{"id":17390,"date":"2026-01-22T03:30:51","date_gmt":"2026-01-22T03:30:51","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17390"},"modified":"2026-01-22T03:31:38","modified_gmt":"2026-01-22T03:31:38","slug":"monosomy-8p-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/monosomy-8p-syndrome\/","title":{"rendered":"Monosomy 8p 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>8p\u6b20\u5931\u75c7\u5019\u7fa4\uff088p deletion syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>8p\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\uff088p terminal deletion syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>8\u756a\u67d3\u8272\u4f53\u77ed\u8155\u90e8\u5206\u30e2\u30ce\u30bd\u30df\u30fc\uff08Partial monosomy 8p\uff09<\/strong><\/li>\n\n\n\n<li><strong>8p23.1\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\uff088p23.1 microdeletion syndrome\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u6b20\u5931\u306e\u8d77\u70b9\u304c8p23.1\u9818\u57df\u306b\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u3053\u306e\u3088\u3046\u306b\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/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>8\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0923.1\u9818\u57df\u304b\u3089\u672b\u7aef\uff08p-telomere\uff09\u306b\u304b\u3051\u3066\u306e\u5fae\u5c0f\u6b20\u5931<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306f\u30018\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\u306e\u672b\u7aef\u90e8\u5206\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u5931\u308f\u308c\u308b\u7bc4\u56f2\u306e\u5927\u304d\u3055\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u304c\u5909\u308f\u308b\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u4e3b\u8981\u306a\u8cac\u4efb\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>8p23.1\u9818\u57df\u5468\u8fba\u306b\u306f\u3001\u80ce\u5150\u671f\u306e\u81d3\u5668\u5f62\u6210\u3084\u8133\u306e\u767a\u9054\u306b\u4e0d\u53ef\u6b20\u306a\u300c\u53f8\u4ee4\u5854\u300d\u3068\u306a\u308b\u907a\u4f1d\u5b50\u304c\u96c6\u4e2d\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\u306b\u3088\u308a\u3001\u4ee5\u4e0b\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c1\u672c\u5206\u5931\u308f\u308c\u308b\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3053\u3068\u304c\u3001\u81e8\u5e8a\u75c7\u72b6\u306e\u76f4\u63a5\u7684\u306a\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>GATA4\u907a\u4f1d\u5b50 (8p23.1):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6700\u3082\u91cd\u8981\u306a\u8cac\u4efb\u907a\u4f1d\u5b50\u306e\u4e00\u3064\u3067\u3059\u3002\u5fc3\u81d3\u306e\u5f62\u6210\uff08\u7279\u306b\u5fc3\u5ba4\u4e2d\u9694\u3084\u5fc3\u623f\u4e2d\u9694\u3001\u5fc3\u5185\u819c\u5e8a\uff09\u306b\u5fc5\u9808\u306e\u8ee2\u5199\u56e0\u5b50\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306f\u3001\u672c\u75c7\u5019\u7fa4\u306b\u898b\u3089\u308c\u308b\u9ad8\u983b\u5ea6\u306e\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306e\u4e3b\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SOX7\u907a\u4f1d\u5b50 (8p23.1):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u8840\u7ba1\u7cfb\u306e\u767a\u9054\u3084\u3001\u6a2a\u9694\u819c\u306e\u5f62\u6210\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u306e\u5408\u4f75\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>TNKS\u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u69cb\u9020\u7684\u767a\u9054\u3084\u77e5\u7684\u6a5f\u80fd\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>DLGAP2\u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30b7\u30ca\u30d7\u30b9\uff08\u795e\u7d4c\u7d30\u80de\u306e\u63a5\u5408\u90e8\uff09\u306e\u5f62\u6210\u306b\u95a2\u308f\u308a\u3001\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u7684\u50be\u5411\u3084\u767a\u9054\u9045\u6ede\u3068\u306e\u95a2\u9023\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\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>\u7d0430,000\u4eba \u301c 50,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e0c\u5c11\u75be\u60a3:<\/strong> \u4e16\u754c\u7684\u306b\u898b\u3066\u7a00\u306a\u75be\u60a3\u3067\u3059\u304c\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u304b\u3064\u3066\u300c\u539f\u56e0\u4e0d\u660e\u306e\u591a\u767a\u5947\u5f62\u300d\u3068\u3055\u308c\u3066\u3044\u305f\u75c7\u4f8b\u306e\u4e2d\u304b\u3089\u672c\u75c7\u5019\u7fa4\u304c\u8a3a\u65ad\u3055\u308c\u308b\u30b1\u30fc\u30b9\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee:<\/strong> \u6027\u5225\u306b\u3088\u308b\u767a\u75c7\u983b\u5ea6\u306e\u5dee\u306f\u8a8d\u3081\u3089\u308c\u305a\u3001\u7537\u5973\u3068\u3082\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u51fa\u751f\u524d\u8a3a\u65ad:<\/strong> \u5fc3\u75be\u60a3\uff08\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u306a\u3069\uff09\u3092\u304d\u3063\u304b\u3051\u306b\u3001\u80ce\u5150\u671f\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3067\u767a\u898b\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\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>Monosomy 8p syndrome\u306e\u75c7\u72b6\u306f\u3001\u5fc3\u81d3\u3001\u9854\u8c8c\u3001\u7cbe\u795e\u767a\u9054\u306e3\u3064\u306e\u67f1\u3092\u4e2d\u5fc3\u306b\u3001\u5168\u8eab\u306b\u53ca\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08\u7d0480%\u301c90%\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e\u6700\u3082\u91cd\u8981\u304b\u3064\u983b\u5ea6\u306e\u9ad8\u3044\u5408\u4f75\u75c7\u3067\u3059\u3002GATA4\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u6df1\u304f\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09 \/ \u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09:<\/strong> \u6700\u3082\u591a\u304f\u898b\u3089\u308c\u308b\u7570\u5e38\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u623f\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08AVSD\uff09:<\/strong> \u5fc3\u81d3\u306e\u4e2d\u592e\u90e8\u306e\u58c1\u304c\u4f5c\u3089\u308c\u306a\u3044\u3001\u3088\u308a\u8907\u96d1\u306a\u5947\u5f62\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u80ba\u52d5\u8108\u5f01\u72ed\u7a84\u75c7:<\/strong> \u80ba\u3078\u9001\u308b\u8840\u6db2\u306e\u51fa\u53e3\u304c\u72ed\u304f\u306a\u3063\u3066\u3044\u308b\u72b6\u614b\u3002<\/li>\n\n\n\n<li><strong>\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7:<\/strong> \u7d2b\u8272\u306e\u30c1\u30a2\u30ce\u30fc\u30bc\u3092\u4f34\u3046\u91cd\u7be4\u306a\u5fc3\u75be\u60a3\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Facial Dysmorphism\uff09<\/strong><\/p>\n\n\n\n<p>\u8a3a\u65ad\u306e\u793a\u5506\u3068\u306a\u308b\u3044\u304f\u3064\u304b\u306e\u5916\u898b\u7684\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u984d\u306e\u7a81\u51fa\uff08Frontal bossing\uff09:<\/strong> \u984d\u304c\u5e83\u304f\u3001\u524d\u306b\u5f35\u308a\u51fa\u3057\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u773c\u9593\u958b\u96e2\uff08Hypertelorism\uff09:<\/strong> \u4e21\u76ee\u306e\u9593\u9694\u304c\u5e83\u304f\u96e2\u308c\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u5185\u773c\u89d2\u8d05\u76ae:<\/strong> \u76ee\u982d\u306b\u3072\u3060\u304c\u3042\u308b\u3002<\/li>\n\n\n\n<li><strong>\u9f3b:<\/strong> \u9f3b\u6839\u90e8\u304c\u4f4e\u304f\u5e73\u5766\u3067\u3001\u9f3b\u5148\u304c\u4e0a\u3092\u5411\u3044\u3066\u3044\u308b\uff08\u7345\u5b50\u9f3b\u69d8\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8033:<\/strong> \u4f4e\u4f4d\u4ed8\u7740\u8033\uff08\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\uff09\u3001\u3042\u308b\u3044\u306f\u8033\u4ecb\u306e\u5909\u5f62\u3002<\/li>\n\n\n\n<li><strong>\u53e3:<\/strong> \u5f13\u72b6\u306e\u7709\u3001\u3042\u308b\u3044\u306f\u4e0b\u5411\u304d\u306e\u53e3\u89d2\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u795e\u7d4c\u767a\u9054\u3068\u77e5\u7684\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\u30fb\u767a\u9054\u9045\u6ede:<\/strong> \u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c:<\/strong> \u904b\u52d5\u767a\u9054\uff08\u6b69\u884c\u306a\u3069\uff09\u3088\u308a\u3082\u3001\u8a00\u8449\u306e\u7372\u5f97\u306b\u6642\u9593\u304c\u304b\u304b\u308b\u50be\u5411\u304c\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\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027:<\/strong> \u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u7684\u50be\u5411\u3001\u591a\u52d5\u6027\u3001\u885d\u52d5\u6027\u3001\u3042\u308b\u3044\u306f\u9006\u306b\u975e\u5e38\u306b\u7a4f\u3084\u304b\u306a\u6027\u683c\u306a\u3069\u3001\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u305d\u306e\u4ed6\u306e\u8eab\u4f53\u7684\u7570\u5e38<\/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\u5897\u52a0\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2:<\/strong> \u80ba\u3092\u5727\u8feb\u3057\u547c\u5438\u4e0d\u5168\u306e\u539f\u56e0\u3068\u306a\u308b\u91cd\u7be4\u306a\u5408\u4f75\u75c7\uff08\u7d0410%\u301c20%\uff09\u3002<\/li>\n\n\n\n<li><strong>\u6ccc\u5c3f\u751f\u6b96\u5668\u5947\u5f62:<\/strong> \u7537\u5150\u306b\u304a\u3051\u308b\u505c\u7559\u7cbe\u5de3\u3084\u5c3f\u9053\u4e0b\u88c2\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u982d\u75c7:<\/strong> \u8133\u306e\u5bb9\u7a4d\u304c\u5c0f\u3055\u3044\u3053\u3068\u306b\u3088\u308b\u982d\u56f2\u306e\u5c0f\u3055\u3055\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>8p23.1\u4ed8\u8fd1\u304b\u3089\u672b\u7aef\u306b\u304b\u3051\u3066\u306e\u5fae\u5c0f\u6b20\u5931\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u5f62\u5f0f\uff09<\/strong><\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08De novo deletion\uff09\uff1a\u7d0485%<br>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u80da\u767a\u751f\u306e\u521d\u671f\u6bb5\u968e\u3067\u5076\u7136\u306b8p\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\u304c\u751f\u3058\u305f\u3082\u306e\u3067\u3059\u3002\u3053\u308c\u306f\u8ab0\u306e\u305b\u3044\u3067\u3082\u306a\u304f\u3001\u4e88\u9632\u3067\u304d\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3053\u306e\u5834\u5408\u3001\u6b21\u306b\u751f\u307e\u308c\u308b\u304a\u5b50\u69d8\uff08\u304d\u3087\u3046\u3060\u3044\uff09\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u6975\u3081\u3066\u4f4e\u3044\uff081%\u672a\u6e80\uff09\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5747\u8861\u578b\u8ee2\u5ea7\u306e\u7d99\u627f\uff08\u7d0415%\uff09<br>\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u304c\u3001\u91cf\u306f\u6b63\u5e38\u306a\u306e\u3067\u672c\u4eba\u306f\u5065\u5eb7\uff09\u300d\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u6b21\u5b50\u306b\u4e0d\u5747\u8861\u306a\u5f62\u3067\u53d7\u3051\u7d99\u304c\u308c\u3001\u5fae\u5c0f\u6b20\u5931\u304c\u751f\u3058\u308b\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u5834\u5408\u306f\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u3092\u8003\u616e\u3057\u305f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u9006\u4f4d\u91cd\u8907\u6b20\u5931\uff08Inv dup del 8p\uff09<br>8p\u9818\u57df\u3067\u300c\u4e00\u90e8\u304c\u91cd\u8907\u3057\u3001\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u300d\u3068\u3044\u3046\u3088\u308a\u8907\u96d1\u306a\u69cb\u9020\u7570\u5e38\u3092\u4f34\u3046\u5834\u5408\u3082\u3042\u308a\u307e\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\u7684\u306a\u7279\u5fb4\uff08\u7279\u306b\u5fc3\u75be\u60a3\uff09\u304b\u3089\u672c\u75c7\u5019\u7fa4\u3092\u7591\u3044\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<br>\u78ba\u5b9a\u8a3a\u65ad\u306e\u7b2c\u4e00\u9078\u629e\u3067\u3059\u30028p\u9818\u57df\u306e\u3069\u306e\u90e8\u5206\u304c\u3001\u3069\u306e\u304f\u3089\u3044\u306e\u30b5\u30a4\u30ba\u3067\u6b20\u3051\u3066\u3044\u308b\u304b\u3092\u6b63\u78ba\u306b\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u300cGATA4\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u300d\u306a\u3069\u306e\u8a73\u7d30\u306a\u4e88\u5f8c\u4e88\u6e2c\u304c\u53ef\u80fd\u3067\u3059\u3002<\/li>\n\n\n\n<li>FISH\u6cd5:<br>\u7279\u5b9a\u306e8p\u672b\u7aef\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u3066\u3001\u6b20\u5931\u306e\u6709\u7121\u3092\u8996\u899a\u7684\u306b\u78ba\u8a8d\u3057\u307e\u3059\u3002\u89aa\u306e\u67d3\u8272\u4f53\u69cb\u6210\u3092\u8abf\u3079\u308b\u969b\u306b\u3082\u6709\u7528\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb:<br>\u8a3a\u65ad\u78ba\u5b9a\u5f8c\u3001\u3042\u308b\u3044\u306f\u7591\u308f\u308c\u305f\u6642\u70b9\u3067\u3001\u5fc3\u75be\u60a3\u306e\u6709\u7121\u3068\u8a73\u7d30\u3092\u8a55\u4fa1\u3059\u308b\u305f\u3081\u306b\u5fc5\u9808\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8179\u90e8\u30fb\u80f8\u90e8\u30ec\u30f3\u30c8\u30b2\u30f3\u30fb\u30a8\u30b3\u30fc:<br>\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u3084\u814e\u5947\u5f62\u306e\u691c\u7d22\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\u306e\u533b\u5b66\u306b\u304a\u3044\u3066\u3001\u67d3\u8272\u4f53\u306e\u6b20\u5931\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6cbb\u7642\u306e\u4e3b\u773c\u306f\u3001\u5fc3\u75be\u60a3\u3078\u306e\u5bfe\u5fdc\u3068\u3001\u5404\u75c7\u72b6\u306b\u5bfe\u3059\u308b**\u300c\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5bfe\u75c7\u7642\u6cd5\u300d**\u306b\u7f6e\u304b\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5fc3\u81d3\u5916\u79d1\u7684\u6cbb\u7642\uff08\u6700\u512a\u5148\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5916\u79d1\u7684\u624b\u8853:<\/strong> \u5148\u5929\u6027\u5fc3\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u3001\u591a\u304f\u306f\u4e73\u5e7c\u5150\u671f\u306b\u5916\u79d1\u7684\u306a\u77ef\u6b63\u624b\u8853\uff08\u30b7\u30e3\u30f3\u30c8\u8853\u3001\u6839\u6cbb\u8853\u306a\u3069\uff09\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002\u5fc3\u81d3\u306e\u72b6\u614b\u304c\u5b89\u5b9a\u3059\u308b\u3053\u3068\u304c\u3001\u305d\u306e\u5f8c\u306e\u767a\u9054\u306b\u304a\u3044\u3066\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u547c\u5438\u30fb\u6804\u990a\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u306e\u4eba\u5de5\u547c\u5438\u7ba1\u7406\u3068\u5916\u79d1\u7684\u4fee\u5fa9\u8853\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u3088\u308a\u54fa\u4e73\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\u3001\u7d4c\u7ba1\u6804\u990a\u306a\u3069\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u767a\u9054\u652f\u63f4\u30fb\u7642\u80b2\uff08\u65e9\u671f\u4ecb\u5165\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u304a\u3088\u3073\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u904b\u52d5\u767a\u9054\u9045\u6ede\u306b\u5bfe\u3059\u308b\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09:<\/strong> \u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u65e9\u671f\u304b\u3089\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4\uff08\u30b5\u30a4\u30f3\u3001\u7d75\u30ab\u30fc\u30c9\u306a\u3069\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5225\u652f\u63f4\u6559\u80b2:<\/strong> \u77e5\u7684\u30ec\u30d9\u30eb\u3084\u500b\u3005\u306e\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u500b\u5225\u306e\u6559\u80b2\u652f\u63f4\u8a08\u753b\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>\u773c\u79d1\u30fb\u8033\u9f3b\u79d1:<\/strong> \u659c\u8996\u3001\u5c48\u6298\u7570\u5e38\u3001\u96e3\u8074\u306e\u30c1\u30a7\u30c3\u30af\u3002<\/li>\n\n\n\n<li><strong>\u5185\u5206\u6ccc\u79d1:<\/strong> \u6210\u9577\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u4e0d\u5168\u306a\u3069\u306e\u6210\u9577\u969c\u5bb3\u306e\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c<\/strong><\/h2>\n\n\n\n<p>\u4e88\u5f8c\u306f\u5408\u4f75\u75c7\u3001\u7279\u306b<strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306e\u91cd\u75c7\u5ea6\u3068\u3001\u624b\u8853\u306e\u6210\u529f\u306e\u53ef\u5426<\/strong>\u306b\u5927\u304d\u304f\u5de6\u53f3\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u81d3\u306e\u624b\u8853\u304c\u6210\u529f\u3057\u3001\u9069\u5207\u306a\u5468\u7523\u671f\u7ba1\u7406\u304c\u884c\u308f\u308c\u308c\u3070\u3001\u591a\u304f\u306e\u65b9\u304c\u6210\u4eba\u671f\u3092\u8fce\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u306b\u5bfe\u3057\u3066\u306f\u9577\u671f\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u304c\u3001\u9069\u5207\u306a\u7642\u80b2\u306b\u3088\u308a\u305d\u308c\u305e\u308c\u306e\u30da\u30fc\u30b9\u3067\u6210\u9577\u3057\u3001\u793e\u4f1a\u53c2\u52a0\u3092\u76ee\u6307\u3059\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>Monosomy 8p syndrome\uff088p\u30e2\u30ce\u30bd\u30df\u30fc\u75c7\u5019\u7fa4\uff09\u306f\u30018\u756a\u67d3\u8272\u4f53\u306e\u672b\u7aef\u306b\u3042\u308b\u300c\u5fc3\u81d3\u3092\u4f5c\u308b\u300d\u300c\u8133\u306e\u767a\u9054\u3092\u4fc3\u3059\u300d\u3068\u3044\u3063\u305f\u5927\u5207\u306a\u8a2d\u8a08\u56f3\uff08\u907a\u4f1d\u5b50\uff09\u304c\u3001\u307b\u3093\u306e\u308f\u305a\u304b\u306b\u5931\u308f\u308c\u308b\u5fae\u5c0f\u6b20\u5931\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u5fc3\u81d3\u306b\u58c1\u306e\u7a74\uff08\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u306a\u3069\uff09\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u751f\u307e\u308c\u3066\u3059\u3050\u3001\u3042\u308b\u3044\u306f\u4e73\u5150\u671f\u306b\u5fc3\u81d3\u306e\u624b\u8853\u3092\u5fc5\u8981\u3068\u3059\u308b\u3053\u3068\u304c\u3053\u306e\u75c5\u6c17\u306e\u5927\u304d\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u3068\u304d\u3001\u3054\u5bb6\u65cf\u306f\u5c06\u6765\u3078\u306e\u4e0d\u5b89\u3092\u611f\u3058\u3089\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u73fe\u5728\u306f\u5c0f\u5150\u79d1\u3001\u5fc3\u81d3\u5916\u79d1\u3001\u305d\u3057\u3066\u767a\u9054\u306e\u5c02\u9580\u5bb6\u304c\u30c1\u30fc\u30e0\u3092\u7d44\u3093\u3067\u3001\u304a\u5b50\u69d8\u3092\u591a\u89d2\u7684\u306b\u30b5\u30dd\u30fc\u30c8\u3067\u304d\u308b\u4f53\u5236\u304c\u6574\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5fc3\u81d3\u306e\u72b6\u614b\u304c\u843d\u3061\u7740\u3051\u3070\u3001\u3086\u3063\u304f\u308a\u3067\u3059\u304c\u78ba\u5b9f\u306b\u767a\u9054\u306e\u30b9\u30c6\u30c3\u30d7\u3092\u767b\u3063\u3066\u3044\u304d\u307e\u3059\u3002\u304a\u5b50\u69d8\u306e\u6b69\u5e45\u306b\u5408\u308f\u305b\u305f\u6210\u9577\u3092\u3001\u533b\u7642\u30c1\u30fc\u30e0\u3068\u5171\u306b\u9577\u304f\u6e29\u304b\u304f\u652f\u3048\u3066\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>Claeys, I., et al.<\/strong> (1997). <em>A terminal deletion of 8p23.1: case report and review of the literature.<\/em> Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff088p\u672b\u7aef\u6b20\u5931\u306e\u81e8\u5e8a\u50cf\u3092\u6574\u7406\u3057\u3001\u75c7\u5019\u7fa4\u3068\u3057\u3066\u5b9a\u7fa9\u3057\u305f\u521d\u671f\u306e\u91cd\u8981\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Pehlivan, T., et al.<\/strong> (1999). <em>GATA4 haploinsufficiency deficiency causes congenital heart defects in 8p23.1 deletion syndrome.<\/em> American Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08GATA4\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u5fc3\u75be\u60a3\u306e\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u8a3c\u660e\u3057\u305f\u753b\u671f\u7684\u306a\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Bhatia, S., et al.<\/strong> (1999). <em>The 8p23.1 deletion syndrome.<\/em> Clinical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u9854\u8c8c\u7684\u7279\u5fb4\u3084\u767a\u9054\u9045\u6ede\u3092\u542b\u3080\u3001\u81e8\u5e8a\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3092\u8a73\u8ff0\u3057\u305f\u6587\u732e\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Wat, M. J., et al.<\/strong> (2009). <em>23.1 microdeletion syndrome: clinical and molecular characterization.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u89e3\u6790\u3092\u7528\u3044\u305f\u6700\u65b0\u306e\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u8a3a\u65ad\u306b\u95a2\u3059\u308b\u5831\u544a\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>8p23.1 Microdeletion Syndrome<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u6700\u65b0\u306e\u533b\u5b66\u7684\u77e5\u898b\u306b\u57fa\u3065\u304f\u8a3a\u65ad\u30fb\u7ba1\u7406\u30fb\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u6a19\u6e96\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>8p deletions: terminal deletions: A guide for families<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u3001\u3054\u5bb6\u65cf\u5411\u3051\u306e\u5b9f\u8df5\u7684\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Orphanet<\/strong>: <em>8p23.1 microdeletion syndrome (ORPHA:251025)<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u75be\u60a3\u306e\u56fd\u969b\u7684\u306a\u30dd\u30fc\u30bf\u30eb\u30b5\u30a4\u30c8\u306b\u3088\u308b\u75c5\u614b\u6982\u8981\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-17390","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\/17390","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\/17390\/revisions"}],"predecessor-version":[{"id":17393,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17390\/revisions\/17393"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17390"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}