{"id":17522,"date":"2026-01-22T06:29:31","date_gmt":"2026-01-22T06:29:31","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17522"},"modified":"2026-01-22T06:29:31","modified_gmt":"2026-01-22T06:29:31","slug":"williams-beuren-syndrome-wbs","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/williams-beuren-syndrome-wbs\/","title":{"rendered":"Williams-Beuren syndrome (WBS)"},"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><strong>WBS \/ WS<\/strong><\/li>\n\n\n\n<li><strong>\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>7q11.23\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\uff087q11.23 microdeletion syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u7279\u767a\u6027\u4e73\u5150\u9ad8\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\uff08\u65e7\u79f0\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u4e73\u5150\u671f\u306b\u4e00\u904e\u6027\u306e\u9ad8\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u304b\u3064\u3066\u3053\u3046\u547c\u3070\u308c\u3066\u3044\u307e\u3057\u305f\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>7\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0911.23\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931<\/strong><\/p>\n\n\n\n<p>Williams-Beuren\u75c7\u5019\u7fa4\uff08WBS\uff09\u306f\u30017\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306b\u3042\u308b\u300c11.23\u300d\u3068\u3044\u3046\u975e\u5e38\u306b\u9650\u5b9a\u3055\u308c\u305f\u9818\u57df\u304c\u3001\u3054\u304f\u308f\u305a\u304b\u306b\u5931\u308f\u308c\u308b\uff08<strong>\u5fae\u5c0f<\/strong>\u6b20\u5931\uff09\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u9818\u57df\u306b\u306f\u7d0426\u301c28\u500b\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u305d\u308c\u3089\u304c\u4e00\u5ea6\u306b\u5931\u308f\u308c\u308b\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u306e\u4ee3\u8868\u7684\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u4e3b\u8981\u306a\u8cac\u4efb\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>\u6b20\u5931\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c\u3001WBS\u306e\u591a\u69d8\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>ELN\u907a\u4f1d\u5b50\uff08\u30a8\u30e9\u30b9\u30c1\u30f3\u907a\u4f1d\u5b50\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u8840\u7ba1\u3084\u76ae\u819a\u3001\u80ba\u306a\u3069\u306e\u7d44\u7e54\u306b\u5f3e\u529b\u6027\u3092\u4e0e\u3048\u308b\u300c\u30a8\u30e9\u30b9\u30c1\u30f3\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u306e\u5f71\u97ff\uff1a\u5927\u52d5\u8108\u5f01\u4e0a\u72ed\u7a84\u306a\u3069\u306e<strong>\u5fc3\u8840\u7ba1\u75be\u60a3<\/strong>\u3001\u76ae\u819a\u306e\u305f\u308b\u307f\u3001\u3057\u308f\u304c\u308c\u58f0\u3001\u95a2\u7bc0\u306e\u67d4\u8edf\u6027\u306e\u7570\u5e38\u306a\u3069\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GTF2I \/ GTF2IRD1\u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u8ee2\u5199\u56e0\u5b50\u3068\u3057\u3066\u591a\u304f\u306e\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u8abf\u7bc0\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u306e\u5f71\u97ff\uff1aWBS\u7279\u6709\u306e**\u300c\u793e\u4ea4\u7684\u306a\u6027\u683c\u300d<strong>\u3084<\/strong>\u77e5\u7684\u969c\u5bb3**\u3001\u8996\u7a7a\u9593\u8a8d\u77e5\u306e\u56f0\u96e3\u3055\u3001\u304a\u3088\u3073\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>LIMK1\u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u795e\u7d4c\u7d30\u80de\u306e\u9aa8\u683c\u5f62\u6210\u306b\u95a2\u4e0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u306e\u5f71\u97ff\uff1a\u8996\u899a\u7684\u306a\u60c5\u5831\u3092\u7a7a\u9593\u7684\u306b\u628a\u63e1\u3059\u308b\u80fd\u529b\uff08\u8996\u7a7a\u9593\u8a8d\u77e5\uff09\u306e\u969c\u5bb3\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>CLIP2\u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u8133\u5185\u306e\u7d30\u80de\u9aa8\u683c\u306e\u52d5\u614b\u306b\u95a2\u4e0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u306e\u5f71\u97ff\uff1a\u5c0f\u8133\u306e\u6a5f\u80fd\u3084\u904b\u52d5\u8abf\u6574\u3078\u306e\u5f71\u97ff\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u51fa\u751f\u5150 \u7d047,500\u4eba \u301c 20,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b63\u78ba\u306a\u983b\u5ea6:<\/strong> \u304b\u3064\u3066\u306f2\u4e07\u4eba\u306b1\u4eba\u3068\u3055\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u8a3a\u65ad\u6280\u8853\uff08FISH\u6cd5\u3084\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u6cd5\uff09\u306e\u5411\u4e0a\u306b\u3088\u308a\u3001\u73fe\u5728\u306f1\u4e07\u4eba\u524d\u5f8c\u306b1\u4eba\u7a0b\u5ea6\u3068\u3001\u6bd4\u8f03\u7684\u983b\u5ea6\u306e\u9ad8\u3044\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee:<\/strong> \u7537\u5973\u5dee\u306f\u306a\u304f\u3001\u3069\u3061\u3089\u306e\u6027\u5225\u3067\u3082\u540c\u7b49\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u65e5\u672c\u56fd\u5185:<\/strong> \u65e5\u672c\u56fd\u5185\u306b\u304a\u3044\u3066\u3082\u540c\u69d8\u306e\u983b\u5ea6\u3067\u767a\u751f\u3057\u3066\u304a\u308a\u3001\u6307\u5b9a\u96e3\u75c5\uff08179\uff09\u306b\u8a8d\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>WBS\u306f\u3001\u9854\u8c8c\u3001\u5fc3\u8840\u7ba1\u7cfb\u3001\u77e5\u80fd\u30fb\u6027\u683c\u3001\u4ee3\u8b1d\u306a\u3069\u3001\u5168\u8eab\u306b\u975e\u5e38\u306b\u7279\u5fb4\u7684\u306a\u6240\u898b\u3092\u5448\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Elfin-like facies\uff09<\/strong><\/p>\n\n\n\n<p>\u300c\u5996\u7cbe\uff08\u30a8\u30eb\u30d5\uff09\u306e\u3088\u3046\u306a\u9854\u7acb\u3061\u300d\u3068\u5f62\u5bb9\u3055\u308c\u308b\u3001\u72ec\u7279\u3067\u9b45\u529b\u7684\u306a\u9854\u7acb\u3061\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e83\u3044\u984d\u3068\u773c\u9593\u958b\u96e2:<\/strong> \u984d\u304c\u5e83\u304f\u3001\u4e21\u76ee\u306e\u9593\u9694\u304c\u96e2\u308c\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u661f\u72b6\u8679\u5f69\uff08Stellate iris\uff09:<\/strong> \u9752\u3084\u7dd1\u306e\u77b3\u3092\u6301\u3064\u60a3\u8005\u3067\u306f\u3001\u8679\u5f69\u306b\u767d\u3044\u661f\u306e\u3088\u3046\u306a\u6a21\u69d8\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u539a\u3044\u5507\u3068\u53e3:<\/strong> \u53e3\u304c\u5927\u304d\u304f\u3001\u4e0a\u5507\u304c\u539a\u304f\u3001\u53e3\u89d2\u304c\u4e0a\u304c\u3063\u3066\u3044\u308b\uff08\u7b11\u9854\u306b\u898b\u3048\u308b\u3053\u3068\u304c\u591a\u3044\uff09\u3002<\/li>\n\n\n\n<li><strong>\u77ed\u3044\u9f3b\u3068\u5e73\u5766\u306a\u9f3b\u6839\u90e8:<\/strong> \u9f3b\u5148\u304c\u4e0a\u3092\u5411\u3044\u3066\u304a\u308a\u3001\u4ed8\u3051\u6839\u304c\u4f4e\u3044\u3002<\/li>\n\n\n\n<li><strong>\u3075\u3063\u304f\u3089\u3057\u305f\u982c:<\/strong> \u982c\u306e\u4e0b\u90e8\u304c\u3075\u3063\u304f\u3089\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5fc3\u8840\u7ba1\u75be\u60a3\uff08\u6700\u91cd\u8981\u306e\u5408\u4f75\u75c7\uff09<\/strong><\/p>\n\n\n\n<p>ELN\u907a\u4f1d\u5b50\u306e\u6b20\u640d\u306b\u3088\u308a\u3001\u5168\u8eab\u306e\u8840\u7ba1\u306b\u72ed\u7a84\uff08\u72ed\u304f\u306a\u308b\u3053\u3068\uff09\u304c\u751f\u3058\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5927\u52d5\u8108\u5f01\u4e0a\u72ed\u7a84\uff08SVAS\uff09:<\/strong> \u5927\u52d5\u8108\u306e\u6839\u5143\u304c\u72ed\u304f\u306a\u308b\u3001WBS\u3067\u6700\u3082\u591a\u304f\u898b\u3089\u308c\u308b\uff08\u7d0475%\uff09\u5fc3\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u672b\u68a2\u6027\u80ba\u52d5\u8108\u72ed\u7a84:<\/strong> \u80ba\u3078\u9001\u308b\u8840\u7ba1\u304c\u72ed\u304f\u306a\u308b\u72b6\u614b\u3002\u4e73\u5150\u671f\u306b\u591a\u304f\u898b\u3089\u308c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u6539\u5584\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9ad8\u8840\u5727:<\/strong> \u8840\u7ba1\u58c1\u306e\u5f3e\u529b\u6027\u4f4e\u4e0b\u3084\u814e\u52d5\u8108\u72ed\u7a84\u306b\u3088\u308a\u3001\u82e5\u5e74\u671f\u304b\u3089\u9ad8\u8840\u5727\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u77e5\u80fd\u3068\u72ec\u7279\u306e\u8a8d\u77e5\u7279\u6027<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3:<\/strong> \u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\uff08\u5e73\u5747IQ 50\u301c60\u524d\u5f8c\uff09\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a8d\u77e5\u306e\u30a2\u30f3\u30d0\u30e9\u30f3\u30b9:<\/strong> * <strong>\u4e0d\u5f97\u610f:<\/strong> \u30d1\u30ba\u30eb\u3001\u63cf\u753b\u3001\u7a7a\u9593\u628a\u63e1\u306a\u3069\u306e\u300c\u8996\u7a7a\u9593\u8a8d\u77e5\u300d\u304c\u6975\u3081\u3066\u82e6\u624b\u3067\u3059\u3002\n<ul class=\"wp-block-list\">\n<li><strong>\u5f97\u610f:<\/strong> \u8a00\u8a9e\u80fd\u529b\u306f\u6bd4\u8f03\u7684\u9ad8\u304f\u3001\u30dc\u30ad\u30e3\u30d6\u30e9\u30ea\u30fc\u304c\u8c4a\u5bcc\u3067\u3001\u304a\u3057\u3083\u3079\u308a\u3092\u5f97\u610f\u3068\u3059\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8074\u899a\u904e\u654f:<\/strong> \u6383\u9664\u6a5f\u306e\u97f3\u3001\u62cd\u624b\u3001\u82b1\u706b\u306a\u3069\u306e\u7279\u5b9a\u306e\u5927\u304d\u306a\u97f3\u306b\u5bfe\u3057\u3066\u3001\u6975\u5ea6\u306e\u4e0d\u5feb\u611f\u3084\u6050\u6016\u3092\u611f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u7279\u5fb4\u7684\u306a\u6027\u683c\uff08\u8d85\u793e\u4ea4\u6027\uff09<\/strong><\/p>\n\n\n\n<p>WBS\u306e\u60a3\u8005\u69d8\u306f\u3001\u975e\u5e38\u306b\u30e6\u30cb\u30fc\u30af\u306a\u5fc3\u7406\u7684\u7279\u6027\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30ab\u30af\u30c6\u30eb\u30d1\u30fc\u30c6\u30a3\u30fc\u30fb\u30d1\u30fc\u30bd\u30ca\u30ea\u30c6\u30a3:<\/strong> \u521d\u5bfe\u9762\u306e\u4eba\u306b\u5bfe\u3057\u3066\u3082\u7269\u6016\u3058\u305b\u305a\u3001\u975e\u5e38\u306b\u53cb\u597d\u7684\u3067\u3001\u9952\u820c\u306b\u793e\u4ea4\u7684\u306a\u4f1a\u8a71\u3092\u597d\u307f\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5171\u611f\u80fd\u529b\u306e\u9ad8\u3055:<\/strong> \u4ed6\u4eba\u306e\u611f\u60c5\u306b\u975e\u5e38\u306b\u654f\u611f\u3067\u3001\u512a\u3057\u3044\u6027\u683c\u306e\u65b9\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e0d\u5b89\u611f:<\/strong> \u793e\u4ea4\u7684\u3067\u3042\u308b\u4e00\u65b9\u3067\u3001\u65b0\u3057\u3044\u74b0\u5883\u3084\u7279\u5b9a\u306e\u72b6\u6cc1\u306b\u5bfe\u3057\u3066\u5f37\u3044\u4e0d\u5b89\u3092\u611f\u3058\u308b\u3068\u3044\u3046\u4e8c\u9762\u6027\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u4ee3\u8b1d\u3068\u305d\u306e\u4ed6\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7279\u767a\u6027\u4e73\u5150\u9ad8\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7:<\/strong> \u4e73\u5150\u671f\u306b\u8840\u4e2d\u306e\u30ab\u30eb\u30b7\u30a6\u30e0\u6fc3\u5ea6\u304c\u9ad8\u304f\u306a\u308a\u3001\u30a4\u30e9\u30a4\u30e9\u3001\u5614\u5410\u3001\u4fbf\u79d8\u306e\u539f\u56e0\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6210\u9577\u4e0d\u5168:<\/strong> \u51fa\u751f\u6642\u306e\u4f53\u91cd\u306f\u4f4e\u3081\u3067\u3001\u305d\u306e\u5f8c\u306e\u8eab\u9577\u30fb\u4f53\u91cd\u306e\u4f38\u3073\u3082\u3086\u3063\u304f\u308a\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u65e9\u671f\u8001\u5316\u69d8\u5909\u5316:<\/strong> \u82e5\u5e74\u671f\u304b\u3089\u767d\u9aea\u304c\u51fa\u305f\u308a\u3001\u76ae\u819a\u306e\u5f3e\u529b\u6027\u304c\u5931\u308f\u308c\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u7684\u554f\u984c:<\/strong> \u6b6f\u304c\u5c0f\u3055\u304b\u3063\u305f\u308a\uff08\u5c0f\u6b6f\u75c7\uff09\u3001\u6b6f\u4e26\u3073\u304c\u4e71\u308c\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>7q11.23\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong><\/p>\n\n\n\n<p>WBS\u306f\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u969b\u306e\u300c\u7d44\u63db\u3048\u300d\u306e\u30df\u30b9\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08De novo deletion\uff09\uff1a\u7d0499%\u4ee5\u4e0a<br>\u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u306b\u304a\u3044\u3066\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3059\u3002\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u306b\u5fae\u5c0f\u6b20\u5931\u304c\u751f\u3058\u305f\u3082\u306e\u3067\u3042\u308a\u3001\u4e21\u89aa\u306e\u751f\u6d3b\u7fd2\u6163\u3084\u80b2\u3066\u65b9\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3053\u306e\u5834\u5408\u3001\u6b21\u306b\u751f\u307e\u308c\u308b\u304a\u5b50\u69d8\uff08\u304d\u3087\u3046\u3060\u3044\uff09\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u6975\u3081\u3066\u4f4e\u3044\uff081%\u672a\u6e80\uff09\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d:<br>WBS\u3092\u6301\u3064\u65b9\u304c\u5b50\u4f9b\u3092\u6388\u304b\u3063\u305f\u5834\u5408\u300150%\u306e\u78ba\u7387\u3067\u304a\u5b50\u69d8\u306b\u907a\u4f1d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u975e\u5bfe\u7acb\u907a\u4f1d\u5b50\u9593\u76f8\u540c\u7d44\u63db\u3048\uff08NAHR\uff09:<br>7q11.23\u9818\u57df\u306f\u3001\u4f3c\u305f\u914d\u5217\u304c\u7e70\u308a\u8fd4\u3055\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u9032\u5316\u306e\u904e\u7a0b\u3067\u975e\u5e38\u306b\u4e0d\u5b89\u5b9a\u306a\u69cb\u9020\u3092\u3057\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u3053\u306e\u7279\u5b9a\u306e\u9818\u57df\u304c\u300c\u3046\u3063\u304b\u308a\u300d\u629c\u3051\u843d\u3061\u3066\u3057\u307e\u3046\u73fe\u8c61\u304c\u8d77\u3053\u308a\u3084\u3059\u3044\u306e\u3067\u3059\u3002<\/li>\n<\/ol>\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\uff08\u9854\u8c8c\u3001\u5fc3\u75be\u60a3\u3001\u6027\u683c\uff09\u304b\u3089\u7591\u3044\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>FISH\u6cd5:<br>\u6700\u3082\u4e00\u822c\u7684\u306a\u8a3a\u65ad\u65b9\u6cd5\u3067\u3059\u3002\u30a8\u30e9\u30b9\u30c1\u30f3\u907a\u4f1d\u5b50\uff08ELN\uff09\u306b\u7279\u7570\u7684\u306a\u86cd\u5149\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u3066\u30011\u672c\u5206\u304c\u6b20\u640d\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u8996\u899a\u7684\u306b\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<br>\u6b20\u5931\u306e\u7bc4\u56f2\u3092\u6b63\u78ba\u306b\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002FISH\u6cd5\u3067\u898b\u9003\u3055\u308c\u308b\u3088\u3046\u306a\u6975\u3081\u3066\u5fae\u5c0f\u306a\u6b20\u5931\u3082\u691c\u51fa\u53ef\u80fd\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81e8\u5e8a\u8a55\u4fa1:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u30a8\u30b3\u30fc:<\/strong> \u8840\u7ba1\u72ed\u7a84\u306e\u6709\u7121\u3092\u8abf\u3079\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8840\u6db2\u691c\u67fb:<\/strong> \u8840\u4e2d\u30ab\u30eb\u30b7\u30a6\u30e0\u6fc3\u5ea6\u3001\u814e\u6a5f\u80fd\u3092\u30c1\u30a7\u30c3\u30af\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>\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u4fee\u5fa9\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u5408\u4f75\u75c7\u306e\u7ba1\u7406\u3068\u9069\u5207\u306a\u7642\u80b2\u306b\u3088\u3063\u3066\u3001QOL\u3092\u5927\u304d\u304f\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5fc3\u8840\u7ba1\u7cfb\u306e\u7ba1\u7406\uff08\u6700\u512a\u5148\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5b9a\u671f\u7684\u306a\u5fc3\u30a8\u30b3\u30fc\u3001\u8840\u5727\u6e2c\u5b9a\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u91cd\u5ea6\u306e\u72ed\u7a84\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5916\u79d1\u7684\u306a\u624b\u8853\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6ce8\u610f\u70b9:<\/strong> \u9ebb\u9154\u306e\u30ea\u30b9\u30af\u304c\u901a\u5e38\u3088\u308a\u9ad8\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u6b6f\u79d1\u6cbb\u7642\u3084\u624b\u8853\u3067\u9ebb\u9154\u3092\u4f7f\u7528\u3059\u308b\u969b\u306f\u3001WBS\u306e\u7279\u6027\u3092\u719f\u77e5\u3057\u305f\u9ebb\u9154\u79d1\u533b\u306b\u3088\u308b\u7ba1\u7406\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u4e73\u5150\u671f\u306e\u6804\u990a\u30fb\u4ee3\u8b1d\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9ad8\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u30ab\u30eb\u30b7\u30a6\u30e0\u3084\u30d3\u30bf\u30df\u30f3D\u3092\u5236\u9650\u3057\u305f\u98df\u4e8b\u7642\u6cd5\u3092\u884c\u3044\u307e\u3059\u3002\u8131\u6c34\u75c7\u72b6\u306b\u3082\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u767a\u9054\u652f\u63f4\u30fb\u6559\u80b2\uff08\u7642\u80b2\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u4ecb\u5165:<\/strong> \u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09\u3084\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3092\u7d44\u307f\u5408\u308f\u305b\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8996\u7a7a\u9593\u8a8d\u77e5\u306e\u30b5\u30dd\u30fc\u30c8:<\/strong> \u7a7a\u9593\u628a\u63e1\u304c\u82e6\u624b\u306a\u305f\u3081\u3001\u8996\u899a\u7684\u306a\u6307\u793a\uff08\u56f3\u89e3\u306a\u3069\uff09\u3060\u3051\u3067\u306a\u304f\u3001\u672c\u4eba\u304c\u5f97\u610f\u306a\u300c\u8a00\u8449\u300d\u306b\u3088\u308b\u8aac\u660e\u3092\u4f75\u7528\u3059\u308b\u5b66\u7fd2\u652f\u63f4\u304c\u52b9\u679c\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u97f3\u697d\u7642\u6cd5:<\/strong> WBS\u306e\u65b9\u306f\u97f3\u697d\u306b\u5bfe\u3057\u3066\u975e\u5e38\u306b\u9ad8\u3044\u95a2\u5fc3\u3068\u624d\u80fd\u3092\u793a\u3059\u3053\u3068\u304c\u591a\u304f\u3001\u97f3\u697d\u3092\u901a\u3058\u305f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4\u304c\u6709\u52b9\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u8074\u899a\u30fb\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8074\u899a\u904e\u654f\u306b\u5bfe\u3057\u3066\u306f\u3001\u30a4\u30e4\u30fc\u30de\u30d5\u306e\u6d3b\u7528\u3084\u3001\u5927\u304d\u306a\u97f3\u304c\u9cf4\u308b\u3053\u3068\u3092\u4e8b\u524d\u306b\u4f1d\u3048\u308b\uff08\u4e88\u671f\u3055\u305b\u308b\uff09\u3053\u3068\u3067\u30d1\u30cb\u30c3\u30af\u3092\u9632\u304e\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u793e\u4ea4\u7684\u3059\u304e\u308b\u3086\u3048\u306e\u30c8\u30e9\u30d6\u30eb\uff08\u898b\u77e5\u3089\u306c\u4eba\u306b\u3064\u3044\u3066\u3044\u304f\u7b49\uff09\u3092\u9632\u3050\u305f\u3081\u306e\u793e\u4f1a\u6027\u8a13\u7df4\u3082\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u751f\u5b58\u671f\u9593:<\/strong> \u5fc3\u8840\u7ba1\u7cfb\u306e\u5408\u4f75\u75c7\u304c\u9069\u5207\u306b\u7ba1\u7406\u3055\u308c\u3066\u3044\u308c\u3070\u3001\u5bff\u547d\u305d\u306e\u3082\u306e\u306f\u4e00\u822c\u306e\u65b9\u3068\u5927\u304d\u304f\u5909\u308f\u3089\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u7acb\u5ea6:<\/strong> \u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u3088\u308a\u307e\u3059\u304c\u3001\u6210\u4eba\u5f8c\u306f\u5c31\u52b4\u652f\u63f4\u3084\u793e\u4f1a\u8cc7\u6e90\u3092\u5229\u7528\u3057\u306a\u304c\u3089\u81ea\u7acb\u3057\u305f\u751f\u6d3b\u3092\u9001\u308b\u65b9\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u52a0\u9f62\u306e\u5f71\u97ff:<\/strong> \u52a0\u9f62\u3068\u3068\u3082\u306b\u8840\u7ba1\u306e\u786c\u5316\u3084\u9ad8\u8840\u5727\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308b\u305f\u3081\u3001\u6210\u4eba\u671f\u4ee5\u964d\u3082\u751f\u6daf\u306b\u308f\u305f\u308b\u5faa\u74b0\u5668\u79d1\u3067\u306e\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u304c\u5fc5\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>Williams-Beuren syndrome\uff08\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u30fb\u30dc\u30a4\u30ec\u30f3\u75c7\u5019\u7fa4\uff09\u306f\u30017\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u306b\u3042\u308b\u300c\u30a8\u30e9\u30b9\u30c1\u30f3\u300d\u306a\u3069\u306e\u5927\u5207\u306a\u8a2d\u8a08\u56f3\u304c\u3001\u307b\u3093\u306e\u5c11\u3057\u8db3\u308a\u306a\u3044\uff08\u5fae\u5c0f\u6b20\u5931\uff09\u3053\u3068\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u304a\u5b50\u69d8\u306f\u3001\u975e\u5e38\u306b\u8868\u60c5\u8c4a\u304b\u3067\u3001\u97f3\u697d\u3068\u304a\u3057\u3083\u3079\u308a\u304c\u5927\u597d\u304d\u306a\u3001\u3068\u3066\u3082\u793e\u4ea4\u7684\u306a\u6027\u683c\u3068\u3044\u3046\u7d20\u6674\u3089\u3057\u3044\u500b\u6027\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u5fc3\u81d3\u306e\u8840\u7ba1\u304c\u72ed\u304f\u306a\u308a\u3084\u3059\u304b\u3063\u305f\u308a\u3001\u5927\u304d\u306a\u97f3\u304c\u82e6\u624b\u3060\u3063\u305f\u308a\u3001\u7a7a\u9593\u3092\u628a\u63e1\u3059\u308b\u306e\u304c\u5c11\u3057\u96e3\u3057\u304b\u3063\u305f\u308a\u3068\u3044\u3063\u305f\u9762\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u969b\u3001\u3054\u5bb6\u65cf\u306f\u4e0d\u5b89\u306b\u601d\u308f\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001WBS\u306e\u304a\u5b50\u69d8\u306f\u300c\u8a00\u8449\u300d\u3092\u4ecb\u3057\u305f\u5fc3\u306e\u4ea4\u6d41\u304c\u3068\u3066\u3082\u5f97\u610f\u3067\u3059\u3002\u305d\u306e\u300c\u5f97\u610f\u300d\u3092\u4f38\u3070\u3057\u306a\u304c\u3089\u3001\u5fc3\u81d3\u306e\u5b9a\u671f\u5065\u8a3a\u3092\u3057\u3063\u304b\u308a\u53d7\u3051\u3001\u65e9\u671f\u304b\u3089\u7642\u80b2\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u8c4a\u304b\u306a\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u5c02\u9580\u533b\u306e\u30c1\u30fc\u30e0\u3068\u5171\u306b\u3001\u304a\u5b50\u69d8\u306e\u8f1d\u304f\u7b11\u9854\u3068\u8c4a\u304b\u306a\u500b\u6027\u3092\u5927\u5207\u306b\u80b2\u3093\u3067\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Williams, J. C., et al.<\/strong> (1961). <em>Supravalvular aortic stenosis.<\/em> Circulation.\n<ul class=\"wp-block-list\">\n<li>\uff08\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u535a\u58eb\u3089\u306b\u3088\u308b\u3001\u5fc3\u8840\u7ba1\u75be\u60a3\u3068\u9854\u8c8c\u306e\u95a2\u9023\u3092\u521d\u3081\u3066\u793a\u3057\u305f\u6b74\u53f2\u7684\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Beuren, A. J., et al.<\/strong> (1962). <em>Supravalvular aortic stenosis in association with mental retardation and a peculiar facial appearance.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u30dc\u30a4\u30ec\u30f3\u535a\u58eb\u3089\u306b\u3088\u308b\u3001\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u75c7\u4f8b\u306b\u3064\u3044\u3066\u306e\u72ec\u7acb\u3057\u305f\u5831\u544a\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Ewart, A. K., et al.<\/strong> (1993). <em>Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.<\/em> Nature Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u30a8\u30e9\u30b9\u30c1\u30f3\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u89e3\u660e\u3057\u305f\u6700\u91cd\u8981\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Williams Syndrome<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u6700\u65b0\u306e\u533b\u5b66\u7684\u77e5\u898b\u3001\u8a3a\u65ad\u3001\u7ba1\u7406\u6307\u91dd\u304c\u7db2\u7f85\u3055\u308c\u3066\u3044\u308b\u4e16\u754c\u7684\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>Williams Syndrome: A guide for families<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u3001\u5bb6\u65cf\u5411\u3051\u306e\u5b9f\u8df5\u7684\u304b\u3064\u6e29\u304b\u3044\u30ac\u30a4\u30c9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Pober, B. R.<\/strong> (2010). <em>Williams-Beuren Syndrome.<\/em> New England Journal of Medicine.\n<ul class=\"wp-block-list\">\n<li>\uff08WBS\u306e\u81e8\u5e8a\u3001\u907a\u4f1d\u5b66\u3001\u7ba1\u7406\u306b\u95a2\u3059\u308b\u5305\u62ec\u7684\u306a\u30ec\u30d3\u30e5\u30fc\u3002\uff09<\/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-17522","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\/17522","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":1,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17522\/revisions"}],"predecessor-version":[{"id":17524,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17522\/revisions\/17524"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17522"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}