{"id":17406,"date":"2026-01-22T03:42:35","date_gmt":"2026-01-22T03:42:35","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17406"},"modified":"2026-01-22T03:43:11","modified_gmt":"2026-01-22T03:43:11","slug":"partial-monosomy-13q-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/partial-monosomy-13q-syndrome\/","title":{"rendered":"Partial Monosomy 13q 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>13q\u6b20\u5931\u75c7\u5019\u7fa4\uff0813q deletion syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>13q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\uff0813q terminal deletion syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>13\u756a\u67d3\u8272\u4f53\u9577\u8155\u90e8\u5206\u30e2\u30ce\u30bd\u30df\u30fc<\/strong><\/li>\n\n\n\n<li><strong>RB1\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u7db2\u819c\u82bd\u7d30\u80de\u816b\u3092\u4f34\u3046\u5834\u5408\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>13\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff09\u306e\u7279\u5b9a\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931<\/strong><\/p>\n\n\n\n<p>13q\u90e8\u5206\u30e2\u30ce\u30bd\u30df\u30fc\u75c7\u5019\u7fa4\u306f\u300113\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306e\u4e00\u90e8\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u81e8\u5e8a\u7684\u306b\u306f\u3001\u6b20\u5931\u90e8\u4f4d\u306b\u3088\u3063\u3066\u5927\u304d\u304f3\u3064\u306e\u30b0\u30eb\u30fc\u30d7\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30b0\u30eb\u30fc\u30d71\uff1a\u8fd1\u4f4d\u90e8\u6b20\u5931\uff0813q14\u9818\u57df\u3092\u542b\u3080\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6700\u3082\u6ce8\u76ee\u3055\u308c\u308b\u9818\u57df\u3067\u3001\u764c\u6291\u5236\u907a\u4f1d\u5b50\u3067\u3042\u308b<em>RB1<\/em>\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30b0\u30eb\u30fc\u30d72\uff1a\u4e2d\u9593\u90e8\u6b20\u5931\uff0813q14\u3088\u308a\u9060\u4f4d\u300113q32\u3092\u542b\u307e\u306a\u3044\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6bd4\u8f03\u7684\u75c7\u72b6\u304c\u30de\u30a4\u30eb\u30c9\u306a\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u77e5\u7684\u969c\u5bb3\u3084\u6210\u9577\u969c\u5bb3\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30b0\u30eb\u30fc\u30d73\uff1a\u9060\u4f4d\u90e8\u6b20\u5931\uff0813q32\u9818\u57df\u3092\u542b\u3080\u672b\u7aef\u6b20\u5931\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6700\u3082\u91cd\u7be4\u306a\u5f62\u614b\u7570\u5e38\uff08\u8133\u3001\u6d88\u5316\u5668\u3001\u624b\u8db3\uff09\u3092\u4f34\u3046\u50be\u5411\u304c\u3042\u308a\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>\u4e0d\u660e\uff08\u5e0c\u5c11\u75be\u60a3\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u63a8\u5b9a:<\/strong> \u6b63\u78ba\u306a\u7d71\u8a08\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u67d3\u8272\u4f53\u7570\u5e38\u5168\u4f53\u306e\u4e2d\u3067\u306f\u6bd4\u8f03\u7684\u7a00\u306a\u90e8\u985e\u306b\u5165\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad\u306e\u50be\u5411:<\/strong> \u4ee5\u524d\u306f\u6838\u578b\u5206\u6790\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u898b\u3064\u304b\u308b\u5927\u304d\u306a\u6b20\u5931\u304c\u4e3b\u3067\u3057\u305f\u304c\u3001\u73fe\u5728\u306f\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u306b\u3088\u308a\u3001\u3053\u308c\u307e\u3067\u898b\u9003\u3055\u308c\u3066\u3044\u305f<strong>\u5fae\u5c0f\u6b20\u5931<\/strong>\u304c\u591a\u6570\u767a\u898b\u3055\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee:<\/strong> \u6027\u5225\u306b\u3088\u308b\u983b\u5ea6\u306e\u5dee\u306f\u306a\u304f\u3001\u7537\u5973\u3068\u3082\u306b\u767a\u75c7\u3057\u307e\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>13q\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\uff08De novo deletion\uff09\uff1a\u7d0480%\u4ee5\u4e0a<br>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u53d7\u7cbe\u5375\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5f8c\u306e\u521d\u671f\u5206\u88c2\u306b\u304a\u3044\u3066\u5076\u7136\u306b\u5fae\u5c0f\u6b20\u5931\u304c\u751f\u3058\u305f\u3082\u306e\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\u300d\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3001\u6b21\u5b50\u306b\u4e0d\u5747\u8861\u306a\u5f62\u3067\u67d3\u8272\u4f53\u304c\u53d7\u3051\u7d99\u304c\u308c\u300113q\u306e\u4e00\u90e8\u3092\u6b20\u640d\u3057\u305f\u72b6\u614b\u3067\u751f\u307e\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u74b0\u72b613\u756a\u67d3\u8272\u4f53\uff08Ring chromosome 13\uff09:<br>13\u756a\u67d3\u8272\u4f53\u304c\u8f2a\u306e\u5f62\uff08\u74b0\u72b6\uff09\u306b\u306a\u308b\u969b\u3001\u4e21\u7aef\u306e\u672b\u7aef\u90e8\u5206\uff08p\u672b\u7aef\u3068q\u672b\u7aef\uff09\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u5834\u5408\u300113q34\u4ed8\u8fd1\u306e\u6b20\u5931\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n<\/ol>\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>\u6b20\u5931\u3057\u3066\u3044\u308b\u9818\u57df\uff08\u907a\u4f1d\u5b50\u306e\u7a2e\u985e\uff09\u306b\u3088\u3063\u3066\u75c7\u72b6\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u30b5\u30a4\u30c8\u5229\u7528\u8005\u3078\u306e\u5229\u4fbf\u6027\u3092\u8003\u616e\u3057\u3001\u4e3b\u8981\u306a\u75c7\u72b6\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u767a\u9054\u3068\u77e5\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\u969c\u5bb3\u304c\u898b\u3089\u308c\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\u9996\u3059\u308f\u308a\u3084\u304a\u5ea7\u308a\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u304c\u9045\u308c\u308b\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u982d\u75c7:<\/strong> \u8133\u306e\u5bb9\u7a4d\u304c\u5c0f\u3055\u304f\u3001\u982d\u56f2\u304c\u6a19\u6e96\u3092\u4e0b\u56de\u308b\u3053\u3068\u304c\u591a\u304f\u8a8d\u3081\u3089\u308c\u307e\u3059\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<ul class=\"wp-block-list\">\n<li><strong>\u9ad8\u3044\u984d:<\/strong> \u984d\u304c\u5e83\u304f\u3001\u524d\u306b\u7a81\u304d\u51fa\u3057\u3066\u3044\u308b\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\u4e0b\u5782:<\/strong> \u307e\u3076\u305f\u304c\u5782\u308c\u4e0b\u304c\u308b\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>\u8033:<\/strong> \u4f4e\u4f4d\u4ed8\u7740\u8033\u3001\u3042\u308b\u3044\u306f\u8033\u4ecb\u306e\u5909\u5f62\u3002<\/li>\n\n\n\n<li><strong>\u7a81\u304d\u51fa\u305f\u524d\u6b6f:<\/strong> \u4e0a\u306e\u6b6f\u304c\u524d\u65b9\u306b\u51fa\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u9818\u57df\u7279\u7570\u7684\u306a\u91cd\u8981\u75c7\u72b6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7db2\u819c\u82bd\u7d30\u80de\u816b\uff08Retinoblastoma\uff09:<br>13q14.2\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308bRB1\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u5834\u5408\u3001\u5c0f\u5150\u671f\u306b\u773c\u306e\u304c\u3093\u3067\u3042\u308b\u7db2\u819c\u82bd\u7d30\u80de\u816b\u3092\u767a\u75c7\u3059\u308b\u30ea\u30b9\u30af\u304c\u6975\u3081\u3066\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u9818\u57df\u306e\u30e2\u30ce\u30bd\u30df\u30fc\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u773c\u79d1\u7684\u306a\u8d85\u53b3\u91cd\u76e3\u8996\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5168\u524d\u8133\u75c7\uff08Holoprosencephaly\uff09:<br>13q32.2\u9818\u57df\u304c\u542b\u307e\u308c\u308b\u6b20\u5931\u3067\u306f\u3001\u80ce\u5150\u671f\u306b\u8133\u304c\u5de6\u53f3\u306b\u5206\u304b\u308c\u306a\u3044\u91cd\u7be4\u306a\u5947\u5f62\u3067\u3042\u308b\u5168\u524d\u8133\u75c7\u3092\u6765\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u624b\u8db3\u306e\u7570\u5e38:<br>\u89aa\u6307\u306e\u6b20\u640d\u307e\u305f\u306f\u4f4e\u5f62\u6210\uff08Hypoplastic thumbs\uff09\u3001\u7b2c5\u6307\u306e\u5185\u6e7e\u3001\u8db3\u306e\u6307\u306e\u7652\u5408\u306a\u3069\u304c\u3001\u7279\u306b\u9060\u4f4d\u90e8\u306e\u6b20\u5931\u3067\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6d88\u5316\u5668\u30fb\u6ccc\u5c3f\u751f\u6b96\u5668\u5947\u5f62:<br>\u9396\u809b\u3001\u5e7d\u9580\u72ed\u7a84\u75c7\u3001\u814e\u6b20\u640d\u3001\u5c3f\u9053\u4e0b\u88c2\uff08\u7537\u5150\uff09\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u81e8\u5e8a\u75c7\u72b6\u3001\u7279\u306b\u7db2\u819c\u82bd\u7d30\u80de\u816b\u3084\u6307\u306e\u7570\u5e38\u3001\u77e5\u7684\u969c\u5bb3\u306e\u7d44\u307f\u5408\u308f\u305b\u304b\u3089\u672c\u75c7\u5019\u7fa4\u3092\u7591\u3044\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u884c\u3044\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\uff1a<br>\u78ba\u5b9a\u8a3a\u65ad\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3067\u3059\u300213q\u306e\u3069\u306e\u9818\u57df\u304c\u3001\u3069\u306e\u7a0b\u5ea6\u306e\u30b5\u30a4\u30ba\u3067\u6b20\u3051\u3066\u3044\u308b\u304b\uff08\u5fae\u5c0f\u6b20\u5931\u306e\u7bc4\u56f2\uff09\u3092\u7cbe\u5bc6\u306b\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u7db2\u819c\u82bd\u7d30\u80de\u816b\u306e\u30ea\u30b9\u30af\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u3092\u4e88\u6e2c\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u67d3\u8272\u4f53\u6838\u578b\u5206\u6790\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\uff1a<br>\u6bd4\u8f03\u7684\u5927\u304d\u306a\u6b20\u5931\u3084\u3001\u8ee2\u5ea7\u3001\u74b0\u72b6\u67d3\u8272\u4f53\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u773c\u79d1\u7684\u691c\u67fb\uff08\u773c\u5e95\u691c\u67fb\uff09\uff1a<br>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u969b\u3001\u3042\u308b\u3044\u306f13q14\u9818\u57df\u306e\u6b20\u5931\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u3001\u76f4\u3061\u306b\u773c\u816b\u760d\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u753b\u50cf\u8a3a\u65ad\uff08MRI \/ \u30a8\u30b3\u30fc\uff09\uff1a<br>\u8133\u306e\u69cb\u9020\u7570\u5e38\uff08\u5168\u524d\u8133\u75c7\u3084\u8133\u6881\u6b20\u640d\uff09\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3001\u814e\u5947\u5f62\u306e\u691c\u7d22\u306e\u305f\u3081\u306b\u884c\u308f\u308c\u307e\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>\u73fe\u4ee3\u306e\u533b\u5b66\u306b\u304a\u3044\u3066\u3001\u5931\u308f\u308c\u305f\u67d3\u8272\u4f53\u9818\u57df\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6cbb\u7642\u306f\u3001\u5408\u4f75\u75c7\u306e\u7ba1\u7406\u3068\u767a\u9054\u652f\u63f4\u3092\u4e2d\u5fc3\u3068\u3057\u305f**\u300c\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5bfe\u75c7\u7642\u6cd5\u300d**\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u773c\u79d1\u7684\u6cbb\u7642\u30fb\u7ba1\u7406\uff08\u6700\u512a\u5148\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7db2\u819c\u82bd\u7d30\u80de\u816b\u306e\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9:<\/strong> <em>RB1<\/em>\u907a\u4f1d\u5b50\u9818\u57df\u306e\u6b20\u5931\u304c\u3042\u308b\u5834\u5408\u3001\u751f\u5f8c\u3059\u3050\u304b\u3089\u6570\u30f6\u6708\u304a\u304d\u306b\u5b9a\u671f\u7684\u306a\u773c\u5e95\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u304c\u3093\u6cbb\u7642:<\/strong> \u816b\u760d\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u306f\u3001\u30ec\u30fc\u30b6\u30fc\u6cbb\u7642\u3001\u5316\u5b66\u7642\u6cd5\u3001\u51cd\u7d50\u7642\u6cd5\u3001\u3042\u308b\u3044\u306f\u773c\u7403\u6458\u51fa\u8853\u306a\u3069\u3001\u816b\u760d\u306e\u9032\u884c\u5ea6\u306b\u5408\u308f\u305b\u305f\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6d88\u5316\u5668\u30fb\u6ccc\u5c3f\u5668:<\/strong> \u9396\u809b\u3084\u5c3f\u9053\u4e0b\u88c2\u306b\u5bfe\u3059\u308b\u5f62\u6210\u624b\u8853\u3002<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1:<\/strong> \u89aa\u6307\u306e\u518d\u5efa\u8853\u3084\u3001\u8db3\u306e\u5909\u5f62\u306b\u5bfe\u3059\u308b\u77ef\u6b63\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u81d3\u624b\u8853:<\/strong> \u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08\u4e2d\u9694\u6b20\u640d\u306a\u3069\uff09\u304c\u3042\u308b\u5834\u5408\u3001\u5916\u79d1\u7684\u77ef\u6b63\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u767a\u9054\u652f\u63f4\u30fb\u7642\u80b2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u4ecb\u5165:<\/strong> \u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09\u3092\u7d44\u307f\u5408\u308f\u305b\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u904b\u52d5\u767a\u9054\u9045\u6ede\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u56f0\u96e3\u3055\u3092\u30b5\u30dd\u30fc\u30c8\u3057\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. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u3092\u8a55\u4fa1\u3059\u308b\u305f\u3081\u3001\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08\u8ee2\u5ea7\u4fdd\u56e0\u8005\u306e\u78ba\u8a8d\uff09\u3068\u5c02\u9580\u7684\u306a\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u4e0d\u53ef\u6b20\u3067\u3059\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\u6b20\u5931\u306e\u7bc4\u56f2\u300d\u3068\u300c\u7db2\u819c\u82bd\u7d30\u80de\u816b\u306e\u6709\u7121\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> 13q32\u9818\u57df\u3092\u542b\u3080\u91cd\u7be4\u306a\u8133\u30fb\u5185\u81d3\u5947\u5f62\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u4e73\u5e7c\u5150\u671f\u306e\u4e88\u5f8c\u304c\u53b3\u3057\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u305d\u308c\u4ee5\u5916\u306e\u9818\u57df\u306e\u6b20\u5931\u3067\u3001\u5408\u4f75\u75c7\u304c\u9069\u5207\u306b\u7ba1\u7406\u3055\u308c\u3066\u3044\u308c\u3070\u3001\u6210\u4eba\u671f\u3092\u8fce\u3048\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09:<\/strong> \u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u3088\u308a\u307e\u3059\u304c\u3001\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u3068\u9069\u5207\u306a\u74b0\u5883\u8abf\u6574\u306b\u3088\u308a\u3001\u305d\u308c\u305e\u308c\u306e\u30da\u30fc\u30b9\u3067\u751f\u6d3b\u80fd\u529b\u3092\u7372\u5f97\u3057\u3066\u3044\u304d\u307e\u3059\u3002\u7db2\u819c\u82bd\u7d30\u80de\u816b\u3092\u65e9\u671f\u306b\u767a\u898b\u30fb\u6cbb\u7642\u3057\u3001\u8996\u899a\u3092\u5b88\u308b\u3053\u3068\u3082QOL\u306b\u304a\u3044\u3066\u6975\u3081\u3066\u91cd\u8981\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 Monosomy 13q syndrome\uff0813q\u90e8\u5206\u30e2\u30ce\u30bd\u30df\u30fc\u75c7\u5019\u7fa4\uff09\u306f\u300113\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306b\u3042\u308b\u5927\u5207\u306a\u8a2d\u8a08\u56f3\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>\u3053\u306e\u75c5\u6c17\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001\u300c\u3069\u306e\u90e8\u5206\u304c\u6b20\u3051\u3066\u3044\u308b\u304b\u300d\u306b\u3088\u3063\u3066\u75c7\u72b6\u304c\u5168\u304f\u7570\u306a\u308b\u70b9\u306b\u3042\u308a\u307e\u3059\u3002\u3042\u308b\u304a\u5b50\u69d8\u3067\u306f\u76ee\u306e\u304c\u3093\uff08\u7db2\u819c\u82bd\u7d30\u80de\u816b\uff09\u306e\u30ea\u30b9\u30af\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u3001\u5225\u306e\u304a\u5b50\u69d8\u3067\u306f\u8133\u3084\u624b\u8db3\u306e\u5f62\u306b\u7279\u5fb4\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u306f\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u306b\u3088\u3063\u3066\u3001\u6b20\u3051\u3066\u3044\u308b\u90e8\u5206\u3092\u975e\u5e38\u306b\u8a73\u3057\u304f\u8abf\u3079\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u305f\u3081\u3001\u5c06\u6765\u8d77\u3053\u308a\u3046\u308b\u30ea\u30b9\u30af\u3092\u4e88\u6e2c\u3057\u3001\u65e9\u671f\u306b\u5bfe\u7b56\u3092\u7acb\u3066\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u969b\u3001\u3054\u5bb6\u65cf\u306f\u4e0d\u5b89\u306b\u601d\u308f\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u773c\u79d1\u3001\u5c0f\u5150\u79d1\u3001\u795e\u7d4c\u79d1\u3001\u305d\u3057\u3066\u767a\u9054\u652f\u63f4\u306e\u5c02\u9580\u5bb6\u304c\u30c1\u30fc\u30e0\u3092\u7d44\u3093\u3067\u3001\u304a\u5b50\u69d8\u3092\u5168\u529b\u3067\u30b5\u30dd\u30fc\u30c8\u3057\u3066\u3044\u304d\u307e\u3059\u3002\u4e00\u3064\u3072\u3068\u3064\u306e\u75c7\u72b6\u306b\u4e01\u5be7\u306b\u5411\u304d\u5408\u3044\u3001\u304a\u5b50\u69d8\u306e\u6b69\u307f\u3092\u5171\u306b\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>Allderdice, P. W., et al.<\/strong> (1969). <em>The 13q- deletion syndrome.<\/em> American Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff0813q\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u521d\u671f\u306e\u75c7\u4f8b\u5831\u544a\u3068\u75c7\u5019\u7fa4\u3068\u3057\u3066\u306e\u5b9a\u7fa9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Brown, S., et al.<\/strong> (1993). <em>Molecular characterization of the 13q deletion syndrome.<\/em> American Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff0813q\u6b20\u5931\u306e\u7bc4\u56f2\u3068\u81e8\u5e8a\u75c7\u72b6\u306e\u76f8\u95a2\uff08\u30d5\u30a7\u30ce\u30bf\u30a4\u30d7\u30fb\u30b8\u30a7\u30ce\u30bf\u30a4\u30d7\u76f8\u95a2\uff09\u3092\u5206\u5b50\u30ec\u30d9\u30eb\u3067\u89e3\u6790\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Lohmann, D. R., &amp; Gallie, B. L.<\/strong> (2004). <em>Retinoblastoma.<\/em> GeneReviews\u00ae [Internet].\n<ul class=\"wp-block-list\">\n<li>\uff0813q14\u6b20\u5931\u3092\u542b\u3080\u7db2\u819c\u82bd\u7d30\u80de\u816b\u306e\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>Kirchhoff, M., et al.<\/strong> (2009). <em>Clinical characterization of 13q deletion syndrome: From karyotype to array CGH.<\/em> American Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u30a2\u30ec\u30a4CGH\uff08\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\uff09\u3092\u7528\u3044\u305f13q\u6b20\u5931\u306e\u6700\u65b0\u306e\u8a3a\u65ad\u3068\u81e8\u5e8a\u50cf\u306e\u6574\u7406\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>13q deletions: proximal, intermediate and distal. 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\u6b20\u5931\u90e8\u4f4d\u5225\u306e\u8a73\u7d30\u306a\u5bb6\u65cf\u5411\u3051\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Orphanet<\/strong>: <em>13q deletion syndrome (ORPHA:1552)<\/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>Ballarati, L., et al.<\/strong> (2007). <em>13q34 microdeletion syndrome: a recognizable clinical entity.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff0813q\u672b\u7aef\u9818\u57df\uff0813q34\uff09\u306b\u7279\u5316\u3057\u305f\u81e8\u5e8a\u7684\u7279\u5fb4\u306e\u89e3\u6790\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-17406","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\/17406","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\/17406\/revisions"}],"predecessor-version":[{"id":17408,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17406\/revisions\/17408"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17406"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}