{"id":16620,"date":"2026-01-19T06:42:35","date_gmt":"2026-01-19T06:42:35","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16620"},"modified":"2026-01-20T02:38:32","modified_gmt":"2026-01-20T02:38:32","slug":"14q12-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/14q12-microdeletion-syndrome\/","title":{"rendered":"14q12 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>Del(14)(q12)<\/strong>\uff1a14\u756a\u67d3\u8272\u4f53\u9577\u8155 q12 \u9818\u57df\u306e\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li><strong>Monosomy 14q12<\/strong>\uff1a14q12 \u90e8\u5206\u5358\u4e00\u4f53\u75c7<\/li>\n\n\n\n<li><strong>FOXG1 syndrome due to 14q12 microdeletion<\/strong>\uff1a14q12 \u6b20\u5931\u306b\u3088\u3063\u3066 FOXG1 \u306e\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3057\u305f\u75c7\u4f8b\u3068\u3057\u3066\u6271\u308f\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u8868\u73fe\u578b\u306e\u540d\u79f0\uff08FOXG1 \u30b7\u30f3\u30c9\u30ed\u30fc\u30e0\uff09 (<a href=\"https:\/\/www.malacards.org\/card\/foxg1_syndrome_due_to_14q12_microdeletion?utm_source=chatgpt.com\">malacards.org<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>14q12 microdeletion syndrome \u306f\u3001\u6b20\u5931\u3055\u308c\u308b\u9818\u57df\u306e\u5927\u304d\u3055\u3084\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\uff08\u7279\u306b <strong>FOXG1<\/strong>\uff09\u306b\u3088\u3063\u3066\u3001\u4ed6\u306e\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u72b6\u3068\u91cd\u8907\u3059\u308b\u8868\u73fe\u578b\u3082\u542b\u307e\u308c\u308b\u305f\u3081\u3001\u4e0a\u8a18\u306e\u95a2\u9023\u75be\u60a3\u540d\u3084\u8868\u73fe\u578b\u540d\u304c\u6587\u732e\u4e2d\u306b\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.malacards.org\/card\/foxg1_syndrome_due_to_14q12_microdeletion?utm_source=chatgpt.com\">malacards.org<\/a>)<\/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\u7b2c14\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff09\u306e q12 \u9818\u57df\u306b\u304a\u3051\u308b\u5fae\u5c0f\u6b20\u5931\uff08microdeletion\uff09<\/strong> \u304c\u672c\u75be\u60a3\u306e\u539f\u56e0\u3067\u3059\u3002<br>\u6b20\u5931\u306f\u901a\u5e38 <strong>\u6bd4\u8f03\u7684\u5c0f\u3055\u306a\u9818\u57df\uff08\u6570\u767e\u30ad\u30ed\u30d9\u30fc\u30b9\u301c\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\u306b\u308f\u305f\u308b\u3053\u3068\u304c\u3042\u308b\uff09<\/strong> \u3067\u3001\u901a\u5e38\u306e\u67d3\u8272\u4f53\u6a19\u6e96\u89e3\u6790\u3067\u306f\u691c\u51fa\u304c\u56f0\u96e3\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u9ad8\u89e3\u50cf\u5ea6\u306e <strong>\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u89e3\u6790\uff08CMA\uff09<\/strong> \u7b49\u3067\u540c\u5b9a\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>14q12 \u9818\u57df\u306b\u306f <strong>FOXG1\uff08FOX G1 \u30d2\u30c8\u907a\u4f1d\u5b50\uff09<\/strong> \u3092\u542b\u3080\u767a\u9054\u95a2\u9023\u907a\u4f1d\u5b50\u304c\u5b58\u5728\u3057\u3001\u305d\u306e\u6b20\u5931\u304c\u81e8\u5e8a\u75c7\u72b6\u306e\u4e2d\u6838\u3092\u62c5\u3046\u3053\u3068\u304c\u8907\u6570\u306e\u75c7\u4f8b\u5831\u544a\u3067\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/globalgenes.org\/subtype\/foxg1-syndrome-due-to-14q12-microdeletion\/?utm_source=chatgpt.com\">Global Genes<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p>14q12 microdeletion syndrome \u306f <strong>\u6975\u3081\u3066\u7a00\u306a\u5148\u5929\u6027\u67d3\u8272\u4f53\u7570\u5e38\u75be\u60a3<\/strong> \u3067\u3042\u308a\u3001\u6b63\u78ba\u306a\u51fa\u751f\u983b\u5ea6\u306e\u5831\u544a\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3084\u75c7\u4f8b\u5831\u544a\u306b\u57fa\u3065\u304f\u5206\u985e\u3067\u306f <strong>\u4eba\u53e3100\u4e07\u4eba\u3042\u305f\u308a1\u4f8b\u672a\u6e80<\/strong> \u306e\u7a00\u5c11\u75be\u60a3\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/es.wikipedia.org\/wiki\/Sindrome_de_microdelecion_14q12?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a>)<\/li>\n\n\n\n<li>\u5b9f\u969b\u306b 14q12 \u7279\u7570\u7684\u306a\u6b20\u5931\u4f8b\u306f <strong>\u4e16\u754c\u7684\u306b\u3082\u6570\u4f8b\u301c\u6570\u5341\u4f8b\u3057\u304b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u305b\u3093<\/strong>\u3002 (<a href=\"https:\/\/es.wikipedia.org\/wiki\/Sindrome_de_microdelecion_14q12?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a>)<\/li>\n\n\n\n<li>\u591a\u304f\u306e\u5834\u5408\u3001\u6b20\u5931\u306f <strong>de novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong> \u3068\u3057\u3066\u767a\u751f\u3057\u3001\u5bb6\u65cf\u5185\u306e\u907a\u4f1d\u4f8b\u306f\u975e\u5e38\u306b\u307e\u308c\u3067\u3059\u304c\u3001\u307e\u308c\u306b <strong>\u751f\u6b96\u7d30\u80de\u30e2\u30b6\u30a4\u30af\u3084\u5bb6\u65cf\u5185\u4f1d\u9054<\/strong> \u306e\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/rarechromo.org\/media\/information\/Chromosome%2014\/14q12%20deletions%20FTNW.pdf?utm_source=chatgpt.com\">Unique<\/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>14q12 microdeletion syndrome \u306e\u81e8\u5e8a\u50cf\u306f\u6b20\u5931\u306b\u3088\u3063\u3066\u5f71\u97ff\u3092\u53d7\u3051\u308b\u907a\u4f1d\u5b50\u3084\u6b20\u5931\u7bc4\u56f2\u306e\u5927\u304d\u3055\u306b\u3088\u308a\u591a\u69d8\u3067\u3059\u304c\u3001\u4e3b\u306b <strong>\u795e\u7d4c\u767a\u9054\u7cfb\u30fb\u8eab\u4f53\u767a\u80b2\u30fb\u884c\u52d5\u6a5f\u80fd\u30fb\u795e\u7d4c\u6a5f\u80fd<\/strong> \u306b\u95a2\u9023\u3059\u308b\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u8907\u6570\u306e\u75c7\u4f8b\u5831\u544a\u3068\u6587\u732e\u30c7\u30fc\u30bf\u304b\u3089\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u4e3b\u8981\u306a\u75c7\u72b6\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\uff1a<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u9045\u5ef6\u30fb\u77e5\u7684\u969c\u5bb3<\/strong><\/p>\n\n\n\n<p>14q12 \u6b20\u5931\u3067\u306f <strong>\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\uff08severe intellectual deficit\uff09<\/strong> \u304c\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u65b0\u751f\u5150\u671f\u306f\u4e00\u898b\u6b63\u5e38\u306b\u767a\u9054\u3057\u3066\u3044\u308b\u5834\u5408\u3067\u3082\u3001<strong>\u751f\u5f8c\u6570\u30f6\u6708\uff083\uff5e6\u30f6\u6708\u9803\uff09\u306b\u767a\u9054\u306e\u505c\u6ede\u3084\u9000\u884c\u304c\u51fa\u73fe<\/strong>\u3059\u308b\u4f8b\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u7279\u306b FOXG1 \u6b20\u5931\u3092\u542b\u3080\u75c7\u4f8b\u3067\u9855\u8457\u3067\u3059\u3002 (<a href=\"https:\/\/www.malacards.org\/card\/foxg1_syndrome_due_to_14q12_microdeletion?utm_source=chatgpt.com\">malacards.org<\/a>)<\/li>\n\n\n\n<li>\u904b\u52d5\u30fb\u8a00\u8a9e\u30fb\u8a8d\u77e5\u306e\u591a\u65b9\u9762\u3067 <strong>\u5168\u822c\u7684\u306a\u767a\u9054\u9045\u5ef6<\/strong> \u304c\u898b\u3089\u308c\u3001\u65e5\u5e38\u751f\u6d3b\u30ec\u30d9\u30eb\u306e\u6a5f\u80fd\u7372\u5f97\u306b\u652f\u63f4\u304c\u5fc5\u8981\u3067\u3059\u3002 (<a href=\"https:\/\/rarediseases.org\/mondo-disease\/14q12-microdeletion-syndrome\/?utm_source=chatgpt.com\">National Organization for Rare Disorders<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5c0f\u982d\u75c7\u30fb\u8eab\u4f53\u767a\u80b2\u306e\u9045\u308c<\/strong><\/p>\n\n\n\n<p>\u591a\u304f\u306e\u5831\u544a\u4f8b\u3067\u3001<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u51fa\u751f\u5f8c\u306e\u5c0f\u982d\u75c7\uff08postnatal microcephaly\uff09<\/strong><\/li>\n\n\n\n<li>\u8eab\u9577\u30fb\u4f53\u91cd\u306a\u3069\u8eab\u4f53\u767a\u80b2\u306e\u9045\u5ef6<br>\u304c\u89b3\u5bdf\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S2950221724000096?utm_source=chatgpt.com\">ScienceDirect<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u6b20\u5931\u9818\u57df\u5185\u306e\u907a\u4f1d\u5b50\u304c\u8133\u767a\u9054\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u982d\u56f2\u306e\u767a\u80b2\u4e0d\u8db3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S2950221724000096?utm_source=chatgpt.com\">ScienceDirect<\/a>)<\/p>\n\n\n\n<p><strong>3. \u7b4b\u7dca\u5f35\u4f4e\u4e0b\u30fb\u904b\u52d5\u5236\u5fa1\u306e\u8ab2\u984c<\/strong><\/p>\n\n\n\n<p>\u4e73\u5150\u671f\u304b\u3089 <strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08hypotonia\uff09<\/strong> \u304c\u8a8d\u3081\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u3053\u308c\u304c\u904b\u52d5\u6a5f\u80fd\u306e\u9045\u308c\u3084\u59ff\u52e2\u30d0\u30e9\u30f3\u30b9\u306e\u8ab2\u984c\u3068\u95a2\u9023\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/www.nature.com\/articles\/ejhg2012208?utm_source=chatgpt.com\">Nature<\/a>)<br>\u3053\u306e\u3088\u3046\u306a\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306f\u591a\u304f\u306e\u795e\u7d4c\u767a\u9054\u7570\u5e38\u75c7\u5019\u7fa4\u3067\u3082\u307f\u3089\u308c\u307e\u3059\u304c\u300114q12 \u6b20\u5931\u3067\u306f\u983b\u5ea6\u304c\u9ad8\u3044\u6240\u898b\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.nature.com\/articles\/ejhg2012208?utm_source=chatgpt.com\">Nature<\/a>)<\/p>\n\n\n\n<p><strong>4. \u795e\u7d4c\u6a5f\u80fd\u969c\u5bb3\uff08\u3066\u3093\u304b\u3093\u30fb\u7570\u5e38\u904b\u52d5\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\uff08epilepsy\uff09<\/strong> \u3084<strong>\u7570\u5e38\u904b\u52d5\uff08involuntary movements\uff09<\/strong> \u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u3089\u306f\u6b20\u5931\u9818\u57df\u5185\u306e\u8133\u767a\u9054\u95a2\u9023\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u308a\u751f\u3058\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u304a\u308a\u3001\u7279\u306b 14q12 \u6b20\u5931\u304c <strong>\u8133\u6881\u6b20\u5931\uff08agenesis of corpus callosum\uff09<\/strong> \u306a\u3069\u306e\u69cb\u9020\u7570\u5e38\u3068\u95a2\u9023\u3059\u308b\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.nature.com\/articles\/ejhg2012208?utm_source=chatgpt.com\">Nature<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u9854\u8c8c\u7570\u5e38<\/strong><\/p>\n\n\n\n<p>\u8907\u6570\u306e\u5831\u544a\u4f8b\u3067 <strong>\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u7570\u5e38\uff08dysmorphic facial features\uff09<\/strong> \u304c\u89b3\u5bdf\u3055\u308c\u3066\u3044\u307e\u3059\u3002<br>\u3053\u308c\u306b\u306f\u6b21\u306e\u3088\u3046\u306a\u6240\u898b\u304c\u542b\u307e\u308c\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u773c\u3068\u773c\u306e\u9593\u9694\u304c\u5e83\u3044\uff08hypertelorism\uff09<\/li>\n\n\n\n<li>\u5e73\u5766\u306a\u9f3b\u6881\u3068\u77ed\u3044\u9f3b<\/li>\n\n\n\n<li>\u9577\u3044\u4eba\u4e2d\uff08philtrum\uff09<\/li>\n\n\n\n<li>\u4e0a\u5507\u306e\u5f62\u304c\u7279\u5fb4\u7684\uff08prominent Cupid\u2019s bow\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u5927\u304d\u3081\u306e\u8033\uff08large ears\uff09<br>\u3053\u308c\u3089\u306e\u7279\u5fb4\u306f 14q12\u6b20\u5931\u75c7\u4f8b\u306e\u5171\u901a\u3057\u305f\u9854\u8c8c\u3068\u3057\u3066\u8907\u6570\u306e\u30b1\u30fc\u30b9\u3067\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC2597953\/?utm_source=chatgpt.com\">PMC<\/a>)<\/p>\n\n\n\n<p><strong>6. \u884c\u52d5\u30fb\u81ea\u9589\u75c7\u69d8\u7279\u5fb4<\/strong><\/p>\n\n\n\n<p>14q12 \u6b20\u5931\u4f8b\u306e\u4e00\u90e8\u3067\u306f\u3001<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e38\u540c\u7684\u306a\u624b\u306e\u52d5\u304d\uff08stereotyped hand movements\uff09<\/strong><\/li>\n\n\n\n<li>\u793e\u4f1a\u6027\u3084\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u56f0\u96e3<\/li>\n\n\n\n<li>\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08ASD\uff09\u985e\u4f3c\u306e\u884c\u52d5<br>\u3068\u3044\u3063\u305f <strong>\u884c\u52d5\u9762\u306e\u7279\u6027<\/strong> \u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.nature.com\/articles\/ejhg2012208?utm_source=chatgpt.com\">Nature<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>7. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<p>\u75c7\u4f8b\u306b\u3088\u3063\u3066\u306f\u3001<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6442\u98df\u56f0\u96e3<\/li>\n\n\n\n<li>\u773c\u7403\u904b\u52d5\u7570\u5e38<\/li>\n\n\n\n<li>\u9000\u884c\u671f\u306e\u767a\u9054\u505c\u6ede<br>\u306a\u3069\u3001\u767a\u9054\u6a5f\u80fd\u3084\u5168\u8eab\u6a5f\u80fd\u306b\u8ffd\u52a0\u306e\u554f\u984c\u304c\u4f75\u767a\u3059\u308b\u4f8b\u3082\u3042\u308a\u307e\u3059\uff08FOXG1\u95a2\u9023\u4f8b\u306a\u3069\uff09\u3002 (<a href=\"https:\/\/globalgenes.org\/subtype\/foxg1-syndrome-due-to-14q12-microdeletion\/?utm_source=chatgpt.com\">Global Genes<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>14q12 microdeletion syndrome \u306e\u539f\u56e0\u306f\u3001\u67d3\u8272\u4f53 14 \u756a\u306e\u9577\u8155 q12 \u9818\u57df\u306b\u751f\u3058\u308b\u5fae\u5c0f\u6b20\u5931\uff08microdeletion\uff09\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3053\u306e\u6b20\u5931\u306b\u3088\u308a\u3001\u5f53\u8a72\u9818\u57df\u306b\u3042\u308b\u8907\u6570\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u306e <strong>1\u30b3\u30d4\u30fc\u304c\u5931\u308f\u308c\uff08\u30cf\u30d7\u30ed\u4e0d\u5168; haploinsufficiency\uff09<\/strong>\u3001\u907a\u4f1d\u5b50\u7523\u7269\u304c\u4e0d\u8db3\u3059\u308b\u3053\u3068\u3067\u795e\u7d4c\u767a\u9054\u3084\u8eab\u4f53\u767a\u80b2\u304c\u963b\u5bb3\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>FOXG1\uff08forkhead box G1\uff09<\/strong> \u306f 14q12 \u9818\u57df\u3067\u6700\u3082\u3088\u304f\u77e5\u3089\u308c\u3001\u8133\u767a\u9054\u3001\u8a8d\u77e5\u6a5f\u80fd\u3001\u795e\u7d4c\u56de\u8def\u5f62\u6210\u306b\u95a2\u4e0e\u3059\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002\u6b20\u5931\u306b\u3088\u308a FOXG1 \u306e\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3059\u308b\u3068\u3001<strong>\u8a8d\u77e5\u30fb\u904b\u52d5\u30fb\u884c\u52d5\u9762\u306b\u6df1\u523b\u306a\u5f71\u97ff<\/strong>\u304c\u51fa\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.malacards.org\/card\/foxg1_syndrome_due_to_14q12_microdeletion?utm_source=chatgpt.com\">malacards.org<\/a>)<\/li>\n\n\n\n<li>14q12 \u6b20\u5931\u306b\u3088\u308b\u795e\u7d4c\u767a\u9054\u75c7\u72b6\u306f\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f <strong>FOXG1 \u30b7\u30f3\u30c9\u30ed\u30fc\u30e0\uff08Congenital variant of Rett syndrome\uff09<\/strong> \u3068\u985e\u4f3c\u3059\u308b\u81e8\u5e8a\u50cf\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.nature.com\/articles\/ejhg2012208?utm_source=chatgpt.com\">Nature<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u591a\u304f\u306e\u4f8b\u306f <strong>de novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong> \u3068\u3057\u3066\u767a\u75c7\u3057\u307e\u3059\u304c\u3001\u307e\u308c\u306b\u89aa\u304b\u3089\u4f1d\u308f\u308b\u4f8b\u3084\u30e2\u30b6\u30a4\u30af\u72b6\u614b\u304c\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/rarechromo.org\/media\/information\/Chromosome%2014\/14q12%20deletions%20FTNW.pdf?utm_source=chatgpt.com\">Unique<\/a>)<\/p>\n\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f <strong>\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u89e3\u6790\uff08CMA\uff0farray-CGH\uff09<\/strong> \u3084 <strong>\u5168\u30b2\u30ce\u30e0\/\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790<\/strong> \u306a\u3069\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5\uff08\u7ba1\u7406\u30fb\u652f\u63f4\uff09<\/strong><\/h2>\n\n\n\n<p><strong>14q12 microdeletion syndrome \u306b\u5bfe\u3059\u308b\u6839\u672c\u6cbb\u7642\uff08\u6b20\u5931\u9818\u57df\u3092\u4fee\u5fa9\u3059\u308b\u6cbb\u7642\uff09\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u3002<\/strong><strong><br><\/strong>\u6cbb\u7642\u30fb\u7ba1\u7406\u306f\u3001<strong>\u5404\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u652f\u6301\u7642\u6cd5\uff08supportive care\uff09\u3068\u591a\u8077\u7a2e\u9023\u643a<\/strong> \u306b\u3088\u3063\u3066\u9032\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u767a\u9054\u652f\u63f4\u30fb\u7642\u80b2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08Physical therapy\uff09<\/strong>\uff1a\u4f4e\u7b4b\u7dca\u5f35\u30fb\u904b\u52d5\u9045\u5ef6\u3078\u306e\u5bfe\u5fdc<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08Speech therapy\uff09<\/strong>\uff1a\u8a00\u8a9e\u30fb\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u306e\u6539\u5584<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08Occupational therapy\uff09<\/strong>\uff1a\u65e5\u5e38\u751f\u6d3b\u6280\u80fd\u30fb\u611f\u899a\u7d71\u5408\u306e\u652f\u63f4<\/li>\n<\/ul>\n\n\n\n<p>\u65e9\u671f\u304b\u3089\u306e\u4ecb\u5165\u304c\u7dcf\u5408\u7684\u306a\u767a\u9054\u3078\u306e\u6069\u6075\u3092\u9ad8\u3081\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u795e\u7d4c\u30fb\u884c\u52d5\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u884c\u52d5\u7642\u6cd5<\/strong>\uff1a\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u7684\u884c\u52d5\u3001\u6ce8\u610f\u969c\u5bb3\u306a\u3069\u3078\u306e\u5bfe\u5fdc<\/li>\n\n\n\n<li><strong>\u5fc3\u7406\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong>\uff1a\u60c5\u7dd2\u9762\u30fb\u9069\u5fdc\u652f\u63f4<\/li>\n\n\n\n<li>\u6559\u80b2\u652f\u63f4\u8a08\u753b\uff08IEP\uff09\u3092\u542b\u3080 <strong>\u5b66\u6821\u30fb\u751f\u6d3b\u74b0\u5883\u3067\u306e\u7d71\u5408\u652f\u63f4<\/strong><\/li>\n<\/ul>\n\n\n\n<p><strong>\u533b\u7642\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093<\/strong> \u304c\u3042\u308b\u5834\u5408\u306f\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u7ba1\u7406<\/li>\n\n\n\n<li><strong>\u8996\u899a\u30fb\u8074\u899a\u6a5f\u80fd\u8a55\u4fa1<\/strong> \u3068\u88dc\u52a9\u5177\u306e\u6d3b\u7528<\/li>\n\n\n\n<li>\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u6574\u5f62\u5916\u79d1\u30fb\u5185\u79d1\u30fb\u8033\u9f3b\u79d1\u30d5\u30a9\u30ed\u30fc<\/li>\n<\/ul>\n\n\n\n<p><strong>\u5b9a\u671f\u30d5\u30a9\u30ed\u30fc\u30fb\u591a\u8077\u7a2e\u9023\u643a<\/strong><\/p>\n\n\n\n<p>\u767a\u9054\u30fb\u8eab\u4f53\u6210\u9577\u30fb\u884c\u52d5\u30fb\u751f\u6d3b\u6a5f\u80fd\u3092\u5b9a\u671f\u7684\u306b\u8a55\u4fa1\u3057\u3001\u7642\u80b2\u30fb\u533b\u7642\u30c1\u30fc\u30e0\uff08\u5c0f\u5150\u79d1\uff0f\u795e\u7d4c\u79d1\uff0f\u30ea\u30cf\u30d3\u30ea\uff0f\u6559\u80b2\u652f\u63f4\uff09\u306e\u9023\u643a\u30b1\u30a2\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u306e\u6027\u8cea\u30fb\u518d\u767a\u30ea\u30b9\u30af\u30fb\u598a\u5a20\u4e2d\u306e\u691c\u67fb\u30aa\u30d7\u30b7\u30e7\u30f3\uff08CVS, \u7f8a\u6c34\u691c\u67fb\uff09\u306b\u3064\u3044\u3066\u8aac\u660e<\/li>\n\n\n\n<li>\u5bb6\u65cf\u8a08\u753b\u30fb\u5c31\u5b66\u30fb\u751f\u6d3b\u74b0\u5883\u6574\u5099\u306e\u76f8\u8ac7\u652f\u63f4<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p><strong>14q12 microdeletion syndrome<\/strong> \u306f\u300114\u756a\u67d3\u8272\u4f53\u9577\u8155 q12 \u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u6975\u3081\u3066\u7a00\u306a\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u5019\u7fa4\u3067\u3059\u3002\u4e3b\u306a\u7279\u5fb4\u306f <strong>\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u30fb\u767a\u9054\u9045\u5ef6\u30fb\u5c0f\u982d\u75c7\u30fb\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u30fb\u9854\u8c8c\u7570\u5e38\u30fb\u3066\u3093\u304b\u3093\u30fb\u884c\u52d5\u7570\u5e38<\/strong> \u306a\u3069\u3067\u3001\u7279\u306b <strong>FOXG1 \u907a\u4f1d\u5b50\u6b20\u5931\u306b\u95a2\u9023\u3057\u305f\u91cd\u7be4\u306a\u795e\u7d4c\u767a\u9054\u969c\u5bb3<\/strong> \u304c\u75c7\u72b6\u306e\u4e2d\u5fc3\u3067\u3059\u3002\u6cbb\u7642\u306f\u6839\u672c\u7684\u306a\u6b20\u5931\u4fee\u5fa9\u306f\u4e0d\u53ef\u80fd\u306a\u305f\u3081\u3001<strong>\u767a\u9054\u652f\u63f4\u3001\u8a00\u8a9e\u30fb\u904b\u52d5\u7642\u6cd5\u3001\u884c\u52d5\u652f\u63f4\u3001\u3066\u3093\u304b\u3093\u7ba1\u7406\u3001\u5fc3\u7406\u30fb\u6559\u80b2\u652f\u63f4<\/strong> \u3092\u7d71\u5408\u3057\u305f\u5305\u62ec\u7684\u306a\u30b1\u30a2\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\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>PubMed \/ 14q12 microdeletion phenotype\uff08Rett-like clinical course, intellectual deficit\uff09 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/19303466\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/li>\n\n\n\n<li>Global Genes \/ FOXG1 syndrome due to 14q12 microdeletion (<a href=\"https:\/\/globalgenes.org\/subtype\/foxg1-syndrome-due-to-14q12-microdeletion\/?utm_source=chatgpt.com\">Global Genes<\/a>)<\/li>\n\n\n\n<li>Monarch Initiative \/ 14q12 microdeletion syndrome summary (<a href=\"https:\/\/monarchinitiative.org\/MONDO%3A0016833?utm_source=chatgpt.com\">Monarch Initiative<\/a>)<\/li>\n\n\n\n<li>Wikipedia\uff08es\uff09 \u201cS\u00edndrome de microdeleci\u00f3n 14q12\u201d \u2014 \u75c7\u72b6\u30fb\u983b\u5ea6\u6982\u8aac (<a href=\"https:\/\/es.wikipedia.org\/wiki\/Sindrome_de_microdelecion_14q12?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a>)<\/li>\n\n\n\n<li>Ellaway CJ et al. \/ microdeletions of 14q12 and neurodevelopmental phenotype \uff08PRKD1 adjacent &amp; FOXG1 regulation\uff09 (<a href=\"https:\/\/www.nature.com\/articles\/ejhg2012208?utm_source=chatgpt.com\">Nature<\/a>)<\/li>\n<\/ol>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem 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