{"id":17310,"date":"2026-01-22T02:10:57","date_gmt":"2026-01-22T02:10:57","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17310"},"modified":"2026-01-22T08:17:04","modified_gmt":"2026-01-22T08:17:04","slug":"emanuel-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/emanuel-syndrome\/","title":{"rendered":"Emanuel 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><strong>\u30a8\u30de\u30cb\u30e5\u30a8\u30eb\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>\u6d3e\u751f22\u756a\u67d3\u8272\u4f53\u75c7\u5019\u7fa4\uff08Der(22) syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u4e0d\u5747\u886111\/22\u8ee2\u5ea7\uff08Unbalanced 11\/22 translocation\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u90e8\u520611\/22\u30c8\u30ea\u30bd\u30df\u30fc\uff08Partial trisomy 11\/22\uff09<\/strong><\/li>\n\n\n\n<li><strong>22\u756a\u6d3e\u751f\u67d3\u8272\u4f53\u306b\u3088\u308b3\u67d3\u8272\u4f53\u6027\uff08Supernumerary der(22) syndrome\uff09<\/strong><\/li>\n<\/ul>\n\n\n\n<p>\u304b\u3064\u3066\u306f\u300c\u6d3e\u751f22\u756a\u67d3\u8272\u4f53\u75c7\u5019\u7fa4\u300d\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3057\u305f\u304c\u3001\u3053\u306e\u67d3\u8272\u4f53\u7570\u5e38\u3092\u8a73\u7d30\u306b\u5b9a\u7fa9\u3057\u305f\u30a8\u30de\u30cb\u30e5\u30a8\u30eb\u535a\u58eb\u306e\u540d\u3092\u51a0\u3057\u3001\u73fe\u5728\u306f\u300c\u30a8\u30de\u30cb\u30e5\u30a8\u30eb\u75c7\u5019\u7fa4\u300d\u3068\u547c\u79f0\u3055\u308c\u308b\u306e\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>11\u756a\u67d3\u8272\u4f53\u9577\u8155\uff08q\uff0923\u9818\u57df\u304a\u3088\u307322\u756a\u67d3\u8272\u4f53\u9577\u8155\uff08q\uff0911\u9818\u57df\u306e\u91cd\u8907<\/strong><\/p>\n\n\n\n<p>\u30a8\u30de\u30cb\u30e5\u30a8\u30eb\u75c7\u5019\u7fa4\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001\u901a\u5e38\u306e46\u672c\u306e\u67d3\u8272\u4f53\u306b\u52a0\u3048\u3066\u3001<strong>\u300c\u6d3e\u751f22\u756a\u67d3\u8272\u4f53\uff08der(22)\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u5c0f\u3055\u306a\u4f59\u5206\u306a\u67d3\u8272\u4f53<\/strong>\u304c1\u672c\u5b58\u5728\u3057\u3001\u5408\u8a0847\u672c\uff08\u30b9\u30fc\u30d1\u30fc\u30cc\u30e1\u30cc\u30e9\u30ea\u30fc\uff0f\u4f59\u5270\u67d3\u8272\u4f53\uff09\u3068\u306a\u3063\u3066\u3044\u308b\u70b9\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u300c\u6d3e\u751f22\u756a\u67d3\u8272\u4f53\u300d\u306b\u306f\u4ee5\u4e0b\u306e\u9818\u57df\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>22\u756a\u67d3\u8272\u4f53\u306e\u8fd1\u4f4d\u90e8\uff0822q10\u301c22q11\uff09<\/strong><\/li>\n\n\n\n<li><strong>11\u756a\u67d3\u8272\u4f53\u306e\u9060\u4f4d\u90e8\uff0811q23\u301c11qter\uff09<\/strong><\/li>\n<\/ol>\n\n\n\n<p>\u3053\u306e2\u3064\u306e\u9818\u57df\u304c\u91cd\u8907\uff08\u30c8\u30ea\u30bd\u30df\u30fc\uff09\u3057\u3066\u3044\u308b\u3053\u3068\u306b\u3088\u308a\u3001\u305d\u308c\u305e\u308c\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u304c\u904e\u5270\u306b\u767a\u73fe\u3057\u3001\u591a\u7cfb\u7d71\u306b\u308f\u305f\u308b\u5148\u5929\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\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>\u6b63\u78ba\u306a\u983b\u5ea6\u306f\u4e0d\u660e\uff08\u6975\u3081\u3066\u7a00\uff09<\/strong><\/p>\n\n\n\n<p>\u4e16\u754c\u4e2d\u3067\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u6b63\u78ba\u306a\u51fa\u751f\u983b\u5ea6\u306f\u7d71\u8a08\u7684\u306b\u78ba\u5b9a\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3053\u308c\u307e\u3067\u306b\u6570\u767e\u4f8b\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u8fd1\u5e74\u306e\u30b2\u30ce\u30e0\u89e3\u6790\u6280\u8853\uff08\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u306a\u3069\uff09\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u8a3a\u65ad\u3055\u308c\u308b\u75c7\u4f8b\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u75c7\u5019\u7fa4\u306e\u307b\u307c\u5168\u3066\u306e\u75c7\u4f8b\u306b\u304a\u3044\u3066\u3001\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c**\u300c11\u756a\u306822\u756a\u306e\u5747\u8861\u578b\u76f8\u4e92\u8ee2\u5ea7\uff08t(11;22)(q23;q11)\uff09\u300d\u306e\u4fdd\u56e0\u8005**\u3067\u3042\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u7279\u5b9a\u306e\u8ee2\u5ea7\u306f\u3001\u4eba\u985e\u306b\u304a\u3044\u3066\u6700\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u975e\u30ed\u30d0\u30fc\u30c8\u30bd\u30f3\u578b\u8ee2\u5ea7\u306e\u4e00\u3064\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\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>\u30a8\u30de\u30cb\u30e5\u30a8\u30eb\u75c7\u5019\u7fa4\u306f\u3001\u8eab\u4f53\u7684\u7279\u5fb4\u3001\u7cbe\u795e\u767a\u9054\u306e\u9045\u6ede\u3001\u304a\u3088\u3073\u5185\u81d3\u306e\u5408\u4f75\u75c7\u3092\u4f34\u3046\u591a\u7cfb\u7d71\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5168\u822c\u7684\u306a\u767a\u9054\u30fb\u77e5\u7684\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u30fb\u767a\u9054\u9045\u6ede:<\/strong> \u307b\u307c\u5168\u3066\u306e\u75c7\u4f8b\u3067\u3001\u904b\u52d5\u304a\u3088\u3073\u8a8d\u77e5\u6a5f\u80fd\u306e\u8457\u3057\u3044\u767a\u9054\u9045\u6ede\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c:<\/strong> \u8a00\u8449\u306b\u3088\u308b\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u7372\u5f97\u306f\u975e\u5e38\u306b\u56f0\u96e3\u306a\u5834\u5408\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u8eab\u632f\u308a\u3084\u30b5\u30a4\u30f3\u306a\u3069\u3067\u306e\u610f\u601d\u758e\u901a\u304c\u53ef\u80fd\u306a\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09:<\/strong> \u4e73\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306e\u4e00\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\u30fb\u8eab\u4f53\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<p>\u5916\u898b\u4e0a\u306e\u7279\u5fb4\u306f\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u984e\u75c7\uff08Micrognathia\uff09:<\/strong> \u4e0b\u3042\u3054\u304c\u975e\u5e38\u306b\u5c0f\u3055\u3044\u3002<\/li>\n\n\n\n<li><strong>\u8033\u306e\u7570\u5e38:<\/strong> \u8033\u4ecb\u304c\u5c0f\u3055\u304f\u5f62\u304c\u72ec\u7279\u3067\u3042\u308b\u3001\u8033\u306e\u524d\u306b\u5c0f\u3055\u306a\u7a74\uff08\u8033\u524d\u763b\u5b54\uff09\u3084\u3001\u5c0f\u3055\u306a\u3044\u307c\u306e\u3088\u3046\u306a\u7a81\u8d77\uff08\u8033\u524d\u7a81\u8d77\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3002<\/li>\n\n\n\n<li><strong>\u53e3\u84cb\u306e\u7570\u5e38:<\/strong> \u9ad8\u53e3\u84cb\uff08\u53e3\u306e\u4e2d\u306e\u5929\u4e95\u304c\u9ad8\u3044\uff09\u3001\u3042\u308b\u3044\u306f\u53e3\u84cb\u88c2\u3002<\/li>\n\n\n\n<li><strong>\u9854\u7acb\u3061:<\/strong> \u984d\u304c\u5e83\u304f\u3001\u773c\u77bc\u88c2\u659c\u4e0b\uff08\u30bf\u30ec\u76ee\uff09\u3001\u9f3b\u6839\u90e8\u304c\u5e73\u5766\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u3055\u306a\u624b\u8db3:<\/strong> \u624b\u8db3\u306e\u6307\u304c\u7d30\u3044\u3001\u3042\u308b\u3044\u306f\u95a2\u7bc0\u306e\u62d8\u7e2e\uff08\u56fa\u307e\u308a\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5148\u5929\u6027\u5947\u5f62\u304a\u3088\u3073\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08\u7d0450%\u4ee5\u4e0a\uff09:<\/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\u3001\u751f\u547d\u4e88\u5f8c\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u5408\u4f75\u75c7\u304c\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6ccc\u5c3f\u751f\u6b96\u5668\u5947\u5f62:<\/strong> \u814e\u6b20\u640d\u3001\u591a\u56a2\u80de\u6027\u7570\u5f62\u6210\u814e\u3001\u7537\u5150\u306b\u304a\u3051\u308b\u505c\u7559\u7cbe\u5de3\u3084\u9670\u56a2\u306e\u7570\u5e38\u3002<\/li>\n\n\n\n<li><strong>\u6d88\u5316\u5668\u7cfb\u306e\u7570\u5e38:<\/strong> \u9396\u809b\u3084\u3001\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u7570\u5e38:<\/strong> \u8133\u6881\u6b20\u640d\u3084\u8133\u5ba4\u62e1\u5927\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u611f\u899a\u5668\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u96e3\u8074:<\/strong> \u4f1d\u97f3\u6027\u96e3\u8074\u307e\u305f\u306f\u611f\u97f3\u6027\u96e3\u8074\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u304f\u3001\u65e9\u671f\u306e\u8074\u529b\u691c\u67fb\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8996\u899a\u7570\u5e38:<\/strong> \u659c\u8996\u3084\u3001\u8996\u795e\u7d4c\u306e\u4f4e\u5f62\u6210\u304c\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>11\u756a\u67d3\u8272\u4f53\u306822\u756a\u67d3\u8272\u4f53\u306e\u4e0d\u5747\u8861\u8ee2\u5ea7\u306e\u7d99\u627f<\/strong><\/p>\n\n\n\n<p>\u30a8\u30de\u30cb\u30e5\u30a8\u30eb\u75c7\u5019\u7fa4\u306e\u6839\u672c\u7684\u306a\u539f\u56e0\u306f\u3001\u914d\u5076\u5b50\uff08\u7cbe\u5b50\u307e\u305f\u306f\u5375\u5b50\uff09\u304c\u4f5c\u3089\u308c\u308b\u969b\u306e\u300c\u6e1b\u6570\u5206\u88c2\u300d\u306e\u30df\u30b9\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30e1\u30ab\u30cb\u30ba\u30e0\u306e\u8a73\u7d30\uff1a3:1\u5206\u96e2<\/strong><\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u89aa\u306e\u80cc\u666f:<\/strong> \u7247\u65b9\u306e\u89aa\u304c\u300c11\u756a\u67d3\u8272\u4f53\u306822\u756a\u67d3\u8272\u4f53\u306e\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u89aa\u81ea\u8eab\u306f\u907a\u4f1d\u5b50\u306e\u904e\u4e0d\u8db3\u304c\u306a\u3044\u305f\u3081\u3001\u5168\u304f\u306e\u5065\u5eb7\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5206\u96e2\u306e\u7570\u5e38:<\/strong> \u5747\u8861\u578b\u8ee2\u5ea7\u3092\u6301\u3064\u89aa\u306e\u4f53\u5185\u3067\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u969b\u3001\u901a\u5e38\u306f2\u5bfe2\u3067\u5206\u304b\u308c\u308b\u67d3\u8272\u4f53\u304c\u3001\u7279\u6b8a\u306a\u300c3:1\u5206\u96e2\u300d\u3068\u3044\u3046\u5f62\u3092\u3068\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u53d7\u7cbe:<\/strong> \u3053\u306e\u7d50\u679c\u3001\u6b63\u5e38\u306a11\u756a\u306822\u756a\u306b\u52a0\u3048\u3066\u3001\u8ee2\u5ea7\u306b\u3088\u3063\u3066\u3067\u304d\u305f\u5c0f\u3055\u306a\u300c\u6d3e\u751f22\u756a\u67d3\u8272\u4f53\u300d\u304c\u542b\u307e\u308c\u305f\u914d\u5076\u5b50\u304c\u53d7\u7cbe\u3059\u308b\u3068\u3001\u5b50\u4f9b\u306f\u30a8\u30de\u30cb\u30e5\u30a8\u30eb\u75c7\u5019\u7fa4\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u203b\u7a00\u306b\u300c\u65b0\u751f\uff08De novo\uff09\u5909\u7570\u300d\u3068\u3057\u3066\u3001\u89aa\u304c\u8ee2\u5ea7\u3092\u6301\u305f\u306a\u3044\u30b1\u30fc\u30b9\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u6975\u3081\u3066\u7a00\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u81e8\u5e8a\u75c7\u72b6\u304b\u3089\u672c\u75c7\u5019\u7fa4\u3092\u7591\u3063\u305f\u5834\u5408\u3001\u4ee5\u4e0b\u306e\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u6838\u578b\u5206\u6790\uff08G\u30d0\u30f3\u30c9\u5206\u67d3\u6cd5\uff09:<br>\u901a\u5e38\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3067\u3059\u300247\u756a\u76ee\u306e\u5c0f\u3055\u306a\u67d3\u8272\u4f53\uff08\u30de\u30fc\u30ab\u30fc\u67d3\u8272\u4f53\uff09\u306e\u5b58\u5728\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>FISH\u6cd5\uff08\u86cd\u5149\u30a4\u30f3\u30b5\u30a4\u30c1\u30e5\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff09:<br>11\u756a\u306822\u756a\u306e\u7279\u5b9a\u306e\u9818\u57df\u306b\u5149\u308b\u30e9\u30d9\u30eb\u3092\u8cbc\u308a\u3001\u4f59\u5206\u306a\u67d3\u8272\u4f53\u304c\u3069\u3053\u306e\u7531\u6765\u304b\u3092\u7279\u5b9a\u3057\u307e\u3059\u3002\u30a8\u30de\u30cb\u30e5\u30a8\u30eb\u75c7\u5019\u7fa4\u306e\u78ba\u5b9a\u8a3a\u65ad\u306b\u304a\u3044\u3066\u975e\u5e38\u306b\u6709\u52b9\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<br>\u30b2\u30ce\u30e0\u306e\u904e\u4e0d\u8db3\u3092\u6570\u4e07\u30ab\u6240\u4ee5\u4e0a\u30b9\u30ad\u30e3\u30f3\u3057\u300111q23\u306822q11\u306e\u91cd\u8907\u3092\u6b63\u78ba\u306b\u5b9a\u91cf\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb:<br>\u304a\u5b50\u69d8\u306b\u30a8\u30de\u30cb\u30e5\u30a8\u30eb\u75c7\u5019\u7fa4\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u3001\u89aa\u304c\u8ee2\u5ea7\u4fdd\u56e0\u8005\u3067\u3042\u308b\u304b\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u306f\u3001\u5c06\u6765\u306e\u5bb6\u65cf\u8a08\u753b\uff08\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\u306e\u5224\u5b9a\uff09\u306b\u304a\u3044\u3066\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u73fe\u4ee3\u533b\u5b66\u306b\u304a\u3044\u3066\u3001\u4f59\u5206\u306a\u67d3\u8272\u4f53\u3092\u53d6\u308a\u9664\u304f\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6cbb\u7642\u306e\u4e3b\u773c\u306f\u3001**\u300c\u5408\u4f75\u75c7\u306e\u7ba1\u7406\u300d<strong>\u3068<\/strong>\u300c\u767a\u9054\u306e\u6700\u5927\u5316\u300d**\u306b\u7f6e\u304b\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u81d3\u624b\u8853:<\/strong> \u5148\u5929\u6027\u5fc3\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u3001\u4e73\u5e7c\u5150\u671f\u306b\u5916\u79d1\u7684\u77ef\u6b63\u8853\u3084\u59d1\u606f\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u53e3\u84cb\u88c2\u306e\u624b\u8853:<\/strong> \u54fa\u4e73\u3084\u8a00\u8a9e\u767a\u9054\u306e\u305f\u3081\u306b\u3001\u9069\u5207\u306a\u6642\u671f\u306b\u5f62\u6210\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8033\u9f3b\u79d1\u7684\u624b\u8853:<\/strong> \u8033\u524d\u763b\u5b54\u306e\u611f\u67d3\u3092\u7e70\u308a\u8fd4\u3059\u5834\u5408\u306a\u3069\u306e\u5207\u9664\u8853\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5185\u79d1\u7684\u30fb\u767a\u9054\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6442\u98df\u652f\u63f4:<\/strong> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u5c0f\u984e\u75c7\u306b\u3088\u308a\u3001\u8d64\u3061\u3083\u3093\u306e\u6642\u671f\u306b\u54fa\u4e73\u304c\u56f0\u96e3\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u7d4c\u7ba1\u6804\u990a\uff08\u9f3b\u30c1\u30e5\u30fc\u30d6\u3084\u80c3\u763b\uff09\u306e\u6d3b\u7528\u3001\u8a00\u8a9e\u8074\u899a\u58eb\u306b\u3088\u308b\u56a5\u4e0b\u8a13\u7df4\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u96e3\u8074\u3078\u306e\u5bfe\u5fdc:<\/strong> \u88dc\u8074\u5668\u306e\u65e9\u671f\u88c5\u7528\u3084\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u7642\u80b2\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\u7ba1\u7406:<\/strong> \u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u898b\u3089\u308c\u308b\u305f\u3081\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u7ba1\u7406\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/strong><\/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\u306b\u5bfe\u3059\u308b\u30a2\u30d7\u30ed\u30fc\u30c1\u3084\u3001\u59ff\u52e2\u4fdd\u6301\u3001\u904b\u52d5\u767a\u9054\u306e\u652f\u63f4\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u624b\u5148\u306e\u6a5f\u80fd\u3084\u904a\u3073\u3092\u901a\u3058\u305f\u767a\u9054\u652f\u63f4\u3001\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u306e\u5de5\u592b\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<\/strong> \u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\uff08\u30b5\u30a4\u30f3\u3001\u7d75\u30ab\u30fc\u30c9\u3001\u8996\u7dda\u5165\u529b\u88c5\u7f6e\u306a\u3069\uff09\u306e\u6a21\u7d22\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>\u89aa\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3001\u6b21\u5b50\u3067\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u7d046\uff05\u7a0b\u5ea6\u3068\u898b\u7a4d\u3082\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u5c06\u6765\u306e\u598a\u5a20\u306b\u304a\u3051\u308b\u51fa\u751f\u524d\u8a3a\u65ad\u306e\u9078\u629e\u80a2\u306a\u3069\u3092\u542b\u3081\u3001\u5c02\u9580\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3084\u533b\u5e2b\u306b\u3088\u308b\u4e01\u5be7\u306a\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c<\/strong><\/h2>\n\n\n\n<p>\u304b\u3064\u3066\u306f\u91cd\u7be4\u306a\u5408\u4f75\u75c7\u306b\u3088\u308a\u4e88\u5f8c\u4e0d\u826f\u3068\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3057\u305f\u304c\u3001\u73fe\u4ee3\u306e\u5c0f\u5150\u533b\u7642\uff08\u5fc3\u81d3\u5916\u79d1\u3084\u5468\u7523\u671f\u7ba1\u7406\uff09\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u591a\u304f\u306e\u60a3\u8005\u69d8\u304c\u6210\u4eba\u671f\u307e\u3067\u6210\u9577\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u305f\u3081\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u751f\u6d3b\u652f\u63f4\u304c\u5fc5\u8981\u3067\u3059\u304c\u3001\u7a4f\u3084\u304b\u3067\u5bb6\u65cf\u3068\u306e\u3075\u308c\u3042\u3044\u3092\u5927\u5207\u306b\u3059\u308b\u6027\u683c\u306e\u65b9\u304c\u591a\u3044\u3053\u3068\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u611f\u67d3\u75c7\uff08\u7279\u306b\u80ba\u708e\uff09\u3092\u8d77\u3053\u3057\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u5065\u5eb7\u7ba1\u7406\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>Emanuel syndrome\uff08\u30a8\u30de\u30cb\u30e5\u30a8\u30eb\u75c7\u5019\u7fa4\uff09\u306f\u300111\u756a\u306822\u756a\u306e\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u91cd\u8907\u3057\u3066\u751f\u307e\u308c\u3066\u304f\u308b\u3001\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u91cd\u3044\u969c\u5bb3\u300d\u3068\u3044\u3046\u8a00\u8449\u306b\u3001\u3054\u5bb6\u65cf\u306f\u6700\u521d\u3001\u6df1\u3044\u6238\u60d1\u3044\u3084\u60b2\u3057\u307f\u3092\u611f\u3058\u3089\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u672c\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u305f\u3061\u306f\u3001\u305d\u308c\u305e\u308c\u304c\u72ec\u81ea\u306e\u30da\u30fc\u30b9\u3067\u4e00\u6b69\u305a\u3064\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5927\u5207\u306a\u306e\u306f\u3001\u5fc3\u81d3\u3084\u8033\u306a\u3069\u306e\u5408\u4f75\u75c7\u3092\u4e00\u3064\u3072\u3068\u3064\u4e01\u5be7\u306b\u898b\u5b88\u308a\u3001\u65e9\u671f\u304b\u3089\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3084\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u3068\u7e4b\u304c\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u306f\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3092\u901a\u3058\u3066\u3001\u4e16\u754c\u4e2d\u306e\u30a8\u30de\u30cb\u30e5\u30a8\u30eb\u75c7\u5019\u7fa4\u306e\u5bb6\u65cf\u4f1a\uff08Emanuel Syndrome Advocacy Group\u306a\u3069\uff09\u3068\u7e4b\u304c\u308b\u3053\u3068\u304c\u3067\u304d\u3001\u7d4c\u9a13\u3084\u60c5\u5831\u3092\u5171\u6709\u3067\u304d\u308b\u6642\u4ee3\u3067\u3059\u3002\u304a\u5b50\u69d8\u306e\u6301\u3064\u53ef\u80fd\u6027\u3092\u4fe1\u3058\u3001\u591a\u8077\u7a2e\u306e\u533b\u7642\u30c1\u30fc\u30e0\u3068\u5171\u306b\u6b69\u3093\u3067\u3044\u304f\u3053\u3068\u304c\u3001\u304a\u5b50\u69d8\u3068\u3054\u5bb6\u65cf\u306e\u8c4a\u304b\u306a\u751f\u6d3b\u3078\u3068\u7e4b\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Emanuel, B. S., et al. (2004). The Emanuel syndrome: over 25 years of clinical and molecular studies of the t(11;22). American Journal of Medical Genetics Part A.<br>\uff08\u30a8\u30de\u30cb\u30e5\u30a8\u30eb\u535a\u58eb\u672c\u4eba\u306b\u3088\u308b\u300125\u5e74\u9593\u306e\u81e8\u5e8a\u7814\u7a76\u3092\u307e\u3068\u3081\u305f\u6700\u3082\u6a29\u5a01\u3042\u308b\u8ad6\u6587\u3067\u3059\uff09<\/li>\n\n\n\n<li>Carter, M. T., et al. (2009). The Emanuel syndrome: update on the clinical phenotype. American Journal of Medical Genetics.<br>\uff08\u81e8\u5e8a\u7684\u7279\u5fb4\u306e\u591a\u69d8\u6027\u306b\u3064\u3044\u3066\u8a73\u7d30\u306b\u5831\u544a\u3057\u305f\u91cd\u8981\u6587\u732e\u3067\u3059\uff09<\/li>\n\n\n\n<li>Ohye, T., et al. (2010). Emanuel syndrome: a review of the literature and report of a Japanese case.<br>\uff08\u65e5\u672c\u306b\u304a\u3051\u308b\u75c7\u4f8b\u5831\u544a\u3068\u3001\u672c\u75c7\u5019\u7fa4\u306e\u6587\u732e\u7684\u30ec\u30d3\u30e5\u30fc\uff09<\/li>\n\n\n\n<li>Emanuel Syndrome Advocacy Group (ESAG): Family Support and Information Guide. (https:\/\/emanuelsyndrome.org\/)<br>\uff08\u4e16\u754c\u6700\u5927\u306e\u5bb6\u65cf\u4f1a\u306b\u3088\u308b\u3001\u5b9f\u751f\u6d3b\u306b\u5373\u3057\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\uff09<\/li>\n\n\n\n<li>Unique (Rare Chromosome Disorder Support Group): Emanuel Syndrome. (https:\/\/www.rarechromo.org\/)<br>\uff08\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\u306e\u30b5\u30dd\u30fc\u30c8\u56e3\u4f53\u306b\u3088\u308b\u5305\u62ec\u7684\u306a\u60c5\u5831\u30b7\u30fc\u30c8\uff09<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Emanuel Syndrome<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u533b\u5b66\u7684\u306a\u6700\u65b0\u306e\u8a3a\u65ad\u3001\u7ba1\u7406\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u95a2\u3059\u308b\u6a19\u6e96\u7684\u306a\u30ea\u30d5\u30a1\u30ec\u30f3\u30b9\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>OMIM (Online Mendelian Inheritance in Man): #609029 EMANUEL SYNDROME.<br>\uff08\u907a\u4f1d\u5b50\u5ea7\u3001\u5206\u5b50\u907a\u4f1d\u5b66\u3001\u81e8\u5e8a\u75c7\u4f8b\u3092\u7db2\u7f85\u3057\u305f\u5b66\u8853\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\uff09<\/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-17310","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\/17310","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\/17310\/revisions"}],"predecessor-version":[{"id":17593,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17310\/revisions\/17593"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17310"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}