{"id":16625,"date":"2026-01-19T06:52:19","date_gmt":"2026-01-19T06:52:19","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16625"},"modified":"2026-01-20T02:46:59","modified_gmt":"2026-01-20T02:46:59","slug":"14q24-1-q24-3-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/14q24-1-q24-3-microdeletion-syndrome\/","title":{"rendered":"14q24.1-q24.3 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)(q24.1q24.3)<\/strong>\uff0814q24.1\u2013q24.3\u6b20\u5931\uff09 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21706\/14q241q243-microdeletion-syndrome\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li><strong>monosomy 14q24.1q24.3<\/strong>\uff0814q24.1\u2013q24.3 \u90e8\u5206\u5358\u4e00\u4f53\uff09 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21706\/14q241q243-microdeletion-syndrome\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li>\u6587\u732e\u3067\u306f\u300c<strong>interstitial 14q24.1q24.3 deletion<\/strong>\uff0814q24.1\u2013q24.3\u306e\u9593\u8cea\u6b20\u5931\uff09\u300d\u306e\u8868\u73fe\u304c\u7528\u3044\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24357125\/\">PubMed<\/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<ul class=\"wp-block-list\">\n<li>14\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0914q24.1\u301c14q24.3 \u306e\u5fae\u5c0f\u6b20\u5931\uff08microdeletion\uff09<strong>\u304c\u539f\u56e0\u3068\u306a\u308b\u75c7\u5019\u7fa4\u3067\u3059\u3002\u591a\u304f\u306f\u67d3\u8272\u4f53\u306e\u672b\u7aef\u6b20\u5931\u3067\u306f\u306a\u304f\u3001\u67d3\u8272\u4f53\u5185\u90e8\u306e\u4e00\u90e8\u304c\u629c\u3051\u308b<\/strong>\u9593\u8cea\u6b20\u5931\uff08interstitial deletion\uff09\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24357125\/\">PubMed<\/a>)<\/li>\n\n\n\n<li>\u6b20\u5931\u30b5\u30a4\u30ba\u306f\u75c7\u4f8b\u306b\u3088\u308a\u7570\u306a\u308a\u3001\u5831\u544a\u4f8b\u3067\u306f<strong>2.3\u301c5.4Mb\u7a0b\u5ea6\u306e\u91cd\u306a\u308a\u5408\u3046de novo\u6b20\u5931<\/strong>\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\uff08\u3044\u305a\u308c\u3082\u89aa\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u305a\u65b0\u305f\u306b\u751f\u3058\u305f\u6b20\u5931\uff09\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24357125\/\">PubMed<\/a>)<\/li>\n\n\n\n<li>\u7814\u7a76\u3067\u306f\u3001\u91cd\u8907\u3059\u308b\u5171\u901a\u6b20\u5931\u533a\u9593\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u5019\u88dc\u3068\u3057\u3066<strong>ACTN1\u3001DCAF5\u3001SLC39A9\u3001SRSF5\u3001SLC10A1\u3001SMOC1\u3001SLC8A3\u3001COX16\u3001SYNJ2BP<\/strong>\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u3001\u6b20\u5931\u306b\u3088\u308b\u30cf\u30d7\u30ed\u4e0d\u5168\uff08haploinsufficiency\uff09\u304c\u75c7\u72b6\u306b\u95a2\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24357125\/\">PubMed<\/a>)<\/li>\n\n\n\n<li>\u5225\u306e\u75c7\u4f8b\u5831\u544a\u3067\u306f\u3001\u6b20\u5931\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u3046\u3061<strong>NUMB\u3001PSEN1<\/strong>\u306a\u3069\u304c\u8868\u73fe\u578b\u3068\u306e\u95a2\u9023\u5019\u88dc\u3068\u3057\u3066\u8b70\u8ad6\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/link.springer.com\/article\/10.1186\/1755-8166-7-49\">Springer<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u306f<strong>\u975e\u5e38\u306b\u7a00<\/strong>\u3067\u3001\u75c7\u4f8b\u5831\u544a\u30d9\u30fc\u30b9\u3067\u75be\u60a3\u6982\u5ff5\u304c\u6574\u7406\u3055\u308c\u3066\u304d\u305f\u9818\u57df\u3067\u3059\u3002\u521d\u671f\u306e\u5831\u544a\u3067\u306f\u300114q24.1\u2013q24.3\u306e\u9593\u8cea\u6b20\u5931\u306f\u300c\u975e\u5e38\u306b\u7a00\u300d\u3067\u3001<strong>\u91cd\u306a\u308a\u5408\u3046de novo\u6b20\u5931\u3092\u3082\u30643\u4f8b<\/strong>\u304c\u63d0\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24357125\/\">PubMed<\/a>)<\/li>\n\n\n\n<li>\u305d\u306e\u5f8c\u3082\u5831\u544a\u306f\u9650\u3089\u308c\u3066\u304a\u308a\u3001GARD\uff08\u7c73\u56fdNIH\u7cfb\u306e\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\uff09\u3067\u306f\u3001\u7c73\u56fd\u3067\u306e\u60a3\u8005\u6570\u63a8\u5b9a\u3068\u3057\u3066\u300c<strong>1,000\u4eba\u672a\u6e80<\/strong>\u300d\u3068\u3044\u3063\u305f\u898f\u6a21\u611f\u3067\u7d39\u4ecb\u3055\u308c\u3066\u3044\u307e\u3059\uff08\u5e0c\u5c11\u75be\u60a3\u306e\u305f\u3081\u63a8\u5b9a\uff09\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21706\/14q241q243-microdeletion-syndrome\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li>\u75ab\u5b66\u7684\u306b\u6bcd\u96c6\u56e3\u3092\u7f6e\u3044\u305f\u660e\u78ba\u306a\u51fa\u751f\u983b\u5ea6\uff08\u4f8b\uff1a\u25cb\u4e07\u4eba\u306b1\u4eba\uff09\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u5831\u544a\u306e\u96c6\u7a4d\u304c\u9032\u3080\u306b\u3064\u308c\u3001\u8868\u73fe\u578b\u306e\u5e45\uff08\u8efd\u75c7\u301c\u8907\u5408\u75c7\u72b6\uff09\u304c\u3088\u308a\u660e\u78ba\u306b\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24357125\/\">PubMed<\/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>\u672c\u75c7\u5019\u7fa4\u306f\u300c<strong>\u75c7\u5019\u6027\u306e\u77e5\u7684\u767a\u9054\u75c7\uff08syndromic intellectual disability\uff09<\/strong>\u300d\u3068\u3057\u3066\u6574\u7406\u3055\u308c\u3001\u767a\u9054\u30fb\u5fc3\u81d3\u30fb\u56db\u80a2\uff08\u624b\u6307\uff09\u30fb\u9854\u8c8c\u306a\u3069\u8907\u6570\u7cfb\u7d71\u306b\u307e\u305f\u304c\u308b\u6240\u898b\u304c\u7d44\u307f\u5408\u308f\u3055\u308b\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21706\/14q241q243-microdeletion-syndrome\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/p>\n\n\n\n<p><strong>1\uff09\u767a\u9054\u30fb\u795e\u7d4c\u767a\u9054\uff08\u77e5\u7684\u6a5f\u80fd\u3001\u8a00\u8a9e\u3001\u904b\u52d5\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4ee3\u8868\u7684\u306a\u4e2d\u6838\u6240\u898b\u3068\u3057\u3066\u3001<strong>\u8efd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3<\/strong>\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21706\/14q241q243-microdeletion-syndrome\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c<\/strong>\uff08speech development\u306e\u9045\u5ef6\uff09\u304c\u3088\u304f\u307f\u3089\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21706\/14q241q243-microdeletion-syndrome\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li>\u75c7\u4f8b\u306b\u3088\u3063\u3066\u306f\u300c\u8efd\u5ea6\u300d\u3088\u308a\u3082\u8907\u96d1\u306a\u795e\u7d4c\u5b66\u7684\u554f\u984c\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u3001\u3042\u308b\u5831\u544a\u3067\u306f<strong>\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede<\/strong>\u306b\u52a0\u3048\u3066\u3001<strong>\u3051\u3044\u308c\u3093\uff08seizures\uff09<\/strong>\u3001\u8133\u306e\u7570\u5e38\u6240\u898b\u3092\u542b\u3080\u8907\u5408\u7684\u8868\u73fe\u578b\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/link.springer.com\/article\/10.1186\/1755-8166-7-49\">Springer<\/a>)<\/li>\n\n\n\n<li>\u4e73\u5e7c\u5150\u671f\u304b\u3089\u306e<strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08hypotonia\uff09<\/strong>\u3001\u54fa\u4e73\u4e0d\u826f\u306a\u3069\u304c\u65e9\u671f\u5fb4\u5019\u3068\u3057\u3066\u307f\u3089\u308c\u305f\u75c7\u4f8b\u3082\u3042\u308a\u3001\u767a\u9054\u9045\u308c\u306e\u80cc\u666f\u306b\u904b\u52d5\u30fb\u6442\u98df\u9762\u306e\u8ab2\u984c\u304c\u95a2\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/link.springer.com\/article\/10.1186\/1755-8166-7-49\">Springer<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>2\uff09\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08Congenital heart defects\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>3\u4f8b\u306e\u91cd\u8907\u6b20\u5931\u5831\u544a\u3067\u306f\u3001\u5168\u4f8b\u306b<strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3<\/strong>\u304c\u8a8d\u3081\u3089\u308c\u3001\u5177\u4f53\u4f8b\u3068\u3057\u3066<strong>\u7dcf\u52d5\u8108\u5e79\uff08truncus arteriosus\uff09<\/strong>\u3001<strong>\u80ba\u52d5\u8108\u9589\u9396\uff08pulmonary atresia\uff09<\/strong>\u3001<strong>\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\uff08ASD\uff09<\/strong>\u3001\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\uff08VSD\uff09\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24357125\/\">PubMed<\/a>)<\/li>\n\n\n\n<li>GARD\u306e\u8981\u7d04\u3067\u3082\u3001\u4e3b\u8981\u6240\u898b\u3068\u3057\u3066<strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3<\/strong>\u304c\u660e\u8a18\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21706\/14q241q243-microdeletion-syndrome\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<br>\u5fc3\u75be\u60a3\u306f\u751f\u547d\u4e88\u5f8c\u3084\u751f\u6d3b\u306e\u8cea\u306b\u5f71\u97ff\u3057\u5f97\u308b\u305f\u3081\u3001\u8a3a\u65ad\u5f8c\u306f\u5faa\u74b0\u5668\u5c02\u9580\u533b\u306e\u8a55\u4fa1\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3\uff09\u56db\u80a2\u30fb\u9aa8\u683c\uff08\u7279\u306b\u624b\u6307\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5178\u578b\u6240\u898b\u3068\u3057\u3066\u77ed\u6307\u75c7\uff08brachydactyly\uff09\u304c\u6319\u3052\u3089\u308c\u3001\u8907\u6570\u4f8b\u3067\u5171\u901a\u3057\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21706\/14q241q243-microdeletion-syndrome\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li>\u75c7\u4f8b\u5831\u544a\u3067\u306f\u9aa8\u683c\u7cfb\u306e\u7570\u5e38\u304c\u3088\u308a\u5e83\u7bc4\u306b\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u500b\u3005\u306e\u6b20\u5931\u7bc4\u56f2\u3084\u4f75\u5b58\u6240\u898b\u306b\u3088\u308a\u91cd\u75c7\u5ea6\u306f\u5909\u52d5\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/link.springer.com\/article\/10.1186\/1755-8166-7-49\">Springer<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>4\uff09\u9854\u8c8c\u306e\u7279\u5fb4\uff08dysmorphic facial features\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5171\u901a\u3057\u3066\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u9854\u8c8c\u6240\u898b\u3068\u3057\u3066\u3001<strong>\u773c\u9593\u958b\u96e2\uff08hypertelorism\uff09<\/strong>\u3001<strong>\u5e45\u5e83\u3044\u9f3b\u6881\uff08broad nasal bridge\uff09<\/strong>\u3001\u4e0a\u53e3\u5507\u304c\u8584\u3044\uff08thin upper lips\uff09\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24357125\/\">PubMed<\/a>)<\/li>\n\n\n\n<li>GARD\u3067\u3082\u300c<strong>dysmorphic facial features<\/strong>\u300d\u304c\u4e3b\u8981\u6240\u898b\u306b\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21706\/14q241q243-microdeletion-syndrome\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>5\uff09\u305d\u306e\u4ed6\uff08\u75c7\u4f8b\u306b\u3088\u308a\u51fa\u73fe\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>3\u4f8b\u306e\u5831\u544a\u3067\u306f\u3001\u5168\u4f8b\u5171\u901a\u3067\u306f\u306a\u3044\u6240\u898b\u3068\u3057\u3066<strong>\u8178\u56de\u8ee2\u7570\u5e38\uff08intestinal malrotation\uff09<\/strong>\u3001<strong>\u505c\u7559\u7cbe\u5de3\uff08cryptorchidism\uff09<\/strong>\u3001\u7570\u6240\u6027\u814e\uff08ectopic kidney\uff09\u306a\u3069\u304c\u5358\u72ec\u75c7\u4f8b\u3067\u89b3\u5bdf\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24357125\/\">PubMed<\/a>)<\/li>\n\n\n\n<li>\u5225\u306e\u75c7\u4f8b\u5831\u544a\u3067\u306f\u3001<strong>\u6c17\u7ba1\u652f\u80ba\u7cfb\u306e\u554f\u984c\u3001\u8133\u7570\u5e38\u3001\u9aa8\u683c\u7570\u5e38<\/strong>\u306a\u3069\u3092\u542b\u3080\u3088\u308a\u8907\u96d1\u306a\u8868\u73fe\u578b\u304c\u8a18\u8f09\u3055\u308c\u3066\u304a\u308a\u3001\u540c\u3058\u9818\u57df\u6b20\u5931\u3067\u3082\u81e8\u5e8a\u50cf\u304c\u5e83\u304c\u308a\u5f97\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/link.springer.com\/article\/10.1186\/1755-8166-7-49\">Springer<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u539f\u56e0\u306f\u3001<strong>14q24.1\u301c14q24.3\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931<\/strong>\u3067\u3059\u3002\u907a\u4f1d\u5b50\u304c1\u30b3\u30d4\u30fc\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u3001\u95a2\u9023\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u91cf\u304c\u4e0d\u8db3\u3059\u308b<strong>\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong>\u304c\u75c5\u614b\u306b\u95a2\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24357125\/\">PubMed<\/a>)<\/li>\n\n\n\n<li>\u65e2\u5831\u4f8b\u3067\u306f\u3001\u6b20\u5931\u306f\u591a\u304f\u304cde novo\uff08\u65b0\u751f\uff09\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24357125\/\">PubMed<\/a>)<\/li>\n\n\n\n<li>\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u306b\u306f\u3001\u5171\u901a\u6b20\u5931\u533a\u9593\u306b\u542b\u307e\u308c\u308b\u8907\u6570\u907a\u4f1d\u5b50\u306e\u3046\u3061\u3001\u3069\u306e\u907a\u4f1d\u5b50\uff08\u307e\u305f\u306f\u907a\u4f1d\u5b50\u7fa4\uff09\u304c\u4e3b\u8981\u6240\u898b\uff08\u5fc3\u75be\u60a3\u30fb\u77ed\u6307\u75c7\u30fb\u767a\u9054\u9045\u308c\u306a\u3069\uff09\u306b\u5f37\u304f\u5bc4\u4e0e\u3059\u308b\u304b\u306f\u3001\u73fe\u5728\u3082\u75c7\u4f8b\u84c4\u7a4d\u3068\u6a5f\u80fd\u89e3\u6790\u3067\u691c\u8a0e\u3055\u308c\u308b\u9818\u57df\u3067\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24357125\/\">PubMed<\/a>)<\/li>\n\n\n\n<li>\u691c\u51fa\u306b\u306f\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\uff08CMA\/array-CGH\uff09\u306a\u3069\u306e\u30b3\u30d4\u30fc\u6570\u89e3\u6790\u304c\u7528\u3044\u3089\u308c\u3001\u901a\u5e38\u306e\u6838\u578b\u691c\u67fb\u3067\u306f\u5fae\u5c0f\u6b20\u5931\u304c\u691c\u51fa\u3055\u308c\u306a\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\uff08\u75c7\u4f8b\u5831\u544a\u3067\u3082array-CGH\u3067\u540c\u5b9a\uff09\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24357125\/\">PubMed<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306b\u300c\u6b20\u5931\u305d\u306e\u3082\u306e\u3092\u5143\u306b\u623b\u3059\u300d\u6839\u672c\u6cbb\u7642\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u6cbb\u7642\u306e\u4e2d\u5fc3\u306f\u3001\u5408\u4f75\u75c7\u30fb\u767a\u9054\u8ab2\u984c\u306b\u5bfe\u3059\u308b\u75c7\u72b6\u5225\u306e\u7ba1\u7406\uff08\u652f\u6301\u7642\u6cd5\uff09\u3068\u3001\u7d99\u7d9a\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u3067\u3059\u3002\u75be\u60a3\u306e\u4e3b\u8981\u6240\u898b\u304c\u591a\u9818\u57df\u306b\u308f\u305f\u308b\u305f\u3081\u3001\u521d\u671f\u304b\u3089\u591a\u8077\u7a2e\u9023\u643a\u304c\u91cd\u8981\u306b\u306a\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21706\/14q241q243-microdeletion-syndrome\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/p>\n\n\n\n<p><strong>1\uff09\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3078\u306e\u5bfe\u5fdc<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u30a8\u30b3\u30fc\u306a\u3069\u3067\u75c5\u578b\u3068\u91cd\u75c7\u5ea6\u3092\u8a55\u4fa1\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066<strong>\u5fc3\u81d3\u5916\u79d1\u7684\u6cbb\u7642<\/strong>\u3084<strong>\u85ac\u7269\u6cbb\u7642<\/strong>\u3001\u9577\u671f\u30d5\u30a9\u30ed\u30fc\u3092\u884c\u3044\u307e\u3059\u3002\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306f\u672c\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u6240\u898b\u3068\u3057\u3066\u8907\u6570\u4f8b\u3067\u4e00\u8cab\u3057\u3066\u304a\u308a\u3001\u8a3a\u65ad\u5f8c\u306e\u6700\u512a\u5148\u8a55\u4fa1\u9805\u76ee\u3068\u306a\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24357125\/\">PubMed<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>2\uff09\u767a\u9054\u9045\u5ef6\u30fb\u8a00\u8a9e\u9045\u5ef6\u3078\u306e\u4ecb\u5165<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5e7c\u5150\u671f\u304b\u3089\u306e<strong>\u65e9\u671f\u7642\u80b2<\/strong>\uff08\u767a\u9054\u8a55\u4fa1\u306b\u57fa\u3065\u304f\u500b\u5225\u652f\u63f4\uff09\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5<\/strong>\uff08\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4\u3001\u767a\u8a9e\u30fb\u69cb\u97f3\u306e\u8a13\u7df4\uff09\u3001<strong>\u4f5c\u696d\u7642\u6cd5<\/strong>\uff08\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u30fb\u5de7\u7dfb\u904b\u52d5\uff09\u3001<strong>\u7406\u5b66\u7642\u6cd5<\/strong>\uff08\u7c97\u5927\u904b\u52d5\u3001\u7b4b\u7dca\u5f35\u30fb\u59ff\u52e2\u3001\u6b69\u884c\uff09\u3092\u7d44\u307f\u5408\u308f\u305b\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u75c7\u4f8b\u306b\u3088\u308a\u77e5\u7684\u6a5f\u80fd\u306f\u8efd\u5ea6\u3068\u3055\u308c\u307e\u3059\u304c\u3001\u5b66\u7fd2\u9762\u30fb\u793e\u4f1a\u9069\u5fdc\u9762\u306e\u652f\u63f4\u30cb\u30fc\u30ba\u306f\u500b\u5225\u6027\u304c\u9ad8\u3044\u305f\u3081\u3001\u5c31\u5b66\u524d\u304b\u3089\u5b66\u6821\u671f\u307e\u3067\u4e00\u8cab\u3057\u305f\u652f\u63f4\u8a2d\u8a08\u304c\u671b\u307e\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21706\/14q241q243-microdeletion-syndrome\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>3\uff09\u3051\u3044\u308c\u3093\u30fb\u795e\u7d4c\u5b66\u7684\u554f\u984c\u3078\u306e\u5bfe\u5fdc\uff08\u8a72\u5f53\u4f8b\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3051\u3044\u308c\u3093\u304c\u3042\u308b\u5834\u5408\u306f\u5c0f\u5150\u795e\u7d4c\u79d1\u3067\u8a55\u4fa1\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066<strong>\u6297\u3066\u3093\u304b\u3093\u85ac<\/strong>\u3092\u4f7f\u7528\u3057\u307e\u3059\u3002\u795e\u7d4c\u75c7\u72b6\u306f\u5168\u4f8b\u306b\u5fc5\u767a\u3067\u306f\u306a\u3044\u3082\u306e\u306e\u3001\u8907\u5408\u8868\u73fe\u578b\u306e\u75c7\u4f8b\u5831\u544a\u304c\u3042\u308b\u305f\u3081\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002 (<a href=\"https:\/\/link.springer.com\/article\/10.1186\/1755-8166-7-49\">Springer<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>4\uff09\u56db\u80a2\u30fb\u9aa8\u683c\uff08\u77ed\u6307\u75c7\u306a\u3069\uff09\u3078\u306e\u5bfe\u5fdc<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6a5f\u80fd\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u3088\u308a\u3001\u6574\u5f62\u5916\u79d1\u8a55\u4fa1\u3001\u30ea\u30cf\u30d3\u30ea\u3001\u88dc\u52a9\u5177\u306e\u691c\u8a0e\u3092\u884c\u3044\u307e\u3059\u3002\u77ed\u6307\u75c7\u306f\u4e3b\u8981\u6240\u898b\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u307e\u3059\u304c\u3001\u65e5\u5e38\u751f\u6d3b\u3067\u306e\u56f0\u308a\u3054\u3068\u306f\u500b\u5225\u6027\u304c\u9ad8\u3044\u305f\u3081\u3001\u751f\u6d3b\u5834\u9762\u306b\u5373\u3057\u305f\u652f\u63f4\u3092\u7d44\u307f\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24357125\/\">PubMed<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>5\uff09\u6d88\u5316\u7ba1\u30fb\u6ccc\u5c3f\u751f\u6b96\u5668\u306a\u3069\u306e\u5408\u4f75\u75c7\u8a55\u4fa1\uff08\u8a72\u5f53\u4f8b\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8178\u56de\u8ee2\u7570\u5e38\u3001\u505c\u7559\u7cbe\u5de3\u3001\u814e\u306e\u4f4d\u7f6e\u7570\u5e38\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u81e8\u5e8a\u75c7\u72b6\u3084\u5065\u8a3a\u6240\u898b\u306b\u5fdc\u3058\u3066\u753b\u50cf\u691c\u67fb\u30fb\u5c02\u9580\u79d1\u7d39\u4ecb\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24357125\/\">PubMed<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>6\uff09\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u304cde novo\u3068\u5831\u544a\u3055\u308c\u307e\u3059\u304c\u3001\u518d\u767a\u30ea\u30b9\u30af\u306e\u8a55\u4fa1\uff08\u4e21\u89aa\u691c\u67fb\u3092\u542b\u3080\uff09\u3084\u3001\u4eca\u5f8c\u306e\u598a\u5a20\u306b\u304a\u3051\u308b\u691c\u67fb\u9078\u629e\u80a2\u306e\u8aac\u660e\u306e\u305f\u3081\u3001<strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong>\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24357125\/\">PubMed<\/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>14q24.1-q24.3 microdeletion syndrome<\/strong>\u306f\u300114\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e<strong>14q24.1\u301c14q24.3<\/strong>\u306b\u751f\u3058\u308b\u5fae\u5c0f\u6b20\u5931\u306b\u3088\u308b\u3001\u975e\u5e38\u306b\u7a00\u306a\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002\u4e2d\u6838\u6240\u898b\u3068\u3057\u3066\u3001<strong>\u8efd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3<\/strong>\u3068<strong>\u8a00\u8a9e\u767a\u9054\u9045\u5ef6<\/strong>\u3001<strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3<\/strong>\u3001<strong>\u77ed\u6307\u75c7\uff08brachydactyly\uff09<\/strong>\u3001\u304a\u3088\u3073<strong>\u7279\u5fb4\u7684\u9854\u8c8c<\/strong>\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21706\/14q241q243-microdeletion-syndrome\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<br>\u6b20\u5931\u306f\u591a\u304f\u304c<strong>de novo<\/strong>\u3067\u3001\u5171\u901a\u6b20\u5931\u533a\u9593\u306b\u542b\u307e\u308c\u308b\u8907\u6570\u907a\u4f1d\u5b50\u306e<strong>\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong>\u304c\u75c7\u72b6\u306b\u95a2\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24357125\/\">PubMed<\/a>)<br>\u6cbb\u7642\u306f\u6839\u672c\u6cbb\u7642\u3067\u306f\u306a\u304f\u3001<strong>\u5fc3\u75be\u60a3\u306e\u8a55\u4fa1\u3068\u6cbb\u7642<\/strong>\u3001<strong>\u767a\u9054\u652f\u63f4\uff08\u8a00\u8a9e\u30fb\u4f5c\u696d\u30fb\u7406\u5b66\u7642\u6cd5\uff09<\/strong>\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f<strong>\u795e\u7d4c\u5b66\u7684\u7ba1\u7406<\/strong>\u3084\u5408\u4f75\u75c7\u5bfe\u5fdc\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u652f\u6301\u7642\u6cd5\u304c\u4e2d\u5fc3\u3067\u3059\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21706\/14q241q243-microdeletion-syndrome\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/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>GARD\uff08Genetic and Rare Diseases Information Center, NIH\u7cfb\uff09\uff1a14q24.1q24.3 microdeletion syndrome\uff08\u75be\u60a3\u6982\u8981\u3001\u5225\u540d\u3001\u4e3b\u8981\u75c7\u72b6\u3001\u60a3\u8005\u898f\u6a21\u63a8\u5b9a\uff09 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21706\/14q241q243-microdeletion-syndrome\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li>Oehl-Jaschkowitz B, et al. <strong>Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability.<\/strong> <em>Am J Med Genet A.<\/em> 2014\uff083\u4f8b\u306e\u91cd\u8907\u6b20\u5931\u3001\u4e3b\u8981\u75c7\u72b6\u3001\u5019\u88dc\u907a\u4f1d\u5b50\u7fa4\uff09 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24357125\/\">PubMed<\/a>)<\/li>\n\n\n\n<li>Tassano E, et al. <strong>Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion.<\/strong> <em>Molecular Cytogenetics.<\/em> 2014\uff08\u8907\u5408\u8868\u73fe\u578b\u3001\u3051\u3044\u308c\u3093\u3001\u5fc3\u75be\u60a3\u3001\u5019\u88dc\u907a\u4f1d\u5b50\u8b70\u8ad6\uff09 (<a href=\"https:\/\/link.springer.com\/article\/10.1186\/1755-8166-7-49\">Springer<\/a>)<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem 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