{"id":17267,"date":"2026-01-22T01:15:13","date_gmt":"2026-01-22T01:15:13","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17267"},"modified":"2026-01-22T01:15:13","modified_gmt":"2026-01-22T01:15:13","slug":"cri-du-chat-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/cri-du-chat-syndrome\/","title":{"rendered":"Cri du chat 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>\u732b\u9cf4\u304d\u75c7\u5019\u7fa4\uff08\u306d\u3053\u306a\u304d\u3057\u3087\u3046\u3053\u3046\u3050\u3093 \/ Cat cry syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u4e73\u5150\u671f\u306e\u7279\u5fb4\u7684\u306a\u6ce3\u304d\u58f0\u306b\u7531\u6765\u3059\u308b\u6700\u3082\u4e00\u822c\u7684\u306a\u5225\u540d\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>5p\u6b20\u5931\u75c7\u5019\u7fa4\uff085p deletion syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u533b\u5b66\u7684\u306b\u6700\u3082\u6b63\u78ba\u306a\u3001\u67d3\u8272\u4f53\u306e\u72b6\u614b\u3092\u8868\u3059\u540d\u79f0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>5p-\u75c7\u5019\u7fa4\uff085p minus syndrome\uff09<\/li>\n\n\n\n<li>\u30eb\u30b8\u30e5\u30fc\u30f3\u75c7\u5019\u7fa4\uff08Lejeune&#8217;s syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u767a\u898b\u8005\u3067\u3042\u308b\u30d5\u30e9\u30f3\u30b9\u306e\u907a\u4f1d\u5b66\u8005\u30b8\u30a7\u30ed\u30fc\u30e0\u30fb\u30eb\u30b8\u30e5\u30fc\u30f3\uff08J\u00e9r\u00f4me Lejeune\uff09\u535a\u58eb\u306b\u3061\u306a\u3093\u3060\u540d\u79f0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>5\u756a\u67d3\u8272\u4f53\u77ed\u8155\u6b20\u5931\u75c7\u5019\u7fa4<\/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>5\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0915.2-15.3\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e5\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306e\u672b\u7aef\u90e8\u5206\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\uff08\u30b3\u30d4\u30fc\u6570\u304c1\u3064\u306b\u306a\u308b\uff1a\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\u3011<\/p>\n\n\n\n<p>5\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff085p\uff09\u304c\u3069\u306e\u304f\u3089\u3044\u6b20\u3051\u3066\u3044\u308b\u304b\uff08\u6b20\u5931\u30b5\u30a4\u30ba\uff09\u306f\u3001\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u672c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u305f\u3081\u306b\u5171\u901a\u3057\u3066\u6b20\u5931\u3057\u3066\u3044\u308b\u91cd\u8981\u306a\u9818\u57df\uff08\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\uff09\u304c\u7279\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>5p15.3\u9818\u57df\uff08\u732b\u9cf4\u304d\u75c7\u72b6\u306e\u539f\u56e0\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5589\u982d\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u304a\u308a\u3001\u3053\u306e\u90e8\u5206\u306e\u6b20\u5931\u304c\u7279\u5fb4\u7684\u306a\u300c\u732b\u306e\u3088\u3046\u306a\u6ce3\u304d\u58f0\u300d\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>5p15.2\u9818\u57df\uff08\u8eab\u4f53\u30fb\u77e5\u7684\u767a\u9054\u306e\u539f\u56e0\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u306e\u9818\u57df\u306b\u306f\u3001<strong>CTNND2 (Delta-catenin)<\/strong> \u3084 <strong>SEMA5A (Semaphorin 5A)<\/strong>\u3001<strong>TERT<\/strong> \u306a\u3069\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b<em>CTNND2<\/em>\u907a\u4f1d\u5b50\u306f\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306e\u79fb\u52d5\u3084\u7d50\u5408\u306b\u95a2\u308f\u3063\u3066\u304a\u308a\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u300c\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u300d\u306e\u4e3b\u8981\u306a\u8981\u56e0\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u3044\u307b\u3069\u3001\u75c7\u72b6\u304c\u91cd\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\uff08\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u7a00\u3060\u304c\u3001\u67d3\u8272\u4f53\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u4e2d\u3067\u306f\u6bd4\u8f03\u7684\u983b\u5ea6\u304c\u9ad8\u3044<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u983b\u5ea6:<\/strong> \u51fa\u751f<strong>15,000\u4eba \u301c 50,000\u4eba\u306b1\u4eba<\/strong>\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee:<\/strong> \u5973\u6027\u306e\u65b9\u304c\u7537\u6027\u3088\u308a\u3082\u3084\u3084\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\uff08\u5973\u5150\uff1a\u7537\u5150 \uff1d \u7d04 4\uff1a3\uff09\u3002<\/li>\n\n\n\n<li>\u5168\u4eba\u7a2e\u306b\u898b\u3089\u308c\u3001\u7279\u5b9a\u306e\u5730\u57df\u3084\u6c11\u65cf\u306b\u3088\u308b\u504f\u308a\u306f\u3042\u308a\u307e\u305b\u3093\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>Cri du chat syndrome\u306e\u75c7\u72b6\u306f\u3001\u5e74\u9f62\u306b\u3088\u3063\u3066\u5909\u5316\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e73\u5150\u671f\u306b\u306f\u300c\u6ce3\u304d\u58f0\u300d\u3084\u300c\u9854\u8c8c\u300d\u304c\u7279\u5fb4\u7684\u3067\u3059\u304c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u300c\u904b\u52d5\u30fb\u77e5\u7684\u767a\u9054\u300d\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u4e2d\u5fc3\u7684\u306a\u8ab2\u984c\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u65b0\u751f\u5150\u671f\u30fb\u4e73\u5150\u671f\u306e\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u732b\u306e\u3088\u3046\u306a\u6ce3\u304d\u58f0\uff08Cat-like cry\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u5927\u306e\u7279\u5fb4<\/strong>\u3067\u3042\u308a\u3001\u8a3a\u65ad\u306e\u304d\u3063\u304b\u3051\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5b50\u732b\u304c\u9cf4\u304f\u3088\u3046\u306a\u3001\u7532\u9ad8\u304f\uff08\u9ad8\u8abf\uff09\u3001\u5f31\u3005\u3057\u3044\u3001\u5358\u8abf\u306a\u6ce3\u304d\u58f0\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u539f\u56e0:<\/strong> \u5589\u982d\uff08\u306e\u3069\u307c\u3068\u3051\uff09\u306e\u5f62\u6210\u4e0d\u5168\uff08\u8edf\u5f31\u5316\u3001\u72ed\u5c0f\u5316\uff09\u3068\u3001\u795e\u7d4c\u5b66\u7684\u306a\u8981\u56e0\u306b\u3088\u308b\u58f0\u5e2f\u306e\u52d5\u304d\u306e\u554f\u984c\u304c\u539f\u56e0\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7d4c\u904e:<\/strong> \u751f\u5f8c\u6570\u9031\u9593\u301c\u6570\u30f6\u6708\u3067\u6700\u3082\u9855\u8457\u3067\u3059\u304c\u3001\u5589\u982d\u306e\u6210\u9577\u3068\u3068\u3082\u306b\u5f90\u3005\u306b\u76ee\u7acb\u305f\u306a\u304f\u306a\u308a\u3001\u591a\u304f\u306e\u5834\u5408\u306f2\u6b73\u9803\u307e\u3067\u306b\u6d88\u5931\u3057\u307e\u3059\uff08\u305f\u3060\u3057\u3001\u58f0\u306e\u9ad8\u3055\u3084\u8a71\u3057\u65b9\u306e\u7279\u5fb4\u3068\u3057\u3066\u6b8b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4f4e\u51fa\u751f\u4f53\u91cd\u30fb\u6210\u9577\u969c\u5bb3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u80ce\u5185\u767a\u80b2\u4e0d\u5168\u306b\u3088\u308a\u3001\u5c0f\u3055\u304f\u751f\u307e\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\uff08SGA\uff09\u3002\u51fa\u751f\u5f8c\u3082\u4f53\u91cd\u304c\u5897\u3048\u306b\u304f\u304f\u3001\u54fa\u4e73\u529b\u304c\u5f31\u3044\uff08\u5438\u3046\u529b\u304c\u5f31\u3044\uff09\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5168\u8eab\u306e\u7b4b\u8089\u306e\u5f35\u308a\u304c\u5f31\u304f\u3001\u62b1\u3063\u3053\u3059\u308b\u3068\u3075\u306b\u3083\u3075\u306b\u3083\u3057\u305f\u611f\u3058\uff08\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\uff09\u304c\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u982d\u56f2\u304c\u5c0f\u3055\u304f\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u305d\u306e\u50be\u5411\u304c\u660e\u3089\u304b\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7279\u5fb4\u7684\u306a\u9854\u8c8c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6e80\u6708\u69d8\u9854\u8c8c\uff08\u30e0\u30fc\u30f3\u30d5\u30a7\u30a4\u30b9\uff1a\u9854\u304c\u4e38\u3044\uff09\u3002<\/li>\n\n\n\n<li>\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li>\u5185\u773c\u89d2\u8d05\u76ae\uff08\u76ee\u982d\u306e\u3072\u3060\uff09\u3002<\/li>\n\n\n\n<li>\u9f3b\u6839\u90e8\u304c\u5e83\u304f\u5e73\u5766\u3002<\/li>\n\n\n\n<li>\u5c0f\u984e\u75c7\uff08\u3042\u3054\u304c\u5c0f\u3055\u3044\uff09\u3002<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u4ecb\u306e\u5909\u5f62\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5e7c\u5150\u671f\u301c\u5b66\u7ae5\u671f\u306e\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9854\u8c8c\u306e\u5909\u5316:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5150\u671f\u306e\u4e38\u9854\u304b\u3089\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u9762\u9577\uff08\u7d30\u9577\u3044\u9854\uff09\u3078\u3068\u5909\u5316\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b6f\u4e26\u3073\u306e\u554f\u984c\uff08\u4e0d\u6b63\u54ac\u5408\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u591a\u304f\u306e\u5b50\u4f9b\u306f2\u301c6\u6b73\u9803\u306b\u72ec\u6b69\u3092\u7372\u5f97\u3057\u307e\u3059\u304c\u3001\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u306a\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7b4b\u7dca\u5f35\u306f\u3001\u4e73\u5150\u671f\u306e\u4f4e\u4e0b\u304b\u3089\u3001\u5f90\u3005\u306b\u4ea2\u9032\uff08\u4f53\u304c\u786c\u304f\u306a\u308b\uff09\u3078\u5909\u5316\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u91cd\u5ea6\u301c\u6700\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u6b20\u5931\u7bc4\u56f2\u306b\u3088\u3063\u3066\u306f\u4e2d\u7b49\u5ea6\u306e\u5834\u5408\u3082\u3042\u308a\u3001\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\uff08Speech delay\uff09\u304c\u9855\u8457\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u53d7\u5bb9\u8a00\u8a9e\uff08\u7406\u89e3\uff09 > \u8868\u51fa\u8a00\u8a9e\uff08\u767a\u8a71\uff09\uff1a<\/strong> \u8a71\u3059\u3053\u3068\u3088\u308a\u3082\u3001\u3053\u3061\u3089\u306e\u8a00\u3063\u3066\u3044\u308b\u3053\u3068\u3092\u7406\u89e3\u3059\u308b\u80fd\u529b\u306e\u65b9\u304c\u9ad8\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6570\u8a9e\u306e\u5358\u8a9e\u3084\u77ed\u3044\u6587\u7ae0\u3092\u8a71\u305b\u308b\u3088\u3046\u306b\u306a\u308b\u5b50\u3082\u3044\u308c\u3070\u3001\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u3084\u30b5\u30a4\u30f3\u3092\u4e3b\u306a\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u3068\u3059\u308b\u5b50\u3082\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u884c\u52d5\u30fb\u6027\u683c\u9762\u306e\u7279\u6027\uff08Behavioral phenotype\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6027\u683c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e00\u822c\u7684\u306b\u3001\u4eba\u61d0\u3063\u3053\u304f\u3001\u793e\u4ea4\u7684\u3067\u3001\u7b11\u9854\u304c\u591a\u3044\uff08Happy demeanor\uff09\u304a\u5b50\u3055\u3093\u304c\u591a\u3044\u3068\u8a00\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u97f3\u697d\u3092\u597d\u3080\u50be\u5411\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u306e\u554f\u984c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u52d5\uff08ADHD\u69d8\uff09\u3001\u885d\u52d5\u6027\u3002<\/li>\n\n\n\n<li>\u81ea\u50b7\u884c\u70ba\uff08\u982d\u3092\u53e9\u304f\u3001\u624b\u3092\u565b\u3080\u306a\u3069\uff09\u3002<\/li>\n\n\n\n<li>\u5e38\u540c\u884c\u52d5\uff08\u540c\u3058\u52d5\u304d\u3092\u7e70\u308a\u8fd4\u3059\uff09\u3002<\/li>\n\n\n\n<li>\u3053\u3060\u308f\u308a\u3001\u611f\u899a\u904e\u654f\uff08\u7279\u5b9a\u306e\u97f3\u3092\u5acc\u304c\u308b\u306a\u3069\uff09\u3002<\/li>\n\n\n\n<li>\u7761\u7720\u969c\u5bb3\uff08\u5bdd\u4ed8\u304d\u304c\u60aa\u3044\u3001\u591c\u4e2d\u306b\u8d77\u304d\u308b\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u8eab\u4f53\u7684\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u3001\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09\u3001\u52d5\u8108\u7ba1\u958b\u5b58\u75c7\uff08PDA\uff09\u306a\u3069\uff08\u7d0430%\uff09\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u9aa8\u683c\u7cfb:<\/strong> \u5074\u5f2f\u75c7\uff08\u80cc\u9aa8\u304c\u66f2\u304c\u308b\uff09\u3001\u504f\u5e73\u8db3\u3001\u9f20\u5f84\u30d8\u30eb\u30cb\u30a2\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong> \u814e\u5947\u5f62\u3001\u304f\u308a\u8fd4\u3059\u4e2d\u8033\u708e\u3084\u547c\u5438\u5668\u611f\u67d3\u75c7\u3001\u4fbf\u79d8\u3001\u56a5\u4e0b\u969c\u5bb3\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>5\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff085p\uff09\u306e\u90e8\u5206\u6b20\u5931\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u306a\u305c\u6b20\u5931\u304c\u8d77\u3053\u308b\u306e\u304b\u306b\u3088\u3063\u3066\u3001\u4ee5\u4e0b\u306e\u30bf\u30a4\u30d7\u306b\u5206\u304b\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u60c5\u5831\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\uff1a\u7d0485\u301c90%<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u3082\u591a\u3044\u30bf\u30a4\u30d7<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\uff08\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6642\u3001\u307e\u305f\u306f\u53d7\u7cbe\u76f4\u5f8c\uff09\u3067\u5076\u7136\u30015\u756a\u67d3\u8272\u4f53\u306e\u7aef\u304c\u3061\u304e\u308c\u3066\u5931\u308f\u308c\u305f\u3082\u306e\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306e\u5e74\u9f62\u3084\u74b0\u5883\u8981\u56e0\u3068\u306f\u7121\u95a2\u4fc2\u306b\u8d77\u3053\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u518d\u767a\u30ea\u30b9\u30af:<\/strong> \u975e\u5e38\u306b\u4f4e\u3044\u3067\u3059\uff08\u4e00\u822c\u96c6\u56e3\u3068\u307b\u307c\u5909\u308f\u308a\u307e\u305b\u3093\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u4e0d\u5747\u8861\u578b\u8ee2\u5ea7\uff08Unbalanced Translocation\uff09\uff1a\u7d0410\u301c15%<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5bb6\u65cf\u6027\uff08\u907a\u4f1d\u6027\uff09\u306e\u53ef\u80fd\u6027\u304c\u3042\u308b\u30bf\u30a4\u30d7<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7247\u65b9\u306e\u89aa\u304c**\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d**\uff08\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u304c\u3001\u91cf\u306f\u6b63\u5e38\u306a\u306e\u3067\u5065\u5eb7\uff09\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304b\u3089\u67d3\u8272\u4f53\u304c\u53d7\u3051\u7d99\u304c\u308c\u308b\u969b\u306b\u3001\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3066\u300c5\u756a\u67d3\u8272\u4f53\u306e\u4e0d\u8db3\uff08\u6b20\u5931\uff09\u300d\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u518d\u767a\u30ea\u30b9\u30af:<\/strong> \u89aa\u304c\u8ee2\u5ea7\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u6b21\u5b50\u306b\u3082\u75c7\u72b6\u304c\u51fa\u308b\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u306a\u308b\u305f\u3081\u3001\u8a73\u7d30\u306a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u30e2\u30b6\u30a4\u30af\u578b\uff08Mosaicism\uff09\uff1a\u7a00<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b63\u5e38\u306a\u7d30\u80de\u3068\u30015p\u6b20\u5931\u3092\u6301\u3064\u7d30\u80de\u304c\u4f53\u306e\u4e2d\u306b\u6df7\u5728\u3057\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u75c7\u72b6\u306f\u8efd\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\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>\u7279\u5fb4\u7684\u306a\u300c\u6ce3\u304d\u58f0\u300d\u3068\u81e8\u5e8a\u6240\u898b\u304b\u3089\u7591\u308f\u308c\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u5206\u67d3\u6cd5\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4ee5\u524d\u304b\u3089\u884c\u308f\u308c\u3066\u3044\u308b\u6a19\u6e96\u7684\u306a\u691c\u67fb\u3067\u3059\u3002\u9855\u5fae\u93e1\u3067\u67d3\u8272\u4f53\u3092\u898b\u3066\u30015\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\u304c\u77ed\u304f\u306a\u3063\u3066\u3044\u308b\u3053\u3068\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001\u6b20\u5931\u304c\u975e\u5e38\u306b\u5c0f\u3055\u3044\u5834\u5408\uff08\u5fae\u5c0f\u6b20\u5931\uff09\u3001\u3053\u306e\u691c\u67fb\u3067\u306f\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>FISH\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>5p15.2\uff08\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\uff09\u306b\u5bfe\u3059\u308b\u7279\u5b9a\u306e\u30d7\u30ed\u30fc\u30d6\uff08\u86cd\u5149\u6a19\u8b58\uff09\u3092\u7528\u3044\u3066\u3001\u6b20\u5931\u306e\u6709\u7121\u3092\u30d4\u30f3\u30dd\u30a4\u30f3\u30c8\u3067\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>G\u30d0\u30f3\u30c9\u3067\u5206\u304b\u3089\u306a\u3044\u5fae\u5c0f\u306a\u6b20\u5931\u3082\u691c\u51fa\u53ef\u80fd\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u73fe\u5728\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b**\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff08\u7b2c\u4e00\u9078\u629e\uff09**\u3068\u306a\u308a\u3064\u3064\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30b2\u30ce\u30e0\u5168\u4f53\u3092\u30b9\u30ad\u30e3\u30f3\u3057\u3001\u6b20\u5931\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\uff08\u3069\u3053\u304b\u3089\u3069\u3053\u307e\u3067\u6b20\u3051\u3066\u3044\u308b\u304b\uff09\u3084\u3001\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u3092\u8a73\u7d30\u306b\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306b\u3088\u308a\u3001\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u4e88\u6e2c\uff08\u4e88\u5f8c\u4e88\u6e2c\uff09\u304c\u3042\u308b\u7a0b\u5ea6\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u60a3\u5150\u306e\u8a3a\u65ad\u78ba\u5b9a\u5f8c\u3001<strong>\u8ee2\u5ea7\u306e\u6709\u7121<\/strong>\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u4e21\u89aa\u306e\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6b20\u5931\u3057\u305f\u67d3\u8272\u4f53\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u5408\u4f75\u75c7\u306b\u5bfe\u3059\u308b\u533b\u7642\u7684\u30b1\u30a2\u3068\u3001\u767a\u9054\u3092\u6700\u5927\u9650\u306b\u4fc3\u3059**\u7642\u80b2\uff08\u65e9\u671f\u4ecb\u5165\uff09**\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u65e9\u671f\u304b\u3089\u306e\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u306b\u3088\u308a\u3001\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u306f\u5927\u304d\u304f\u5411\u4e0a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u65e9\u671f\u7642\u80b2\u30fb\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff08\u91cd\u8981\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u5bfe\u3057\u3001\u4f53\u5e79\u3092\u935b\u3048\u3001\u304a\u5ea7\u308a\u3084\u6b69\u884c\u306a\u3069\u306e\u7c97\u5927\u904b\u52d5\u306e\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5074\u5f2f\u75c7\u306e\u4e88\u9632\u3084\u7ba1\u7406\u3082\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\uff08\u5fae\u5c0f\u904b\u52d5\uff09\u3078\u306e\u8a13\u7df4\u3084\u3001\u611f\u899a\u7d71\u5408\u7642\u6cd5\uff08\u611f\u899a\u904e\u654f\u3078\u306e\u5bfe\u5fdc\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u98df\u5177\u306e\u4f7f\u3044\u65b9\u3084\u7740\u66ff\u3048\u306a\u3069\u3001\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\uff08ADL\uff09\u306e\u81ea\u7acb\u3092\u652f\u63f4\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4:<\/strong> \u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u30b5\u30a4\u30f3\u8a00\u8a9e\u3001\u7d75\u30ab\u30fc\u30c9\uff08PECS\uff09\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u306a\u3069\u306eAAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09\u3092\u65e9\u671f\u304b\u3089\u5c0e\u5165\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6442\u98df\u6307\u5c0e:<\/strong> \u54fa\u4e73\u969c\u5bb3\u3084\u56a5\u4e0b\u969c\u5bb3\u306b\u5bfe\u3057\u3001\u5b89\u5168\u306a\u98df\u3079\u65b9\u3084\u98df\u4e8b\u5f62\u614b\u306e\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u533b\u7642\u7684\u30b1\u30a2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u6b20\u640d\u5b54\u304c\u5927\u304d\u3044\u5834\u5408\u306f\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5916\u79d1\u7684\u6cbb\u7642:<\/strong> \u9f20\u5f84\u30d8\u30eb\u30cb\u30a2\u3084\u505c\u7559\u7cbe\u5de3\u3001\u53e3\u84cb\u88c2\u306a\u3069\u304c\u3042\u308c\u3070\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1:<\/strong> \u6b6f\u4e26\u3073\u3084\u866b\u6b6f\u306e\u7ba1\u7406\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8033\u9f3b\u79d1:<\/strong> \u4e2d\u8033\u708e\u3084\u96e3\u8074\u306e\u5b9a\u671f\u30c1\u30a7\u30c3\u30af\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u6559\u80b2\u30fb\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6559\u80b2\u74b0\u5883:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7279\u5225\u652f\u63f4\u5b66\u6821\u3084\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u3001\u304a\u5b50\u3055\u3093\u306e\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002\u500b\u5225\u306e\u6559\u80b2\u652f\u63f4\u8a08\u753b\uff08IEP\uff09\u306b\u57fa\u3065\u304d\u3001\u5f97\u610f\u306a\u3053\u3068\uff08\u97f3\u697d\u3084\u793e\u4f1a\u6027\u306a\u3069\uff09\u3092\u4f38\u3070\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u9762\u3078\u306e\u5bfe\u5fdc:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u52d5\u3084\u81ea\u50b7\u884c\u70ba\u306a\u3069\u306e\u884c\u52d5\u554f\u984c\u306b\u5bfe\u3057\u3066\u306f\u3001\u5fdc\u7528\u884c\u52d5\u5206\u6790\uff08ABA\uff09\u306a\u3069\u306e\u884c\u52d5\u7642\u6cd5\u3084\u3001\u74b0\u5883\u8abf\u6574\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u85ac\u7269\u7642\u6cd5\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \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>\u300c5\u756a\u67d3\u8272\u4f53\u304c\u6b20\u3051\u3066\u3044\u308b\u300d\u3068\u3044\u3046\u4e8b\u5b9f\u3060\u3051\u3067\u306a\u304f\u3001\u305d\u308c\u304c\u5177\u4f53\u7684\u306b\u3069\u306e\u3088\u3046\u306a\u898b\u901a\u3057\u306b\u3064\u306a\u304c\u308b\u306e\u304b\u3001\u5e74\u9f62\u3054\u3068\u306e\u5909\u5316\u3092\u8aac\u660e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7279\u306b\u89aa\u304c\u8ee2\u5ea7\u4fdd\u56e0\u8005\u3067\u3042\u3063\u305f\u5834\u5408\u3001\u6b21\u5b50\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u306e\u76f8\u8ac7\u3084\u3001\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u8aac\u660e\u3001\u89aa\u81ea\u8eab\u306e\u30b1\u30a2\u304c\u91cd\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>Cri du chat syndrome\uff08\u732b\u9cf4\u304d\u75c7\u5019\u7fa4\uff09\u306f\u30015\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u540d\u524d\u306f\u3001\u8d64\u3061\u3083\u3093\u306e\u9803\u306e\u6ce3\u304d\u58f0\u304c\u300c\u5b50\u732b\u306e\u3088\u3046\u306b\u9ad8\u3044\u58f0\u300d\u3067\u3042\u308b\u3053\u3068\u306b\u7531\u6765\u3057\u307e\u3059\u304c\u3001\u3053\u306e\u7279\u5fb4\u7684\u306a\u6ce3\u304d\u58f0\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u6d88\u3048\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u751f\u307e\u308c\u305f\u3070\u304b\u308a\u306e\u8d64\u3061\u3083\u3093\u304c\u5c0f\u3055\u304f\u3001\u30df\u30eb\u30af\u3092\u98f2\u3080\u529b\u304c\u5f31\u304b\u3063\u305f\u308a\u3001\u4f53\u304c\u3075\u306b\u3083\u3075\u306b\u3083\u3057\u3066\u3044\u305f\u308a\u3059\u308b\u3053\u3068\u306f\u3001\u3068\u3066\u3082\u5fc3\u914d\u306a\u3053\u3068\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u306e\u75be\u60a3\u306e\u304a\u5b50\u3055\u3093\u305f\u3061\u306f\u3001\u3086\u3063\u304f\u308a\u3067\u3059\u304c\u78ba\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u306f\u3001\u6b69\u3051\u308b\u3088\u3046\u306b\u306a\u308a\u3001\u8a00\u8449\u3084\u8eab\u632f\u308a\u3067\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u53d6\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6027\u683c\u306f\u660e\u308b\u304f\u3001\u4eba\u61d0\u3063\u3053\u304f\u3001\u97f3\u697d\u3084\u4eba\u3068\u306e\u95a2\u308f\u308a\u3092\u697d\u3057\u3080\u3053\u3068\u304c\u5927\u597d\u304d\u306a\u304a\u5b50\u3055\u3093\u304c\u591a\u3044\u3068\u8a00\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3082\u3061\u308d\u3093\u3001\u77e5\u7684\u306a\u767a\u9054\u306e\u9045\u308c\u3084\u3001\u591a\u52d5\u306a\u3069\u306e\u884c\u52d5\u9762\u3067\u306e\u8ab2\u984c\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u65e9\u671f\u304b\u3089\u7642\u80b2\uff08\u30ea\u30cf\u30d3\u30ea\uff09\u3092\u59cb\u3081\u308b\u3053\u3068\u3067\u3001\u305d\u306e\u5b50\u304c\u6301\u3063\u3066\u3044\u308b\u53ef\u80fd\u6027\u3092\u5927\u304d\u304f\u4f38\u3070\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8eab\u4f53\u7684\u306a\u5408\u4f75\u75c7\uff08\u5fc3\u81d3\u306a\u3069\uff09\u306b\u3064\u3044\u3066\u3082\u3001\u73fe\u4ee3\u306e\u533b\u7642\u3067\u9069\u5207\u306b\u7ba1\u7406\u30fb\u6cbb\u7642\u304c\u53ef\u80fd\u3067\u3059\u3002\u5bff\u547d\u306b\u3064\u3044\u3066\u3082\u3001\u91cd\u7be4\u306a\u5408\u4f75\u75c7\u304c\u306a\u3051\u308c\u3070\u3001\u901a\u5e38\u306e\u5bff\u547d\u3092\u5168\u3046\u3067\u304d\u308b\u30b1\u30fc\u30b9\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u67d3\u8272\u4f53\u3068\u3044\u3046\u300c\u8a2d\u8a08\u56f3\u300d\u306e\u4e00\u90e8\u304c\u306a\u304f\u3066\u3082\u3001\u305d\u306e\u5b50\u3089\u3057\u3055\u3068\u3044\u3046\u300c\u5f69\u308a\u300d\u306f\u5931\u308f\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u5c0f\u5150\u79d1\u533b\u3001\u7642\u6cd5\u58eb\u3001\u5fc3\u7406\u58eb\u3001\u5b66\u6821\u306e\u5148\u751f\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\u500b\u6027\u8c4a\u304b\u306a\u6210\u9577\u3092\u3001\u9577\u304f\u3001\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<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Lejeune, J., et al.<\/strong> (1963). <em>Trois cas de d\u00e9l\u00e9tion partielle du bras court d&#8217;un chromosome 5.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u30b8\u30a7\u30ed\u30fc\u30e0\u30fb\u30eb\u30b8\u30e5\u30fc\u30f3\u535a\u58eb\u3089\u304c\u3001\u4e16\u754c\u3067\u521d\u3081\u3066\u3053\u306e\u75c7\u5019\u7fa4\u3092\u5831\u544a\u3057\u3001\u30d2\u30c8\u306b\u304a\u3051\u308b\u67d3\u8272\u4f53\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u6982\u5ff5\u3092\u78ba\u7acb\u3057\u305f\u6b74\u53f2\u7684\u306a\u539f\u8457\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Mainardi, P.C., et al.<\/strong> (2006). <em>Cri du Chat syndrome.<\/em> Orphanet Journal of Rare Diseases.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u30af\u30ea\u30fb\u30c7\u30e5\u30fb\u30c1\u30e3\u30c3\u30c8\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3001\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u3001\u7ba1\u7406\u6307\u91dd\u3092\u5305\u62ec\u7684\u306b\u307e\u3068\u3081\u305f\u30ec\u30d3\u30e5\u30fc\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Zhang, X., et al.<\/strong> (2009). <em>Deletion of the semaphorin 5A gene in a woman with Cri-du-chat syndrome and autism.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b5p\u6b20\u5931\u9818\u57df\u306b\u542b\u307e\u308c\u308bSEMA5A\u907a\u4f1d\u5b50\u306a\u3069\u304c\u3001\u81ea\u9589\u75c7\u7279\u6027\u3084\u8133\u767a\u9054\u306b\u3069\u306e\u3088\u3046\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u304b\u3092\u89e3\u6790\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Medina, M., et al.<\/strong> (2000). <em>CTNND2, a gene deleted in Cri du Chat syndrome, is a neural-specific expression gene&#8230;<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bCTNND2\uff08\u30c7\u30eb\u30bf\u30fb\u30ab\u30c6\u30cb\u30f3\uff09\u907a\u4f1d\u5b50\u304c\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308b\u3053\u3068\u3092\u7a81\u304d\u6b62\u3081\u305f\u91cd\u8981\u306a\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>Cri du Chat syndrome<\/em> (2018).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u5e74\u9f62\u3054\u3068\u306e\u7279\u5fb4\u3001\u884c\u52d5\u9762\u3078\u306e\u5bfe\u5fdc\u3001\u7642\u80b2\u306e\u5b9f\u8df5\u7684\u306a\u30a2\u30c9\u30d0\u30a4\u30b9\u306a\u3069\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>5p Deletion (Cri du Chat Syndrome)<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u8a3a\u65ad\u57fa\u6e96\u3001\u6700\u65b0\u306e\u7ba1\u7406\u6307\u91dd\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u60c5\u5831\u3092\u7db2\u7f85\u3057\u305f\u3001\u81e8\u5e8a\u73fe\u5834\u3067\u6700\u3082\u4fe1\u983c\u3055\u308c\u308b\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-17267","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\/17267","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\/17267\/revisions"}],"predecessor-version":[{"id":17269,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17267\/revisions\/17269"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17267"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}