{"id":17126,"date":"2026-01-21T07:03:17","date_gmt":"2026-01-21T07:03:17","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17126"},"modified":"2026-01-21T07:03:17","modified_gmt":"2026-01-21T07:03:17","slug":"6q25-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/6q25-microdeletion-syndrome\/","title":{"rendered":"6q25 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>6q25\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>6q25\u6b20\u5931\u75c7\u5019\u7fa4\uff086q25 deletion syndrome\uff09<\/li>\n\n\n\n<li>6q25\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 6q25\uff09<\/li>\n\n\n\n<li>ARID1B\u30cf\u30d7\u30ed\u4e0d\u5168\u75c7\u5019\u7fa4\uff08ARID1B haploinsufficiency syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u306a\u75c7\u72b6\u306f\u3001\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308b<em>ARID1B<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u305f\u3081\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u57fa\u3065\u3044\u3066\u3053\u3046\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4 1\u578b\uff08Coffin-Siris syndrome 1; CSS1\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b<em>ARID1B<\/em>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3084\u6b20\u5931\u306f\u3001\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u306e\u6700\u3082\u4e3b\u8981\u306a\u539f\u56e0\u3067\u3059\u30026q25\u6b20\u5931\u306e\u60a3\u8005\u3055\u3093\u306f\u3001\u81e8\u5e8a\u7684\u306b\u3053\u306e\u8a3a\u65ad\u57fa\u6e96\u3092\u6e80\u305f\u3059\u3053\u3068\u304c\u591a\u304f\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u8133\u6881\u6b20\u640d\u3092\u4f34\u3046\u77e5\u7684\u969c\u5bb3\uff08Intellectual disability with corpus callosum agenesis\uff09<\/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 \u9577\u8155\uff08q\uff0925\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e6\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u672b\u7aef\u306b\u8fd1\u3044\u300c25\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\uff086q25.1\u301c6q25.3\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>6q25\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\u304b\u3089\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u3044\u304f\u3064\u304b\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\uff08\u8133\u306e\u69cb\u9020\u7570\u5e38\u3001\u77e5\u7684\u969c\u5bb3\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u6c7a\u5b9a\u7684\u306a\u539f\u56e0\uff08\u8cac\u4efb\u907a\u4f1d\u5b50\uff09\u306f\u30016q25.3\u306b\u4f4d\u7f6e\u3059\u308bARID1B\u907a\u4f1d\u5b50\u3067\u3042\u308b\u3068\u7279\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u6700\u91cd\u8981\u907a\u4f1d\u5b50\uff1aARID1B\u306e\u5f79\u5272\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>ARID1B (AT-Rich Interaction Domain 1B):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001SWI\/SNF\u30b3\u30f3\u30d7\u30ec\u30c3\u30af\u30b9\u3068\u547c\u3070\u308c\u308b\u300c\u30af\u30ed\u30de\u30c1\u30f3\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\u8907\u5408\u4f53\u300d\u306e\u4e00\u90e8\u3092\u4f5c\u308b\u8a2d\u8a08\u56f3\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f79\u5272:<\/strong> DNA\u306e\u6298\u308a\u305f\u305f\u307f\u69cb\u9020\uff08\u30af\u30ed\u30de\u30c1\u30f3\uff09\u3092\u7de9\u3081\u305f\u308a\u7de0\u3081\u305f\u308a\u3059\u308b\u3053\u3068\u3067\u3001\u300c\u3044\u3064\u3001\u3069\u306e\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u5165\u308c\u308b\u304b\u300d\u3092\u5236\u5fa1\u3059\u308b\u3001\u3044\u308f\u3070**\u300c\u907a\u4f1d\u5b50\u306e\u6307\u63ee\u8005\u300d**\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8133\u3078\u306e\u5f71\u97ff:<\/strong> \u7279\u306b\u80ce\u5150\u671f\u306e\u8133\u306e\u767a\u9054\u3001\u795e\u7d4c\u7d30\u80de\uff08\u30cb\u30e5\u30fc\u30ed\u30f3\uff09\u306e\u5206\u5316\u3001\u6a39\u72b6\u7a81\u8d77\u306e\u4f38\u9577\u306b\u304a\u3044\u3066\u6975\u3081\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30cf\u30d7\u30ed\u4e0d\u5168:<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u304c\u534a\u5206\uff08\u6b20\u5931\uff09\u306b\u306a\u308b\u3068\u3001\u8133\u306e\u767a\u9054\u30d7\u30ed\u30b0\u30e9\u30e0\u304c\u9069\u5207\u306b\u5b9f\u884c\u3055\u308c\u305a\u3001\u8133\u6881\u6b20\u640d\u3084\u91cd\u5ea6\u306e\u8a00\u8a9e\u9045\u6ede\u306a\u3069\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u304f\u3001\u96a3\u63a5\u3059\u308b\u4ed6\u306e\u907a\u4f1d\u5b50\uff08<em>TIAM2<\/em>\u306a\u3069\uff09\u3082\u542b\u307e\u308c\u308b\u5834\u5408\u306f\u3001\u75c7\u72b6\u304c\u4fee\u98fe\u3055\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u81e8\u5e8a\u50cf\u306e\u6838\u3068\u306a\u308b\u306e\u306f<em>ARID1B<\/em>\u306e\u6b20\u5931\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>\u7a00\uff08Rare\uff09\u3060\u304c\u3001\u77e5\u7684\u969c\u5bb3\u306e\u539f\u56e0\u3068\u3057\u3066\u306f\u91cd\u8981<\/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>\u67d3\u8272\u4f53\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u3057\u3066\u306f\u5e0c\u5c11\u3067\u3059\u304c\u3001\u300c\u539f\u56e0\u4e0d\u660e\u306e\u77e5\u7684\u969c\u5bb3\u300d\u3092\u6301\u3064\u60a3\u8005\u3055\u3093\u3092\u5bfe\u8c61\u306b\u5927\u898f\u6a21\u306a\u907a\u4f1d\u5b50\u89e3\u6790\uff08\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306a\u3069\uff09\u3092\u884c\u3046\u3068\u3001ARID1B\u907a\u4f1d\u5b50\u306e\u7570\u5e38\uff08\u5909\u7570\u307e\u305f\u306f\u6b20\u5931\uff09\u306f\u3001**\u30c8\u30c3\u30d7\u30af\u30e9\u30b9\u306e\u983b\u5ea6\uff08\u7d041%\u5f31\uff09**\u3067\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3064\u307e\u308a\u3001\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u3060\u3051\u3067\u3001\u6f5c\u5728\u7684\u306a\u60a3\u8005\u6570\u306f\u3053\u308c\u307e\u3067\u8003\u3048\u3089\u308c\u3066\u3044\u305f\u3088\u308a\u3082\u591a\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\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<\/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>6q25 microdeletion syndrome\u306e\u75c7\u72b6\u306f\u3001\u300c\u77e5\u7684\u969c\u5bb3\uff08\u7279\u306b\u8a00\u8a9e\u9045\u6ede\uff09\u300d\u300c\u8133\u6881\u6b20\u640d\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u300c\u5c0f\u6307\u306e\u4f4e\u5f62\u6210\u300d\u304c4\u5927\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306f\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u3068\u5927\u304d\u304f\u91cd\u306a\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\u4e2d\u7b49\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\u301c\u91cd\u5ea6\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u91cd\u5ea6\u306e\u8a00\u8a9e\u767a\u9054\u9045\u6ede\uff08Expressive speech delay\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u672c\u75c7\u5019\u7fa4\u306e\u969b\u7acb\u3063\u305f\u7279\u5fb4<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u7406\u89e3\uff08\u53d7\u5bb9\u8a00\u8a9e\uff09\u306b\u6bd4\u3079\u3066\u3001\u8a71\u3059\u3053\u3068\uff08\u8868\u51fa\u8a00\u8a9e\uff09\u304c\u8457\u3057\u304f\u9045\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6570\u8a9e\u3057\u304b\u8a71\u305b\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u767a\u8a9e\u304c\u306a\u3044\uff08Non-verbal\uff09\u5834\u5408\u3067\u3082\u3001\u8eab\u632f\u308a\u3084\u7406\u89e3\u529b\u306f\u6bd4\u8f03\u7684\u826f\u597d\u306a\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\uff1a<\/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>\u6b69\u884c\u958b\u59cb\u306f\u5e73\u5747\u3057\u30662\u301c3\u6b73\u9803\u3067\u3059\u304c\u3001\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u304c\u72ec\u6b69\u3092\u7372\u5f97\u3057\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. \u8133\u30fb\u795e\u7d4c\u7cfb\u306e\u7570\u5e38\uff08Brain anomalies\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8133\u6881\u6b20\u640d\u30fb\u4f4e\u5f62\u6210\uff08Corpus Callosum anomalies\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5de6\u53f3\u306e\u8133\u3092\u3064\u306a\u3050\u795e\u7d4c\u306e\u675f\uff08\u8133\u6881\uff09\u304c\u751f\u307e\u308c\u3064\u304d\u7121\u3044\uff08\u6b20\u640d\uff09\u3001\u3042\u308b\u3044\u306f\u7d30\u3044\uff08\u4f4e\u5f62\u6210\uff09\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u60a3\u8005\u3055\u3093\u306e**\u7d0430\u301c50%**\u306b\u898b\u3089\u308c\u308b\u91cd\u8981\u306a\u6240\u898b\u3067\u3042\u308a\u3001MRI\u691c\u67fb\u3067\u767a\u898b\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u8133\u6240\u898b:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u5ba4\u62e1\u5927\u3001\u5c0f\u8133\u866b\u90e8\u306e\u4f4e\u5f62\u6210\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\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>\u7d0420\u301c30%\u306e\u60a3\u8005\u3055\u3093\u3067\u3001\u4e73\u5e7c\u5150\u671f\u301c\u5c0f\u5150\u671f\u306b\u3066\u3093\u304b\u3093\u767a\u4f5c\u3092\u767a\u75c7\u3057\u307e\u3059\u3002\u591a\u304f\u306f\u85ac\u7269\u7642\u6cd5\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u53ef\u80fd\u3067\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>\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u306b\u4f3c\u305f\u3001\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u6210\u9577\u3068\u3068\u3082\u306b\u7279\u5fb4\u304c\u306f\u3063\u304d\u308a\u3057\u3066\u304f\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u76ee:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6fc3\u3044\u7709\u6bdb\u3001\u9577\u3044\u307e\u3064\u6bdb\u3002<\/li>\n\n\n\n<li>\u773c\u77bc\u88c2\u659c\u4e0b\uff08\u30bf\u30ec\u76ee\uff09\u3001\u307e\u305f\u306f\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9f3b:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9f3b\u6839\u90e8\u304c\u5e83\u304f\u5e73\u5766\u3002<\/li>\n\n\n\n<li>\u9f3b\u5148\u304c\u4e38\u304f\u592a\u3044\uff08\u7403\u72b6\u306e\u9f3b\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u53e3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\uff09\u304c\u9577\u3044\u3002<\/li>\n\n\n\n<li><strong>\u8584\u3044\u4e0a\u5507\uff08Thin upper lip\uff09\uff1a<\/strong> \u7279\u306b\u4e0a\u5507\u306e\u5c71\u304c\u5e73\u5766\u304b\u3001\u30c6\u30f3\u30c8\u72b6\u306b\u5c16\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u53e3\u304c\u5927\u304d\u3044\uff08\u5927\u53e3\u75c7\uff09\u3001\u539a\u3044\u4e0b\u5507\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u591a\u6bdb\uff08Hypertrichosis\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9854\uff08\u984d\u3084\u3053\u3081\u304b\u307f\uff09\u3001\u80cc\u4e2d\u3001\u8155\u306a\u3069\u306b\u6bdb\u304c\u591a\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u624b\u8db3\u306e\u7279\u5fb4\uff08Digital anomalies\uff09<\/strong><\/p>\n\n\n\n<p>\u8a3a\u65ad\u306e\u6c7a\u3081\u624b\u3068\u306a\u308b\u91cd\u8981\u306a\u30b5\u30a4\u30f3\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b2c5\u6307\uff08\u5c0f\u6307\uff09\u306e\u4f4e\u5f62\u6210:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u6307\u306e\u722a\u304c\u5c0f\u3055\u3044\u3001\u3042\u308b\u3044\u306f\u7121\u3044<\/strong>\u3053\u3068\u304c\u7279\u5fb4\u7684\u3067\u3059\uff08Fifth digit nail hypoplasia\/aplasia\uff09\u3002<\/li>\n\n\n\n<li>\u5c0f\u6307\u306e\u672b\u7bc0\u9aa8\uff08\u5148\u7aef\u306e\u9aa8\uff09\u304c\u77ed\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306f\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u306e\u4e3b\u5fb4\u3067\u3059\u304c\u30016q25\u6b20\u5931\u306e\u60a3\u8005\u3055\u3093\u3067\u3082\u8efd\u5ea6\u306a\u304c\u3089\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u5168\u304f\u6b63\u5e38\u306a\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u6642\u306e\u4f53\u683c\u306f\u6b63\u5e38\u306a\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u51fa\u751f\u5f8c\u306b\u6210\u9577\u7387\u304c\u4f4e\u4e0b\u3057\u3001\u4f4e\u8eab\u9577\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u611f\u899a\u5668:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u96e3\u8074\uff08\u611f\u97f3\u6027\u307e\u305f\u306f\u4f1d\u97f3\u6027\uff09\u3001\u8996\u529b\u969c\u5bb3\uff08\u659c\u8996\u3001\u5c48\u6298\u7570\u5e38\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6d88\u5316\u5668:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u54fa\u4e73\u56f0\u96e3\u3001\u80c3\u98df\u9053\u9006\u6d41\u75c7\uff08GERD\uff09\u3001\u4fbf\u79d8\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u69d8\u306e\u884c\u52d5\u3001\u591a\u52d5\u3001\u4e0d\u5b89\u3001\u653b\u6483\u6027\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e00\u65b9\u3067\u3001\u793e\u4ea4\u7684\u3067\u4eba\u61d0\u3063\u3053\u3044\u6027\u683c\u3067\u3042\u308b\u3053\u3068\u3082\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u75be\u60a3\u3001\u814e\u5947\u5f62\u3001\u505c\u7559\u7cbe\u5de3\u306a\u3069\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u983b\u5ea6\u306f\u9ad8\u304f\u3042\u308a\u307e\u305b\u3093\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\u9577\u8155\uff086q25\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>6q25\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\uff081%\u672a\u6e80\uff09\u3068\u3055\u308c\u3066\u3044\u307e\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>\u975e\u5e38\u306b\u7a00\u3067\u3059\u304c\u3001\u89aa\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3084\u3001\u89aa\u81ea\u8eab\u304c\u8efd\u75c7\u306e\u30e2\u30b6\u30a4\u30af\uff08\u4f53\u306e\u4e00\u90e8\u3060\u3051\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u308b\uff09\u3067\u3042\u308b\u5834\u5408\u3001\u5b50\u306b\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. \u30cf\u30d7\u30ed\u4e0d\u5168\uff08Haploinsufficiency\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u672c\u8cea\u7684\u306a\u539f\u56e0\u306f\u3001<em>ARID1B<\/em>\u907a\u4f1d\u5b50\u306e\u91cf\u304c\u534a\u5206\u306b\u306a\u308b\u3053\u3068\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u306e\u767a\u9054\u306b\u306f\u53b3\u5bc6\u306a\u91cf\u306e<em>ARID1B<\/em>\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u5fc5\u8981\u3067\u3042\u308a\u3001\u534a\u5206\u3067\u306f\u8db3\u308a\u305a\u3001\u795e\u7d4c\u56de\u8def\u306e\u69cb\u7bc9\u306b\u652f\u969c\u304c\u51fa\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\u767a\u9054\u9045\u6ede\u300d\u300c\u8a00\u8449\u306e\u9045\u308c\u300d\u300c\u8133\u6881\u6b20\u640d\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>6q25\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>ARID1B<\/em>\u907a\u4f1d\u5b50\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\u3066\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>\u982d\u90e8MRI\u691c\u67fb\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u9045\u6ede\u306e\u539f\u56e0\u7cbe\u67fb\u3068\u3057\u3066\u884c\u308f\u308c\u3001\u8133\u6881\u6b20\u640d\u3084\u4f4e\u5f62\u6210\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u3001\u672c\u75be\u60a3\u3092\u7591\u3046\u5f37\u529b\u306a\u6839\u62e0\u3068\u306a\u308a\u307e\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>ARID1B<\/em>\u907a\u4f1d\u5b50\u306e\u4e2d\u306e\u70b9\u5909\u7570\u3067\u3082\u5168\u304f\u540c\u3058\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\u73fe\u5728\u306f\u3053\u308c\u3089\u3092\u307e\u3068\u3081\u3066\u300cARID1B\u95a2\u9023\u969c\u5bb3\u300d\u3068\u3057\u3066\u6271\u3046\u3053\u3068\u304c\u4e00\u822c\u7684\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\u907a\u4f1d\u5b50\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\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\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\u512a\u5148\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u3082\u91cd\u8981\u306a\u30a2\u30d7\u30ed\u30fc\u30c1\u3067\u3059\u3002<\/strong><\/li>\n\n\n\n<li>\u7406\u89e3\u529b\u306b\u6bd4\u3079\u3066\u767a\u8a9e\u304c\u56f0\u96e3\u306a\u305f\u3081\u3001\u65e9\u671f\u304b\u3089\u30b5\u30a4\u30f3\u3001\u7d75\u30ab\u30fc\u30c9\uff08PECS\uff09\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\uff08VOCA\uff09\u306a\u3069\u306e**AAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09**\u3092\u5c0e\u5165\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u300c\u4f1d\u3048\u305f\u3044\u306e\u306b\u4f1d\u308f\u3089\u306a\u3044\u300d\u3068\u3044\u3046\u30d5\u30e9\u30b9\u30c8\u30ec\u30fc\u30b7\u30e7\u30f3\u3092\u89e3\u6d88\u3059\u308b\u3053\u3068\u3067\u3001\u304b\u3093\u3057\u3083\u304f\u306a\u3069\u306e\u884c\u52d5\u554f\u984c\u3092\u6e1b\u3089\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u30fb\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u5bfe\u3057\u3001\u4f53\u5e79\u3092\u935b\u3048\u3001\u904b\u52d5\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\u306b\u5bfe\u3057\u3001\u904a\u3073\u3092\u901a\u3058\u305f\u8a13\u7df4\u3092\u884c\u3044\u307e\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\u306b\u5408\u308f\u305b\u3066\u3001\u7279\u5225\u652f\u63f4\u5b66\u6821\u3084\u652f\u63f4\u5b66\u7d1a\u3092\u9078\u629e\u3057\u307e\u3059\u3002\u500b\u5225\u306e\u6559\u80b2\u652f\u63f4\u8a08\u753b\uff08IEP\uff09\u3092\u4f5c\u6210\u3057\u3001\u8996\u899a\u7684\u306a\u652f\u63f4\u3092\u53d6\u308a\u5165\u308c\u305f\u5b66\u7fd2\u74b0\u5883\u3092\u6574\u3048\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>\u3066\u3093\u304b\u3093:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u767a\u4f5c\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u611f\u899a\u5668:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u96e3\u8074\u3084\u8996\u529b\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u3001\u88dc\u8074\u5668\u3084\u773c\u93e1\u3092\u4f7f\u7528\u3057\u3001\u611f\u899a\u5165\u529b\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6d88\u5316\u5668\u30fb\u6804\u990a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u54fa\u4e73\u56f0\u96e3\u3084\u6210\u9577\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u3001\u6804\u990a\u6307\u5c0e\u3084\u9ad8\u30ab\u30ed\u30ea\u30fc\u30df\u30eb\u30af\u306e\u4f7f\u7528\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b6f\u4e26\u3073\u306e\u60aa\u3055\u3084\u866b\u6b6f\u306b\u5bfe\u3057\u3001\u5b9a\u671f\u7684\u306a\u30b1\u30a2\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \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>\u300c\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u8a3a\u65ad\u540d\u304c\u3064\u3044\u305f\u5834\u5408\u3067\u3082\u3001\u91cd\u75c7\u5ea6\u306f\u4eba\u305d\u308c\u305e\u308c\u3067\u3059\u3002\u7279\u306b6q25\u6b20\u5931\uff08ARID1B\u6b20\u5931\uff09\u306e\u5834\u5408\u306f\u3001\u5185\u81d3\u5947\u5f62\u306a\u3069\u306e\u5408\u4f75\u75c7\u306f\u6bd4\u8f03\u7684\u8efd\u5ea6\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u904e\u5ea6\u306b\u4e0d\u5b89\u306b\u306a\u3089\u306a\u3044\u3088\u3046\u6b63\u3057\u3044\u60c5\u5831\u3092\u4f1d\u3048\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\u3084\u3001\u5c06\u6765\u306e\u751f\u6d3b\u8a2d\u8a08\u306b\u3064\u3044\u3066\u76f8\u8ac7\u306b\u4e57\u308a\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>6q25 microdeletion syndrome\u306f\u30016\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u3001\u7279\u306b\u8133\u306e\u767a\u9054\u306b\u91cd\u8981\u306aARID1B\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\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\u3067\u3059\u304c\u3001\u3053\u3061\u3089\u306e\u8a00\u3063\u3066\u3044\u308b\u3053\u3068\u306f\u3088\u304f\u7406\u89e3\u3057\u3066\u304a\u308a\u3001\u8c4a\u304b\u306a\u8868\u60c5\u3084\u8eab\u632f\u308a\u3067\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u3068\u3063\u3066\u304f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u8133\u6881\u6b20\u640d\u300d\u3084\u300c\u77e5\u7684\u969c\u5bb3\u300d\u3068\u3044\u3046\u8a00\u8449\u3092\u805e\u304f\u3068\u3001\u3054\u5bb6\u65cf\u306f\u5c06\u6765\u306b\u3064\u3044\u3066\u5927\u304d\u306a\u4e0d\u5b89\u3092\u611f\u3058\u3089\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u306e\u75be\u60a3\u306e\u304a\u5b50\u3055\u3093\u306f\u3001\u91cd\u7be4\u306a\u5fc3\u81d3\u75c5\u306a\u3069\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u306f\u6bd4\u8f03\u7684\u5c11\u306a\u304f\u3001\u8eab\u4f53\u7684\u306b\u306f\u5065\u5eb7\u306b\u904e\u3054\u305b\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6027\u683c\u306f\u4eba\u61d0\u3063\u3053\u304f\u3001\u793e\u4ea4\u7684\u3067\u3042\u308b\u3053\u3068\u3082\u591a\u304f\u3001\u5b66\u6821\u751f\u6d3b\u3084\u5730\u57df\u793e\u4f1a\u306e\u4e2d\u3067\u611b\u3055\u308c\u308b\u5b58\u5728\u3068\u3057\u3066\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u5fb4\u7684\u306a\u300c\u5c0f\u6307\u306e\u722a\u304c\u5c0f\u3055\u3044\u300d\u3053\u3068\u3084\u300c\u6bdb\u6df1\u3044\u300d\u3068\u3044\u3063\u305f\u8eab\u4f53\u7684\u7279\u5fb4\u3082\u3001\u305d\u306e\u5b50\u306e\u500b\u6027\u306e\u4e00\u90e8\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6700\u3082\u5927\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u306f\u3001\u8a00\u8449\u304c\u51fa\u306b\u304f\u3044\u6642\u671f\u306b\u300c\u7d75\u30ab\u30fc\u30c9\u300d\u3084\u300c\u30b5\u30a4\u30f3\u300d\u3092\u4f7f\u3063\u3066\u3001\u304a\u5b50\u3055\u3093\u306e\u4f1d\u3048\u305f\u3044\u6c17\u6301\u3061\u3092\u6c72\u307f\u53d6\u3063\u3066\u3042\u3052\u308b\u3053\u3068\u3067\u3059\u3002\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u624b\u6bb5\u304c\u3042\u308c\u3070\u3001\u304a\u5b50\u3055\u3093\u306e\u4e16\u754c\u306f\u5927\u304d\u304f\u5e83\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u5150\u79d1\u533b\u3001\u795e\u7d4c\u79d1\u533b\u3001\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3001\u305d\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u3086\u3063\u304f\u308a\u3067\u3059\u304c\u7740\u5b9f\u306a\u6b69\u307f\u3092\u3001\u9577\u304f\u3001\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>Nagamani, S.C., et al.<\/strong> (2009). <em>Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.<\/em> European Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b6q25\u9818\u57df\u306e\u6b20\u5931\u3092\u65b0\u305f\u306a\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u3057\u3066\u63d0\u5531\u3057\u3001\u5c0f\u982d\u75c7\u3001\u96e3\u8074\u3001\u7279\u5fb4\u7684\u9854\u8c8c\u306a\u3069\u306e\u81e8\u5e8a\u50cf\u3092\u5b9a\u7fa9\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Halgren, C., et al.<\/strong> (2012). <em>Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bARID1B\u907a\u4f1d\u5b50\u306e\u6b20\u5931\uff086q25.3\uff09\u304c\u8133\u6881\u6b20\u640d\u3084\u91cd\u5ea6\u8a00\u8a9e\u9045\u6ede\u306e\u76f4\u63a5\u7684\u306a\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u5927\u898f\u6a21\u306a\u30b3\u30db\u30fc\u30c8\u7814\u7a76\u3067\u8a3c\u660e\u3057\u305f\u753b\u671f\u7684\u306a\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Santen, G.W., et al.<\/strong> (2012). <em>Mutations in SWI\/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.<\/em> Nature Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203bARID1B\u306e\u7570\u5e38\u304c\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u767a\u898b\u3057\u30016q25\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306e\u81e8\u5e8a\u7684\u30fb\u907a\u4f1d\u7684\u306a\u3064\u306a\u304c\u308a\u3092\u660e\u3089\u304b\u306b\u3057\u305f\u8a18\u5ff5\u7891\u7684\u306a\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Hoyer, J., et al.<\/strong> (2012). <em>Haploinsufficiency of ARID1B causes severe speech impairment, corpus callosum dysgenesis, and a distinctive facial phenotype.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bARID1B\u30cf\u30d7\u30ed\u4e0d\u5168\uff08\u6b20\u5931\uff09\u3092\u6301\u3064\u60a3\u8005\u306e\u7279\u5fb4\u3068\u3057\u3066\u3001\u7279\u306b\u300c\u8868\u51fa\u8a00\u8a9e\u306e\u91cd\u5ea6\u9045\u6ede\u300d\u3068\u300c\u8133\u6881\u5f62\u6210\u7570\u5e38\u300d\u3092\u5f37\u8abf\u3057\u305f\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>6q deletions (from 6q15 to 6q27)<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u767a\u9054\u306e\u76ee\u5b89\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4\uff08AAC\uff09\u3001ARID1B\u95a2\u9023\u306e\u60c5\u5831\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>GeneReviews\u00ae [Internet]<\/strong>: <em>ARID1B-Related Disorder<\/em>. Initial Posting: 2019. <em>Authors: Santen GWE, et al.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u672c\u75c7\u5019\u7fa4\u306e\u4e2d\u6838\u3068\u306a\u308bARID1B\u95a2\u9023\u969c\u5bb3\u306e\u8a3a\u65ad\u57fa\u6e96\u3001\u6700\u65b0\u306e\u7ba1\u7406\u6307\u91dd\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u60c5\u5831\u3092\u7db2\u7f85\u3057\u305f\u3001\u81e8\u5e8a\u73fe\u5834\u3067\u6700\u3082\u4fe1\u983c\u3055\u308c\u308b\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\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-17126","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\/17126","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\/17126\/revisions"}],"predecessor-version":[{"id":17128,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17126\/revisions\/17128"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17126"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}