{"id":17385,"date":"2026-01-22T03:27:21","date_gmt":"2026-01-22T03:27:21","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17385"},"modified":"2026-01-22T03:27:21","modified_gmt":"2026-01-22T03:27:21","slug":"monosomy-7","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/monosomy-7\/","title":{"rendered":"Monosomy 7"},"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>7\u756a\u67d3\u8272\u4f53\u5358\u4f53\u6027<\/strong><\/li>\n\n\n\n<li><strong>\u22127\uff08\u30de\u30a4\u30ca\u30b9\u30bb\u30d6\u30f3\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u5c0f\u5150\u9aa8\u9ac4\u7570\u5f62\u6210\u75c7\u5019\u7fa4\uff08MDS\uff09\u306b\u4f34\u30467\u30e2\u30ce\u30bd\u30df\u30fc<\/strong><\/li>\n\n\n\n<li><strong>GATA2\u6b20\u640d\u75c7\uff08GATA2 deficiency\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u751f\u6b96\u7d30\u80de\u7cfb\u5217\u306e\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308a\u3001\u7d9a\u767a\u7684\u306bMonosomy 7\u3092\u6765\u3059\u4ee3\u8868\u7684\u306a\u75be\u60a3\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SAMD9\/SAMD9L\u95a2\u9023\u75be\u60a3\uff08MIRAGE\u75c7\u5019\u7fa4\u306a\u3069\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u5909\u7570\u3092\u6301\u3064\u5834\u5408\u3001\u9020\u8840\u5e79\u7d30\u80de\u304cMonosomy 7\u3092\u9078\u629e\u7684\u306b\u8d77\u3053\u3059\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\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>7\u756a\u67d3\u8272\u4f53 \u5168\u4f53\uff08\u307e\u305f\u306f\u9577\u8155\u306e\u5e83\u7bc4\u306a\u6b20\u5931\uff09<\/strong><\/p>\n\n\n\n<p>\u901a\u5e38\u3001\u30d2\u30c8\u306e\u7d30\u80de\u306b\u306f2\u672c\u306e7\u756a\u67d3\u8272\u4f53\u304c\u3042\u308a\u307e\u3059\u304c\u3001Monosomy 7\u3067\u306f\u3053\u308c\u304c1\u672c\u3057\u304b\u5b58\u5728\u3057\u307e\u305b\u3093\u3002\u9020\u8840\u7d30\u80de\u306b\u304a\u3044\u3066\u767a\u751f\u3059\u308b\u5834\u5408\u30017\u756a\u67d3\u8272\u4f53\u5168\u4f53\u304c\u5931\u308f\u308c\u308b\u300c\u5b8c\u5168\u30e2\u30ce\u30bd\u30df\u30fc\u300d\u3068\u3001\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u5927\u90e8\u5206\u304c\u5931\u308f\u308c\u308b\u300c\u90e8\u5206\u30e2\u30ce\u30bd\u30df\u30fc\uff087q-\uff09\u300d\u304c\u3001\u81e8\u5e8a\u7684\u306b\u306f\u307b\u307c\u540c\u7b49\u306e\u75c5\u614b\u3068\u3057\u3066\u6271\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u75c5\u614b\u30e1\u30ab\u30cb\u30ba\u30e0\u3011<\/p>\n\n\n\n<p>7\u756a\u67d3\u8272\u4f53\u306b\u306f\u3001\u9020\u8840\uff08\u8840\u3092\u4f5c\u308b\u30d7\u30ed\u30bb\u30b9\uff09\u3084\u7d30\u80de\u306e\u5897\u6b96\u5236\u5fa1\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u591a\u6570\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>7q22\u30017q31-36\u9818\u57df:<\/strong> \u3053\u308c\u3089\u306e\u9818\u57df\u306b\u306f\u300c\u304c\u3093\u6291\u5236\u907a\u4f1d\u5b50\u300d\u304c\u4f4d\u7f6e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u304a\u308a\u3001\u3053\u3053\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u7d30\u80de\u306e\u5897\u6b96\u6291\u5236\u304c\u52b9\u304b\u306a\u304f\u306a\u308a\u3001\u816b\u760d\u5316\uff08\u767d\u8840\u75c5\u5316\uff09\u304c\u9032\u307f\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30cf\u30d7\u30ed\u4e0d\u5168:<\/strong> \u907a\u4f1d\u5b50\u304c1\u672c\u5206\u306b\u306a\u308b\u3053\u3068\u3067\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7523\u751f\u91cf\u304c\u4e0d\u8db3\u3057\u3001\u9aa8\u9ac4\u5185\u3067\u306e\u6b63\u5e38\u306a\u8840\u6db2\u7d30\u80de\u306e\u5206\u5316\u304c\u59a8\u3052\u3089\u308c\u307e\u3059\u3002<\/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>\u5c0f\u5150\u9aa8\u9ac4\u7570\u5f62\u6210\u75c7\u5019\u7fa4\uff08MDS\uff09\u60a3\u8005\u306e\u7d0410%\u301c25%<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9aa8\u9ac4\u4e0d\u5168\u30fb\u767d\u8840\u75c5\u306b\u304a\u3051\u308b\u983b\u5ea6:<\/strong> \u5c0f\u5150\u306e\u9aa8\u9ac4\u7570\u5f62\u6210\u75c7\u5019\u7fa4\uff08MDS\uff09\u3084\u6025\u6027\u767d\u8840\u75c5\uff08AML\uff09\u306b\u304a\u3044\u3066\u3001\u6700\u3082\u983b\u7e41\u306b\u8a8d\u3081\u3089\u308c\u308b\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u7570\u5e38\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5148\u5929\u6027\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308b\u983b\u5ea6:<\/strong> \u907a\u4f1d\u6027\u306e\u9aa8\u9ac4\u4e0d\u5168\u75c7\u5019\u7fa4\uff08\u30d5\u30a1\u30f3\u30b3\u30cb\u8ca7\u8840\u3001GATA2\u6b20\u640d\u75c7\u306a\u3069\uff09\u3092\u6301\u3064\u60a3\u8005\u3067\u306f\u3001\u7d4c\u904e\u4e2d\u306bMonosomy 7\u304c\u51fa\u73fe\u3059\u308b\u30ea\u30b9\u30af\u304c\u975e\u5e38\u306b\u9ad8\u304f\u3001\u3053\u308c\u306f\u300c\u767d\u8840\u75c5\u5316\u306e\u524d\u5146\u300d\u3068\u3057\u3066\u53b3\u91cd\u306b\u76e3\u8996\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee\u30fb\u4eba\u7a2e:<\/strong> \u6027\u5225\u3084\u4eba\u7a2e\u306b\u3088\u308b\u660e\u78ba\u306a\u983b\u5ea6\u306e\u5dee\u306f\u8a8d\u3081\u3089\u308c\u3066\u3044\u307e\u305b\u3093\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 7\u305d\u306e\u3082\u306e\u304c\u76f4\u63a5\u5f15\u304d\u8d77\u3053\u3059\u75c7\u72b6\u3068\u3001\u305d\u308c\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u8840\u6db2\u75be\u60a3\uff08MDS\/\u767d\u8840\u75c5\uff09\u306e\u75c7\u72b6\u306b\u5206\u3051\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u8840\u6db2\u5b66\u7684\u75c7\u72b6\uff08\u4e3b\u75c7\u72b6\uff09<\/strong><\/p>\n\n\n\n<p>Monosomy 7\u306f\u9020\u8840\u5e79\u7d30\u80de\u306e\u7570\u5e38\u3067\u3042\u308b\u305f\u3081\u3001\u6b63\u5e38\u306a\u8840\u7403\u304c\u4f5c\u3089\u308c\u306a\u304f\u306a\u308b\u300c\u6c4e\u8840\u7403\u6e1b\u5c11\u300d\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8ca7\u8840:<\/strong> \u9178\u7d20\u3092\u904b\u3076\u8d64\u8840\u7403\u304c\u6e1b\u308a\u3001\u9854\u8272\u306e\u4e0d\u826f\u3001\u52d5\u60b8\u3001\u606f\u5207\u308c\u3001\u5f37\u3044\u5026\u6020\u611f\u304c\u73fe\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6613\u611f\u67d3\u6027:<\/strong> \u30d0\u30a4\u83cc\u3068\u6226\u3046\u767d\u8840\u7403\uff08\u597d\u4e2d\u7403\uff09\u304c\u6e1b\u308a\u3001\u9ad8\u71b1\u3092\u4f34\u3046\u611f\u67d3\u75c7\u3092\u7e70\u308a\u8fd4\u3057\u305f\u308a\u3001\u91cd\u75c7\u5316\u3057\u3084\u3059\u304f\u306a\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u51fa\u8840\u50be\u5411:<\/strong> \u8840\u3092\u6b62\u3081\u308b\u8840\u5c0f\u677f\u304c\u6e1b\u308a\u3001\u9f3b\u8840\u3001\u6b6f\u8089\u51fa\u8840\u3001\u76ae\u819a\u306e\u70b9\u72b6\u51fa\u8840\uff08\u9752\u3042\u3056\uff09\u304c\u6cbb\u308a\u306b\u304f\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u524d\u767d\u8840\u75c5\u72b6\u614b\u30fb\u767d\u8840\u75c5\u5316<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9aa8\u9ac4\u7570\u5f62\u6210:<\/strong> \u9aa8\u9ac4\u306e\u4e2d\u3067\u300c\u8cea\u306e\u60aa\u3044\u7d30\u80de\u300d\u304c\u5897\u3048\u3001\u3053\u308c\u3089\u304c\u6570\u30f6\u6708\u304b\u3089\u6570\u5e74\u306e\u30b9\u30d1\u30f3\u3067\u6025\u6fc0\u306b\u5897\u6b96\u3059\u308b\u300c\u6025\u6027\u9aa8\u9ac4\u6027\u767d\u8840\u75c5\uff08AML\uff09\u300d\u3078\u79fb\u884c\u3057\u307e\u3059\u3002Monosomy 7\u3092\u4f34\u3046\u5834\u5408\u3001\u3053\u306e\u79fb\u884c\u30b9\u30d4\u30fc\u30c9\u304c\u975e\u5e38\u306b\u65e9\u3044\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5148\u5929\u6027\u75be\u60a3\u3092\u80cc\u666f\u3068\u3059\u308b\u5834\u5408\u306e\u8eab\u4f53\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<p>Monosomy 7\u304c\u300cGATA2\u6b20\u640d\u75c7\u300d\u3084\u300cMIRAGE\u75c7\u5019\u7fa4\u300d\u306a\u3069\u306e\u907a\u4f1d\u5b50\u75be\u60a3\u306e\u4e00\u90e8\u3068\u3057\u3066\u73fe\u308c\u3066\u3044\u308b\u5834\u5408\u3001\u4ee5\u4e0b\u306e\u7279\u5fb4\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>MIRAGE\u75c7\u5019\u7fa4:<\/strong> \u9aa8\u9ac4\u4e0d\u5168\u3001\u611f\u67d3\u75c7\u3001\u6210\u9577\u9045\u6ede\u3001\u526f\u814e\u4e0d\u5168\u3001\u751f\u6b96\u5668\u7570\u5e38\u3001\u6d88\u5316\u5668\u75c7\u72b6\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>GATA2\u6b20\u640d\u75c7:<\/strong> \u96e3\u6cbb\u6027\u306e\u3044\u307c\uff08\u4e73\u982d\u816b\u30a6\u30a4\u30eb\u30b9\u611f\u67d3\uff09\u3001\u30ea\u30f3\u30d1\u6d6e\u816b\u3001\u975e\u7d50\u6838\u6027\u6297\u9178\u83cc\u611f\u67d3\u75c7\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>Monosomy 7\u306e\u767a\u751f\u306b\u306f\u300c\u4f53\u7d30\u80de\u5909\u7570\u300d\u3068\u300c\u751f\u6b96\u7d30\u80de\u7cfb\u5217\u306e\u5909\u7570\uff08\u907a\u4f1d\u6027\uff09\u300d\u306e2\u3064\u306e\u5074\u9762\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u907a\u4f1d\u7684\u7d20\u56e0\uff08\u751f\u6b96\u7d30\u80de\u7cfb\u5217\uff09<\/strong><\/p>\n\n\n\n<p>\u8fd1\u5e74\u3001\u4e00\u90e8\u306e\u5b50\u4f9b\u305f\u3061\u306b\u304a\u3044\u3066\u3001\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u305f\u3081\u306b\u3001\u9020\u8840\u7d30\u80de\u304cMonosomy 7\u3092\u8d77\u3053\u3057\u3084\u3059\u304f\u306a\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u5224\u660e\u3057\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>SAMD9 \/ SAMD9L\u5909\u7570:<\/strong> \u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306f\u672c\u6765\u3001\u7d30\u80de\u306e\u5897\u6b96\u3092\u6291\u3048\u308b\u50cd\u304d\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5909\u7570\u306b\u3088\u308a\u300c\u6291\u3048\u3059\u304e\u308b\u300d\u72b6\u614b\u306b\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u5f37\u3044\u6291\u5236\u304b\u3089\u9003\u308c\u308b\u305f\u3081\u306b\u3001\u9020\u8840\u7d30\u80de\u304c\u81ea\u30897\u756a\u67d3\u8272\u4f53\uff08\u5909\u7570\u907a\u4f1d\u5b50\u304c\u4e57\u3063\u3066\u3044\u308b\u5074\uff09\u3092\u6368\u3066\u53bb\u308a\u3001Monosomy 7\u3068\u306a\u3063\u3066\u5897\u6b96\u3092\u59cb\u3081\u308b\u3068\u3044\u3046\u300c\u9069\u5fdc\u7684\u9078\u629e\u300d\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>GATA2\u5909\u7570:<\/strong> \u9020\u8840\u5e79\u7d30\u80de\u306e\u7dad\u6301\u306b\u5fc5\u8981\u306a\u907a\u4f1d\u5b50\u3067\u3001\u3053\u306e\u5909\u7570\u304c\u3042\u308b\u7d30\u80de\u306fMonosomy 7\u3092\u7372\u5f97\u3059\u308b\u3053\u3068\u3067\u767d\u8840\u75c5\u5316\u3078\u306e\u9053\u3092\u8fbf\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5076\u767a\u7684\u306a\u4f53\u7d30\u80de\u5909\u7570<\/strong><\/p>\n\n\n\n<p>\u7279\u306b\u907a\u4f1d\u7684\u306a\u7d20\u56e0\u304c\u306a\u304f\u3066\u3082\u3001\u5316\u5b66\u7642\u6cd5\uff08\u4e8c\u6b21\u6027\u767d\u8840\u75c5\uff09\u3084\u74b0\u5883\u8981\u56e0\u3001\u3042\u308b\u3044\u306f\u52a0\u9f62\u306b\u4f34\u3046\u7d30\u80de\u5206\u88c2\u306e\u30df\u30b9\u306b\u3088\u3063\u3066\u3001\u7279\u5b9a\u306e\u9020\u8840\u7d30\u80de\u304c7\u756a\u67d3\u8272\u4f53\u3092\u5931\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u8840\u6db2\u304a\u3088\u3073\u9aa8\u9ac4\u306e\u7cbe\u5bc6\u306a\u89e3\u6790\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u9aa8\u9ac4\u7a7f\u523a\u30fb\u751f\u691c:<br>\u8170\u306e\u9aa8\uff08\u8178\u9aa8\uff09\u304b\u3089\u9aa8\u9ac4\u6db2\u3092\u63a1\u53d6\u3057\u3001\u7d30\u80de\u306e\u5f62\u3084\u6570\u3092\u8abf\u3079\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u67d3\u8272\u4f53\u6838\u578b\u5206\u6790\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09:<br>\u5206\u88c2\u4e2d\u306e\u7d30\u80de\u306e\u67d3\u8272\u4f53\u3092\u76f4\u63a5\u89b3\u5bdf\u3057\u30017\u756a\u67d3\u8272\u4f53\u304c1\u672c\u3057\u304b\u306a\u3044\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>7\u756a\u67d3\u8272\u4f53\u306b\u7279\u7570\u7684\u306a\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u3066\u3001\u6b20\u5931\u3092\u8fc5\u901f\u304b\u3064\u6b63\u78ba\u306b\u691c\u51fa\u3057\u307e\u3059\u3002\u5c11\u6570\u306e\u7570\u5e38\u7d30\u80de\u3082\u898b\u9003\u3055\u306a\u3044\u305f\u3081\u306b\u6709\u7528\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\uff08NGS\uff09\u306b\u3088\u308b\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb:<br>\u80cc\u666f\u306bSAMD9\/SAMD9L\u3084GATA2\u3001RUNX1\u306a\u3069\u306e\u907a\u4f1d\u6027\u75be\u60a3\u304c\u96a0\u308c\u3066\u3044\u306a\u3044\u304b\u3092\u8abf\u3079\u307e\u3059\u3002\u3053\u308c\u306f\u6cbb\u7642\u65b9\u91dd\uff08\u79fb\u690d\u306e\u30bf\u30a4\u30df\u30f3\u30b0\u3084\u30c9\u30ca\u30fc\u9078\u5b9a\uff09\u3092\u6c7a\u5b9a\u3059\u308b\u4e0a\u3067\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>Shutterstock<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>Monosomy 7\u3092\u4f34\u3046\u9aa8\u9ac4\u4e0d\u5168\u3084MDS\u306f\u3001\u901a\u5e38\u306e\u5316\u5b66\u7642\u6cd5\uff08\u6297\u304c\u3093\u5264\uff09\u3060\u3051\u3067\u306f\u6cbb\u7652\u304c\u975e\u5e38\u306b\u56f0\u96e3\u3067\u3042\u308a\u3001**\u300c\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\u300d**\u304c\u552f\u4e00\u306e\u6839\u6cbb\u7684\u6cbb\u7642\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u540c\u7a2e\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30bf\u30a4\u30df\u30f3\u30b0:<\/strong> Monosomy 7\u304c\u78ba\u8a8d\u3055\u308c\u305f\u5834\u5408\u3001\u65e9\u671f\u306b\u767d\u8840\u75c5\u5316\u3059\u308b\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u305f\u3081\u3001\u53ef\u80fd\u306a\u9650\u308a\u65e9\u671f\u306e\u79fb\u690d\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30c9\u30ca\u30fc:<\/strong> HLA\uff08\u767d\u8840\u7403\u306e\u578b\uff09\u304c\u4e00\u81f4\u3059\u308b\u5144\u5f1f\u3084\u9aa8\u9ac4\u30d0\u30f3\u30af\u30c9\u30ca\u30fc\u304b\u3089\u5065\u5eb7\u306a\u9020\u8840\u5e79\u7d30\u80de\u3092\u79fb\u690d\u3057\u307e\u3059\u3002\u907a\u4f1d\u6027\u306e\u80cc\u666f\u304c\u3042\u308b\u5834\u5408\u3001\u5bb6\u65cf\u30c9\u30ca\u30fc\u306b\u540c\u3058\u907a\u4f1d\u5b50\u5909\u7570\u304c\u306a\u3044\u304b\u3092\u614e\u91cd\u306b\u78ba\u8a8d\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u652f\u6301\u7642\u6cd5<\/strong><\/p>\n\n\n\n<p>\u79fb\u690d\u307e\u3067\u306e\u671f\u9593\u3084\u3001\u79fb\u690d\u304c\u56f0\u96e3\u306a\u5834\u5408\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8f38\u8840:<\/strong> \u8d64\u8840\u7403\u3084\u8840\u5c0f\u677f\u3092\u88dc\u5145\u3057\u3001\u8ca7\u8840\u3084\u51fa\u8840\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6297\u751f\u5264\u30fb\u6297\u771f\u83cc\u85ac:<\/strong> \u597d\u4e2d\u7403\u6e1b\u5c11\u306b\u4f34\u3046\u91cd\u75c7\u611f\u67d3\u75c7\u3092\u4e88\u9632\u30fb\u6cbb\u7642\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u81ea\u7136\u5bdb\u89e3\u306e\u89b3\u5bdf\uff08\u7279\u6b8a\u306a\u30b1\u30fc\u30b9\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8fd1\u5e74\u306e\u7814\u7a76\u3067\u3001<em>SAMD9\/SAMD9L<\/em>\u5909\u7570\u306b\u4f34\u3046Monosomy 7\u306e\u4e00\u90e8\u306b\u306f\u3001\u7570\u5e38\u306a\u7d30\u80de\u304c\u81ea\u7136\u306b\u6d88\u6ec5\u3057\u3001\u8840\u7403\u6570\u304c\u56de\u5fa9\u3059\u308b\u300c\u81ea\u7136\u5bdb\u89e3\u300d\u304c\u898b\u3089\u308c\u308b\u4f8b\u304c\u3042\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u304d\u307e\u3057\u305f\u3002\u305f\u3060\u3057\u3001\u3053\u308c\u306f\u6975\u3081\u3066\u614e\u91cd\u306a\u7d4c\u904e\u89b3\u5bdf\u304c\u5fc5\u8981\u306a\u4f8b\u306b\u9650\u5b9a\u3055\u308c\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>\u30ea\u30b9\u30af:<\/strong> Monosomy 7\u3092\u4f34\u3046MDS\/\u767d\u8840\u75c5\u306f\u3001\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u306b\u300c\u9ad8\u30ea\u30b9\u30af\uff08\u4e0d\u826f\uff09\u300d\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002\u5316\u5b66\u7642\u6cd5\u3078\u306e\u53cd\u5fdc\u304c\u4e4f\u3057\u304f\u3001\u518d\u767a\u7387\u304c\u9ad8\u3044\u3053\u3068\u304c\u8ab2\u984c\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u79fb\u690d\u5f8c\u306e\u898b\u901a\u3057:<\/strong> \u65e9\u671f\u306b\u9069\u5207\u306a\u6761\u4ef6\u3067\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\u304c\u884c\u308f\u308c\u308c\u3070\u3001\u9577\u671f\u751f\u5b58\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002\u79fb\u690d\u6280\u8853\u306e\u5411\u4e0a\u306b\u3088\u308a\u3001\u6210\u529f\u7387\u306f\u5e74\u3005\u6539\u5584\u3057\u3066\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>Monosomy 7\uff087\u756a\u67d3\u8272\u4f53\u30e2\u30ce\u30bd\u30df\u30fc\uff09\u306f\u3001\u8840\u3092\u4f5c\u308b\u300c\u5de5\u5834\u300d\u3067\u3042\u308b\u9aa8\u9ac4\u306e\u4e2d\u3067\u3001\u5927\u5207\u306a\u8a2d\u8a08\u56f3\u306e\u4e00\u90e8\u304c\u5931\u308f\u308c\u3066\u3057\u307e\u3046\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u5358\u306a\u308b\u8840\u6db2\u306e\u7570\u5e38\u3067\u306f\u306a\u304f\u3001\u653e\u7f6e\u3059\u308b\u3068\u91cd\u3044\u767d\u8840\u75c5\u3078\u3068\u9032\u3093\u3067\u3057\u307e\u3046\u300c\u8d64\u4fe1\u53f7\u300d\u306e\u610f\u5473\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u5c0f\u3055\u306a\u304a\u5b50\u69d8\u3067\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u3001\u80cc\u666f\u306b\u751f\u307e\u308c\u3064\u304d\u306e\u907a\u4f1d\u7684\u306a\u4f53\u8cea\u304c\u96a0\u308c\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u3054\u5bb6\u65cf\u3078\u306e\u8a73\u3057\u3044\u8abf\u67fb\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u969b\u3001\u975e\u5e38\u306b\u4e0d\u5b89\u3092\u611f\u3058\u3089\u308c\u308b\u304b\u3068\u601d\u3044\u307e\u3059\u304c\u3001\u73fe\u5728\u306f\u691c\u67fb\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u767d\u8840\u75c5\u306b\u306a\u308b\u524d\u306e\u6bb5\u968e\u3067\u767a\u898b\u3057\u3001\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\u3068\u3044\u3046\u6839\u672c\u7684\u306a\u6cbb\u7642\u306b\u7e4b\u3052\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002\u8840\u6db2\u5185\u79d1\u3001\u5c0f\u5150\u79d1\u3001\u907a\u4f1d\u8a3a\u7642\u79d1\u304c\u30c1\u30fc\u30e0\u3068\u306a\u308a\u3001\u6700\u65b0\u306e\u77e5\u898b\u306b\u57fa\u3065\u3044\u3066\u304a\u5b50\u69d8\u306e\u672a\u6765\u3092\u5b88\u308b\u305f\u3081\u306e\u6700\u5584\u306e\u30b9\u30b1\u30b8\u30e5\u30fc\u30eb\u3092\u7acb\u3066\u3066\u3044\u304d\u307e\u3059\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>Hasle, H., et al.<\/strong> (2007). <em>Monosomy 7 and deletion 7q in children and adolescents with seminatural and therapy-related myeloid neoplasms.<\/em> Leukemia.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5c0f\u5150\u306b\u304a\u3051\u308b7\u30e2\u30ce\u30bd\u30df\u30fc\u306e\u4e88\u5f8c\u3068\u81e8\u5e8a\u50cf\u3092\u307e\u3068\u3081\u305f\u5927\u898f\u6a21\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Narumi, S., et al.<\/strong> (2016). <em>SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with monosomy 7.<\/em> Nature Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08MIRAGE\u75c7\u5019\u7fa4\u30687\u30e2\u30ce\u30bd\u30df\u30fc\u306e\u95a2\u9023\u3001\u304a\u3088\u3073\u305d\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u4e16\u754c\u3067\u521d\u3081\u3066\u89e3\u660e\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Wlodarski, M. W., et al.<\/strong> (2017). <em>Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.<\/em> Blood.\n<ul class=\"wp-block-list\">\n<li>\uff08GATA2\u6b20\u640d\u75c7\u306b\u304a\u3051\u308b7\u30e2\u30ce\u30bd\u30df\u30fc\u306e\u51fa\u73fe\u983b\u5ea6\u3068\u4e88\u5f8c\u306b\u95a2\u3059\u308b\u8a73\u7d30\u306a\u5831\u544a\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Kennedy, A. L., et al.<\/strong> (2017). <em>Genetic predisposition to albuminuria and myeloid neoplasia associated with monosomy 7.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff087\u30e2\u30ce\u30bd\u30df\u30fc\u3092\u4f34\u3046\u9aa8\u9ac4\u816b\u760d\u306e\u907a\u4f1d\u7684\u7d20\u56e0\u306b\u95a2\u3059\u308b\u5305\u62ec\u7684\u30ec\u30d3\u30e5\u30fc\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>SAMD9-Related Monosomy 7 and Myelodysplastic Syndrome<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u6700\u65b0\u306e\u8a3a\u65ad\u57fa\u6e96\u3068\u7ba1\u7406\u6307\u91dd\u304c\u7db2\u7f85\u3055\u308c\u3066\u3044\u308b\u4e16\u754c\u7684\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u65e5\u672c\u5c0f\u5150\u8840\u6db2\u30fb\u304c\u3093\u5b66\u4f1a<\/strong>: <em>\u5c0f\u5150\u767d\u8840\u75c5\u30fb\u30ea\u30f3\u30d1\u816b\u8a3a\u7642\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3 2024<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u65e5\u672c\u56fd\u5185\u306b\u304a\u3051\u308b\u6a19\u6e96\u7684\u306a\u6cbb\u7642\u30d5\u30ed\u30fc\u30c1\u30e3\u30fc\u30c8\u306e\u60c5\u5831\u6e90\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-17385","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\/17385","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\/17385\/revisions"}],"predecessor-version":[{"id":17387,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17385\/revisions\/17387"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17385"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}