{"id":17168,"date":"2026-01-21T07:40:24","date_gmt":"2026-01-21T07:40:24","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17168"},"modified":"2026-01-21T07:42:06","modified_gmt":"2026-01-21T07:42:06","slug":"8p11-2-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/8p11-2-deletion-syndrome\/","title":{"rendered":"8p11.2 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>8p11.2\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>8p11.2\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff088p11.2 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>8p11.2\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 8p11.2\uff09<\/li>\n\n\n\n<li>\u7403\u72b6\u8d64\u8840\u7403\u75c7-\u30ab\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\uff08Spherocytosis-Kallmann syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75c7\u5019\u7fa4\u306e\u6700\u3082\u7279\u5fb4\u7684\u306a\u5408\u4f75\u75c7\u306e\u7d44\u307f\u5408\u308f\u305b\u3092\u793a\u3059\u540d\u79f0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u30ab\u30eb\u30de\u30f3\u75c7\u5019\u7fa4 2\u578b\uff08Kallmann syndrome 2; KAL2\uff09\u3092\u542b\u3080\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u907a\u4f1d\u6027\u7403\u72b6\u8d64\u8840\u7403\u75c7\uff08Hereditary Spherocytosis type 1; HS1\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a8p11\u9aa8\u9ac4\u5897\u6b96\u6027\u75c7\u5019\u7fa4\uff088p11 Myeloproliferative syndrome \/ EMS\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u6ce8\u610f\uff1a\u3053\u308c\u306f\u4e3b\u306b\u300c\u8ee2\u5ea7\u300d\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u8840\u6db2\u816b\u760d\u6027\u306e\u75be\u60a3\u3067\u3042\u308a\u3001\u672c\u7a3f\u306e\u300c\u5148\u5929\u6027\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u306f\u533a\u5225\u304c\u5fc5\u8981\u3067\u3059\u304c\u3001\u691c\u7d22\u6642\u306b\u6df7\u540c\u3057\u3084\u3059\u3044\u305f\u3081\u8a18\u8f09\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>8\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0911.2\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e8\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306e\u4ed8\u3051\u6839\u306b\u8fd1\u3044\u300c11.2\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\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d\u3011<\/p>\n\n\n\n<p>8p11.2\u9818\u57df\u306f\u3001\u81e8\u5e8a\u7684\u306b\u975e\u5e38\u306b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u5bc6\u96c6\u3057\u3066\u3044\u308b\u30db\u30c3\u30c8\u30b9\u30dd\u30c3\u30c8\u3067\u3059\u3002\u3053\u306e\u9818\u57df\u306e\u6b20\u5931\u306f\u3001\u5358\u4e00\u306e\u907a\u4f1d\u5b50\u75be\u60a3\u3067\u306f\u306a\u304f\u3001\u96a3\u308a\u5408\u3046\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c\u307e\u3068\u3081\u3066\u5931\u308f\u308c\u308b\u3053\u3068\u306b\u3088\u308b**\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff08Contiguous gene syndrome\uff09\u300d**\u306e\u4ee3\u8868\u4f8b\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b20\u5931\u7bc4\u56f2\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u4e3b\u306b\u4ee5\u4e0b\u306e2\u3064\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u308b\u304b\u3069\u3046\u304b\u304c\u3001\u75c7\u72b6\u3092\u6c7a\u5b9a\u3065\u3051\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\uff08\u8cac\u4efb\u907a\u4f1d\u5b50\uff09\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>FGFR1 (Fibroblast Growth Factor Receptor 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> \u7d30\u80de\u306e\u6210\u9577\u3001\u79fb\u52d5\u3001\u5206\u5316\u3092\u8abf\u7bc0\u3059\u308b\u53d7\u5bb9\u4f53\u3067\u3059\u3002\u7279\u306b\u80ce\u5150\u671f\u306b\u304a\u3044\u3066\u3001\u55c5\u795e\u7d4c\uff08\u306b\u304a\u3044\u3092\u611f\u3058\u308b\u795e\u7d4c\uff09\u3084GnRH\u30cb\u30e5\u30fc\u30ed\u30f3\uff08\u6027\u30db\u30eb\u30e2\u30f3\u3092\u51fa\u3059\u6307\u4ee4\u5854\uff09\u304c\u8133\u306e\u6b63\u3057\u3044\u5834\u6240\u306b\u79fb\u52d5\u3059\u308b\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u307e\u305f\u3001\u9aa8\u683c\u3084\u53e3\u84cb\u306e\u5f62\u6210\u306b\u3082\u95a2\u308f\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong> <strong>\u30ab\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\uff08\u55c5\u899a\u8131\u5931\u30fb\u6027\u817a\u6a5f\u80fd\u4e0d\u5168\uff09<\/strong>\u3001\u53e3\u5507\u53e3\u84cb\u88c2\u3001\u624b\u306e\u7570\u5e38\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ANK1 (Ankyrin 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> \u8d64\u8840\u7403\u306e\u819c\u3092\u5185\u5074\u304b\u3089\u652f\u3048\u308b\u300c\u30a2\u30f3\u30ad\u30ea\u30f3\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002\u8d64\u8840\u7403\u304c\u72ed\u3044\u8840\u7ba1\u3092\u901a\u308b\u305f\u3081\u306b\u5fc5\u8981\u306a\u300c\u67d4\u8edf\u6027\u300d\u3068\u300c\u6955\u5186\u5f62\u306e\u5f62\u72b6\u300d\u3092\u7dad\u6301\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong> \u8d64\u8840\u7403\u306e\u819c\u304c\u5f31\u304f\u306a\u308a\u3001\u4e38\u3044\u5f62\uff08\u7403\u72b6\uff09\u306b\u306a\u3063\u3066\u58ca\u308c\u3084\u3059\u304f\u306a\u308b**\u907a\u4f1d\u6027\u7403\u72b6\u8d64\u8840\u7403\u75c7\uff08\u6eb6\u8840\u6027\u8ca7\u8840\uff09**\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>KAT6A (Lysine Acetyltransferase 6A):<\/strong> 8p11.21\u306b\u4f4d\u7f6e\u3002\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> \u907a\u4f1d\u5b50\u306e\u767a\u73fe\u3092\u8abf\u7bc0\u3059\u308b\u30af\u30ed\u30de\u30c1\u30f3\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\u56e0\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u307e\u3067\u6b20\u5931\u7bc4\u56f2\u304c\u53ca\u3076\u3068\u3001<strong>\u77e5\u7684\u969c\u5bb3<\/strong>\u3084\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u5fc3\u75be\u60a3\u306a\u3069\u304c\u5408\u4f75\u3059\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u304f\u306a\u308a\u307e\u3059\uff08Arboleda-Tham\u75c7\u5019\u7fa4\u3068\u306e\u91cd\u8907\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>\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>\u305d\u308c\u305e\u308c\u306e\u5358\u4e00\u75be\u60a3\u3068\u3057\u3066\u306e\u983b\u5ea6\u306f\u3001\u907a\u4f1d\u6027\u7403\u72b6\u8d64\u8840\u7403\u75c7\u304c\u6570\u5343\u4eba\u306b1\u4eba\u3001\u30ab\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u304c\u6570\u4e07\u4eba\u306b1\u4eba\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u308c\u3089\u304c\u5408\u4f75\u3059\u308b\u300c8p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u3057\u3066\u306e\u5831\u544a\u6570\u306f\u4e16\u754c\u7684\u306b\u898b\u3066\u3082\u6570\u5341\u4f8b\u898f\u6a21\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7406\u7531\u306b\u3088\u308b**\u300c\u904e\u5c11\u8a3a\u65ad\uff08Underdiagnosis\uff09\u300d**\u306e\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u75c7\u72b6\u306e\u767a\u73fe\u6642\u671f\u306e\u30ba\u30ec:<\/strong> \u7403\u72b6\u8d64\u8840\u7403\u75c7\uff08\u8ca7\u8840\uff09\u306f\u4e73\u5150\u671f\u304b\u3089\u5206\u304b\u308a\u307e\u3059\u304c\u3001\u30ab\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\uff08\u601d\u6625\u671f\u9045\u767a\uff09\u306f\u4e2d\u5b66\u751f\u4ee5\u964d\u306b\u306a\u3089\u306a\u3044\u3068\u6c17\u3065\u304b\u308c\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u3001\u5c0f\u5150\u671f\u306b\u306f\u5358\u306a\u308b\u300c\u8ca7\u8840\u306e\u5b50\u300d\u3068\u3057\u3066\u6271\u308f\u308c\u3001\u67d3\u8272\u4f53\u691c\u67fb\u306b\u81f3\u3063\u3066\u3044\u306a\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u691c\u67fb\u6280\u8853:<\/strong> \u4e00\u822c\u7684\u306aG\u30d0\u30f3\u30c9\u67d3\u8272\u4f53\u691c\u67fb\u3067\u306f\u898b\u9003\u3055\u308c\u308b\u5fae\u7d30\u306a\u6b20\u5931\u3067\u3042\u308a\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u6027\u5225\u306b\u3088\u308b\u767a\u751f\u983b\u5ea6\u306e\u5dee\u306f\u306a\u304f\u3001\u7537\u5150\u306b\u3082\u5973\u5150\u306b\u3082\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>8p11.2 deletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u30ab\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\uff08\u5185\u5206\u6ccc\u30fb\u611f\u899a\uff09\u300d<strong>\u3068<\/strong>\u300c\u7403\u72b6\u8d64\u8840\u7403\u75c7\u306e\u75c7\u72b6\uff08\u8840\u6db2\uff09\u300d**\u306e\u5408\u4f75\u304c\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002\u3053\u308c\u306b\u52a0\u3048\u3066\u3001\u9aa8\u683c\u7570\u5e38\u3084\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5185\u5206\u6ccc\u30fb\u751f\u6b96\u5668\u75c7\u72b6\uff08FGFR1\u95a2\u9023\uff09<\/strong><\/p>\n\n\n\n<p>\u601d\u6625\u671f\u4ee5\u964d\u306b\u554f\u984c\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u8a3a\u65ad\u306e\u5951\u6a5f\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u30b4\u30ca\u30c9\u30c8\u30ed\u30d4\u30f3\u6027\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\uff08Hypogonadotropic Hypogonadism\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u8996\u5e8a\u4e0b\u90e8\u304b\u3089\u6027\u30db\u30eb\u30e2\u30f3\u3092\u51fa\u3059\u6307\u4ee4\uff08GnRH\uff09\u304c\u51fa\u306a\u3044\u305f\u3081\u3001\u6027\u30db\u30eb\u30e2\u30f3\uff08\u30c6\u30b9\u30c8\u30b9\u30c6\u30ed\u30f3\u3084\u30a8\u30b9\u30c8\u30ed\u30b2\u30f3\uff09\u304c\u4f5c\u3089\u308c\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u7b2c\u4e8c\u6b21\u6027\u5fb4\u306e\u6b20\u5982:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7537\u6027\uff1a\u58f0\u5909\u308f\u308a\u3057\u306a\u3044\u3001\u9aed\u304c\u751f\u3048\u306a\u3044\u3001\u7cbe\u5de3\u304c\u5c0f\u3055\u3044\u307e\u307e\u3002<\/li>\n\n\n\n<li>\u5973\u6027\uff1a\u4e73\u623f\u304c\u767a\u9054\u3057\u306a\u3044\u3001\u521d\u6f6e\u304c\u6765\u306a\u3044\uff08\u539f\u767a\u6027\u7121\u6708\u7d4c\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5916\u6027\u5668\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7537\u5150\u3067\u306f\u3001\u505c\u7559\u7cbe\u5de3\uff08\u30bf\u30de\u304c\u964d\u308a\u3066\u3053\u306a\u3044\uff09\u3084\u5c0f\u9670\u830e\uff08\u30de\u30a4\u30af\u30ed\u30da\u30cb\u30b9\uff09\u304c\u51fa\u751f\u6642\u306b\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. \u611f\u899a\u5668\u75c7\u72b6\uff08FGFR1\u95a2\u9023\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u55c5\u899a\u8131\u5931\u30fb\u4f4e\u4e0b\uff08Anosmia \/ Hyposmia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u30ab\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u306e\u4e2d\u6838\u75c7\u72b6<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u751f\u307e\u308c\u3064\u304d\u300c\u306b\u304a\u3044\u300d\u304c\u5206\u304b\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u55c5\u795e\u7d4c\uff08\u8133\u306e\u55c5\u7403\uff09\u304c\u5f62\u6210\u3055\u308c\u306a\u3044\u305f\u3081\u3067\u3059\u3002MRI\u691c\u67fb\u3067\u55c5\u7403\u306e\u6b20\u640d\u304c\u78ba\u8a8d\u3067\u304d\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u672c\u4eba\u306f\u751f\u307e\u308c\u3064\u304d\u306e\u305f\u3081\u81ea\u899a\u304c\u306a\u3044\u3053\u3068\u304c\u591a\u304f\u3001\u300c\u306b\u304a\u3044\u304c\u5206\u304b\u3089\u306a\u3044\u300d\u3068\u8a34\u3048\u308b\u3053\u3068\u306f\u7a00\u3067\u3059\u3002\u55c5\u899a\u30c6\u30b9\u30c8\u3067\u521d\u3081\u3066\u5224\u660e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u8840\u6db2\u75c7\u72b6\uff08ANK1\u95a2\u9023\uff09<\/strong><\/p>\n\n\n\n<p>\u4e73\u5e7c\u5150\u671f\u304b\u3089\u75c7\u72b6\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u6027\u7403\u72b6\u8d64\u8840\u7403\u75c7\uff08Hereditary Spherocytosis\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6eb6\u8840\u6027\u8ca7\u8840:<\/strong> \u8d64\u8840\u7403\u304c\u58ca\u308c\u3084\u3059\u3044\u305f\u3081\u3001\u8ca7\u8840\u306b\u306a\u308a\u307e\u3059\u3002\u9854\u8272\u304c\u60aa\u3044\u3001\u75b2\u308c\u3084\u3059\u3044\u3001\u606f\u5207\u308c\u306a\u3069\u306e\u75c7\u72b6\u304c\u51fa\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9ec4\u75b8:<\/strong> \u8d64\u8840\u7403\u304c\u58ca\u308c\u305f\u6210\u5206\uff08\u30d3\u30ea\u30eb\u30d3\u30f3\uff09\u306b\u3088\u308a\u3001\u76ae\u819a\u3084\u767d\u76ee\u304c\u9ec4\u8272\u304f\u306a\u308a\u307e\u3059\u3002\u65b0\u751f\u5150\u671f\u306b\u5f37\u3044\u9ec4\u75b8\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u813e\u816b\uff08Splenomegaly\uff09\uff1a<\/strong> \u58ca\u308c\u305f\u8d64\u8840\u7403\u3092\u51e6\u7406\u3059\u308b\u305f\u3081\u306b\u813e\u81d3\u304c\u816b\u308c\u3066\u5927\u304d\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u80c6\u77f3:<\/strong> \u30d3\u30ea\u30eb\u30d3\u30f3\u304c\u5897\u3048\u308b\u305f\u3081\u3001\u82e5\u5e74\uff08\u5c0f\u5150\u301c\u9752\u5e74\u671f\uff09\u3067\u80c6\u77f3\u304c\u3067\u304d\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u982d\u84cb\u9854\u9762\u30fb\u9aa8\u683c\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<p><em>FGFR1<\/em>\u907a\u4f1d\u5b50\u306f\u9aa8\u306e\u5f62\u6210\u306b\u3082\u95a2\u308f\u308b\u305f\u3081\u3001\u7279\u5fb4\u7684\u306a\u8eab\u4f53\u6240\u898b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53e3\u5507\u88c2\u30fb\u53e3\u84cb\u88c2:<\/strong> \u5507\u3084\u53e3\u306e\u4e2d\u306e\u5929\u4e95\u304c\u5272\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u306e\u7570\u5e38:<\/strong> \u6b6f\u304c\u8db3\u308a\u306a\u3044\uff08\u6b20\u640d\u6b6f\uff09\u3002<\/li>\n\n\n\n<li><strong>\u624b\u306e\u7570\u5e38:<\/strong> \u624b\u6307\u77ed\u7e2e\u75c7\uff08\u6307\u304c\u77ed\u3044\uff09\u3001\u5408\u6307\u75c7\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u9854\u8c8c:<\/strong> \u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3001\u8033\u306e\u4f4d\u7f6e\u7570\u5e38\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u6b20\u5931\u7bc4\u56f2\u306e\u5927\u304d\u3055\u306b\u3088\u3063\u3066\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u767a\u9054:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u304c<em>FGFR1<\/em>\u3068<em>ANK1<\/em>\u306b\u9650\u5c40\u3057\u3066\u3044\u308b\u5834\u5408\u3001<strong>\u77e5\u80fd\u306f\u6b63\u5e38<\/strong>\u3067\u3042\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3057\u304b\u3057\u3001\u6b20\u5931\u304c\u8fd1\u4f4d\uff08<em>KAT6A<\/em>\u306a\u3069\uff09\u3084\u9060\u4f4d\u306b\u5e83\u304c\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3084\u5b66\u7fd2\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u96e3\u8074\u3084\u3001\u307e\u308c\u306b\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>8\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff088p11.2\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u30b1\u30fc\u30b9\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\uff09\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08Inherited\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\uff09\u300d\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u5b50\u306b\u4e0d\u5747\u8861\u306a\u6b20\u5931\u3068\u3057\u3066\u907a\u4f1d\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u307e\u305f\u3001\u89aa\u81ea\u8eab\u3082\u5fae\u7d30\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u308b\u304c\u75c7\u72b6\u304c\u8efd\u304f\uff08\u55c5\u899a\u4f4e\u4e0b\u306e\u307f\u306a\u3069\uff09\u3001\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u30cf\u30d7\u30ed\u4e0d\u5168\uff08Haploinsufficiency\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><em>FGFR1<\/em>\u3084<em>ANK1<\/em>\u3068\u3044\u3063\u305f\u907a\u4f1d\u5b50\u306f\u30012\u672c\u3042\u308b\u3046\u3061\u306e1\u672c\u304c\u6b20\u3051\u3066\u91cf\u304c\u534a\u5206\u306b\u306a\u308b\u3060\u3051\u3067\u3001\u6b63\u5e38\u306a\u6a5f\u80fd\u3092\u7dad\u6301\u3067\u304d\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>FGFR1:<\/strong> \u91cf\u304c\u8db3\u308a\u306a\u3044\u3068\u3001\u80ce\u5150\u671f\u306b\u795e\u7d4c\u7d30\u80de\u304c\u76ee\u7684\u5730\u307e\u3067\u79fb\u52d5\u3067\u304d\u305a\u3001\u55c5\u899a\u3084\u6027\u817a\u6a5f\u80fd\u306e\u56de\u8def\u304c\u3064\u306a\u304c\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>ANK1:<\/strong> \u91cf\u304c\u8db3\u308a\u306a\u3044\u3068\u3001\u8d64\u8840\u7403\u306e\u819c\u3092\u652f\u3048\u308b\u67f1\u304c\u4e0d\u8db3\u3057\u3001\u8d64\u8840\u7403\u304c\u7403\u5f62\u306b\u5909\u5f62\u3057\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u300c\u8ca7\u8840\uff08\u7403\u72b6\u8d64\u8840\u7403\u75c7\uff09\u300d\u3068\u300c\u6027\u767a\u9054\u306e\u9045\u308c\/\u55c5\u899a\u8131\u5931\u300d\u306e\u7d44\u307f\u5408\u308f\u305b\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u304c\u3001\u5e74\u9f62\u306b\u3088\u3063\u3066\u8a3a\u65ad\u306e\u5165\u308a\u53e3\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8840\u6db2\u691c\u67fb\u30fb\u8d64\u8840\u7403\u5f62\u614b\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u5150\u671f\u306b\u306f\u3001\u307e\u305a\u8ca7\u8840\u306e\u7cbe\u67fb\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8840\u6db2\u5857\u62b9\u6a19\u672c\u3067\u300c\u7403\u72b6\u8d64\u8840\u7403\u300d\u304c\u78ba\u8a8d\u3055\u308c\u3001\u6d78\u900f\u5727\u8106\u5f31\u6027\u8a66\u9a13\u306a\u3069\u3067\u907a\u4f1d\u6027\u7403\u72b6\u8d64\u8840\u7403\u75c7\u3068\u8a3a\u65ad\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u901a\u5e38\u306e\u7403\u72b6\u8d64\u8840\u7403\u75c7\u3067\u3042\u308c\u3070<em>ANK1<\/em>\u306a\u3069\u306e\u70b9\u5909\u7570\u304c\u539f\u56e0\u3067\u3059\u304c\u3001**\u300c\u3053\u308c\u306b\u52a0\u3048\u3066\u9854\u7acb\u3061\u306e\u7279\u5fb4\u3084\u767a\u9054\u306e\u9045\u308c\u304c\u3042\u308b\u5834\u5408\u300d**\u306b\u3001\u67d3\u8272\u4f53\u6b20\u5931\u3092\u7591\u3046\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5185\u5206\u6ccc\u5b66\u7684\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u601d\u6625\u671f\u306b\u306a\u3063\u3066\u3082\u4e8c\u6b21\u6027\u5fb4\u304c\u6765\u306a\u3044\u5834\u5408\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6027\u30db\u30eb\u30e2\u30f3\uff08\u30c6\u30b9\u30c8\u30b9\u30c6\u30ed\u30f3\/\u30a8\u30b9\u30c8\u30ed\u30b2\u30f3\uff09\u304c\u4f4e\u304f\u3001\u304b\u3064\u8133\u4e0b\u5782\u4f53\u30db\u30eb\u30e2\u30f3\uff08LH\/FSH\uff09\u3082\u4f4e\u3044\uff08\u53cd\u5fdc\u3057\u3066\u3044\u306a\u3044\uff09\u4f4e\u30b4\u30ca\u30c9\u30c8\u30ed\u30d4\u30f3\u6027\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u55c5\u899a\u691c\u67fb\u30fbMRI:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30a2\u30ea\u30ca\u30df\u30f3\u9759\u6ce8\u30c6\u30b9\u30c8\u3084\u55c5\u899a\u540c\u5b9a\u691c\u67fb\u3092\u884c\u3044\u3001\u7121\u55c5\u899a\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u982d\u90e8MRI\u3067\u55c5\u7403\u30fb\u55c5\u7b56\u306e\u4f4e\u5f62\u6210\u3084\u6b20\u640d\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b**\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff08\u7b2c\u4e00\u9078\u629e\uff09**\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>8p11.2\u9818\u57df\u306e\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u7bc4\u56f2\u306b<em>FGFR1<\/em>\u3068<em>ANK1<\/em>\u306e\u4e21\u65b9\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u3053\u3068\u3092\u8a3c\u660e\u3057\u307e\u3059\u3002\u3053\u308c\u3067\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\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\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\uff08\u8ca7\u8840\u3001\u30db\u30eb\u30e2\u30f3\u4e0d\u8db3\uff09\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002\u5404\u5c02\u9580\u79d1\uff08\u8840\u6db2\u5185\u79d1\u3001\u5185\u5206\u6ccc\u5185\u79d1\u3001\u5c0f\u5150\u79d1\uff09\u306e\u9023\u643a\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u8840\u6db2\u5b66\u7684\u7ba1\u7406\uff08\u7403\u72b6\u8d64\u8840\u7403\u75c7\u306b\u5bfe\u3057\u3066\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8ca7\u8840\u306e\u7ba1\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u3067\u3042\u308c\u3070\u7d4c\u904e\u89b3\u5bdf\u306e\u307f\u3067\u3059\u304c\u3001\u91cd\u5ea6\u306e\u8ca7\u8840\u3084\u9ec4\u75b8\u304c\u3042\u308b\u5834\u5408\u306f\u8f38\u8840\u3092\u884c\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8449\u9178\u306e\u88dc\u5145\u3092\u884c\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\uff08\u8d64\u8840\u7403\u3092\u4f5c\u308b\u305f\u3081\u306b\u5fc5\u8981\u306a\u305f\u3081\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u813e\u81d3\u6458\u51fa\u8853\uff08\u6458\u813e\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8ca7\u8840\u304c\u91cd\u5ea6\u306e\u5834\u5408\u3084\u3001\u80c6\u77f3\u306a\u3069\u306e\u5408\u4f75\u75c7\u304c\u3042\u308b\u5834\u5408\u3001\u8d64\u8840\u7403\u3092\u7834\u58ca\u3057\u3066\u3044\u308b\u813e\u81d3\u3092\u624b\u8853\u3067\u6458\u51fa\u3059\u308b\u3053\u3068\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u514d\u75ab\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3059\u308b\u305f\u3081\u3001\u901a\u5e38\u306f5\u301c6\u6b73\u4ee5\u964d\u306b\u884c\u3044\u3001\u8853\u5f8c\u306f\u80ba\u708e\u7403\u83cc\u306a\u3069\u306e\u30ef\u30af\u30c1\u30f3\u63a5\u7a2e\u3084\u611f\u67d3\u4e88\u9632\u304c\u91cd\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5185\u5206\u6ccc\u5b66\u7684\u7ba1\u7406\uff08\u30ab\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u306b\u5bfe\u3057\u3066\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u7642\u6cd5\uff08\u7b2c\u4e8c\u6b21\u6027\u5fb4\u306e\u8a98\u5c0e\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u601d\u6625\u671f\u306e\u5e74\u9f62\uff08\u4e2d\u5b66\u751f\u9803\u301c\uff09\u306b\u306a\u3063\u305f\u3089\u3001\u6027\u30db\u30eb\u30e2\u30f3\uff08\u7537\u6027\u30db\u30eb\u30e2\u30f3\u307e\u305f\u306f\u5973\u6027\u30db\u30eb\u30e2\u30f3\uff09\u3092\u5c11\u3057\u305a\u3064\u6295\u4e0e\u3057\u3001\u4eba\u5de5\u7684\u306b\u7b2c\u4e8c\u6b21\u6027\u5fb4\u3092\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306b\u3088\u308a\u3001\u8eab\u4f53\u7684\u306a\u6210\u719f\u3060\u3051\u3067\u306a\u304f\u3001\u9aa8\u7c97\u9b06\u75c7\u306e\u4e88\u9632\u3084\u5fc3\u7406\u7684\u306a\u81ea\u4fe1\u306e\u56de\u5fa9\u3092\u56f3\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u598a\u5b55\u6027\uff08\u598a\u5a20\u80fd\u529b\uff09\u306e\u7372\u5f97:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c06\u6765\u3001\u5b50\u3069\u3082\u3092\u671b\u3080\u5834\u5408\u306b\u306f\u3001\u30b4\u30ca\u30c9\u30c8\u30ed\u30d4\u30f3\u7642\u6cd5\uff08hCG\/FSH\u6ce8\u5c04\uff09\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u7cbe\u5b50\u5f62\u6210\u3084\u6392\u5375\u3092\u8a98\u5c0e\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u591a\u304f\u306e\u30ab\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u60a3\u8005\u3055\u3093\u304c\u6319\u5150\u3092\u5f97\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53e3\u5507\u53e3\u84cb\u88c2:<\/strong> \u5f62\u6210\u5916\u79d1\u306b\u3088\u308b\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u505c\u7559\u7cbe\u5de3:<\/strong> \u6ccc\u5c3f\u5668\u79d1\u306b\u3088\u308b\u56fa\u5b9a\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u767a\u9054\u30fb\u5fc3\u7406\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u3084\u5b66\u7fd2\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u3001\u7642\u80b2\u3084\u7279\u5225\u652f\u63f4\u6559\u80b2\u3092\u6d3b\u7528\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5fc3\u7406\u7684\u30b1\u30a2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u300c\u306b\u304a\u3044\u304c\u5206\u304b\u3089\u306a\u3044\uff08\u98a8\u5473\u3092\u697d\u3057\u3081\u306a\u3044\u3001\u30ac\u30b9\u6f0f\u308c\u306b\u6c17\u3065\u304b\u306a\u3044\uff09\u300d\u3053\u3068\u3078\u306e\u751f\u6d3b\u4e0a\u306e\u5de5\u592b\u3084\u5b89\u5168\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u601d\u6625\u671f\u306e\u8eab\u4f53\u7684\u5909\u5316\u306e\u9045\u308c\u306f\u3001\u81ea\u5c0a\u5fc3\u306b\u5927\u304d\u304f\u5f71\u97ff\u3057\u307e\u3059\u3002\u30db\u30eb\u30e2\u30f3\u6cbb\u7642\u306e\u898b\u901a\u3057\u3092\u4f1d\u3048\u3001\u5fc3\u7406\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3046\u3053\u3068\u304c\u91cd\u8981\u3067\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><strong>\u60c5\u5831\u306e\u6574\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u300c\u8ca7\u8840\u300d\u3068\u300c\u30db\u30eb\u30e2\u30f3\u300d\u3068\u3044\u3046\u5225\u3005\u306e\u75c5\u6c17\u304c\u3001\u5b9f\u306f\u4e00\u3064\u306e\u539f\u56e0\u3067\u8d77\u304d\u3066\u3044\u308b\u3053\u3068\u3092\u7406\u89e3\u3067\u304d\u308b\u3088\u3046\u8aac\u660e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u3078\u306e\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\uff08\u89aa\u306e\u8ee2\u5ea7\u306e\u6709\u7121\u306b\u3088\u308b\uff09\u3084\u3001\u5c06\u6765\u60a3\u8005\u3055\u3093\u81ea\u8eab\u304c\u5b50\u3069\u3082\u3092\u6301\u3064\u969b\u306e\u30ea\u30b9\u30af\uff0850%\u306e\u78ba\u7387\u3067\u907a\u4f1d\u3059\u308b\uff09\u306b\u3064\u3044\u3066\u76f8\u8ac7\u306b\u4e57\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>8p11.2 deletion syndrome\u306f\u30018\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u8907\u5408\u7684\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u5927\u304d\u306a\u7279\u5fb4\u306f\u3001\u300c\u8840\u6db2\u306e\u75c7\u72b6\uff08\u8ca7\u8840\uff09\u300d\u3068\u300c\u30db\u30eb\u30e2\u30f3\u306e\u75c7\u72b6\uff08\u601d\u6625\u671f\u304c\u6765\u306a\u3044\uff09\u300d\u3068\u3044\u3046\u3001\u4e00\u898b\u95a2\u4fc2\u306a\u3055\u305d\u3046\u306a2\u3064\u306e\u554f\u984c\u304c\u30bb\u30c3\u30c8\u3067\u8d77\u3053\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u3001\u67d3\u8272\u4f53\u306e\u4e0a\u3067\u3001\u8d64\u8840\u7403\u306e\u5f62\u3092\u5b88\u308b\u907a\u4f1d\u5b50\uff08ANK1\uff09\u3068\u3001\u4f53\u306e\u6210\u9577\u3084\u601d\u6625\u671f\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u5165\u308c\u308b\u907a\u4f1d\u5b50\uff08FGFR1\uff09\u304c\u3001\u304a\u96a3\u540c\u58eb\u3067\u4e26\u3093\u3067\u3044\u308b\u305f\u3081\u306b\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u3055\u3044\u9803\u306f\u3001\u8ca7\u8840\u3084\u9ec4\u75b8\u306e\u6cbb\u7642\u304c\u4e2d\u5fc3\u306b\u306a\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u813e\u81d3\u306e\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u306b\u3088\u3063\u3066\u8ca7\u8840\u306f\u5287\u7684\u306b\u6539\u5584\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u3057\u3066\u6210\u9577\u3057\u3066\u4e2d\u5b66\u751f\u304f\u3089\u3044\u306b\u306a\u308b\u3068\u3001\u300c\u5468\u308a\u306e\u5b50\u3088\u308a\u80cc\u306e\u4f38\u3073\u3084\u58f0\u5909\u308f\u308a\u304c\u3086\u3063\u304f\u308a\u3060\u306a\u300d\u3068\u611f\u3058\u308b\u3053\u3068\u304c\u3042\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u306b\u304a\u3044\u304c\u5206\u304b\u308a\u306b\u304f\u3044\u3053\u3068\u306b\u6c17\u3065\u304f\u306e\u3082\u3053\u306e\u9803\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u3084\u3054\u672c\u4eba\u306f\u4e0d\u5b89\u306b\u601d\u308f\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u73fe\u4ee3\u306e\u533b\u7642\u3067\u306f\u3001\u8db3\u308a\u306a\u3044\u30db\u30eb\u30e2\u30f3\u3092\u88dc\u5145\u3059\u308b\u3053\u3068\u3067\u3001\u5927\u4eba\u3068\u3057\u3066\u306e\u4f53\u3064\u304d\u306b\u6210\u9577\u3055\u305b\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u5c06\u6765\u7684\u306b\u8d64\u3061\u3083\u3093\u3092\u6388\u304b\u308b\u3053\u3068\u3082\u3001\u6cbb\u7642\u306b\u3088\u3063\u3066\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u77e5\u7684\u306a\u767a\u9054\u306b\u3064\u3044\u3066\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u6b63\u5e38\u7bc4\u56f2\u306e\u65b9\u3082\u591a\u304f\u3001\u793e\u4f1a\u3067\u6d3b\u8e8d\u3055\u308c\u3066\u3044\u308b\u65b9\u3082\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5927\u5207\u306a\u306e\u306f\u3001\u8840\u6db2\u5185\u79d1\u3068\u5185\u5206\u6ccc\u5185\u79d1\u3068\u3044\u3046\u7570\u306a\u308b\u5c02\u9580\u5bb6\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u7d99\u7d9a\u7684\u306b\u53d7\u3051\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u8ca7\u8840\u300d\u3068\u300c\u6210\u9577\u300d\u3001\u305d\u308c\u305e\u308c\u306e\u30e9\u30a4\u30d5\u30b9\u30c6\u30fc\u30b8\u306b\u5408\u308f\u305b\u305f\u30b1\u30a2\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u5065\u5eb7\u3067\u5145\u5b9f\u3057\u305f\u4eba\u751f\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5c02\u9580\u533b\u3001\u305d\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u9577\u3044\u4eba\u751f\u3092\u3001\u4e00\u3064\u3072\u3068\u3064\u4e01\u5be7\u306b\u652f\u3048\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Gallagher, P.G., et al.<\/strong> (2020). <em>Hereditary Spherocytosis.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u907a\u4f1d\u6027\u7403\u72b6\u8d64\u8840\u7403\u75c7\u306e\u7dcf\u8aac\u3002ANK1\u907a\u4f1d\u5b50\u5909\u7570\u3060\u3051\u3067\u306a\u304f\u30018p11.2\u6b20\u5931\u306b\u3088\u308b\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3068\u3057\u3066\u306e\u75c5\u614b\u306b\u3064\u3044\u3066\u3082\u8a00\u53ca\u3042\u308a\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Dod\u00e9, C., et al.<\/strong> (2003). <em>Kallmann syndrome: fibroblast growth factor signaling insufficiency?<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bFGFR1\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u4e0d\u5168\u304c\u30ab\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u3092\u5f15\u304d\u8d77\u3053\u3059\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u8a73\u7d30\u306b\u89e3\u8aac\u3057\u305f\u91cd\u8981\u8ad6\u6587\u30028p11\u6b20\u5931\u4f8b\u306b\u3064\u3044\u3066\u3082\u89e6\u308c\u3089\u308c\u3066\u3044\u308b\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Del Castillo, I., et al.<\/strong> (1992). <em>A microdeletion encompassing the FGFR1 and ANK1 genes in a patient with Kallmann syndrome and hereditary spherocytosis.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u30ab\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u3068\u907a\u4f1d\u6027\u7403\u72b6\u8d64\u8840\u7403\u75c7\u3092\u5408\u4f75\u3057\u305f\u60a3\u8005\u306b\u304a\u3044\u3066\u30018p11.2\u9818\u57df\u306e\u5fae\u7d30\u6b20\u5931\uff08FGFR1\u3068ANK1\u306e\u540c\u6642\u6b20\u5931\uff09\u3092\u521d\u3081\u3066\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u306b\u8a3c\u660e\u3057\u305f\u6b74\u53f2\u7684\u306a\u75c7\u4f8b\u5831\u544a\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Matyakhina, L., et al.<\/strong> (2007). <em>Genotype-phenotype correlation in a patient with a &#8220;balanced&#8221; translocation t(8;16) and Kallmann syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b8p11\u9818\u57df\u306e\u7570\u5e38\u3068\u30ab\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u306e\u95a2\u9023\u3001\u304a\u3088\u3073FGFR1\u5468\u8fba\u306e\u907a\u4f1d\u5b50\u5730\u56f3\u3068\u81e8\u5e8a\u50cf\u306e\u76f8\u95a2\u306b\u3064\u3044\u3066\u89e3\u6790\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>8p deletions<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u30018p\u6b20\u5931\uff08\u8fd1\u4f4d\u30fb\u9060\u4f4d\u542b\u3080\uff09\u306e\u7279\u5fb4\u3001\u767a\u9054\u306e\u76ee\u5b89\u3001\u751f\u6d3b\u4e0a\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u306a\u3069\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Kallmann Syndrome and Idiopathic Hypogonadotropic Hypogonadism<\/em> \/ <em>Hereditary Spherocytosis<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u672c\u75c7\u5019\u7fa4\u3092\u69cb\u6210\u3059\u308b2\u5927\u75be\u60a3\u306e\u8a3a\u65ad\u57fa\u6e96\u3001\u6700\u65b0\u306e\u7ba1\u7406\u6307\u91dd\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u60c5\u5831\u3092\u7db2\u7f85\u3057\u305f\u3001\u81e8\u5e8a\u73fe\u5834\u3067\u6700\u3082\u4fe1\u983c\u3055\u308c\u308b\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-17168","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\/17168","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\/17168\/revisions"}],"predecessor-version":[{"id":17171,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17168\/revisions\/17171"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17168"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}