\u304c\u904e\u5270\u306a\u6291\u5236\u4f5c\u7528\u3068\u3057\u3066\u50cd\u3044\u3066\u3057\u307e\u3046\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u203b\u6bcd\u89aa\u7531\u6765\u306e\u67d3\u8272\u4f53\u3067\u91cd\u8907\u304c\u8d77\u304d\u3066\u3082\u3001\u6bcd\u89aa\u7531\u6765\u306e\u30b9\u30a4\u30c3\u30c1\u306f\u5143\u3005\u30aa\u30d5\u306b\u306a\u3063\u3066\u3044\u308b\u305f\u3081\u3001\u901a\u5e38\u306f\u767a\u75c7\u3057\u307e\u305b\u3093\uff08\u30b5\u30a4\u30ec\u30f3\u30c8\u4fdd\u56e0\u8005\u3068\u306a\u308a\u307e\u3059\uff09\u3002<\/p>\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\u3002<\/p>\n\n\n\n<p>\u300c\u65b0\u751f\u5150\u7cd6\u5c3f\u75c5\u300d\u81ea\u4f53\u304c\u3001\u51fa\u751f300,000\u301c400,000\u4eba\u306b1\u4eba\u7a0b\u5ea6\u306e\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u65b0\u751f\u5150\u7cd6\u5c3f\u75c5\u306e\u3046\u3061\u3001\u7d04\u534a\u6570\uff0850\u301c60%\uff09\u304c\u4e00\u904e\u6027\uff08TNDM\uff09\u3067\u3042\u308a\u3001\u305d\u306e\u4e00\u904e\u6027\u7cd6\u5c3f\u75c5\u306e\u539f\u56e0\u306e\u3046\u3061\u3001\u7d0470%\u304c\u3053\u306e\u300c6q24\u9818\u57df\u306e\u7570\u5e38\u300d\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u30016q24\u9818\u57df\u306e\u7570\u5e38\u306e\u539f\u56e0\u5185\u8a33\u3068\u3057\u3066\u306f\u3001\u300c\u7236\u89aa\u6027\u30c0\u30a4\u30bd\u30df\u30fc\uff08UPD\uff09\u300d\u304c\u7d0440%\u3001\u300c\u7236\u89aa\u7531\u6765\u67d3\u8272\u4f53\u306e\u91cd\u8907\uff08\u672c\u75be\u60a3\uff09\u300d\u304c\u7d0430-40%\u3001\u300c\u30e1\u30c1\u30eb\u5316\u7570\u5e38\u300d\u304c\u7d0420%\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u305f\u304c\u3063\u3066\u3001\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3059\u304c\u3001\u65b0\u751f\u5150\u671f\u306b\u7cd6\u5c3f\u75c5\u3092\u767a\u75c7\u3057\u305f\u5834\u5408\u306f\u3001\u307e\u305a\u7b2c\u4e00\u306b\u7591\u308f\u308c\u308b\u91cd\u8981\u306a\u9451\u5225\u75be\u60a3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6027\u5225\u306b\u3088\u308b\u767a\u751f\u983b\u5ea6\u306e\u5dee\u306f\u306a\u304f\u3001\u7537\u5150\u306b\u3082\u5973\u5150\u306b\u3082\u767a\u751f\u3057\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>6q24 duplication syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u4e00\u904e\u6027\u65b0\u751f\u5150\u7cd6\u5c3f\u75c5\u300d\u300c\u5b50\u5bae\u5185\u767a\u80b2\u9045\u5ef6\u300d\u300c\u7279\u5fb4\u7684\u306a\u8eab\u4f53\u6240\u898b\u300d**\u306e3\u3064\u304c\u67f1\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u7cd6\u5c3f\u75c5\u306e\u7d4c\u904e\uff08\u767a\u75c7\u2192\u5bdb\u89e3\u2192\u518d\u767a\uff09\u304c\u975e\u5e38\u306b\u7279\u5fb4\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. 6q24\u95a2\u9023\u4e00\u904e\u6027\u65b0\u751f\u5150\u7cd6\u5c3f\u75c5\uff08TNDM\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e\u4ee3\u540d\u8a5e\u3068\u3082\u8a00\u3048\u308b\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u75c7\u6642\u671f:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u307b\u3068\u3093\u3069\u306e\u5834\u5408\u3001<strong>\u751f\u5f8c1\u9031\u9593\u4ee5\u5185<\/strong>\u306b\u767a\u75c7\u3057\u307e\u3059\u3002\u9045\u304f\u3068\u3082\u751f\u5f8c3\u30f6\u6708\u4ee5\u5185\u306b\u306f\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u75c7\u72b6\u3068\u3057\u3066\u3001\u91cd\u5ea6\u306e\u9ad8\u8840\u7cd6\u3001\u5c3f\u7cd6\u3001\u8131\u6c34\u304c\u898b\u3089\u308c\u307e\u3059\u304c\u30011\u578b\u7cd6\u5c3f\u75c5\u306e\u3088\u3046\u306a\u300c\u30b1\u30c8\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\uff08\u8840\u6db2\u304c\u9178\u6027\u306b\u306a\u308b\u5371\u967a\u306a\u72b6\u614b\uff09\u300d\u306b\u306f\u306a\u308a\u306b\u304f\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\uff08\u30a4\u30f3\u30b9\u30ea\u30f3\u304c\u30bc\u30ed\u3067\u306f\u306a\u3044\u305f\u3081\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7d4c\u904e\uff08\u4e00\u904e\u6027\u3068\u306f\uff1f\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5bdb\u89e3:<\/strong> \u30a4\u30f3\u30b9\u30ea\u30f3\u6cbb\u7642\u3092\u884c\u3046\u3053\u3068\u3067\u8840\u7cd6\u5024\u306f\u5b89\u5b9a\u3057\u3001\u591a\u304f\u306e\u60a3\u5150\u3067<strong>\u751f\u5f8c12\u9031\u301c18\u9031\uff08\u5e73\u57473\u301c4\u30f6\u6708\uff09\u9803<\/strong>\u306b\u3001\u30a4\u30f3\u30b9\u30ea\u30f3\u6cbb\u7642\u304c\u4e0d\u8981\u306a\u72b6\u614b\uff08\u5bdb\u89e3\uff09\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u81b5\u81d3\u306e\u6a5f\u80fd\u304c\u6210\u719f\u3057\u3001\u30a4\u30f3\u30b9\u30ea\u30f3\u5206\u6ccc\u80fd\u529b\u304c\u8ffd\u3044\u3064\u3044\u3066\u304f\u308b\u305f\u3081\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u518d\u767a\u306e\u30ea\u30b9\u30af:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u300c\u4e00\u904e\u6027\u300d\u3068\u3044\u3046\u540d\u524d\u3067\u3059\u304c\u3001<strong>\u7d0450\u301c60%\u306e\u60a3\u8005\u3055\u3093\u3067\u3001\u5c06\u6765\u7684\u306b\u7cd6\u5c3f\u75c5\u304c\u518d\u767a<\/strong>\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6642\u671f:<\/strong> \u601d\u6625\u671f\uff08\u6025\u6fc0\u306a\u6210\u9577\u671f\uff09\u3084\u598a\u5a20\u6642\u3001\u6210\u4eba\u671f\u4ee5\u964d\u306b\u518d\u767a\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306f\u3001\u52a0\u9f62\u3084\u4f53\u91cd\u5897\u52a0\u306b\u3088\u3063\u3066\u30a4\u30f3\u30b9\u30ea\u30f3\u62b5\u6297\u6027\uff08\u52b9\u304d\u306b\u304f\u3055\uff09\u304c\u51fa\u3066\u304d\u305f\u6642\u306b\u3001\u5143\u3005\u306e\u30a4\u30f3\u30b9\u30ea\u30f3\u5206\u6ccc\u4e88\u5099\u80fd\u306e\u4f4e\u3055\u304c\u9732\u5448\u3059\u308b\u305f\u3081\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6210\u9577\u969c\u5bb3\u30fb\u5b50\u5bae\u5185\u767a\u80b2\u9045\u5ef6\uff08IUGR\uff09<\/strong><\/p>\n\n\n\n<p><em>PLAGL1<\/em>\u907a\u4f1d\u5b50\u306f\u7d30\u80de\u5897\u6b96\u3092\u6291\u5236\u3059\u308b\u305f\u3081\u3001\u80ce\u5150\u671f\u306e\u6210\u9577\u5168\u4f53\u304c\u6291\u5236\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u51fa\u751f\u4f53\u91cd:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u307b\u307c\u5168\u4f8b\u3067\u3001\u5728\u80ce\u9031\u6570\u306b\u6bd4\u3079\u3066\u5c0f\u3055\u304f\u751f\u307e\u308c\u307e\u3059\uff08SGA\u5150\uff09\u3002\u5e73\u5747\u51fa\u751f\u4f53\u91cd\u306f2000g\u524d\u5f8c\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u51fa\u751f\u5f8c\u306e\u6210\u9577:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5e7c\u5150\u671f\u306f\u6210\u9577\u304c\u3086\u3063\u304f\u308a\u306a\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u5834\u5408\u306f\u5f90\u3005\u306b\u8ffd\u3044\u3064\u304d\uff08\u30ad\u30e3\u30c3\u30c1\u30a2\u30c3\u30d7\uff09\u3001\u6700\u7d42\u8eab\u9577\u306f\u6b63\u5e38\u7bc4\u56f2\u5185\u306b\u5165\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\u30fb\u8eab\u4f53\u6240\u898b<\/strong><\/p>\n\n\n\n<p>\u7cd6\u5c3f\u75c5\u4ee5\u5916\u306b\u3082\u3001\u3044\u304f\u3064\u304b\u306e\u8eab\u4f53\u7684\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5de8\u820c\uff08Macroglossia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u820c\u304c\u5927\u304d\u3044\u3053\u3068\u304c\u3042\u308a\u3001\u54fa\u4e73\u969c\u5bb3\u306e\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u81cd\u30d8\u30eb\u30cb\u30a2\uff08Umbilical hernia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3044\u308f\u3086\u308b\u300c\u3067\u3079\u305d\u300d\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u203b\u300c\u5de8\u820c\u300d\u3068\u300c\u81cd\u30d8\u30eb\u30cb\u30a2\u300d\u306f\u300111\u756a\u67d3\u8272\u4f53\u7570\u5e38\u306e\u300c\u30d9\u30c3\u30af\u30a6\u30a3\u30ba\u30fb\u30f4\u30a3\u30fc\u30c7\u30de\u30f3\u75c7\u5019\u7fa4\u300d\u306e\u7279\u5fb4\u3067\u3082\u3042\u308a\u307e\u3059\u304c\u30016q24\u91cd\u8907\u3067\u3082\u898b\u3089\u308c\u308b\u305f\u3081\u3001\u9451\u5225\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9854\u8c8c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5e83\u3044\u984d\u3001\u5c0f\u3055\u306a\u984e\u3001\u76ee\u3068\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff08\u773c\u9593\u958b\u96e2\uff09\u306a\u3069\u306e\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u76ee\u7acb\u305f\u306a\u3044\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u767a\u9054:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e00\u822c\u7684\u306b\u30016q24\u91cd\u8907\u75c7\u5019\u7fa4\uff08\u7279\u306b\u91cd\u8907\u7bc4\u56f2\u304c\u72ed\u3044\u5834\u5408\uff09\u3067\u306f\u3001<strong>\u77e5\u80fd\u306f\u6b63\u5e38<\/strong>\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3057\u304b\u3057\u3001\u91cd\u8907\u7bc4\u56f2\u304c\u5e83\u304f\u3001\u5468\u8fba\u306e\u4ed6\u306e\u907a\u4f1d\u5b50\u3082\u542b\u307e\u308c\u308b\u5834\u5408\u3084\u3001\u65b0\u751f\u5150\u671f\u306e\u91cd\u7be4\u306a\u9ad8\u8840\u7cd6\u30fb\u8131\u6c34\u306e\u5f71\u97ff\u3092\u53d7\u3051\u305f\u5834\u5408\u306b\u306f\u3001\u767a\u9054\u9045\u6ede\u3084\u5b66\u7fd2\u969c\u5bb3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6587\u732e\u306b\u3088\u3063\u3066\u306f\u3001\u8efd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3084\u7cbe\u795e\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u304c\u7d0420%\u7a0b\u5ea6\u306b\u898b\u3089\u308c\u308b\u3068\u306e\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u814e\u30fb\u6ccc\u5c3f\u5668:<\/strong> \u6c34\u814e\u75c7\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u8efd\u5fae\u306a\u5fc3\u5947\u5f62\uff08\u7a00\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8ca7\u8840\u30fb\u8840\u5c0f\u677f\u6e1b\u5c11:<\/strong> \u65b0\u751f\u5150\u671f\u306b\u4e00\u904e\u6027\u306b\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>6\u756a\u67d3\u8272\u4f53\u9577\u8155\uff086q24\uff09\u306b\u304a\u3051\u308b\u3001\u7236\u89aa\u7531\u6765\u306e\u91cd\u8907<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\uff08duplication\uff09\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b\u3001\u7cbe\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3067\u306e\u30a8\u30e9\u30fc\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08Inherited\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u7236\u89aa\u304b\u3089\u306e\u907a\u4f1d:<\/strong> \u7236\u89aa\u304c\u3053\u306e\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u300150%\u306e\u78ba\u7387\u3067\u5b50\u306b\u907a\u4f1d\u3057\u3001\u5b50\u306f\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6bcd\u89aa\u304b\u3089\u306e\u907a\u4f1d:<\/strong> \u6bcd\u89aa\u304c\u3053\u306e\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u5b50\u306b\u907a\u4f1d\u3057\u3066\u3082\uff08\u6bcd\u89aa\u7531\u6765\u306e<em>PLAGL1<\/em>\u306f\u30aa\u30d5\u306b\u306a\u3063\u3066\u3044\u308b\u305f\u3081\uff09\u5b50\u306f\u767a\u75c7\u3057\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u305d\u306e\u5b50\u304c\u3055\u3089\u306b\u5b6b\u3078\u907a\u4f1d\u3055\u305b\u308b\u969b\u3001\u6027\u5225\u306b\u3088\u3063\u3066\u767a\u75c7\u30ea\u30b9\u30af\u304c\u5909\u308f\u308a\u307e\u3059\uff08\u3053\u308c\u3092\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u907a\u4f1d\u3068\u8a00\u3044\u307e\u3059\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. 6q24\u9818\u57df\u306e\u30e1\u30c1\u30eb\u5316\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>6q24\u9818\u57df\u306b\u306f\u3001\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u5236\u5fa1\u3059\u308b\u300c\u30e1\u30c1\u30eb\u5316\u8abf\u7bc0\u9818\u57df\uff08DMR\uff09\u300d\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b63\u5e38\u306a\u5834\u5408\u3001\u6bcd\u89aa\u7531\u6765\u306eDMR\u306f\u30e1\u30c1\u30eb\u5316\uff08\u30b9\u30a4\u30c3\u30c1OFF\uff09\u3055\u308c\u3001\u7236\u89aa\u7531\u6765\u306f\u975e\u30e1\u30c1\u30eb\u5316\uff08\u30b9\u30a4\u30c3\u30c1ON\uff09\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u91cd\u8907\u75c7\u5019\u7fa4\u3067\u306f\u3001\u3053\u306e\u300c\u30b9\u30a4\u30c3\u30c1ON\uff08\u7236\u89aa\u578b\uff09\u300d\u306e\u67d3\u8272\u4f53\u9818\u57df\u304c\u5897\u3048\u3066\u3044\u308b\u305f\u3081\u3001\u904e\u5270\u306a\u6307\u4ee4\u304c\u51fa\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u4ed6\u306e\u539f\u56e0\u3068\u306e\u9055\u3044\uff08\u53c2\u8003\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>6q24\u7570\u5e38\u306b\u306f\u3001\u91cd\u8907\u4ee5\u5916\u306b\u300c\u7236\u6027\u7247\u89aa\u6027\u30c0\u30a4\u30bd\u30df\u30fc\uff08UPD\uff09\u300d\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u30012\u672c\u306e6\u756a\u67d3\u8272\u4f53\u304c\u4e21\u65b9\u3068\u3082\u304a\u7236\u3055\u3093\u304b\u3089\u6765\u3066\u3057\u307e\u3063\u305f\u72b6\u614b\u3067\u3059\u3002\u75c7\u72b6\u306f\u91cd\u8907\u75c7\u5019\u7fa4\u3068\u307b\u307c\u540c\u3058\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6cbb\u7642\u65b9\u91dd\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\uff08\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\uff09\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u539f\u56e0\u304c\u300c\u91cd\u8907\u300d\u306a\u306e\u304b\u300cUPD\u300d\u306a\u306e\u304b\u3092\u533a\u5225\u3059\u308b\u3053\u3068\u306f\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u300c\u4f4e\u51fa\u751f\u4f53\u91cd\u300d\u3067\u751f\u307e\u308c\u3001\u751f\u5f8c\u9593\u3082\u306a\u304f\u300c\u9ad8\u8840\u7cd6\u300d\u3092\u5448\u3057\u305f\u5834\u5408\u306b\u5f37\u304f\u7591\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8840\u6db2\u691c\u67fb\u30fb\u5c3f\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9ad8\u8840\u7cd6\u3001\u5c3f\u7cd6\u3001\u4f4e\u30a4\u30f3\u30b9\u30ea\u30f3\u8840\u75c7\uff08C-\u30da\u30d7\u30c1\u30c9\u4f4e\u5024\uff09\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>1\u578b\u7cd6\u5c3f\u75c5\u95a2\u9023\u81ea\u5df1\u6297\u4f53\uff08GAD\u6297\u4f53\u306a\u3069\uff09\u306f<strong>\u9670\u6027<\/strong>\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u91cd\u8907\uff08Duplication\uff09\u3092\u8a3a\u65ad\u3059\u308b\u305f\u3081\u306e\u7b2c\u4e00\u9078\u629e<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>6q24\u9818\u57df\u306e\u30b3\u30d4\u30fc\u6570\u5897\u52a0\uff083\u30b3\u30d4\u30fc\uff09\u3092\u691c\u51fa\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u305d\u306e\u91cd\u8907\u304c\u300c\u7236\u89aa\u7531\u6765\u300d\u3067\u3042\u308b\u3053\u3068\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u3001\u4e21\u89aa\u306e\u691c\u4f53\u3092\u7528\u3044\u305f\u89e3\u6790\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>MS-MLPA\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>6q24\u9818\u57df\u306e\u30e1\u30c1\u30eb\u5316\u72b6\u614b\u3068\u30b3\u30d4\u30fc\u6570\u3092\u540c\u6642\u306b\u89e3\u6790\u3067\u304d\u308b\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u91cd\u8907\u3060\u3051\u3067\u306a\u304f\u3001UPD\u3084\u30e1\u30c1\u30eb\u5316\u7570\u5e38\u3082\u9451\u5225\u3067\u304d\u308b\u305f\u3081\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u975e\u5e38\u306b\u6709\u7528\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u7cd6\u5c3f\u75c5\u306b\u5bfe\u3059\u308b\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001**\u300c\u6025\u6027\u671f\u306e\u8840\u7cd6\u7ba1\u7406\u300d\u3068\u3001\u300c\u9577\u671f\u7684\u306a\u518d\u767a\u4e88\u9632\u300d**\u306e2\u6bb5\u968e\u3067\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u65b0\u751f\u5150\u671f\uff08\u6025\u6027\u671f\uff09\u306e\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30a4\u30f3\u30b9\u30ea\u30f3\u7642\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u751f\u5f8c\u3059\u3050\u306e\u9ad8\u8840\u7cd6\u306b\u5bfe\u3057\u3066\u306f\u3001\u30a4\u30f3\u30b9\u30ea\u30f3\u6295\u4e0e\uff08\u70b9\u6ef4\u307e\u305f\u306f\u76ae\u4e0b\u6ce8\u5c04\uff09\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u975e\u5e38\u306b\u5fae\u91cf\u306a\u8abf\u6574\u304c\u5fc5\u8981\u306a\u305f\u3081\u3001NICU\uff08\u65b0\u751f\u5150\u96c6\u4e2d\u6cbb\u7642\u5ba4\uff09\u3067\u306e\u7ba1\u7406\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u76ee\u7684\u306f\u3001\u9ad8\u8840\u7cd6\u306b\u3088\u308b\u8131\u6c34\u3092\u9632\u304e\u3001\u4f53\u91cd\u5897\u52a0\uff08\u6210\u9577\uff09\u3092\u4fc3\u3059\u3053\u3068\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30a4\u30f3\u30b9\u30ea\u30f3\u304b\u3089\u306e\u96e2\u8131:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u751f\u5f8c\u6570\u30f6\u6708\u7d4c\u3061\u3001\u81ea\u5206\u306e\u81b5\u81d3\u304b\u3089\u30a4\u30f3\u30b9\u30ea\u30f3\u304c\u51fa\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u304d\u305f\u3089\u3001\u5f90\u3005\u306b\u30a4\u30f3\u30b9\u30ea\u30f3\u3092\u6e1b\u91cf\u3057\u3001\u4e2d\u6b62\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5bdb\u89e3\u671f\uff08\u5e7c\u5150\u671f\u301c\u5b66\u7ae5\u671f\uff09\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30a4\u30f3\u30b9\u30ea\u30f3\u304c\u4e0d\u8981\u306b\u306a\u3063\u3066\u3082\u3001\u300c\u6cbb\u7652\u300d\u3057\u305f\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u7684\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6570\u30f6\u6708\u301c1\u5e74\u306b1\u56de\u7a0b\u5ea6\u3001HbA1c\uff08\u904e\u53bb1-2\u30f6\u6708\u306e\u8840\u7cd6\u72b6\u614b\u3092\u793a\u3059\u6570\u5024\uff09\u3092\u6e2c\u5b9a\u3057\u3001\u96a0\u308c\u305f\u9ad8\u8840\u7cd6\u304c\u306a\u3044\u304b\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u751f\u6d3b\u7fd2\u6163:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u80a5\u6e80\u306f\u518d\u767a\u306e\u6700\u5927\u306e\u30ea\u30b9\u30af\u56e0\u5b50\u3067\u3059\u3002\u30d0\u30e9\u30f3\u30b9\u306e\u53d6\u308c\u305f\u98df\u4e8b\u3068\u9069\u5ea6\u306a\u904b\u52d5\u3092\u5fc3\u304c\u3051\u3001\u9069\u6b63\u4f53\u91cd\u3092\u7dad\u6301\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u518d\u767a\u6642\u306e\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u601d\u6625\u671f\u4ee5\u964d\u306b\u7cd6\u5c3f\u75c5\u304c\u518d\u767a\u3057\u305f\u5834\u5408\u3001\u518d\u3073\u6cbb\u7642\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u98df\u4e8b\u30fb\u904b\u52d5\u7642\u6cd5:<\/strong> \u307e\u305a\u306f\u751f\u6d3b\u7fd2\u6163\u306e\u6539\u5584\u304b\u3089\u59cb\u3081\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7d4c\u53e3\u8840\u7cd6\u964d\u4e0b\u85ac:<\/strong> \u30b9\u30eb\u30db\u30cb\u30eb\u5c3f\u7d20\u85ac\uff08SU\u85ac\uff09\u306a\u3069\u304c\u52b9\u679c\u7684\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30a4\u30f3\u30b9\u30ea\u30f3\u7642\u6cd5:<\/strong> \u5fc5\u8981\u306b\u5fdc\u3058\u3066\u518d\u958b\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u767a\u9054\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u91cd\u8907\u7bc4\u56f2\u304c\u5e83\u304f\u3001\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u306f\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3084\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u306a\u3069\u306e\u7642\u80b2\u7684\u652f\u63f4\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/strong><\/li>\n\n\n\n<li>\u539f\u56e0\u304c\u300c\u7236\u89aa\u7531\u6765\u306e\u91cd\u8907\u300d\u3067\u3042\u3063\u305f\u5834\u5408\u3001\u7236\u89aa\u81ea\u8eab\u3082\uff08\u7121\u75c7\u72b6\u3067\u3042\u3063\u3066\u3082\uff09\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b21\u5b50\u306e\u518d\u767a\u30ea\u30b9\u30af\u3084\u3001\u5c06\u6765\u60a3\u8005\u3055\u3093\u81ea\u8eab\u304c\u5b50\u4f9b\u3092\u6301\u3064\u969b\u306e\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u3001\u6b63\u78ba\u306a\u60c5\u5831\u63d0\u4f9b\u3092\u884c\u3044\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>6q24 duplication syndrome\u306f\u30016\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u3001\u8d64\u3061\u3083\u3093\u306e\u6642\u306b\u4e00\u6642\u7684\u306b\u7cd6\u5c3f\u75c5\u306b\u306a\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u751f\u307e\u308c\u305f\u3070\u304b\u308a\u306e\u8d64\u3061\u3083\u3093\u304c\u7cd6\u5c3f\u75c5\u300d\u3068\u805e\u304f\u3068\u3001\u3054\u5bb6\u65cf\u306f\u5927\u5909\u9a5a\u304d\u3001\u30b7\u30e7\u30c3\u30af\u3092\u53d7\u3051\u3089\u308c\u308b\u3068\u601d\u3044\u307e\u3059\u3002\u4e00\u751f\u30a4\u30f3\u30b9\u30ea\u30f3\u6ce8\u5c04\u304c\u5fc5\u8981\u306a\u306e\u304b\u3068\u4e0d\u5b89\u306b\u306a\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u306e\u75c5\u6c17\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001\u751f\u5f8c\u6570\u30f6\u6708\u3067\u4e00\u5ea6\u7cd6\u5c3f\u75c5\u304c**\u300c\u6cbb\u308b\uff08\u5bdb\u89e3\u3059\u308b\uff09\u300d\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u81b5\u81d3\u306e\u6a5f\u80fd\u304c\u6210\u9577\u3068\u3068\u3082\u306b\u8ffd\u3044\u3064\u3044\u3066\u304f\u308b\u305f\u3081\u3001\u591a\u304f\u306e\u8d64\u3061\u3083\u3093\u304c\u30a4\u30f3\u30b9\u30ea\u30f3\u3092\u5352\u696d\u3057\u3001\u305d\u306e\u5f8c\u306f\u4ed6\u306e\u304a\u5b50\u3055\u3093\u3068\u540c\u3058\u3088\u3046\u306b\u5143\u6c17\u306b\u5b66\u6821\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u77e5\u7684\u306a\u767a\u9054\u3082\u3001\u591a\u304f\u306e\u5834\u5408\u306f\u6b63\u5e38\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u5b8c\u5168\u306b\u6cbb\u3063\u305f\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u5c06\u6765\u3001\u601d\u6625\u671f\u3084\u5927\u4eba\u306b\u306a\u3063\u305f\u6642\u306b\u7cd6\u5c3f\u75c5\u304c\u307e\u305f\u9854\u3092\u51fa\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u300c\u518d\u767a\u300d\u3092\u9632\u3050\u3001\u3042\u308b\u3044\u306f\u9045\u3089\u305b\u308b\u305f\u3081\u306e\u9375\u306f\u3001\u300c\u592a\u308a\u3059\u304e\u306a\u3044\u5065\u5eb7\u7684\u306a\u751f\u6d3b\u300d**\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a3a\u65ad\u306f\u3001\u3044\u308f\u3070\u300c\u5c06\u6765\u306e\u5065\u5eb7\u3092\u5b88\u308b\u305f\u3081\u306e\u30d1\u30b9\u30dd\u30fc\u30c8\u300d\u3092\u65e9\u304f\u306b\u624b\u306b\u5165\u308c\u305f\u3088\u3046\u306a\u3082\u306e\u3067\u3059\u3002\u5e7c\u3044\u9803\u304b\u3089\u3054\u5bb6\u65cf\u3067\u5065\u5eb7\u7684\u306a\u98df\u751f\u6d3b\u3092\u5fc3\u304c\u3051\u308b\u3053\u3068\u3067\u3001\u7cd6\u5c3f\u75c5\u306e\u30ea\u30b9\u30af\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u5150\u79d1\u533b\u3001\u5185\u5206\u6ccc\u5c02\u9580\u533b\u3001\u305d\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u9577\u3044\u76ee\u3067\u3001\u3057\u304b\u3057\u904e\u5ea6\u306b\u5fc3\u914d\u3057\u3059\u304e\u305a\u3001\u304a\u5b50\u3055\u3093\u306e\u6210\u9577\u3092\u898b\u5b88\u3063\u3066\u3044\u304d\u307e\u3057\u3087\u3046\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>Temple, I.K., et al.<\/strong> (2000). <em>Transient neonatal diabetes mellitus: widening the understanding of the etiology and epidemiology of diabetes.<\/em> Diabetes.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u4e00\u904e\u6027\u65b0\u751f\u5150\u7cd6\u5c3f\u75c5\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3001\u75ab\u5b66\u3001\u907a\u4f1d\u7684\u57fa\u76e4\uff086q24\u7570\u5e38\uff09\u306b\u3064\u3044\u3066\u5305\u62ec\u7684\u306b\u89e3\u8aac\u3057\u305f\u3001\u672c\u75be\u60a3\u306e\u57fa\u790e\u3068\u306a\u308b\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Mackay, D.J., et al.<\/strong> (2008). <em>Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b6q24\u9818\u57df\u306e\u30e1\u30c1\u30eb\u5316\u7570\u5e38\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3084\u3001\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u7570\u5e38\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u3092\u8a73\u7d30\u306b\u89e3\u6790\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Docherty, L.E., et al.<\/strong> (2013). <em>Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients.<\/em> Diabetologia.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u56fd\u969b\u7684\u306a\u5927\u898f\u6a21\u30b3\u30db\u30fc\u30c8\u7814\u7a76\u306b\u3088\u308a\u30016q24\u91cd\u8907\u3092\u542b\u3080\u5404\u907a\u4f1d\u5b50\u578b\u306e\u81e8\u5e8a\u50cf\uff08\u518d\u767a\u7387\u3001\u5408\u4f75\u75c7\u306a\u3069\uff09\u3092\u6bd4\u8f03\u691c\u8a0e\u3057\u305f\u91cd\u8981\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Gardner, R.J., et al.<\/strong> (2000). <em>6q24 duplication and transient neonatal diabetes mellitus.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b6q24\u91cd\u8907\u304cTNDM\u306e\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u3001PLAGL1\u907a\u4f1d\u5b50\u306e\u904e\u5270\u767a\u73fe\u304c\u75c5\u614b\u306b\u95a2\u4e0e\u3059\u308b\u3053\u3068\u3092\u793a\u5506\u3057\u305f\u521d\u671f\u306e\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>6q24-Related Transient Neonatal Diabetes Mellitus<\/em>. Initial Posting: 2005; Last Update: 2018. <em>Authors: Temple IK, et al.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u8a3a\u65ad\u57fa\u6e96\u3001\u6700\u65b0\u306e\u7ba1\u7406\u6307\u91dd\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3001\u518d\u767a\u30ea\u30b9\u30af\u306b\u95a2\u3059\u308b\u30c7\u30fc\u30bf\u3092\u7db2\u7f85\u3057\u305f\u3001\u81e8\u5e8a\u73fe\u5834\u3067\u6700\u3082\u4fe1\u983c\u3055\u308c\u308b\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Shield, J.P.<\/strong> (2000). <em>Neonatal diabetes.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u65b0\u751f\u5150\u7cd6\u5c3f\u75c5\u306e\u5206\u985e\u3068\u3001\u4e00\u904e\u6027\uff08TNDM\uff09\u3068\u6c38\u7d9a\u6027\uff08PNDM\uff09\u306e\u9451\u5225\u3001\u9577\u671f\u4e88\u5f8c\u306b\u3064\u3044\u3066\u306e\u30ec\u30d3\u30e5\u30fc\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-17118","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\/17118","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\/17118\/revisions"}],"predecessor-version":[{"id":17120,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17118\/revisions\/17120"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17118"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}