{"id":16604,"date":"2026-01-19T06:14:58","date_gmt":"2026-01-19T06:14:58","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16604"},"modified":"2026-01-19T06:14:58","modified_gmt":"2026-01-19T06:14:58","slug":"13q14-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/13q14-deletion-syndrome\/","title":{"rendered":"13q14 deletion 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>13q14 deletion syndrome<\/li>\n\n\n\n<li>Chromosome 13q14 deletion syndrome<\/li>\n\n\n\n<li>Monosomy 13q14 syndrome<\/li>\n\n\n\n<li>Chromosome 13q deletion syndrome\uff0813q\u6b20\u5931\u75c7\u5019\u7fa4\uff09<\/li>\n\n\n\n<li>Partial monosomy 13q14<br>\u3053\u308c\u3089\u306e\u547c\u3073\u540d\u306f\u540c\u69d8\u306b <strong>13\u756a\u67d3\u8272\u4f53 q14 \u90e8\u5206\u6b20\u5931<\/strong> \u306b\u7531\u6765\u3057\u307e\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/462652?utm_source=chatgpt.com\">NCBI<\/a>)<\/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>\u672c\u75be\u60a3\u306f <strong>13\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\uff09\u306e\u3046\u3061 13q14 \u9818\u57df<\/strong> \u306b\u90e8\u5206\u7684\u306a\u6b20\u5931\u304c\u8d77\u3053\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<br>\u3053\u306e\u9818\u57df\u306b\u306f\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3001\u7279\u306b <strong>Rb\uff08Retinoblastoma 1\uff09\u907a\u4f1d\u5b50<\/strong> \u306a\u3069\u816b\u760d\u6291\u5236\u56e0\u5b50\u304c\u5b58\u5728\u3059\u308b\u305f\u3081\u3001\u305d\u306e\u6b20\u5931\u306b\u3088\u308a\u7db2\u819c\u82bd\u7d30\u80de\u816b\uff08retinoblastoma\uff09\u306a\u3069\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/minerva-clinic.or.jp\/chromosome-2\/chr13\/13q14\/?utm_source=chatgpt.com\">\u6771\u4eac\u30fb\u30df\u30cd\u30eb\u30d0\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/p>\n\n\n\n<p>\u6b20\u5931\u306f\u901a\u5e38 <strong>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\uff09<\/strong> \u3068\u3057\u3066\u8d77\u3053\u308a\u307e\u3059\u304c\u3001\u307e\u308c\u306b\u89aa\u304b\u3089\u306e\u69cb\u9020\u7570\u5e38\u306e\u4f1d\u9054\u3068\u3057\u3066\u73fe\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/462652?utm_source=chatgpt.com\">NCBI<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p>13q14 deletion syndrome \u306f <strong>\u6975\u3081\u3066\u7a00\u306a\u5148\u5929\u6027\u67d3\u8272\u4f53\u7570\u5e38\u75be\u60a3<\/strong> \u3067\u3042\u308a\u3001\u660e\u78ba\u306a\u51fa\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<br>\u5831\u544a\u4f8b\u306f\u5c11\u306a\u304f\u3001\u56fd\u969b\u7684\u306a\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306b\u3082\u75c7\u4f8b\u6570\u304c\u9650\u5b9a\u7684\u306b\u767b\u9332\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001<strong>\u6982\u306d\u975e\u5e38\u306b\u4f4e\u983b\u5ea6\uff08100\u4e07\u4eba\u306b\u6570\u4f8b\u30ec\u30d9\u30eb\uff09<\/strong> \u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.org\/mondo-disease\/chromosome-13q14-deletion-syndrome\/?utm_source=chatgpt.com\">National Organization for Rare Disorders<\/a>)<\/p>\n\n\n\n<p>\u306a\u304a\u3001\u3053\u306e\u6b20\u5931\u304c\u90e8\u5206\u7684\u3067\u6bd4\u8f03\u7684\u5c0f\u3055\u3044\u5834\u5408\uff08<strong>\u5fae\u5c0f\u6b20\u5931\/ microdeletion<\/strong>) \u3068\u3001\u3088\u308a\u5927\u304d\u306a\u9818\u57df\u304c\u6b20\u5931\u3059\u308b\u5834\u5408\u3067\u306f\u3001\u75c7\u72b6\u30fb\u5408\u4f75\u75c7\u3084\u81e8\u5e8a\u50cf\u306e\u91cd\u3055\u304c\u7570\u306a\u308a\u3001\u5f8c\u8005\u3067\u306f\u8ffd\u52a0\u306e\u5408\u4f75\u75c7\u304c\u751f\u3058\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002(<a href=\"https:\/\/en.wikipedia.org\/wiki\/13q_deletion_syndrome?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a>)<\/p>\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\u7bc4\u56f2\u3084\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u8868\u73fe\u578b\u306f\u591a\u69d8\u3067\u3059\u304c\u3001\u4ee3\u8868\u7684\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4e3b\u306a\u75c7\u72b6\u30fb\u6240\u898b\u3092\u4e0b\u8a18\u306b\u6574\u7406\u3057\u307e\u3059\uff1a<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u9045\u5ef6\u30fb\u77e5\u7684\u6a5f\u80fd\u306e\u5f71\u97ff<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u5ef6<\/strong>\uff08motor\u30fb\u8a00\u8a9e\u30fb\u793e\u4f1a\u6027\u306a\u3069\uff09<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3<\/strong>\uff08\u8efd\u5ea6\u301c\u91cd\u5ea6\u307e\u3067\u5e45\u5e83\u3044\uff09<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u904b\u52d5\u9045\u6ede<\/strong>\uff08psychomotor delay\uff09<br>13q14 deletion \u3067\u306f\u5e83\u3044\u7bc4\u56f2\u306e\u767a\u9054\u8ab2\u984c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u5e7c\u5150\u671f\u304b\u3089\u7642\u80b2\u652f\u63f4\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/462652?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7db2\u819c\u82bd\u7d30\u80de\u816b\uff08Retinoblastoma\uff09<\/strong><\/p>\n\n\n\n<p>13q14\u9818\u57df\u306b\u306f <strong>\u7db2\u819c\u82bd\u7d30\u80de\u816b\uff08Rb1\uff09\u907a\u4f1d\u5b50<\/strong> \u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3092\u542b\u3080\u4f8b\u3067\u306f <strong>\u5c0f\u5150\u671f\u306b\u7db2\u819c\u82bd\u7d30\u80de\u816b\u3092\u767a\u75c7\u3059\u308b\u30ea\u30b9\u30af\u304c\u5927\u5e45\u306b\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002<\/strong>(<a href=\"https:\/\/minerva-clinic.or.jp\/chromosome-2\/chr13\/13q14\/?utm_source=chatgpt.com\">\u6771\u4eac\u30fb\u30df\u30cd\u30eb\u30d0\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<br>\u7db2\u819c\u82bd\u7d30\u80de\u816b\u306f\u901a\u5e38\u751f\u5f8c\u6570\u30f6\u6708\u301c5\u6b73\u9803\u306b\u767a\u75c7\u3059\u308b\u60aa\u6027\u7db2\u819c\u816b\u760d\u3067\u3001\u521d\u671f\u306f\u767d\u3044\u77b3\u5b54\u53cd\u5c04\uff08\u767d\u6fc1\u77b3\uff09\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>3. \u9854\u8c8c\u7570\u5e38\u30fb\u982d\u90e8\u7570\u5e38<\/strong><\/p>\n\n\n\n<p>13q deletion \u306e\u7279\u5fb4\u7684\u8868\u73fe\u578b\u3068\u3057\u3066\u3001\u4ee5\u4e0b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9ad8\u3044\u984d\uff08high forehead\uff09<\/li>\n\n\n\n<li>\u773c\u3068\u773c\u306e\u9593\u9694\u304c\u5e83\u3044\uff08hypertelorism\uff09<\/li>\n\n\n\n<li>\u9855\u8457\u306a\u9f3b\u67f1\u3084\u9f3b\u6839\u5e45\u306e\u5e83\u3055<\/li>\n\n\n\n<li>\u539a\u3044\u4e0b\u5507\u3084\u7a81\u51fa\u3057\u305f\u4eba\u4e2d<\/li>\n\n\n\n<li>\u9006\u3055\u307e\u3064\u3052\u3084\u4f4e\u4f4d\u8033<br>\u3053\u308c\u3089\u306f\u5168\u4f53\u3068\u3057\u3066 <strong>\u72ec\u7279\u306e\u9854\u8c8c\u30d1\u30bf\u30fc\u30f3<\/strong> \u3092\u5448\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002(<a href=\"https:\/\/www.malacards.org\/card\/chromosome_13q14_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u8eab\u4f53\u6210\u9577\u30fb\u982d\u56f2<\/strong><\/p>\n\n\n\n<p>\u51fa\u751f\u6642\u4f4e\u4f53\u91cd\u3084 <strong>\u80ce\u5185\u767a\u80b2\u5236\u9650\uff08IUGR\uff09<\/strong>\u3001\u51fa\u751f\u5f8c\u3082 <strong>\u8eab\u9577\u30fb\u4f53\u91cd\u306e\u5897\u52a0\u306e\u9045\u308c\uff08\u4f4e\u8eab\u9577\uff09<\/strong>\u3001<strong>\u5c0f\u982d\u75c7\uff08microcephaly\uff09<\/strong> \u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/en.wikipedia.org\/wiki\/13q_deletion_syndrome?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a>)<\/p>\n\n\n\n<p><strong>5. \u5148\u5929\u6027\u5947\u5f62\u30fb\u5185\u81d3\u7570\u5e38<\/strong><\/p>\n\n\n\n<p>13q14 deletion \u306f\u81d3\u5668\u5f62\u6210\u306b\u3082\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u305f\u3081\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u5408\u4f75\u75c7\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3<\/strong>\uff08\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u3001\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u3001\u52d5\u8108\u7ba1\u958b\u5b58\u306a\u3069\uff09<\/li>\n\n\n\n<li><strong>\u6ccc\u5c3f\u751f\u6b96\u5668\u7570\u5e38<\/strong>\uff08\u505c\u7559\u7cbe\u5de3\u3001\u5c3f\u9053\u4e0b\u88c2\u306a\u3069\uff09<\/li>\n\n\n\n<li><strong>\u814e\u81d3\u30fb\u6d88\u5316\u5668\u306e\u5f62\u6210\u7570\u5e38<\/strong><\/li>\n\n\n\n<li><strong>\u9aa8\u683c\u7570\u5e38\uff08\u4f8b\uff1a\u6307\u30fb\u8db3\u8dbe\u7570\u5e38\u3001\u9aa8\u683c\u5f62\u6210\u7570\u5e38\uff09<\/strong><\/li>\n\n\n\n<li>\u795e\u7d4c\u7cfb\u7570\u5e38\uff08\u8133\u6881\u6b20\u640d\u3001\u8133\u5ba4\u306e\u7570\u5e38\uff09<br>\u3053\u308c\u3089\u306f\u6b20\u5931\u304c\u3088\u308a\u5927\u304d\u3044\u4f8b\u3067\u591a\u69d8\u306b\u898b\u3089\u308c\u308b\u305f\u3081\u3001\u81e8\u5e8a\u50cf\u306f\u500b\u4f53\u5dee\u304c\u5927\u304d\u3044\u3067\u3059\u3002(<a href=\"https:\/\/en.wikipedia.org\/wiki\/13q_deletion_syndrome?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>6. \u8996\u899a\u30fb\u8074\u899a\u30fb\u305d\u306e\u4ed6\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u773c\u306e\u7570\u5e38\uff08\u7db2\u819c\u5f62\u6210\u7570\u5e38\u3001\u659c\u8996\u3001\u5f31\u8996\u306a\u3069\uff09\u3084\u8074\u899a\u969c\u5bb3\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<br>\u307e\u305f\u5408\u4f75\u3066\u3093\u304b\u3093\u767a\u4f5c\u306a\u3069\u795e\u7d4c\u6a5f\u80fd\u7570\u5e38\u304c\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/en.wikipedia.org\/wiki\/13q_deletion_syndrome?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>13q14 deletion syndrome \u306e\u6839\u672c\u539f\u56e0\u306f\u3001<strong>13\u756a\u67d3\u8272\u4f53\u9577\u8155 q14 \u9818\u57df\u306b\u3042\u308b\u67d3\u8272\u4f53\u90e8\u5206\u304c\u6b20\u5931\uff08microdeletion \u307e\u305f\u306f larger deletion\uff09\u3059\u308b\u3053\u3068<\/strong> \u3067\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/462652?utm_source=chatgpt.com\">NCBI<\/a>)<\/p>\n\n\n\n<p>\u3053\u306e\u6b20\u5931\u306b\u3088\u308a\u3001\u305d\u306e\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308b\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c <strong>\u30cf\u30d7\u30ed\u4e0d\u5168\uff08haploinsufficiency\uff09<\/strong> \u72b6\u614b\u3068\u306a\u308a\u3001\u5fc5\u8981\u306a\u907a\u4f1d\u5b50\u7523\u7269\u304c\u5341\u5206\u306b\u751f\u6210\u3055\u308c\u306a\u304f\u306a\u308b\u3053\u3068\u304c\u767a\u75c7\u30e1\u30ab\u30cb\u30ba\u30e0\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.malacards.org\/card\/chromosome_13q14_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/p>\n\n\n\n<p>13q14\u9818\u57df\u306b\u306f <strong>\u816b\u760d\u6291\u5236\u907a\u4f1d\u5b50\uff08Rb1\uff09<\/strong> \u306e\u307f\u306a\u3089\u305a\u3001\u795e\u7d4c\u767a\u9054\u3084\u7d30\u80de\u6210\u9577\u8abf\u7bc0\u306b\u95a2\u9023\u3059\u308b\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c\u5b58\u5728\u3059\u308b\u305f\u3081\u3001\u305d\u306e\u6b20\u5931\u304c <strong>\u8907\u6570\u7cfb\u7d71\u306e\u767a\u9054\u7570\u5e38\u306b\u5f71\u97ff<\/strong>\u3092\u4e0e\u3048\u308b\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.malacards.org\/card\/chromosome_13q14_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/p>\n\n\n\n<p>\u591a\u304f\u306e\u4f8b\u3067\u306f <strong>de novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong> \u3068\u3057\u3066\u767a\u751f\u3057\u3001\u5bb6\u65cf\u5185\u3067\u306e\u907a\u4f1d\u306f\u7a00\u3067\u3059\u3002(<a href=\"https:\/\/rarediseases.org\/mondo-disease\/chromosome-13q14-deletion-syndrome\/?utm_source=chatgpt.com\">National Organization for Rare Disorders<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5\uff08\u6cbb\u7642\u30fb\u7ba1\u7406\uff09<\/strong><\/h2>\n\n\n\n<p>13q14 deletion syndrome \u306b\u5bfe\u3057\u3066\u306f <strong>\u6b20\u5931\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7642\u6cd5\u306f\u73fe\u6642\u70b9\u3067\u5b58\u5728\u3057\u307e\u305b\u3093<\/strong>\u3002<br>\u305d\u306e\u305f\u3081\u3001\u6cbb\u7642\u306f <strong>\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u652f\u6301\u7642\u6cd5\uff08supportive care\uff09<\/strong> \u304a\u3088\u3073\u5305\u62ec\u7684\u306a\u7ba1\u7406\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\uff1a<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08Physical therapy\uff09<\/strong>\uff1a\u904b\u52d5\u767a\u9054\u306e\u4fc3\u9032<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08Speech therapy\uff09<\/strong>\uff1a\u8a00\u8a9e\u9045\u5ef6\u3084\u767a\u8a71\u652f\u63f4<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08Occupational therapy\uff09<\/strong>\uff1a\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u306e\u652f\u63f4<br>\u65e9\u671f\u4ecb\u5165\u7642\u80b2\u304c\u767a\u9054\u4e88\u5f8c\u306e\u6539\u5584\u306b\u5bc4\u4e0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u8996\u899a\u30fb\u8074\u899a\u306e\u8a55\u4fa1\u3068\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1\u30d5\u30a9\u30ed\u30fc<\/strong>\uff1a\u7db2\u819c\u82bd\u7d30\u80de\u816b\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3001\u8996\u529b\u8a55\u4fa1<\/li>\n\n\n\n<li><strong>\u88dc\u8074\u5668\u30fb\u8033\u79d1\u652f\u63f4<\/strong>\uff1a\u8074\u899a\u969c\u5bb3\u3078\u306e\u5bfe\u5fdc<\/li>\n<\/ul>\n\n\n\n<p>\u7db2\u819c\u82bd\u7d30\u80de\u816b\u30ea\u30b9\u30af\u304c\u3042\u308b\u5834\u5408\u3001\u751f\u5f8c\u65e9\u671f\u304b\u3089\u5b9a\u671f\u7684\u306a\u773c\u79d1\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002(<a href=\"https:\/\/minerva-clinic.or.jp\/chromosome-2\/chr13\/13q14\/?utm_source=chatgpt.com\">\u6771\u4eac\u30fb\u30df\u30cd\u30eb\u30d0\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/p>\n\n\n\n<p><strong>3. \u5185\u79d1\u7684\u30fb\u5916\u79d1\u7684\u5bfe\u5fdc<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3<\/strong>\uff1a\u5faa\u74b0\u5668\u5185\u79d1\u30fb\u5fc3\u81d3\u5916\u79d1\u306b\u3088\u308b\u7ba1\u7406<\/li>\n\n\n\n<li><strong>\u6ccc\u5c3f\u751f\u6b96\u5668\u7570\u5e38\u30fb\u6574\u5f62\u5916\u79d1\u7684\u8a55\u4fa1<\/strong>\uff1a\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u624b\u8853\u3084\u30b1\u30a2<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u75c7\u72b6\u7279\u7570\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6442\u98df\u30fb\u6804\u990a\u7ba1\u7406<\/li>\n\n\n\n<li>\u3066\u3093\u304b\u3093 \u767a\u4f5c\u7ba1\u7406\uff08\u6297\u3066\u3093\u304b\u3093\u85ac\u306a\u3069\uff09<\/li>\n\n\n\n<li>\u884c\u52d5\u9762\u30fb\u5fc3\u7406\u7684\u652f\u63f4<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u5b9a\u671f\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7<\/strong><\/p>\n\n\n\n<p>\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf\u306b\u3088\u308b <strong>\u767a\u80b2\u8a55\u4fa1\u3001\u8eab\u4f53\u6a5f\u80fd\u8a55\u4fa1\u3001\u5b66\u7fd2\u304a\u3088\u3073\u793e\u4f1a\u9069\u5fdc\u306e\u8a55\u4fa1<\/strong> \u304c\u91cd\u8981\u3067\u3059\u3002<br>\u591a\u8077\u7a2e\u30c1\u30fc\u30e0\uff08\u5c0f\u5150\u79d1\u3001\u773c\u79d1\u3001\u5faa\u74b0\u5668\u79d1\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3001\u6559\u80b2\u652f\u63f4\u8005\uff09\u306b\u3088\u308b <strong>\u5305\u62ec\u7684\u30b1\u30a2<\/strong> \u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>6. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u518d\u767a\u30ea\u30b9\u30af\u8a55\u4fa1<\/strong>\uff1ade novo\u304c\u591a\u3044\u304c\u3001\u5bb6\u65cf\u6027\u306e\u53ef\u80fd\u6027\u3092\u8a55\u4fa1<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u652f\u63f4\u30fb\u8a08\u753b\u652f\u63f4<\/strong>\uff1a\u5c06\u6765\u306e\u598a\u5a20\u30fb\u5b50\u80b2\u3066\u306b\u95a2\u3059\u308b\u60c5\u5831\u63d0\u4f9b<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p><strong>13q14 deletion syndrome<\/strong> \u306f\u300113\u756a\u67d3\u8272\u4f53\u9577\u8155 q14 \u9818\u57df\u306e\u90e8\u5206\u6b20\u5931\u306b\u3088\u308a\u8d77\u3053\u308b<strong>\u7a00\u306a\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u5019\u7fa4<\/strong>\u3067\u3059\u3002\u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\u3001\u7db2\u819c\u82bd\u7d30\u80de\u816b\u306e\u9ad8\u30ea\u30b9\u30af\u3001\u7279\u5fb4\u7684\u9854\u8c8c\u3001\u5148\u5929\u5947\u5f62\u3001\u8996\u899a\u30fb\u8074\u899a\u969c\u5bb3\u3001\u6210\u9577\u9045\u5ef6\u306a\u3069 <strong>\u591a\u7cfb\u7d71\u306b\u308f\u305f\u308b\u591a\u69d8\u306a\u75c7\u72b6<\/strong> \u304c\u307f\u3089\u308c\u307e\u3059\u3002\u539f\u56e0\u306f\u4e3b\u306b\u6b20\u5931\u9818\u57df\u306e\u907a\u4f1d\u5b50\u6b20\u640d\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3067\u3042\u308a\u3001\u6cbb\u7642\u306f\u6839\u672c\u6cbb\u7642\u304c\u306a\u3044\u305f\u3081 <strong>\u652f\u6301\u7642\u6cd5\u30fb\u591a\u8077\u7a2e\u3067\u306e\u5305\u62ec\u7684\u652f\u63f4<\/strong> \u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002\u65e9\u671f\u7642\u80b2\u3001\u5b9a\u671f\u7684\u306a\u773c\u79d1\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u304a\u3088\u3073\u5408\u4f75\u75c7\u3078\u306e\u7a4d\u6975\u7684\u306a\u5bfe\u5fdc\u304c\u751f\u6d3b\u306e\u8cea\u5411\u4e0a\u306b\u91cd\u8981\u3067\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/462652?utm_source=chatgpt.com\">NCBI<\/a>)<\/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>MedGen: Chromosome 13q14 deletion syndrome<\/strong> \u2014 \u81e8\u5e8a\u50cf\uff08\u7db2\u819c\u82bd\u7d30\u80de\u816b\u30fb\u77e5\u7684\u969c\u5bb3\u30fb\u9854\u8c8c\u7570\u5e38\u306a\u3069\uff09\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/462652?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>Malacards: Chromosome 13q14 deletion syndrome<\/strong> \u2014 \u75c7\u5019\u7fa4\u6982\u8981\u3001\u81e8\u5e8a\u6240\u898b\u3002(<a href=\"https:\/\/www.malacards.org\/card\/chromosome_13q14_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n\n\n\n<li><strong>13q14 \u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30df\u30cd\u30eb\u30d0\u30af\u30ea\u30cb\u30c3\u30af\uff09<\/strong> \u2014 RB1\u907a\u4f1d\u5b50\u95a2\u9023\u30ea\u30b9\u30af\u3001\u7db2\u819c\u82bd\u7d30\u80de\u816b\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3002(<a href=\"https:\/\/minerva-clinic.or.jp\/chromosome-2\/chr13\/13q14\/?utm_source=chatgpt.com\">\u6771\u4eac\u30fb\u30df\u30cd\u30eb\u30d0\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/li>\n\n\n\n<li><strong>\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\uff08GARD\uff09: Monosomy 13q14 syndome overview.<\/strong>(<a href=\"https:\/\/rarediseases.org\/mondo-disease\/chromosome-13q14-deletion-syndrome\/?utm_source=chatgpt.com\">National Organization for Rare Disorders<\/a>)<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n","protected":false},"featured_media":0,"template":"","class_list":["post-16604","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\/16604","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\/16604\/revisions"}],"predecessor-version":[{"id":16606,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16604\/revisions\/16606"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16604"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}