{"id":17377,"date":"2026-01-22T03:17:03","date_gmt":"2026-01-22T03:17:03","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17377"},"modified":"2026-01-22T03:17:39","modified_gmt":"2026-01-22T03:17:39","slug":"monosomy-10p-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/monosomy-10p-syndrome\/","title":{"rendered":"Monosomy 10p 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>10p\u6b20\u5931\u75c7\u5019\u7fa4\uff0810p deletion syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>10p\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\uff0810p terminal deletion syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4 2\u578b\uff08DiGeorge syndrome 2; DGS2\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b10p13-p14\u9818\u57df\u306e\u6b20\u5931\u306b\u3088\u308a\u3001\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\uff08\u901a\u5e38\u306f22\u756a\u67d3\u8272\u4f53\u306e\u7570\u5e38\uff09\u3068\u307b\u307c\u540c\u4e00\u306e\u81e8\u5e8a\u50cf\u3092\u5448\u3059\u308b\u3053\u3068\u304b\u3089\u3001\u3053\u306e\u3088\u3046\u306b\u547c\u3070\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>HDR\u75c7\u5019\u7fa4\uff08HDR syndrome\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203bHypoparathyroidism\uff08\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\uff09\u3001Deafness\uff08\u611f\u97f3\u6027\u96e3\u8074\uff09\u3001Renal anomaly\uff08\u814e\u7570\u5e38\uff09\u306e\u982d\u6587\u5b57\u3092\u3068\u3063\u305f\u75c7\u5019\u7fa4\u3067\u300110p14-p15\u9818\u57df\u306e\u6b20\u5931\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u300210p\u30e2\u30ce\u30bd\u30df\u30fc\u75c7\u5019\u7fa4\u306e\u8868\u73fe\u578b\u306e\u4e00\u3064\u3068\u3057\u3066\u6271\u308f\u308c\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>10\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0913\u9818\u57df\u304b\u3089\u672b\u7aef\uff08p15\uff09\u306b\u304b\u3051\u3066\u306e\u5fae\u5c0f\u6b20\u5931<\/strong><\/p>\n\n\n\n<p>10p\u30e2\u30ce\u30bd\u30df\u30fc\u75c7\u5019\u7fa4\u306f\u300110\u756a\u67d3\u8272\u4f53\u306e\u4e00\u65b9\u306e\u77ed\u8155\u672b\u7aef\u90e8\u5206\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u6b20\u5931\u3059\u308b\u7bc4\u56f2\u306e\u5927\u304d\u3055\u3084\u4f4d\u7f6e\u306b\u3088\u3063\u3066\u3001\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u3084\u7d44\u307f\u5408\u308f\u305b\u304c\u5927\u304d\u304f\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>\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u4f53\u306e\u5f62\u6210\u306b\u304a\u3044\u3066\u6975\u3081\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u300c\u53f8\u4ee4\u5854\u300d\u306e\u3088\u3046\u306a\u907a\u4f1d\u5b50\u304c\u8907\u6570\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>GATA3\u907a\u4f1d\u5b50 (10p14.3):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6700\u3082\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u306e\u4e00\u3064\u3067\u3059\u3002\u526f\u7532\u72b6\u817a\u3001\u5185\u8033\uff08\u8074\u899a\uff09\u3001\u814e\u81d3\u306e\u767a\u9054\u3092\u5236\u5fa1\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u304c<strong>\u5fae\u5c0f\u6b20\u5931<\/strong>\u306b\u3088\u3063\u30661\u3064\u5931\u308f\u308c\u308b\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3068\u3001HDR\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u304c\u73fe\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>DGS2\u9818\u57df (10p13-p14):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u306e\u9818\u57df\u304c\u5931\u308f\u308c\u308b\u3068\u3001\u80f8\u817a\u306e\u4f4e\u5f62\u6210\uff08\u514d\u75ab\u4e0d\u5168\uff09\u3084\u5148\u5929\u6027\u5fc3\u75be\u60a3\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u80ce\u5150\u671f\u306e\u300c\u54bd\u982d\u56a2\uff08\u3044\u3093\u3068\u3046\u306e\u3046\uff09\u300d\u3068\u3044\u3046\u7d44\u7e54\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u7fa4\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u305f\u3081\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>CUGBP2 \/ CUEDC2\u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u81d3\u306e\u6d41\u51fa\u8def\u5f62\u6210\u3084\u795e\u7d4c\u767a\u9054\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<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u6975\u3081\u3066\u7a00\uff08Ultra-rare\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u63a8\u5b9a\u983b\u5ea6:<\/strong> \u6b63\u78ba\u306a\u7d71\u8a08\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u4e16\u754c\u7684\u306b\u898b\u3066\u3082\u5831\u544a\u4f8b\u306f\u9650\u3089\u308c\u3066\u304a\u308a\u3001\u6570\u4e07\u4eba\u306b1\u4eba\u3001\u3042\u308b\u3044\u306f\u305d\u308c\u4ee5\u4e0b\u306e\u983b\u5ea6\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad\u306e\u50be\u5411:<\/strong> \u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u304c\u7591\u308f\u308c\u305f\u60a3\u8005\u306e\u4e2d\u3067\u300122q11.2\u306e\u691c\u67fb\u304c\u9670\u6027\u3067\u3042\u3063\u305f\u30b1\u30fc\u30b9\u304b\u3089\u767a\u898b\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u8fd1\u5e74\u306e\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u8a3a\u65ad\u6570\u304c\u5897\u3048\u3064\u3064\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee:<\/strong> \u7537\u5973\u5dee\u306f\u306a\u304f\u3001\u3069\u3061\u3089\u306e\u6027\u5225\u3067\u3082\u767a\u75c7\u3057\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>10p\u30e2\u30ce\u30bd\u30df\u30fc\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u591a\u5c90\u306b\u308f\u305f\u308a\u3001\u5fc3\u81d3\u3001\u514d\u75ab\u3001\u5185\u5206\u6ccc\u3001\u611f\u899a\u5668\u3001\u305d\u3057\u3066\u7cbe\u795e\u767a\u9054\u306b\u53ca\u3073\u307e\u3059\u3002\u6b20\u5931\u7bc4\u56f2\u304c10p\u672b\u7aef\uff08p15\uff09\u5074\u306b\u9650\u5b9a\u3055\u308c\u3066\u3044\u308b\u304b\u3001\u3088\u308a\u4e2d\u5fc3\u90e8\uff08p13\uff09\u307e\u3067\u53ca\u3093\u3067\u3044\u308b\u304b\u306b\u3088\u3063\u3066\u81e8\u5e8a\u50cf\u304c\u5206\u304b\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u69d8\u306e\u75c7\u72b6\uff08DGS2\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3:<\/strong> \u7d0450%\u4ee5\u4e0a\u306e\u75c7\u4f8b\u3067\u898b\u3089\u308c\u307e\u3059\u3002\u7279\u306b\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u3001\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\uff08VSD\uff09\u3001\u5927\u52d5\u8108\u5f13\u96e2\u65ad\u306a\u3069\u306e\u300c\u5fc3\u81d3\u6d41\u51fa\u8def\u7570\u5e38\u300d\u304c\u5178\u578b\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u514d\u75ab\u4e0d\u5168\uff08\u80f8\u817a\u4f4e\u5f62\u6210\uff09:<\/strong> \u80f8\u817a\u304c\u3046\u307e\u304f\u4f5c\u3089\u308c\u306a\u3044\u305f\u3081\u3001T\u7d30\u80de\u3068\u3044\u3046\u514d\u75ab\u7d30\u80de\u304c\u4e0d\u8db3\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u30a6\u30a4\u30eb\u30b9\u3084\u7d30\u83cc\u306b\u611f\u67d3\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\uff08\u6613\u611f\u67d3\u6027\uff09\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7:<\/strong> \u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u306b\u3088\u308a\u3001\u8840\u4e2d\u306e\u30ab\u30eb\u30b7\u30a6\u30e0\u6fc3\u5ea6\u304c\u4f4e\u4e0b\u3057\u3001\u65b0\u751f\u5150\u671f\u306e\u3051\u3044\u308c\u3093\uff08\u30c6\u30bf\u30cb\u30fc\uff09\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. HDR\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\uff08GATA3\u95a2\u9023\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u611f\u97f3\u6027\u96e3\u8074:<\/strong> \u751f\u307e\u308c\u3064\u304d\u3001\u3042\u308b\u3044\u306f\u5e7c\u5150\u671f\u304b\u3089\u4e21\u5074\u6027\u306e\u96e3\u8074\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u9ad8\u97f3\u57df\u304b\u3089\u9032\u884c\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u7570\u5e38:<\/strong> \u814e\u6b20\u640d\uff08\u7247\u65b9\u306e\u814e\u81d3\u304c\u306a\u3044\uff09\u3001\u814e\u5f62\u6210\u4e0d\u5168\u3001\u56a2\u80de\u6027\u814e\u75be\u60a3\u306a\u3069\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b:<\/strong> \u9577\u671f\u7684\u306a\u30ab\u30eb\u30b7\u30a6\u30e0\u7ba1\u7406\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \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>\u5e83\u3044\u984d\u3068\u9ad8\u3044\u30d8\u30a2\u30e9\u30a4\u30f3:<\/strong> \u984d\u304c\u5e83\u304f\u898b\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u9593\u958b\u96e2:<\/strong> \u4e21\u76ee\u306e\u9593\u9694\u304c\u5e83\u304f\u96e2\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8033\u306e\u7570\u5e38:<\/strong> \u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\uff08\u4f4e\u4f4d\u4ed8\u7740\u8033\uff09\u3001\u5f8c\u65b9\u306b\u56de\u8ee2\u3057\u3066\u3044\u308b\u3001\u3042\u308b\u3044\u306f\u8033\u4ecb\u306e\u5909\u5f62\u3002<\/li>\n\n\n\n<li><strong>\u9f3b:<\/strong> \u9f3b\u6839\u90e8\u304c\u5e73\u5766\u3067\u3001\u9f3b\u5148\u304c\u4e38\u3044\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u984e\u75c7:<\/strong> \u3042\u3054\u304c\u5c0f\u3055\u304f\u3001\u5f8c\u308d\u306b\u4e0b\u304c\u3063\u3066\u3044\u308b\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \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> \u307b\u307c\u3059\u3079\u3066\u306e\u75c7\u4f8b\u3067\u3001\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b:<\/strong> \u4e73\u5150\u671f\u306b\u300c\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\u300d\u3068\u3057\u3066\u73fe\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u904b\u52d5\u767a\u9054\uff08\u9996\u3059\u308f\u308a\u3001\u304a\u6b69\u304d\uff09\u3092\u9045\u3089\u305b\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8449\u306e\u9045\u308c:<\/strong> \u96e3\u8074\u306e\u5f71\u97ff\u3082\u3042\u308a\u3001\u8a00\u8a9e\u306e\u7372\u5f97\u306b\u306f\u7279\u5225\u306a\u652f\u63f4\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\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>10p13-p15\u9818\u57df\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\uff08\u7d0480%\u4ee5\u4e0a\uff09:<br>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u306b10p\u306e\u5fae\u5c0f\u6b20\u5931\u304c\u751f\u3058\u305f\u3082\u306e\u3067\u3059\u3002\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\u5b50\uff08\u304d\u3087\u3046\u3060\u3044\uff09\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\u306e\u7d99\u627f:<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<\/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\u300c\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u72b6\u300d\u3084\u300c\u96e3\u8074\u30fb\u814e\u7570\u5e38\u300d\u304b\u3089\u7591\u308f\u308c\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul 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\u300210p\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<\/li>\n\n\n\n<li>FISH\u6cd5:<br>\u7279\u5b9a\u306e\u9818\u57df\u3092\u5149\u3089\u305b\u3066\u6b20\u5931\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u89aa\u306e\u67d3\u8272\u4f53\u69cb\u6210\u3092\u8abf\u3079\u308b\u969b\u306b\u3082\u591a\u7528\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5168\u8eab\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u30a8\u30b3\u30fc:<\/strong> \u5148\u5929\u6027\u5fc3\u75be\u60a3\u306e\u6709\u7121\u3068\u91cd\u75c7\u5ea6\u3092\u8a55\u4fa1\u3002<\/li>\n\n\n\n<li><strong>\u8179\u90e8\u8d85\u97f3\u6ce2:<\/strong> \u814e\u81d3\u306e\u5f62\u3084\u7570\u5e38\u3092\u78ba\u8a8d\u3002<\/li>\n\n\n\n<li><strong>\u8840\u6db2\u691c\u67fb:<\/strong> \u30ab\u30eb\u30b7\u30a6\u30e0\u3001\u30ea\u30f3\u3001PTH\uff08\u526f\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\uff09\u3001\u304a\u3088\u3073\u514d\u75ab\u7d30\u80de\uff08T\u7d30\u80de\uff09\u306e\u6570\u3092\u78ba\u8a8d\u3002<\/li>\n\n\n\n<li><strong>\u8074\u529b\u691c\u67fb\uff08ABR\/ASSR\uff09:<\/strong> \u65e9\u671f\u306e\u96e3\u8074\u8a3a\u65ad\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\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\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b**\u300c\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5bfe\u75c7\u7642\u6cd5\u300d\u3068\u300c\u4e88\u9632\u7684\u7ba1\u7406\u300d**\u306b\u7f6e\u304b\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5185\u79d1\u30fb\u5185\u5206\u6ccc\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u306e\u6cbb\u7642:<\/strong> \u6d3b\u6027\u578b\u30d3\u30bf\u30df\u30f3D\u88fd\u5264\u3084\u30ab\u30eb\u30b7\u30a6\u30e0\u5264\u306e\u6295\u4e0e\u3002<\/li>\n\n\n\n<li><strong>\u514d\u75ab\u7ba1\u7406:<\/strong> \u514d\u75ab\u4e0d\u5168\u304c\u3042\u308b\u5834\u5408\u3001\u611f\u67d3\u75c7\u306e\u65e9\u671f\u6cbb\u7642\u3084\u3001\u751f\u30ef\u30af\u30c1\u30f3\u306e\u63a5\u7a2e\u53ef\u5426\u306e\u614e\u91cd\u306a\u5224\u65ad\u304c\u5fc5\u8981\u3067\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\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u5916\u79d1\u7684\u306a\u77ef\u6b63\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6ccc\u5c3f\u5668\u79d1\u7684\u51e6\u7f6e:<\/strong> \u814e\u7570\u5e38\u3084\u5c3f\u8def\u611f\u67d3\u75c7\u306b\u5bfe\u3059\u308b\u7ba1\u7406\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u611f\u899a\u5668\u306e\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u96e3\u8074\u3078\u306e\u5bfe\u5fdc:<\/strong> \u65e9\u671f\u306e\u88dc\u8074\u5668\u88c5\u7528\u3084\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u4eba\u5de5\u5185\u8033\u306e\u691c\u8a0e\u3002\u8a00\u8a9e\u767a\u9054\u3092\u4fc3\u3059\u305f\u3081\u306b\u3001\u624b\u8a71\u3084\u8996\u899a\u7684\u652f\u63f4\u3092\u7528\u3044\u305f\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u767a\u9054\u652f\u63f4\u30fb\u7642\u80b2<\/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>\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\uff08IEP\uff09\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\uff08\u7279\u306b\u5fc3\u75be\u60a3\u306e\u91cd\u75c7\u5ea6\u3068\u514d\u75ab\u4e0d\u5168\u306e\u7a0b\u5ea6\uff09\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\u30ab\u30eb\u30b7\u30a6\u30e0\u7ba1\u7406\u3084\u611f\u67d3\u75c7\u5bfe\u7b56\u304c\u9069\u5207\u306b\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\u3084\u96e3\u8074\u3078\u306e\u5bfe\u5fdc\u306a\u3069\u3001\u9577\u671f\u7684\u306a\u751f\u6d3b\u652f\u63f4\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\u3066\u3044\u304d\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 10p syndrome\uff0810p\u30e2\u30ce\u30bd\u30df\u30fc\u75c7\u5019\u7fa4\uff09\u306f\u300110\u756a\u67d3\u8272\u4f53\u306e\u5148\u7aef\u306b\u3042\u308b\u5927\u5207\u306a\u8a2d\u8a08\u56f3\uff08\u907a\u4f1d\u5b50\uff09\u304c\u3001\u307b\u3093\u306e\u308f\u305a\u304b\u306b\u5931\u308f\u308c\u308b\u300c\u5fae\u5c0f\u6b20\u5931\u300d\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a2d\u8a08\u56f3\u306b\u306f\u3001\u5fc3\u81d3\u3001\u8033\uff08\u8074\u529b\uff09\u3001\u526f\u7532\u72b6\u817a\uff08\u30ab\u30eb\u30b7\u30a6\u30e0\uff09\u3001\u814e\u81d3\u306a\u3069\u3092\u4f5c\u308b\u305f\u3081\u306e\u6307\u4ee4\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u5168\u8eab\u306b\u3055\u307e\u3056\u307e\u306a\u5f71\u97ff\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u975e\u5e38\u306b\u3088\u304f\u4f3c\u305f\u75c7\u72b6\u3092\u6301\u3061\u307e\u3059\u304c\u3001\u3053\u306e10p\u30e2\u30ce\u30bd\u30df\u30fc\u7279\u6709\u306e\u300c\u96e3\u8074\u300d\u3078\u306e\u65e9\u671f\u5bfe\u5fdc\u304c\u3001\u8a00\u8449\u3084\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u767a\u9054\u3092\u5b88\u308b\u305f\u3081\u306b\u3068\u3066\u3082\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u3068\u304d\u3001\u3054\u5bb6\u65cf\u306f\u4e0d\u5b89\u306b\u601d\u308f\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u4eca\u306f\u591a\u304f\u306e\u5c02\u9580\u533b\uff08\u5c0f\u5150\u79d1\u3001\u5fc3\u81d3\u5916\u79d1\u3001\u8033\u9f3b\u79d1\u3001\u5185\u5206\u6ccc\u79d1\u3001\u907a\u4f1d\u8a3a\u7642\u90e8\u306a\u3069\uff09\u304c\u30c1\u30fc\u30e0\u3092\u7d44\u3093\u3067\u3001\u4e00\u3064\u3072\u3068\u3064\u306e\u75c7\u72b6\u3092\u30b5\u30dd\u30fc\u30c8\u3067\u304d\u308b\u4f53\u5236\u304c\u6574\u3063\u3066\u3044\u307e\u3059\u3002\u304a\u5b50\u69d8\u306e\u6b69\u5e45\u306b\u5408\u308f\u305b\u305f\u6210\u9577\u3092\u3001\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>Schuffenhauer, S., et al.<\/strong> (1995). <em>Deletion 10p and DiGeorge syndrome.<\/em> Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff0810p\u6b20\u5931\u3068\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u7684\u306a\u95a2\u9023\u3092\u89e3\u660e\u3057\u305f\u521d\u671f\u306e\u91cd\u8981\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Van Esch, H., et al.<\/strong> (2000). <em>GATA3 haploinsufficiency causes human HDR syndrome.<\/em> Nature.\n<ul class=\"wp-block-list\">\n<li>\uff08GATA3\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304cHDR\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u7279\u5b9a\u3057\u305f\u753b\u671f\u7684\u306a\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Lindstrand, A., et al.<\/strong> (2010). <em>Molecular characterization of 10p terminal deletions.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff0810p\u672b\u7aef\u6b20\u5931\u306e\u7bc4\u56f2\u3068\u81e8\u5e8a\u75c7\u72b6\uff08\u30d5\u30a7\u30ce\u30bf\u30a4\u30d7\uff09\u306e\u76f8\u95a2\u3092\u8a73\u7d30\u306b\u5206\u6790\u3057\u305f\u6587\u732e\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>HDR Syndrome \/ 10p Deletion<\/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>10p 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>10p15 deletion syndrome \/ 10p13-p14 deletion syndrome<\/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-17377","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\/17377","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":3,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17377\/revisions"}],"predecessor-version":[{"id":17380,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17377\/revisions\/17380"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17377"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}