{"id":17414,"date":"2026-01-22T03:49:40","date_gmt":"2026-01-22T03:49:40","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17414"},"modified":"2026-01-22T03:50:07","modified_gmt":"2026-01-22T03:50:07","slug":"partial-trisomy-6q-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/partial-trisomy-6q-syndrome\/","title":{"rendered":"Partial Trisomy 6q 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>6q\u90e8\u5206\u91cd\u8907\u75c7\u5019\u7fa4\uff08Partial duplication 6q syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>6q\u9060\u4f4d\u90e8\u30c8\u30ea\u30bd\u30df\u30fc\uff08Distal trisomy 6q\uff09<\/strong><\/li>\n\n\n\n<li><strong>6q21-qter\u91cd\u8907\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>\u4e0d\u5747\u8861\u8ee2\u5ea7\u306b\u3088\u308b6q\u30c8\u30ea\u30bd\u30df\u30fc<\/strong><\/li>\n\n\n\n<li><strong>6q\u672b\u7aef\u30c8\u30ea\u30bd\u30df\u30fc\uff086q terminal trisomy\uff09<\/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>6\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff09\u306e\u7279\u5b9a\u9818\u57df\u306e\u91cd\u8907\uff08\u7279\u306b6q21\u304b\u3089\u672b\u7aef\u306b\u304b\u3051\u3066\uff09<\/strong><\/p>\n\n\n\n<p>6q\u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc\u75c7\u5019\u7fa4\u306f\u30016\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306e\u4e00\u90e8\u304c\u3001\u901a\u5e38\u306e2\u672c\u3067\u306f\u306a\u304f3\u672c\uff08\u3042\u308b\u3044\u306f\u305d\u308c\u4ee5\u4e0a\uff09\u5b58\u5728\u3059\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u81e8\u5e8a\u7684\u306b\u306f\u3001\u7279\u306b\u300c6q25\u300d\u304b\u3089\u672b\u7aef\uff08q-telomere\uff09\u306b\u304b\u3051\u3066\u306e\u91cd\u8907\u304c\u3001\u672c\u75c7\u5019\u7fa4\u7279\u6709\u306e\u91cd\u7be4\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u3068\u8003\u3048\u3089\u308c\u3066\u3044\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>6\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u9060\u4f4d\u90e8\u306b\u306f\u3001\u80da\u767a\u751f\u306b\u304a\u3044\u3066\u591a\u7cfb\u7d71\u306e\u81d3\u5668\u5f62\u6210\u3092\u53f8\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u96c6\u7a4d\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>PLAGL1\u907a\u4f1d\u5b50 (6q24.2):<\/strong> \u6210\u9577\u6291\u5236\u306b\u95a2\u4e0e\u3057\u3001\u3053\u306e\u9818\u57df\u306e\u91cd\u8907\u306f\u4e00\u904e\u6027\u65b0\u751f\u5150\u7cd6\u5c3f\u75c5\u3084\u6210\u9577\u9045\u6ede\u306b\u95a2\u4fc2\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>ARID1B\u907a\u4f1d\u5b50 (6q25.3):<\/strong> \u30af\u30ed\u30de\u30c1\u30f3\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\u306b\u95a2\u4e0e\u3057\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u7570\u5e38\uff08\u6b20\u5931\u3084\u91cd\u8907\uff09\u306f\u77e5\u7684\u969c\u5bb3\u3084\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u4f4e\u8eab\u9577\u3092\u6765\u3059\u300c\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u300d\u69d8\u306e\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>ESR1\u907a\u4f1d\u5b50 (6q25.1):<\/strong> \u30a8\u30b9\u30c8\u30ed\u30b2\u30f3\u53d7\u5bb9\u4f53\u3092\u30b3\u30fc\u30c9\u3057\u3001\u9aa8\u683c\u306e\u767a\u80b2\u3084\u795e\u7d4c\u4fdd\u8b77\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p><strong>\u5fae\u5c0f<\/strong>\u306a\u9818\u57df\u306e\u91cd\u8907\u3067\u3042\u3063\u3066\u3082\u3001\u3053\u308c\u3089\u306e\u300c\u53f8\u4ee4\u5854\u300d\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u7523\u7269\u304c\u904e\u5270\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u7d30\u80de\u5185\u306e\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3001\u8907\u96d1\u306a\u81e8\u5e8a\u50cf\uff08\u96a3\u63a5\u907a\u4f1d\u5b50\u91cd\u8907\u75c7\u5019\u7fa4\uff09\u3092\u5448\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u6975\u3081\u3066\u7a00\uff08Ultra-rare\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u63a8\u5b9a:<\/strong> \u4e16\u754c\u7684\u306b\u898b\u3066\u3082\u5831\u544a\u4f8b\u306f100\u4f8b\u7a0b\u5ea6\u306b\u9650\u3089\u308c\u3066\u304a\u308a\u3001\u6b63\u78ba\u306a\u51fa\u751f\u983b\u5ea6\u306f\u7b97\u51fa\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u6570\u4e07\u301c\u5341\u6570\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u306e\u5e0c\u5c11\u75be\u60a3\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee:<\/strong> \u5831\u544a\u4f8b\u306b\u9855\u8457\u306a\u7537\u5973\u5dee\u306f\u8a8d\u3081\u3089\u308c\u305a\u3001\u7537\u5973\u3068\u3082\u306b\u767a\u75c7\u306e\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad\u306e\u73fe\u72b6:<\/strong> \u304b\u3064\u3066\u306f\u9855\u5fae\u93e1\u306b\u3088\u308b\u6838\u578b\u5206\u6790\u3067\u898b\u3064\u304b\u308b\u5927\u304d\u306a\u91cd\u8907\u304c\u4e3b\u3067\u3057\u305f\u304c\u3001\u73fe\u5728\u306f\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u5916\u898b\u3067\u306f\u5224\u5225\u3057\u306b\u304f\u3044<strong>\u5fae\u5c0f<\/strong>\u91cd\u8907\u306e\u75c7\u4f8b\u3082\u8a3a\u65ad\u3055\u308c\u308b\u3088\u3046\u306b\u306a\u3063\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>Partial Trisomy 6q syndrome\u306e\u81e8\u5e8a\u50cf\u306f\u3001\u91cd\u8907\u306e\u7bc4\u56f2\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u9060\u4f4d\u90e8\uff086q25-qter\uff09\u304c\u95a2\u4e0e\u3059\u308b\u5834\u5408\u3001\u975e\u5e38\u306b\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3092\u5448\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Facial Dysmorphism\uff09<\/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>\u5e73\u5766\u306a\u9854\u8c8c:<\/strong> \u9854\u5168\u4f53\u304c\u5e73\u9762\u7684\u3067\u3001\u8d77\u4f0f\u304c\u5c11\u306a\u3044\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\u308b\u3002<\/li>\n\n\n\n<li><strong>\u773c\u77bc\u88c2\u659c\u4e0b:<\/strong> \u76ee\u5c3b\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\uff08\u30bf\u30ec\u76ee\u69d8\uff09\u3002<\/li>\n\n\n\n<li><strong>\u773c\u77bc\u88c2\u72ed\u5c0f:<\/strong> \u76ee\u306e\u6a2a\u5e45\u304c\u77ed\u3044\u3002<\/li>\n\n\n\n<li><strong>\u9f3b:<\/strong> \u9f3b\u6839\u90e8\u304c\u4f4e\u304f\u5e73\u5766\u3067\u3001\u9f3b\u5b54\u304c\u524d\u3092\u5411\u3044\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u53e3:<\/strong> \u5e38\u306b\u53e3\u3092\u958b\u3051\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u304f\uff08open mouth\uff09\u3001\u5f13\u72b6\u306e\u5507\u3084\u3001\u9ad8\u53e3\u84cb\u3001\u53e3\u84cb\u88c2\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\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\u5f8c\u65b9\u306b\u56de\u8ee2\u3057\u305f\u8033\u4ecb\u3001\u3042\u308b\u3044\u306f\u8033\u4ecb\u306e\u5909\u5f62\u3002<\/li>\n\n\n\n<li><strong>\u77ed\u9838:<\/strong> \u9996\u304c\u77ed\u304f\u3001\u76ae\u819a\u306e\u4f59\u5270\uff08\u7ffc\u72b6\u9838\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u77e5\u7684\u969c\u5bb3\u304a\u3088\u3073\u767a\u9054\u9045\u6ede<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u91cd\u5ea6\u306e\u7cbe\u795e\u9045\u6ede:<\/strong> \u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u3067\u3001\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\u306e\u9045\u308c:<\/strong> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4e73\u5150\u671f\u306e\u4f53\u306e\u67d4\u3089\u304b\u3055\uff09\u306b\u3088\u308a\u3001\u9996\u3059\u308f\u308a\u3084\u304a\u5ea7\u308a\u3001\u6b69\u884c\u306e\u7372\u5f97\u304c\u5927\u5e45\u306b\u9045\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u969c\u5bb3:<\/strong> \u8a00\u8449\u306e\u7406\u89e3\u3084\u8868\u51fa\u306b\u304a\u3044\u3066\u9855\u8457\u306a\u9045\u6ede\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u95a2\u7bc0\u62d8\u7e2e\u304a\u3088\u3073\u9aa8\u683c\u7570\u5e38<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e\u5927\u304d\u306a\u7279\u5fb4\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u591a\u767a\u6027\u95a2\u7bc0\u62d8\u7e2e:<\/strong> \u751f\u307e\u308c\u3064\u304d\u819d\u3001\u8098\u3001\u624b\u9996\u306a\u3069\u306e\u95a2\u7bc0\u304c\u4e00\u5b9a\u306e\u89d2\u5ea6\u3067\u56fa\u307e\u3063\u3066\u304a\u308a\u3001\u53ef\u52d5\u57df\u304c\u5236\u9650\u3055\u308c\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5185\u53cd\u8db3:<\/strong> \u8db3\u306e\u5148\u304c\u5185\u5074\u306b\u66f2\u304c\u3063\u3066\u3044\u308b\u5909\u5f62\u3002<\/li>\n\n\n\n<li><strong>\u810a\u67f1\u5074\u5f4e\u75c7:<\/strong> \u6210\u9577\u306b\u4f34\u3044\u80cc\u9aa8\u304c\u5de6\u53f3\u306b\u66f2\u304c\u308b\u75c7\u72b6\u3002<\/li>\n\n\n\n<li><strong>\u6307\u306e\u5909\u5f62:<\/strong> \u6307\u304c\u7d30\u304f\u3001\u3042\u308b\u3044\u306f\u91cd\u306a\u308a\u5408\u3063\u3066\u3044\u308b\uff08overlapping fingers\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5185\u90e8\u81d3\u5668\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3:<\/strong> \u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\uff08VSD\uff09\u3001\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\uff08ASD\uff09\u3001\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6ccc\u5c3f\u751f\u6b96\u5668\u7570\u5e38:<\/strong> \u814e\u6b20\u640d\u3001\u814e\u5f62\u6210\u4e0d\u5168\u3001\u7537\u5150\u306b\u304a\u3051\u308b\u505c\u7559\u7cbe\u5de3\u3002<\/li>\n\n\n\n<li><strong>\u8133\u306e\u69cb\u9020\u7570\u5e38:<\/strong> \u8133\u6881\u6b20\u640d\u3001\u8133\u5ba4\u62e1\u5927\u3001\u5c0f\u8133\u4f4e\u5f62\u6210\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u6210\u9577\u969c\u5bb3<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80ce\u5185\u767a\u80b2\u4e0d\u5168:<\/strong> \u51fa\u751f\u6642\u304b\u3089\u8eab\u9577\u30fb\u4f53\u91cd\u304c\u5c0f\u3055\u304f\u3001\u51fa\u751f\u5f8c\u3082\u6210\u9577\u66f2\u7dda\u306e\u4e0b\u9650\u3092\u8fbf\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\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>6q\u9818\u57df\u306e\u91cd\u8907\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u5f62\u5f0f\u306b\u76f8\u5f53\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u304c\u751f\u3058\u308b\u539f\u56e0\u306b\u306f\u3001\u4e3b\u306b2\u3064\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u89aa\u306e\u5747\u8861\u578b\u8ee2\u5ea7\u304b\u3089\u306e\u7d99\u627f\uff08\u7d0475%\uff09<\/strong><\/p>\n\n\n\n<p>\u6700\u3082\u4e00\u822c\u7684\u306a\u539f\u56e0\u3067\u3059\u3002\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u30016\u756a\u67d3\u8272\u4f53\u3068\u4ed6\u306e\u67d3\u8272\u4f53\u306e\u9593\u3067\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u89aa\u81ea\u8eab\u306f\u907a\u4f1d\u5b50\u91cf\u306e\u904e\u4e0d\u8db3\u304c\u306a\u3044\u305f\u3081\u5065\u5eb7\u3067\u3059\u304c\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u3067\u304d\u308b\u969b\u306e\u300c\u6e1b\u6570\u5206\u88c2\u300d\u3067\u30016\u756a\u67d3\u8272\u4f53\u306e\u91cd\u8907\u90e8\u5206\u304c\u4e0d\u5747\u8861\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u3068\u3001\u304a\u5b50\u69d8\u306b\u30c8\u30ea\u30bd\u30df\u30fc\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u5225\u306e\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5931\u308f\u308c\u308b\uff08\u30e2\u30ce\u30bd\u30df\u30fc\uff09\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u304f\u3001\u75c7\u72b6\u306f\u3055\u3089\u306b\u591a\u69d8\u5316\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u65b0\u751f\u7a81\u7136\u5909\u7570\uff08De novo duplication\uff09<\/strong><\/p>\n\n\n\n<p>\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u306b6q\u306e<strong>\u5fae\u5c0f<\/strong>\u91cd\u8907\u304c\u751f\u3058\u305f\u3082\u306e\u3067\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u6975\u3081\u3066\u4f4e\u3044\uff081%\u672a\u6e80\uff09\u3068\u3055\u308c\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>\u81e8\u5e8a\u7684\u306a\u7279\u5fb4\uff08\u9854\u8c8c\u3001\u95a2\u7bc0\u62d8\u7e2e\u3001\u767a\u9054\u9045\u6ede\uff09\u304b\u3089\u672c\u75c7\u5019\u7fa4\u3092\u7591\u3044\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3057\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\u30026q\u306e\u3069\u306e\u9818\u57df\u304c\u3069\u306e\u7a0b\u5ea6\u306e\u30b5\u30a4\u30ba\u3067\u91cd\u8907\u3057\u3066\u3044\u308b\u304b\uff08\u5fae\u5c0f\u91cd\u8907\u306e\u7bc4\u56f2\uff09\u3092\u7cbe\u5bc6\u306b\u7279\u5b9a\u3067\u304d\u3001\u4e88\u5f8c\u4e88\u6e2c\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u67d3\u8272\u4f53\u6838\u578b\u5206\u6790\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09:<br>\u6bd4\u8f03\u7684\u5927\u304d\u306a\u91cd\u8907\u3084\u3001\u67d3\u8272\u4f53\u5168\u4f53\u306e\u69cb\u9020\u5909\u5316\uff08\u8ee2\u5ea7\u306a\u3069\uff09\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>FISH\u6cd5:<br>\u7279\u5b9a\u306e\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u3066\u3001\u91cd\u8907\u3057\u305f\u65ad\u7247\u304c\u3069\u3053\u306b\u5b58\u5728\u3059\u308b\u304b\u3092\u8996\u899a\u7684\u306b\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb:<br>\u304a\u5b50\u69d8\u306b\u8ee2\u5ea7\u7531\u6765\u306e\u30c8\u30ea\u30bd\u30df\u30fc\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u3001\u89aa\u306e\u4fdd\u56e0\u72b6\u614b\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u306f\u3001\u5bb6\u65cf\u8a08\u753b\u4e0a\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u304a\u3044\u3066\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u753b\u50cf\u8a3a\u65ad\uff08MRI \/ \u30a8\u30b3\u30fc\uff09:<br>\u8133\u3001\u5fc3\u81d3\u3001\u814e\u81d3\u306e\u5408\u4f75\u75c7\u3092\u691c\u7d22\u3059\u308b\u305f\u3081\u306b\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u300c\u67d3\u8272\u4f53\u306e\u91cd\u8907\u3092\u6cbb\u3059\u300d\u65b9\u6cd5\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u3002\u6cbb\u7642\u306f\u3001\u5404\u75c7\u72b6\u306b\u5bfe\u3059\u308b**\u300c\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5bfe\u75c7\u7642\u6cd5\u300d**\u3068\u3001\u6a5f\u80fd\u7dad\u6301\u3092\u76ee\u6307\u3059\u9577\u671f\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5916\u79d1\u7684\u30fb\u6574\u5f62\u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6574\u5f62\u5916\u79d1\u7684\u4ecb\u5165:<\/strong> \u95a2\u7bc0\u62d8\u7e2e\u3084\u5185\u53cd\u8db3\u306b\u5bfe\u3057\u3001\u65e9\u671f\u304b\u3089\u306e\u30de\u30c3\u30b5\u30fc\u30b8\u3001\u30ae\u30d7\u30b9\u56fa\u5b9a\u3001\u3042\u308b\u3044\u306f\u5916\u79d1\u7684\u306a\u8171\u5ef6\u9577\u8853\u3001\u95a2\u7bc0\u6388\u52d5\u8853\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u81d3\u624b\u8853:<\/strong> \u5148\u5929\u6027\u5fc3\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u3001\u5faa\u74b0\u5668\u5c02\u9580\u533b\u306b\u3088\u308b\u7ba1\u7406\u4e0b\u3067\u3001\u9069\u5207\u306a\u6642\u671f\u306b\u77ef\u6b63\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f62\u6210\u5916\u79d1:<\/strong> \u53e3\u84cb\u88c2\u304c\u3042\u308b\u5834\u5408\u306e\u624b\u8853\u3084\u3001\u9854\u9762\u5f62\u614b\u306b\u95a2\u3059\u308b\u76f8\u8ac7\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u9054\u652f\u63f4\u30fb\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong> \u95a2\u7bc0\u62d8\u7e2e\u306e\u6539\u5584\u3068\u3001\u904b\u52d5\u80fd\u529b\u306e\u7372\u5f97\u3092\u76ee\u6307\u3057\u305f\u8a13\u7df4\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u624b\u5148\u306e\u6a5f\u80fd\u3084\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\uff08ADL\uff09\u306e\u8a13\u7df4\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09:<\/strong> \u6442\u98df\u56a5\u4e0b\u969c\u5bb3\uff08\u98f2\u307f\u8fbc\u307f\u306e\u96e3\u3057\u3055\uff09\u306e\u6539\u5584\u3001\u304a\u3088\u3073\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\uff08\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09\u306e\u7372\u5f97\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5185\u79d1\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6804\u990a\u7ba1\u7406:<\/strong> \u5438\u3044\u8fbc\u3080\u529b\u304c\u5f31\u3044\u3001\u3042\u308b\u3044\u306f\u53e3\u84cb\u88c2\u304c\u3042\u308b\u5834\u5408\u3001\u7d4c\u7ba1\u6804\u990a\u3084\u7279\u5225\u306a\u4e73\u9996\u306e\u4f7f\u7528\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\u306e\u6cbb\u7642:<\/strong> \u767a\u75c7\u3057\u305f\u5834\u5408\u306f\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5bb6\u65cf\u3078\u306e\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5e0c\u5c11\u75be\u60a3\u3086\u3048\u306e\u60c5\u5831\u4e0d\u8db3\u306b\u5bfe\u3059\u308b\u652f\u63f4\u3001\u5fc3\u7406\u7684\u30b1\u30a2\u3001\u304a\u3088\u3073\u5730\u57df\u306e\u798f\u7949\u30b5\u30fc\u30d3\u30b9\uff08\u7642\u80b2\u30bb\u30f3\u30bf\u30fc\u306a\u3069\uff09\u3078\u306e\u6a4b\u6e21\u3057\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\u3001**\u300c\u91cd\u8907\u3057\u3066\u3044\u308b\u9818\u57df\u306e\u30b5\u30a4\u30ba\u300d\u304a\u3088\u3073\u300c\u91cd\u8981\u81d3\u5668\uff08\u5fc3\u81d3\u3001\u8133\u3001\u814e\u81d3\uff09\u306e\u5408\u4f75\u75c7\u306e\u91cd\u75c7\u5ea6\u300d**\u306b\u5927\u304d\u304f\u5de6\u53f3\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u751f\u5b58\u671f\u9593:<\/strong> \u91cd\u7be4\u306a\u5185\u90e8\u5947\u5f62\u304c\u9069\u5207\u306b\u7ba1\u7406\u3055\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><strong>\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09:<\/strong> \u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u305f\u3081\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u8eab\u306e\u56de\u308a\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u3068\u306a\u308a\u307e\u3059\u304c\u3001\u65e9\u671f\u304b\u3089\u306e\u7a4d\u6975\u7684\u306a\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3068\u6559\u80b2\u652f\u63f4\u306b\u3088\u308a\u3001\u500b\u3005\u306e\u30da\u30fc\u30b9\u3067\u6210\u9577\u3057\u3001\u5bb6\u65cf\u3084\u5468\u56f2\u3068\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u697d\u3057\u3080\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>Partial Trisomy 6q syndrome\uff086q\u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc\u75c7\u5019\u7fa4\uff09\u306f\u30016\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306b\u3042\u308b\u300c\u4f53\u306e\u8a2d\u8a08\u56f3\u300d\u304c\u3001\u4e00\u90e8\u3060\u3051\u4f59\u5206\u306b\u5b58\u5728\u3059\u308b\u3053\u3068\u3067\u3001\u8d64\u3061\u3083\u3093\u306e\u6210\u9577\u3084\u767a\u9054\u306b\u3055\u307e\u3056\u307e\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u3092\u6301\u3064\u304a\u5b50\u69d8\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u95a2\u7bc0\u304c\u786c\u304b\u3063\u305f\u308a\uff08\u95a2\u7bc0\u62d8\u7e2e\uff09\u3001\u5fc3\u81d3\u306b\u75be\u60a3\u304c\u3042\u3063\u305f\u308a\u3001\u77e5\u7684\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u3044\u3046\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u5c11\u3057\u30bf\u30ec\u76ee\u3067\u5e73\u5766\u306a\u3001\u975e\u5e38\u306b\u7a4f\u3084\u304b\u3067\u72ec\u7279\u306a\u9854\u7acb\u3061\u3092\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u67d3\u8272\u4f53\u306e\u75c5\u6c17\u300d\u3068\u805e\u304f\u3068\u3001\u3054\u5bb6\u65cf\u306f\u5c06\u6765\u3078\u306e\u5927\u304d\u306a\u4e0d\u5b89\u3092\u62b1\u304b\u308c\u308b\u3053\u3068\u3067\u3057\u3087\u3046\u3002\u3057\u304b\u3057\u3001\u73fe\u4ee3\u306e\u533b\u7642\u3067\u306f\u3001\u6574\u5f62\u5916\u79d1\u7684\u306a\u30a2\u30d7\u30ed\u30fc\u30c1\u3084\u5fc3\u81d3\u624b\u8853\u3001\u305d\u3057\u3066\u65e9\u671f\u304b\u3089\u306e\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u306b\u3088\u3063\u3066\u3001\u304a\u5b50\u69d8\u306e\u62b1\u3048\u308b\u56f0\u96e3\u3092\u8efd\u6e1b\u3057\u3001\u53ef\u80fd\u6027\u3092\u5e83\u3052\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u60c5\u5831\u306e\u5c11\u306a\u3044\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u304c\u3001\u5c02\u9580\u533b\u306e\u30c1\u30fc\u30e0\u3068\u624b\u3092\u53d6\u308a\u5408\u3044\u3001\u304a\u5b50\u69d8\u304c\u6301\u3064\u4e00\u3064\u3072\u3068\u3064\u306e\u300c\u3067\u304d\u305f\u300d\u3092\u5927\u5207\u306b\u3057\u306a\u304c\u3089\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>Robertson, K. P., et al.<\/strong> (1975). <em>Partial trisomy 6q: a clinically recognizable syndrome.<\/em> Clinical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff086q\u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc\u3092\u81e8\u5e8a\u7684\u306a\u75c7\u5019\u7fa4\u3068\u3057\u3066\u521d\u3081\u3066\u4f53\u7cfb\u5316\u3057\u305f\u91cd\u8981\u306a\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Tinkle, B. T., et al.<\/strong> (2003). <em>Distal trisomy 6q phenotype-genotype correlations.<\/em> American Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u91cd\u8907\u9818\u57df\u3068\u81e8\u5e8a\u75c7\u72b6\u306e\u95a2\u4fc2\u3092\u8a73\u7d30\u306b\u5206\u6790\u3057\u305f\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Engelen, J. J., et al.<\/strong> (1997). <em>The critical region of the trisomy 6q syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff086q\u30c8\u30ea\u30bd\u30df\u30fc\u306b\u304a\u3044\u3066\u3001\u3069\u306e\u9818\u57df\u304c\u91cd\u7be4\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u300c\u8cac\u4efb\u9818\u57df\u300d\u3067\u3042\u308b\u304b\u3092\u7d5e\u308a\u8fbc\u3093\u3060\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Trisomy 6q (Partial)<\/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>6q duplications: 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\u304b\u3064\u6e29\u304b\u307f\u306e\u3042\u308b\u30ac\u30a4\u30c9\u8cc7\u6599\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Orphanet<\/strong>: <em>Trisomy 6q (ORPHA:96144)<\/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\u3068\u30ea\u30bd\u30fc\u30b9\u60c5\u5831\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Zneimer, S. M., et al.<\/strong> (1998). <em>Microduplication of 6q25-qter: array CGH and clinical report.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08<strong>\u5fae\u5c0f<\/strong>\u91cd\u8907\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b\u30a2\u30ec\u30a4CGH\u306e\u6709\u7528\u6027\u3092\u793a\u3057\u305f\u75c7\u4f8b\u5831\u544a\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-17414","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\/17414","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\/17414\/revisions"}],"predecessor-version":[{"id":17416,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17414\/revisions\/17416"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17414"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}