{"id":17476,"date":"2026-01-22T05:47:46","date_gmt":"2026-01-22T05:47:46","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17476"},"modified":"2026-01-22T05:49:19","modified_gmt":"2026-01-22T05:49:19","slug":"trichorhinophalangeal-syndrome-type-2trps2","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/trichorhinophalangeal-syndrome-type-2trps2\/","title":{"rendered":"Trichorhinophalangeal syndrome type 2(TRPS2)"},"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>Langer-Giedion syndrome (LGS)<\/strong>\uff08\u30e9\u30f3\u30ac\u30fc\u30fb\u30ae\u30c7\u30aa\u30f3\u75c7\u5019\u7fa4\uff09<\/li>\n\n\n\n<li><strong>TRPS II<\/strong><\/li>\n\n\n\n<li><strong>8q24.1\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\uff088q24.1 microdeletion syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>TRPS with Multiple Exostoses<\/strong>\uff08\u591a\u767a\u6027\u5916\u9aa8\u816b\u3092\u4f34\u3046TRPS\uff09<\/li>\n\n\n\n<li><strong>Giedion-Langer syndrome<\/strong><\/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 \u9577\u8155\uff08q\uff0924.11-q24.13\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931<\/strong><\/p>\n\n\n\n<p>TRPS2\u306f\u30018\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306b\u3042\u308b\u300c8q24.1\u300d\u3068\u3044\u3046\u30d0\u30f3\u30c9\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\u75be\u60a3\u306f\u3001\u96a3\u308a\u5408\u3063\u305f\u8907\u6570\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u4e00\u5ea6\u306b\u5931\u308f\u308c\u308b\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4\u300d\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>TRPS2\u306e\u81e8\u5e8a\u50cf\u3092\u6c7a\u5b9a\u3065\u3051\u308b\u306e\u306f\u3001\u4e3b\u306b\u4ee5\u4e0b\u306e2\u3064\u306e\u907a\u4f1d\u5b50\u306e\u540c\u6642\u6b20\u5931\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>TRPS1\u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u8edf\u9aa8\u7d30\u80de\u306e\u5897\u6b96\u3084\u5206\u5316\u3001\u6bdb\u5305\u306e\u767a\u9054\u3092\u5236\u5fa1\u3059\u308b\u8ee2\u5199\u56e0\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u306e\u5f71\u97ff\uff1aTRPS\u7279\u6709\u306e\u300c\u6bdb\u9aea\u306e\u8584\u3055\u300d\u300c\u68a8\u72b6\u306e\u9f3b\u300d\u300c\u6307\u306e\u95a2\u7bc0\u306e\u5909\u5f62\u300d\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u3053\u308c\u306e\u307f\u304c\u6b20\u5931\u3057\u305f\u5834\u5408\u306fTRPS1\u578b\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>EXT1\u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u9aa8\u306e\u6210\u9577\u677f\u306b\u304a\u3044\u3066\u3001\u6b63\u5e38\u306a\u8edf\u9aa8\u5f62\u6210\u3092\u52a9\u3051\u308b\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u306e\u5f71\u97ff\uff1a\u5168\u8eab\u306e\u9aa8\u306e\u8868\u9762\u306b\u826f\u6027\u306e\u816b\u760d\u304c\u3067\u304d\u308b\u300c\u591a\u767a\u6027\u5916\u9aa8\u816b\u300d\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>TRPS2\u306f\u3001\u3053\u306e2\u3064\u306e\u907a\u4f1d\u5b50\uff08\u304a\u3088\u3073\u5468\u8fba\u907a\u4f1d\u5b50\uff09\u304c\u540c\u6642\u306b\u5931\u308f\u308c\u308b\u305f\u3081\u30011\u578b\uff08TRPS1\uff09\u306e\u75c7\u72b6\u306b\u52a0\u3048\u3066\u3001\u5916\u9aa8\u816b\u3084\u77e5\u7684\u969c\u5bb3\u3001\u767a\u9054\u9045\u6ede\u306a\u3069\u306e\u3088\u308a\u5e83\u7bc4\u306a\u75c7\u72b6\u304c\u73fe\u308c\u308b\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u6975\u3081\u3066\u7a00\uff08Ultra-rare\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u63a8\u5b9a\u983b\u5ea6:<\/strong> \u6b63\u78ba\u306a\u7d71\u8a08\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u4e16\u754c\u7684\u306b\u898b\u3066\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002\u767e\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u306e\u983b\u5ea6\u3068\u63a8\u6e2c\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\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>\u8a3a\u65ad\u306e\u73fe\u72b6:<\/strong> \u7279\u5fb4\u7684\u306a\u5916\u898b\u3068\u30ec\u30f3\u30c8\u30b2\u30f3\u6240\u898b\uff08\u5916\u9aa8\u816b\uff09\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u3088\u308a\u3001\u81e8\u5e8a\u7684\u306b\u7591\u308f\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u6700\u7d42\u78ba\u5b9a\u306b\u306f\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u306b\u3088\u308b<strong>\u5fae\u5c0f<\/strong>\u6b20\u5931\u306e\u8a3c\u660e\u304c\u5fc5\u8981\u3067\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>TRPS2\u306f\u3001\u75be\u60a3\u540d\u304c\u793a\u3059\u300c\u6bdb\u9aea\uff08Tricho\uff09\u300d\u300c\u9f3b\uff08Rhino\uff09\u300d\u300c\u6307\u7bc0\uff08Phalangeal\uff09\u300d\u306e\u7570\u5e38\u306b\u52a0\u3048\u3001\u9aa8\u306e\u816b\u760d\uff08\u5916\u9aa8\u816b\uff09\u3068\u767a\u9054\u9762\u306e\u7279\u5fb4\u3092\u4f75\u305b\u6301\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Facial Features\uff09<\/strong><\/p>\n\n\n\n<p>\u8a3a\u65ad\u306e\u6c7a\u3081\u624b\u3068\u306a\u308b\u975e\u5e38\u306b\u7279\u7570\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>\u9f3b:<\/strong> <strong>\u68a8\u72b6\u9f3b\uff08Pear-shaped nose\uff09<\/strong>\u3002\u9f3b\u5148\u304c\u3075\u3063\u304f\u3089\u3068\u4e38\u304f\u3001\u9f3b\u7ffc\uff08\u5c0f\u9f3b\uff09\u304c\u6a2a\u306b\u5e83\u304c\u3063\u305f\u68a8\u306e\u3088\u3046\u306a\u5f62\u3092\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4eba\u4e2d:<\/strong> \u9f3b\u306e\u4e0b\u306e\u6e9d\uff08\u4eba\u4e2d\uff09\u304c\u9577\u304f\u3001\u5e73\u5766\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5507:<\/strong> \u4e0a\u5507\u304c\u975e\u5e38\u306b\u8584\u304f\u3001\u53e3\u89d2\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8033:<\/strong> \u5927\u304d\u304f\u3001\u7a81\u51fa\u3057\u305f\u8033\uff08\u7acb\u3061\u8033\uff09\u304c\u7279\u5fb4\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6bdb\u9aea\u3068\u76ae\u819a\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u758e\u6bdb:<\/strong> \u751f\u307e\u308c\u305f\u6642\u304b\u3089\u3001\u3042\u308b\u3044\u306f\u4e73\u5150\u671f\u304b\u3089\u9aea\u306e\u6bdb\u304c\u975e\u5e38\u306b\u7d30\u304f\u3001\u307e\u3070\u3089\u3067\u3001\u6210\u9577\u304c\u9045\u3044\u3067\u3059\u3002\u982d\u9802\u90e8\u304b\u3089\u8584\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7709\u6bdb:<\/strong> \u7709\u6bdb\u306e\u5916\u5074\uff08\u8033\u306b\u8fd1\u3044\u65b9\uff09\u304c\u8584\u3044\u3001\u3042\u308b\u3044\u306f\u6d88\u5931\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u76ae\u819a:<\/strong> \u5e7c\u5c11\u671f\u306b\u76ae\u819a\u304c\u5f1b\u7de9\uff08\u305f\u308b\u307f\uff09\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u6539\u5584\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u307e\u305f\u3001\u5927\u304d\u306a\u6bcd\u6591\uff08\u3042\u3056\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u9aa8\u683c\u304a\u3088\u3073\u6307\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u591a\u767a\u6027\u5916\u9aa8\u816b\uff08Multiple Exostoses\uff09:<br>TRPS2\u306e\u6700\u3082\u91cd\u8981\u306a\u7279\u5fb4\u306e\u4e00\u3064\u3067\u3059\u3002\u9577\u7ba1\u9aa8\uff08\u8155\u3084\u8db3\u306e\u9aa8\uff09\u306e\u672b\u7aef\u3001\u808b\u9aa8\u3001\u80a9\u7532\u9aa8\u306a\u3069\u306e\u8868\u9762\u306b\u826f\u6027\u306e\u9aa8\u816b\u760d\u304c\u591a\u767a\u3057\u307e\u3059\u3002\u5e7c\u5150\u671f\u304b\u3089\u51fa\u73fe\u3057\u3001\u95a2\u7bc0\u306e\u53ef\u52d5\u57df\u5236\u9650\u3084\u75db\u307f\u3001\u795e\u7d4c\u5727\u8feb\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5186\u9310\u5f62\u9aa8\u7aef\uff08Cone-shaped epiphyses\uff09:<br>\u6307\u306e\u95a2\u7bc0\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\u3092\u64ae\u308b\u3068\u3001\u6210\u9577\u677f\u306e\u90e8\u5206\u304c\u300c\u30a2\u30a4\u30b9\u30af\u30ea\u30fc\u30e0\u306e\u30b3\u30fc\u30f3\u300d\u306e\u3088\u3046\u306a\u4e09\u89d2\u5f62\u3092\u5448\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u6307\u304c\u592a\u304f\u77ed\u304f\u898b\u3048\u305f\u308a\u3001\u66f2\u304c\u3063\u305f\u308a\uff08\u6307\u66f2\u304c\u308a\uff09\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u8eab\u9577:<\/strong> \u9aa8\u306e\u6210\u9577\u7570\u5e38\u306b\u3088\u308a\u3001\u591a\u304f\u306e\u5834\u5408\u3067\u6700\u7d42\u8eab\u9577\u304c\u4f4e\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7ffc\u72b6\u80a9\u7532:<\/strong> \u80a9\u7532\u9aa8\u304c\u5f8c\u308d\u306b\u7a81\u304d\u51fa\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u795e\u7d4c\u767a\u9054\u3068\u77e5\u7684\u6a5f\u80fd<\/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\u3092\u4f34\u3046\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u6ede:<\/strong> \u8a00\u8a9e\u306e\u767a\u9054\u3084\u904b\u52d5\u6a5f\u80fd\u306e\u7372\u5f97\u306b\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u683c:<\/strong> \u4e00\u822c\u7684\u306b\u793e\u4ea4\u7684\u3067\u4eba\u61d0\u3063\u3053\u3044\u6027\u683c\u306e\u65b9\u304c\u591a\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u95a2\u7bc0\u306e\u904e\u4f38\u5c55:<\/strong> \u95a2\u7bc0\u304c\u901a\u5e38\u3088\u308a\u67d4\u3089\u304b\u304f\u3001\u8131\u81fc\u3057\u3084\u3059\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8074\u899a\u7570\u5e38:<\/strong> \u6162\u6027\u7684\u306a\u4e2d\u8033\u708e\u306b\u3088\u308b\u4f1d\u97f3\u96e3\u8074\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u8840\u5727:<\/strong> \u4e73\u5150\u671f\u306b\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\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>8q24.11-q24.13\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u5f62\u5f0f\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5f62\u5f0f:<\/strong><strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d<\/strong> \u3067\u3059\u3002\n<ul class=\"wp-block-list\">\n<li>\u7247\u65b9\u306e8\u756a\u67d3\u8272\u4f53\u3067\u3053\u306e\u9818\u57df\u304c\u6b20\u3051\u3066\u3044\u308b\u3060\u3051\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08De novo deletion\uff09\uff1a\u7d0495%\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\u3042\u308a\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u306b\u5fae\u5c0f\u6b20\u5931\u304c\u751f\u3058\u305f\u3082\u306e\u3067\u3059\u3002\u3057\u305f\u304c\u3063\u3066\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><strong>\u7a00\u306a\u7d99\u627f:<\/strong> \u8efd\u75c7\u306e\u89aa\u304b\u3089\u907a\u4f1d\u3059\u308b\u30b1\u30fc\u30b9\u3082\u7a00\u306b\u5831\u544a\u3055\u308c\u3066\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>\u81e8\u5e8a\u7684\u306a\u5916\u898b\u7684\u7279\u5fb4\u3068\u30ec\u30f3\u30c8\u30b2\u30f3\u6240\u898b\u306b\u57fa\u3065\u304d\u3001\u30b2\u30ce\u30e0\u691c\u67fb\u3067\u78ba\u5b9a\u8a3a\u65ad\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u81e8\u5e8a\u8a55\u4fa1:<br>\u68a8\u72b6\u9f3b\u3001\u758e\u6bdb\u3001\u5916\u9aa8\u816b\u306e\u4e09\u5fb4\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u753b\u50cf\u8a3a\u65ad\uff08X\u7dda\u691c\u67fb\uff09:<br>\u624b\u306e\u6307\u306e\u300c\u5186\u9310\u5f62\u9aa8\u7aef\u300d\u304a\u3088\u3073\u3001\u5168\u8eab\u306e\u300c\u591a\u767a\u6027\u5916\u9aa8\u816b\u300d\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u3053\u308c\u306fTRPS2\u3092\u5f37\u304f\u793a\u5506\u3059\u308b\u6240\u898b\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<br>\u78ba\u5b9a\u8a3a\u65ad\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3067\u3059\u30028q24.1\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\u306e\u7bc4\u56f2\u3092\u7cbe\u5bc6\u306b\u7279\u5b9a\u3057\u3001TRPS1\u304a\u3088\u3073EXT1\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3092\u8a3c\u660e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>FISH\u6cd5:<br>\u7279\u5b9a\u306e\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u3066\u30018q24.1\u9818\u57df\u306e\u6b20\u5931\u3092\u8996\u899a\u7684\u306b\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u73fe\u4ee3\u306e\u533b\u5b66\u306b\u304a\u3044\u3066\u3001\u5931\u308f\u308c\u305f\u907a\u4f1d\u5b50\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6cbb\u7642\u306f\u3001\u5404\u75c7\u72b6\u306b\u5bfe\u3059\u308b**\u300c\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5bfe\u75c7\u7642\u6cd5\u300d**\u3068QOL\u306e\u7dad\u6301\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6574\u5f62\u5916\u79d1\u7684\u4ecb\u5165\uff08\u6700\u91cd\u8981\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5916\u9aa8\u816b\u306e\u7ba1\u7406:<\/strong> \u5b9a\u671f\u7684\u306a\u30ec\u30f3\u30c8\u30b2\u30f3\u691c\u67fb\u3067\u816b\u760d\u306e\u5897\u5927\u3092\u76e3\u8996\u3057\u307e\u3059\u3002\u75db\u307f\u3001\u95a2\u7bc0\u53ef\u52d5\u57df\u306e\u5236\u9650\u3001\u8840\u7ba1\u3084\u795e\u7d4c\u306e\u5727\u8feb\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5916\u79d1\u7684\u306a\u5207\u9664\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5909\u5f62\u77ef\u6b63:<\/strong> \u6307\u3084\u56db\u80a2\u306e\u5909\u5f62\u304c\u8457\u3057\u3044\u5834\u5408\u3001\u6a5f\u80fd\u7dad\u6301\u3092\u76ee\u7684\u3068\u3057\u305f\u77ef\u6b63\u624b\u8853\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6ce8\u610f\u70b9:<\/strong> \u5916\u9aa8\u816b\u306f\u7a00\u306b\u60aa\u6027\u5316\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u6210\u4eba\u671f\u4ee5\u964d\u3082\u9577\u671f\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6559\u80b2\u30fb\u767a\u9054\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2:<\/strong> \u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3092\u7d44\u307f\u5408\u308f\u305b\u3001\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5225\u652f\u63f4\u6559\u80b2:<\/strong> \u77e5\u7684\u30ec\u30d9\u30eb\u3084\u500b\u3005\u306e\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u500b\u5225\u306e\u652f\u63f4\u8a08\u753b\u306b\u57fa\u3065\u304d\u3001\u6559\u80b2\u3092\u63d0\u4f9b\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5916\u898b\u3078\u306e\u914d\u616e\u3068\u30b1\u30a2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u76ae\u819a\u30fb\u6bdb\u9aea\u30b1\u30a2:<\/strong> \u76ae\u819a\u306e\u5f1b\u7de9\u3084\u8584\u6bdb\u306b\u5bfe\u3059\u308b\u9069\u5207\u306a\u30b1\u30a2\u3002\u8584\u6bdb\u304c\u5fc3\u7406\u7684\u5f71\u97ff\u3092\u53ca\u307c\u3059\u5834\u5408\u306f\u3001\u30a6\u30a3\u30c3\u30b0\u306e\u6d3b\u7528\u306a\u3069\u3082\u9078\u629e\u80a2\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u7ba1\u7406:<\/strong> \u6b6f\u4e26\u3073\u306e\u554f\u984c\uff08\u4e0d\u6b63\u54ac\u5408\u306a\u3069\uff09\u306b\u5bfe\u3057\u3001\u77ef\u6b63\u6b6f\u79d1\u306b\u3088\u308b\u7ba1\u7406\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u8074\u899a\u30fb\u305d\u306e\u4ed6\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8033\u9f3b\u79d1\u7684\u30d5\u30a9\u30ed\u30fc:<\/strong> \u96e3\u8074\u306e\u539f\u56e0\u3068\u306a\u308b\u4e2d\u8033\u708e\u306e\u65e9\u671f\u767a\u898b\u3068\u6cbb\u7642\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0:<\/strong> \u5bb6\u65cf\u306b\u5bfe\u3057\u3001\u518d\u767a\u30ea\u30b9\u30af\u3084\u75be\u60a3\u306e\u6027\u8cea\u306b\u3064\u3044\u3066\u6b63\u78ba\u306a\u60c5\u5831\u63d0\u4f9b\u3068\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3044\u307e\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> \u91cd\u7be4\u306a\u5185\u90e8\u5947\u5f62\u3092\u4f34\u3046\u3053\u3068\u306f\u5c11\u306a\u304f\u3001\u9069\u5207\u306a\u7ba1\u7406\uff08\u7279\u306b\u5916\u9aa8\u816b\u306e\u5408\u4f75\u75c7\u7ba1\u7406\uff09\u304c\u884c\u308f\u308c\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\u9069\u5207\u306a\u652f\u63f4\u304c\u3042\u308c\u3070\u3001\u591a\u304f\u306e\u60a3\u8005\u304c\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6210\u4eba\u671f\u306e\u8ab2\u984c:<\/strong> \u6210\u4eba\u5f8c\u306f\u3001\u5916\u9aa8\u816b\u306b\u3088\u308b\u6162\u6027\u7684\u306a\u75db\u307f\u3084\u95a2\u7bc0\u75c7\u3001\u304a\u3088\u3073\u816b\u760d\u306e\u60aa\u6027\u5316\u306b\u5bfe\u3059\u308b\u7d99\u7d9a\u7684\u306a\u76e3\u8996\u304cQOL\u3092\u5de6\u53f3\u3057\u307e\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>Trichorhinophalangeal syndrome type 2 (TRPS2) \u306f\u30018\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u306b\u3042\u308b\u3001\u9aa8\u3084\u6bdb\u9aea\u306e\u6210\u9577\u3092\u53f8\u308b\u5927\u5207\u306a\u8a2d\u8a08\u56f3\uff08\u907a\u4f1d\u5b50\uff09\u304c\u3001\u307b\u3093\u306e\u308f\u305a\u304b\u306b\u5931\u308f\u308c\u308b\uff08\u5fae\u5c0f\u6b20\u5931\uff09\u3053\u3068\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u68a8\u306e\u3088\u3046\u306a\u5f62\u306e\u4e38\u3044\u304a\u9f3b\u300d\u3084\u300c\u8584\u304f\u3066\u7d30\u3044\u9aea\u306e\u6bdb\u300d\u3001\u305d\u3057\u3066\u300c\u9aa8\u306e\u8868\u9762\u306b\u3067\u304d\u308b\u30b3\u30d6\uff08\u5916\u9aa8\u816b\uff09\u300d\u304c\u5927\u304d\u306a\u7279\u5fb4\u3067\u3059\u3002\u3053\u308c\u3089\u306f\u3001\u304a\u96a3\u540c\u58eb\u306b\u3042\u308b2\u3064\u306e\u907a\u4f1d\u5b50\u304c\u4e00\u7dd2\u306b\u6b20\u3051\u3066\u3057\u307e\u3046\u305f\u3081\u306b\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u9aa8\u306b\u30b3\u30d6\u304c\u3067\u304d\u308b\u300d\u3068\u805e\u304f\u3068\u4e0d\u5b89\u306b\u601d\u308f\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u591a\u304f\u306f\u826f\u6027\u306e\u3082\u306e\u3067\u3001\u75db\u307f\u3084\u52d5\u304d\u306b\u304f\u3055\u304c\u3042\u308b\u5834\u5408\u306b\u306f\u6574\u5f62\u5916\u79d1\u306e\u624b\u8853\u3067\u5bfe\u5fdc\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001TRPS2\u306e\u304a\u5b50\u69d8\u305f\u3061\u306f\u3068\u3066\u3082\u4eba\u61d0\u3063\u3053\u304f\u3001\u660e\u308b\u3044\u6027\u683c\u306e\u65b9\u304c\u591a\u3044\u3068\u3044\u3046\u7d20\u6575\u306a\u4e00\u9762\u3082\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u65e9\u304f\u304b\u3089\u6574\u5f62\u5916\u79d1\u3084\u7642\u80b2\u306e\u5c02\u9580\u5bb6\u3068\u3064\u306a\u304c\u308a\u3001\u304a\u5b50\u69d8\u304c\u81ea\u5206\u306e\u30da\u30fc\u30b9\u3067\u5065\u3084\u304b\u306b\u6210\u9577\u3057\u3066\u3044\u3051\u308b\u3088\u3046\u3001\u793e\u4f1a\u5168\u4f53\u3067\u6e29\u304b\u304f\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\u5143<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Langer, L. O., Giedion, A., et al.<\/strong> (1984). <em>Trichorhinophalangeal syndrome of the Giedion type (trichorhinophalangeal syndrome II; Langer-Giedion syndrome).<\/em> American Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u30e9\u30f3\u30ac\u30fc\u535a\u58eb\u3068\u30ae\u30c7\u30aa\u30f3\u535a\u58eb\u306b\u3088\u308b\u3001\u672c\u75c7\u5019\u7fa4\u3092\u81e8\u5e8a\u7684\u306b\u5b9a\u7fa9\u3057\u305f\u6b74\u53f2\u7684\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>L\u00fcdecke, B., et al.<\/strong> (1995). <em>Molecular dissection of submicroscopic deletions in 8q24.1 in patients with Langer-Giedion syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff088q24.1\u306e<strong>\u5fae\u5c0f<\/strong>\u6b20\u5931\u3092\u5206\u5b50\u30ec\u30d9\u30eb\u3067\u89e3\u6790\u3057\u3001\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u3042\u308b\u3053\u3068\u3092\u8a3c\u660e\u3057\u305f\u6587\u732e\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Momeni, P., et al.<\/strong> (2000). <em>Mutations in TRPS1 were identified in patients with trichorhinophalangeal syndrome type I, II and III.<\/em> Nature Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08TRPS1\u907a\u4f1d\u5b50\u306e\u540c\u5b9a\u3068\u3001\u5404\u30bf\u30a4\u30d7\u306b\u304a\u3051\u308b\u5f79\u5272\u3092\u89e3\u660e\u3057\u305f\u91cd\u8981\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Trichorhinophalangeal Syndrome<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u6700\u65b0\u306e\u533b\u5b66\u7684\u77e5\u898b\u306b\u57fa\u3065\u304f\u8a3a\u65ad\u30fb\u7ba1\u7406\u30fb\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\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>8q24.1 microdeletions (Langer-Giedion syndrome \/ TRPS II)<\/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\u3054\u5bb6\u65cf\u5411\u3051\u306e\u308f\u304b\u308a\u3084\u3059\u3044\u30ac\u30a4\u30c9\u8cc7\u6599\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Orphanet<\/strong>: <em>Langer-Giedion syndrome (ORPHA:250)<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u75be\u60a3\u306e\u56fd\u969b\u7684\u306a\u30dd\u30fc\u30bf\u30eb\u30b5\u30a4\u30c8\u306b\u3088\u308b\u75c5\u614b\u6982\u8981\u3068\u30ea\u30bd\u30fc\u30b9\u60c5\u5831\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-17476","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\/17476","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/genetic-screening"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17476\/revisions"}],"predecessor-version":[{"id":17479,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17476\/revisions\/17479"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17476"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}