{"id":16908,"date":"2026-01-21T02:11:24","date_gmt":"2026-01-21T02:11:24","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16908"},"modified":"2026-01-21T02:11:24","modified_gmt":"2026-01-21T02:11:24","slug":"1q43-q44-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/1q43-q44-deletion-syndrome\/","title":{"rendered":"1q43-q44 deletion 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>1q43-q44\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>1q43-q44\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff081q43-q44 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>1\u756a\u67d3\u8272\u4f53\u9577\u8155\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\uff081q terminal deletion syndrome\uff09<\/li>\n\n\n\n<li>1q43-q44\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 1q43-q44\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a1q44\u6b20\u5931\u75c7\u5019\u7fa4\uff081q44 deletion syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b1q44\u6b20\u5931\u306f\u672c\u75c7\u5019\u7fa4\u306e\u4e00\u90e8\uff08\u30b5\u30d6\u30bb\u30c3\u30c8\uff09\u3067\u3059\u304c\u30011q43\u9818\u57df\u307e\u3067\u6b20\u5931\u304c\u53ca\u3076\u672c\u75c7\u5019\u7fa4\u3067\u306f\u3001\u3088\u308a\u5e83\u7bc4\u306a\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u3092\u8003\u616e\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\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>1\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0943\u304b\u308944\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\u672b\u7aef\u306b\u8fd1\u3044\u300c43\u300d\u304b\u3089\u3001\u6700\u672b\u7aef\uff08\u30c6\u30ed\u30e1\u30a2\uff09\u3067\u3042\u308b\u300c44\u300d\u306b\u304b\u3051\u3066\u306e\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\u300c\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\uff08\u8cac\u4efb\u9818\u57df\uff09\u300d\u3011<\/p>\n\n\n\n<p>1\u756a\u67d3\u8272\u4f53\u306f\u30d2\u30c8\u30b2\u30ce\u30e0\u4e2d\u3067\u6700\u5927\u306e\u67d3\u8272\u4f53\u3067\u3059\u3002\u305d\u306e\u672b\u7aef\u3067\u3042\u308b1q43-q44\u9818\u57df\uff08\u7d046Mb\u306e\u7bc4\u56f2\uff09\u306b\u306f\u3001\u8133\u306e\u5f62\u6210\u3068\u6a5f\u80fd\u7dad\u6301\u306b\u6c7a\u5b9a\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u907a\u4f1d\u5b50\u304c\u5bc6\u96c6\u3057\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\u30011q44\u3060\u3051\u306e\u5c0f\u3055\u306a\u6b20\u5931\uff08\u6570\u767ekb\uff09\u304b\u3089\u30011q43\u3092\u542b\u3080\u5927\u304d\u306a\u6b20\u5931\uff08\u6570Mb\u4ee5\u4e0a\uff09\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\uff081q43-q44\u6b20\u5931\uff09\u3067\u306f\u3001\u4ee5\u4e0b\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u8907\u6570\u5931\u308f\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u3001\u91cd\u7be4\u306a\u75c7\u72b6\u306e\u5f62\u6210\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u4e3b\u8981\u306a\u8cac\u4efb\u907a\u4f1d\u5b50\u3068\u5f79\u5272\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>AKT3 (AKT Serine\/Threonine Kinase 3): 1q44<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7d30\u80de\u306e\u6210\u9577\u3068\u751f\u5b58\u3092\u5236\u5fa1\u3059\u308bmTOR\u7d4c\u8def\u306e\u91cd\u8981\u56e0\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u306e\u30b5\u30a4\u30ba\u3092\u6c7a\u5b9a\u3059\u308b\u5f79\u5272\u3092\u6301\u3061\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306f**\u300c\u5c0f\u982d\u75c7\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 \/ ZNF238): 1q44<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u795e\u7d4c\u7d30\u80de\u306e\u5206\u5316\u3084\u79fb\u52d5\u306b\u95a2\u308f\u308b\u8ee2\u5199\u56e0\u5b50\u3067\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\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\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): 1q44<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8fd1\u5e74\u6ce8\u76ee\u3055\u308c\u3066\u3044\u308b\u907a\u4f1d\u5b50\u3067\u3001RNA\u306e\u5236\u5fa1\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\uff08\u7279\u306b\u65e9\u671f\u767a\u75c7\u578b\uff09\u300d**\u3084\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u306e\u4e3b\u8981\u306a\u539f\u56e0\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>CEP170 (Centrosomal Protein 170): 1q43<\/strong>\n<ul class=\"wp-block-list\">\n<li>1q43\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u6881\u306e\u5f62\u6210\u306b\u95a2\u4e0e\u3057\u3066\u304a\u308a\u3001ZBTB18\u3068\u5171\u306b\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u3001\u8133\u6881\u7570\u5e38\u306e\u30ea\u30b9\u30af\u3084\u91cd\u75c7\u5ea6\u3092\u9ad8\u3081\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>NUDS1 (Nuclear Distribution C, Dynein Complex Regulator): 1q43<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u767a\u9054\uff08\u795e\u7d4c\u904a\u8d70\uff09\u306b\u95a2\u308f\u308a\u3001\u5c0f\u982d\u75c7\u3084\u8133\u6881\u7570\u5e38\u306e\u91cd\u75c7\u5ea6\u306b\u95a2\u9023\u3059\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u3064\u307e\u308a\u30011q43-q44\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u304c\u307e\u3068\u3081\u3066\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u3001\u8133\u306e\u300c\u5927\u304d\u3055\uff08\u5c0f\u982d\u75c7\uff09\u300d\u3001\u300c\u69cb\u9020\uff08\u8133\u6881\u6b20\u640d\uff09\u300d\u3001\u300c\u6a5f\u80fd\uff08\u3066\u3093\u304b\u3093\u30fb\u77e5\u7684\u969c\u5bb3\uff09\u300d\u306e\u3059\u3079\u3066\u306b\u5f71\u97ff\u304c\u51fa\u308b**\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d**\u3067\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\uff08Ultra-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\u306b\u304a\u3051\u308b\u8a73\u7d30\u306a\u75c7\u4f8b\u5831\u544a\u6570\u306f\u6570\u767e\u4f8b\u7a0b\u5ea6\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u300c\u7a00\u3060\u304b\u3089\u300d\u3068\u3044\u3046\u7406\u7531\u3060\u3051\u3067\u306a\u304f\u3001\u8a3a\u65ad\u6280\u8853\u306e\u554f\u984c\u3082\u95a2\u4fc2\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304b\u3064\u3066\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u306f\u30011q44\u306e\u5fae\u7d30\u306a\u6b20\u5931\u306f\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3057\u305f\u3002\u8fd1\u5e74\u306e\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u539f\u56e0\u4e0d\u660e\u306e\u5c0f\u982d\u75c7\u3084\u3066\u3093\u304b\u3093\u3092\u6301\u3064\u60a3\u8005\u3055\u3093\u306e\u4e2d\u304b\u3089\u65b0\u305f\u306b\u767a\u898b\u3055\u308c\u308b\u30b1\u30fc\u30b9\u304c\u5897\u52a0\u3057\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<p>1\u756a\u67d3\u8272\u4f53\u672b\u7aef\u306e\u6b20\u5931\u306f\u3001\u67d3\u8272\u4f53\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u4e2d\u3067\u306f\u6bd4\u8f03\u7684\u5831\u544a\u304c\u591a\u3044\u90e8\u985e\u306b\u5165\u308a\u307e\u3059\uff081p36\u6b20\u5931\u307b\u3069\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u91cd\u8981\u306a\u4f4d\u7f6e\u3092\u5360\u3081\u3066\u3044\u307e\u3059\uff09\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>1q43-q44 deletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u300d\u300c\u5c0f\u982d\u75c7\u300d\u300c\u8133\u6881\u306e\u7570\u5e38\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u300c\u3066\u3093\u304b\u3093\u300d**\u306e5\u3064\u304c\u4e2d\u6838\u7684\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>1q44\u5358\u72ec\u6b20\u5931\u306b\u6bd4\u3079\u30011q43\u307e\u3067\u6b20\u5931\u304c\u53ca\u3076\u3053\u3068\u3067\u3001\u77e5\u7684\u969c\u5bb3\u306e\u91cd\u75c7\u5ea6\u304c\u5897\u3057\u305f\u308a\u3001\u9854\u8c8c\u306e\u7279\u5fb4\u304c\u3088\u308a\u9855\u8457\u306b\u306a\u3063\u305f\u308a\u3059\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u5f62\u6210\u7570\u5e38\uff08CNS Malformations\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e\u6700\u3082\u8c61\u5fb4\u7684\u306a\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\u306e90%\u4ee5\u4e0a\u306b\u898b\u3089\u308c\u307e\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\u751f\u5f8c\u6570\u30f6\u6708\u304b\u3089\u982d\u56f2\u306e\u4f38\u3073\u304c\u505c\u6ede\u3057\u3001-2SD\u304b\u3089-3SD\u4ee5\u4e0b\u306e\u9855\u8457\u306a\u5c0f\u982d\u75c7\u3068\u306a\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\uff08<em>AKT3<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3068\u76f8\u95a2\uff09\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\u53f3\u8133\u3068\u5de6\u8133\u3092\u3064\u306a\u3050\u795e\u7d4c\u306e\u675f\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u60a3\u8005\u3055\u3093\u306e\u591a\u304f\u306b\u3001\u8133\u6881\u6b20\u640d\uff08ACC\uff09\u3084\u8133\u6881\u4f4e\u5f62\u6210\uff08\u8584\u3044\u30fb\u77ed\u3044\uff09\u304c\u898b\u3089\u308c\u307e\u3059\uff08<em>ZBTB18<\/em>\u304a\u3088\u3073<em>CEP170<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3068\u76f8\u95a2\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u8133\u5947\u5f62:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u8133\u866b\u90e8\u306e\u4f4e\u5f62\u6210\u3001\u8133\u5ba4\u62e1\u5927\u3001\u76ae\u8cea\u5f62\u6210\u7570\u5e38\u306a\u3069\u304c\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\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\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>\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\uff08Severe ID\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u304c\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\u6b20\u5982:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u304c\u8457\u3057\u304f\u3001<strong>\u300c\u767a\u8a9e\u304c\u306a\u3044\uff08Non-verbal\uff09\u300d<\/strong>\u3001\u3064\u307e\u308a\u6709\u610f\u8a9e\u3092\u8a71\u3055\u306a\u3044\u30b1\u30fc\u30b9\u304c\u975e\u5e38\u306b\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001\u8868\u60c5\u3084\u8eab\u632f\u308a\u3001\u767a\u58f0\u306b\u3088\u308b\u610f\u601d\u8868\u793a\u306f\u53ef\u80fd\u3067\u3042\u308a\u3001\u3053\u3061\u3089\u306e\u8a00\u3063\u3066\u3044\u308b\u3053\u3068\u306e\u7406\u89e3\uff08\u53d7\u5bb9\u8a00\u8a9e\uff09\u306f\u8868\u51fa\u3088\u308a\u3082\u826f\u597d\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\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<\/li>\n\n\n\n<li>\u6b69\u884c\u3092\u7372\u5f97\u3067\u304d\u308b\u60a3\u8005\u3055\u3093\u3082\u3044\u308c\u3070\u3001\u8eca\u6905\u5b50\u306b\u3088\u308b\u79fb\u52d5\u304c\u5fc5\u8981\u306a\u60a3\u8005\u3055\u3093\u3082\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\u59ff\u52e2\u4fdd\u6301\u304c\u56f0\u96e3\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u3066\u3093\u304b\u3093\uff08Seizures\uff09<\/strong><\/p>\n\n\n\n<p>\u60a3\u8005\u3055\u3093\u306e\u7d0450\u301c80%\u306b\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u75c7\u6642\u671f:<\/strong> \u4e73\u5150\u671f\u301c\u5c0f\u5150\u671f\u65e9\u671f\u306b\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u4f5c\u30bf\u30a4\u30d7:<\/strong> \u5168\u822c\u767a\u4f5c\u3001\u90e8\u5206\u767a\u4f5c\u3001\u71b1\u6027\u3051\u3044\u308c\u3093\u306a\u3069\u69d8\u3005\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u96e3\u6cbb\u6027:<\/strong> \u85ac\u304c\u52b9\u304d\u306b\u304f\u3044\u5834\u5408\u304c\u3042\u308a\u3001\u8907\u6570\u306e\u6297\u3066\u3093\u304b\u3093\u85ac\u306e\u8abf\u6574\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08<em>HNRNPU<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u5f37\u304f\u95a2\u4e0e\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>1q43-q44\u6b20\u5931\u7279\u6709\u306e\u3001\u300c\u4e38\u9854\u3067\u611b\u3089\u3057\u3044\u300d\u3068\u3044\u308f\u308c\u308b\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e38\u3044\u9854\uff08Round face\uff09:<\/strong> \u982c\u304c\u3075\u3063\u304f\u3089\u3068\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u9593\u958b\u96e2:<\/strong> \u76ee\u3068\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u9f3b\u306e\u7279\u5fb4:<\/strong> \u9f3b\u6839\u90e8\u304c\u4f4e\u304f\u5e73\u5766\u3001\u9f3b\u5148\u304c\u4e38\u3044\u3002<\/li>\n\n\n\n<li><strong>\u7709\u6bdb:<\/strong> \u7709\u6bdb\u306e\u5f62\u306b\u7279\u5fb4\u304c\u3042\u308b\uff08\u5185\u5074\u304c\u8584\u3044\u306a\u3069\uff09\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u53e3:<\/strong> \u53e3\u89d2\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\u3001\u4e0a\u5507\u304c\u8584\u3044\u3001\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\uff09\u304c\u9577\u3044\u3002<\/li>\n\n\n\n<li><strong>\u8033:<\/strong> \u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u306e\u5f62\u306e\u5909\u5f62\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u6210\u9577\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\u5f8c\u306e\u8eab\u9577\u30fb\u4f53\u91cd\u306e\u4f38\u3073\u304c\u60aa\u304f\u3001\u9855\u8457\u306a<strong>\u4f4e\u8eab\u9577<\/strong>\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u54fa\u4e73\u4e0d\u826f\u3084\u6442\u98df\u969c\u5bb3\uff08\u56a5\u4e0b\u56f0\u96e3\uff09\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\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\n\n\n<li><strong>\u624b\u8db3\u306e\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u8db3\u304c\u5c0f\u3055\u3044\uff08Small hands and feet\uff09\u3002<\/li>\n\n\n\n<li>\u7b2c5\u6307\u306e\u77ed\u7e2e\u3084\u6e7e\u66f2\uff08\u5185\u6e7e\u6307\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/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\u3001\u505c\u7559\u7cbe\u5de3\u306a\u3069\uff09\u3001\u659c\u8996\u306a\u3069\u306e\u773c\u79d1\u7684\u7570\u5e38\u304c\u5408\u4f75\u3059\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>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>1\u756a\u67d3\u8272\u4f53\u9577\u8155\u672b\u7aef\u90e8\uff081q43-q44\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>1q43-q44\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>\u4e0d\u5747\u8861\u8ee2\u5ea7\uff08Familial Translocation\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u306f\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\u3053\u3068\u306b\u7531\u6765\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c1\u756a\u67d3\u8272\u4f53\u672b\u7aef\u3092\u542b\u3080\u8ee2\u5ea7\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u5b50\u4f9b\u306b\u6b20\u5931\u304c\u751f\u3058\u308b\uff08\u4e0d\u5747\u8861\u8ee2\u5ea7\uff09\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u5834\u5408\u30011q\u306e\u6b20\u5931\u3060\u3051\u3067\u306a\u304f\u3001\u4ed6\u306e\u67d3\u8272\u4f53\u306e\u91cd\u8907\u3082\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u75c7\u72b6\u304c\u3088\u308a\u8907\u96d1\u306b\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\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<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>1q44\u306e\u307f\u306e\u6b20\u5931:<\/strong> \u5c0f\u982d\u75c7\u3001\u8133\u6881\u7570\u5e38\u3001\u3066\u3093\u304b\u3093\u304c\u4e3b\u75c7\u72b6\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>1q43\u307e\u3067\u53ca\u3076\u6b20\u5931:<\/strong> \u4e0a\u8a18\u306b\u52a0\u3048\u3001\u9854\u8c8c\u306e\u7279\u5fb4\u304c\u3088\u308a\u5f37\u304f\u306a\u308a\u3001\u6210\u9577\u969c\u5bb3\u3084\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u304c\u91cd\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\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\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u300d\u304c\u3042\u308a\u3001MRI\u3067\u300c\u8133\u6881\u6b20\u640d\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>\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**\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\uff08\u3069\u3053\u304b\u3089\u3069\u3053\u307e\u3067\u6b20\u3051\u3066\u3044\u308b\u304b\uff09\u3068\u3001<em>AKT3<\/em>\u3001<em>ZBTB18<\/em>\u3001<em>HNRNPU<\/em>\u3001<em>CEP170<\/em>\u306a\u3069\u306e\u3069\u306e\u91cd\u8981\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3092\u8a73\u7d30\u306b\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\u72b6\u614b\uff08\u6b20\u640d\u3001\u4f4e\u5f62\u6210\uff09\u3001\u8133\u5ba4\u306e\u5927\u304d\u3055\u3001\u76ae\u8cea\u306e\u5f62\u6210\u306a\u3069\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u5f8c\u3001\u305d\u308c\u304c\u7a81\u7136\u5909\u7570\u306a\u306e\u304b\u3001\u89aa\u306e\u8ee2\u5ea7\u7531\u6765\u306a\u306e\u304b\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u6b21\u5b50\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\u306b\u91cd\u8981\u3067\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\u3084\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\u3001\u305d\u3057\u3066\u5408\u4f75\u75c7\u7ba1\u7406\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\u8133\u6ce2\u6240\u898b\u306b\u57fa\u3065\u3044\u305f\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\u3001\u8907\u6570\u306e\u85ac\u5264\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. \u6804\u990a\u30fb\u6442\u98df\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6804\u990a\u30b5\u30dd\u30fc\u30c8:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u54fa\u4e73\u969c\u5bb3\u3084\u56a5\u4e0b\u6a5f\u80fd\u4f4e\u4e0b\u304c\u3042\u308b\u5834\u5408\u3001\u8aa4\u56a5\u6027\u80ba\u708e\u3092\u9632\u304e\u3001\u9069\u5207\u306a\u6804\u990a\u3092\u78ba\u4fdd\u3059\u308b\u305f\u3081\u306b\u3001\u30c8\u30ed\u30df\u98df\u306e\u5229\u7528\u3084\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u7d4c\u7ba1\u6804\u990a\uff08\u7d4c\u9f3b\u3001\u80c3\u308d\u3046\uff09\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u80c3\u98df\u9053\u9006\u6d41\u75c7\uff08GERD\uff09\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5185\u670d\u6cbb\u7642\u3084\u624b\u8853\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \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:<\/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\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\u8eca\u6905\u5b50\u3084\u88dc\u88c5\u5177\u306e\u4f5c\u6210\u3082\u30b5\u30dd\u30fc\u30c8\u3057\u307e\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>\u767a\u8a9e\u304c\u96e3\u3057\u3044\u5834\u5408\u304c\u591a\u3044\u305f\u3081\u3001\u7d75\u30ab\u30fc\u30c9\u3001\u30b5\u30a4\u30f3\u3001\u30b9\u30a4\u30c3\u30c1\u6559\u6750\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\uff08AAC\uff09\u306a\u3069\u3092\u6d3b\u7528\u3057\u3001\u610f\u601d\u4f1d\u9054\u306e\u624b\u6bb5\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u300c\u8a71\u305b\u306a\u304f\u3066\u3082\u7406\u89e3\u3057\u3066\u3044\u308b\u300d\u3053\u3068\u3092\u524d\u63d0\u306b\u95a2\u308f\u308b\u3053\u3068\u304c\u3001\u304a\u5b50\u3055\u3093\u306e\u610f\u6b32\u3092\u80b2\u3066\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5408\u4f75\u75c7\u306e\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9<\/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\u8eab\u9577\u30fb\u4f53\u91cd\u30fb\u982d\u56f2\uff09\u3001\u773c\u79d1\u30fb\u8074\u899a\u691c\u8a3a\u3001\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u3001\u814e\u81d3\u30a8\u30b3\u30fc\u691c\u67fb\u306a\u3069\u3092\u5b9a\u671f\u7684\u306b\u884c\u3044\u3001\u7570\u5e38\u306e\u65e9\u671f\u767a\u898b\u30fb\u5bfe\u5fdc\u306b\u52aa\u3081\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\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\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \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>\u91cd\u5ea6\u306e\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u3054\u5bb6\u65cf\u306e\u5fc3\u7406\u7684\u30fb\u8eab\u4f53\u7684\u8ca0\u62c5\u306f\u5927\u304d\u304f\u306a\u308a\u304c\u3061\u3067\u3059\u3002\u798f\u7949\u5236\u5ea6\uff08\u969c\u5bb3\u5150\u901a\u6240\u652f\u63f4\u3001\u30b7\u30e7\u30fc\u30c8\u30b9\u30c6\u30a4\u306a\u3069\uff09\u306e\u5229\u7528\u8abf\u6574\u3084\u3001\u60a3\u8005\u4f1a\u3068\u306e\u9023\u643a\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b21\u5b50\u306e\u8a08\u753b\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u306e\u7d50\u679c\u306b\u57fa\u3065\u3044\u305f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\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>1q43-q44 deletion syndrome\u306f\u30011\u756a\u67d3\u8272\u4f53\u306e\u672b\u7aef\u306b\u3042\u308b\u8907\u6570\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u982d\u304c\u5c0f\u3055\u3044\u300d\u300c\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u3042\u308b\u300d\u300c\u8a00\u8449\u304c\u51fa\u306a\u3044\u300d\u3068\u3044\u3063\u305f\u91cd\u3044\u75c7\u72b6\u304c\u91cd\u306a\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u306f\u8a3a\u65ad\u3092\u53d7\u3051\u5165\u308c\u308b\u3060\u3051\u3067\u3082\u5927\u304d\u306a\u845b\u85e4\u304c\u3042\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u306e\u75be\u60a3\u3092\u6301\u3064\u304a\u5b50\u3055\u3093\u305f\u3061\u306f\u3001\u8a00\u8449\u3067\u306e\u4f1a\u8a71\u306f\u96e3\u3057\u304f\u3066\u3082\u3001\u8c4a\u304b\u306a\u7b11\u9854\u3084\u8996\u7dda\u3001\u8eab\u632f\u308a\u3067\u611f\u60c5\u3092\u4f1d\u3048\u3066\u304f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u5c0f\u982d\u75c7\u300d\u3084\u300c\u8133\u6881\u6b20\u640d\u300d\u3068\u3044\u3063\u305f\u8133\u306e\u5f62\u306e\u9055\u3044\u306f\u3001\u305d\u306e\u5b50\u81ea\u8eab\u306e\u8133\u306e\u500b\u6027\u3068\u3082\u8a00\u3048\u307e\u3059\u3002\u8133\u306f\u53ef\u5851\u6027\uff08\u5909\u5316\u3059\u308b\u529b\uff09\u3092\u6301\u3063\u3066\u304a\u308a\u3001\u7642\u80b2\u3084\u65e5\u3005\u306e\u95a2\u308f\u308a\u3092\u901a\u3057\u3066\u3001\u305d\u306e\u5b50\u306a\u308a\u306e\u795e\u7d4c\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u3092\u7bc9\u3044\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3084\u6804\u990a\u7ba1\u7406\u3068\u3044\u3063\u305f\u533b\u7642\u7684\u30b1\u30a2\u3068\u3001\u4e00\u4eba\u3072\u3068\u308a\u306b\u5408\u308f\u305b\u305f\u7642\u80b2\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306f\u7740\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u7642\u3001\u798f\u7949\u3001\u6559\u80b2\u306e\u5c02\u9580\u5bb6\u30c1\u30fc\u30e0\u3068\u4e00\u7dd2\u306b\u3001\u304a\u5b50\u3055\u3093\u306e\u5fc3\u5730\u3088\u3044\u751f\u6d3b\u3068\u6210\u9577\u3092\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>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>(\u203b1q43-q44\u9818\u57df\u306e\u591a\u6570\u306e\u6b20\u5931\u4f8b\u3092\u89e3\u6790\u3057\u3001\u8133\u6881\u6b20\u640d\uff08ZBTB18\uff09\u3001\u5c0f\u982d\u75c7\uff08AKT3\uff09\u3001\u3066\u3093\u304b\u3093\uff08HNRNPU\u7b49\uff09\u306e\u8cac\u4efb\u9818\u57df\uff08\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\uff09\u3092\u8a73\u7d30\u306b\u30de\u30c3\u30d4\u30f3\u30b0\u3057\u305f\u3001\u672c\u75be\u60a3\u306e\u7406\u89e3\u306b\u4e0d\u53ef\u6b20\u306a\u91cd\u8981\u8ad6\u6587\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>(\u203b1q43-q44\u9818\u57df\u306e\u6b20\u5931\u3068\u91cd\u8907\u306b\u3064\u3044\u3066\u3001\u5404\u907a\u4f1d\u5b50\uff08AKT3, ZBTB18, HNRNPU\uff09\u306e\u6a5f\u80fd\u3068\u81e8\u5e8a\u75c7\u72b6\u306e\u76f8\u95a2\uff08Genotype-Phenotype Correlation\uff09\u3092\u7db2\u7f85\u7684\u306b\u89e3\u8aac\u3057\u305f\u30ec\u30d3\u30e5\u30fc\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\u8133\u6881\u7570\u5e38\u306e\u4e3b\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u7279\u5b9a\u3057\u305f\u7814\u7a76\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\u304c\u8133\u6881\u3092\u5f62\u6210\u3059\u308b\u795e\u7d4c\u7d30\u80de\u306e\u5206\u5316\u306b\u3069\u3046\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>de Munnik, S.A., et al.<\/strong> (2014). <em>CE Centrosomal protein 170 (CEP170) as a potential candidate gene for microcephaly and corpus callosum anomalies in 1q43q44 deletion syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bCEP170\u907a\u4f1d\u5b50\u304c1q43\u9818\u57df\u306b\u304a\u3051\u308b\u8133\u5f62\u6210\u7570\u5e38\u306e\u5019\u88dc\u907a\u4f1d\u5b50\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u5506\u3057\u305f\u7814\u7a76\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\u8a55\u4fa1\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-16908","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\/16908","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\/16908\/revisions"}],"predecessor-version":[{"id":16911,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16908\/revisions\/16911"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16908"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}