{"id":16641,"date":"2026-01-19T07:18:17","date_gmt":"2026-01-19T07:18:17","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16641"},"modified":"2026-01-19T07:19:42","modified_gmt":"2026-01-19T07:19:42","slug":"15q14-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/15q14-microdeletion-syndrome\/","title":{"rendered":"15q14 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>Chromosome 15q14 deletion syndrome<\/strong>\uff0815q14\u6b20\u5931\u75c7\u5019\u7fa4\uff09 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/930899\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>Monosomy 15q14 \/ del(15)(q14)<\/strong>\uff0815q14\u90e8\u5206\u5358\u4f53\u6027\uff0f15q14\u6b20\u5931\uff09 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/930899\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>Cleft palate\u2013congenital heart defect\u2013intellectual disability syndrome due to 15q14 microdeletion<\/strong>\uff0815q14\u5fae\u5c0f\u6b20\u5931\u306b\u3088\u308b\u300c\u53e3\u84cb\u88c2\uff0b\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff0b\u77e5\u7684\u767a\u9054\u306e\u969c\u5bb3\u300d\u75c7\u5019\u7fa4\uff09<br>\u203b\u672c\u75c7\u5019\u7fa4\u306e\u4e2d\u6838\u8868\u73fe\u578b\uff08\u53e3\u84cb\u306e\u7570\u5e38\u30fb\u5fc3\u5947\u5f62\u30fb\u767a\u9054\/\u77e5\u7684\u306e\u8ab2\u984c\uff09\u3092\u5f37\u8abf\u3057\u305f\u547c\u79f0\u3068\u3057\u3066\u6271\u308f\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q14_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>MEIS2 haploinsufficiency-related phenotype<\/strong>\uff08MEIS2\u534a\u91cf\u4e0d\u5168\u95a2\u9023\u8868\u73fe\u578b\uff09<br>\u203b15q14\u6b20\u5931\u3067\u3057\u3070\u3057\u3070\u542b\u307e\u308c\u308b <strong>MEIS2<\/strong> \u306e\u6a5f\u80fd\u4f4e\u4e0b\u304c\u4e3b\u8981\u75c7\u72b6\u306b\u95a2\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/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>15\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0915q14\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931<\/strong>\uff08microdeletion\uff09\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002\u6b20\u5931\u306e\u5927\u304d\u3055\uff08kb\u301cMb\uff09\u3084\u30d6\u30ec\u30a4\u30af\u30dd\u30a4\u30f3\u30c8\u306f\u75c7\u4f8b\u3054\u3068\u306b\u7570\u306a\u308a\u3001<strong>15q14\u5358\u72ec<\/strong>\u306e\u6b20\u5931\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u308b\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u5468\u8fba\u9818\u57df\uff08\u4f8b\uff1a15q13\u301c15q15\uff09\u307e\u3067\u53ca\u3076\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u4ee3\u8868\u7684\u306b\u95a2\u4e0e\u304c\u8b70\u8ad6\u3055\u308c\u308b\u907a\u4f1d\u5b50\u30fb\u9818\u57df<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>MEIS2\uff0815q14\uff09<\/strong>\uff1a15q14\u6b20\u5931\u3067\u983b\u7e41\u306b\u542b\u307e\u308c\u3001\u53e3\u84cb\u306e\u7570\u5e38\uff08\u7c98\u819c\u4e0b\u53e3\u84cb\u88c2\u3092\u542b\u3080\uff09\u3001\u7279\u5fb4\u7684\u9854\u8c8c\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3001\u767a\u9054\u9045\u5ef6\/ASD \u306a\u3069\u306e\u4e2d\u6838\u75c7\u72b6\u306b\u95a2\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\n<ul class=\"wp-block-list\">\n<li>RareChromo\uff08Unique\uff09\u8cc7\u6599\u3067\u306f MEIS2 \u306e\u5ea7\u6a19\u4f8b\u3068\u3057\u3066 <strong>GRCh37\/hg19: 37,183,222\u201337,393,500<\/strong>\u3001<strong>GRCh38\/hg38: 36,889,204\u201337,101,311<\/strong> \u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\uff08\u907a\u4f1d\u5b50\u5ea7\u6a19\u306f\u53c2\u7167\u30a2\u30bb\u30f3\u30d6\u30ea\u306b\u4f9d\u5b58\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ACTC1<\/strong>\uff1a\u3088\u308a\u5e83\u3044\u6b20\u5931\u3067\u542b\u307e\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08\u4f8b\uff1a\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u306a\u3069\uff09\u3068\u306e\u95a2\u9023\u304c\u8b70\u8ad6\u3055\u308c\u308b\u75c7\u4f8b\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S1028455916000486?utm_source=chatgpt.com\">\u30b5\u30a4\u30a8\u30f3\u30b9\u30c0\u30a4\u30ec\u30af\u30c8<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u306a\u304a\u300115q14\u6b20\u5931\u304c <strong>MEIS2\u3092\u542b\u307e\u306a\u3044<\/strong> \u4f8b\u3082\u3042\u308a\u3001\u305d\u306e\u5834\u5408\u306f\u4ed6\u306e\u6b20\u5931\u907a\u4f1d\u5b50\u304c\u75c7\u72b6\u306b\u5f71\u97ff\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p>\u975e\u5e38\u306b\u7a00\uff08\u8d85\u5e0c\u5c11\uff09\u3067\u3001\u6b63\u78ba\u306a\u51fa\u751f\u983b\u5ea6\u30fb\u6709\u75c5\u7387\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093\u3002MedGen\uff08Orphanet\u7531\u6765\u306e\u8a18\u8f09\u3092\u542b\u3080\uff09\u3067\u3082\u3001\u75be\u60a3\u5b9a\u7fa9\u306f\u793a\u3055\u308c\u308b\u4e00\u65b9\u3067\u3001\u4e00\u822c\u96c6\u56e3\u306b\u304a\u3051\u308b\u78ba\u5b9a\u7684\u306a\u983b\u5ea6\u5024\u306f\u793a\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/930899\">NCBI<\/a>)<\/p>\n\n\n\n<p>\u4e00\u65b9\u3067\u3001RareChromo\uff08Unique\uff09\u306e\u8cc7\u6599\u3067\u306f\u300c<strong>15q14\u5358\u72ec\u6b20\u5931<\/strong>\u300d\u3068\u3057\u3066\u533b\u5b66\u6587\u732e\u4e0a <strong>\u5c11\u306a\u304f\u3068\u308230\u4f8b<\/strong>\u304c\u5831\u544a\u3055\u308c\u3001Unique\u306b\u3082\u8ffd\u52a0\u306e\u767b\u9332\u4f8b\u304c\u3042\u308b\u3001\u3068\u3044\u3046\u8da3\u65e8\u306e\u8a18\u8f09\u304c\u3042\u308a\u307e\u3059\uff08\u6642\u70b9\u4f9d\u5b58\uff09\u3002<\/p>\n\n\n\n<p>\u983b\u5ea6\u304c\u5b9a\u307e\u308a\u306b\u304f\u3044\u7406\u7531\u3068\u3057\u3066\u3001<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u30b5\u30a4\u30ba\u3068\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u304c\u75c7\u4f8b\u3054\u3068\u306b\u7570\u306a\u308b<\/li>\n\n\n\n<li>\u75c7\u72b6\u306e\u8efd\u91cd\u304c\u5e45\u5e83\u304f\u3001\u8efd\u75c7\u4f8b\u306f\u8a3a\u65ad\u306b\u81f3\u308a\u306b\u304f\u3044<\/li>\n\n\n\n<li>CMA\uff08\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\uff09\u306a\u3069\u691c\u67fb\u666e\u53ca\u3068\u3068\u3082\u306b\u691c\u51fa\u304c\u5897\u3048\u3046\u308b<br>\u3068\u3044\u3063\u305f\u70b9\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/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>15q14 microdeletion syndrome \u306e\u8868\u73fe\u578b\u306f\u5e45\u304c\u5e83\u3044\u3082\u306e\u306e\u3001\u7279\u306b <strong>MEIS2\u3092\u542b\u3080\u6b20\u5931<\/strong>\u3067\u306f\u3001\u4ee5\u4e0b\u306e\u7d44\u307f\u5408\u308f\u305b\u304c\u7e70\u308a\u8fd4\u3057\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1) \u767a\u9054\u30fb\u5b66\u7fd2\uff08\u795e\u7d4c\u767a\u9054\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u5ef6<\/strong>\uff08\u4e73\u5e7c\u5150\u671f\u304b\u3089\u306e\u904b\u52d5\u30fb\u8a00\u8a9e\u306e\u7372\u5f97\u306e\u9045\u308c\uff09 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/930899\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\uff0f\u77e5\u7684\u969c\u5bb3<\/strong>\uff1a\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u5f97\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/930899\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u8ab2\u984c<\/strong>\uff1a\u69cb\u97f3\u306e\u554f\u984c\u3001\u9f3b\u54bd\u8154\u9589\u9396\u4e0d\u5168\uff08\u53e3\u84cb\u306e\u7570\u5e38\u306b\u95a2\u9023\uff09\u306b\u3088\u308b\u9f3b\u58f0\u3001\u5b66\u7ae5\u671f\u4ee5\u964d\u306e\u8aad\u307f\u66f8\u304d\u306e\u56f0\u96e3\u306a\u3069\u304c\u75c7\u4f8b\u5831\u544a\u306b\u898b\u3089\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC5517666\/\">PMC<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>2) \u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u30fb\u884c\u52d5\u9762<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09<\/strong>\u3001\u793e\u4f1a\u7684\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u8ab2\u984c\u3001\u3053\u3060\u308f\u308a\u884c\u52d5\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC5517666\/\">PMC<\/a>)<\/li>\n\n\n\n<li>\u304b\u3093\u3057\u3083\u304f\u3001\u6613\u523a\u6fc0\u6027\u3001\u81ea\u50b7\u306a\u3069\u306e\u884c\u52d5\u9762\u306e\u56f0\u308a\u3054\u3068\u304c\u4f75\u5b58\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\uff08\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\uff09\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC5517666\/\">PMC<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>3) \u53e3\u84cb\u306e\u7570\u5e38\u30fb\u6442\u98df\uff08\u54fa\u4e73\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53e3\u84cb\u88c2\uff0f\u7c98\u819c\u4e0b\u53e3\u84cb\u88c2\u3001\u53e3\u84cb\u5782\u88c2\u3001\u9f3b\u54bd\u8154\u9589\u9396\u4e0d\u5168<\/strong> \u306a\u3069\u3001\u53e3\u8154\u30fb\u54bd\u982d\u306e\u5f62\u6210\u7570\u5e38\u304c\u4e2d\u6838\u6240\u898b\u3068\u3057\u3066\u6271\u308f\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC5517666\/\">PMC<\/a>)<\/li>\n\n\n\n<li>\u4e73\u5150\u671f\u306b <strong>\u54fa\u4e73\u969c\u5bb3\u30fb\u56a5\u4e0b\u306e\u8ab2\u984c<\/strong>\u3001\u53cd\u5fa9\u3059\u308b\u4e2d\u8033\u708e\uff08\u6ef2\u51fa\u6027\u4e2d\u8033\u708e\uff09\u306a\u3069\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC5517666\/\">PMC<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>4) \u5148\u5929\u6027\u5fc3\u75be\u60a3<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\uff08ASD\uff09\uff0f\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\uff08VSD\uff09<\/strong> \u306a\u3069\u306e\u4e2d\u9694\u6b20\u640d\u304c\u3001\u81e8\u5e8a\u7279\u5fb4\u3068\u3057\u3066\u6319\u3052\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/930899\">NCBI<\/a>)<\/li>\n\n\n\n<li>\u3088\u308a\u5e83\u3044\u6b20\u5931\u3067\u306f\u3001\u5fc3\u5947\u5f62\uff08\u4f8b\uff1a\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u306a\u3069\uff09\u3092\u4f34\u3046\u75c7\u4f8b\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S1028455916000486?utm_source=chatgpt.com\">\u30b5\u30a4\u30a8\u30f3\u30b9\u30c0\u30a4\u30ec\u30af\u30c8<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>5) \u6210\u9577\u30fb\u4f53\u683c\u3001\u9854\u8c8c<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8eab\u9577\uff08short stature\uff09<\/strong>\u3001\u6210\u9577\u306e\u500b\u4eba\u5dee\u304c\u5831\u544a\u3055\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/930899\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u9854\u8c8c\u306e\u7279\u5fb4\uff08facial dysmorphism\uff09<\/strong>\uff1a\u5177\u4f53\u50cf\u306f\u75c7\u4f8b\u306b\u3088\u308a\u5e45\u304c\u3042\u308b\u3082\u306e\u306e\u3001\u300c\u7279\u5fb4\u7684\u9854\u8c8c\u300d\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b\u3068\u307e\u3068\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/930899\">NCBI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>6) \u305d\u306e\u4ed6\uff08\u7b4b\u7dca\u5f35\u30fb\u8033\u9f3b\u79d1\u9818\u57df\u306a\u3069\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08hypotonia\uff09\u304c\u81e8\u5e8a\u7279\u5fb4\u3068\u3057\u3066\u6319\u3052\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/930899\">NCBI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u8033\u306e\u5f62\u614b\u7570\u5e38\uff08\u4f4e\u4f4d\u8033\u3001\u5f8c\u65b9\u56de\u8ee2\u8033\uff09\u306a\u3069\u304cHPO\u9805\u76ee\u3068\u3057\u3066\u5217\u6319\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/930899\">NCBI<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>1) \u907a\u4f1d\u5b66\u7684\u6a5f\u5e8f\uff08\u306a\u305c\u8d77\u3053\u308b\u304b\uff09<\/strong><\/p>\n\n\n\n<p>\u539f\u56e0\u306f 15q14\u9818\u57df\u306e\u6b20\u5931\uff08\u30b3\u30d4\u30fc\u6570\u6e1b\u5c11\uff09\u3067\u3001\u6b20\u5931\u306b\u3088\u308a\u8a72\u5f53\u9818\u57df\u306e\u907a\u4f1d\u5b50\u304c <strong>1\u30b3\u30d4\u30fc\u3057\u304b\u5b58\u5728\u3057\u306a\u3044\uff08\u534a\u91cf\u4e0d\u5168\uff1ahaploinsufficiency\uff09<\/strong> \u72b6\u614b\u3068\u306a\u308b\u3053\u3068\u304c\u3001\u75c7\u72b6\u306b\u3064\u306a\u304c\u308b\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002\u7279\u306b <strong>MEIS2<\/strong> \u306e\u534a\u91cf\u4e0d\u5168\u306f\u3001\u53e3\u84cb\u30fb\u5fc3\u81d3\u30fb\u795e\u7d4c\u767a\u9054\u306b\u307e\u305f\u304c\u308b\u75c7\u72b6\u306e\u4e2d\u6838\u306b\u95a2\u4e0e\u3059\u308b\u3068\u3059\u308b\u5831\u544a\u304c\u8907\u6570\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC5517666\/\">PMC<\/a>)<\/p>\n\n\n\n<p><strong>2) \u767a\u751f\u5f62\u5f0f\uff08de novo\uff0f\u907a\u4f1d\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>de novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong>\uff1a\u4e21\u89aa\u306b\u6b20\u5931\u304c\u898b\u3064\u304b\u3089\u305a\u3001\u672c\u4eba\u306b\u65b0\u305f\u306b\u751f\u3058\u305f\u3068\u8003\u3048\u3089\u308c\u308b\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC5517666\/\">PMC<\/a>)<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u6027<\/strong>\uff1a\u5bb6\u7cfb\u5185\u3067\u4f1d\u308f\u308b\u53ef\u80fd\u6027\u3082\u7406\u8ad6\u4e0a\u3042\u308a\u5f97\u307e\u3059\u3002RareChromo\u8cc7\u6599\u3067\u306f\u3001\u89aa\u304c\u540c\u3058\u6b20\u5931\u3092\u6301\u3064\u5834\u5408\u3001\u6b21\u306e\u598a\u5a20\u3067\u5b50\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u78ba\u7387\u306f\u7406\u8ad6\u4e0a <strong>50%<\/strong> \u3068\u8aac\u660e\u3055\u308c\u3066\u3044\u307e\u3059\uff08\u305f\u3060\u3057\u8868\u73fe\u578b\u306f\u4e88\u6e2c\u56f0\u96e3\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>15q14 microdeletion syndrome \u306b\u5bfe\u3057\u3066\u3001\u6b20\u5931\u305d\u306e\u3082\u306e\u3092\u5143\u306b\u623b\u3059 <strong>\u6839\u672c\u6cbb\u7642\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093<\/strong>\u3002\u305d\u306e\u305f\u3081\u3001\u8a3a\u7642\u306e\u4e2d\u5fc3\u306f <strong>\u5408\u4f75\u75c7\u306e\u6cbb\u7642<\/strong>\u3068\u3001\u767a\u9054\u30fb\u751f\u6d3b\u306e\u8cea\u3092\u4e0a\u3052\u308b <strong>\u65e9\u671f\u652f\u63f4<\/strong>\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1) \u53e3\u84cb\u88c2\u30fb\u9f3b\u54bd\u8154\u9589\u9396\u4e0d\u5168\u3078\u306e\u5bfe\u5fdc<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u53e3\u84cb\u88c2\uff08\u7c98\u819c\u4e0b\u53e3\u84cb\u88c2\u3092\u542b\u3080\uff09\u306e\u8a55\u4fa1\uff1a\u5f62\u6210\u5916\u79d1\uff0f\u53e3\u8154\u5916\u79d1\uff0f\u8033\u9f3b\u79d1\u306e\u9023\u643a<\/li>\n\n\n\n<li>\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u5916\u79d1\u7684\u6cbb\u7642\uff08\u53e3\u84cb\u5f62\u6210\u306a\u3069\uff09\u3001\u69cb\u97f3\u8a13\u7df4<\/li>\n\n\n\n<li>\u6ef2\u51fa\u6027\u4e2d\u8033\u708e\u3084\u96e3\u8074\u8a55\u4fa1\uff1a\u8033\u9f3b\u79d1\u30d5\u30a9\u30ed\u30fc\u3001\u9f13\u819c\u30c1\u30e5\u30fc\u30d6\u306a\u3069\u9069\u5fdc\u5224\u65ad<br>\u53e3\u84cb\u306e\u554f\u984c\u306f\u8a00\u8a9e\u767a\u9054\u3084\u6442\u98df\u306b\u3082\u5f71\u97ff\u3059\u308b\u305f\u3081\u3001\u65e9\u671f\u8a55\u4fa1\u304c\u91cd\u8981\u3067\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC5517666\/\">PMC<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>2) \u5148\u5929\u6027\u5fc3\u75be\u60a3\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u30a8\u30b3\u30fc\u306a\u3069\u3067\u75c5\u578b\u3092\u78ba\u5b9a\u3057\u3001\u5c0f\u5150\u5faa\u74b0\u5668\u3067\u7d4c\u904e\u89b3\u5bdf<\/li>\n\n\n\n<li>VSD\/ASD\u306a\u3069\u306f\u81ea\u7136\u9589\u9396\u3059\u308b\u5834\u5408\u3082\u3042\u308b\u4e00\u65b9\u3001\u6cbb\u7642\u4ecb\u5165\u304c\u5fc5\u8981\u306a\u4f8b\u3082\u3042\u308b\u305f\u3081\u500b\u5225\u5224\u65ad<br>\u75c7\u4f8b\u5831\u544a\u3067\u306fVSD\u304c\u5f8c\u306b\u81ea\u7136\u9589\u9396\u3057\u305f\u4f8b\u3082\u8a18\u8f09\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC5517666\/\">PMC<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>3) \u767a\u9054\u652f\u63f4\uff08\u7642\u80b2\u30fb\u30ea\u30cf\u30d3\u30ea\u30fb\u6559\u80b2\u652f\u63f4\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5e7c\u5150\u671f\u304b\u3089\u306e\u65e9\u671f\u4ecb\u5165\uff1a\u7406\u5b66\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u8a00\u8a9e\u7642\u6cd5<\/li>\n\n\n\n<li>\u5b66\u7ae5\u671f\u4ee5\u964d\uff1a\u7279\u5225\u652f\u63f4\u6559\u80b2\u3084\u5b66\u7fd2\u652f\u63f4\u3001\u74b0\u5883\u8abf\u6574<\/li>\n\n\n\n<li>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4\uff08\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u542b\u3080\uff09<br>15q14\u6b20\u5931\u3067\u306f\u8a00\u8a9e\u30fb\u793e\u4f1a\u6027\u306e\u8ab2\u984c\u304c\u76ee\u7acb\u3064\u3053\u3068\u304c\u3042\u308a\u3001\u652f\u63f4\u306e\u52b9\u679c\u304c\u751f\u6d3b\u6a5f\u80fd\u306b\u76f4\u7d50\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC5517666\/\">PMC<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>4) ASD\/\u884c\u52d5\u9762\u3078\u306e\u5bfe\u5fdc<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u884c\u52d5\u7642\u6cd5\u3001\u30da\u30a2\u30ec\u30f3\u30c8\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\u3001\u5b66\u6821\u3068\u306e\u9023\u643a<\/li>\n\n\n\n<li>\u4f75\u5b58\u75c7\uff08\u4e0d\u5b89\u3001\u6ce8\u610f\u306e\u8ab2\u984c\u306a\u3069\uff09\u306b\u5bfe\u3057\u3066\u306f\u5150\u7ae5\u7cbe\u795e\u79d1\u30fb\u767a\u9054\u5916\u6765\u3067\u500b\u5225\u306b\u8a55\u4fa1\u3057\u3001\u5fc5\u8981\u306a\u3089\u85ac\u7269\u7642\u6cd5\u3082\u542b\u3081\u3066\u691c\u8a0e<br>ASD\u7279\u6027\u3084\u884c\u52d5\u306e\u56f0\u308a\u3054\u3068\u306f\u75c7\u4f8b\u3067\u5831\u544a\u304c\u3042\u308a\u3001\u74b0\u5883\u8abf\u6574\u304c\u91cd\u8981\u3067\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC5517666\/\">PMC<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>5) \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u7bc4\u56f2\uff08\u3069\u306e\u907a\u4f1d\u5b50\u3092\u542b\u3080\u304b\uff09\u3068\u75c7\u72b6\u306e\u95a2\u4fc2\u3001\u518d\u767a\u30ea\u30b9\u30af\u306e\u6574\u7406<\/li>\n\n\n\n<li>\u5bb6\u65cf\u5185\u691c\u67fb\u306e\u691c\u8a0e\uff08\u7279\u306b\u907a\u4f1d\u6027\u304c\u7591\u308f\u308c\u308b\u5834\u5408\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u5c06\u6765\u306e\u598a\u5a20\u30fb\u51fa\u751f\u524d\u691c\u67fb\u306b\u95a2\u3059\u308b\u60c5\u5831\u63d0\u4f9b<br>\u6b20\u5931\u306e\u5f71\u97ff\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u305f\u3081\u3001\u300c\u4e88\u5f8c\u306e\u5e45\u300d\u3092\u524d\u63d0\u306b\u3001\u5bb6\u65cf\u306e\u4e0d\u5b89\u3092\u5177\u4f53\u7684\u306b\u6e1b\u3089\u3059\u8aac\u660e\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081\uff08\u30b5\u30a4\u30c8\u5411\u3051\uff09<\/strong><\/h2>\n\n\n\n<p><strong>15q14 microdeletion syndrome<\/strong> \u306f\u300115\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e <strong>15q14\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931<\/strong>\u306b\u3088\u308a\u751f\u3058\u308b\u8d85\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002\u6b20\u5931\u7bc4\u56f2\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u3068\u304f\u306b <strong>MEIS2<\/strong> \u3092\u542b\u3080\u6b20\u5931\u3067\u306f\u3001<strong>\u53e3\u84cb\u306e\u7570\u5e38\uff08\u53e3\u84cb\u88c2\u30fb\u7c98\u819c\u4e0b\u53e3\u84cb\u88c2\u3001\u9f3b\u54bd\u8154\u9589\u9396\u4e0d\u5168\uff09<\/strong>\u3001<strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08ASD\/VSD\u306a\u3069\uff09<\/strong>\u3001<strong>\u767a\u9054\u9045\u5ef6\u30fb\u77e5\u7684\u767a\u9054\u306e\u8ab2\u984c<\/strong>\u3001\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u306a\u3069\u304c\u4e3b\u8981\u306a\u81e8\u5e8a\u50cf\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u983b\u5ea6\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u6587\u732e\u5831\u544a\u81ea\u4f53\u304c\u9650\u3089\u308c\u3066\u304a\u308a\u975e\u5e38\u306b\u7a00\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002\u6cbb\u7642\u306f\u6b20\u5931\u305d\u306e\u3082\u306e\u306e\u6839\u672c\u6cbb\u7642\u3067\u306f\u306a\u304f\u3001<strong>\u53e3\u84cb\u88c2\u3084\u5fc3\u75be\u60a3\u306e\u5c02\u9580\u7684\u7ba1\u7406<\/strong>\u3001<strong>\u7642\u80b2\u30fb\u8a00\u8a9e\u8a13\u7df4\u306a\u3069\u306e\u65e9\u671f\u652f\u63f4<\/strong>\u3001<strong>\u884c\u52d5\u9762\u3078\u306e\u652f\u63f4<\/strong>\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u652f\u6301\u7642\u6cd5\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u52a0\u3048\u3066\u3001\u6b20\u5931\u304cde novo\u306e\u5834\u5408\u3082\u907a\u4f1d\u6027\u306e\u5834\u5408\u3082\u3042\u308a\u5f97\u308b\u305f\u3081\u3001\u691c\u67fb\u7d50\u679c\u3092\u8e0f\u307e\u3048\u305f <strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong>\u304c\u91cd\u8981\u306b\u306a\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/930899\">NCBI<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>NCBI MedGen: <strong>15q14 microdeletion syndrome\uff08C4305230\uff09<\/strong> (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/930899\">NCBI<\/a>)<\/li>\n\n\n\n<li>Shimojima K, et al. <strong>A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder.<\/strong> (2017) (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC5517666\/\">PMC<\/a>)<\/li>\n\n\n\n<li>Louw JJ, et al. <strong>MEIS2 involvement in cardiac development, cleft palate, and intellectual disability.<\/strong> (2015) (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/25712757\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/li>\n\n\n\n<li>Unique \/ RareChromo.org: <strong>15q14 deletions\uff08\u60c5\u5831\u30ac\u30a4\u30c9\uff09<\/strong><\/li>\n\n\n\n<li>Chen CP, et al. <strong>Prenatal diagnosis\u2026 microdeletion in 15q14 encompassing ACTC1 and MEIS2\u2026<\/strong> (2016) (<a href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S1028455916000486?utm_source=chatgpt.com\">\u30b5\u30a4\u30a8\u30f3\u30b9\u30c0\u30a4\u30ec\u30af\u30c8<\/a>)<\/li>\n\n\n\n<li>MalaCards: <strong>Chromosome 15q14 Deletion Syndrome\uff08\u95a2\u9023\u60c5\u5831\u306e\u96c6\u7d04\uff09<\/strong> (<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q14_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem 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