{"id":16871,"date":"2026-01-20T08:53:28","date_gmt":"2026-01-20T08:53:28","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16871"},"modified":"2026-01-20T08:56:02","modified_gmt":"2026-01-20T08:56:02","slug":"1p32-p31-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/1p32-p31-deletion-syndrome\/","title":{"rendered":"1p32-p31 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>1p32-p31\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>1p31.3\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff081p31.3 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>NFIA\u95a2\u9023\u969c\u5bb3\uff08NFIA-related disorder\uff09<\/li>\n\n\n\n<li>\u8133\u6881\u7570\u5e38\u30fb\u6ccc\u5c3f\u5668\u5947\u5f62\u75c7\u5019\u7fa4\uff08Brain malformations with or without urinary tract defects\uff09<\/li>\n\n\n\n<li>1p32-p31\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 1p32-p31\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a1\u756a\u67d3\u8272\u4f53\u77ed\u8155\u6b20\u5931\uff08Partial deletion of chromosome 1p\uff09<\/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\u77ed\u8155\uff08p\uff09\u306b\u3042\u308b\u300c32\u300d\u304b\u3089\u300c31\u300d\u3068\u547c\u3070\u308c\u308b\u9818\u57df\u306b\u307e\u305f\u304c\u308b\u6b20\u5931\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u307e\u3059\u304c\u3001\u8fd1\u5e74\u306e\u7814\u7a76\u306b\u3088\u308a\u3001\u7279\u306b1p31.3\u306b\u3042\u308bNFIA\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\uff08\u8133\u306e\u5f62\u6210\u7570\u5e38\u306a\u3069\uff09\u306e\u4e3b\u306a\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u533b\u5b66\u7684\u306b\u306f\u300cNFIA\u95a2\u9023\u969c\u5bb3\u300d\u3084\u300c1p31.3\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u3057\u3066\u5206\u985e\u30fb\u8a00\u53ca\u3055\u308c\u308b\u3053\u3068\u3082\u5897\u3048\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\uff0932\u304b\u308931\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\u30d0\u30f3\u30c9\u9818\u57df\u300c32\u300d\u304b\u3089\u300c31\u300d\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\u6700\u91cd\u8981\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>\u6b20\u5931\u306e\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u304b\u3089\u3001\u3088\u308a\u5e83\u7bc4\u56f2\u306b\u53ca\u3076\u5834\u5408\u307e\u3067\u69d8\u3005\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u672c\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u5f62\u6210\u306b\u304a\u3044\u3066\u6c7a\u5b9a\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u300c\u8cac\u4efb\u907a\u4f1d\u5b50\u300d\u306f\u4ee5\u4e0b\u306e\u3082\u306e\u7279\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>NFIA (Nuclear Factor I A):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>1p31.3\u9818\u57df<\/strong>\u306b\u4f4d\u7f6e\u3059\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u300c\u8ee2\u5199\u56e0\u5b50\u300d\u3068\u547c\u3070\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u3001\u80ce\u5150\u671f\u306b<strong>\u8133\uff08\u7279\u306b\u8133\u6881\u3084\u30b0\u30ea\u30a2\u7d30\u80de\uff09<\/strong>\u3001<strong>\u810a\u9ac4<\/strong>\u3001<strong>\u814e\u81d3\u30fb\u5c3f\u8def<\/strong>\u304c\u4f5c\u3089\u308c\u308b\u969b\u306e\u53f8\u4ee4\u5854\u3068\u3057\u3066\u50cd\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><em>NFIA<\/em>\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3057\u3066\u6a5f\u80fd\u304c\u534a\u5206\u306b\u306a\u308b\u3068\u3001\u5de6\u53f3\u306e\u8133\u3092\u3064\u306a\u3050\u6a4b\uff08\u8133\u6881\uff09\u304c\u3046\u307e\u304f\u4f5c\u3089\u308c\u306a\u304b\u3063\u305f\u308a\u3001\u5c3f\u8def\u306e\u5f62\u6210\u306b\u4e0d\u5177\u5408\u304c\u751f\u3058\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u304f\u3001\u4ed6\u306e\u907a\u4f1d\u5b50\u3082\u5dfb\u304d\u8fbc\u307e\u308c\u3066\u3044\u308b\u5834\u5408\u306f\u3001<em>NFIA<\/em>\u5358\u72ec\u306e\u5909\u7570\u3088\u308a\u3082\u75c7\u72b6\u304c\u591a\u69d8\u5316\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\uff08\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff09\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>\u975e\u5e38\u306b\u7a00\uff08Ultra-rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u306b\u304a\u3051\u308b\u8a73\u7d30\u306a\u75c7\u4f8b\u5831\u544a\u6570\u306f\u6570\u5341\u4f8b\u301c\u767e\u4f8b\u672a\u6e80\u306e\u898f\u6a21\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\uff08Rare Chromosome Disorder\uff09\u306e\u4e00\u3064\u3067\u3059\u304c\u3001MRI\u691c\u67fb\u3067\u300c\u8133\u6881\u6b20\u640d\u300d\u304c\u898b\u3064\u304b\u308a\u3001\u305d\u306e\u539f\u56e0\u691c\u7d22\u3068\u3057\u3066\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u3092\u884c\u3063\u305f\u7d50\u679c\u3001\u3053\u306e\u6b20\u5931\u304c\u898b\u3064\u304b\u308b\u3068\u3044\u3046\u30d1\u30bf\u30fc\u30f3\u3067\u8a3a\u65ad\u3055\u308c\u308b\u30b1\u30fc\u30b9\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5b9f\u969b\u306b\u306f\u3001\u8efd\u75c7\u4f8b\u3092\u542b\u3081\u308b\u3068\u5831\u544a\u6570\u3088\u308a\u3082\u591a\u304f\u306e\u672a\u8a3a\u65ad\u60a3\u8005\u3055\u3093\u304c\u5b58\u5728\u3059\u308b\u3068\u63a8\u6e2c\u3055\u308c\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>1p32-p31 deletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u7570\u5e38\uff08\u8133\u6881\u6b20\u640d\uff09\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u300c\u6ccc\u5c3f\u5668\u7cfb\u306e\u7570\u5e38\u300d**\u306e4\u3064\u304c\u5927\u304d\u306a\u67f1\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u300c\u67d3\u8272\u4f53\u6b20\u5931\u306a\u306e\u306b\u982d\u304c\u5927\u304d\u3044\uff08\u5927\u982d\u75c7\uff09\u300d\u5834\u5408\u304c\u3042\u308b\u70b9\u306f\u3001\u5c0f\u982d\u75c7\u306b\u306a\u308a\u3084\u3059\u3044\u4ed6\u306e\u591a\u304f\u306e\u67d3\u8272\u4f53\u7570\u5e38\u3068\u306f\u7570\u306a\u308b\u30e6\u30cb\u30fc\u30af\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u5f62\u6210\u7570\u5e38\uff08CNS Malformations\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u6700\u3082\u9ad8\u983b\u5ea6\u304b\u3064\u7279\u5fb4\u7684\u306a\u6240\u898b\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8133\u6881\u306e\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u8133\u6881\u6b20\u640d\u75c7\uff08Agenesis of the corpus callosum; ACC\uff09\u3084\u8133\u6881\u4f4e\u5f62\u6210<\/strong>\u304c\u3001\u60a3\u8005\u3055\u3093\u306e\u591a\u304f\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u6881\u306f\u53f3\u8133\u3068\u5de6\u8133\u3092\u3064\u306a\u3050\u60c5\u5831\u306e\u30d1\u30a4\u30d7\u30e9\u30a4\u30f3\u3067\u3059\u304c\u3001<em>NFIA<\/em>\u907a\u4f1d\u5b50\u306e\u4e0d\u8db3\u306b\u3088\u308a\u3001\u3053\u306e\u30d1\u30a4\u30d7\u30e9\u30a4\u30f3\u3092\u4f5c\u308b\u305f\u3081\u306e\u8db3\u5834\uff08\u30b0\u30ea\u30a2\u7d30\u80de\u306e\u6b63\u4e2d\u7dda\u69cb\u9020\uff09\u304c\u3046\u307e\u304f\u5f62\u6210\u3055\u308c\u306a\u3044\u3053\u3068\u304c\u539f\u56e0\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8133\u5ba4\u62e1\u5927:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u6881\u306e\u5f62\u6210\u4e0d\u5168\u306b\u4f34\u3044\u3001\u8133\u5ba4\uff08\u8133\u306e\u4e2d\u306e\u6c34\u305f\u307e\u308a\uff09\u304c\u5927\u304d\u304f\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30ad\u30a2\u30ea\u5947\u5f62\uff081\u578b\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u8133\u306e\u4e00\u90e8\u304c\u810a\u67f1\u7ba1\u3078\u843d\u3061\u8fbc\u3080\u5947\u5f62\u304c\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u810a\u9ac4\u4fc2\u7559\u75c7\u5019\u7fa4\uff08Tethered cord syndrome\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u810a\u9ac4\u306e\u4e0b\u7aef\u304c\u5468\u56f2\u306e\u7d44\u7e54\u306b\u7652\u7740\u3057\u3001\u5f15\u3063\u5f35\u3089\u308c\u3066\u3057\u307e\u3046\u72b6\u614b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\u3067\u3001\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>\u5168\u822c\u7684\u306a\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>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u7406\u89e3\u3084\u8868\u51fa\u304c\u3086\u3063\u304f\u308a\u3067\u3059\u3002\u8133\u6881\u306e\u7570\u5e38\u306b\u3088\u308a\u3001\u60c5\u5831\u306e\u7d71\u5408\u3084\u51e6\u7406\u306b\u6642\u9593\u304c\u304b\u304b\u308b\u3053\u3068\u304c\u5f71\u97ff\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\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>\u4e73\u5e7c\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u3050\u306b\u3083\u3050\u306b\u3083\u3057\u3066\u3044\u308b\u72b6\u614b\uff08\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\uff09\u304c\u898b\u3089\u308c\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u307e\u3059\u304c\u3001\u3044\u304f\u3064\u304b\u306e\u5171\u901a\u3057\u305f\u7279\u5fb4\uff08Dysmorphism\uff09\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5927\u982d\u75c7\uff08Macrocephaly\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u982d\u56f2\u304c\u5927\u304d\u3044\u3001\u307e\u305f\u306f\u8eab\u4f53\u306b\u5bfe\u3057\u3066\u982d\u304c\u76f8\u5bfe\u7684\u306b\u5927\u304d\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f<em>NFIA<\/em>\u30cf\u30d7\u30ed\u4e0d\u5168\u306b\u7279\u5fb4\u7684\u306a\u6240\u898b\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u984d\u306e\u7a81\u51fa:<\/strong> \u304a\u3067\u3053\u304c\u524d\u306b\u51fa\u3066\u3044\u308b\u3001\u5e83\u3044\u3002<\/li>\n\n\n\n<li><strong>\u773c\u9593\u958b\u96e2:<\/strong> \u76ee\u3068\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u9f3b\u306e\u7279\u5fb4:<\/strong> \u9f3b\u6839\u90e8\u304c\u5e83\u3044\u3001\u9f3b\u5148\u304c\u4e0a\u3092\u5411\u3044\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u8033:<\/strong> \u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u4ecb\u306e\u5909\u5f62\u3002<\/li>\n\n\n\n<li><strong>\u984e:<\/strong> \u5c0f\u3055\u306a\u984e\uff08\u5c0f\u984e\u75c7\uff09\u3001\u5c16\u3063\u305f\u984e\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u814e\u30fb\u6ccc\u5c3f\u5668\u7cfb\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<p><em>NFIA<\/em>\u907a\u4f1d\u5b50\u306f\u814e\u81d3\u306e\u767a\u9054\u306b\u3082\u95a2\u4e0e\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u4ee5\u4e0b\u306e\u5408\u4f75\u75c7\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8180\u80f1\u5c3f\u7ba1\u9006\u6d41\u75c7\uff08VUR\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c3f\u304c\u8180\u80f1\u304b\u3089\u814e\u81d3\u3078\u9006\u6d41\u3057\u3066\u3057\u307e\u3046\u75c5\u614b\u3067\u3059\u3002\u814e\u76c2\u814e\u708e\uff08\u9ad8\u71b1\u304c\u51fa\u308b\uff09\u3092\u7e70\u308a\u8fd4\u3059\u539f\u56e0\u3068\u306a\u308a\u3001\u653e\u7f6e\u3059\u308b\u3068\u814e\u6a5f\u80fd\u969c\u5bb3\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6c34\u814e\u75c7:<\/strong> \u814e\u81d3\u304c\u816b\u308c\u308b\u72b6\u614b\u3002<\/li>\n\n\n\n<li><strong>\u814e\u4f4e\u5f62\u6210:<\/strong> \u814e\u81d3\u304c\u5c0f\u3055\u3044\u3001\u307e\u305f\u306f\u7247\u65b9\u3057\u304b\u306a\u3044\uff08\u5358\u814e\uff09\u3002<\/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>\u3066\u3093\u304b\u3093:<\/strong> \u3051\u3044\u308c\u3093\u767a\u4f5c\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c\u7570\u5e38:<\/strong> \u5074\u5f2f\u75c7\u3001\u95a2\u7bc0\u306e\u904e\u4f38\u5c55\uff08\u95a2\u7bc0\u304c\u67d4\u3089\u304b\u3059\u304e\u308b\uff09\u3001\u591a\u6307\u75c7\u306a\u3069\u304c\u7a00\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u884c\u52d5\u7279\u6027:<\/strong> \u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u3084\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u69d8\u306e\u884c\u52d5\u304c\u898b\u3089\u308c\u308b\u3053\u3068\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\uff081p32-p31\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. NFIA\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u75c7\u72b6\u306e\u591a\u304f\u306f\u3001<strong>NFIA\u907a\u4f1d\u5b50<\/strong>\u304c\u7247\u65b9\u5931\u308f\u308c\u308b\u3053\u3068\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3067\u8aac\u660e\u304c\u3064\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8133\u3078\u306e\u4f5c\u7528:<\/strong> NFIA\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u80ce\u5150\u671f\u306e\u8133\u306b\u304a\u3044\u3066\u3001\u795e\u7d4c\u5e79\u7d30\u80de\u304c\u300c\u30b0\u30ea\u30a2\u7d30\u80de\uff08\u30a2\u30b9\u30c8\u30ed\u30b5\u30a4\u30c8\u306a\u3069\uff09\u300d\u306b\u5206\u5316\u3059\u308b\u30b9\u30a4\u30c3\u30c1\u3092\u5165\u308c\u308b\u5f79\u5272\u3092\u3057\u3066\u3044\u307e\u3059\u3002\u8133\u6881\u304c\u5f62\u6210\u3055\u308c\u308b\u306b\u306f\u3001\u307e\u305a\u30b0\u30ea\u30a2\u7d30\u80de\u304c\u6a4b\u6e21\u3057\u306e\u30ac\u30a4\u30c9\u5f79\u3092\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u304c\u3001NFIA\u304c\u4e0d\u8db3\u3059\u308b\u3068\u3053\u306e\u30ac\u30a4\u30c9\u304c\u4f5c\u3089\u308c\u305a\u3001\u795e\u7d4c\u7dda\u7dad\u304c\u5bfe\u5cb8\uff08\u53cd\u5bfe\u5074\u306e\u8133\uff09\u3078\u6e21\u308c\u306a\u304f\u306a\u3063\u3066\u3057\u307e\u3044\u307e\u3059\uff08\u3053\u308c\u304c\u8133\u6881\u6b20\u640d\u306e\u539f\u56e0\uff09\u3002<\/li>\n\n\n\n<li><strong>\u814e\u81d3\u3078\u306e\u4f5c\u7528:<\/strong> \u5c3f\u7ba1\u304c\u8180\u80f1\u306b\u6b63\u3057\u304f\u63a5\u7d9a\u3055\u308c\u308b\u30d7\u30ed\u30bb\u30b9\u306b\u3082\u95a2\u4e0e\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u4e0d\u8db3\u3059\u308b\u3068\u9006\u6d41\u75c7\u306a\u3069\u304c\u8d77\u3053\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>1p32-p31\u6b20\u5931\u75c7\u5019\u7fa4\u306e<strong>\u5927\u591a\u6570<\/strong>\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\uff08\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6642\u3001\u307e\u305f\u306f\u53d7\u7cbe\u76f4\u5f8c\uff09\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u975e\u5e38\u306b\u4f4e\u3044\uff08\u4e00\u822c\u96c6\u56e3\u3068\u540c\u7a0b\u5ea6\uff09\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u89aa\u306e\u8ee2\u5ea7\u306a\u3069\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7a00\u306b\u3001\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u304c\u91cf\u306f\u6b63\u5e38\uff09\u300d\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u5834\u5408\u3001\u6e1b\u6570\u5206\u88c2\u306e\u969b\u306b\u4e0d\u5747\u8861\u304c\u751f\u3058\u3001\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\u8133\u6881\u6b20\u640d\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u300c\u5927\u982d\u75c7\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u306a\u3069\u306e\u7d44\u307f\u5408\u308f\u305b\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>1p32-p31\u9818\u57df\u306e\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\u3068\u3001<em>NFIA<\/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>\u982d\u90e8MRI\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u6881\u306e\u72b6\u614b\uff08\u6b20\u640d\u3001\u4f4e\u5f62\u6210\uff09\u3001\u8133\u5ba4\u306e\u5927\u304d\u3055\u3001\u30ad\u30a2\u30ea\u5947\u5f62\u306e\u6709\u7121\u306a\u3069\u3092\u8a73\u7d30\u306b\u8a55\u4fa1\u3059\u308b\u305f\u3081\u306b\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8179\u90e8\u8d85\u97f3\u6ce2\uff08\u30a8\u30b3\u30fc\uff09\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u814e\u81d3\u306e\u5f62\u614b\u7570\u5e38\u3084\u6c34\u814e\u75c7\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\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\u3084\u907a\u4f1d\u5b50\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3001\u73fe\u6642\u70b9\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u80fd\u529b\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\u305f\u3081\u306e\u7642\u80b2\u7684\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u5b66\u7684\u30fb\u8133\u5916\u79d1\u7684\u6cbb\u7642<\/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>\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u3001\u8133\u6ce2\u691c\u67fb\u306b\u57fa\u3065\u304d\u9069\u5207\u306a\u6297\u3066\u3093\u304b\u3093\u85ac\u3092\u4f7f\u7528\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30ad\u30a2\u30ea\u5947\u5f62\u30fb\u810a\u9ac4\u4fc2\u7559\u75c7\u5019\u7fa4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u75c7\u72b6\uff08\u75db\u307f\u3001\u9ebb\u75fa\u3001\u6392\u5c3f\u969c\u5bb3\u306a\u3069\uff09\u304c\u3042\u308b\u5834\u5408\u3001\u8133\u795e\u7d4c\u5916\u79d1\u306b\u3088\u308b\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5b9a\u671f\u7684\u306aMRI\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6ccc\u5c3f\u5668\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8180\u80f1\u5c3f\u7ba1\u9006\u6d41\u75c7\uff08VUR\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u3067\u3042\u308c\u3070\u3001\u4e88\u9632\u7684\u306a\u6297\u751f\u7269\u8cea\u306e\u5185\u670d\u3092\u884c\u3044\u306a\u304c\u3089\u81ea\u7136\u6cbb\u7652\u3092\u5f85\u3061\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u91cd\u5ea6\u306e\u5834\u5408\u3084\u3001\u5c3f\u8def\u611f\u67d3\u75c7\u3092\u7e70\u308a\u8fd4\u3059\u5834\u5408\u306f\u3001\u9006\u6d41\u9632\u6b62\u306e\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002\u814e\u6a5f\u80fd\u3092\u5b88\u308b\u305f\u3081\u306b\u975e\u5e38\u306b\u91cd\u8981\u306a\u7ba1\u7406\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u5f8c\u65e9\u671f\u304b\u3089\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>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u5bfe\u3057\u3001\u4f53\u5e79\u3092\u935b\u3048\u3001\u5ea7\u308b\u30fb\u6b69\u304f\u3068\u3044\u3063\u305f\u7c97\u5927\u904b\u52d5\u306e\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u3092\u9ad8\u3081\u308b\u652f\u63f4\u3092\u884c\u3044\u307e\u3059\u3002\u8133\u6881\u6b20\u640d\u306e\u304a\u5b50\u3055\u3093\u306f\u3001\u8996\u899a\u7684\u306a\u60c5\u5831\u51e6\u7406\u304c\u5f97\u610f\u306a\u5834\u5408\u304c\u3042\u308b\u305f\u3081\u3001\u7d75\u30ab\u30fc\u30c9\u306a\u3069\u306e\u8996\u899a\u652f\u63f4\u304c\u6709\u52b9\u306a\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>\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u5408\u308f\u305b\u3001\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u3084\u7279\u5225\u652f\u63f4\u5b66\u6821\u306a\u3069\u3001\u500b\u5225\u306b\u9069\u3057\u305f\u6559\u80b2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5065\u5eb7\u7ba1\u7406\uff08\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b9a\u671f\u691c\u8a3a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8eab\u9577\u30fb\u4f53\u91cd\u30fb\u982d\u56f2\u306e\u8a08\u6e2c\u3092\u884c\u3044\u3001\u6210\u9577\u3092\u898b\u5b88\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5c3f\u691c\u67fb\u3092\u884c\u3044\u3001\u5c3f\u8def\u611f\u67d3\u75c7\u306e\u5146\u5019\u304c\u306a\u3044\u304b\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059\u3002\u539f\u56e0\u4e0d\u660e\u306e\u767a\u71b1\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u3059\u3050\u306b\u5c3f\u691c\u67fb\u3092\u884c\u3046\u3088\u3046\u6307\u5c0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3053\u306e\u75be\u60a3\u306f\u3001\u8133\u306e\u69cb\u9020\u7570\u5e38\u3092\u4f34\u3046\u305f\u3081\u3001\u3054\u5bb6\u65cf\u306e\u4e0d\u5b89\u306f\u5927\u304d\u3044\u3082\u306e\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8a3a\u65ad\u306e\u610f\u5473\u3001\u4e88\u5f8c\u306e\u898b\u901a\u3057\uff08\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3053\u3068\uff09\u3001\u6b21\u5b50\u306e\u518d\u767a\u30ea\u30b9\u30af\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>\u300c\u8133\u6881\u304c\u306a\u3044\u300d\u3068\u805e\u304f\u3068\u9a5a\u304b\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u8133\u6881\u6b20\u640d\u304c\u3042\u3063\u3066\u3082\u3001\u4ed6\u306e\u795e\u7d4c\u56de\u8def\u304c\u4ee3\u511f\u7684\u306b\u50cd\u304d\u3001\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u308c\u308b\u307e\u3067\u6210\u9577\u3059\u308b\u304a\u5b50\u3055\u3093\u3082\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u3002\u9577\u671f\u7684\u306a\u8996\u70b9\u3067\u306e\u30b5\u30dd\u30fc\u30c8\u8a08\u753b\u3092\u7acb\u3066\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>1p32-p31 deletion syndrome\u306f\u30011\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u3001\u7279\u306bNFIA\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u8133\u306e\u5de6\u53f3\u3092\u3064\u306a\u3050\u6a4b\uff08\u8133\u6881\uff09\u304c\u3046\u307e\u304f\u4f5c\u3089\u308c\u306a\u3044\u300d\u300c\u304a\u3057\u3063\u3053\u306e\u901a\u308a\u9053\uff08\u5c3f\u8def\uff09\u306e\u30c8\u30e9\u30d6\u30eb\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>MRI\u691c\u67fb\u3067\u8133\u306e\u5f62\u306e\u9055\u3044\u3092\u6307\u6458\u3055\u308c\u308b\u3068\u3001\u3054\u5bb6\u65cf\u306f\u5927\u5909\u30b7\u30e7\u30c3\u30af\u3092\u53d7\u3051\u3089\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u8133\u6881\u304c\u306a\u304f\u3066\u3082\u3001\u4eba\u9593\u306e\u8133\u306f\u9a5a\u304f\u3079\u304d\u9069\u5fdc\u80fd\u529b\uff08\u53ef\u5851\u6027\uff09\u3092\u6301\u3063\u3066\u304a\u308a\u3001\u5225\u306e\u30eb\u30fc\u30c8\u3092\u4f7f\u3063\u3066\u60c5\u5831\u306e\u3084\u308a\u53d6\u308a\u3092\u884c\u3046\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u7ba1\u7406\u3067\u7279\u306b\u5927\u5207\u306a\u306e\u306f\u3001\u300c\u5c3f\u8def\u611f\u67d3\u75c7\u306e\u4e88\u9632\uff08\u814e\u81d3\u3092\u5b88\u308b\u3053\u3068\uff09\u300d\u3068\u300c\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\uff08\u8133\u306e\u767a\u9054\u3092\u4fc3\u3059\u3053\u3068\uff09\u300d\u306e2\u70b9\u3067\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\u3067\u304d\u308b\u3053\u3068\u3092\u5897\u3084\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u5e2b\u3001\u30bb\u30e9\u30d4\u30b9\u30c8\u3001\u6559\u80b2\u8005\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u30e6\u30cb\u30fc\u30af\u306a\u6210\u9577\u3092\u6e29\u304b\u304f\u3001\u305d\u3057\u3066\u529b\u5f37\u304f\u30b5\u30dd\u30fc\u30c8\u3057\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>Koehler, K., et al.<\/strong> (2010). <em>Haploinsufficiency of the NFIA gene causes a recognizable malformation syndrome including corpus callosum abnormalities.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b1p31.3\u9818\u57df\u306e\u6b20\u5931\u304a\u3088\u3073NFIA\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u3001\u8133\u6881\u6b20\u640d\u3084\u5c3f\u8def\u5947\u5f62\u3092\u542b\u3080\u7279\u5fb4\u7684\u306a\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u660e\u78ba\u306b\u793a\u3057\u305f\u753b\u671f\u7684\u306a\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Labonne, J.D.J., et al.<\/strong> (2016). <em>Comparative deletion mapping at 1p31.3p32.2 implies NFIA haploinsufficiency as the main cause of corpus callosum defects.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b1p32-p31\u9818\u57df\u306e\u69d8\u3005\u306a\u6b20\u5931\u4f8b\u3092\u6bd4\u8f03\u89e3\u6790\u3057\u3001\u8133\u6881\u7570\u5e38\u306e\u4e3b\u539f\u56e0\u304cNFIA\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u3067\u3042\u308b\u3053\u3068\u3092\u88cf\u4ed8\u3051\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Lu, W., et al.<\/strong> (2007). <em>Disruption of the Nfia gene inhibits the generation of support cells and causes defects in the development of the corpus callosum and anterior commissure.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u30de\u30a6\u30b9\u30e2\u30c7\u30eb\u3092\u7528\u3044\u3066\u3001NFIA\u907a\u4f1d\u5b50\u304c\u8133\u6881\u3084\u30b0\u30ea\u30a2\u7d30\u80de\u306e\u767a\u9054\u306b\u4e0d\u53ef\u6b20\u3067\u3042\u308b\u3053\u3068\u3092\u8a3c\u660e\u3057\u305f\u57fa\u790e\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Rao, A., et al.<\/strong> (2014). <em>1p31.3 deletion syndrome: A recognizable entity?<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b1p31.3\u6b20\u5931\u3092\u6301\u3064\u60a3\u8005\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u5927\u982d\u75c7\u3001\u9854\u8c8c\u3001\u767a\u9054\u9045\u6ede\u306a\u3069\uff09\u3092\u8a73\u7d30\u306b\u5831\u544a\u3057\u3001\u75c7\u5019\u7fa4\u3068\u3057\u3066\u306e\u78ba\u7acb\u3092\u63d0\u5531\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>NFIA<\/em> (Haploinsufficiency score: 3 &#8211; Sufficient evidence).\n<ul class=\"wp-block-list\">\n<li>(\u203bNFIA\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff08\u6b20\u5931\uff09\u304c\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u306e\u79d1\u5b66\u7684\u6839\u62e0\u30ec\u30d9\u30eb\u3092\u8a55\u4fa1\u3057\u305f\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>1p31 deletions \/ 1p32 deletions<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306e\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> 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