{"id":16876,"date":"2026-01-21T01:33:52","date_gmt":"2026-01-21T01:33:52","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16876"},"modified":"2026-01-21T01:35:37","modified_gmt":"2026-01-21T01:35:37","slug":"1p35-2-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/1p35-2-microdeletion-syndrome\/","title":{"rendered":"1p35.2 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>1p35.2\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>1p35.2\u6b20\u5931\u75c7\u5019\u7fa4\uff081p35.2 deletion syndrome\uff09<\/li>\n\n\n\n<li>1p35.2\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 1p35.2\uff09<\/li>\n\n\n\n<li>\u90e8\u5206\u76841\u756a\u67d3\u8272\u4f53\u77ed\u8155\u6b20\u5931\uff08Partial deletion of chromosome 1p\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a1p36\u6b20\u5931\u75c7\u5019\u7fa4\uff081p36 deletion syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u4f4d\u7f6e\u304c\u8fd1\u304f\u3001\u75c7\u72b6\u306e\u4e00\u90e8\u304c\u91cd\u8907\u3057\u307e\u3059\u304c\u3001\u660e\u78ba\u306b\u533a\u5225\u3055\u308c\u308b\u5225\u306e\u75be\u60a3\u3067\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 \u77ed\u8155\uff08p\uff0935.2\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e1\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306b\u3042\u308b\u300c35.2\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\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>1\u756a\u67d3\u8272\u4f53\u306f\u30d2\u30c8\u3067\u6700\u3082\u5927\u304d\u306a\u67d3\u8272\u4f53\u3067\u3042\u308a\u3001\u591a\u304f\u306e\u907a\u4f1d\u75be\u60a3\u306e\u821e\u53f0\u3068\u306a\u308a\u307e\u3059\u3002\u7279\u306b\u5148\u7aef\u306b\u8fd1\u3044\u300c1p36\u300d\u9818\u57df\u306e\u6b20\u5931\u306f\u6bd4\u8f03\u7684\u983b\u5ea6\u304c\u9ad8\u3044\u3053\u3068\u3067\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u305d\u306e\u5c11\u3057\u5185\u5074\u306b\u3042\u308b\u300c1p35.2\u300d\u9818\u57df\u306e\u6b20\u5931\u306f\u975e\u5e38\u306b\u7a00\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u306e\u7814\u7a76\u306b\u3088\u308a\u3001\u3053\u306e\u9818\u57df\u306e\u6b20\u5931\u304c\u7279\u5b9a\u306e\u81e8\u5e8a\u75c7\u72b6\uff08\u8868\u73fe\u578b\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u306a\u308a\u3064\u3064\u3042\u308a\u307e\u3059\u3002\u7279\u306b\u6ce8\u76ee\u3055\u308c\u3066\u3044\u308b\u8cac\u4efb\u907a\u4f1d\u5b50\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>HDAC1 (Histone Deacetylase 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u91cd\u8981\u306e\u8cac\u4efb\u907a\u4f1d\u5b50\u5019\u88dc<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>HDAC1\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u300c\u30d2\u30b9\u30c8\u30f3\u8131\u30a2\u30bb\u30c1\u30eb\u5316\u300d\u3068\u3044\u3046\u5316\u5b66\u53cd\u5fdc\u3092\u884c\u3046\u9175\u7d20\u3067\u3059\u3002\u3053\u308c\u306f\u3001DNA\u304c\u5dfb\u304d\u4ed8\u3044\u3066\u3044\u308b\u300c\u30d2\u30b9\u30c8\u30f3\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u69cb\u9020\u3092\u5909\u5316\u3055\u305b\u308b\u3053\u3068\u3067\u3001**\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u30aa\u30f3\u306b\u3057\u305f\u308a\u30aa\u30d5\u306b\u3057\u305f\u308a\u3059\u308b\uff08\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30af\u30b9\u5236\u5fa1\uff09**\u6975\u3081\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3057\u3066\u91cf\u304c\u534a\u5206\u306b\u306a\u308b\u3068\u3001\u80ce\u5150\u671f\u306e\u767a\u751f\u306b\u304a\u3044\u3066\u3001\u591a\u6570\u306e\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u30bf\u30a4\u30df\u30f3\u30b0\u3084\u91cf\u304c\u4e71\u308c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u3067\u3042\u308b\u300c\u7279\u7570\u306a\u9854\u8c8c\u300d\u3084\u300c\u767a\u9054\u306e\u9045\u308c\u300d\u306b\u3064\u306a\u304c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>KPNA6 (Karyopherin Subunit Alpha 6):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7d30\u80de\u8cea\u304b\u3089\u6838\u5185\u3078\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u8f38\u9001\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306f\u3001\u5973\u6027\u60a3\u8005\u306b\u304a\u3051\u308b\u598a\u5b55\u6027\uff08\u598a\u5a20\u3057\u3084\u3059\u3055\uff09\u3084\u3001\u53d7\u7cbe\u5375\u306e\u521d\u671f\u767a\u751f\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>COL11A1 (Collagen Type XI Alpha 1 Chain):<\/strong>\n<ul class=\"wp-block-list\">\n<li>1p21\u9818\u57df\u3068\u306e\u95a2\u9023\u304c\u6df1\u3044\u3067\u3059\u304c\u3001\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u3044\u5834\u5408\u3001\u5468\u8fba\u306e\u30b3\u30e9\u30fc\u30b2\u30f3\u95a2\u9023\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u3067\u3001\u9aa8\u683c\u3084\u8074\u899a\u3001\u8996\u899a\uff08\u785d\u5b50\u4f53\uff09\u306b\u5f71\u97ff\u304c\u51fa\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u6975\u3081\u3066\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>Orphanet\uff08\u4e16\u754c\u7684\u306a\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\uff09\u306a\u3069\u306e\u7d71\u8a08\u3067\u306f\u3001100\u4e07\u4eba\u306b1\u4eba\u672a\u6e80 (&lt;1 \/ 1,000,000) \u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u5b66\u6587\u732e\u3068\u3057\u3066\u8a73\u7d30\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u6570\u306f\u4e16\u754c\u3067\u3082\u6570\u4f8b\u301c\u6570\u5341\u4f8b\u7a0b\u5ea6\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u300c\u75be\u60a3\u304c\u5b58\u5728\u3057\u306a\u3044\u300d\u3053\u3068\u3092\u610f\u5473\u3059\u308b\u306e\u3067\u306f\u306a\u304f\u3001\u4ee5\u4e0b\u306e\u7406\u7531\u306b\u3088\u308a\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u300c\u96a0\u308c\u305f\u60a3\u8005\u3055\u3093\u300d\u304c\u3044\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u75c7\u72b6\u306e\u975e\u7279\u7570\u6027:<\/strong> \u4f4e\u8eab\u9577\u3084\u767a\u9054\u9045\u6ede\u306f\u4ed6\u306e\u591a\u304f\u306e\u75be\u60a3\u3067\u3082\u898b\u3089\u308c\u308b\u305f\u3081\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u306b\u6c17\u3065\u304b\u308c\u306a\u3044\u9650\u308a\u3001\u67d3\u8272\u4f53\u691c\u67fb\u304c\u884c\u308f\u308c\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u691c\u67fb\u6280\u8853\u306e\u9032\u6b69:<\/strong> \u5f93\u6765\u306eG\u30d0\u30f3\u30c9\u691c\u67fb\u3067\u306f\u898b\u9003\u3055\u308c\u308b\u3088\u3046\u306a\u5fae\u7d30\u306a\u6b20\u5931\u3067\u3042\u308b\u305f\u3081\u3001\u8fd1\u5e74\u306e\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306e\u666e\u53ca\u306b\u3088\u3063\u3066\u521d\u3081\u3066\u767a\u898b\u3055\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u65b0\u3057\u3044\u75be\u60a3\u5358\u4f4d\u3067\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>1p35.2 microdeletion syndrome\u306e\u81e8\u5e8a\u50cf\u306f\u30012015\u5e74\u306bWilson\u3089\u306b\u3088\u3063\u3066\u8a73\u7d30\u306b\u5831\u544a\u3055\u308c\u3001**\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u300c\u4f4e\u8eab\u9577\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u300c\u611f\u899a\u5668\uff08\u76ee\u30fb\u8033\uff09\u306e\u7570\u5e38\u300d**\u306e4\u3064\u304c\u4e2d\u6838\u7684\u306a\u7279\u5fb4\u3068\u3057\u3066\u5b9a\u7fa9\u3055\u308c\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p><strong>1. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u3092\u7591\u3046\u6700\u5927\u306e\u304d\u3063\u304b\u3051\u3068\u306a\u308b\u7279\u5fb4\u3067\u3059\u3002\u4e00\u898b\u3059\u308b\u3068\u300c\u7b4b\u529b\u304c\u5f31\u3044\u75c5\u6c17\uff08\u30df\u30aa\u30d1\u30c1\u30fc\uff09\u300d\u306e\u3088\u3046\u306a\u5370\u8c61\u3092\u4e0e\u3048\u308b\u72ec\u7279\u306e\u304a\u9854\u7acb\u3061\uff08Myopathic facies\uff09\u3092\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b4b\u969c\u5bb3\u69d8\u9854\u8c8c\uff08Myopathic facies\uff09:<\/strong> \u8868\u60c5\u304c\u4e4f\u3057\u304f\u3001\u9854\u306e\u7b4b\u8089\u306e\u5f35\u308a\u304c\u5f31\u3044\u5370\u8c61\u3092\u4e0e\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9577\u3044\u9854\uff08Long face\uff09:<\/strong> \u9854\u5168\u4f53\u304c\u7e26\u306b\u9577\u3044\u5370\u8c61\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u524d\u982d\u90e8\u306e\u7a81\u51fa:<\/strong> \u304a\u3067\u3053\u304c\u524d\u306b\u51fa\u3066\u3044\u308b\u3001\u307e\u305f\u306f\u5e83\u3044\u3002<\/li>\n\n\n\n<li><strong>\u7709\u6bdb\u306e\u7279\u5fb4:<\/strong> \u7709\u6bdb\u304c\u7d30\u3044\uff08Fine eyebrows\uff09\u3001\u3042\u308b\u3044\u306f\u8584\u3044\u3002<\/li>\n\n\n\n<li><strong>\u76ee:<\/strong> \u773c\u77bc\u88c2\u659c\u4e0b\uff08\u30bf\u30ec\u76ee\uff09\u3001\u773c\u77bc\u4e0b\u5782\uff08\u307e\u3076\u305f\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li><strong>\u53e3\u30fb\u984e:<\/strong> \u5c0f\u3055\u306a\u53e3\uff08Microstomia\uff09\u3001\u5c0f\u984e\u75c7\uff08\u3042\u3054\u304c\u5c0f\u3055\u3044\uff09\u3001\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\uff09\u304c\u5e73\u5766\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6210\u9577\u969c\u5bb3\u30fb\u9aa8\u683c<\/strong><\/p>\n\n\n\n<p>\u51fa\u751f\u524d\u304b\u3089\u51fa\u751f\u5f8c\u306b\u304b\u3051\u3066\u3001\u5168\u4f53\u7684\u306b\u5c0f\u67c4\u306a\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b50\u5bae\u5185\u767a\u80b2\u4e0d\u5168\uff08IUGR\uff09:<\/strong> \u598a\u5a20\u4e2d\u304b\u3089\u80ce\u5150\u306e\u4f53\u91cd\u304c\u5897\u3048\u306b\u304f\u304f\u3001\u5c0f\u3055\u304f\u751f\u307e\u308c\u308b\uff08SGA\u5150\uff09\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u8eab\u9577\uff08Short stature\uff09:<\/strong> \u51fa\u751f\u5f8c\u3082\u8eab\u9577\u306e\u4f38\u3073\u304c\u7de9\u3084\u304b\u3067\u3001-2SD\u3092\u4e0b\u56de\u308b\u4f4e\u8eab\u9577\u3092\u793a\u3059\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c:<\/strong> \u624b\u8db3\u304c\u5c0f\u3055\u3044\u3001\u6307\u304c\u7d30\u9577\u3044\u306a\u3069\u306e\u8efd\u5fae\u306a\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u5168\u4f8b\u3067\u4f55\u3089\u304b\u306e\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u304c\u3001\u91cd\u75c7\u5ea6\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5168\u822c\u7684\u767a\u9054\u9045\u6ede\uff08GDD\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5b66\u7fd2\u969c\u5bb3\uff08Learning difficulties\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306f\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u5177\u4f53\u7684\u306a\u5b66\u7fd2\uff08\u8aad\u307f\u66f8\u304d\u3001\u8a08\u7b97\u306a\u3069\uff09\u306b\u56f0\u96e3\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\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>\u4f53\u5e79\u306e\u7b4b\u8089\u304c\u67d4\u3089\u304b\u304f\u3001\u59ff\u52e2\u3092\u4fdd\u3064\u306e\u304c\u82e6\u624b\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u304c\u9854\u8c8c\u306e\u7279\u5fb4\uff08\u53e3\u304c\u958b\u3044\u305f\u307e\u307e\u306b\u306a\u308b\u306a\u3069\uff09\u306b\u3082\u5f71\u97ff\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u611f\u899a\u5668\uff08\u76ee\u30fb\u8033\uff09\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<p>\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3084\u5b66\u7fd2\u306b\u76f4\u7d50\u3059\u308b\u305f\u3081\u3001\u65e9\u671f\u767a\u898b\u304c\u91cd\u8981\u306a\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8074\u899a\u969c\u5bb3\uff08Hearing loss\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u611f\u97f3\u6027\u96e3\u8074\u307e\u305f\u306f\u4f1d\u97f3\u6027\u96e3\u8074\u306e\u5408\u4f75\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u96e3\u8074\u306f\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u306b\u76f4\u7d50\u3059\u308b\u305f\u3081\u3001\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u898b\u9003\u3055\u308c\u305f\u5834\u5408\u3067\u3082\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u7684\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>**\u9060\u8996\uff08Hypermetropia\uff09**\u304c\u9ad8\u983b\u5ea6\u3067\u898b\u3089\u308c\u307e\u3059\u3002\u5f37\u5ea6\u306e\u9060\u8996\u306f\u5f31\u8996\u306e\u539f\u56e0\u3068\u306a\u308b\u305f\u3081\u3001\u65e9\u671f\u306e\u773c\u93e1\u88c5\u7528\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u305d\u306e\u4ed6\u3001\u659c\u8996\u306a\u3069\u306e\u5831\u544a\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>\u6442\u98df\u969c\u5bb3:<\/strong> \u4e73\u5e7c\u5150\u671f\u306e\u54fa\u4e73\u4e0d\u826f\u3001\u56a5\u4e0b\u56f0\u96e3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u5fc3\u75be\u60a3:<\/strong> \u983b\u5ea6\u306f\u4e0d\u660e\u3067\u3059\u304c\u3001\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u4e00\u822c\u3068\u3057\u3066\u3001\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069\u306e\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306e\u30ea\u30b9\u30af\u3092\u8003\u616e\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\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\u77ed\u8155\uff081p35.2\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. HDAC1\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u3068\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30af\u30b9<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u6839\u672c\u7684\u306a\u539f\u56e0\u3068\u3057\u3066\u6700\u3082\u6709\u529b\u8996\u3055\u308c\u3066\u3044\u308b\u306e\u304c\u3001HDAC1\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u4e0d\u5168\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u305f\u3061\u306e\u4f53\u306f\u3001\u7d042\u4e07\u500b\u306e\u907a\u4f1d\u5b50\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u304c\u3001\u305d\u308c\u3089\u304c\u300c\u3044\u3064\u300d\u300c\u3069\u3053\u3067\u300d\u300c\u3069\u308c\u304f\u3089\u3044\u300d\u50cd\u304f\u304b\u3092\u6c7a\u3081\u3066\u3044\u308b\u306e\u304c\u300c\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30af\u30b9\u300d\u3068\u3044\u3046\u4ed5\u7d44\u307f\u3067\u3059\u3002<\/p>\n\n\n\n<p>HDAC1\u306f\u3001\u3053\u306e\u4ed5\u7d44\u307f\u306b\u304a\u3044\u3066\u3001\u4e0d\u8981\u306a\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u30aa\u30d5\u306b\u3059\u308b\uff08\u30af\u30ed\u30de\u30c1\u30f3\u3092\u51dd\u7e2e\u3055\u305b\u308b\uff09\u5f79\u5272\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9854\u8c8c\u3078\u306e\u5f71\u97ff:<\/strong> \u9854\u9762\u306e\u5f62\u6210\u306b\u306f\u3001\u975e\u5e38\u306b\u8907\u96d1\u306a\u907a\u4f1d\u5b50\u306e\u30aa\u30f3\u30fb\u30aa\u30d5\u306e\u5207\u308a\u66ff\u3048\u304c\u5fc5\u8981\u3067\u3059\u3002HDAC1\u304c\u4e0d\u8db3\u3059\u308b\u3068\u3001\u3053\u306e\u5236\u5fa1\u304c\u3046\u307e\u304f\u3044\u304b\u305a\u3001\u672c\u75c7\u5019\u7fa4\u306b\u7279\u5fb4\u7684\u306a\u300c\u7b4b\u969c\u5bb3\u69d8\u9854\u8c8c\u300d\u304c\u5f62\u6210\u3055\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6210\u9577\u3078\u306e\u5f71\u97ff:<\/strong> \u9aa8\u3084\u7b4b\u8089\u306e\u7d30\u80de\u5206\u88c2\u306e\u5236\u5fa1\u306b\u3082\u95a2\u308f\u308b\u305f\u3081\u3001\u4f4e\u8eab\u9577\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \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>1p35.2\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u591a\u304f\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>\u67d3\u8272\u4f53\u306e\u300c\u30b3\u30d4\u30fc\u30df\u30b9\u300d\u306e\u3088\u3046\u306a\u3082\u306e\u3067\u3042\u308a\u3001\u8ab0\u306e\u305b\u3044\u3067\u3082\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u975e\u5e38\u306b\u4f4e\u3044\uff08\u4e00\u822c\u96c6\u56e3\u3068\u540c\u7a0b\u5ea6\uff09\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\u5747\u8861\u578b\u8ee2\u5ea7\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6975\u3081\u3066\u7a00\u3067\u3059\u304c\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\u305d\u306e\u5834\u5408\u3001\u4e0d\u5747\u8861\u304c\u751f\u3058\u3066\u5b50\u4f9b\u306b\u6b20\u5931\u304c\u907a\u4f1d\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>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u300c\u4f4e\u8eab\u9577\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u306e\u7d44\u307f\u5408\u308f\u305b\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u304c\u3001\u81e8\u5e8a\u75c7\u72b6\u3060\u3051\u3067\u8a3a\u65ad\u3059\u308b\u3053\u3068\u306f\u56f0\u96e3\u3067\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>1p35.2\u9818\u57df\u306e\u5fae\u7d30\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>\u6b20\u5931\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\uff08bp\u5358\u4f4d\uff09\u3068\u3001<em>HDAC1<\/em>\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u81e8\u5e8a\u7684\u306a\u9664\u5916\u8a3a\u65ad:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3088\u308a\u983b\u5ea6\u306e\u9ad8\u3044\u300c1p36\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3084\u3001\u305d\u306e\u4ed6\u306e\u4f4e\u8eab\u9577\u75c7\u5019\u7fa4\uff08\u30b7\u30eb\u30d0\u30fc\u30fb\u30e9\u30c3\u30bb\u30eb\u75c7\u5019\u7fa4\u306a\u3069\uff09\u3067\u306f\u306a\u3044\u3053\u3068\u3092\u78ba\u8a8d\u3059\u308b\u904e\u7a0b\u3067\u3001\u3053\u306e\u75be\u60a3\u306b\u884c\u304d\u7740\u304f\u3053\u3068\u304c\u591a\u3044\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\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3001\u73fe\u6642\u70b9\u3067\u306f\u5b58\u5728\u3057\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\u6210\u9577\u30fb\u767a\u9054\u3092\u652f\u3048\u308b\u305f\u3081\u306e**\u5305\u62ec\u7684\u306a\u652f\u63f4\uff08\u30c8\u30fc\u30bf\u30eb\u30b1\u30a2\uff09**\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u611f\u899a\u5668\u306e\u7ba1\u7406\uff08\u6700\u512a\u5148\u4e8b\u9805\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u5f8c\u901f\u3084\u304b\u306b\u773c\u79d1\u3092\u53d7\u8a3a\u3057\u3001\u5c48\u6298\u691c\u67fb\uff08\u9060\u8996\u30fb\u4e71\u8996\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u9060\u8996\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u306f\u3001\u65e9\u671f\u304b\u3089<strong>\u773c\u93e1<\/strong>\u3092\u88c5\u7528\u3057\u3001\u5f31\u8996\u3092\u4e88\u9632\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8033\u9f3b\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7cbe\u5bc6\u306a\u8074\u529b\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002\u96e3\u8074\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u88dc\u8074\u5668\u306e\u4f7f\u7528\u3084\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\u3068\u306e\u9023\u643a\u3092\u884c\u3044\u307e\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:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u306e\u9045\u308c\u304c\u3042\u308b\u5834\u5408\u3001\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>\u6442\u98df\u6307\u5c0e:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u54fa\u4e73\u4e0d\u826f\u3084\u504f\u98df\u304c\u3042\u308b\u5834\u5408\u3001\u6804\u990a\u58eb\u3084ST\u306b\u3088\u308b\u6442\u98df\u6307\u5c0e\u3092\u884c\u3044\u3001\u9069\u5207\u306a\u6804\u990a\u6442\u53d6\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6559\u80b2\u74b0\u5883:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5b66\u7fd2\u969c\u5bb3\u3084\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u5408\u308f\u305b\u3001\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u3084\u901a\u7d1a\u6307\u5c0e\u6559\u5ba4\u306a\u3069\u3001\u500b\u5225\u306b\u9069\u3057\u305f\u6559\u80b2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002\u8996\u899a\u7684\u652f\u63f4\uff08\u9060\u8996\u3078\u306e\u914d\u616e\u306a\u3069\uff09\u3082\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u6210\u9577\u30fb\u5185\u5206\u6ccc\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5b9a\u671f\u7684\u306b\u8eab\u9577\u30fb\u4f53\u91cd\u3092\u8a08\u6e2c\u3057\u3001\u6210\u9577\u66f2\u7dda\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8457\u3057\u3044\u4f4e\u8eab\u9577\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5185\u5206\u6ccc\u79d1\u3067\u6210\u9577\u30db\u30eb\u30e2\u30f3\u306e\u5206\u6ccc\u80fd\u3092\u8abf\u3079\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5\u304c\u9069\u5fdc\u3068\u306a\u308b\u304b\u3069\u3046\u304b\u306f\u3001\u5206\u6ccc\u4e0d\u5168\u306e\u6709\u7121\u3084\u3001SGA\u6027\u4f4e\u8eab\u9577\u306e\u57fa\u6e96\u3092\u6e80\u305f\u3059\u304b\u306b\u3088\u3063\u3066\u5224\u65ad\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u672c\u75be\u60a3\u306f\u975e\u5e38\u306b\u7a00\u3067\u3042\u308a\u3001\u60c5\u5831\u306e\u5c11\u306a\u3055\u304c\u3054\u5bb6\u65cf\u306e\u4e0d\u5b89\u306b\u3064\u306a\u304c\u308a\u3084\u3059\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b21\u5b50\u306e\u518d\u767a\u30ea\u30b9\u30af\u3084\u3001\u5c06\u6765\u306e\u898b\u901a\u3057\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\u3001\u6b63\u78ba\u306a\u60c5\u5831\u3092\u5f97\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b\u300c1p36\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u6df7\u540c\u3055\u308c\u3084\u3059\u3044\u3067\u3059\u304c\u3001\u4e88\u5f8c\u3084\u5408\u4f75\u75c7\u306e\u30ea\u30b9\u30af\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u6b63\u78ba\u306a\u8a3a\u65ad\u540d\u306b\u57fa\u3065\u3044\u305f\u60c5\u5831\u3092\u5f97\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\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>1p35.2 microdeletion syndrome\u306f\u30011\u756a\u67d3\u8272\u4f53\u306e\u3054\u304f\u4e00\u90e8\u3001\u7279\u306bHDAC1\u907a\u4f1d\u5b50\u5468\u8fba\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u8868\u60c5\u304c\u7a4f\u3084\u304b\u3067\u3001\u9762\u9577\u306a\u304a\u9854\u7acb\u3061\u300d\u300c\u4f53\u304c\u5c0f\u3055\u3044\u300d\u300c\u9060\u8996\u3084\u96e3\u8074\u304c\u3042\u308b\u300d\u300c\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u300d\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u7d44\u307f\u5408\u308f\u3055\u3063\u3066\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u975e\u5e38\u306b\u7a00\u306a\u75c5\u6c17\u3067\u3042\u308b\u305f\u3081\u3001\u8a3a\u65ad\u304c\u3064\u304f\u307e\u3067\u306b\u9577\u3044\u6642\u9593\u304c\u304b\u304b\u3063\u305f\u308a\u3001\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u60c5\u5831\u304c\u898b\u3064\u304b\u3089\u305a\u306b\u4e0d\u5b89\u3092\u611f\u3058\u305f\u308a\u3055\u308c\u305f\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u306e\u75be\u60a3\u306e\u4e3b\u306a\u75c7\u72b6\u3067\u3042\u308b\u300c\u9060\u8996\u300d\u3084\u300c\u4f4e\u8eab\u9577\u300d\u3001\u300c\u767a\u9054\u306e\u9045\u308c\u300d\u306b\u306f\u3001\u305d\u308c\u305e\u308c\u78ba\u7acb\u3055\u308c\u305f\u5bfe\u5fdc\u7b56\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u773c\u93e1\u3092\u304b\u3051\u3066\u4e16\u754c\u3092\u304f\u3063\u304d\u308a\u898b\u308b\u3053\u3068\u3001\u88dc\u8074\u5668\u3067\u97f3\u3092\u805e\u304f\u3053\u3068\u3001\u305d\u3057\u3066\u7642\u80b2\u3067\u4f53\u306e\u4f7f\u3044\u65b9\u3092\u5b66\u3076\u3053\u3068\u3002\u3053\u308c\u3089\u4e00\u3064\u3072\u3068\u3064\u306e\u7a4d\u307f\u91cd\u306d\u304c\u3001\u304a\u5b50\u3055\u3093\u306e\u53ef\u80fd\u6027\u3092\u5927\u304d\u304f\u5e83\u3052\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u30da\u30fc\u30b9\u3067\u78ba\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002\u533b\u7642\u30c1\u30fc\u30e0\u3068\u9023\u643a\u3057\u3001\u5b9a\u671f\u7684\u306a\u691c\u8a3a\u3092\u53d7\u3051\u306a\u304c\u3089\u3001\u304a\u5b50\u3055\u3093\u306e\u5065\u3084\u304b\u306a\u6210\u9577\u3092\u6e29\u304b\u304f\u898b\u5b88\u3063\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>Wilson, B.T., et al.<\/strong> (2015). <em>Microdeletion 1p35.2: a recognizable facial phenotype with developmental delay.<\/em> American Journal of Medical Genetics Part A.\n<ul class=\"wp-block-list\">\n<li>(\u203b1p35.2\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u3092\u65b0\u305f\u306a\u81e8\u5e8a\u5358\u4f4d\u3068\u3057\u3066\u63d0\u5531\u3057\u305f\u6700\u91cd\u8981\u8ad6\u6587\u30022\u540d\u306e\u60a3\u8005\u306e\u8a73\u7d30\u306a\u81e8\u5e8a\u50cf\uff08\u7b4b\u969c\u5bb3\u69d8\u9854\u8c8c\u3001\u4f4e\u8eab\u9577\u3001\u9060\u8996\u306a\u3069\uff09\u3068\u3001HDAC1\u907a\u4f1d\u5b50\u306e\u95a2\u4e0e\u306b\u3064\u3044\u3066\u5831\u544a\u3057\u3066\u3044\u307e\u3059\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Orphanet<\/strong>: <em>1p35.2 microdeletion syndrome<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u4e16\u754c\u7684\u306a\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306b\u304a\u3051\u308b\u5b9a\u7fa9\u3068\u6982\u8981\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Loddo, G., et al.<\/strong> (2020). <em>Intellectual disability in a patient with 1p35.2 microdeletion: A case report and review of the literature.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u65b0\u305f\u306a\u75c7\u4f8b\u5831\u544a\u3068\u3001\u904e\u53bb\u306e\u6587\u732e\u30ec\u30d3\u30e5\u30fc\u3002\u767a\u9054\u7279\u6027\u306b\u95a2\u3059\u308b\u8a73\u7d30\u306a\u8a18\u8ff0\u304c\u542b\u307e\u308c\u307e\u3059\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>HDAC1<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203bHDAC1\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff08\u6b20\u5931\uff09\u304c\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u306b\u3064\u3044\u3066\u306e\u79d1\u5b66\u7684\u8a55\u4fa1\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>1p deletions<\/em> (General guide).\n<ul class=\"wp-block-list\">\n<li>(\u203b1\u756a\u67d3\u8272\u4f53\u77ed\u8155\u6b20\u5931\u5168\u822c\u306b\u95a2\u3059\u308b\u5bb6\u65cf\u5411\u3051\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\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-16876","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\/16876","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\/16876\/revisions"}],"predecessor-version":[{"id":16880,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16876\/revisions\/16880"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16876"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}