{"id":16798,"date":"2026-01-20T04:48:57","date_gmt":"2026-01-20T04:48:57","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16798"},"modified":"2026-01-20T05:37:20","modified_gmt":"2026-01-20T05:37:20","slug":"1q44-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/1q44-microdeletion-syndrome\/","title":{"rendered":"1q44 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>1q44\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>1q44\u6b20\u5931\u75c7\u5019\u7fa4\uff081q44 deletion syndrome\uff09<\/li>\n\n\n\n<li>1q44\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 1q44\uff09<\/li>\n\n\n\n<li>1\u756a\u67d3\u8272\u4f53\u9577\u8155\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\uff08Deletion 1qter \/ Terminal 1q deletion\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u8133\u6881\u6b20\u640d\u75c7\uff08Agenesis of the corpus callosum; ACC\uff09\u203b\u4e3b\u8981\u306a\u5408\u4f75\u75c7\u3068\u3057\u3066<\/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>1\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0944\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e1\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u6700\u3082\u672b\u7aef\uff08\u30c6\u30ed\u30e1\u30a2\u5074\uff09\u306b\u4f4d\u7f6e\u3059\u308b\u300c44\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\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\u91cd\u8981\u9818\u57df\u3011<\/p>\n\n\n\n<p>1\u756a\u67d3\u8272\u4f53\u306f\u30d2\u30c8\u306e\u67d3\u8272\u4f53\u306e\u4e2d\u3067\u6700\u3082\u5927\u304d\u304f\u3001\u591a\u304f\u306e\u907a\u4f1d\u5b50\u3092\u542b\u3093\u3067\u3044\u307e\u3059\u304c\u3001\u305d\u306e\u6700\u672b\u7aef\u3067\u3042\u308b\u300c1q43-q44\u9818\u57df\u300d\u306f\u3001\u8133\u306e\u767a\u9054\u306b\u3068\u3063\u3066\u6975\u3081\u3066\u91cd\u8981\u306a\u300c\u91cd\u8981\u9818\u57df\uff08Critical Region\uff09\u300d\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b20\u5931\u306e\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\u30016\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u3092\u8d85\u3048\u308b\u5927\u304d\u306a\u3082\u306e\u307e\u3067\u69d8\u3005\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u8fd1\u5e74\u306e\u7814\u7a76\u306b\u3088\u308a\u3001\u4ee5\u4e0b\u306e3\u3064\u306e\u907a\u4f1d\u5b50\u304c\u75c7\u72b6\u5f62\u6210\u306b\u304a\u3044\u3066\u4e2d\u5fc3\u7684\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u7279\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>AKT3 (AKT Serine\/Threonine Kinase 3):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7d30\u80de\u306e\u6210\u9577\u3084\u751f\u5b58\u3001\u4ee3\u8b1d\u3092\u8abf\u6574\u3059\u308b\u300cmTOR\u7d4c\u8def\u300d\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u306e\u30b5\u30a4\u30ba\u3092\u6c7a\u5b9a\u3059\u308b\u5f79\u5272\u3092\u6301\u3063\u3066\u304a\u308a\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306f**\u300c\u5c0f\u982d\u75c7\uff08Microcephaly\uff09\u300d**\u306e\u76f4\u63a5\u7684\u306a\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ZBTB18 (Zinc Finger and BTB Domain Containing 18):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u65e7\u540d\u306f<em>ZNF238<\/em>\u3067\u3059\u3002\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306e\u5206\u5316\u3084\u79fb\u52d5\u306b\u95a2\u308f\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306f\u3001**\u300c\u8133\u6881\u306e\u5f62\u6210\u7570\u5e38\uff08\u8133\u6881\u6b20\u640d\u30fb\u4f4e\u5f62\u6210\uff09\u300d**\u3084\u3001\u77e5\u7684\u969c\u5bb3\u306e\u91cd\u75c7\u5ea6\u3068\u5f37\u304f\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>HNRNPU (Heterogeneous Nuclear Ribonucleoprotein U):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8fd1\u5e74\u6ce8\u76ee\u3055\u308c\u3066\u3044\u308b\u907a\u4f1d\u5b50\u3067\u3001RNA\u306e\u51e6\u7406\u306b\u95a2\u308f\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306f\u3001**\u300c\u3066\u3093\u304b\u3093\u300d<strong>\u3084<\/strong>\u300c\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u300d**\u306e\u4e3b\u8981\u306a\u539f\u56e0\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u3064\u307e\u308a\u30011q44\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u5358\u306b\u300c\u67d3\u8272\u4f53\u306e\u7aef\u3063\u3053\u304c\u306a\u3044\u300d\u3068\u3044\u3046\u3060\u3051\u3067\u306a\u304f\u3001\u3053\u308c\u3089\u306e\u91cd\u8981\u306a\u8133\u5f62\u6210\u907a\u4f1d\u5b50\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u8d77\u3053\u308b**\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d**\u3068\u3057\u3066\u306e\u5074\u9762\u3092\u6301\u3063\u3066\u3044\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><strong>\u975e\u5e38\u306b\u7a00\uff08Very Rare\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\u3067\u306e\u5831\u544a\u6570\u306f\u6570\u767e\u4f8b\u7a0b\u5ea6\u3067\u3059\u304c\u3001\u3053\u308c\u306f\u300c\u8a3a\u65ad\u304c\u3064\u3044\u305f\u75c7\u4f8b\u300d\u306b\u9650\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5f93\u6765\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u306f\u3001\u6b20\u5931\u304c\u5fae\u7d30\u306a\u5834\u5408\uff08microdeletion\uff09\u306f\u898b\u9003\u3055\u308c\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3057\u305f\u3002\u8fd1\u5e74\u306e\u300c\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u300d\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u539f\u56e0\u4e0d\u660e\u306e\u5c0f\u982d\u75c7\u3084\u3066\u3093\u304b\u3093\u3001\u767a\u9054\u9045\u6ede\u3068\u3055\u308c\u3066\u3044\u305f\u60a3\u8005\u3055\u3093\u306e\u4e2d\u304b\u3089\u65b0\u305f\u306b\u767a\u898b\u3055\u308c\u308b\u30b1\u30fc\u30b9\u304c\u5897\u3048\u3066\u304a\u308a\u3001\u5b9f\u969b\u306e\u983b\u5ea6\u306f\u5831\u544a\u6570\u3088\u308a\u3082\u591a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\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>1q44 microdeletion syndrome\u306e\u75c7\u72b6\u306f\u3001\u6b20\u5931\u306e\u7bc4\u56f2\u3084\u3001\u3069\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u306b\u3088\u3063\u3066\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001**\u300c\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u7570\u5e38\u300d\u300c\u767a\u9054\u306e\u9045\u308c\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d**\u306e3\u3064\u304c\u4e2d\u6838\u7684\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u5f62\u6210\u7570\u5e38\u30fb\u795e\u7d4c\u75c7\u72b6<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u3067\u6700\u3082\u6df1\u523b\u304b\u3064\u9ad8\u983b\u5ea6\u306b\u898b\u3089\u308c\u308b\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u60a3\u8005\u3055\u3093\u306e\u7d0490%\u4ee5\u4e0a\u306b\u898b\u3089\u308c\u308b\u3001\u975e\u5e38\u306b\u983b\u5ea6\u306e\u9ad8\u3044\u75c7\u72b6\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u51fa\u751f\u6642\u304b\u3089\u982d\u56f2\u304c\u5c0f\u3055\u3044\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u982d\u56f2\u306e\u4f38\u3073\u304c\u60aa\u304f\u306a\u308b\uff08\u9032\u884c\u6027\uff09\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f<em>AKT3<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3068\u5f37\u304f\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8133\u6881\u306e\u7570\u5e38\uff08Corpus callosum anomalies\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u6881\u306f\u3001\u53f3\u8133\u3068\u5de6\u8133\u3092\u3064\u306a\u3044\u3067\u60c5\u5831\u3092\u3084\u308a\u53d6\u308a\u3059\u308b\u592a\u3044\u795e\u7d4c\u306e\u675f\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u672c\u75c7\u5019\u7fa4\u306e\u7d04\u534a\u6570\u4ee5\u4e0a\u306b\u3001\u8133\u6881\u304c\u5168\u304f\u306a\u3044\uff08\u6b20\u640d\uff09\u3001\u3042\u308b\u3044\u306f\u8584\u3044\u30fb\u77ed\u3044\uff08\u4f4e\u5f62\u6210\uff09\u3068\u3044\u3063\u305f\u7570\u5e38\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u306f<em>ZBTB18<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3068\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\uff08Seizures\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u60a3\u8005\u3055\u3093\u306e\u591a\u304f\uff08\u7d0480%\u4ee5\u4e0a\uff09\u3067\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u767a\u75c7\u6642\u671f\u306f\u4e73\u5150\u671f\u304b\u3089\u5c0f\u5150\u671f\u304c\u591a\u304f\u3001\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u306f\u591a\u69d8\uff08\u5168\u822c\u767a\u4f5c\u3001\u90e8\u5206\u767a\u4f5c\u3001\u70b9\u982d\u3066\u3093\u304b\u3093\u306a\u3069\uff09\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3067\u304d\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u96e3\u6cbb\u6027\u3068\u306a\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u3001<em>HNRNPU<\/em>\u907a\u4f1d\u5b50\u306e\u95a2\u4e0e\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5e7c\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u3050\u306b\u3083\u3050\u306b\u3083\u3057\u3066\u3044\u308b\u72b6\u614b\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\u3067\u3001\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7cbe\u795e\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\u904b\u52d5\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u5927\u5e45\u306b\u9045\u308c\u307e\u3059\u3002\u6b69\u884c\u7372\u5f97\u304c\u6570\u6b73\u4ee5\u964d\u306b\u306a\u308b\u3053\u3068\u3082\u3001\u6b69\u884c\u304c\u56f0\u96e3\u306a\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u3067\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u8457\u3057\u3044\u9045\u308c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u304c\u51fa\u306a\u3044\uff08Non-verbal\uff09\u5834\u5408\u3084\u3001\u6570\u8a9e\u306e\u5358\u8a9e\u306e\u307f\u306e\u5834\u5408\u304c\u591a\u304f\u3001\u8a00\u8a9e\u306b\u3088\u308b\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u56f0\u96e3\u306a\u30b1\u30fc\u30b9\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u7406\u89e3\u529b\u306f\u8868\u51fa\u529b\u3088\u308a\u3082\u4fdd\u305f\u308c\u3066\u3044\u308b\u3053\u3068\u304c\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>\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5316\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u5171\u901a\u3057\u305f\u9854\u3064\u304d\u306e\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>\u5e83\u3044\u524d\u982d\u90e8\uff08\u304a\u3067\u3053\u304c\u5e83\u3044\uff09\u3001\u3042\u308b\u3044\u306f\u5c0f\u982d\u75c7\u306b\u4f34\u3046\u50be\u659c\u3057\u305f\u984d<\/li>\n\n\n\n<li>\u7709\u6bdb\u306e\u7570\u5e38\uff08\u8584\u3044\u3001\u307e\u305f\u306f\u6fc3\u3044\uff09<\/li>\n\n\n\n<li>\u5e73\u5766\u306a\u9f3b\u6839\u90e8\uff08\u76ee\u3068\u76ee\u306e\u9593\u304c\u4f4e\u3044\uff09<\/li>\n\n\n\n<li>\u77ed\u3044\u9f3b\u3001\u4e0a\u5411\u304d\u306e\u9f3b\u5b54<\/li>\n\n\n\n<li>\u8584\u3044\u4e0a\u5507\uff08\u7279\u306b\u8d64\u5507\u90e8\u304c\u8584\u3044\uff09<\/li>\n\n\n\n<li>\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\u306e\u6e9d\uff09\u304c\u9577\u3044\u3001\u307e\u305f\u306f\u5e73\u5766<\/li>\n\n\n\n<li>\u5c0f\u984e\u75c7\uff08\u3042\u3054\u304c\u5c0f\u3055\u3044\uff09<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u306e\u5f62\u306e\u5909\u5f62<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u6210\u9577\u30fb\u9aa8\u683c\u30fb\u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u969c\u5bb3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u6642\u306f\u6b63\u5e38\u4f53\u91cd\u3067\u3082\u3001\u51fa\u751f\u5f8c\u306b\u8eab\u9577\u30fb\u4f53\u91cd\u306e\u4f38\u3073\u304c\u60aa\u304f\u306a\u308a\u3001\u4f4e\u8eab\u9577\uff08Short stature\uff09\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\uff08Failure to thrive\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u624b\u8db3\u306e\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u3055\u306a\u624b\u8db3\u3001\u6307\u306e\u77ed\u7e2e\u3001\u7b2c5\u6307\u306e\u6e7e\u66f2\uff08\u5185\u6e7e\u6307\uff09\u3001\u591a\u6307\u75c7\u306a\u3069\u304c\u7a00\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u5185\u81d3\u5947\u5f62:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069\uff09\u3001\u814e\u30fb\u6ccc\u5c3f\u5668\u7cfb\u306e\u7570\u5e38\uff08\u6c34\u814e\u75c7\u306a\u3069\uff09\u3001\u505c\u7559\u7cbe\u5de3\uff08\u7537\u5150\uff09\u306a\u3069\u304c\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u983b\u5ea6\u306f\u795e\u7d4c\u75c7\u72b6\u306b\u6bd4\u3079\u308b\u3068\u4f4e\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6442\u98df\u969c\u5bb3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5e7c\u5150\u671f\u306e\u54fa\u4e73\u56f0\u96e3\u3001\u56a5\u4e0b\u969c\u5bb3\u3001\u80c3\u98df\u9053\u9006\u6d41\u306a\u3069\u304c\u3088\u304f\u898b\u3089\u308c\u3001\u7d4c\u7ba1\u6804\u990a\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\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>1\u756a\u67d3\u8272\u4f53\u9577\u8155\u672b\u7aef\uff081q44\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:<\/strong>\n<ul class=\"wp-block-list\">\n<li>1q44\u5fae\u7d30\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>\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\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u89aa\u306e\u8ee2\u5ea7\u306a\u3069\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7a00\u306b\u3001\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u304c\u91cf\u306f\u6b63\u5e38\uff09\u300d\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u8ee2\u5ea7\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u6e1b\u6570\u5206\u88c2\u306e\u969b\u306b\u4e0d\u5747\u8861\u304c\u751f\u3058\u3001\u5b50\u4f9b\u306b\u6b20\u5931\uff08\u304a\u3088\u3073\u4ed6\u306e\u67d3\u8272\u4f53\u306e\u91cd\u8907\uff09\u304c\u907a\u4f1d\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u5834\u5408\u306f\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5b50\u578b\u3068\u8868\u73fe\u578b\u306e\u76f8\u95a2\uff08Genotype-Phenotype Correlation\uff09<\/strong><\/p>\n\n\n\n<p>1q44\u9818\u57df\u306e\u6b20\u5931\u306f\u3001\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u75c7\u72b6\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>AKT3\u306e\u307f\u6b20\u5931:<\/strong> \u5c0f\u982d\u75c7\u306f\u3042\u308b\u304c\u3001\u8133\u6881\u306f\u6b63\u5e38\u306a\u5834\u5408\u304c\u3042\u308b\u3002<\/li>\n\n\n\n<li><strong>ZBTB18\u306e\u307f\u6b20\u5931:<\/strong> \u8133\u6881\u6b20\u640d\u3084\u77e5\u7684\u969c\u5bb3\u304c\u9855\u8457\u3002<\/li>\n\n\n\n<li><strong>HNRNPU\u306e\u307f\u6b20\u5931:<\/strong> \u3066\u3093\u304b\u3093\u3084\u77e5\u7684\u969c\u5bb3\u304c\u9855\u8457\u3060\u304c\u3001\u8133\u6881\u306f\u6b63\u5e38\u306a\u5834\u5408\u304c\u3042\u308b\u3002<\/li>\n\n\n\n<li><strong>\u3059\u3079\u3066\u6b20\u5931\uff08\u5178\u578b\u7684\u306a1q44\u6b20\u5931\uff09:<\/strong> \u4e0a\u8a18\u3059\u3079\u3066\u306e\u75c7\u72b6\uff08\u5c0f\u982d\u75c7\uff0b\u8133\u6881\u6b20\u640d\uff0b\u3066\u3093\u304b\u3093\uff0b\u91cd\u5ea6\u77e5\u7684\u969c\u5bb3\uff09\u304c\u5408\u4f75\u3059\u308b\u91cd\u75c7\u578b\u3068\u306a\u308a\u307e\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\u5c0f\u982d\u75c7\u300d\u300c\u3066\u3093\u304b\u3093\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u304c\u3042\u308a\u3001MRI\u3067\u300c\u8133\u6881\u306e\u7570\u5e38\u300d\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u306b\u5f37\u304f\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:<\/strong>\n<ul class=\"wp-block-list\">\n<li>1q44\u9818\u57df\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3092\u691c\u51fa\u3059\u308b\u305f\u3081\u306e**\u7b2c\u4e00\u9078\u629e\uff08\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff09**\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5f93\u6765\u306eG\u30d0\u30f3\u30c9\u691c\u67fb\uff08\u9855\u5fae\u93e1\u3067\u306e\u89b3\u5bdf\uff09\u3067\u306f\u3001\u6b20\u5931\u304c\u5c0f\u3055\u3059\u304e\u308b\u5834\u5408\u306b\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3057\u305f\u304c\u3001CMA\u3067\u306f\u907a\u4f1d\u5b50\u30ec\u30d9\u30eb\u3067\u306e\u6b20\u5931\u7bc4\u56f2\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u982d\u90e8MRI\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u6881\u306e\u6b20\u640d\u3084\u4f4e\u5f62\u6210\u3001\u5927\u8133\u76ae\u8cea\u306e\u5f62\u6210\u7570\u5e38\u306a\u3069\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u5fc5\u9808\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8133\u6ce2\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u3092\u8a3a\u65ad\u3057\u3001\u6cbb\u7642\u65b9\u91dd\u3092\u6c7a\u3081\u308b\u305f\u3081\u306b\u884c\u308f\u308c\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\u907a\u4f1d\u5b50\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3001\u73fe\u6642\u70b9\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u9ad8\u3081\u308b\u305f\u3081\u306e\u5305\u62ec\u7684\u306a\u7642\u80b2\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u3066\u3093\u304b\u3093\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u85ac\u7269\u7642\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u767a\u4f5c\u306b\u5bfe\u3057\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u96e3\u6cbb\u6027\u306e\u5834\u5408\u304c\u591a\u3044\u305f\u3081\u3001\u8907\u6570\u306e\u85ac\u5264\u306e\u8abf\u6574\u3084\u3001\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\u306a\u3069\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u306f\u3001\u8133\u306e\u767a\u9054\u3092\u5b88\u308b\u305f\u3081\u306b\u3082\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2\uff08Early Intervention\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u5f8c\u3001\u3067\u304d\u308b\u3060\u3051\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>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u904b\u52d5\u767a\u9054\u9045\u6ede\u306b\u5bfe\u3057\u3001\u5ea7\u4f4d\u4fdd\u6301\u3084\u7acb\u4f4d\u3001\u6b69\u884c\u306b\u5411\u3051\u305f\u8a13\u7df4\u3092\u884c\u3044\u307e\u3059\u3002\u88c5\u5177\u3084\u8eca\u6905\u5b50\u306a\u3069\u306e\u88dc\u52a9\u5177\u306e\u9078\u5b9a\u3082\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6442\u98df\u30fb\u56a5\u4e0b\u6307\u5c0e:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u54fa\u4e73\u969c\u5bb3\u3084\u56a5\u4e0b\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u3001\u5b89\u5168\u306a\u98df\u4e8b\u5f62\u614b\u306e\u6307\u5c0e\u3084\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u7d4c\u7ba1\u6804\u990a\uff08\u9f3b\u30c1\u30e5\u30fc\u30d6\u3084\u80c3\u308d\u3046\uff09\u306e\u7ba1\u7406\u3092\u884c\u3044\u307e\u3059\u3002\u5341\u5206\u306a\u6804\u990a\u6442\u53d6\u306f\u3001\u8133\u3068\u4f53\u306e\u6210\u9577\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8a9e\u767a\u9054\u304c\u9045\u308c\u308b\u5834\u5408\u3001\u7d75\u30ab\u30fc\u30c9\u3001\u30b5\u30a4\u30f3\u3001AAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff1a\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u306a\u3069\uff09\u3092\u6d3b\u7528\u3057\u3001\u610f\u601d\u4f1d\u9054\u306e\u624b\u6bb5\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5408\u4f75\u75c7\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b9a\u671f\u691c\u8a3a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8eab\u4f53\u8a08\u6e2c\uff08\u7279\u306b\u982d\u56f2\u3068\u4f53\u91cd\uff09\u3001\u8996\u529b\u30fb\u8074\u529b\u691c\u67fb\u3001\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u306a\u3069\u3092\u5b9a\u671f\u7684\u306b\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u611f\u67d3\u75c7\u5bfe\u7b56:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u547c\u5438\u5668\u611f\u67d3\u75c7\u306a\u3069\u3092\u8d77\u3053\u3057\u3084\u3059\u3044\u5834\u5408\u304c\u3042\u308b\u305f\u3081\u3001\u30ef\u30af\u30c1\u30f3\u63a5\u7a2e\u3084\u611f\u67d3\u4e88\u9632\u306b\u52aa\u3081\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \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>\u6b21\u5b50\u306e\u598a\u5a20\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u306a\u3069\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08\u8ee2\u5ea7\u306e\u6709\u7121\u306e\u78ba\u8a8d\uff09\u3092\u884c\u3046\u304b\u3069\u3046\u304b\u306b\u3064\u3044\u3066\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u76f8\u8ac7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u91cd\u5ea6\u306e\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u306e\u5229\u7528\uff08\u969c\u5bb3\u8005\u624b\u5e33\u3001\u7642\u80b2\u624b\u5e33\u3001\u901a\u6240\u652f\u63f4\u306a\u3069\uff09\u3084\u3001\u60a3\u8005\u4f1a\u306a\u3069\u306e\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u3068\u306e\u9023\u643a\u304c\u3001\u3054\u5bb6\u65cf\u306e\u751f\u6d3b\u3092\u652f\u3048\u308b\u4e0a\u3067\u91cd\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>1q44 microdeletion syndrome\u306f\u30011\u756a\u67d3\u8272\u4f53\u306e\u672b\u7aef\u306b\u3042\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\uff08AKT3, ZBTB18, HNRNPU\u306a\u3069\uff09\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u982d\u75c7\u3084\u8133\u6881\u306e\u5f62\u6210\u4e0d\u5168\u3068\u3044\u3063\u305f\u8133\u306e\u7279\u5fb4\u306b\u52a0\u3048\u3001\u3066\u3093\u304b\u3093\u3084\u91cd\u5ea6\u306e\u767a\u9054\u306e\u9045\u308c\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u306f\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u75c5\u540d\u3084\u96e3\u3057\u3044\u75c7\u72b6\u306e\u8aac\u660e\u306b\u5927\u304d\u306a\u4e0d\u5b89\u3092\u611f\u3058\u3089\u308c\u308b\u3053\u3068\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u4ee3\u306e\u533b\u7642\u3067\u306f\u67d3\u8272\u4f53\u3092\u5143\u306b\u623b\u3059\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u304c\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u305f\u308a\u3001\u7642\u80b2\u306b\u3088\u3063\u3066\u304a\u5b50\u3055\u3093\u306e\u6301\u3063\u3066\u3044\u308b\u529b\u3092\u5f15\u304d\u51fa\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u306f\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8449\u3067\u306e\u4f1a\u8a71\u306f\u96e3\u3057\u3044\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u7b11\u9854\u3084\u8868\u60c5\u3001\u8eab\u632f\u308a\u306a\u3069\u3067\u8c4a\u304b\u306a\u611f\u60c5\u3092\u4f1d\u3048\u3066\u304f\u308c\u308b\u304a\u5b50\u3055\u3093\u3082\u305f\u304f\u3055\u3093\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u7642\u3001\u798f\u7949\u3001\u6559\u80b2\u306e\u5c02\u9580\u5bb6\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u6210\u9577\u3092\u7126\u3089\u305a\u9577\u3044\u76ee\u3067\u898b\u5b88\u3063\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\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>Ballif, B.C., et al.<\/strong> (2012). <em>Identification of a 1q43-q44 critical region for corpus callosum abnormalities, intellectual disability, and seizures.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b1q44\u9818\u57df\u306e\u907a\u4f1d\u5b50\uff08ZBTB18\u306a\u3069\uff09\u3068\u3001\u8133\u6881\u6b20\u640d\u3084\u3066\u3093\u304b\u3093\u306a\u3069\u306e\u81e8\u5e8a\u75c7\u72b6\u3068\u306e\u95a2\u9023\uff08\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\uff09\u3092\u8a73\u7d30\u306b\u7279\u5b9a\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Nagamani, S.C., et al.<\/strong> (2012). <em>Microdeletions including ZNF238 (ZBTB18) at 1q44 cause intellectual disability, corpus callosum abnormalities, and microcephaly.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bZBTB18\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u306a\u75c7\u72b6\u306e\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u7a81\u304d\u6b62\u3081\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Depienne, C., et al.<\/strong> (2017). <em>Genetic and phenotypic dissection of 1q43q44 microdeletions and duplications.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b1q44\u9818\u57df\u306e\u6b20\u5931\u3068\u91cd\u8907\u306b\u3064\u3044\u3066\u3001HNRNPU\u306a\u3069\u306e\u907a\u4f1d\u5b50\u3092\u542b\u3081\u305f\u8a73\u7d30\u306a\u907a\u4f1d\u5b50\u578b-\u8868\u73fe\u578b\u76f8\u95a2\u3092\u89e3\u6790\u3057\u305f\u30ec\u30d3\u30e5\u30fc\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Thiffault, I., et al.<\/strong> (2013). <em>ZNF238 is involved in cortical development and callosal projection neuron differentiation.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bZBTB18\uff08ZNF238\uff09\u304c\u8133\u306e\u5927\u8133\u76ae\u8cea\u3084\u8133\u6881\u306e\u767a\u9054\u306b\u3069\u306e\u3088\u3046\u306b\u95a2\u308f\u3063\u3066\u3044\u308b\u304b\u3092\u57fa\u790e\u7684\u306b\u89e3\u660e\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>AKT3<\/em>, <em>HNRNPU<\/em>, <em>ZBTB18<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5404\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff08\u6b20\u5931\uff09\u304c\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u306e\u79d1\u5b66\u7684\u6839\u62e0\u30ec\u30d9\u30eb\u3092\u8a55\u4fa1\u3057\u305f\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>1q4 deletion syndrome<\/em> (2018).\n<ul class=\"wp-block-list\">\n<li>(\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306e\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002\u751f\u6d3b\u4e0a\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u304c\u8a18\u8f09\u3055\u308c\u3066\u3044\u307e\u3059\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-16798","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\/16798","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":4,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16798\/revisions"}],"predecessor-version":[{"id":16818,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16798\/revisions\/16818"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16798"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}