{"id":17341,"date":"2026-01-22T02:42:23","date_gmt":"2026-01-22T02:42:23","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17341"},"modified":"2026-01-22T02:42:23","modified_gmt":"2026-01-22T02:42:23","slug":"jacobsen-syndrome-jbs","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/jacobsen-syndrome-jbs\/","title":{"rendered":"Jacobsen syndrome (JBS)"},"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>11q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\uff0811q terminal deletion disorder\uff09<\/strong><\/li>\n\n\n\n<li><strong>11q-\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>\u30d1\u30ea\u30fb\u30eb\u30bd\u30fc\u75c7\u5019\u7fa4\uff08Paris-Trousseau syndrome; PTS\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u30e4\u30b3\u30d6\u30bb\u30f3\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u306e\u591a\u304f\uff08\u7d0490%\u4ee5\u4e0a\uff09\u306b\u898b\u3089\u308c\u308b\u3001\u7279\u5fb4\u7684\u306a\u8840\u5c0f\u677f\u7570\u5e38\uff08\u51fa\u8840\u50be\u5411\uff09\u3092\u6307\u3059\u75c5\u540d\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>JBS<\/strong><\/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>11\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0923.3\u9818\u57df\u304b\u3089\u672b\u7aef\uff08telomere\uff09\u306b\u304b\u3051\u3066\u306e\u6b20\u5931<\/strong><\/p>\n\n\n\n<p>\u30e4\u30b3\u30d6\u30bb\u30f3\u75c7\u5019\u7fa4\u306f\u300111\u756a\u67d3\u8272\u4f53\u306e\u4e00\u65b9\u306e\u672b\u7aef\u90e8\u5206\u304c\u5931\u308f\u308c\u308b\u300c\u90e8\u5206\u30e2\u30ce\u30bd\u30df\u30fc\u300d\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u6b20\u5931\u7bc4\u56f2\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b20\u5931\u306e\u8d77\u70b9:<\/strong> \u591a\u304f\u306e\u5834\u5408\u300111q23.3\u9818\u57df\u306b\u5b58\u5728\u3059\u308b\u300cFRA11B\u300d\u3068\u3044\u3046\u8106\u5f31\u90e8\u4f4d\uff08\u58ca\u308c\u3084\u3059\u3044\u5834\u6240\uff09\u304b\u3089\u672b\u7aef\u306b\u5411\u304b\u3063\u3066\u6b20\u5931\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5931\u308f\u308c\u308b\u907a\u4f1d\u5b50\u6570:<\/strong> \u6b20\u5931\u306e\u30b5\u30a4\u30ba\u306f\u75c7\u4f8b\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u901a\u5e38\u306f\u7d047Mb\u304b\u308920Mb\uff08\u30e1\u30ac\u30d9\u30fc\u30b9\uff09\u306b\u53ca\u3073\u307e\u3059\u3002\u3053\u306e\u9818\u57df\u306b\u306f\u7d04170\u500b\u304b\u3089340\u500b\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u304c\u4e00\u5ea6\u306b\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u3001\u591a\u7cfb\u7d71\u306b\u308f\u305f\u308b\u8907\u96d1\u306a\u75c7\u72b6\uff08\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4\uff09\u304c\u73fe\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8cac\u4efb\u907a\u4f1d\u5b50\u306e\u4f8b:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong><em>FLI1<\/em><\/strong><strong>\u907a\u4f1d\u5b50:<\/strong> \u8840\u5c0f\u677f\u306e\u5f62\u6210\uff08\u30d1\u30ea\u30fb\u30eb\u30bd\u30fc\u75c7\u5019\u7fa4\uff09\u306b\u95a2\u4e0e\u3002<\/li>\n\n\n\n<li><strong><em>BSX<\/em><\/strong><strong>, <\/strong><strong><em>NRGN<\/em><\/strong><strong>, <\/strong><strong><em>ETS1<\/em><\/strong><strong>\u907a\u4f1d\u5b50:<\/strong> \u8133\u306e\u767a\u9054\u3084\u8a8d\u77e5\u6a5f\u80fd\u306b\u95a2\u4e0e\u3002<\/li>\n\n\n\n<li><strong><em>BARX2<\/em><\/strong><strong>\u907a\u4f1d\u5b50:<\/strong> \u9854\u9762\u306e\u5f62\u6210\u306b\u95a2\u4e0e\u3002<\/li>\n\n\n\n<li><strong><em>JAM3<\/em><\/strong><strong>\u907a\u4f1d\u5b50:<\/strong> \u5fc3\u81d3\u306e\u5f62\u6210\u306b\u95a2\u4e0e\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u7d04100,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e0c\u5c11\u75be\u60a3:<\/strong> \u4e16\u754c\u5168\u4f53\u3067\u6570\u767e\u4f8b\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u8efd\u75c7\u4f8b\u3084\u8a3a\u65ad\u672a\u78ba\u5b9a\u4f8b\u3092\u542b\u3081\u308b\u3068\u3001\u5b9f\u969b\u306b\u306f\u3053\u308c\u3088\u308a\u591a\u3044\u53ef\u80fd\u6027\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee:<\/strong> \u5973\u6027\u306e\u65b9\u304c\u7537\u6027\u3088\u308a\u3082\u591a\u304f\u767a\u75c7\u3059\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\uff08\u5973\u6027\uff1a\u7537\u6027 \uff1d \u7d042\uff1a1\uff09\u3002<\/li>\n\n\n\n<li><strong>\u751f\u5b58\u7387:<\/strong> \u304b\u3064\u3066\u306f\u4e73\u5e7c\u5150\u671f\u306e\u4e88\u5f8c\u304c\u53b3\u3057\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u73fe\u4ee3\u306e\u5fc3\u81d3\u5916\u79d1\u624b\u8853\u3084\u5468\u7523\u671f\u7ba1\u7406\u306e\u5411\u4e0a\u306b\u3088\u308a\u3001\u591a\u304f\u306e\u65b9\u304c\u6210\u4eba\u671f\u3092\u8fce\u3048\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>JBS\u306e\u75c7\u72b6\u306f\u591a\u5c90\u306b\u308f\u305f\u308a\u3001\u8eab\u4f53\u7684\u7279\u5fb4\u3001\u8a8d\u77e5\u6a5f\u80fd\u3001\u305d\u3057\u3066\u751f\u547d\u306b\u95a2\u308f\u308b\u5185\u81d3\u5408\u4f75\u75c7\u304c\u542b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\u30fb\u8eab\u4f53\u7684\u6240\u898b<\/strong><\/p>\n\n\n\n<p>\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308b\u5171\u901a\u306e\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u90e8:<\/strong> \u4e09\u89d2\u982d\u84cb\uff08\u524d\u982d\u90e8\u304c\u7a81\u51fa\u3057\u305f\u5f62\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u524d\u982d\u7e2b\u5408\u306e\u65e9\u671f\u9589\u9396\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u76ee:<\/strong> \u773c\u9593\u958b\u96e2\uff08\u4e21\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3001\u5185\u773c\u89d2\u8d05\u76ae\u3001\u773c\u77bc\u4e0b\u5782\u3002<\/li>\n\n\n\n<li><strong>\u8033\u30fb\u9f3b:<\/strong> \u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\uff08\u4f4e\u4f4d\u4ed8\u7740\u8033\uff09\u3001\u9f3b\u6839\u90e8\u304c\u5e73\u5766\u3001\u9f3b\u5148\u304c\u4e0a\u3092\u5411\u3044\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u53e3:<\/strong> \u9bc9\u306e\u3088\u3046\u306a\u5f62\u306e\u53e3\uff08\u4e0b\u5411\u304d\u306e\u53e3\u89d2\uff09\u3001\u5c0f\u984e\u75c7\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u30d1\u30ea\u30fb\u30eb\u30bd\u30fc\u75c7\u5019\u7fa4\uff08\u8840\u6db2\u5b66\u7684\u7570\u5e38\uff09<\/strong><\/p>\n\n\n\n<p>JBS\u306e\u6700\u3082\u7279\u5fb4\u7684\u306a\u5408\u4f75\u75c7\u3067\u3042\u308a\u3001<strong>\u60a3\u8005\u306e90%\u4ee5\u4e0a<\/strong>\u306b\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8840\u5c0f\u677f\u6e1b\u5c11\u75c7:<\/strong> \u751f\u307e\u308c\u305f\u6642\u304b\u3089\u8840\u5c0f\u677f\u306e\u6570\u304c\u5c11\u306a\u304f\u3001\u51fa\u8840\u3057\u3084\u3059\u3044\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8840\u5c0f\u677f\u6a5f\u80fd\u7570\u5e38:<\/strong> \u6570\u3060\u3051\u3067\u306a\u304f\u3001\u8840\u5c0f\u677f\u306e\u4e2d\u306b\u3042\u308b\u300c\u03b1\u9846\u7c92\u300d\u304c\u5de8\u5927\u5316\u30fb\u6e1b\u5c11\u3057\u3066\u304a\u308a\u3001\u6b62\u8840\u6a5f\u80fd\u304c\u5341\u5206\u306b\u50cd\u304d\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u75c7\u72b6:<\/strong> \u9f3b\u8840\u304c\u51fa\u3084\u3059\u3044\u3001\u9752\u3042\u3056\u304c\u3067\u304d\u3084\u3059\u3044\u3001\u624b\u8853\u6642\u3084\u602a\u6211\u306e\u969b\u306e\u6b62\u8840\u56f0\u96e3\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5148\u5929\u6027\u5fc3\u75be\u60a3<\/strong><\/p>\n\n\n\n<p>\u7d0456%\u306e\u60a3\u8005\u306b\u5fc3\u81d3\u306e\u69cb\u9020\u7570\u5e38\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5de6\u5fc3\u4f4e\u5f62\u6210\u75c7\u5019\u7fa4\uff08HLHS\uff09:<\/strong> \u6700\u3082\u91cd\u7be4\u306a\u5408\u4f75\u75c7\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u3001\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09<\/strong><\/li>\n\n\n\n<li>\u5927\u52d5\u8108\u7e2e\u7a84\u75c7\u3001\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7<br>\u3053\u308c\u3089\u306f\u51fa\u751f\u76f4\u5f8c\u306e\u751f\u547d\u4e88\u5f8c\u306b\u76f4\u7d50\u3059\u308b\u305f\u3081\u3001\u65e9\u671f\u306e\u8a3a\u65ad\u3068\u6cbb\u7642\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u77e5\u7684\u767a\u9054\u30fb\u884c\u52d5\u306e\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u6ede:<\/strong> \u307b\u3068\u3093\u3069\u306e\u60a3\u8005\u306b\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3:<\/strong> \u77e5\u80fd\u6307\u6570\uff08IQ\uff09\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3067\u3059\u304c\u3001\u591a\u304f\u306f\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u306e\u7bc4\u56f2\u306b\u7559\u307e\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027:<\/strong> \u6ce8\u610f\u6b20\u9665\u591a\u52d5\u75c7\uff08ADHD\uff09\u306e\u3088\u3046\u306a\u591a\u52d5\u6027\u3084\u3001\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u306b\u4f3c\u305f\u5bfe\u4eba\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u56f0\u96e3\u3055\u3001\u3053\u3060\u308f\u308a\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/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>\u6210\u9577\u969c\u5bb3:<\/strong> \u8eab\u9577\u30fb\u4f53\u91cd\u3068\u3082\u306b\u6210\u9577\u304c\u3086\u3063\u304f\u308a\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6ccc\u5c3f\u751f\u6b96\u5668\u7570\u5e38:<\/strong> \u814e\u6b20\u640d\u3001\u505c\u7559\u7cbe\u5de3\uff08\u7537\u5150\uff09\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u7684\u7570\u5e38:<\/strong> \u659c\u8996\u3001\u9060\u8996\u3001\u8996\u795e\u7d4c\u4f4e\u5f62\u6210\u3002<\/li>\n\n\n\n<li><strong>\u514d\u75ab\u4e0d\u5168:<\/strong> \u6297\u4f53\u7523\u751f\u80fd\u304c\u4f4e\u304f\u3001\u4e2d\u8033\u708e\u3084\u526f\u9f3b\u8154\u708e\u306a\u3069\u306e\u611f\u67d3\u75c7\u3092\u7e70\u308a\u8fd4\u3057\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5185\u5206\u6ccc\u7570\u5e38:<\/strong> \u6210\u9577\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u4e0d\u5168\u306a\u3069\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\u672b\u7aef\u9818\u57df\u306e\u6b20\u5931\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u5f62\u5f0f\u3060\u304c\u3001\u591a\u304f\u306f\u65b0\u751f\u5909\u7570\uff09<\/strong><\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08\u7d0485%\uff09:<br>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u53d7\u7cbe\u5375\u304c\u5f62\u6210\u3055\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u80da\u767a\u751f\u306e\u521d\u671f\u6bb5\u968e\u3067\u5076\u7136\u306b11\u756a\u67d3\u8272\u4f53\u304c\u6298\u308c\u3066\u6b20\u5931\u304c\u751f\u3058\u308b\u30b1\u30fc\u30b9\u3067\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u6975\u3081\u3066\u4f4e\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5747\u8861\u578b\u8ee2\u5ea7\u4fdd\u56e0\u8005\u304b\u3089\u306e\u7d99\u627f\uff08\u7d0415%\uff09:<br>\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u300c11\u756a\u67d3\u8272\u4f53\u3092\u542b\u3080\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u907a\u4f1d\u5b50\u306e\u7dcf\u91cf\u306f\u5909\u308f\u3089\u306a\u3044\u304c\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u72b6\u614b\uff09\u300d\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3067\u3059\u3002\u3053\u306e\u89aa\u304b\u3089\u4e0d\u5747\u8861\u306a\u914d\u5076\u5b50\u304c\u53d7\u3051\u7d99\u304c\u308c\u308b\u3068JBS\u3092\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308b\u305f\u3081\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ol>\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\u7591\u3044\u3001\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u30fb\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3057\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\u9855\u5fae\u93e1\u691c\u67fb\u306711\u756a\u67d3\u8272\u4f53\u306e\u672b\u7aef\u304c\u77ed\u304f\u306a\u3063\u3066\u3044\u308b\u3053\u3068\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\u67d3\u8272\u4f53\u672b\u7aef\u306b\u7279\u7570\u7684\u306a\u30d7\u30ed\u30fc\u30d6\uff08\u5149\u308b\u30e9\u30d9\u30eb\uff09\u3092\u7528\u3044\u3001\u6b20\u5931\u306e\u6709\u7121\u3092\u8fc5\u901f\u306b\u5224\u5b9a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<br>\u73fe\u5728\u306e**\u30b4\u30fc\u30eb\u30c7\u30f3\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff08\u6a19\u6e96\u691c\u67fb\uff09**\u3067\u3059\u3002\u6b20\u5931\u306e\u6b63\u78ba\u306a\u4f4d\u7f6e\u3068\u30b5\u30a4\u30ba\u3001\u5931\u308f\u308c\u3066\u3044\u308b\u907a\u4f1d\u5b50\u306e\u7a2e\u985e\u3092\u8a73\u7d30\u306b\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u500b\u3005\u306e\u60a3\u8005\u306e\u5c06\u6765\u7684\u306a\u30ea\u30b9\u30af\u4e88\u6e2c\uff08\u5fc3\u7b4b\u75c7\u306e\u306a\u308a\u3084\u3059\u3055\u306a\u3069\uff09\u304c\u53ef\u80fd\u306b\u306a\u308a\u3064\u3064\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8d85\u97f3\u6ce2\u691c\u67fb\uff08\u5fc3\u30a8\u30b3\u30fc\u3001\u8179\u90e8\u30a8\u30b3\u30fc\uff09:<br>\u8a3a\u65ad\u78ba\u5b9a\u5f8c\u3001\u901f\u3084\u304b\u306b\u5fc3\u5947\u5f62\u3084\u814e\u5947\u5f62\u306e\u6709\u7121\u3092\u691c\u7d22\u3057\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5\u30fb\u7ba1\u7406<\/strong><\/h2>\n\n\n\n<p>JBS\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5305\u62ec\u7684\u306a\u7ba1\u7406\u304c\u3001\u4e88\u5f8c\u3068QOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u3092\u5927\u304d\u304f\u6539\u5584\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u8840\u6db2\u5b66\u7684\u7ba1\u7406\uff08\u6700\u91cd\u8981\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u51fa\u8840\u4e88\u9632:<\/strong> \u30d1\u30ea\u30fb\u30eb\u30bd\u30fc\u75c7\u5019\u7fa4\u306b\u3088\u308b\u51fa\u8840\u50be\u5411\u3092\u5e38\u306b\u5ff5\u982d\u306b\u7f6e\u304f\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u624b\u8853\u6642\u306e\u5bfe\u5fdc:<\/strong> \u5fc3\u81d3\u624b\u8853\u3084\u6b6f\u79d1\u6cbb\u7642\u306e\u524d\u306b\u306f\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u8840\u5c0f\u677f\u8f38\u8840\u3084\u30c7\u30b9\u30e2\u30d7\u30ec\u30b7\u30f3\u6295\u4e0e\u3001\u6b62\u8840\u5264\u306e\u6e96\u5099\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u65e5\u5e38\u751f\u6d3b:<\/strong> \u6fc0\u3057\u3044\u30b3\u30f3\u30bf\u30af\u30c8\u30b9\u30dd\u30fc\u30c4\u3092\u907f\u3051\u308b\u3001\u8840\u5c0f\u677f\u6a5f\u80fd\u3092\u963b\u5bb3\u3059\u308b\u85ac\u5264\uff08\u30a2\u30b9\u30d4\u30ea\u30f3\u3084\u4e00\u90e8\u306eNSAIDs\uff09\u306e\u4f7f\u7528\u3092\u63a7\u3048\u308b\u306a\u3069\u306e\u6307\u5c0e\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \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\u306b\u5bfe\u3057\u3001\u6bb5\u968e\u7684\u306a\u5916\u79d1\u6cbb\u7642\uff08\u30b7\u30e3\u30f3\u30c8\u8853\u3001\u30d5\u30a9\u30f3\u30bf\u30f3\u624b\u8853\u306a\u3069\uff09\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u982d\u84cb\u9aa8\u5f62\u6210\u8853:<\/strong> \u4e09\u89d2\u982d\u84cb\u306b\u3088\u308a\u8133\u306e\u5727\u8feb\u304c\u61f8\u5ff5\u3055\u308c\u308b\u5834\u5408\u3001\u8133\u795e\u7d4c\u5916\u79d1\u306b\u3088\u308b\u5f62\u6210\u624b\u8853\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u767a\u9054\u652f\u63f4\u30fb\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u4ecb\u5165:<\/strong> \u4e73\u5e7c\u5150\u671f\u304b\u3089\u306e\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5225\u306a\u6559\u80b2:<\/strong> \u8a8d\u77e5\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u652f\u63f4\u5b66\u7d1a\u3084\u7279\u5225\u652f\u63f4\u5b66\u6821\u306e\u6d3b\u7528\u3002<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7642\u6cd5:<\/strong> \u591a\u52d5\u3084\u30d1\u30cb\u30c3\u30af\u306a\u3069\u306e\u884c\u52d5\u8ab2\u984c\u306b\u5bfe\u3057\u3001\u5c02\u9580\u5bb6\u306b\u3088\u308b\u884c\u52d5\u7642\u6cd5\u3084\u74b0\u5883\u8abf\u6574\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u7d99\u7d9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8074\u529b\u30fb\u8996\u529b:<\/strong> \u5b9a\u671f\u7684\u306a\u691c\u67fb\u306b\u3088\u308b\u88dc\u5b8c\uff08\u773c\u93e1\u3084\u88dc\u8074\u5668\u306e\u4f7f\u7528\uff09\u3002<\/li>\n\n\n\n<li><strong>\u7532\u72b6\u817a\u6a5f\u80fd\u30fb\u514d\u75ab\u6a5f\u80fd:<\/strong> \u8840\u6db2\u691c\u67fb\u306b\u3088\u308b\u5b9a\u671f\u30c1\u30a7\u30c3\u30af\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u7ba1\u7406:<\/strong> \u51fa\u8840\u50be\u5411\u306b\u914d\u616e\u3057\u3064\u3064\u3001\u866b\u6b6f\u4e88\u9632\u3092\u5fb9\u5e95\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u751f\u5b58\u671f\u9593:<\/strong> \u304b\u3064\u3066\u306f\u91cd\u7be4\u306a\u5fc3\u75be\u60a3\u306b\u3088\u308b\u65e9\u671f\u6b7b\u4ea1\u304c\u898b\u3089\u308c\u307e\u3057\u305f\u304c\u3001\u73fe\u4ee3\u3067\u306f\u6210\u4eba\u307e\u3067\u5b58\u547d\u3059\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u4e16\u754c\u4e2d\u306b\u306f\u591a\u304f\u306e\u6210\u4eba\u60a3\u8005\u304c\u304a\u308a\u3001\u4ed5\u4e8b\u3084\u8da3\u5473\u3092\u697d\u3057\u3093\u3067\u3044\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u751f\u6d3b\u306e\u8cea:<\/strong> \u8840\u5c0f\u677f\u306e\u7ba1\u7406\u3068\u6559\u80b2\u7684\u30b5\u30dd\u30fc\u30c8\u304c\u5145\u5b9f\u3057\u3066\u3044\u308c\u3070\u3001\u826f\u597d\u306aQOL\u3092\u7dad\u6301\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\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>Jacobsen syndrome\uff08\u30e4\u30b3\u30d6\u30bb\u30f3\u75c7\u5019\u7fa4\uff09\u306f\u300111\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u3001\u5fc3\u81d3\u3084\u8840\u6db2\u3001\u767a\u9054\u306a\u3069\u5168\u8eab\u306b\u5f71\u97ff\u304c\u53ca\u3076\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u300c\u30d1\u30ea\u30fb\u30eb\u30bd\u30fc\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u51fa\u8840\u3057\u3084\u3059\u3044\u7279\u6027\u3092\u6301\u3063\u3066\u3044\u308b\u305f\u3081\u3001\u65e5\u3005\u306e\u751f\u6d3b\u3084\u533b\u7642\u51e6\u7f6e\u306b\u304a\u3044\u3066\u300c\u51fa\u8840\u3078\u306e\u914d\u616e\u300d\u304c\u9375\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u544a\u77e5\u3092\u53d7\u3051\u305f\u3054\u5bb6\u65cf\u306f\u3001\u5fc3\u75be\u60a3\u3084\u767a\u9054\u306e\u9045\u308c\u3068\u3044\u3063\u305f\u8a00\u8449\u306b\u4e0d\u5b89\u3092\u899a\u3048\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u73fe\u5728\u306e\u533b\u7642\u306f\u3053\u306e\u75c5\u6c17\u306e\u7279\u5fb4\u3092\u6df1\u304f\u7406\u89e3\u3057\u3066\u304a\u308a\u3001\u4e00\u3064\u3072\u3068\u3064\u306e\u5408\u4f75\u75c7\u306b\u5bfe\u3057\u3066\u9069\u5207\u306a\u5bfe\u7b56\u3092\u7acb\u3066\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u69d8\u306f\u3001\u3086\u3063\u304f\u308a\u3067\u3059\u304c\u78ba\u5b9f\u306b\u81ea\u5206\u81ea\u8eab\u306e\u30da\u30fc\u30b9\u3067\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002\u5c0f\u5150\u79d1\u3001\u8840\u6db2\u5185\u79d1\u3001\u5fc3\u81d3\u8840\u7ba1\u5916\u79d1\u3001\u305d\u3057\u3066\u6559\u80b2\u30fb\u798f\u7949\u306e\u5c02\u9580\u5bb6\u305f\u3061\u304c\u30c1\u30fc\u30e0\u3068\u306a\u308a\u3001\u304a\u5b50\u69d8\u3068\u3054\u5bb6\u65cf\u3092\u652f\u3048\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u540c\u3058\u75be\u60a3\u3092\u6301\u3064\u5bb6\u65cf\u4f1a\uff08\u7c73\u56fd\u7b49\u306b\u306f\u5927\u898f\u6a21\u306a\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u304c\u3042\u308a\u307e\u3059\uff09\u3068\u306e\u7e4b\u304c\u308a\u3092\u6301\u3064\u3053\u3068\u3082\u3001\u5927\u304d\u306a\u52a9\u3051\u3068\u306a\u308b\u3067\u3057\u3087\u3046\u3002\u67d3\u8272\u4f53\u306e\u6b20\u5931\u306f\u3001\u305d\u306e\u5b50\u306e\u300c\u56f3\u9762\u300d\u306e\u4e00\u90e8\u306b\u904e\u304e\u307e\u305b\u3093\u3002\u305d\u306e\u5b50\u81ea\u8eab\u306e\u500b\u6027\u3068\u7b11\u9854\u3092\u5927\u5207\u306b\u3001\u4e00\u6b69\u305a\u3064\u9032\u3093\u3067\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Jacobsen, P., et al.<\/strong> (1973). <em>11q23 deletion: a new human delection syndrome.<\/em> Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u30da\u30c8\u30e9\u30fb\u30e4\u30b3\u30d6\u30bb\u30f3\u535a\u58eb\u3089\u306b\u3088\u308b\u6700\u521d\u306e\u75c7\u4f8b\u5831\u544a\u3002\u672c\u75c7\u5019\u7fa4\u306e\u5b9a\u7fa9\u3068\u306a\u3063\u305f\u8ad6\u6587\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Mattina, T., et al.<\/strong> (2009). <em>Jacobsen syndrome: An update on clinical and genetic aspects.<\/em> American Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u81e8\u5e8a\u50cf\u3068\u907a\u4f1d\u5b66\u306b\u95a2\u3059\u308b\u5305\u62ec\u7684\u306a\u30ec\u30d3\u30e5\u30fc\u3002\u8a3a\u65ad\u3068\u7ba1\u7406\u306e\u8981\u70b9\u304c\u307e\u3068\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Grossfeld, P. D., et al.<\/strong> (2004). <em>The 11q terminal deletion disorder: a prospective study of 110 cases.<\/em> American Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08110\u4f8b\u306e\u5927\u898f\u6a21\u306a\u524d\u65b9\u8996\u7684\u7814\u7a76\u3002\u5fc3\u5947\u5f62\u3084\u767a\u9054\u9045\u6ede\u306e\u983b\u5ea6\u3092\u7d71\u8a08\u7684\u306b\u793a\u3057\u3066\u3044\u307e\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Favier, R., et al.<\/strong> (2003). <em>Paris-Trousseau syndrome: clinical, hematological, and genetic aspects.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u30d1\u30ea\u30fb\u30eb\u30bd\u30fc\u75c7\u5019\u7fa4\uff08\u8840\u5c0f\u677f\u7570\u5e38\uff09\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3068\u7ba1\u7406\u306b\u95a2\u3059\u308b\u5c02\u9580\u7684\u306a\u6587\u732e\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Jacobsen Syndrome<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u6700\u65b0\u306e\u5206\u5b50\u907a\u4f1d\u5b66\u3001\u8a3a\u65ad\u3001\u7ba1\u7406\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3092\u7db2\u7f85\u3057\u305f\u4e16\u754c\u7684\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>Jacobsen Syndrome (11q deletion): A guide for families<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\u306e\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u3001\u3054\u5bb6\u65cf\u5411\u3051\u306e\u308f\u304b\u308a\u3084\u3059\u3044\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>11q Research &amp; Resource Group<\/strong>: <em>Clinical Management Guidelines<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u30e4\u30b3\u30d6\u30bb\u30f3\u75c7\u5019\u7fa4\u306b\u7279\u5316\u3057\u305f\u7814\u7a76\u30b0\u30eb\u30fc\u30d7\u306b\u3088\u308b\u8a3a\u7642\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002\uff09<\/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-17341","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\/17341","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\/17341\/revisions"}],"predecessor-version":[{"id":17343,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17341\/revisions\/17343"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17341"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}