{"id":16881,"date":"2026-01-21T01:39:37","date_gmt":"2026-01-21T01:39:37","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16881"},"modified":"2026-01-21T01:40:43","modified_gmt":"2026-01-21T01:40:43","slug":"1p36-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/1p36-deletion-syndrome\/","title":{"rendered":"1p36 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>1p36\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>1p36\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff081p36 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>1p36\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 1p36\uff09<\/li>\n\n\n\n<li>1\u756a\u67d3\u8272\u4f53\u77ed\u8155\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\uff08Deletion 1pter syndrome\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u67d3\u8272\u4f53\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u75be\u60a3\u540d\u306e\u89e3\u8aac\uff1a<\/p>\n\n\n\n<p>\u30d2\u30c8\u306e1\u756a\u67d3\u8272\u4f53\u306e\u300c\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u300d\u306e\u6700\u3082\u7aef\u3063\u3053\uff08\u672b\u7aef\uff09\u306b\u3042\u308b\u300c36\u300d\u3068\u3044\u3046\u30d0\u30f3\u30c9\u9818\u57df\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4ee5\u524d\u306f\u300c1p36\u30e2\u30ce\u30bd\u30df\u30fc\u300d\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3057\u305f\u304c\u3001\u73fe\u5728\u306f\u6b20\u5931\uff08deletion\uff09\u3068\u3044\u3046\u8a00\u8449\u3092\u7528\u3044\u305f\u300c1p36\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u304c\u56fd\u969b\u7684\u306b\u3082\u4e00\u822c\u7684\u306a\u547c\u79f0\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\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\uff0936\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e\u67d3\u8272\u4f53\u306e\u4e2d\u3067\u6700\u3082\u5927\u304d\u30441\u756a\u67d3\u8272\u4f53\u306e\u3001\u77ed\u8155\u306e\u6700\u672b\u7aef\uff08\u30c6\u30ed\u30e1\u30a2\u5074\uff09\u306b\u4f4d\u7f6e\u3059\u308b\u300c1p36\u300d\u9818\u57df\u306eDNA\u914d\u5217\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\u7279\u5fb4\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u300c1p36\u300d\u9818\u57df\u306f\u3001\u907a\u4f1d\u5b50\u5bc6\u5ea6\u304c\u6bd4\u8f03\u7684\u9ad8\u3044\u5834\u6240\u3067\u3042\u308a\u3001\u591a\u304f\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b20\u5931\u306e\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u3001\u6570100\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u7a0b\u5ea6\u306e\u5fae\u7d30\u306a\u3082\u306e\u304b\u3089\u300110\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u3092\u8d85\u3048\u308b\u5927\u304d\u306a\u6b20\u5931\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u307e\u3067\u306e\u7814\u7a76\u306b\u3088\u308a\u3001\u672c\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u300c\u8cac\u4efb\u9818\u57df\uff08Critical Region\uff09\u300d\u3084\u300c\u8cac\u4efb\u907a\u4f1d\u5b50\u300d\u304c\u7279\u5b9a\u3055\u308c\u3064\u3064\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u91cd\u8981\u306a\u8cac\u4efb\u907a\u4f1d\u5b50\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>GABRD (Gamma-Aminobutyric Acid Type A Receptor Delta Subunit):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u795e\u7d4c\u4f1d\u9054\u7269\u8ceaGABA\u306e\u53d7\u5bb9\u4f53\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u306e\u6b20\u5931\u306f\u3001\u672c\u75c7\u5019\u7fa4\u306b\u898b\u3089\u308c\u308b**\u300c\u3066\u3093\u304b\u3093\uff08\u75d9\u6523\u767a\u4f5c\uff09\u300d**\u3084\u795e\u7d4c\u767a\u9054\u306e\u554f\u984c\u306b\u6df1\u304f\u95a2\u308f\u3063\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SKI (SKI Proto-Oncogene):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u982d\u84cb\u9854\u9762\u306e\u5f62\u6210\u3084\u7b4b\u8089\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u306e\u6b20\u5931\u306f\u3001**\u300c\u53e3\u5507\u53e3\u84cb\u88c2\u300d**\u306a\u3069\u306e\u9854\u9762\u5f62\u6210\u7570\u5e38\u3084\u3001\u767a\u9054\u9045\u6ede\u306b\u95a2\u4e0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>PRDM16 (PR\/SET Domain 16):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u81d3\u306e\u767a\u751f\u3084\u4ee3\u8b1d\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u306e\u6b20\u5931\u306f\u3001**\u300c\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7\u300d<strong>\u3084<\/strong>\u300c\u5de6\u5ba4\u7dfb\u5bc6\u5316\u969c\u5bb3\u300d**\u306a\u3069\u306e\u91cd\u7be4\u306a\u5fc3\u75be\u60a3\u306e\u30ea\u30b9\u30af\u56e0\u5b50\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>KCNQ4 \/ MMP23B:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8074\u899a\u3084\u982d\u84cb\u7e2b\u5408\u306e\u5f62\u6210\u306b\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306b\u30011p36\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u96a3\u308a\u5408\u3063\u305f\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c\u307e\u3068\u3081\u3066\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u3001\u8133\u3001\u5fc3\u81d3\u3001\u9854\u3001\u7b4b\u8089\u306a\u3069\u591a\u81d3\u5668\u306b\u308f\u305f\u308b\u75c7\u72b6\u304c\u51fa\u308b**\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff08Contiguous gene syndrome\uff09\u300d**\u306e\u4ee3\u8868\u4f8b\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>\u7d045,000\u4eba \u301c 10,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u672b\u7aef\u6b20\u5931:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u306e\u300c\u7aef\u3063\u3053\u300d\u304c\u6b20\u3051\u308b\u30bf\u30a4\u30d7\u306e\u75be\u60a3\uff08\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\uff09\u306e\u4e2d\u3067\u306f\u3001<strong>\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u3044<\/strong>\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u30c0\u30a6\u30f3\u75c7\u5019\u7fa4\u306a\u3069\u306e\u67d3\u8272\u4f53\u6570\u7570\u5e38\u306b\u6bd4\u3079\u308b\u3068\u77e5\u540d\u5ea6\u306f\u4f4e\u3044\u3067\u3059\u304c\u3001\u81e8\u5e8a\u73fe\u5834\u3067\u306f\u6c7a\u3057\u3066\u7a00\u306a\u75be\u60a3\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u904e\u5c11\u8a3a\u65ad\u306e\u6b74\u53f2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u304b\u3064\u3066\u306e\u9855\u5fae\u93e1\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u306f\u3001\u6b20\u5931\u304c\u5c0f\u3055\u3059\u304e\u3066\u898b\u3064\u3051\u3089\u308c\u306a\u3044\u30b1\u30fc\u30b9\u304c\u591a\u304f\u3042\u308a\u307e\u3057\u305f\u3002\u8fd1\u5e74\u306e\u300c\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u300d\u3084\u300cFISH\u6cd5\u300d\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u3053\u308c\u307e\u3067\u300c\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u300d\u3068\u3055\u308c\u3066\u3044\u305f\u60a3\u8005\u3055\u3093\u304c\u3001\u5b9f\u306f\u3053\u306e\u75c7\u5019\u7fa4\u3067\u3042\u3063\u305f\u3068\u5224\u660e\u3059\u308b\u30b1\u30fc\u30b9\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6027\u5dee:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5973\u6027\u306e\u60a3\u8005\u3055\u3093\u304c\u7537\u6027\u3088\u308a\u3082\u3084\u3084\u591a\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\uff08\u5973\uff1a\u7537 \uff1d \u7d042\uff1a1\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\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>1p36 deletion syndrome\u306e\u75c7\u72b6\u306f\u975e\u5e38\u306b\u591a\u5f69\u3067\u3059\u304c\u3001**\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u300c\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u300d\u300c\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u300d**\u306e3\u3064\u304c\u4e2d\u6838\u7684\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3059\u3079\u3066\u306e\u60a3\u8005\u3055\u3093\u306b\u3059\u3079\u3066\u306e\u75c7\u72b6\u304c\u51fa\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u591a\u304f\u306e\u75c7\u72b6\u304c\u91cd\u8907\u3057\u3066\u73fe\u308c\u307e\u3059\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>\u304a\u9854\u7acb\u3061\u306b\u5171\u901a\u3059\u308b\u7279\u5fb4\u304c\u3042\u308a\u3001\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7709\u6bdb:<\/strong> \u76f4\u7dda\u7684\u3067\u3001\u7709\u5c3b\u304c\u4e0b\u304c\u3063\u3066\u3044\u306a\u3044\u300c\u4e00\u672c\u7709\uff08Straight eyebrows\uff09\u300d\u304c\u7279\u5fb4\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u76ee:<\/strong> \u6df1\u3044\u773c\u7aa9\uff08\u76ee\u304c\u5965\u307e\u3063\u3066\u3044\u308b\uff1aDeep-set eyes\uff09\u3001\u3084\u3084\u540a\u308a\u4e0a\u304c\u3063\u305f\u76ee\u3001\u773c\u9593\u958b\u96e2\u3002<\/li>\n\n\n\n<li><strong>\u9f3b:<\/strong> \u9f3b\u6839\u90e8\u304c\u5e73\u5766\u3067\u3001\u9f3b\u6881\u304c\u5e83\u3044\u3002<\/li>\n\n\n\n<li><strong>\u984e:<\/strong> \u984e\u304c\u5c16\u3063\u3066\u3044\u308b\uff08Pointed chin\uff09\u3002<\/li>\n\n\n\n<li><strong>\u982d\u306e\u5f62:<\/strong> \u5c0f\u982d\u75c7\uff08Microcephaly\uff09\u3084\u3001\u5927\u6cc9\u9580\uff08\u8d64\u3061\u3083\u3093\u306e\u982d\u306e\u307a\u3053\u307a\u3053\u3057\u305f\u90e8\u5206\uff09\u304c\u5927\u304d\u304f\u3001\u9589\u3058\u308b\u306e\u304c\u9045\u3044\uff08Late closing anterior fontanelle\uff09\u3053\u3068\u304c\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\u3067\u3001\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\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\uff08ID\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\u8457\u3057\u3044\u9045\u308c:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u300c\u8a00\u8449\u304c\u51fa\u306a\u3044\uff08Non-verbal\uff09\u300d<\/strong>\u3001\u3042\u308b\u3044\u306f\u6570\u8a9e\u306e\u5358\u8a9e\u306e\u307f\u3068\u3044\u3046\u30b1\u30fc\u30b9\u304c\u975e\u5e38\u306b\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001\u8a00\u8449\u3067\u306e\u8868\u73fe\u304c\u96e3\u3057\u304f\u3066\u3082\u3001\u3053\u3061\u3089\u306e\u8a00\u3063\u3066\u3044\u308b\u3053\u3068\u306e\u7406\u89e3\uff08\u53d7\u5bb9\u8a00\u8a9e\uff09\u306f\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u8eab\u632f\u308a\u3084\u30b5\u30a4\u30f3\u3001\u7d75\u30ab\u30fc\u30c9\u306a\u3069\u3067\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u53d6\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\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\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u958b\u59cb\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u304c\u9045\u308c\u307e\u3059\u3002\u6b69\u884c\u7372\u5f97\u307e\u3067\u6570\u5e74\u304b\u304b\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u306b\u3088\u308a\u7372\u5f97\u3067\u304d\u308b\u30b1\u30fc\u30b9\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u3066\u3093\u304b\u3093\uff08Epilepsy\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e**\u7d0450\u301c75%**\u306e\u60a3\u8005\u3055\u3093\u306b\u5408\u4f75\u3059\u308b\u3001\u7ba1\u7406\u4e0a\u6700\u3082\u91cd\u8981\u306a\u75c7\u72b6\u306e\u4e00\u3064\u3067\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> \u70b9\u982d\u3066\u3093\u304b\u3093\uff08\u30a6\u30a8\u30b9\u30c8\u75c7\u5019\u7fa4\uff09\u3001\u6b20\u795e\u767a\u4f5c\u3001\u5168\u822c\u5f37\u76f4\u9593\u4ee3\u767a\u4f5c\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\uff08\u96e3\u6cbb\u6027\uff09\u5834\u5408\u304c\u3042\u308a\u3001\u8907\u6570\u306e\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u8abf\u6574\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6210\u9577\u3068\u3068\u3082\u306b\u767a\u4f5c\u304c\u843d\u3061\u7740\u304f\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08Cardiovascular\uff09<\/strong><\/p>\n\n\n\n<p>\u7d04\u534a\u6570\u306e\u60a3\u8005\u3055\u3093\u306b\u5fc3\u75be\u60a3\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u69cb\u9020\u7570\u5e38:<\/strong> \u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09\u3001\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u3001\u52d5\u8108\u7ba1\u958b\u5b58\u75c7\uff08PDA\uff09\u3001\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u7b4b\u75c7:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u62e1\u5f35\u578b\u5fc3\u7b4b\u75c7<\/strong>\u3084<strong>\u5de6\u5ba4\u7dfb\u5bc6\u5316\u969c\u5bb3<\/strong>\u3068\u3044\u3063\u305f\u5fc3\u7b4b\uff08\u5fc3\u81d3\u306e\u7b4b\u8089\uff09\u306e\u75c5\u6c17\u304c\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u7279\u5fb4\u7684\u3067\u3059\u3002\u3053\u308c\u306f<em>PRDM16<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u304a\u308a\u3001\u9577\u671f\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u304c\u5fc5\u8981\u3067\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\u30fb\u6d88\u5316\u5668:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5150\u671f\u306e\u54fa\u4e73\u4e0d\u826f\u3001\u56a5\u4e0b\u969c\u5bb3\uff08\u98f2\u307f\u8fbc\u307f\u306b\u304f\u3044\uff09\u3001\u80c3\u98df\u9053\u9006\u6d41\u75c7\u306a\u3069\u304c\u591a\u304f\u3001\u7d4c\u7ba1\u6804\u990a\uff08\u9f3b\u30c1\u30e5\u30fc\u30d6\u3084\u80c3\u308d\u3046\uff09\u304c\u5fc5\u8981\u306b\u306a\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>\u8074\u899a\u969c\u5bb3\uff08\u611f\u97f3\u6027\u96e3\u8074\uff09\u3001\u8996\u899a\u969c\u5bb3\uff08\u5c48\u6298\u7570\u5e38\u3001\u659c\u8996\u3001\u767d\u5185\u969c\u306a\u3069\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9aa8\u683c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5074\u5f2f\u75c7\u3001\u624b\u8db3\u306e\u77ed\u7e2e\u3001\u7b2c5\u6307\u306e\u6e7e\u66f2\u306a\u3069\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\u50b7\u884c\u70ba\uff08\u982d\u3092\u53e9\u304f\u3001\u624b\u3092\u565b\u3080\u306a\u3069\uff09\u3001\u5e38\u540c\u884c\u52d5\u3001\u591a\u52d5\u306a\u3069\u306e\u884c\u52d5\u9762\u306e\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u4eba\u61d0\u3063\u3053\u304f\u611b\u60c5\u6df1\u3044\u6027\u683c\u3067\u3042\u308b\u3053\u3068\u3082\u591a\u3044\u3067\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\u77ed\u8155\u672b\u7aef\uff081p36\uff09\u306b\u304a\u3051\u308b\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>1p36\u6b20\u5931\u75c7\u5019\u7fa4\u306e**\u5927\u534a\uff08\u7d0495%\u4ee5\u4e0a\uff09**\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\u672b\u7aef\u304c\u3061\u304e\u308c\u3066\u306a\u304f\u306a\u3063\u3066\u3057\u307e\u3046\uff08Terminal deletion\uff09\u3084\u3001\u67d3\u8272\u4f53\u5185\u90e8\u304c\u6b20\u3051\u308b\uff08Interstitial deletion\uff09\u30d1\u30bf\u30fc\u30f3\u304c\u3042\u308a\u307e\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\uff08Inherited translocation\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6570%\u306e\u30b1\u30fc\u30b9\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>\u3053\u306e\u5834\u5408\u3001\u89aa\u5fa1\u3055\u3093\u81ea\u8eab\u306f\u5065\u5eb7\u3067\u3059\u304c\u3001\u5b50\u4f9b\u306b\u4e0d\u5747\u8861\u306a\u72b6\u614b\u3067\u67d3\u8272\u4f53\u304c\u53d7\u3051\u7d99\u304c\u308c\u30011p36\u6b20\u5931\u304c\u751f\u3058\u307e\u3059\u3002\u3053\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6b20\u5931\u30b5\u30a4\u30ba\u3068\u75c7\u72b6<\/strong><\/p>\n\n\n\n<p>\u4e00\u822c\u7684\u306b\u3001\u6b20\u5931\u3057\u3066\u3044\u308b\u7bc4\u56f2\u304c\u5927\u304d\u3044\u307b\u3069\u3001\u5dfb\u304d\u8fbc\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u6570\u304c\u591a\u304f\u306a\u308b\u305f\u3081\u3001\u75c7\u72b6\u304c\u91cd\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\uff08\u7279\u306b\u5fc3\u75be\u60a3\u3084\u53e3\u84cb\u88c2\u306a\u3069\uff09\u3002\u3057\u304b\u3057\u3001\u5c0f\u3055\u306a\u6b20\u5931\u3067\u3042\u3063\u3066\u3082\u3001\u91cd\u8981\u306a\u907a\u4f1d\u5b50\uff08GABRD\u306a\u3069\uff09\u304c\u542b\u307e\u308c\u3066\u3044\u308c\u3070\u3001\u3066\u3093\u304b\u3093\u3084\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u306a\u3069\u306e\u4e3b\u8981\u306a\u75c7\u72b6\u306f\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u767a\u9054\u9045\u6ede\u3001\u3066\u3093\u304b\u3093\u306a\u3069\u306e\u75c7\u72b6\u304b\u3089\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>1p36\u6b20\u5931\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>\u975e\u5e38\u306b\u5fae\u7d30\u306a\u6b20\u5931\u307e\u3067\u691c\u51fa\u3067\u304d\u3001\u6b63\u78ba\u306a\u6b20\u5931\u7bc4\u56f2\u3068\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>FISH\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>1p36\u9818\u57df\u306b\u7279\u7570\u7684\u306a\u30d7\u30ed\u30fc\u30d6\uff08\u76ee\u5370\uff09\u3092\u4f7f\u3063\u3066\u3001\u6b20\u5931\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u81e8\u5e8a\u7684\u306b\u5f37\u304f\u7591\u308f\u308c\u308b\u5834\u5408\u306b\u3001\u8fc5\u901f\u306a\u8a3a\u65ad\u306e\u305f\u3081\u306b\u7528\u3044\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5f93\u6765\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5927\u304d\u306a\u6b20\u5931\u3067\u3042\u308c\u3070\u691c\u51fa\u3067\u304d\u307e\u3059\u304c\u3001\u5fae\u7d30\u306a\u6b20\u5931\u306f\u898b\u9003\u3055\u308c\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>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6b20\u5931\u3057\u305f\u67d3\u8272\u4f53\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u9ad8\u3081\u308b\u305f\u3081\u306e\u5305\u62ec\u7684\u306a\u7642\u80b2\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002\u591a\u8077\u7a2e\u306b\u3088\u308b\u30c1\u30fc\u30e0\u533b\u7642\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u533b\u7642\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\u6cbb\u7642:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3092\u884c\u3044\u307e\u3059\u3002\u767a\u4f5c\u578b\u306b\u5408\u308f\u305b\u305f\u85ac\u5264\u8abf\u6574\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5faa\u74b0\u5668\u7ba1\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5148\u5929\u6027\u5fc3\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u624b\u8853\u3084\u5185\u670d\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5fc3\u7b4b\u75c7\u306e\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u3001\u5fc3\u81d3\u8d85\u97f3\u6ce2\u691c\u67fb\u306b\u3088\u308b\u5b9a\u671f\u7684\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u304c\u751f\u6daf\u306b\u308f\u305f\u308a\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6442\u98df\u30fb\u6804\u990a\u7ba1\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u54fa\u4e73\u4e0d\u826f\u3084\u56a5\u4e0b\u969c\u5bb3\u306b\u5bfe\u3057\u3066\u3001\u6442\u98df\u6307\u5c0e\u3084\u88dc\u52a9\u6804\u990a\uff08\u7d4c\u7ba1\u6804\u990a\u306a\u3069\uff09\u3092\u884c\u3044\u307e\u3059\u3002\u6210\u9577\u306b\u5fc5\u8981\u306a\u6804\u990a\u3092\u78ba\u4fdd\u3059\u308b\u3053\u3068\u306f\u3001\u8133\u306e\u767a\u9054\u306b\u3068\u3063\u3066\u3082\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u611f\u899a\u5668\u30b1\u30a2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u773c\u93e1\u3084\u88dc\u8074\u5668\u306e\u4f7f\u7528\u306b\u3088\u308a\u3001\u8996\u899a\u30fb\u8074\u899a\u304b\u3089\u306e\u60c5\u5831\u5165\u529b\u3092\u78ba\u4fdd\u3057\u3001\u767a\u9054\u3092\u4fc3\u3057\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\uff08Early Intervention\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u5f8c\u3001\u3067\u304d\u308b\u3060\u3051\u65e9\u671f\u304b\u3089\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u3067\u306e\u8868\u51fa\u304c\u96e3\u3057\u3044\u305f\u3081\u3001<strong>\u30de\u30ab\u30c8\u30f3\u30b5\u30a4\u30f3\uff08\u624b\u8a71\uff09<\/strong>\u3001<strong>PECS\uff08\u7d75\u30ab\u30fc\u30c9\uff09<\/strong>\u3001**AAC\uff08VOCA\u3084\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u306a\u3069\u306e\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09**\u3092\u7a4d\u6975\u7684\u306b\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\u30b9\u30c8\u30ec\u30b9\u3092\u6e1b\u3089\u3059\u3053\u3068\u3067\u3001\u81ea\u50b7\u884c\u70ba\u3084\u304b\u3093\u3057\u3083\u304f\u304c\u8efd\u6e1b\u3059\u308b\u3053\u3068\u304c\u3042\u308a\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>\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3084\u8eab\u4f53\u7684\u306a\u30b1\u30a2\u306e\u5fc5\u8981\u6027\u306b\u5408\u308f\u305b\u3066\u3001\u7279\u5225\u652f\u63f4\u5b66\u6821\u306a\u3069\u306e\u624b\u539a\u3044\u6559\u80b2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5bb6\u65cf\u652f\u63f4\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b21\u5b50\u306e\u598a\u5a20\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u3084\u3001\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u5f71\u97ff\u3092\u5fc3\u914d\u3055\u308c\u308b\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08\u8ee2\u5ea7\u306e\u6709\u7121\u306e\u78ba\u8a8d\uff09\u3092\u884c\u3046\u304b\u3069\u3046\u304b\u306b\u3064\u3044\u3066\u3001\u5c02\u9580\u5bb6\u3068\u76f8\u8ac7\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u4f1a\u30fb\u30b5\u30dd\u30fc\u30c8:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u60a3\u8005\u6570\u304c\u6bd4\u8f03\u7684\u591a\u3044\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u65e5\u672c\u56fd\u5185\u306b\u3082\u60a3\u8005\u5bb6\u65cf\u4f1a\u304c\u5b58\u5728\u3057\u307e\u3059\u3002\u540c\u3058\u60a9\u307f\u3092\u6301\u3064\u5bb6\u65cf\u3068\u306e\u60c5\u5831\u4ea4\u63db\u3084\u4ea4\u6d41\u306f\u3001\u5927\u304d\u306a\u7cbe\u795e\u7684\u652f\u3048\u3068\u306a\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>1p36 deletion syndrome\u306f\u30011\u756a\u67d3\u8272\u4f53\u306e\u672b\u7aef\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u3001\u6bd4\u8f03\u7684\u983b\u5ea6\u306e\u9ad8\u3044\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u8a00\u8449\u304c\u51fa\u306b\u304f\u3044\u300d\u300c\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u3042\u308b\u300d\u300c\u30df\u30eb\u30af\u304c\u98f2\u307f\u306b\u304f\u3044\u300d\u3068\u3044\u3063\u305f\u75c7\u72b6\u3067\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u3092\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u3044\u77e5\u7684\u969c\u5bb3\u3084\u8eab\u4f53\u7684\u306a\u5408\u4f75\u75c7\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u3053\u306e\u75be\u60a3\u3092\u6301\u3064\u304a\u5b50\u3055\u3093\u306f\u3001\u8a00\u8449\u4ee5\u5916\u306e\u65b9\u6cd5\uff08\u30b5\u30a4\u30f3\u3084\u8868\u60c5\u3001\u76ee\u306e\u52d5\u304d\u306a\u3069\uff09\u3092\u4f7f\u3063\u3066\u3001\u8c4a\u304b\u306a\u611f\u60c5\u3092\u4f1d\u3048\u3066\u304f\u308c\u307e\u3059\u3002\u4eba\u61d0\u3063\u3053\u304f\u3001\u5468\u56f2\u3092\u660e\u308b\u304f\u3059\u308b\u7b11\u9854\u3092\u898b\u305b\u3066\u304f\u308c\u308b\u3053\u3068\u3082\u5927\u304d\u306a\u9b45\u529b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u4ee3\u306e\u533b\u7642\u3067\u306f\u3001\u3066\u3093\u304b\u3093\u3084\u5fc3\u81d3\u75c5\u306e\u7ba1\u7406\u6280\u8853\u304c\u9032\u6b69\u3057\u3066\u304a\u308a\u3001\u65e9\u671f\u304b\u3089\u306e\u9069\u5207\u306a\u533b\u7642\u30b1\u30a2\u3068\u7642\u80b2\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u5b89\u5b9a\u3057\u305f\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u306f\u3001\u9577\u671f\u7684\u306a\u4ecb\u8b77\u3084\u652f\u63f4\u304c\u5fc5\u8981\u3068\u306a\u308b\u5834\u9762\u3082\u591a\u3044\u3067\u3059\u304c\u3001\u533b\u7642\u30fb\u798f\u7949\u30fb\u6559\u80b2\u306e\u5c02\u9580\u5bb6\u30c1\u30fc\u30e0\u3001\u305d\u3057\u3066\u60a3\u8005\u4f1a\u306a\u3069\u306e\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u3068\u3064\u306a\u304c\u308a\u306a\u304c\u3089\u3001\u304a\u5b50\u3055\u3093\u4e00\u4eba\u3072\u3068\u308a\u306e\u30da\u30fc\u30b9\u306b\u5408\u308f\u305b\u305f\u6210\u9577\u3092\u898b\u5b88\u3063\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>1p36 Deletion Syndrome<\/em>. Initial Posting: February 1, 2008; Last Update: March 25, 2021. <em>Authors: Battaglia A.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u672c\u75be\u60a3\u306e\u4e16\u754c\u7684\u6a29\u5a01\u3067\u3042\u308bBattaglia\u533b\u5e2b\u306b\u3088\u308b\u3001\u8a3a\u65ad\u3001\u81e8\u5e8a\u50cf\u3001\u7ba1\u7406\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u95a2\u3059\u308b\u6700\u3082\u4fe1\u983c\u3067\u304d\u308b\u5305\u62ec\u7684\u306a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Jordan, V.K., et al.<\/strong> (2015). <em>1p36 deletion syndrome: an update.<\/em> The Application of Clinical Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u75be\u60a3\u306e\u6982\u8981\u3001\u539f\u56e0\u907a\u4f1d\u5b50\uff08GABRD, PRDM16\u306a\u3069\uff09\u3068\u75c7\u72b6\u306e\u95a2\u9023\u3001\u6700\u65b0\u306e\u7814\u7a76\u77e5\u898b\u3092\u307e\u3068\u3081\u305f\u30ec\u30d3\u30e5\u30fc\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Battaglia, A., et al.<\/strong> (2008). <em>The behavioral phenotype of the 1p36 deletion syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b1p36\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u306b\u304a\u3051\u308b\u884c\u52d5\u7279\u6027\uff08\u81ea\u50b7\u884c\u70ba\u3001\u5e38\u540c\u884c\u52d5\u3001\u793e\u4f1a\u6027\u306a\u3069\uff09\u306b\u7126\u70b9\u3092\u5f53\u3066\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Heilstedt, H.A., et al.<\/strong> (2003). <em>Physical map of 1p36, placement of the key biological candidates for the 1p36 deletion syndrome, and clinical characterization of the syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b1p36\u9818\u57df\u306e\u7269\u7406\u5730\u56f3\u3092\u4f5c\u6210\u3057\u3001\u8cac\u4efb\u907a\u4f1d\u5b50\u5019\u88dc\u3092\u540c\u5b9a\u3057\u305f\u57fa\u790e\u7684\u306a\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>1p36 deletion syndrome<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u75c7\u72b6\u3084\u751f\u6d3b\u4e0a\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\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>ClinGen Dosage Sensitivity Curation<\/strong>: <em>GABRD<\/em>, <em>SKI<\/em>, <em>PRDM16<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5404\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\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-16881","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\/16881","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":3,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16881\/revisions"}],"predecessor-version":[{"id":16884,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16881\/revisions\/16884"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16881"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}