{"id":16616,"date":"2026-01-19T06:32:31","date_gmt":"2026-01-19T06:32:31","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16616"},"modified":"2026-01-19T06:32:31","modified_gmt":"2026-01-19T06:32:31","slug":"14q11-2-microduplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/14q11-2-microduplication-syndrome\/","title":{"rendered":"14q11.2 microduplication 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>dup(14)(q11.2)<\/strong>\uff0814\u756a\u67d3\u8272\u4f53\u9577\u8155 q11.2 \u306e\u91cd\u8907\uff09 (<a href=\"https:\/\/rarediseases.org\/mondo-disease\/14q11-2-microduplication-syndrome\/?utm_source=chatgpt.com\">National Organization for Rare Disorders<\/a>)<\/li>\n\n\n\n<li><strong>Trisomy 14q11.2<\/strong>\uff0814q11.2 \u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc\uff09 (<a href=\"https:\/\/rarediseases.org\/mondo-disease\/14q11-2-microduplication-syndrome\/?utm_source=chatgpt.com\">National Organization for Rare Disorders<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u203b14q11.2 microdeletion syndrome\uff08\u6b20\u5931\uff09\u3068\u306f\u9006\u306e\u30b3\u30d4\u30fc\u6570\u7570\u5e38\u3067\u3001<strong>\u540c\u3058\u67d3\u8272\u4f53\u9818\u57df\u306e\u91cd\u8907<\/strong>\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u75be\u60a3\u7fa4\u3068\u3057\u3066\u533a\u5225\u3055\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/261229?utm_source=chatgpt.com\">Orpha.net<\/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 q11.2 \u9818\u57df\u306b\u304a\u3051\u308b\u5fae\u5c0f\u91cd\u8907\uff08microduplication\uff09<\/strong> \u304c\u539f\u56e0\u3067\u3059\u3002<br>\u3053\u308c\u306f\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u6027\u8cea\u3092\u6301\u3061\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u91cd\u8907\u306f <strong>\u5c0f\u3055\u306a\u30b3\u30d4\u30fc\u6570\u5897\u52a0<\/strong> \u3067\u3042\u308a\u3001\u5f53\u8a72\u9818\u57df\u306e\u907a\u4f1d\u5b50\u304c <strong>\u672c\u6765\u306e 2\u30b3\u30d4\u30fc\u304b\u3089 3\u30b3\u30d4\u30fc\u3078\u5897\u3048\u308b\u72b6\u614b<\/strong> \u3067\u3059\u3002 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/261229?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/li>\n\n\n\n<li>14q11.2 \u9818\u57df\u306b\u306f <strong>SUPT16H\u3001CHD8 \u306a\u3069\u795e\u7d4c\u767a\u9054\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50<\/strong> \u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u91cd\u8907\u306b\u3088\u308a\u907a\u4f1d\u5b50\u7523\u7269\u304c\u904e\u5270\u306b\u306a\u308b\u3053\u3068\u304c\u75c7\u72b6\u3068\u95a2\u9023\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.malacards.org\/card\/14q112_microduplication_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n\n\n\n<li>\u91cd\u8907\u306e\u30b5\u30a4\u30ba\u306f\u75c7\u4f8b\u306b\u3088\u308a\u7570\u306a\u308a\u307e\u3059\u304c\u3001<strong>\u5fae\u5c0f\u91cd\u8907<\/strong> \u306e\u305f\u3081\u901a\u5e38\u306e\u67d3\u8272\u4f53\u89e3\u6790\u3067\u306f\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001<strong>\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u89e3\u6790\uff08CMA\uff09<\/strong> \u3084\u9ad8\u89e3\u50cf\u5ea6\u30b2\u30ce\u30e0\u89e3\u6790\u3067\u691c\u51fa\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p>14q11.2 microduplication syndrome \u306f <strong>\u6975\u3081\u3066\u7a00\u306a\u67d3\u8272\u4f53\u7570\u5e38\u75be\u60a3<\/strong> \u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3067\u306f\u3053\u306e\u75be\u60a3\u306f <strong>\u201cvery rare chromosomal anomaly\uff08\u975e\u5e38\u306b\u7a00\u306a\u67d3\u8272\u4f53\u7570\u5e38\uff09\u201d<\/strong> \u3068\u3055\u308c\u3001\u4eba\u53e3\u4e00\u5b9a\u6570\u3067\u306e\u75ab\u5b66\u7684\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/261229?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/li>\n\n\n\n<li>\u5831\u544a\u4f8b\u306f\u3044\u304f\u3064\u304b\u306e\u75c7\u4f8b\u5831\u544a\u30ec\u30d9\u30eb\u3067\u3057\u304b\u306a\u304f\u3001<strong>100\u4e07\u4eba\u306b1\u4eba\u306b\u6e80\u305f\u306a\u3044\u30ec\u30d9\u30eb\u306e\u983b\u5ea6<\/strong> \u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC12450355\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li>\u591a\u304f\u304c <strong>de novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong> \u3068\u3057\u3066\u767a\u751f\u3057\u3001\u89aa\u304b\u3089\u306e\u907a\u4f1d\u304c\u78ba\u8a8d\u3055\u308c\u308b\u4f8b\u306f\u6975\u3081\u3066\u307e\u308c\u3067\u3059\u3002 (<a href=\"https:\/\/rarediseaseshealthcenter.com\/condition\/14q11.2-microduplication-syndrome\/c\/62384?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u5065\u5eb7\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>14q11.2 microduplication syndrome \u306e\u81e8\u5e8a\u50cf\u306f\u3001\u91cd\u8907\u9818\u57df\u5185\u306e\u5f71\u97ff\u907a\u4f1d\u5b50\u306e\u91cf\u7684\u5897\u52a0\u304c\u795e\u7d4c\u767a\u9054\u3084\u8eab\u4f53\u767a\u9054\u306b\u5f71\u97ff\u3059\u308b\u305f\u3081\u3001<strong>\u795e\u7d4c\u767a\u9054\u7684\u30fb\u884c\u52d5\u7684\u30fb\u8eab\u4f53\u7684\u306a\u591a\u5f69\u306a\u75c7\u72b6<\/strong> \u3092\u5448\u3057\u307e\u3059\u3002\u4ee3\u8868\u7684\u306a\u3082\u306e\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3059\uff1a<\/p>\n\n\n\n<p><strong>\u25c6 1. \u767a\u9054\u9045\u5ef6\u30fb\u77e5\u7684\u969c\u5bb3<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u751f\u5f8c\u304b\u3089 <strong>\u904b\u52d5\u767a\u9054\u9045\u5ef6\uff08gross\/fine motor delay\uff09<\/strong>\u3001\u53ca\u3073 <strong>\u8a00\u8a9e\u767a\u9054\u9045\u5ef6\uff08speech delay\uff09<\/strong> \u304c\u898b\u3089\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/rarediseases.org\/mondo-disease\/14q11-2-microduplication-syndrome\/?utm_source=chatgpt.com\">National Organization for Rare Disorders<\/a>)<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08intellectual disability\uff09<\/strong>\uff1a\u8efd\u5ea6\u301c\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u3001\u91cd\u8907\u306e\u5927\u304d\u3055\u3084\u4ed6\u306e\u907a\u4f1d\u7684\u5909\u7570\u3068\u95a2\u9023\u3057\u3066\u7a0b\u5ea6\u304c\u5909\u308f\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/rarediseases.org\/mondo-disease\/14q11-2-microduplication-syndrome\/?utm_source=chatgpt.com\">National Organization for Rare Disorders<\/a>)<\/li>\n\n\n\n<li>\u767a\u9054\u9045\u5ef6\u306f\u672c\u75c7\u5019\u7fa4\u306e\u4e2d\u6838\u7684\u306a\u7279\u5fb4\u3068\u3055\u308c\u3001\u591a\u8077\u7a2e\u306b\u3088\u308b\u65e9\u671f\u7642\u80b2\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/globalgenes.org\/disorder\/14q11-2-microduplication-syndrome\/?utm_source=chatgpt.com\">Global Genes<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u25c6 2. \u8a00\u8a9e\u30fb\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u969c\u5bb3<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8a00\u8a9e\u7372\u5f97\u306e\u9045\u308c\u30fb\u767a\u8a71\u306e\u56f0\u96e3\uff08speech impairment\uff09<\/strong> \u304c\u3088\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/rarediseases.org\/mondo-disease\/14q11-2-microduplication-syndrome\/?utm_source=chatgpt.com\">National Organization for Rare Disorders<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u8a9e\u5f59\u306e\u7372\u5f97\u3084\u767a\u97f3\u304c\u9045\u308c\u3001\u8a00\u8a9e\u7642\u6cd5\u304c\u5fc5\u8981\u306b\u306a\u308b\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/globalgenes.org\/disorder\/14q11-2-microduplication-syndrome\/?utm_source=chatgpt.com\">Global Genes<\/a>)<\/p>\n\n\n\n<p><strong>\u25c6 3. \u884c\u52d5\u7570\u5e38\u30fb\u795e\u7d4c\u767a\u9054\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08ASD\uff09<\/strong> \u3084\u6ce8\u610f\u6b20\u5982\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u985e\u4f3c\u306e\u884c\u52d5\u3092\u793a\u3059\u75c7\u4f8b\u304c\u8907\u6570\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC12450355\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li><strong>\u53cd\u5fa9\u7684\u30fb\u5e38\u540c\u7684\u884c\u52d5\uff08stereotyped movements\uff09<\/strong>\u3001\u793e\u4f1a\u7684\u76f8\u4e92\u4f5c\u7528\u306e\u8ab2\u984c\u304c\u307f\u3089\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/rarediseases.org\/mondo-disease\/14q11-2-microduplication-syndrome\/?utm_source=chatgpt.com\">National Organization for Rare Disorders<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u25c6 4. \u3066\u3093\u304b\u3093\u30fb\u75d9\u6523<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\uff08epilepsy\uff09<\/strong> \u304c\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u7279\u306b\u4e73\u5150\u671f\uff5e\u5e7c\u5150\u671f\u306e\u767a\u4f5c\u3092\u5448\u3059\u308b\u4f8b\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/20773\/14q112-microduplication-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li>\u767a\u4f5c\u306e\u983b\u5ea6\u3084\u578b\u306f\u500b\u3005\u3067\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u795e\u7d4c\u767a\u9054\u306e\u9045\u308c\u3068\u4f75\u305b\u3066\u7ba1\u7406\u30fb\u6cbb\u7642\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/globalgenes.org\/disorder\/14q11-2-microduplication-syndrome\/?utm_source=chatgpt.com\">Global Genes<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u25c6 5. \u9854\u8c8c\u304a\u3088\u3073\u8eab\u4f53\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<p>14q11.2 \u91cd\u8907\u60a3\u8005\u3067\u306f <strong>\u8efd\u5fae\u301c\u4e2d\u7b49\u5ea6\u306e\u5f62\u614b\u7570\u5e38\uff08dysmorphic features\uff09<\/strong> \u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff1a (<a href=\"https:\/\/globalgenes.org\/disorder\/14q11-2-microduplication-syndrome\/?utm_source=chatgpt.com\">Global Genes<\/a>)<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e83\u3044\u307e\u305f\u306f\u72ed\u3044\u773c\u9593\u8ddd\u96e2\uff08hypo-\/hypertelorism\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u7570\u5e38\u8033\uff08dysplastic ears\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u77ed\u3044\u773c\u88c2\uff08short palpebral fissures\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u982d\u56f2\u306e\u7570\u5e38\uff08microcephaly \u3042\u308b\u3044\u306f macrocephaly\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u904b\u52d5\u5931\u8abf\uff08ataxia\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08hypotonia\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u53e3\u5507\u88c2\u30fb\u8edf\u53e3\u84cb\u88c2\uff08cleft palate\uff09<\/strong> \u306a\u3069\u306e\u5148\u5929\u7570\u5e38\u3092\u4f34\u3046\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/20773\/14q112-microduplication-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306f\u5fc5\u305a\u3057\u3082\u5168\u4f8b\u306b\u5171\u901a\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u75c7\u5019\u7fa4\u306e\u4e00\u90e8\u3068\u3057\u3066\u89b3\u5bdf\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/globalgenes.org\/disorder\/14q11-2-microduplication-syndrome\/?utm_source=chatgpt.com\">Global Genes<\/a>)<\/p>\n\n\n\n<p><strong>\u25c6 6. \u305d\u306e\u4ed6\u306e\u75c7\u72b6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e0d\u5747\u6574\u904b\u52d5\uff08ataxia\uff09<\/strong>\u3001<strong>\u624b\u306e\u5e38\u540c\u904b\u52d5<\/strong> \u306a\u3069\u904b\u52d5\u5236\u5fa1\u306b\u95a2\u9023\u3057\u305f\u7570\u5e38\u3002 (<a href=\"https:\/\/rarediseases.org\/mondo-disease\/14q11-2-microduplication-syndrome\/?utm_source=chatgpt.com\">National Organization for Rare Disorders<\/a>)<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u9762\u306e\u4e0d\u5b89\u5b9a\u6027\u30fb\u60c5\u7dd2\u969c\u5bb3<\/strong> \u3092\u4f34\u3046\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/globalgenes.org\/disorder\/14q11-2-microduplication-syndrome\/?utm_source=chatgpt.com\">Global Genes<\/a>)<\/li>\n\n\n\n<li><strong>\u6210\u9577\u66f2\u7dda\u306e\u5909\u52d5<\/strong>\uff08\u4f53\u91cd\u3084\u8eab\u9577\u306e\u504f\u308a\uff09\u306f\u75c7\u4f8b\u30ec\u30d9\u30eb\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u3042\u308b\u7a0b\u5ea6\u306e\u3070\u3089\u3064\u304d\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/globalgenes.org\/disorder\/14q11-2-microduplication-syndrome\/?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>14q11.2 microduplication syndrome \u306e\u4e3b\u306a\u539f\u56e0\u306f\u300114\u756a\u67d3\u8272\u4f53\u9577\u8155 q11.2 \u9818\u57df\u306e\u4e00\u90e8\u304c\u91cd\u8907\u3059\u308b\u3053\u3068\uff08chromosomal microduplication\uff09\u3067\u3059\u3002<\/strong><strong><br><\/strong>\u3053\u306e\u91cd\u8907\u306f\u67d3\u8272\u4f53\u4e0a\u306e\u907a\u4f1d\u5b50\u306e 1 \u90e8\u5206\u304c <strong>3\u30b3\u30d4\u30fc\uff08\u30c8\u30ea\u30bd\u30df\u30fc\uff09<\/strong> \u3068\u306a\u308b\u72b6\u614b\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u907a\u4f1d\u5b50\u7523\u7269\u304c\u904e\u5270\u306b\u767a\u73fe\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/20773\/14q112-microduplication-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/p>\n\n\n\n<p>\u4e3b\u306a\u30e1\u30ab\u30cb\u30ba\u30e0\u3068\u3057\u3066\u306f\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>de novo\uff08\u65b0\u751f\u5909\u7570\uff09<\/strong>\uff1a\u307b\u3068\u3093\u3069\u306e\u4f8b\u3067\u3001\u4e21\u89aa\u304b\u3089\u306f\u7d99\u627f\u3055\u308c\u305a\u65b0\u305f\u306b\u751f\u3058\u308b\u91cd\u8907\u3067\u3059\u3002 (<a href=\"https:\/\/rarediseaseshealthcenter.com\/condition\/14q11.2-microduplication-syndrome\/c\/62384?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u5065\u5eb7\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li>\u7279\u5b9a\u306e\u91cd\u8907\u9818\u57df\u306b\u306f <strong>\u795e\u7d4c\u767a\u9054\u95a2\u9023\u907a\u4f1d\u5b50\uff08CHD8 \u306a\u3069\uff09<\/strong> \u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u306e\u904e\u5270\u767a\u73fe\u304c <strong>\u795e\u7d4c\u56de\u8def\u5f62\u6210\u306e\u5236\u5fa1\u4e0d\u5168\u3084\u8a8d\u77e5\u6a5f\u80fd\u969c\u5bb3<\/strong> \u306b\u5bc4\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.malacards.org\/card\/14q112_microduplication_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>CHD8 \u306f\u81ea\u9589\u75c7\u306a\u3069\u306e\u795e\u7d4c\u767a\u9054\u75c7\u3068\u95a2\u9023\u304c\u793a\u5506\u3055\u308c\u3066\u304a\u308a\u300114q11.2 microduplication \u3067\u3082\u795e\u7d4c\u884c\u52d5\u75c7\u72b6\u3068\u306e\u95a2\u9023\u304c\u6ce8\u76ee\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.malacards.org\/card\/14q112_microduplication_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p><strong>14q11.2 microduplication syndrome \u306b\u5bfe\u3059\u308b\u6839\u672c\u6cbb\u7642\u6cd5\u306f\u73fe\u5728\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/strong><strong><br><\/strong>\u6cbb\u7642\u306f <strong>\u75c7\u72b6\u3054\u3068\u306e\u652f\u6301\u7642\u6cd5\uff08supportive care\uff09<\/strong> \u3068\u3057\u3066\u3001\u591a\u8077\u7a2e\u306e\u533b\u7642\u30fb\u7642\u80b2\u30c1\u30fc\u30e0\u306b\u3088\u308b\u5305\u62ec\u7684\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\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\u9045\u5ef6\u30fb\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3078\u306e\u4ecb\u5165<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08Occupational therapy\uff09<\/strong>\uff1a\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u30fb\u611f\u899a\u7d71\u5408\u306e\u652f\u63f4<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08Speech therapy\uff09<\/strong>\uff1a\u767a\u8a71\u30fb\u8a00\u8a9e\u767a\u9054\u9045\u5ef6\u306b\u5bfe\u3059\u308b\u65e9\u671f\u652f\u63f4<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306f <strong>\u4e73\u5e7c\u5150\u671f\u304b\u3089\u7d99\u7d9a\u3057\u3066\u884c\u3046\u3053\u3068\u304c\u63a8\u5968<\/strong> \u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\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\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong>\uff1a\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u7684\u884c\u52d5\u3001\u4e0d\u5b89\u30fb\u60c5\u7dd2\u969c\u5bb3\u3078\u306e\u5bfe\u5fdc<\/li>\n\n\n\n<li><strong>\u6559\u80b2\u652f\u63f4\u8a08\u753b\uff08IEP\uff09<\/strong>\uff1a\u5b66\u7fd2\u652f\u63f4\u3068\u74b0\u5883\u8abf\u6574<\/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\u30fb\u767a\u4f5c\u7ba1\u7406<\/strong>\uff1a\u795e\u7d4c\u79d1\u306b\u3088\u308b\u6297\u3066\u3093\u304b\u3093\u85ac\u306e\u9078\u629e<\/li>\n\n\n\n<li><strong>\u88dc\u52a9\u5177<\/strong>\uff1a\u773c\u93e1\u30fb\u88dc\u8074\u5668\u306a\u3069\u5fc5\u8981\u306b\u5fdc\u3058\u3066<\/li>\n\n\n\n<li><strong>\u5916\u79d1\u7684\u6cbb\u7642<\/strong>\uff1a\u53e3\u5507\u88c2\/\u8edf\u53e3\u84cb\u88c2\u306e\u4fee\u5fa9\u306a\u3069<\/li>\n<\/ul>\n\n\n\n<p><strong>\u5b9a\u671f\u7684\u30d5\u30a9\u30ed\u30fc<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u80b2\u30fb\u6210\u9577\u30fb\u795e\u7d4c\u6a5f\u80fd\u8a55\u4fa1<\/strong><\/li>\n\n\n\n<li><strong>\u6559\u80b2\u30fb\u793e\u4f1a\u9069\u5fdc\u652f\u63f4<\/strong><\/li>\n\n\n\n<li><strong>\u5185\u79d1\u30fb\u5c0f\u5150\u79d1\u30fb\u795e\u7d4c\u79d1\u30fb\u8033\u9f3b\u79d1\u30fb\u6574\u5f62\u5916\u79d1\u306a\u3069\u5c02\u9580\u533b\u9023\u643a<\/strong><\/li>\n<\/ul>\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><strong>\u518d\u767a\u30ea\u30b9\u30af\u8a55\u4fa1<\/strong>\uff1a\u60a3\u8005\u306e\u91cd\u8907\u304c de novo \u304b\u3069\u3046\u304b\u8a55\u4fa1<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u8a08\u753b\u306e\u652f\u63f4<\/strong>\uff1a\u6027\u8cea\u30fb\u8a3a\u65ad\u30fb\u5c06\u6765\u8a08\u753b\u306b\u3064\u3044\u3066\u89e3\u8aac<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p><strong>14q11.2 microduplication syndrome<\/strong> \u306f <strong>14\u756a\u67d3\u8272\u4f53 q11.2 \u9818\u57df\u306e\u5fae\u5c0f\u91cd\u8907<\/strong> \u306b\u3088\u3063\u3066\u751f\u3058\u308b\u6975\u3081\u3066\u7a00\u306a\u5148\u5929\u6027\u67d3\u8272\u4f53\u7570\u5e38\u75be\u60a3\u3067\u3059\u3002<br>\u4e3b\u306a\u81e8\u5e8a\u7684\u7279\u5fb4\u3068\u3057\u3066 <strong>\u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\u3001\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u3001\u884c\u52d5\u7570\u5e38\u3001\u3066\u3093\u304b\u3093\u3001\u9854\u8c8c\u7570\u5e38\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/strong> \u306a\u3069\u304c\u898b\u3089\u308c\u307e\u3059\u3002<br>\u539f\u56e0\u306f\u91cd\u8907\u306b\u3088\u308a\u5f53\u8a72\u9818\u57df\u306e\u907a\u4f1d\u5b50\u304c <strong>3\u30b3\u30d4\u30fc\uff08\u904e\u5270\u767a\u73fe\uff09<\/strong> \u3068\u306a\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u767a\u9054\u3084\u8a8d\u77e5\u6a5f\u80fd\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<br>\u6cbb\u7642\u306f\u6839\u6cbb\u7642\u6cd5\u306f\u306a\u304f\u3001<strong>\u767a\u9054\u652f\u63f4\u3001\u6559\u80b2\u652f\u63f4\u3001\u533b\u7642\u7684\u7ba1\u7406\u3001\u5fc3\u7406\u30fb\u884c\u52d5\u652f\u63f4<\/strong> \u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u591a\u8077\u7a2e\u3067\u306e\u5305\u62ec\u7684\u30b1\u30a2\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u65e9\u671f\u8a55\u4fa1\u3068\u65e9\u671f\u4ecb\u5165\u304c\u60a3\u8005\u306e\u6a5f\u80fd\u3068\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u308b\u9375\u3068\u306a\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/261229?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/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>ORPHA: <strong>14q11.2 microduplication syndrome<\/strong> \u2014 \u75ab\u5b66\u304a\u3088\u3073\u81e8\u5e8a\u7684\u7279\u5fb4\u3002 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/261229?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/li>\n\n\n\n<li>NIH GARD: <strong>14q11.2 microduplication syndrome<\/strong> \u2014 \u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\u3001\u3066\u3093\u304b\u3093\u3001\u5f62\u614b\u7570\u5e38\u306a\u3069\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/20773\/14q112-microduplication-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li>RareDiseases.org: <strong>14q11.2 microduplication syndrome<\/strong> \u2014 \u75c7\u5019\u7fa4\u6982\u8981\u304a\u3088\u3073\u95a2\u9023\u75c7\u72b6\u3002 (<a href=\"https:\/\/rarediseases.org\/mondo-disease\/14q11-2-microduplication-syndrome\/?utm_source=chatgpt.com\">National Organization for Rare Disorders<\/a>)<\/li>\n\n\n\n<li>Malacards: <strong>14q11.2 microduplication syndrome profile<\/strong> \u2014 \u9023\u95a2\u907a\u4f1d\u5b50\uff08CHD8 \u306a\u3069\uff09\u3068\u306e\u95a2\u9023\u3002 (<a href=\"https:\/\/www.malacards.org\/card\/14q112_microduplication_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n\n\n\n<li>Williams JM \u4ed6\uff1a<strong>Neurodevelopmental and behavioral phenotypes in 14q11.2 microduplication syndrome<\/strong> \u2014 \u75c7\u4f8b\u5831\u544a\u3068\u6587\u732e\u30ec\u30d3\u30e5\u30fc\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC12450355\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n<\/ol>\n\n\n\n<p><\/p>\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-16616","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\/16616","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\/16616\/revisions"}],"predecessor-version":[{"id":16618,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16616\/revisions\/16618"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16616"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}