{"id":17240,"date":"2026-01-22T00:22:08","date_gmt":"2026-01-22T00:22:08","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17240"},"modified":"2026-01-22T00:46:51","modified_gmt":"2026-01-22T00:46:51","slug":"beckwith-wiedemann-syndrome-bws","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/beckwith-wiedemann-syndrome-bws\/","title":{"rendered":"Beckwith-Wiedemann syndrome (BWS)"},"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>\u30d9\u30c3\u30af\u30a6\u30a3\u30ba\u30fb\u30a6\u30a3\u30fc\u30c7\u30de\u30f3\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>EMG\u75c7\u5019\u7fa4\uff08Exomphalos-Macroglossia-Gigantism syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u4e3b\u8981\u306a3\u5fb4\u5019\u3067\u3042\u308b\u300c\u81cd\u5e2f\u30d8\u30eb\u30cb\u30a2\uff08Exomphalos\uff09\u300d\u300c\u5de8\u820c\uff08Macroglossia\uff09\u300d\u300c\u5de8\u4f53\uff08Gigantism\uff09\u300d\u306e\u982d\u6587\u5b57\u3092\u3068\u3063\u305f\u53e4\u3044\u540d\u79f0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u30a6\u30a3\u30fc\u30c7\u30de\u30f3\u30fb\u30d9\u30c3\u30af\u30a6\u30a3\u30ba\u75c7\u5019\u7fa4\uff08Wiedemann-Beckwith syndrome\uff09<\/li>\n\n\n\n<li>11p15.5\u95a2\u9023\u904e\u6210\u9577\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u30d8\u30df\u30cf\u30a4\u30d1\u30fc\u30d7\u30ec\u30b8\u30a2\uff08\u7247\u5074\u80a5\u5927\u75c7 \/ Hemihyperplasia\uff09\n<ul class=\"wp-block-list\">\n<li>\u203bBWS\u306e\u75c7\u72b6\u306e\u4e00\u90e8\u3068\u3057\u3066\u3001\u3042\u308b\u3044\u306f\u5358\u72ec\u3067\u4f53\u306e\u7247\u5074\u3060\u3051\u304c\u5927\u304d\u304f\u306a\u308b\u75c5\u614b\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>11\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0915.5\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e11\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306e\u672b\u7aef\u306b\u3042\u308b\u300c15.5\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3051\u308b\u907a\u4f1d\u5b50\u767a\u73fe\u306e\u8abf\u7bc0\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u300c\u30b2\u30ce\u30e0\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u300d\u3011<\/p>\n\n\n\n<p>\u3053\u306e11p15.5\u9818\u57df\u306f\u3001**\u300c\u30b2\u30ce\u30e0\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\uff08\u30b2\u30ce\u30e0\u5237\u308a\u8fbc\u307f\uff09\u300d**\u3068\u547c\u3070\u308c\u308b\u7279\u6b8a\u306a\u5236\u5fa1\u3092\u53d7\u3051\u3066\u3044\u308b\u9818\u57df\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u901a\u5e38\u3001\u30d2\u30c8\u306e\u907a\u4f1d\u5b50\u306f\u7236\u7531\u6765\u3068\u6bcd\u7531\u6765\u306e2\u672c\u304c\u540c\u3058\u3088\u3046\u306b\u50cd\u304d\u307e\u3059\u304c\u3001\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u9818\u57df\u3067\u306f\u3001\u300c\u7236\u7531\u6765\u306e\u907a\u4f1d\u5b50\u3060\u3051\u304c\u50cd\u304f\u300d\u3001\u3042\u308b\u3044\u306f\u300c\u6bcd\u7531\u6765\u306e\u907a\u4f1d\u5b50\u3060\u3051\u304c\u50cd\u304f\u300d\u3068\u3044\u3046\u3088\u3046\u306b\u3001\u89aa\u306e\u7531\u6765\u306b\u3088\u3063\u3066\u30b9\u30a4\u30c3\u30c1\u306eON\/OFF\u304c\u3042\u3089\u304b\u3058\u3081\u6c7a\u307e\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u4ee5\u4e0b\u306e2\u3064\u306e\u91cd\u8981\u306a\u30c9\u30e1\u30a4\u30f3\uff08\u533a\u753b\uff09\u304c\u3042\u308a\u3001\u6210\u9577\u306e\u30a2\u30af\u30bb\u30eb\u3068\u30d6\u30ec\u30fc\u30ad\u3092\u8abf\u6574\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u30c9\u30e1\u30a4\u30f31\uff08\u30c6\u30ed\u30e1\u30a2\u5074\uff09\uff1a<\/strong> <em>IGF2<\/em>\uff08\u6210\u9577\u56e0\u5b50\uff1a\u30a2\u30af\u30bb\u30eb\uff09\u3068<em>H19<\/em>\uff08\u30d6\u30ec\u30fc\u30ad\uff09<\/li>\n\n\n\n<li><strong>\u30c9\u30e1\u30a4\u30f32\uff08\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\u5074\uff09\uff1a<\/strong> <em>KCNQ1<\/em>\u3001<em>KCNQ1OT1<\/em>\u3001<em>CDKN1C<\/em>\uff08\u7d30\u80de\u5468\u671f\u306e\u30d6\u30ec\u30fc\u30ad\uff09<\/li>\n<\/ol>\n\n\n\n<p>BWS\u3067\u306f\u3001\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3084\u30e1\u30c1\u30eb\u5316\uff08\u30b9\u30a4\u30c3\u30c1\u306e\u88c5\u98fe\uff09\u306e\u7570\u5e38\u306b\u3088\u308a\u3001**\u300c\u6210\u9577\u3092\u4fc3\u3059\u907a\u4f1d\u5b50\uff08IGF2\u306a\u3069\uff09\u304c\u904e\u5270\u306b\u50cd\u304f\u300d<strong>\u304b\u3001<\/strong>\u300c\u6210\u9577\u3092\u6291\u3048\u308b\u907a\u4f1d\u5b50\uff08CDKN1C\u306a\u3069\uff09\u304c\u50cd\u304b\u306a\u304f\u306a\u308b\u300d**\u3053\u3068\u3067\u3001\u7d30\u80de\u5206\u88c2\u304c\u904e\u5270\u306b\u306a\u308a\u3001\u8eab\u4f53\u306e\u904e\u6210\u9577\u3084\u816b\u760d\u306e\u767a\u751f\u306b\u3064\u306a\u304c\u308a\u307e\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>10,000\u4eba \u301c 13,700\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<p>\u6bd4\u8f03\u7684\u983b\u5ea6\u306e\u9ad8\u3044\u5148\u5929\u6027\u75be\u60a3\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6027\u5225\u306b\u3088\u308b\u767a\u751f\u983b\u5ea6\u306e\u5dee\u306f\u306a\u304f\u3001\u7537\u5150\u306b\u3082\u5973\u5150\u306b\u3082\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u751f\u6b96\u88dc\u52a9\u533b\u7642\uff08ART\uff09\u3068\u306e\u95a2\u9023\u3011<\/p>\n\n\n\n<p>\u8fd1\u5e74\u306e\u7814\u7a76\u306b\u3088\u308a\u3001\u4f53\u5916\u53d7\u7cbe\uff08IVF\uff09\u3084\u9855\u5fae\u6388\u7cbe\uff08ICSI\uff09\u306a\u3069\u306e\u751f\u6b96\u88dc\u52a9\u533b\u7642\u306b\u3088\u3063\u3066\u51fa\u751f\u3057\u305f\u5150\u306b\u304a\u3044\u3066\u3001\u81ea\u7136\u598a\u5a20\u306b\u6bd4\u3079\u3066BWS\u306e\u767a\u751f\u983b\u5ea6\u304c\u308f\u305a\u304b\u306b\u9ad8\u304f\u306a\u308b\uff08\u7d043\u301c9\u500d\u7a0b\u5ea6\uff09\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u53d7\u7cbe\u5375\u3092\u64cd\u4f5c\u3059\u308b\u904e\u7a0b\u3084\u57f9\u990a\u74b0\u5883\u304c\u3001\u907a\u4f1d\u5b50\u306e\u300c\u30e1\u30c1\u30eb\u5316\uff08\u30b9\u30a4\u30c3\u30c1\uff09\u300d\u306e\u72b6\u614b\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u305f\u3081\u3067\u306f\u306a\u3044\u304b\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u7d76\u5bfe\u7684\u306a\u30ea\u30b9\u30af\u3068\u3057\u3066\u306f\u4f9d\u7136\u3068\u3057\u3066\u4f4e\u3044\u3082\u306e\u3067\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>Beckwith-Wiedemann syndrome (BWS) \u306e\u75c7\u72b6\u306f\u3001**\u300c\u904e\u6210\u9577\uff08\u4f53\u304c\u5927\u304d\u3044\uff09\u300d\u300c\u5de8\u820c\uff08\u820c\u304c\u5927\u304d\u3044\uff09\u300d\u300c\u8179\u58c1\u6b20\u640d\uff08\u3078\u305d\u306e\u7570\u5e38\uff09\u300d**\u306e3\u5927\u5fb4\u5019\u304c\u6709\u540d\u3067\u3059\u304c\u3001\u305d\u308c\u4ee5\u5916\u306b\u3082\u816b\u760d\u30ea\u30b9\u30af\u3084\u4f4e\u8840\u7cd6\u306a\u3069\u3001\u6ce8\u610f\u3059\u3079\u304d\u70b9\u304c\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u306e\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u5168\u3066\u306e\u75c7\u72b6\u304c\u63c3\u3046\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\uff08\u4e0d\u5168\u578b\u3082\u591a\u3044\u3067\u3059\uff09\u3002<\/p>\n\n\n\n<p><strong>1. \u904e\u6210\u9577\u30fb\u8eab\u4f53\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u51fa\u751f\u524d\u5f8c\u306e\u904e\u6210\u9577\uff08Macrosomia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5728\u80ce\u9031\u6570\u306b\u6bd4\u3079\u3066\u4f53\u304c\u5927\u304d\u304f\u751f\u307e\u308c\u3001\u751f\u5f8c\u3082\u5c0f\u5150\u671f\u3092\u901a\u3058\u3066\u8eab\u9577\u30fb\u4f53\u91cd\u3068\u3082\u306b\u6210\u9577\u66f2\u7dda\u306e97\u30d1\u30fc\u30bb\u30f3\u30bf\u30a4\u30eb\u3092\u8d85\u3048\u308b\u3088\u3046\u306a\u6025\u901f\u306a\u6210\u9577\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e88\u5f8c:<\/strong> \u3053\u306e\u904e\u6210\u9577\u306f\u601d\u6625\u671f\u9803\u306b\u306f\u843d\u3061\u7740\u304d\u3001\u6210\u4eba\u306e\u6700\u7d42\u8eab\u9577\u306f\u5e73\u5747\u3088\u308a\u3084\u3084\u9ad8\u3044\u7a0b\u5ea6\u306b\u53ce\u307e\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7247\u5074\u80a5\u5927\uff08Hemihyperplasia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f53\u306e\u53f3\u5074\u3068\u5de6\u5074\u3067\u5927\u304d\u3055\u304c\u7570\u306a\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u624b\u8db3\u306e\u592a\u3055\u3084\u9577\u3055\u304c\u9055\u3046\uff08\u811a\u9577\u5dee\u306b\u3088\u308b\u5074\u5f2f\u306e\u539f\u56e0\u306b\u306a\u308b\uff09\u3001\u9854\u306e\u5de6\u53f3\u5dee\u304c\u3042\u308b\u3001\u306a\u3069\u304c\u7d0425%\u306e\u60a3\u8005\u3055\u3093\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u816b\u760d\u767a\u751f\u30ea\u30b9\u30af\u3068\u95a2\u9023\u304c\u3042\u308b\u305f\u3081\u3001\u91cd\u8981\u306a\u6240\u898b\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u982d\u84cb\u9854\u9762\u306e\u75c7\u72b6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5de8\u820c\uff08Macroglossia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u3082\u7279\u5fb4\u7684\u306a\u75c7\u72b6<\/strong>\u3067\u3001\u7d0490%\u4ee5\u4e0a\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u820c\u304c\u5927\u304d\u304f\u3001\u53e3\u304b\u3089\u5e38\u306b\u51fa\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f71\u97ff:<\/strong> \u54fa\u4e73\u969c\u5bb3\u3001\u56a5\u4e0b\u969c\u5bb3\u3001\u547c\u5438\u969c\u5bb3\uff08\u7761\u7720\u6642\u7121\u547c\u5438\uff09\u3001\u69cb\u97f3\u969c\u5bb3\uff08\u767a\u97f3\u306e\u4e0d\u660e\u77ad\u3055\uff09\u3001\u6b6f\u4e26\u3073\u3078\u306e\u5f71\u97ff\uff08\u958b\u54ac\u30fb\u4e0b\u984e\u524d\u7a81\uff09\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6210\u9577\u3068\u3068\u3082\u306b\u53e3\u306e\u4e2d\u306e\u5bb9\u7a4d\u304c\u5927\u304d\u304f\u306a\u308a\u3001\u76ee\u7acb\u305f\u306a\u304f\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u5916\u79d1\u624b\u8853\u304c\u5fc5\u8981\u306a\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8033\u306e\u7279\u5fb4:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u8033\u5782\u306e\u7dda\u72b6\u6e9d\uff08Ear creases\uff09\uff1a<\/strong> \u8033\u305f\u3076\u306b\u30b7\u30ef\u306e\u3088\u3046\u306a\u6e9d\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8033\u8f2a\u811a\u306e\u5c0f\u7aa9\uff08Ear pits\uff09\uff1a<\/strong> \u8033\u306e\u4ed8\u3051\u6839\u306e\u5f8c\u308d\u5074\u306b\u5c0f\u3055\u306a\u7a74\uff08\u304f\u307c\u307f\uff09\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u3089\u306fBWS\u306b\u975e\u5e38\u306b\u7279\u5fb4\u7684\u306a\u30b5\u30a4\u30f3\u3067\u3042\u308a\u3001\u8a3a\u65ad\u306e\u304d\u3063\u304b\u3051\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9854\u8c8c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u76ee\u306e\u4e0b\u306e\u81a8\u3089\u307f\u3001\u4e2d\u9854\u9762\u306e\u4f4e\u5f62\u6210\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08Nevus flammeus\uff1a\u524d\u984d\u90e8\u306e\u8840\u7ba1\u816b\u3082\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u8179\u58c1\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81cd\u5e2f\u30d8\u30eb\u30cb\u30a2\uff08Omphalocele\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u751f\u307e\u308c\u305f\u6642\u3001\u3078\u305d\u306e\u7dd2\u306e\u4e2d\u306b\u8178\u3084\u809d\u81d3\u304c\u51fa\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002\u7dca\u6025\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u81cd\u30d8\u30eb\u30cb\u30a2\uff08\u51fa\u3079\u305d\uff09 \/ \u8179\u76f4\u7b4b\u96e2\u958b:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u306e\u5834\u5408\u306f\u3001\u5927\u304d\u3081\u306e\u51fa\u3079\u305d\u3084\u3001\u8179\u7b4b\u304c\u5f31\u304f\u304a\u8179\u304c\u307d\u3063\u3053\u308a\u3057\u3066\u3044\u308b\u7a0b\u5ea6\u3067\u6e08\u3080\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u4ee3\u8b1d\u30fb\u5185\u81d3\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65b0\u751f\u5150\u4f4e\u8840\u7cd6\uff08Neonatal Hypoglycemia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7d0430\u301c50%\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30a4\u30f3\u30b9\u30ea\u30f3\uff08\u8840\u7cd6\u5024\u3092\u4e0b\u3052\u308b\u30db\u30eb\u30e2\u30f3\uff09\u304c\u904e\u5270\u306b\u5206\u6ccc\u3055\u308c\u308b\u3053\u3068\u306a\u3069\u304c\u539f\u56e0\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u8981:<\/strong> \u91cd\u5ea6\u306e\u4f4e\u8840\u7cd6\u3092\u653e\u7f6e\u3059\u308b\u3068\u8133\u306b\u30c0\u30e1\u30fc\u30b8\u3092\u4e0e\u3048\u308b\u305f\u3081\u3001\u751f\u5f8c\u3059\u3050\u306e\u8840\u7cd6\u7ba1\u7406\u306f\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002\u591a\u304f\u306e\u5834\u5408\u306f\u751f\u5f8c\u6570\u65e5\u301c\u6570\u9031\u9593\u3067\u6539\u5584\u3057\u307e\u3059\u304c\u3001\u7a00\u306b\u9577\u5f15\u304f\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5185\u81d3\u80a5\u5927\uff08Visceromegaly\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u809d\u81d3\u3001\u813e\u81d3\u3001\u814e\u81d3\u3001\u81b5\u81d3\u306a\u3069\u306e\u81d3\u5668\u304c\u5927\u304d\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u816b\u760d\u767a\u751f\u30ea\u30b9\u30af\uff08Embryonal tumors\uff09<\/strong><\/p>\n\n\n\n<p><strong>BWS\u306b\u304a\u3044\u3066\u6700\u3082\u8b66\u6212\u3059\u3079\u304d\u5408\u4f75\u75c7\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u60a3\u8005\u3055\u3093\u306e\u7d045\u301c10%\u306b\u3001\u5c0f\u5150\u304c\u3093\uff08\u7279\u306b\u80ce\u5150\u6027\u816b\u760d\uff09\u304c\u767a\u751f\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e3b\u306a\u816b\u760d:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\uff08\u814e\u82bd\u816b\uff09\uff1a<\/strong> \u6700\u3082\u983b\u5ea6\u304c\u9ad8\u3044\u3002<\/li>\n\n\n\n<li><strong>\u809d\u82bd\u816b:<\/strong> \u809d\u81d3\u306e\u304c\u3093\u3002<\/li>\n\n\n\n<li>\u305d\u306e\u4ed6\uff1a\u795e\u7d4c\u82bd\u816b\u3001\u6a2a\u7d0b\u7b4b\u8089\u816b\u3001\u526f\u814e\u76ae\u8cea\u764c\u306a\u3069\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6642\u671f:<\/strong> \u5927\u90e8\u5206\u306f<strong>8\u6b73\u301c10\u6b73\u307e\u3067<\/strong>\u306b\u767a\u75c7\u3057\u307e\u3059\u3002\u6210\u4eba\u5f8c\u306e\u30ea\u30b9\u30af\u306f\u4e00\u822c\u4eba\u53e3\u3068\u540c\u7a0b\u5ea6\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30ea\u30b9\u30af\u56e0\u5b50:<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u7570\u30bf\u30a4\u30d7\u306b\u3088\u3063\u3066\u30ea\u30b9\u30af\u304c\u7570\u306a\u308a\u307e\u3059\uff08\u5f8c\u8ff0\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>11\u756a\u67d3\u8272\u4f53\uff0811p15.5\uff09\u306e\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u8abf\u7bc0\u9818\u57df\u306e\u7570\u5e38\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p>BWS\u306e\u539f\u56e0\u306f\u4e00\u3064\u3067\u306f\u306a\u304f\u3001\u3044\u304f\u3064\u304b\u306e\u30d1\u30bf\u30fc\u30f3\u306b\u5206\u304b\u308c\u307e\u3059\u3002\u3053\u308c\u304c\u75c7\u72b6\u3084\u816b\u760d\u30ea\u30b9\u30af\u306e\u9055\u3044\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>IC2\uff08\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u30bb\u30f3\u30bf\u30fc2\uff09\u306e\u30e1\u30c1\u30eb\u5316\u6d88\u5931\uff08LOM\uff09\uff1a\u7d0450%<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6700\u3082\u591a\u3044\u30bf\u30a4\u30d7\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6bcd\u7531\u6765\u306e\u67d3\u8272\u4f53\u3067\u3001\u901a\u5e38\u306f\u30e1\u30c1\u30eb\u5316\u3055\u308c\u3066\u3044\u308b\uff08\u30b9\u30a4\u30c3\u30c1\u304c\u8abf\u6574\u3055\u308c\u3066\u3044\u308b\uff09\u5834\u6240\u306e\u30e1\u30c1\u30eb\u5316\u304c\u5916\u308c\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><em>CDKN1C<\/em>\uff08\u6210\u9577\u30d6\u30ec\u30fc\u30ad\uff09\u304c\u52b9\u304b\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5fb4:<\/strong> \u81cd\u5e2f\u30d8\u30eb\u30cb\u30a2\u306a\u3069\u306e\u8eab\u4f53\u75c7\u72b6\u306f\u5178\u578b\u7684\u3067\u3059\u304c\u3001<strong>\u816b\u760d\u306e\u30ea\u30b9\u30af\u306f\u6bd4\u8f03\u7684\u4f4e\u3044<\/strong>\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7236\u6027\u7247\u89aa\u6027\u30c0\u30a4\u30bd\u30df\u30fc\uff08UPD\uff09\uff1a\u7d0420%<\/strong>\n<ul class=\"wp-block-list\">\n<li>11\u756a\u67d3\u8272\u4f53\u306e11p15\u9818\u57df\u304c\u30012\u672c\u3068\u3082\u300c\u7236\u89aa\u7531\u6765\u300d\u306b\u306a\u3063\u3066\u3057\u307e\u3063\u305f\u72b6\u614b\u3067\u3059\uff08\u901a\u5e38\u306f\u72361\u672c\u3001\u6bcd1\u672c\uff09\u3002<\/li>\n\n\n\n<li>\u7236\u7531\u6765\u306e\u300c\u6210\u9577\u30a2\u30af\u30bb\u30eb\uff08IGF2\uff09\u300d\u304c2\u500d\u50cd\u304d\u3001\u6bcd\u7531\u6765\u306e\u300c\u6210\u9577\u30d6\u30ec\u30fc\u30ad\uff08CDKN1C\uff09\u300d\u304c\u7121\u3044\u72b6\u614b\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5fb4:<\/strong> \u7247\u5074\u80a5\u5927\u304c\u8d77\u304d\u3084\u3059\u304f\u3001<strong>\u816b\u760d\u767a\u751f\u30ea\u30b9\u30af\u304c\u9ad8\u3044<\/strong>\uff08\u7d0415%\u4ee5\u4e0a\uff09\u305f\u3081\u3001\u53b3\u91cd\u306a\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>IC1\uff08\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u30bb\u30f3\u30bf\u30fc1\uff09\u306e\u30e1\u30c1\u30eb\u5316\u7372\u5f97\uff08GOM\uff09\uff1a\u7d045%<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6bcd\u7531\u6765\u306e\u67d3\u8272\u4f53\u304c\u3001\u7236\u7531\u6765\u306e\u3088\u3046\u306a\u30d1\u30bf\u30fc\u30f3\u306b\u5909\u5316\u3057\u3066\u3057\u307e\u3044\u3001<em>IGF2<\/em>\uff08\u6210\u9577\u30a2\u30af\u30bb\u30eb\uff09\u304c\u904e\u5270\u306b\u51fa\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5fb4:<\/strong> <strong>\u816b\u760d\u767a\u751f\u30ea\u30b9\u30af\u304c\u975e\u5e38\u306b\u9ad8\u3044<\/strong>\uff08\u7d0428%\uff09\u30bf\u30a4\u30d7\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>CDKN1C\u907a\u4f1d\u5b50\u306e\u5909\u7570\uff1a\u7d045%<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6210\u9577\u30d6\u30ec\u30fc\u30ad\u3067\u3042\u308b<em>CDKN1C<\/em>\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u304c\u58ca\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5fb4:<\/strong> \u5bb6\u65cf\u6027\uff08\u89aa\u304b\u3089\u907a\u4f1d\u3059\u308b\uff09\u306e\u5834\u5408\u3001\u3053\u306e\u30bf\u30a4\u30d7\u304c\u591a\u3044\u3067\u3059\u3002\u81cd\u5e2f\u30d8\u30eb\u30cb\u30a2\u3084\u53e3\u84cb\u88c2\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u67d3\u8272\u4f53\u7570\u5e38\uff08\u91cd\u8907\u3001\u8ee2\u5ea7\u3001\u9006\u4f4d\u306a\u3069\uff09\uff1a\u7d041%\u672a\u6e80<\/strong><\/li>\n<\/ul>\n\n\n\n<p>\u203b\u6b8b\u308a\u306e\u7d0415\u301c20%\u306f\u3001\u73fe\u5728\u306e\u691c\u67fb\u6280\u8853\u3067\u306f\u539f\u56e0\u304c\u7279\u5b9a\u3067\u304d\u306a\u3044\u300c\u539f\u56e0\u4e0d\u660e\u300d\u3067\u3059\u304c\u3001\u81e8\u5e8a\u7684\u306bBWS\u3068\u8a3a\u65ad\u3055\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>\u81e8\u5e8a\u7684\u306a\u7279\u5fb4\u306e\u30b9\u30b3\u30a2\u30ea\u30f3\u30b0\u3068\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u8a3a\u65ad\uff08\u30b3\u30f3\u30bb\u30f3\u30b5\u30b9\u30b9\u30b3\u30a2\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u4e3b\u8981\u5fb4\u5019\uff08\u54042\u70b9\uff09\uff1a<\/strong> \u5de8\u820c\u3001\u81cd\u5e2f\u30d8\u30eb\u30cb\u30a2\u3001\u7247\u5074\u80a5\u5927\u3001\u591a\u81d3\u5668\u80a5\u5927\u3001\u8033\u306e\u7dda\u72b6\u6e9d\/\u5c0f\u7aa9\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u526f\u5fb4\u5019\uff08\u54041\u70b9\uff09\uff1a<\/strong> \u814e\u7570\u5e38\u3001\u65b0\u751f\u5150\u4f4e\u8840\u7cd6\u3001\u8840\u7ba1\u816b\u3001\u5de8\u5927\u5150\u3001\u5bb6\u65cf\u6b74\u306a\u3069\u3002<\/li>\n\n\n\n<li>\u5408\u8a08\u30b9\u30b3\u30a2\u304c\u4e00\u5b9a\u4ee5\u4e0a\uff08\u901a\u5e384\u70b9\u4ee5\u4e0a\uff09\u3067\u3042\u308c\u3070\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306a\u3057\u3067\u3082\u81e8\u5e8a\u7684\u306bBWS\u3068\u8a3a\u65ad\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08\u30e1\u30c1\u30eb\u5316\u89e3\u6790\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8840\u6db2\u304b\u3089DNA\u3092\u62bd\u51fa\u3057\u300111p15.5\u9818\u57df\u306e\u30e1\u30c1\u30eb\u5316\u72b6\u614b\u3092\u8abf\u3079\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001IC2-LOM\u3001IC1-GOM\u3001UPD\u306e\u533a\u5225\u304c\u3064\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5fc5\u8981\u306b\u5fdc\u3058\u3066<em>CDKN1C<\/em>\u907a\u4f1d\u5b50\u306e\u30b7\u30fc\u30af\u30a8\u30f3\u30b9\u89e3\u6790\u3084\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff08\u5fae\u5c0f\u6b20\u5931\u30fb\u91cd\u8907\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u203b\u907a\u4f1d\u5b50\u691c\u67fb\u306f\u3001\u816b\u760d\u30ea\u30b9\u30af\u306e\u4e88\u6e2c\u3084\u3001\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\u306e\u8a55\u4fa1\u306e\u305f\u3081\u306b\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5\u30fb\u7ba1\u7406\u65b9\u91dd<\/strong><\/h2>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306e\u76ee\u7684\u306f\u3001\u300c\u5408\u4f75\u75c7\uff08\u4f4e\u8840\u7cd6\u30fb\u30d8\u30eb\u30cb\u30a2\uff09\u306e\u6cbb\u7642\u300d\u3068\u300c\u816b\u760d\u306e\u65e9\u671f\u767a\u898b\u300d\u3001\u305d\u3057\u3066**\u300cQOL\u306e\u5411\u4e0a\uff08\u5de8\u820c\u30fb\u811a\u9577\u5dee\uff09\u300d**\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u816b\u760d\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff08\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff09<\/strong><\/p>\n\n\n\n<p><strong>BWS\u306e\u7ba1\u7406\u306b\u304a\u3044\u3066\u6700\u3082\u91cd\u8981\u306a\u90e8\u5206\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8179\u90e8\u8d85\u97f3\u6ce2\uff08\u30a8\u30b3\u30fc\uff09\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u76ee\u7684:<\/strong> \u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u3084\u809d\u82bd\u816b\u3092\u65e9\u671f\u767a\u898b\u3059\u308b\u305f\u3081\u3002<\/li>\n\n\n\n<li><strong>\u983b\u5ea6:<\/strong> \u8a3a\u65ad\u5f8c\u301c7\u6b73\uff08\u307e\u305f\u306f8\u6b73\uff09\u9803\u307e\u3067\u3001<strong>3\u30f6\u6708\u3054\u3068<\/strong>\u306b\u884c\u3046\u3053\u3068\u304c\u56fd\u969b\u7684\u306b\u63a8\u5968\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u65e9\u671f\u306b\u898b\u3064\u304b\u308c\u3070\u3001\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u306a\u3069\u306f\u975e\u5e38\u306b\u4e88\u5f8c\u306e\u826f\u3044\u304c\u3093\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8840\u6e05AFP\uff08\u03b1-\u30d5\u30a7\u30c8\u30d7\u30ed\u30c6\u30a4\u30f3\uff09\u6e2c\u5b9a:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u76ee\u7684:<\/strong> \u809d\u82bd\u816b\u306e\u30de\u30fc\u30ab\u30fc\u3002<\/li>\n\n\n\n<li><strong>\u983b\u5ea6:<\/strong> \u751f\u5f8c\u301c4\u6b73\u9803\u307e\u3067\u3001\u6570\u30f6\u6708\u3054\u3068\u306b\u6e2c\u5b9a\u3059\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\uff08\u305f\u3060\u3057\u3001AFP\u306f\u63a1\u8840\u304c\u5fc5\u8981\u306a\u305f\u3081\u3001\u8ca0\u62c5\u3068\u5229\u76ca\u3092\u8003\u616e\u3057\u3066\u533b\u5e2b\u3068\u76f8\u8ac7\u3057\u307e\u3059\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u203b\u816b\u760d\u30ea\u30b9\u30af\u306f\u907a\u4f1d\u5b50\u578b\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u305f\u3081\u3001\u30ea\u30b9\u30af\u306b\u5fdc\u3058\u305f\u30d7\u30ed\u30c8\u30b3\u30eb\u304c\u7d44\u307e\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u65b0\u751f\u5150\u4f4e\u8840\u7cd6\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u751f\u5f8c\u3059\u3050\u306b\u8840\u7cd6\u5024\u3092\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u983b\u56de\u6388\u4e73\u3084\u70b9\u6ef4\u306b\u3088\u308b\u30d6\u30c9\u30a6\u7cd6\u6295\u4e0e\u3067\u7ba1\u7406\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u96e3\u6cbb\u6027\u306e\u5834\u5408\u306f\u3001\u30b8\u30a2\u30be\u30ad\u30b7\u30c9\u306a\u3069\u306e\u85ac\u7269\u7642\u6cd5\u3084\u3001\u7a00\u306b\u81b5\u90e8\u5206\u5207\u9664\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5de8\u820c\u3078\u306e\u5bfe\u5fdc<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u3067\u3042\u308c\u3070\u7d4c\u904e\u89b3\u5bdf\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u547c\u5438\u969c\u5bb3\uff08\u7761\u7720\u6642\u7121\u547c\u5438\uff09\u3001\u91cd\u5ea6\u306e\u54fa\u4e73\u969c\u5bb3\u3001\u565b\u307f\u5408\u308f\u305b\u306e\u554f\u984c\u3001\u767a\u97f3\u306e\u554f\u984c\u3001\u3042\u308b\u3044\u306f\u5fc3\u7406\u793e\u4f1a\u7684\u306a\u554f\u984c\uff08\u898b\u305f\u76ee\uff09\u304c\u3042\u308b\u5834\u5408\u3001**\u820c\u7e2e\u5c0f\u8853\uff08\u820c\u3092\u90e8\u5206\u7684\u306b\u5207\u9664\u3057\u3066\u5c0f\u3055\u304f\u3059\u308b\u624b\u8853\uff09**\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u624b\u8853\u6642\u671f\u306f2\u301c4\u6b73\u9803\u306b\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u75c7\u72b6\u306b\u3088\u308a\u7570\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u8179\u58c1\u6b20\u640d\u306e\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u81cd\u5e2f\u30d8\u30eb\u30cb\u30a2\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u51fa\u751f\u76f4\u5f8c\u306b\u5c0f\u5150\u5916\u79d1\u3067\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u6574\u5f62\u5916\u79d1\u7684\u5bfe\u5fdc<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7247\u5074\u80a5\u5927\u306b\u3088\u308b\u811a\u9577\u5dee\uff08\u8db3\u306e\u9577\u3055\u306e\u9055\u3044\uff09\u304c\u3042\u308b\u5834\u5408\u3001\u80cc\u9aa8\u304c\u66f2\u304c\u308b\uff08\u5074\u5f2f\uff09\u306e\u3092\u9632\u3050\u305f\u3081\u3001\u9774\u306e\u4e2d\u6577\u304d\uff08\u88dc\u9ad8\uff09\u3067\u8abf\u6574\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5b9a\u671f\u7684\u306b\u811a\u9577\u5dee\u3092\u30c1\u30a7\u30c3\u30af\u3057\u3001\u5dee\u304c\u8457\u3057\u3044\u5834\u5408\u306f\u5916\u79d1\u7684\u306a\u9aa8\u5ef6\u9577\u8853\u3084\u6210\u9577\u6291\u5236\u8853\uff08\u9577\u3044\u65b9\u306e\u9aa8\u306e\u6210\u9577\u3092\u6b62\u3081\u308b\uff09\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>6. \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>\u8907\u96d1\u306a\u907a\u4f1d\u30e1\u30ab\u30cb\u30ba\u30e0\u3084\u3001\u816b\u760d\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u5206\u304b\u308a\u3084\u3059\u304f\u8aac\u660e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5927\u591a\u6570\uff08IC2-LOM\u3084UPD\uff09\u306f\u7a81\u7136\u5909\u7570\u3067\u3042\u308a\u3001\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\u306f\u4f4e\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3057\u304b\u3057\u3001<em>CDKN1C<\/em>\u5909\u7570\u3084\u67d3\u8272\u4f53\u8ee2\u5ea7\u3001\u3042\u308b\u3044\u306fIC1\u306e\u5fae\u5c0f\u6b20\u5931\u306a\u3069\u306e\u5834\u5408\u306f\u3001\u6700\u592750%\u306e\u78ba\u7387\u3067\u907a\u4f1d\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u6b63\u78ba\u306a\u8a3a\u65ad\u3068\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u4e0d\u53ef\u6b20\u3067\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>Beckwith-Wiedemann syndrome (BWS) \u306f\u300111\u756a\u67d3\u8272\u4f53\u306e\u907a\u4f1d\u5b50\u8abf\u6574\u306e\u30b9\u30a4\u30c3\u30c1\u304c\u5207\u308a\u66ff\u308f\u308b\u3053\u3068\u3067\u3001\u8eab\u4f53\u306e\u6210\u9577\u304c\u4fc3\u9032\u3055\u308c\u3059\u304e\u3066\u3057\u307e\u3046\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u8d64\u3061\u3083\u3093\u306f\u3001\u5927\u304d\u304f\u751f\u307e\u308c\u3001\u820c\u304c\u5927\u304d\u304b\u3063\u305f\u308a\u3001\u304a\u3078\u305d\u306e\u5f62\u304c\u5909\u308f\u3063\u3066\u3044\u305f\u308a\u3001\u8033\u306b\u5c0f\u3055\u306a\u304f\u307c\u307f\u304c\u3042\u3063\u305f\u308a\u3068\u3001\u7279\u5fb4\u7684\u306a\u30b5\u30a4\u30f3\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u4e00\u756a\u306e\u5fc3\u914d\u4e8b\u306f\u300c\u5c0f\u5150\u304c\u3093\u300d\u306e\u30ea\u30b9\u30af\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u78ba\u304b\u306bBWS\u306e\u304a\u5b50\u3055\u3093\u306f\u3001\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u306a\u3069\u304c\u3093\u304c\u3067\u304d\u3084\u3059\u3044\u4f53\u8cea\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u91cd\u8981\u306a\u306e\u306f**\u300c\u6c7a\u3081\u3089\u308c\u305f\u30b9\u30b1\u30b8\u30e5\u30fc\u30eb\u3067\u691c\u67fb\u3092\u53d7\u3051\u308c\u3070\u3001\u547d\u3092\u5b88\u308c\u308b\u300d**\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>3\u30f6\u6708\u3054\u3068\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3092\u7d9a\u3051\u308b\u3053\u3068\u306f\u5927\u5909\u3067\u3059\u304c\u3001\u3053\u308c\u306b\u3088\u3063\u3066\u4e07\u304c\u4e00\u816b\u760d\u304c\u3067\u304d\u3066\u3082\u3001\u65e9\u671f\u306b\u767a\u898b\u3057\u3001\u5b8c\u5168\u306b\u6cbb\u3059\u3053\u3068\u304c\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u5de8\u820c\u3084\u811a\u306e\u9577\u3055\u306e\u9055\u3044\u306b\u3064\u3044\u3066\u3082\u3001\u624b\u8853\u3084\u88c5\u5177\u306a\u3069\u306e\u78ba\u7acb\u3055\u308c\u305f\u6cbb\u7642\u6cd5\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u904e\u5270\u306a\u6210\u9577\u306f\u5927\u4eba\u306b\u306a\u308b\u306b\u3064\u308c\u3066\u843d\u3061\u7740\u304d\u3001\u77e5\u7684\u306a\u767a\u9054\u3082\u6b63\u5e38\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u304c\u901a\u5e38\u306e\u5b66\u6821\u751f\u6d3b\u3092\u9001\u308a\u3001\u793e\u4f1a\u3067\u6d3b\u8e8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u304c\u3093\u691c\u8a3a\u300d\u3068\u3044\u3046\u304a\u5b88\u308a\u3092\u6301\u3061\u306a\u304c\u3089\u3001\u304a\u5b50\u3055\u3093\u306e\u5927\u304d\u306a\u6210\u9577\u3092\u898b\u5b88\u3063\u3066\u3044\u304f\u3002<\/p>\n\n\n\n<p>\u5c0f\u5150\u79d1\u533b\u3001\u5c0f\u5150\u5916\u79d1\u533b\u3001\u6574\u5f62\u5916\u79d1\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\u5143\u6c17\u306a\u672a\u6765\u3092\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>Brioude, F., et al.<\/strong> (2018). <em>Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.<\/em> Nature Reviews Endocrinology.\n<ul class=\"wp-block-list\">\n<li>(\u203bBWS\u306e\u8a3a\u65ad\u57fa\u6e96\u3001\u816b\u760d\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u30d7\u30ed\u30c8\u30b3\u30eb\u3001\u907a\u4f1d\u5b50\u578b\u3054\u3068\u306e\u30ea\u30b9\u30af\u5206\u985e\u306a\u3069\u3092\u307e\u3068\u3081\u305f\u3001\u73fe\u5728\u4e16\u754c\u6a19\u6e96\u3068\u306a\u3063\u3066\u3044\u308b\u56fd\u969b\u30b3\u30f3\u30bb\u30f3\u30b5\u30b9\u30b9\u30c6\u30fc\u30c8\u30e1\u30f3\u30c8\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Choufani, S., et al.<\/strong> (2010). <em>Beckwith-Wiedemann syndrome and epigenetic alterations of the 11p15 region.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bBWS\u306e\u8907\u96d1\u306a\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30af\u30b9\uff08\u30e1\u30c1\u30eb\u5316\u7570\u5e38\uff09\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u8a73\u7d30\u306b\u89e3\u8aac\u3057\u305f\u30ec\u30d3\u30e5\u30fc\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Weksberg, R., et al.<\/strong> (2010). <em>Beckwith-Wiedemann syndrome.<\/em> European Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u81e8\u5e8a\u7684\u7279\u5fb4\u304b\u3089\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u307e\u3067\u3092\u7db2\u7f85\u3057\u305f\u5305\u62ec\u7684\u306a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Mussa, A., et al.<\/strong> (2016). <em>Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (epi)Genotype Specific Cancer Screening Protocol.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u907a\u4f1d\u5b50\u578b\u3054\u3068\u306e\u816b\u760d\u767a\u751f\u7387\u3092\u30e1\u30bf\u89e3\u6790\u3057\u3001\u30ea\u30b9\u30af\u306b\u5fdc\u3058\u305f\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u5fc5\u8981\u6027\u3092\u63d0\u5531\u3057\u305f\u91cd\u8981\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Beckwith-Wiedemann Syndrome<\/em>. Initial Posting: 2000; Last Update: 2021. <em>Authors: Shuman C, et al.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u6700\u65b0\u306e\u81e8\u5e8a\u60c5\u5831\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u60c5\u5831\u3092\u63d0\u4f9b\u3059\u308b\u4fe1\u983c\u6027\u306e\u9ad8\u3044\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u65e5\u672c\u5c0f\u5150\u5916\u79d1\u5b66\u4f1a<\/strong>: <em>\u81cd\u5e2f\u30d8\u30eb\u30cb\u30a2<\/em> \/ <em>\u30d9\u30c3\u30af\u30a6\u30a3\u30ba\u30fb\u30f4\u30a3\u30fc\u30c7\u30de\u30f3\u75c7\u5019\u7fa4<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u65e5\u672c\u56fd\u5185\u306b\u304a\u3051\u308b\u5916\u79d1\u7684\u6cbb\u7642\u3084\u7ba1\u7406\u306b\u95a2\u3059\u308b\u60c5\u5831\u6e90\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-17240","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\/17240","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":4,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17240\/revisions"}],"predecessor-version":[{"id":17256,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17240\/revisions\/17256"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17240"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}