{"id":17448,"date":"2026-01-22T05:20:34","date_gmt":"2026-01-22T05:20:34","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17448"},"modified":"2026-01-22T05:21:14","modified_gmt":"2026-01-22T05:21:14","slug":"silver-russell-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/silver-russell-syndrome\/","title":{"rendered":"Silver-Russell syndrome"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>SRS<\/strong><\/li>\n\n\n\n<li><strong>Russell-Silver syndrome (RSS)<\/strong><\/li>\n\n\n\n<li><strong>\u30b7\u30eb\u30d0\u30fc\u30fb\u30e9\u30c3\u30bb\u30eb\u578b\u5c0f\u4eba\u75c7<\/strong><\/li>\n\n\n\n<li><strong>11p15.5\u6b20\u5931\/\u91cd\u8907\u75c7\u5019\u7fa4\uff08\u4e00\u90e8\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\uff09<\/strong><\/li>\n\n\n\n<li><strong>7\u756a\u67d3\u8272\u4f53\u6bcd\u6027\u5358\u89aa\u6027\u4e8c\u500d\u4f53 (upd(7)mat)<\/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>\u4e3b\u306b11\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0915.5\u9818\u57df\u3001\u304a\u3088\u30737\u756a\u67d3\u8272\u4f53\u5168\u4f53<\/strong><\/p>\n\n\n\n<p>\u30b7\u30eb\u30d0\u30fc\u30fb\u30e9\u30c3\u30bb\u30eb\u75c7\u5019\u7fa4\u306f\u3001\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u306e\u300c\u5869\u57fa\u914d\u5217\u306e\u7570\u5e38\u300d\u3067\u306f\u306a\u304f\u3001\u907a\u4f1d\u5b50\u304c\u50cd\u304f\u30b9\u30a4\u30c3\u30c1\u306e\u5207\u308a\u66ff\u3048\u30df\u30b9\u3067\u3042\u308b\u300c\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30af\u30b9\u7570\u5e38\u300d\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u306e\u304c\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>11p15.5\u9818\u57df\uff08\u7d0430\u301c60\uff05\uff09:<br>\u3053\u306e\u9818\u57df\u306f\u300c\u5237\u308a\u8fbc\u307f\uff08\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\uff09\u9818\u57df\u300d\u3068\u547c\u3070\u308c\u3001\u6210\u9577\u3092\u4fc3\u9032\u3059\u308b\u907a\u4f1d\u5b50\uff08IGF2\u306a\u3069\uff09\u3068\u6291\u5236\u3059\u308b\u907a\u4f1d\u5b50\uff08H19\u306a\u3069\uff09\u304c\u7d76\u5999\u306a\u30d0\u30e9\u30f3\u30b9\u3067\u50cd\u3044\u3066\u3044\u307e\u3059\u3002SRS\u3067\u306f\u3001\u3053\u306e\u9818\u57df\u306e\u30e1\u30c1\u30eb\u5316\u7570\u5e38\uff08\u4f4e\u30e1\u30c1\u30eb\u5316\uff09\u306b\u3088\u308a\u3001\u6210\u9577\u4fc3\u9032\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u304c\u5f31\u307e\u308a\u3001\u9006\u306b\u6291\u5236\u907a\u4f1d\u5b50\u304c\u5f37\u304f\u50cd\u3044\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>7\u756a\u67d3\u8272\u4f53\uff08\u7d045\u301c10\uff05\uff09:<br>\u300c7\u756a\u67d3\u8272\u4f53\u6bcd\u6027\u5358\u89aa\u6027\u4e8c\u500d\u4f53\uff08upd(7)mat\uff09\u300d\u3068\u547c\u3070\u308c\u307e\u3059\u3002\u901a\u5e38\u3001\u7236\u3068\u6bcd\u304b\u30891\u672c\u305a\u3064\u53d7\u3051\u7d99\u3050\u306f\u305a\u306e7\u756a\u67d3\u8272\u4f53\u3092\u3001\u4e21\u65b9\u3068\u3082\u6bcd\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3067\u3057\u307e\u3046\u73fe\u8c61\u3067\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u30017\u756a\u67d3\u8272\u4f53\u306b\u3042\u308b\u6210\u9577\u306b\u95a2\u308f\u308b\u7236\u7531\u6765\u907a\u4f1d\u5b50\u304c\u50cd\u304b\u306a\u304f\u306a\u308a\u3001\u6210\u9577\u969c\u5bb3\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li>14q32\u9818\u57df:<br>\u7a00\u306b14\u756a\u67d3\u8272\u4f53\u306e\u7570\u5e38\uff08\u30c6\u30f3\u30d7\u30eb\u75c7\u5019\u7fa4\uff09\u304cSRS\u3068\u9177\u4f3c\u3057\u305f\u75c7\u72b6\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>30,000\u4eba \u301c 100,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e0c\u5c11\u75be\u60a3:<\/strong> \u6b63\u78ba\u306a\u983b\u5ea6\u306f\u5730\u57df\u306b\u3088\u308a\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u4e16\u754c\u7684\u306b\u5e0c\u5c11\u75be\u60a3\u3068\u3057\u3066\u8a8d\u8b58\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u904e\u5c11\u8a3a\u65ad:<\/strong> \u8efd\u75c7\u4f8b\u3067\u306f\u300c\u5358\u306a\u308b\u5c0f\u67c4\u306a\u4f53\u8cea\u300d\u3068\u898b\u904e\u3054\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u5b9f\u969b\u306e\u983b\u5ea6\u306f\u3082\u3046\u5c11\u3057\u9ad8\u3044\u53ef\u80fd\u6027\u3082\u6307\u6458\u3055\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\u767a\u75c7\u3057\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>SRS\u306e\u81e8\u5e8a\u75c7\u72b6\u306f\u975e\u5e38\u306b\u7279\u5fb4\u7684\u3067\u3042\u308a\u3001\u56fd\u969b\u7684\u306a\u81e8\u5e8a\u8a3a\u65ad\u57fa\u6e96\uff08Netchine-Harbison\u30b9\u30b3\u30a2\u30ea\u30f3\u30b0\u30b7\u30b9\u30c6\u30e0\uff09\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6210\u9577\u306e\u9045\u6ede<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80ce\u5185\u767a\u80b2\u4e0d\u5168 (SGA):<\/strong> \u51fa\u751f\u6642\u306e\u4f53\u91cd\u3084\u8eab\u9577\u304c\u3001\u598a\u5a20\u9031\u6570\u306b\u5bfe\u3057\u3066\u8457\u3057\u304f\u5c0f\u3055\u3044\u3002<\/li>\n\n\n\n<li><strong>\u51fa\u751f\u5f8c\u306e\u6210\u9577\u4e0d\u5168:<\/strong> \u6210\u9577\u66f2\u7dda\u304b\u3089\u5927\u304d\u304f\u4e0b\u65b9\u306b\u5916\u308c\u3001\u30ad\u30e3\u30c3\u30c1\u30a2\u30c3\u30d7\uff08\u8ffd\u3044\u3064\u304d\uff09\u6210\u9577\u304c\u307b\u3068\u3093\u3069\u898b\u3089\u308c\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u982d\u90e8\u30fb\u9854\u8c8c\u306e\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u76f8\u5bfe\u7684\u5c0f\u982d\u75c7:<\/strong> \u4f53\u306e\u5927\u304d\u3055\u306b\u6bd4\u3079\u3066\u982d\u304c\u76f8\u5bfe\u7684\u306b\u5927\u304d\u304f\u898b\u3048\u308b\u3002<\/li>\n\n\n\n<li><strong>\u4e09\u89d2\u5f62\u306e\u9854\u7acb\u3061:<\/strong> \u5e83\u3044\u984d\u3068\u3001\u5c0f\u3055\u304f\u5c16\u3063\u305f\u984e\u304c\u7279\u5fb4\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u3044\u4f4d\u7f6e\u306e\u8033:<\/strong> \u8033\u304c\u3084\u3084\u4e0b\u306e\u65b9\u306b\u4ed8\u7740\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u53e3\u89d2\u306e\u4e0b\u843d:<\/strong> \u300c\u3078\u306e\u5b57\u300d\u306e\u53e3\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u8eab\u4f53\u306e\u975e\u5bfe\u79f0\u6027<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5de6\u53f3\u975e\u5bfe\u79f0\uff08Asymmetry\uff09:<\/strong> \u5de6\u53f3\u306e\u624b\u8db3\u306e\u9577\u3055\u3084\u592a\u3055\u304c\u7570\u306a\u308b\u300c\u4e00\u5074\u80a5\u5927\uff08\u307e\u305f\u306f\u4e00\u5074\u840e\u7e2e\uff09\u300d\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u306fSRS\u3092\u7591\u3046\u91cd\u8981\u306a\u6307\u6a19\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u624b\u8db3\u306e\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b2c5\u6307\u306e\u5f2f\u66f2:<\/strong> \u5c0f\u6307\u304c\u5185\u5074\u306b\u66f2\u304c\u3063\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u5408\u6307\u75c7:<\/strong> \u8db3\u306e\u7b2c2\u8dbe\u3068\u7b2c3\u8dbe\u304c\u304f\u3063\u3064\u3044\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u6442\u98df\u30fb\u4ee3\u8b1d\u306e\u554f\u984c<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8840\u7cd6:<\/strong> \u76ae\u4e0b\u8102\u80aa\u304c\u6975\u7aef\u306b\u5c11\u306a\u304f\u3001\u7a7a\u8179\u6642\u306b\u8840\u7cd6\u5024\u304c\u4e0b\u304c\u308a\u3084\u3059\u3044\u3002\u7279\u306b\u4e73\u5e7c\u5150\u671f\u306f\u591c\u9593\u306e\u4f4e\u8840\u7cd6\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u98df\u6b32\u4e0d\u632f:<\/strong> \u98df\u3079\u308b\u3053\u3068\u306b\u8208\u5473\u3092\u793a\u3055\u305a\u3001\u5c11\u98df\u3067\u3042\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u80c3\u98df\u9053\u9006\u6d41\u75c7 (GERD):<\/strong> \u5614\u5410\u3084\u98df\u6b32\u4e0d\u632f\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>6. \u767a\u9054\u3068\u77e5\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u904b\u52d5\u767a\u9054\u306e\u9045\u308c:<\/strong> \u7b4b\u529b\u304c\u5f31\u3044\u305f\u3081\u3001\u6b69\u884c\u958b\u59cb\u306a\u3069\u304c\u9045\u308c\u308b\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u77e5\u80fd:<\/strong> \u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u3067\u77e5\u80fd\u306f\u6b63\u5e38\u7bc4\u56f2\u5185\u3067\u3059\u304c\u3001\u4e00\u90e8\u3067\u5b66\u7fd2\u969c\u5bb3\u3084\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\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>\u907a\u4f1d\u5b50\u5237\u308a\u8fbc\u307f\uff08\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\uff09\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<p>SRS\u306f\u3001DNA\u306e\u5869\u57fa\u914d\u5217\u304c\u66f8\u304d\u63db\u308f\u308b\u300c\u7a81\u7136\u5909\u7570\u300d\u3067\u306f\u306a\u304f\u3001\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\uff08\u30e1\u30c1\u30eb\u5316\uff09\u306e\u72b6\u614b\u304c\u5909\u308f\u3063\u3066\u3057\u307e\u3046\u3053\u3068\u3067\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>11p15.5\u9818\u57df\u306e\u4f4e\u30e1\u30c1\u30eb\u5316:<br>\u7236\u89aa\u7531\u6765\u306e\u67d3\u8272\u4f53\u3067\u672c\u6765\u30aa\u30f3\u306b\u306a\u3063\u3066\u3044\u308b\u306f\u305a\u306e\u6210\u9577\u4fc3\u9032\u30b9\u30a4\u30c3\u30c1\u304c\u30aa\u30d5\u306b\u306a\u308a\u3001\u6210\u9577\u304c\u6291\u5236\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>7\u756a\u67d3\u8272\u4f53\u6bcd\u6027\u5358\u89aa\u6027\u4e8c\u500d\u4f53 (upd(7)mat):<br>\u6bcd\u89aa\u306e\u907a\u4f1d\u5b50\u306e\u307f\u304c\u5b58\u5728\u3059\u308b\u3053\u3068\u3067\u3001\u7236\u89aa\u304b\u3089\u3057\u304b\u767a\u73fe\u3057\u306a\u3044\u6210\u9577\u907a\u4f1d\u5b50\u304c\u6b20\u4e4f\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5fae\u5c0f\u6b20\u5931\u30fb\u91cd\u8907:<br>\u7a00\u306b11p15.5\u9818\u57df\u306e\u5fae\u5c0f\u306a\u6b20\u5931\u3084\u91cd\u8907\u306a\u3069\u306e\u69cb\u9020\u7570\u5e38\u304c\u539f\u56e0\u3068\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\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\u75c7\u72b6\u306b\u57fa\u3065\u304f\u30b9\u30b3\u30a2\u30ea\u30f3\u30b0\u3068\u3001\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u8a3a\u65ad\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u81e8\u5e8a\u8a3a\u65ad\u57fa\u6e96 (Netchine-Harbison\u30b9\u30b3\u30a2):<br>\u4ee5\u4e0b\u306e6\u9805\u76ee\u306e\u3046\u3061\u30014\u9805\u76ee\u4ee5\u4e0a\u3092\u6e80\u305f\u3059\u5834\u5408\u306b\u7591\u308f\u308c\u307e\u3059\u3002\n<ul class=\"wp-block-list\">\n<li>\u80ce\u5185\u767a\u80b2\u4e0d\u5168 (SGA)<\/li>\n\n\n\n<li>\u51fa\u751f\u5f8c\u306e\u6210\u9577\u969c\u5bb3<\/li>\n\n\n\n<li>\u76f8\u5bfe\u7684\u5c0f\u982d\u75c7<\/li>\n\n\n\n<li>\u524d\u982d\u90e8\u306e\u7a81\u51fa\uff08\u984d\u304c\u5e83\u3044\uff09<\/li>\n\n\n\n<li>\u8eab\u4f53\u306e\u975e\u5bfe\u79f0\u6027<\/li>\n\n\n\n<li>\u6442\u98df\u969c\u5bb3 \/ \u4f4eBMI<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>MS-MLPA\u6cd5:<\/strong> 11p15.5\u9818\u57df\u306e\u30e1\u30c1\u30eb\u5316\u7570\u5e38\u3092\u691c\u51fa\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30de\u30a4\u30af\u30ed\u30b5\u30c6\u30e9\u30a4\u30c8\u89e3\u6790:<\/strong> upd(7)mat\uff087\u756a\u67d3\u8272\u4f53\u6bcd\u6027\u5358\u89aa\u6027\u4e8c\u500d\u4f53\uff09\u3092\u691c\u51fa\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb:<\/strong> <strong>\u5fae\u5c0f<\/strong>\u306a\u6b20\u5931\u3084\u91cd\u8907\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u300c\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u6b63\u5e38\u5316\u3059\u308b\u300d\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u591a\u8077\u7a2e\u30c1\u30fc\u30e0\uff08\u5c0f\u5150\u79d1\u3001\u5185\u5206\u6ccc\u79d1\u3001\u6574\u5f62\u5916\u79d1\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u79d1\u3001\u6804\u990a\u79d1\uff09\u306b\u3088\u308b\u5305\u62ec\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6210\u9577\u306e\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5:<\/strong> 2\u6b73\u3092\u904e\u304e\u3066\u3082\u30ad\u30e3\u30c3\u30c1\u30a2\u30c3\u30d7\u6210\u9577\u304c\u898b\u3089\u308c\u306a\u3044\u5834\u5408\u3001\u65e5\u672c\u3067\u3082\u4fdd\u967a\u9069\u7528\u3068\u306a\u308b\u6cbb\u7642\u3067\u3059\u3002\u8eab\u9577\u3092\u4f38\u3070\u3059\u3060\u3051\u3067\u306a\u304f\u3001\u7b4b\u8089\u91cf\u3092\u5897\u3084\u3057\u3001\u4f4e\u8840\u7cd6\u306e\u4e88\u9632\u306b\u3082\u5f79\u7acb\u3061\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6804\u990a\u30fb\u4ee3\u8b1d\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8840\u7cd6\u306e\u4e88\u9632:<\/strong> \u5c11\u91cf\u983b\u56de\u98df\u3084\u591c\u9593\u306e\u30b3\u30fc\u30f3\u30b9\u30bf\u30fc\u30c1\u6442\u53d6\u306a\u3069\u3092\u884c\u3044\u3001\u4f4e\u8840\u7cd6\u3092\u9632\u304e\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9ad8\u30ab\u30ed\u30ea\u30fc\u6442\u53d6:<\/strong> \u52b9\u7387\u7684\u306b\u30a8\u30cd\u30eb\u30ae\u30fc\u3092\u6442\u53d6\u3067\u304d\u308b\u3088\u3046\u3001\u6804\u990a\u58eb\u306b\u3088\u308b\u6307\u5c0e\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u6574\u5f62\u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80a2\u9577\u5dee\u306e\u88dc\u6b63:<\/strong> \u5de6\u53f3\u306e\u624b\u8db3\u306e\u9577\u3055\u306b\u5927\u304d\u306a\u5dee\u304c\u3042\u308b\u5834\u5408\u3001\u9774\u306e\u88dc\u9ad8\uff08\u30a4\u30f3\u30bd\u30fc\u30eb\uff09\u3084\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u9aa8\u5ef6\u9577\u8853\u306a\u3069\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u767a\u9054\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3:<\/strong> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u5bfe\u3059\u308b\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3084\u3001\u98df\u6b32\u4e0d\u632f\u30fb\u6442\u98df\u969c\u5bb3\u306b\u5bfe\u3059\u308b\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u5fc3\u7406\u30fb\u6559\u80b2\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5916\u898b\u7684\u306a\u7279\u5fb4\u3084\u5c0f\u67c4\u306a\u4f53\u683c\u3001\u5b66\u7fd2\u9762\u3067\u306e\u4e0d\u5b89\u306b\u5bfe\u3057\u3001\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3084\u7279\u5225\u652f\u63f4\u6559\u80b2\u306e\u6d3b\u7528\u3092\u691c\u8a0e\u3057\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>\u8eab\u4f53\u7684\u4e88\u5f8c:<\/strong> \u6700\u7d42\u8eab\u9577\u306f\u6a19\u6e96\u3088\u308a\u4f4e\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5\u306b\u3088\u308a\u6539\u5584\u304c\u898b\u8fbc\u307e\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6210\u4eba\u671f\u306e\u30ea\u30b9\u30af:<\/strong> \u5c0f\u3055\u304f\u751f\u307e\u308c\u305f\u5b50\u4f9b\uff08SGA\uff09\u304c\u6025\u6fc0\u306b\u4f53\u91cd\u3092\u5897\u3084\u3059\u3068\u3001\u5c06\u6765\u7684\u306b\u30a4\u30f3\u30b9\u30ea\u30f3\u62b5\u6297\u6027\u30012\u578b\u7cd6\u5c3f\u75c5\u3001\u9ad8\u8840\u5727\u306a\u3069\u306e\u751f\u6d3b\u7fd2\u6163\u75c5\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u904e\u5ea6\u306a\u300c\u592a\u3089\u305b\u3059\u304e\u300d\u306b\u306f\u6ce8\u610f\u3057\u3001\u9577\u671f\u7684\u306a\u5065\u5eb7\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5bff\u547d:<\/strong> \u5408\u4f75\u75c7\u304c\u9069\u5207\u306b\u7ba1\u7406\u3055\u308c\u3066\u3044\u308c\u3070\u3001\u5bff\u547d\u306f\u4e00\u822c\u306e\u65b9\u3068\u5909\u308f\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>Silver-Russell syndrome\uff08\u30b7\u30eb\u30d0\u30fc\u30fb\u30e9\u30c3\u30bb\u30eb\u75c7\u5019\u7fa4\uff09\u306f\u3001\u304a\u8179\u306e\u4e2d\u306b\u3044\u308b\u6642\u304b\u3089\u6210\u9577\u304c\u3086\u3063\u304f\u308a\u3067\u3001\u751f\u307e\u308c\u305f\u5f8c\u3082\u306a\u304b\u306a\u304b\u4f53\u304c\u5927\u304d\u304f\u306a\u3089\u306a\u3044\u3001\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u4f53\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u9854\u304c\u9006\u4e09\u89d2\u5f62\u306b\u898b\u3048\u308b\u300d\u300c\u5de6\u53f3\u306e\u624b\u8db3\u306e\u9577\u3055\u304c\u5c11\u3057\u9055\u3046\u300d\u300c\u98df\u304c\u7d30\u304f\u3066\u8840\u7cd6\u5024\u304c\u4e0b\u304c\u308a\u3084\u3059\u3044\u300d\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u3089\u306f11\u756a\u30847\u756a\u3068\u3044\u3063\u305f\u67d3\u8272\u4f53\u306e\u300c\u30b9\u30a4\u30c3\u30c1\u300d\u306e\u5165\u308a\u65b9\u304c\u3001\u901a\u5e38\u3068\u306f\u5c11\u3057\u7570\u306a\u3063\u3066\u3044\u308b\u305f\u3081\u306b\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u3046\u3061\u306e\u5b50\u306f\u306a\u305c\u98df\u3079\u306a\u3044\u306e\u304b\u3001\u306a\u305c\u5927\u304d\u304f\u306a\u3089\u306a\u3044\u306e\u304b\u300d\u3068\u60a9\u307e\u308c\u308b\u89aa\u5fa1\u69d8\u3082\u591a\u3044\u3067\u3059\u304c\u3001\u8a3a\u65ad\u304c\u3064\u304f\u3053\u3068\u3067\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5\u306a\u3069\u306e\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u3089\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u67c4\u3067\u53ef\u611b\u3089\u3057\u3044\u5916\u898b\u3092\u6301\u3064SRS\u306e\u304a\u5b50\u69d8\u305f\u3061\u306f\u3001\u9069\u5207\u306a\u533b\u7642\u30c1\u30fc\u30e0\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u3042\u308c\u3070\u3001\u305d\u308c\u305e\u308c\u306e\u30da\u30fc\u30b9\u3067\u5065\u3084\u304b\u306b\u6210\u9577\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u4f4e\u8840\u7cd6\u306e\u7ba1\u7406\u3084\u6210\u9577\u306e\u652f\u63f4\u3092\u901a\u3058\u3066\u3001\u304a\u5b50\u69d8\u304c\u6301\u3064\u53ef\u80fd\u6027\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3057\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>Silver, H. K., et al.<\/strong> (1953). <em>Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins.<\/em> Pediatrics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u30b7\u30eb\u30d0\u30fc\u535a\u58eb\u306b\u3088\u308b\u6700\u521d\u306e\u5831\u544a\u3002\u8eab\u4f53\u306e\u975e\u5bfe\u79f0\u6027\u3068\u4f4e\u8eab\u9577\u306e\u95a2\u9023\u3092\u5b9a\u7fa9\u3057\u307e\u3057\u305f\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Russell, A.<\/strong> (1954). <em>A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u30e9\u30c3\u30bb\u30eb\u535a\u58eb\u306b\u3088\u308b\u80ce\u5185\u767a\u80b2\u4e0d\u5168\u3068\u7279\u5fb4\u7684\u9854\u8c8c\u306b\u95a2\u3059\u308b\u5831\u544a\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Netchine, I., et al.<\/strong> (2007). <em>11p15 imprinting center region 1 loss of methylation is a common and specific cause of Silver-Russell syndrome.<\/em> Journal of Clinical Endocrinology &amp; Metabolism.\n<ul class=\"wp-block-list\">\n<li>\uff0811p15.5\u9818\u57df\u306e\u30e1\u30c1\u30eb\u5316\u7570\u5e38\u304cSRS\u306e\u4e3b\u8981\u306a\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u7279\u5b9a\u3057\u305f\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Wakeling, E. L., et al.<\/strong> (2017). <em>Diagnosis and management of Silver-Russell syndrome: first international consensus statement.<\/em> Nature Reviews Endocrinology.\n<ul class=\"wp-block-list\">\n<li>\uff08SRS\u306e\u8a3a\u65ad\u3068\u7ba1\u7406\u306b\u95a2\u3059\u308b\u56fd\u969b\u7684\u306a\u5408\u610f\u58f0\u660e\u3002\u73fe\u5728\u306e\u6a19\u6e96\u7684\u306a\u6307\u91dd\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Silver-Russell Syndrome<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u5206\u5b50\u907a\u4f1d\u5b66\u3001\u8a3a\u65ad\u3001\u81e8\u5e8a\u7ba1\u7406\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>Silver-Russell Syndrome: A guide for parents and professionals<\/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\u30d6\u30c3\u30af\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u65e5\u672c\u5c0f\u5150\u5185\u5206\u6ccc\u5b66\u4f1a<\/strong>: <em>SGA\u6027\u4f4e\u8eab\u9577\u75c7\u306e\u8a3a\u7642\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u56fd\u5185\u306b\u304a\u3051\u308b\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5\u306e\u57fa\u6e96\u3084\u7ba1\u7406\u306b\u95a2\u3059\u308b\u6307\u91dd\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-17448","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\/17448","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/genetic-screening"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17448\/revisions"}],"predecessor-version":[{"id":17450,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17448\/revisions\/17450"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17448"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}