{"id":16592,"date":"2026-01-19T05:56:01","date_gmt":"2026-01-19T05:56:01","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16592"},"modified":"2026-01-19T05:56:52","modified_gmt":"2026-01-19T05:56:52","slug":"12q14-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/12q14-microdeletion-syndrome\/","title":{"rendered":"12q14 microdeletion 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>12q14\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4<\/strong>\uff0812q14 microdeletion syndrome\uff09<\/li>\n\n\n\n<li><strong>Del(12)(q14)<\/strong>\uff0812\u756a\u67d3\u8272\u4f53\u9577\u8155q14\u6b20\u5931\uff09<\/li>\n\n\n\n<li><strong>Osteopoikilosis-Short Stature-Intellectual Disability Syndrome<\/strong>\uff08\u9aa8\u5bc6\u5ea6\u7570\u5e38\u30fb\u77ed\u8eab\u30fb\u77e5\u7684\u969c\u5bb3\u75c7\u5019\u7fa4\uff09 \u2014 \u4e00\u90e8\u306e\u60a3\u8005\u3067\u307f\u3089\u308c\u308b\u9aa8\u95a2\u9023\u5408\u4f75\u75c7\u306b\u7531\u6765\u3059\u308b\u540d\u3002(<a href=\"https:\/\/www.malacards.org\/card\/12q14_microdeletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306f\u67d3\u8272\u4f53\u306e\u9818\u57df <strong>12q14<\/strong> \u306b1\u30b3\u30d4\u30fc\u306e\u6b20\u5931\uff08\u5fae\u5c0f\u6b20\u5931\uff09\u304c\u8a8d\u3081\u3089\u308c\u308b\u3053\u3068\u3067\u767a\u751f\u3059\u308b\u307e\u308c\u306a\u5148\u5929\u6027\u75be\u60a3\u3067\u3001\u6b20\u5931\u3055\u308c\u308b\u7bc4\u56f2\u3084\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u5e45\u304c\u751f\u3058\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/13390\/12q14-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<br><\/p>\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>\u30d2\u30c8\u7b2c12\u756a\u67d3\u8272\u4f53 \u9577\u8155 q14 \u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931<\/strong> \u304c\u75c5\u614b\u306e\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u3055\u308c\u308b\u9818\u57df\u306e <strong>\u5927\u304d\u3055\u306f\u75c7\u4f8b\u306b\u3088\u3063\u3066\u7570\u306a\u308a<\/strong>\u3001\u901a\u5e38\u6570\u767e\u30ad\u30ed\u30d9\u30fc\u30b9\u301c\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\u306e\u9593\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u9818\u57df\u306b\u306f <strong>HMGA2\u3001LEMD3\u3001GRIP1\u3001IRAK3\u3001DCTN2\u3001KIF5A<\/strong> \u306a\u3069\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u6b20\u5931\u304c\u75c5\u614b\u5f62\u6210\u306b\u5bc4\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.rarechromo.org\/media\/information\/Chromosome%2012\/12q14%20microdeletions%20FTNP.pdf?utm_source=chatgpt.com\">Unique<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u7279\u306b <strong>HMGA2<\/strong>\uff08High Mobility Group AT-hook 2\uff09\u907a\u4f1d\u5b50\u306f <strong>\u6210\u9577\uff08\u8eab\u9577\uff09\u8abf\u7bc0<\/strong> \u306b\u91cd\u8981\u3067\u3001\u6b20\u5931\u3055\u308c\u308b\u3068\u8457\u3057\u3044\u6210\u9577\u5236\u9650\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.rarechromo.org\/media\/information\/Chromosome%2012\/12q14%20microdeletions%20FTNP.pdf?utm_source=chatgpt.com\">Unique<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p>12q14 microdeletion syndrome \u306f <strong>\u975e\u5e38\u306b\u7a00\u306a\u5fae\u5c0f\u6b20\u5931\u75be\u60a3<\/strong> \u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e16\u754c\u898f\u6a21\u3067\u306e\u75ab\u5b66\u30c7\u30fc\u30bf\u306f\u5c11\u306a\u3044\u3082\u306e\u306e\u3001\u63a8\u5b9a\u3067\u306f <strong>100\u301c1000\u540d\u7a0b\u5ea6\u306e\u65e2\u5831\u4f8b\u304c\u5b58\u5728\u3059\u308b<\/strong> \u3068\u3055\u308c\u307e\u3059\uff08\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u8abf\u67fb\u30d9\u30fc\u30b9\uff09\u3002(<a href=\"https:\/\/mhlw-grants.niph.go.jp\/system\/files\/download_pdf\/2023\/202310019A.pdf?utm_source=chatgpt.com\">\u539a\u751f\u52b4\u50cd\u79d1\u5b66\u7814\u7a76\u6210\u679c\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9<\/a>)<\/li>\n\n\n\n<li>\u5168\u30b2\u30ce\u30e0\u304b\u3089\u898b\u3066\u3082 <strong>100\u4e07\u4eba\u306b1\u4eba\u672a\u6e80\u306e\u6975\u3081\u3066\u4f4e\u3044\u983b\u5ea6<\/strong> \u3068\u63a8\u6e2c\u3055\u308c\u3001\u5e0c\u5c11\u75be\u60a3\u306e\u4e00\u3064\u3067\u3059\u3002(<a href=\"https:\/\/www.malacards.org\/card\/12q14_microdeletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n\n\n\n<li>\u75c7\u4f8b\u306e\u591a\u304f\u306f <strong>de novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong> \u3068\u3055\u308c\u3001\u5bb6\u65cf\u5185\u3067\u306e\u907a\u4f1d\u4f8b\u306f\u307e\u308c\u3067\u3059\u3002\u6b20\u5931\u304c\u907a\u4f1d\u6027\u306e\u5834\u5408\u3001<strong>\u512a\u6027\uff08dominant\uff09\u30d1\u30bf\u30fc\u30f3<\/strong> \u3067\u73fe\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/13390\/12q14-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/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>12q14\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u6b20\u5931\u3055\u308c\u308b\u67d3\u8272\u4f53\u7bc4\u56f2\u3068\u305d\u3053\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u306b\u3088\u308a\u591a\u69d8\u306a\u75c7\u72b6\u3092\u5448\u3057\u307e\u3059\u304c\u3001\u4e3b\u306b\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u81e8\u5e8a\u50cf\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/13390\/12q14-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/p>\n\n\n\n<p><strong>\u25c6 1. \u6210\u9577\u30fb\u6804\u990a\u30fb\u767a\u80b2<\/strong><\/p>\n\n\n\n<p><strong>\u4f4e\u51fa\u751f\u4f53\u91cd\u3001\u6210\u9577\u9045\u5ef6\u3001\u77ed\u8eab\uff08short stature\uff09\u3001failure to thrive\uff08\u6804\u990a\u4e0d\u826f\u30fb\u767a\u80b2\u4e0d\u826f\uff09<\/strong> \u306f\u672c\u75c7\u5019\u7fa4\u3092\u7279\u5fb4\u3065\u3051\u308b\u75c7\u72b6\u3067\u3001\u51fa\u751f\u524d\u5f8c\u306e\u767a\u80b2\u5236\u9650\u304c\u307f\u3089\u308c\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/13390\/12q14-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>HMGA2 \u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong> \u304c\u8eab\u9577\u767a\u80b2\u306b\u5927\u304d\u304f\u5f71\u97ff\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u304a\u308a\u3001\u6b20\u5931\u4f8b\u3067\u306f\u51fa\u751f\u524d\u5f8c\u304b\u3089\u6210\u9577\u66f2\u7dda\u304c\u5e73\u5766\u5316\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002(<a href=\"https:\/\/www.rarechromo.org\/media\/information\/Chromosome%2012\/12q14%20microdeletions%20FTNP.pdf?utm_source=chatgpt.com\">Unique<\/a>)<\/li>\n\n\n\n<li>\u5834\u5408\u306b\u3088\u3063\u3066\u306f <strong>\u6442\u98df\u56f0\u96e3\uff08feeding difficulties\uff09<\/strong> \u3092\u4f34\u3044\u3001\u54fa\u4e73\u30fb\u96e2\u4e73\u30fb\u6804\u990a\u6442\u53d6\u306b\u652f\u63f4\u304c\u5fc5\u8981\u306a\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/13390\/12q14-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u25c6 2. \u77e5\u7684\u6a5f\u80fd\u3068\u767a\u9054<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\uff08intellectual disability\uff09<\/strong> \u304c\u5831\u544a\u4f8b\u306e\u591a\u304f\u306b\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u5ef6\uff08global developmental delay\uff09<\/strong> \u2015 \u904b\u52d5\u30fb\u8a00\u8a9e\u306a\u3069\u8907\u6570\u9818\u57df\u3067\u306e\u9045\u308c\u304c\u307f\u3089\u308c\u307e\u3059\u3002(<a href=\"https:\/\/www.malacards.org\/card\/12q14_microdeletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u5b66\u7fd2\u56f0\u96e3\u3084\u884c\u52d5\u9762\u306e\u5f71\u97ff<\/strong> \u304c\u6563\u767a\u7684\u306b\u5831\u544a\u3055\u308c\u3001\u7279\u306b GRIP1 \u907a\u4f1d\u5b50\u6b20\u5931\u304c\u3042\u308b\u5834\u5408\u306f<strong>\u795e\u7d4c\u30b7\u30ca\u30d7\u30b9\u5f62\u6210\u30fb\u8a8d\u77e5\u6a5f\u80fd\u3078\u306e\u5f71\u97ff<\/strong>\u304c\u7591\u308f\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.rarechromo.org\/media\/information\/Chromosome%2012\/12q14%20microdeletions%20FTNP.pdf?utm_source=chatgpt.com\">Unique<\/a>)<\/p>\n\n\n\n<p><strong>\u25c6 3. \u9aa8\u30fb\u76ae\u819a\u306e\u7279\u5fb4<\/strong><\/p>\n\n\n\n<p>\u3044\u304f\u3064\u304b\u306e\u75c7\u4f8b\u5831\u544a\u3067\u306f <strong>\u9aa8\u5bc6\u5ea6\u306b\u7570\u5e38\uff08osteopoikilosis\uff09<\/strong> \u3092\u8a8d\u3081\u308b\u4f8b\u304c\u3042\u308a\u3001\u3053\u308c\u306f <strong>LEMD3 \u907a\u4f1d\u5b50<\/strong> \u6b20\u5931\u3068\u95a2\u9023\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.malacards.org\/card\/12q14_microdeletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Osteopoikilosis \u306f\u9aa8X\u7dda\u4e0a\u306e<strong>\u70b9\u72b6\u306e\u9aa8\u786c\u5316\u75c5\u5909<\/strong> \u306a\u3069\u306e\u6240\u898b\u3068\u3057\u3066\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u81e8\u5e8a\u7684\u306b\u306f\u76ee\u7acb\u305f\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u300112q14\u6b20\u5931\u3068\u4e00\u81f4\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/www.malacards.org\/card\/12q14_microdeletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u25c6 4. \u9854\u8c8c\u30fb\u8eab\u4f53\u5f62\u614b<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u3067\u306f\u4e00\u822c\u7684\u306b<strong>\u975e\u7279\u7570\u7684\u306a\u9854\u8c8c\u7570\u5e38\uff08facial dysmorphism\uff09<\/strong> \u304c\u307f\u3089\u308c\u307e\u3059\u3002<br>\u5177\u4f53\u7684\u306b\u306f\u3001\u8efd\u5ea6\u306e\u9854\u7acb\u3061\u306e\u7279\u5fb4\u3001\u982d\u56f2\u3084\u9854\u5f62\u306e\u5dee\u7570\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001<strong>12q14\u6b20\u5931\u306b\u7279\u7570\u7684\u306a\u9854\u8c8c\u30d1\u30bf\u30fc\u30f3\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093<\/strong>\u3002(<a href=\"https:\/\/www.malacards.org\/card\/12q14_microdeletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/p>\n\n\n\n<p><strong>\u25c6 5. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<p>\u5831\u544a\u4f8b\u306e\u4e00\u90e8\u306b\u306f\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u5408\u4f75\u75c7\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5185\u81d3\u30fb\u5fc3\u81d3\u5947\u5f62<\/strong>\uff08\u6b20\u5931\u9818\u57df\u304c\u62e1\u5927\u3059\u308b\u5834\u5408\u306b\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308b\uff09(<a href=\"https:\/\/www.rarechromo.org\/media\/information\/Chromosome%2012\/12q14%20microdeletions%20FTNP.pdf?utm_source=chatgpt.com\">Unique<\/a>)<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\uff08epilepsy\uff09\u3084\u767a\u4f5c\u50be\u5411<\/strong> \u304c\u542b\u307e\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u3068\u3059\u308b\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u78ba\u7acb\u7684\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002(<a href=\"https:\/\/square.umin.ac.jp\/CMA\/11_diagnosis.pdf?utm_source=chatgpt.com\">UMIN SQUARE<\/a>)<br>\u305f\u3060\u3057\u3001\u3053\u308c\u3089\u306f\u6b20\u5931\u306e\u5927\u304d\u3055\u3068\u5f71\u97ff\u3059\u308b\u907a\u4f1d\u5b50\u306e\u5dee\u306b\u3088\u3063\u3066\u73fe\u308c\u308b\u4f8b\u304c\u307e\u3061\u307e\u3061\u3067\u3001\u5fc5\u305a\u3057\u3082\u5168\u4f8b\u306b\u5171\u901a\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>12q14 microdeletion syndrome \u306e\u539f\u56e0\u306f <strong>\u67d3\u8272\u4f53 12 \u756a\u9577\u8155 q14 \u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\uff08chromosomal microdeletion\uff09<\/strong> \u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u306f <strong>\u9023\u7d9a\u3057\u305f\u8907\u6570\u306e\u907a\u4f1d\u5b50\u9818\u57df\u3092\u542b\u3080\u3053\u3068\u304c\u3042\u308a\u30011\u30b3\u30d4\u30fc\u6b20\u5931\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u3063\u3066\u6b63\u5e38\u306a\u907a\u4f1d\u5b50\u767a\u73fe\u304c\u963b\u5bb3<\/strong> \u3055\u308c\u308b\u3053\u3068\u304c\u767a\u75c7\u6a5f\u5e8f\u3067\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/13390\/12q14-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li>\u6b20\u5931\u9818\u57df\u306b\u306f <strong>\u6210\u9577\u30fb\u9aa8\u767a\u9054\u95a2\u9023\u306e HMGA2\u3001\u9aa8\u5bc6\u5ea6\u95a2\u9023\u306e LEMD3\u3001\u8a8d\u77e5\u6a5f\u80fd\u95a2\u9023\u306e GRIP1<\/strong> \u306a\u3069\u304c\u542b\u307e\u308c\u308b\u305f\u3081\u3001\u3053\u308c\u3089\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bc4\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.rarechromo.org\/media\/information\/Chromosome%2012\/12q14%20microdeletions%20FTNP.pdf?utm_source=chatgpt.com\">Unique<\/a>)<\/li>\n\n\n\n<li>12q14 microdeletion \u306f\u901a\u5e38 <strong>de novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong> \u3068\u3057\u3066\u751f\u3058\u307e\u3059\u304c\u3001\u307e\u308c\u306b\u5bb6\u65cf\u6027\u907a\u4f1d\u306e\u5831\u544a\u3082\u3042\u308a\u5f97\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/13390\/12q14-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u67d3\u8272\u4f53\u6b20\u5931\u306f <strong>\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u89e3\u6790\uff08CMA\uff09\u3084\u6bd4\u8f03\u30b2\u30ce\u30e0\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff08CGH\uff09\u3001\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09<\/strong> \u306a\u3069\u306e\u9ad8\u89e3\u50cf\u5ea6\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u3063\u3066\u78ba\u5b9a\u8a3a\u65ad\u3055\u308c\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/13390\/12q14-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/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>12q14 microdeletion syndrome \u306b\u5bfe\u3059\u308b <strong>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093<\/strong>\u3002<br>\u6cbb\u7642\u3068\u7ba1\u7406\u306f\u4e3b\u306b <strong>\u500b\u3005\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u652f\u6301\u7642\u6cd5\u30fb\u591a\u8077\u7a2e\u306b\u3088\u308b\u5305\u62ec\u7684\u652f\u63f4<\/strong> \u304c\u4e2d\u5fc3\u3067\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/13390\/12q14-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/p>\n\n\n\n<p><strong>\u25c6 1. \u6210\u9577\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6804\u990a\u7ba1\u7406\u3068\u5185\u5206\u6ccc\u8a55\u4fa1<\/strong><strong><br><\/strong>\u767a\u80b2\u4e0d\u5168\u3084\u77ed\u8eab\u306b\u5bfe\u3057\u3066 <strong>\u6804\u990a\u8a55\u4fa1\u3001\u30db\u30eb\u30e2\u30f3\u8a55\u4fa1\uff08\u4f8b\uff1a\u6210\u9577\u30db\u30eb\u30e2\u30f3\uff09<\/strong> \u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6700\u8fd1\u306e\u75c7\u4f8b\u5831\u544a\u3067\u306f\u3001<strong>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u7642\u6cd5\uff08rhGH\uff09<\/strong> \u304c\u6210\u9577\u4fc3\u9032\u306b\u6709\u76ca\u3067\u3042\u3063\u305f\u30b1\u30fc\u30b9\u304c\u5831\u544a\u3055\u308c\u3001\u6210\u9577\u652f\u63f4\u306e\u4e00\u9078\u629e\u3068\u3057\u3066\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/930809?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u25c6 2. \u767a\u9054\u30fb\u6559\u80b2\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2\uff08Early intervention\uff09<\/strong><strong><br><\/strong>\u767a\u9054\u9045\u5ef6\u306b\u5bfe\u3057\u3066\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u7642\u6cd5\u306a\u3069\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u652f\u63f4\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u7279\u6b8a\u6559\u80b2\u30fb\u5b66\u7fd2\u652f\u63f4<\/strong><strong><br><\/strong>\u77e5\u7684\u969c\u5bb3\u3084\u5b66\u7fd2\u56f0\u96e3\u3092\u88dc\u3046\u305f\u3081\u306e\u500b\u5225\u6559\u80b2\u8a08\u753b\u304c\u6709\u52b9\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u25c6 3. \u884c\u52d5\u30fb\u5fc3\u7406\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u884c\u52d5\u7642\u6cd5\u30fb\u5fc3\u7406\u7684\u652f\u63f4<\/strong><strong><br><\/strong>\u884c\u52d5\u9762\u306e\u554f\u984c\u3001\u4e0d\u5b89\u30fb\u60c5\u7dd2\u9762\u306e\u8ab2\u984c\u306b\u5bfe\u5fdc\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5fc5\u8981\u306b\u5fdc\u3058\u3066 <strong>\u7cbe\u795e\u79d1\u30fb\u5fc3\u7406\u7642\u6cd5<\/strong> \u3092\u5c0e\u5165\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u25c6 4. \u533b\u7642\u7684\u5bfe\u5fdc<\/strong><\/p>\n\n\n\n<p><strong>\u5408\u4f75\u75c7\u306e\u8a55\u4fa1\u3068\u6cbb\u7642<\/strong><strong><br><\/strong>\u5185\u81d3\u5947\u5f62\u3084\u8ffd\u52a0\u306e\u767a\u9054\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5404\u5c02\u9580\u79d1\uff08\u5faa\u74b0\u5668\u3001\u6574\u5f62\u5916\u79d1\u3001\u795e\u7d4c\u5185\u79d1\uff09\u7b49\u3068\u9023\u643a\u3057\u6cbb\u7642\u30fb\u30d5\u30a9\u30ed\u30fc\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u25c6 5. \u5b9a\u671f\u30d5\u30a9\u30ed\u30fc<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u80b2\u3001\u8a8d\u77e5\u767a\u9054\u3001\u8eab\u4f53\u6a5f\u80fd\u306e\u7d4c\u904e\u89b3\u5bdf\u3092\u7d99\u7d9a\u7684\u306b\u884c\u3044\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u652f\u63f4\u5185\u5bb9\u3092\u8abf\u6574\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u611f\u899a\u6a5f\u80fd\uff08\u8996\u899a\u30fb\u8074\u899a\uff09\u306e\u8a55\u4fa1\u3092\u542b\u3081\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u25c6 6. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u75c5\u56e0\u306e\u8aac\u660e\u3001(\u518d\u767a\u30ea\u30b9\u30af)\u3084\u5bb6\u65cf\u8a08\u753b\u3078\u306e\u652f\u63f4\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>de novo \u306e\u5834\u5408\u3067\u3082\u3001\u5bb6\u65cf\u306e\u67d3\u8272\u4f53\u69cb\u9020\u8a55\u4fa1\u3092\u542b\u3081\u305f\u907a\u4f1d\u5b66\u7684\u76f8\u8ac7\u304c\u91cd\u8981\u3067\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/13390\/12q14-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p><strong>12q14 microdeletion syndrome<\/strong> \u306f\u300112\u756a\u67d3\u8272\u4f53 <strong>q14 \u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931<\/strong> \u306b\u3088\u3063\u3066\u751f\u3058\u308b\u7a00\u306a\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002\u4ee3\u8868\u7684\u306a\u7279\u5fb4\u306b\u306f <strong>\u51fa\u751f\u524d\u5f8c\u306e\u6210\u9577\u9045\u5ef6\u3001\u77ed\u8eab\u3001\u767a\u9054\u9045\u5ef6\u3001\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3001\u5931\u6557\u6027\u767a\u80b2\uff08failure to thrive\uff09<\/strong> \u304c\u542b\u307e\u308c\u3001\u6b20\u5931\u9818\u57df\u306b\u542b\u307e\u308c\u308b <strong>HMGA2\u3001LEMD3\u3001GRIP1<\/strong> \u306a\u3069\u306e\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u305d\u306e\u539f\u56e0\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u75c7\u72b6\u306f\u6b20\u5931\u306e\u5927\u304d\u3055\u3068\u95a2\u4e0e\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u6210\u9577\u652f\u63f4\u3001\u7642\u80b2\u3001\u6559\u80b2\u30fb\u884c\u52d5\u652f\u63f4\u3001\u5408\u4f75\u75c7\u7ba1\u7406\u3092\u542b\u3081\u305f <strong>\u591a\u8077\u7a2e\u306b\u3088\u308b\u5305\u62ec\u7684\u6cbb\u7642<\/strong> \u304c\u5fc5\u8981\u3067\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3082\u91cd\u8981\u306a\u652f\u63f4\u306e\u4e00\u90e8\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li>NIH GARD: <strong>12q14 microdeletion syndrome<\/strong> \u2014 general disease summary including growth delay, short stature, feeding difficulties.(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/13390\/12q14-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li>NCBI MedGen: <strong>12q14 microdeletion syndrome<\/strong> \u2014 phenotype features including intellectual deficit, failure to thrive, osteopoikilosis.(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/930809?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li>Rare Chromosome Information Group: <strong>12q14 microdeletions PDF<\/strong> \u2014 candidate genes and phenotypic associations.(<a href=\"https:\/\/www.rarechromo.org\/media\/information\/Chromosome%2012\/12q14%20microdeletions%20FTNP.pdf?utm_source=chatgpt.com\">Unique<\/a>)<\/li>\n\n\n\n<li>Scientific literature (Heldt F et al., <em>Eur J Med Genet<\/em> 2018; case reviews and phenotype descriptions).(<a href=\"https:\/\/www.nature.com\/articles\/ejhg2010215?utm_source=chatgpt.com\">Nature<\/a>)<\/li>\n\n\n\n<li>Malacards: <strong>12q14 microdeletion syndrome profile<\/strong> summarizing key traits and associated genes.(<a href=\"https:\/\/www.malacards.org\/card\/12q14_microdeletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n<\/ol>\n\n\n\n<p><\/p>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem 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