{"id":17103,"date":"2026-01-21T06:38:00","date_gmt":"2026-01-21T06:38:00","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17103"},"modified":"2026-01-21T06:38:00","modified_gmt":"2026-01-21T06:38:00","slug":"6p22-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/6p22-microdeletion-syndrome\/","title":{"rendered":"6p22 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>6p22\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>6p22\u6b20\u5931\u75c7\u5019\u7fa4\uff086p22 deletion syndrome\uff09<\/li>\n\n\n\n<li>6p22\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 6p22\uff09<\/li>\n\n\n\n<li>JARID2\u95a2\u9023\u795e\u7d4c\u767a\u9054\u75c7\uff08JARID2-related neurodevelopmental disorder\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u306a\u795e\u7d4c\u75c7\u72b6\uff08\u77e5\u7684\u969c\u5bb3\u3084\u81ea\u9589\u50be\u5411\uff09\u306f\u3001\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308b<em>JARID2<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u57fa\u3065\u3044\u3066\u3053\u3046\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u4e2d\u9593\u90e86p\u6b20\u5931\uff08Interstitial 6p deletion\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b6\u756a\u67d3\u8272\u4f53\u306e\u7aef\uff08\u672b\u7aef\uff09\u3067\u306f\u306a\u304f\u3001\u9014\u4e2d\uff08\u4e2d\u9593\uff09\u304c\u6b20\u3051\u3066\u3044\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/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<p><strong>6\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0922\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e6\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306e\u4e2d\u9593\u4ed8\u8fd1\u306b\u3042\u308b\u300c22\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\uff086p22.1\u301c6p22.3\uff09\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\uff08\u30b3\u30d4\u30fc\u6570\u304c1\u3064\u306b\u306a\u308b\uff1a\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\u3011<\/p>\n\n\n\n<p>6p22\u9818\u57df\u306e\u6b20\u5931\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u6570\u767e\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u306e\u5c0f\u3055\u306a\u3082\u306e\u304b\u3089\u3001\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u306b\u53ca\u3076\u3082\u306e\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306e\u6b20\u5931\u304c\u3069\u306e\u3088\u3046\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u304b\u306f\u3001\u6b20\u5931\u7bc4\u56f2\u306b\u542b\u307e\u308c\u308b\u300c\u907a\u4f1d\u5b50\u306e\u4e2d\u8eab\u300d\u306b\u3088\u3063\u3066\u6c7a\u307e\u308a\u307e\u3059\u3002\u7279\u306b\u30016p22.3\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u5f62\u6210\u306b\u6df1\u304f\u95a2\u308f\u3063\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\uff08\u8cac\u4efb\u907a\u4f1d\u5b50\uff09\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>JARID2 (Jumonji, AT-Rich Interactive Domain 2):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u91cd\u8981\u306e\u8cac\u4efb\u907a\u4f1d\u5b50<\/strong>\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u80ce\u5150\u671f\u306e\u8133\u306e\u767a\u9054\u306b\u304a\u3044\u3066\u3001\u4ed6\u306e\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u3092\u8abf\u7bc0\u3059\u308b\u300c\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30c3\u30af\u30fb\u30ec\u30ae\u30e5\u30ec\u30fc\u30bf\u30fc\uff08\u30af\u30ed\u30de\u30c1\u30f3\u4fee\u98fe\u56e0\u5b50\uff09\u300d\u3068\u3057\u3066\u306e\u5f79\u5272\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong> <em>JARID2<\/em>\u304c\u4e0d\u8db3\u3059\u308b\u3068\u3001\u795e\u7d4c\u7d30\u80de\u306e\u5206\u5316\u3084\u56de\u8def\u5f62\u6210\u304c\u9069\u5207\u306b\u884c\u308f\u308c\u305a\u3001**\u300c\u77e5\u7684\u969c\u5bb3\u300d<strong>\u3084<\/strong>\u300c\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u300d**\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u5fc3\u81d3\u306e\u5f62\u6210\u306b\u3082\u95a2\u4e0e\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306e\u30ea\u30b9\u30af\u306b\u3082\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>DTNBP1 (Dysbindin):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u5185\u306e\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\uff08\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u3084\u30c9\u30fc\u30d1\u30df\u30f3\uff09\u306e\u653e\u51fa\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u95a2\u9023\u6027:<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u7d71\u5408\u5931\u8abf\u75c7\u306e\u30ea\u30b9\u30af\u56e0\u5b50\u3068\u3057\u3066\u7814\u7a76\u3055\u308c\u3066\u3044\u307e\u3059\u30026p22\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u3055\u3093\u306b\u304a\u3044\u3066\u3082\u3001\u8a8d\u77e5\u6a5f\u80fd\u3084\u884c\u52d5\u9762\u3078\u306e\u5f71\u97ff\uff08\u5b66\u7fd2\u969c\u5bb3\u306a\u3069\uff09\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ATXN1 (Ataxin 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u810a\u9ac4\u5c0f\u8133\u5909\u6027\u75c71\u578b\uff08SCA1\uff09\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001SCA1\u306f\u300c\u91cd\u8907\uff08\u30ea\u30d4\u30fc\u30c8\u914d\u5217\u306e\u4f38\u9577\uff09\u300d\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u3002\u6b20\u5931\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u308b\u5f71\u97ff\u306f\u5b8c\u5168\u306b\u306f\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u795e\u7d4c\u6a5f\u80fd\u306b\u95a2\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u7a00\uff08Rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u306b\u304a\u3051\u308b\u8a73\u7d30\u306a\u75c7\u4f8b\u5831\u544a\u6570\u306f\u3001\u73fe\u6642\u70b9\u3067\u6570\u5341\u4f8b\u301c\u767e\u4f8b\u7a0b\u5ea6\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u300c\u767a\u751f\u3057\u3066\u3044\u306a\u3044\u300d\u306e\u3067\u306f\u306a\u304f\u3001\u4ee5\u4e0b\u306e\u7406\u7531\u306b\u3088\u308b**\u300c\u904e\u5c11\u8a3a\u65ad\uff08Underdiagnosis\uff09\u300d**\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u7279\u5fb4\u304c\u975e\u7279\u7570\u7684:<\/strong> \u91cd\u7be4\u306a\u8eab\u4f53\u5947\u5f62\u3092\u4f34\u308f\u306a\u3044\u5834\u5408\u304c\u591a\u304f\u3001\u5358\u306a\u308b\u300c\u767a\u9054\u9045\u6ede\u300d\u3084\u300c\u81ea\u9589\u75c7\u300d\u3068\u3057\u3066\u8a3a\u65ad\u3055\u308c\u3066\u3044\u308b\u30b1\u30fc\u30b9\u306e\u4e2d\u306b\u3001\u672c\u75be\u60a3\u304c\u96a0\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u691c\u67fb\u306e\u58c1: \u4e00\u822c\u7684\u306aG\u30d0\u30f3\u30c9\u67d3\u8272\u4f53\u691c\u67fb\u3067\u306f\u898b\u9003\u3055\u308c\u308b\u5fae\u7d30\u306a\u6b20\u5931\u3067\u3042\u308a\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u3084\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u3092\u884c\u308f\u306a\u3044\u3068\u8a3a\u65ad\u3067\u304d\u307e\u305b\u3093\u3002<br>\u6027\u5225\u306b\u3088\u308b\u767a\u751f\u983b\u5ea6\u306e\u5dee\u306f\u306a\u304f\u3001\u7537\u5150\u306b\u3082\u5973\u5150\u306b\u3082\u767a\u751f\u3057\u307e\u3059\u3002<\/li>\n<\/ol>\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>6p22 microdeletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u77e5\u7684\u969c\u5bb3\u30fb\u767a\u9054\u9045\u6ede\u300d\u3068\u300c\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u300d**\u304c\u4e2d\u6838\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u306f\u6bd4\u8f03\u7684\u30de\u30a4\u30eb\u30c9\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\u3067\u3001\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u4e2d\u7b49\u5ea6\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5b66\u7fd2\u306e\u9045\u308c\u3001\u62bd\u8c61\u7684\u306a\u6982\u5ff5\u306e\u7406\u89e3\u306e\u96e3\u3057\u3055\u306a\u3069\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u7279\u306b\u9855\u8457\u306a\u7279\u5fb4<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u304c\u51fa\u59cb\u3081\u308b\u306e\u304c\u9045\u304f\uff08Speech delay\uff09\u3001\u6587\u7ae0\u3067\u306e\u4f1a\u8a71\u304c\u82e6\u624b\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7406\u89e3\u529b\uff08\u53d7\u5bb9\u8a00\u8a9e\uff09\u306b\u6bd4\u3079\u3066\u3001\u8a71\u3059\u529b\uff08\u8868\u51fa\u8a00\u8a9e\uff09\u304c\u5f31\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u958b\u59cb\u306a\u3069\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09\uff1a<\/strong> \u4e73\u5e7c\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306e\u4e00\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7279\u6027\uff08Behavioral phenotype\uff09<\/strong><\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u5c31\u5b66\u671f\u4ee5\u964d\u306e\u751f\u6d3b\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u30b1\u30a2\u306e\u30dd\u30a4\u30f3\u30c8\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u60a3\u8005\u3055\u3093\u306e\u9ad8\u3044\u5272\u5408\u3067ASD\u306e\u7279\u6027\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u793e\u4f1a\u6027:<\/strong> \u8996\u7dda\u304c\u5408\u3044\u306b\u304f\u3044\u3001\u540c\u5e74\u4ee3\u306e\u5b50\u3068\u306e\u95a2\u308f\u308a\u304c\u82e6\u624b\u3001\u7a7a\u6c17\u304c\u8aad\u3081\u306a\u3044\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u3053\u3060\u308f\u308a:<\/strong> \u7279\u5b9a\u306e\u7269\u4e8b\u3078\u306e\u5f37\u3044\u8208\u5473\u3001\u624b\u9806\u3078\u306e\u3053\u3060\u308f\u308a\u3001\u5909\u5316\u3078\u306e\u62b5\u6297\u611f\u3002<\/li>\n\n\n\n<li><strong>\u611f\u899a\u904e\u654f:<\/strong> \u97f3\u3084\u89e6\u899a\u306b\u5bfe\u3059\u308b\u904e\u654f\u3055\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u884c\u52d5\u7279\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u69d8\u306e\u75c7\u72b6\uff08\u843d\u3061\u7740\u304d\u306e\u306a\u3055\u3001\u4e0d\u6ce8\u610f\uff09\u3002<\/li>\n\n\n\n<li>\u4e0d\u5b89\u306e\u5f37\u3055\u3001\u304b\u3093\u3057\u3083\u304f\u3001\u653b\u6483\u7684\u306a\u884c\u52d5\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u300c\u7279\u7570\u7684\u300d\u3068\u3044\u3046\u307b\u3069\u76ee\u7acb\u3064\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u3044\u304f\u3064\u304b\u306e\u5171\u901a\u3057\u305f\u7279\u5fb4\uff08Dysmorphism\uff09\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u77ed\u3044\u9f3b\u3001\u9f3b\u5b54\u304c\u4e0a\u3092\u5411\u3044\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li>\u6df1\u304f\u304f\u307c\u3093\u3060\u76ee\uff08Deep-set eyes\uff09\u3001\u773c\u77bc\u88c2\uff08\u76ee\u306e\u6a2a\u5e45\uff09\u304c\u77ed\u3044\u3002<\/li>\n\n\n\n<li>\u9ad8\u3044\u30a2\u30fc\u30c1\u72b6\u306e\u53e3\u84cb\uff08\u53e3\u306e\u5929\u4e95\u304c\u9ad8\u3044\uff09\u3002<\/li>\n\n\n\n<li>\u5927\u304d\u306a\u8033\u3001\u8033\u4ecb\u306e\u5909\u5f62\u3002<\/li>\n\n\n\n<li>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09\u307e\u305f\u306f\u5927\u982d\u75c7\uff08Macrocephaly\uff09\u306e\u3069\u3061\u3089\u3082\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u4e00\u5b9a\u3057\u3066\u3044\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u659c\u8996\u3001\u5c48\u6298\u7570\u5e38\uff08\u9060\u8996\u30fb\u8fd1\u8996\u30fb\u4e71\u8996\uff09\u304c\u9ad8\u983b\u5ea6\u3067\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u3084\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09\u306a\u3069\u306e\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08\u7d0415\u301c20%\u7a0b\u5ea6\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9aa8\u683c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u8db3\u306e\u6307\u304c\u77ed\u3044\uff08\u77ed\u6307\u75c7\uff09\u3001\u7b2c5\u6307\u306e\u6e7e\u66f2\u306a\u3069\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u814e\u30fb\u6ccc\u5c3f\u5668:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u814e\u81d3\u306e\u5f62\u614b\u7570\u5e38\u306a\u3069\uff08\u7a00\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>6\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff086p22\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>6p22\u6b20\u5931\u75c7\u5019\u7fa4\u306e<strong>\u5927\u591a\u6570<\/strong>\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\uff08\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6642\u3001\u307e\u305f\u306f\u53d7\u7cbe\u76f4\u5f8c\uff09\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306e\u5e74\u9f62\u3084\u598a\u5a20\u4e2d\u306e\u74b0\u5883\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u975e\u5e38\u306b\u4f4e\u3044\uff08\u4e00\u822c\u96c6\u56e3\u3068\u540c\u7a0b\u5ea6\uff09\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u7a00\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\uff09\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3001\u4e0d\u5747\u8861\u306a\u6b20\u5931\u3068\u3057\u3066\u907a\u4f1d\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08JARID2\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>JARID2\u907a\u4f1d\u5b50<\/strong>\u306f\u3001\u8133\u306e\u767a\u9054\u6bb5\u968e\u306b\u304a\u3044\u3066\u300c\u3069\u306e\u907a\u4f1d\u5b50\u3092\u3044\u3064\u50cd\u304b\u305b\u308b\u304b\u300d\u3092\u6307\u63ee\u3059\u308b\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u304c\u7247\u65b9\u6b20\u3051\u3066\u91cf\u304c\u534a\u5206\u306b\u306a\u308b\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3068\u3001\u6307\u63ee\u7cfb\u7d71\u304c\u4e71\u308c\u3001\u795e\u7d4c\u7d30\u80de\u304c\u6b63\u3057\u304f\u6210\u719f\u3067\u304d\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u304c\u3001\u77e5\u7684\u969c\u5bb3\u3084\u81ea\u9589\u75c7\u306e\u6839\u672c\u7684\u306a\u539f\u56e0\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u307e\u305f\u3001<em>JARID2<\/em>\u306f\u7d71\u5408\u5931\u8abf\u75c7\u306e\u30ea\u30b9\u30af\u907a\u4f1d\u5b50\u3068\u306e\u95a2\u9023\u3082\u793a\u5506\u3055\u308c\u3066\u304a\u308a\u3001\u5c06\u6765\u7684\u306a\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9\u306b\u3082\u7559\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u300c\u767a\u9054\u9045\u6ede\u300d\u300c\u81ea\u9589\u50be\u5411\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u304c\u3042\u308a\u3001\u4e00\u822c\u7684\u306a\u691c\u67fb\u3067\u539f\u56e0\u304c\u5206\u304b\u3089\u306a\u3044\u5834\u5408\u306b\u7591\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b**\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff08\u7b2c\u4e00\u9078\u629e\uff09**\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>6p22\u9818\u57df\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\uff08bp\u5358\u4f4d\uff09\u3068\u3001<em>JARID2<\/em>\u907a\u4f1d\u5b50\u306a\u3069\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f93\u6765\u306eG\u30d0\u30f3\u30c9\u691c\u67fb\uff08\u9855\u5fae\u93e1\u691c\u67fb\uff09\u3067\u306f\u3001\u6b20\u5931\u304c\u5c0f\u3055\u3059\u304e\u308b\u5834\u5408\u306b\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001CMA\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09 \/ \u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u6b20\u5931\u3067\u306f\u306a\u304f\u3001<em>JARID2<\/em>\u907a\u4f1d\u5b50\u306e\u4e2d\u306e\u70b9\u5909\u7570\u3067\u3082\u4f3c\u305f\u75c7\u72b6\u304c\u51fa\u308b\u305f\u3081\u3001CMA\u3067\u7570\u5e38\u304c\u306a\u304b\u3063\u305f\u5834\u5408\u306b\u3053\u308c\u3089\u306e\u691c\u67fb\u3067\u8a3a\u65ad\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6b20\u5931\u3057\u305f\u67d3\u8272\u4f53\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u751f\u6d3b\u80fd\u529b\u3092\u5411\u4e0a\u3055\u305b\u308b\u305f\u3081\u306e**\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09**\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4\uff08\u6700\u91cd\u8981\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u5f8c\u3001\u65e9\u671f\u304b\u3089\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u304c\u9855\u8457\u306a\u305f\u3081\u3001\u500b\u3005\u306e\u7406\u89e3\u5ea6\u306b\u5408\u308f\u305b\u305f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7d75\u30ab\u30fc\u30c9\uff08PECS\uff09\u3084\u30b5\u30a4\u30f3\u306a\u3069\u306e**AAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09**\u3092\u6d3b\u7528\u3057\u3001\u300c\u4f1d\u3048\u305f\u3044\u300d\u3068\u3044\u3046\u610f\u6b32\u3092\u5f15\u304d\u51fa\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SST\uff08\u30bd\u30fc\u30b7\u30e3\u30eb\u30b9\u30ad\u30eb\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>ASD\u7279\u6027\u306b\u5bfe\u3057\u3001\u5bfe\u4eba\u95a2\u4fc2\u306e\u30b9\u30ad\u30eb\u3084\u3001\u96c6\u56e3\u751f\u6d3b\u3067\u306e\u30eb\u30fc\u30eb\u3092\u5177\u4f53\u7684\u306b\u5b66\u3073\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u898b\u901a\u3057\u306e\u7acb\u3064\u74b0\u5883\u4f5c\u308a\uff08\u69cb\u9020\u5316\uff09\u3082\u6709\u52b9\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6559\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u3084\u884c\u52d5\u7279\u6027\u306b\u5408\u308f\u305b\u3001\u7279\u5225\u652f\u63f4\u5b66\u6821\u3084\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u3001\u9069\u5207\u306a\u6559\u80b2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5408\u4f75\u75c7\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u659c\u8996\u3084\u5c48\u6298\u7570\u5e38\u306b\u5bfe\u3057\u3001\u773c\u93e1\u88c5\u7528\u3084\u30a2\u30a4\u30d1\u30c3\u30c1\u306a\u3069\u306e\u6cbb\u7642\u3092\u884c\u3044\u3001\u8996\u899a\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5faa\u74b0\u5668:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u3001\u5b9a\u671f\u7684\u306a\u7d4c\u904e\u89b3\u5bdf\u3084\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u307e\u308c\u306b\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5bb6\u65cf\u652f\u63f4\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u60c5\u5831\u306e\u6574\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308a\u3001\u65e5\u672c\u8a9e\u306e\u60c5\u5831\u304c\u5c11\u306a\u3044\u305f\u3081\u3001\u3054\u5bb6\u65cf\u306f\u4e0d\u5b89\u3092\u611f\u3058\u3084\u3059\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u304b\u3089\u3001\u75be\u60a3\u306e\u7279\u6027\u3084\u9577\u671f\u7684\u306a\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u8aac\u660e\u3092\u53d7\u3051\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3092\u884c\u3044\u3001\u5bb6\u65cf\u6027\u3067\u306a\u3044\u3053\u3068\u304c\u78ba\u8a8d\u3067\u304d\u308c\u3070\u3001\u6b21\u5b50\u306e\u30ea\u30b9\u30af\u306f\u4f4e\u3044\u3053\u3068\u3092\u4f1d\u3048\u3001\u5fc3\u7406\u7684\u306a\u8ca0\u62c5\u3092\u8efd\u6e1b\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>6p22 microdeletion syndrome\u306f\u30016\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5fae\u7d30\u306b\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u304a\u5b50\u3055\u3093\u306f\u3001\u8a00\u8449\u3092\u8a71\u3057\u59cb\u3081\u308b\u306e\u304c\u3086\u3063\u304f\u308a\u3060\u3063\u305f\u308a\u3001\u540c\u5e74\u4ee3\u306e\u304a\u53cb\u9054\u3068\u306e\u95a2\u308f\u308a\u304c\u5c11\u3057\u82e6\u624b\u3060\u3063\u305f\u308a\u3059\u308b\u7279\u5fb4\uff08\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u306a\u3069\uff09\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u304a\u9854\u7acb\u3061\u306b\u5c11\u3057\u7279\u5fb4\u304c\u3042\u3063\u305f\u308a\u3001\u76ee\u304c\u659c\u8996\u306b\u306a\u308a\u3084\u3059\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u300c\u767a\u9054\u306e\u9045\u308c\u300d\u3084\u300c\u81ea\u9589\u75c7\u300d\u3068\u3044\u3046\u8a3a\u65ad\u306f\u3001\u5c06\u6765\u3078\u306e\u5927\u304d\u306a\u4e0d\u5b89\u6750\u6599\u306b\u306a\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\uff08JARID2\u907a\u4f1d\u5b50\u306a\u3069\uff09\u304c\u5206\u304b\u3063\u305f\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u300c\u82e6\u624b\u3055\u300d\u306e\u7406\u7531\u304c\u660e\u78ba\u306b\u306a\u308a\u307e\u3057\u305f\u3002\u3053\u308c\u306f\u3001\u300c\u3057\u3064\u3051\u306e\u554f\u984c\u300d\u3084\u300c\u80b2\u3066\u65b9\u306e\u305b\u3044\u300d\u3067\u306f\u306a\u304f\u3001\u751f\u307e\u308c\u3064\u304d\u306e\u8133\u306e\u7279\u6027\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7406\u7531\u304c\u5206\u304b\u308c\u3070\u3001\u5bfe\u7b56\u304c\u7acb\u3066\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8996\u899a\u7684\u306a\u652f\u63f4\u3092\u884c\u3063\u305f\u308a\u3001\u8a00\u8449\u306e\u6559\u5ba4\u306b\u901a\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306f\u305d\u306e\u5b50\u306a\u308a\u306e\u30da\u30fc\u30b9\u3067\u7740\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5fc3\u81d3\u306e\u75c5\u6c17\u306a\u3069\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u5834\u5408\u306f\u533b\u7642\u7684\u306a\u7ba1\u7406\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u3067\u304d\u306a\u3044\u3053\u3068\u300d\u3067\u306f\u306a\u304f\u3001\u300c\u5f97\u610f\u306a\u3053\u3068\u300d\u3084\u300c\u597d\u304d\u306a\u3053\u3068\u300d\u306b\u76ee\u3092\u5411\u3051\u3001\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3084\u5b66\u6821\u306e\u5148\u751f\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u3093\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u500b\u6027\u8c4a\u304b\u306a\u6210\u9577\u3092\u6e29\u304b\u304f\u652f\u3048\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Masurel-Paulet, A., et al.<\/strong> (2011). <em>A new microdeletion syndrome at 6p22.3 associated with developmental delay and distinct facial features.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b6p22.3\u9818\u57df\u306e\u6b20\u5931\u3092\u6301\u3064\u60a3\u8005\u306e\u8a73\u7d30\u306a\u81e8\u5e8a\u75c7\u72b6\u3092\u5831\u544a\u3057\u3001\u65b0\u305f\u306a\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u3057\u3066\u63d0\u5531\u3057\u305f\u8ad6\u6587\u3002JARID2\u907a\u4f1d\u5b50\u306e\u91cd\u8981\u6027\u306b\u3064\u3044\u3066\u8a00\u53ca\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Vissers, L.E., et al.<\/strong> (2010). <em>Rare de novo microcopy number variations in a cohort of patients with intellectual disability.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u77e5\u7684\u969c\u5bb3\u60a3\u8005\u306e\u30b3\u30db\u30fc\u30c8\u89e3\u6790\u306b\u304a\u3044\u3066\u3001JARID2\u3092\u542b\u30806p22\u6b20\u5931\u3092\u540c\u5b9a\u3057\u3001\u305d\u306e\u75c5\u539f\u6027\u3092\u8a3c\u660e\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>6p deletions<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u30016p\u6b20\u5931\u5168\u822c\uff08\u4e2d\u9593\u6b20\u5931\u542b\u3080\uff09\u306e\u7279\u5fb4\u3001\u767a\u9054\u306e\u76ee\u5b89\u3001\u7642\u80b2\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u306a\u3069\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Celestino-Soper, P.B., et al.<\/strong> (2012). <em>Haploinsufficiency of JARID2 causes a spectrum of neurodevelopmental phenotypes.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bJARID2\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3084\u5909\u7570\u304c\u3001\u77e5\u7684\u969c\u5bb3\u3084ASD\u3092\u542b\u3080\u5e45\u5e83\u3044\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u306e\u539f\u56e0\u3068\u306a\u308b\u3053\u3068\u3092\u793a\u3057\u305f\u91cd\u8981\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Pedrosa, E., et al.<\/strong> (2010). <em>Development of patient-specific neurons in schizophrenia using induced pluripotent stem cells.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b6p22.1\u9818\u57df\uff08DTNBP1\u306a\u3069\uff09\u3068\u7cbe\u795e\u75be\u60a3\u30ea\u30b9\u30af\u306e\u95a2\u9023\u306b\u3064\u3044\u3066\u306e\u57fa\u790e\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-17103","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\/17103","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\/17103\/revisions"}],"predecessor-version":[{"id":17105,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17103\/revisions\/17105"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17103"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}