{"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":"2026-07-18T09:51:48","modified_gmt":"2026-07-18T09:51:48","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":"\u732b\u9cf4\u304d\u75c7\u5019\u7fa4\uff085p\u6b20\u5931\u75c7\u5019\u7fa4\uff09\u3068\u306f\uff1f\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u7279\u5fb4\u3068\u691c\u67fb\u3092\u89e3\u8aac"},"content":{"rendered":"\n<style>.hiro-box{border:2px solid #6aa9d6;border-radius:10px;padding:20px 24px;margin:24px 0;background:#f2f8fc;}.hiro-box p.hiro-box-ttl{font-weight:700;font-size:1.08em;margin:0 0 12px;}.hiro-box ul{margin:0;padding-left:1.3em;line-height:1.9;}.hiro-box li{text-indent:0 !important;list-style:disc;}<\/style>\n<div class=\"hiro-box\">\n<p 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class=\"wp-block-heading\">\u732b\u9cf4\u304d\u75c7\u5019\u7fa4\uff085p\u6b20\u5931\u75c7\u5019\u7fa4\uff09\u3068\u306f\uff1f\u5225\u540d\u3068\u7279\u5fb4<\/h2>\n\n\n\n<p><strong>\u732b\u9cf4\u304d\u75c7\u5019\u7fa4\u306f\u30015\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u3001\u77e5\u7684\u30fb\u8eab\u4f53\u7684\u306a\u767a\u9054\u306b\u3086\u3063\u304f\u308a\u3068\u3057\u305f\u5f71\u97ff\u304c\u3042\u3089\u308f\u308c\u308b\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002<\/strong>\u3044\u304f\u3064\u304b\u306e\u547c\u3073\u540d\u304c\u3042\u308a\u3001\u5834\u9762\u306b\u3088\u3063\u3066\u4f7f\u3044\u5206\u3051\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u5225\u540d\u30fb\u547c\u79f0<\/th><th>\u7531\u6765\u30fb\u610f\u5473<\/th><\/tr><\/thead><tbody><tr><td>\u732b\u9cf4\u304d\u75c7\u5019\u7fa4 \/ Cat cry syndrome<\/td><td>\u4e73\u5150\u671f\u306e\u7532\u9ad8\u3044\u6ce3\u304d\u58f0\u306b\u7531\u6765\u3059\u308b\u3001\u6700\u3082\u4e00\u822c\u7684\u306a\u547c\u3073\u540d<\/td><\/tr><tr><td>5p\u6b20\u5931\u75c7\u5019\u7fa4 \/ 5p-\uff08\u30de\u30a4\u30ca\u30b9\uff09\u75c7\u5019\u7fa4<\/td><td>5\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306e\u6b20\u5931\u3068\u3044\u3046\u67d3\u8272\u4f53\u306e\u72b6\u614b\u3092\u8868\u3059\u3001\u6700\u3082\u6b63\u78ba\u306a\u540d\u79f0<\/td><\/tr><tr><td>\u30eb\u30b8\u30e5\u30fc\u30f3\u75c7\u5019\u7fa4<\/td><td>1963\u5e74\u306b\u4e16\u754c\u3067\u521d\u3081\u3066\u5831\u544a\u3057\u305f\u30d5\u30e9\u30f3\u30b9\u306eJ.\u30eb\u30b8\u30e5\u30fc\u30f3\u535a\u58eb\u306b\u3061\u306a\u3080\u540d\u79f0<\/td><\/tr><tr><td>5\u756a\u67d3\u8272\u4f53\u77ed\u8155\u6b20\u5931\u75c7\u5019\u7fa4<\/td><td>\u6b20\u3051\u3066\u3044\u308b\u90e8\u4f4d\u3092\u65e5\u672c\u8a9e\u3067\u8868\u3057\u305f\u540d\u79f0<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u306a\u304a\u3001\u540c\u3058\u3088\u3046\u306b\u67d3\u8272\u4f53\u306e\u77ed\u8155\u304c\u6b20\u3051\u3066\u751f\u3058\u308b\u75be\u60a3\u306b\u30014\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306e\u6b20\u5931\u306b\u3088\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/wolf-hirshhorn-syndrome-whs\/\">\u30a6\u30a9\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30eb\u30f3\u75c7\u5019\u7fa4\uff084p\u6b20\u5931\u75c7\u5019\u7fa4\uff09<\/a>\u304c\u3042\u308a\u307e\u3059\u3002\u540d\u524d\u306f\u4f3c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u67d3\u8272\u4f53\u306e\u306a\u308a\u305f\u3061\u3068\u3044\u3046\u70b9\u3067\u306f\u5144\u5f1f\u306e\u3088\u3046\u306a\u95a2\u4fc2\u306b\u3042\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5bfe\u8c61\u3068\u306a\u308b\u67d3\u8272\u4f53\u9818\u57df\uff085\u756a\u67d3\u8272\u4f53\u77ed\u815515.2\u301c15.3\uff09<\/h2>\n\n\n\n<p><strong>\u672c\u75be\u60a3\u306f\u30015\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306e\u672b\u7aef\u90e8\u5206\u304c\u6b20\u5931\u3057\u3001\u305d\u306e\u9818\u57df\u306e\u907a\u4f1d\u5b50\u304c1\u672c\u5206\u306b\u306a\u308b\u3053\u3068\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3067\u751f\u3058\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>5\u756a\u67d3\u8272\u4f53\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\u305f\u3060\u3057\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306b\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u3001\u5171\u901a\u3057\u3066\u6b20\u3051\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\u306e\u3088\u3046\u306a\u6ce3\u304d\u58f0\u306e\u539f\u56e0\uff09\uff1a<\/strong>\u5589\u982d\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u9818\u57df\u3068\u8003\u3048\u3089\u308c\u3066\u304a\u308a\u3001\u3053\u3053\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u7279\u5fb4\u7684\u306a\u9ad8\u3044\u6ce3\u304d\u58f0\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>5p15.2\u9818\u57df\uff08\u8eab\u4f53\u30fb\u77e5\u7684\u767a\u9054\u306e\u539f\u56e0\uff09\uff1a<\/strong>\u3053\u306e\u9818\u57df\u306b\u306f <em>CTNND2<\/em>\uff08\u30c7\u30eb\u30bf\u30fb\u30ab\u30c6\u30cb\u30f3\uff09\u3084 <em>SEMA5A<\/em>\u3001<em>TERT<\/em> \u306a\u3069\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u3068\u304f\u306b <em>CTNND2<\/em> 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class=\"wp-block-list\">\n<li><strong>\u983b\u5ea6\uff1a<\/strong>\u51fa\u751f <strong>15,000\u301c50,000\u4eba\u306b1\u4eba<\/strong>\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\uff08\u6587\u732e\u306b\u3088\u308a\u5e45\u304c\u3042\u308a\u307e\u3059\uff09\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee\uff1a<\/strong>\u5973\u5150\u306e\u307b\u3046\u304c\u7537\u5150\u3088\u308a\u3084\u3084\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\uff08\u5973\u5150\uff1a\u7537\u5150\uff1d\u7d044\uff1a3\uff09\u3002<\/li>\n\n\n\n<li>\u5168\u4eba\u7a2e\u306b\u307f\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\">\u732b\u9cf4\u304d\u75c7\u5019\u7fa4\u306e\u4e3b\u306a\u75c7\u72b6\u30fb\u7279\u5fb4\u3010\u5e74\u9f62\u5225\u3011<\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1344\" height=\"768\" src=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17267-h2-1.jpg\" alt=\"\u7720\u308b\u8d64\u3061\u3083\u3093\u3092\u5927\u4eba\u306e\u624b\u304c\u512a\u3057\u304f\u5305\u307f\u8fbc\u3080\u30a4\u30e9\u30b9\u30c8\" class=\"wp-image-17802\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17267-h2-1.jpg 1344w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17267-h2-1-300x171.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17267-h2-1-1024x585.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17267-h2-1-768x439.jpg 768w\" sizes=\"(max-width: 1344px) 100vw, 1344px\" \/><\/figure><\/div>\n\n\n<p><strong>\u75c7\u72b6\u306f\u5e74\u9f62\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u307e\u3059\u3002<\/strong>\u4e73\u5150\u671f\u306f\u300c\u6ce3\u304d\u58f0\u300d\u3084\u300c\u9854\u3064\u304d\u300d\u304c\u76ee\u7acb\u3061\u307e\u3059\u304c\u3001\u6210\u9577\u3059\u308b\u3068\u300c\u904b\u52d5\u30fb\u77e5\u7684\u767a\u9054\u300d\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u4e2d\u5fc3\u7684\u306a\u8ab2\u984c\u306b\u306a\u308a\u307e\u3059\u3002\u307e\u305a\u5168\u4f53\u50cf\u3092\u5e74\u9f62\u5225\u306b\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u6642\u671f<\/th><th>\u4e3b\u306b\u307f\u3089\u308c\u308b\u7279\u5fb4<\/th><\/tr><\/thead><tbody><tr><td>\u65b0\u751f\u5150\u671f\u301c\u4e73\u5150\u671f<\/td><td>\u5b50\u732b\u306e\u3088\u3046\u306a\u9ad8\u3044\u6ce3\u304d\u58f0\u3001\u4f4e\u51fa\u751f\u4f53\u91cd\u3001\u54fa\u4e73\u529b\u306e\u5f31\u3055\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u5c0f\u982d\u75c7\u3001\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d<\/td><\/tr><tr><td>\u5e7c\u5150\u671f\u301c\u5b66\u7ae5\u671f<\/td><td>\u4e38\u9854\u304b\u3089\u9762\u9577\u3078\u306e\u5909\u5316\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u3001\u77e5\u7684\u969c\u5bb3\u3001\u8a00\u8449\u306e\u9045\u308c\uff08\u7406\u89e3\u304c\u767a\u8a71\u3088\u308a\u5148\u884c\uff09<\/td><\/tr><tr><td>\u5168\u5e74\u9f62\u3092\u901a\u3058\u3066<\/td><td>\u4eba\u61d0\u3063\u3053\u304f\u7b11\u9854\u304c\u591a\u3044\u6027\u683c\u3001\u97f3\u697d\u3092\u597d\u3080\u50be\u5411\u3001\u591a\u52d5\u3084\u7761\u7720\u306e\u8ab2\u984c\u304c\u3042\u3089\u308f\u308c\u308b\u3053\u3068\u3082<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\">\u65b0\u751f\u5150\u671f\u30fb\u4e73\u5150\u671f\u306e\u7279\u5fb4<\/h3>\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>\u6700\u5927\u306e\u7279\u5fb4\u3067\u3042\u308a\u3001\u8a3a\u65ad\u306e\u304d\u3063\u304b\u3051\u306b\u306a\u308a\u307e\u3059\u3002\u5b50\u732b\u304c\u9cf4\u304f\u3088\u3046\u306a\u3001\u7532\u9ad8\u304f\u5f31\u3005\u3057\u3044\u5358\u8abf\u306a\u6ce3\u304d\u58f0\u3067\u3059\u3002\u5589\u982d\uff08\u306e\u3069\u307c\u3068\u3051\uff09\u306e\u5f62\u6210\u4e0d\u5168\u3084\u3001\u795e\u7d4c\u5b66\u7684\u306a\u8981\u56e0\u306b\u3088\u308b\u58f0\u5e2f\u306e\u52d5\u304d\u306e\u554f\u984c\u304c\u80cc\u666f\u306b\u3042\u308a\u307e\u3059\u3002\u751f\u5f8c\u6570\u9031\u9593\u301c\u6570\u304b\u6708\u304c\u3082\u3063\u3068\u3082\u76ee\u7acb\u3061\u3001\u591a\u304f\u306f2\u6b73\u9803\u307e\u3067\u306b\u3084\u308f\u3089\u3044\u3067\u3044\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u51fa\u751f\u4f53\u91cd\u30fb\u6210\u9577\u306e\u3086\u3063\u304f\u308a\u3055\uff1a<\/strong>\u80ce\u5185\u3067\u306e\u767a\u80b2\u304c\u3086\u3063\u304f\u308a\u3067\u3001\u5c0f\u3055\u304f\u751f\u307e\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u307f\u3089\u308c\u307e\u3059\u3002\u751f\u307e\u308c\u305f\u5f8c\u3082\u4f53\u91cd\u304c\u5897\u3048\u306b\u304f\u304f\u3001\u5438\u3046\u529b\u304c\u5f31\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\uff09\uff1a<\/strong>\u5168\u8eab\u306e\u7b4b\u8089\u306e\u5f35\u308a\u304c\u5f31\u304f\u3001\u62b1\u3063\u3053\u3059\u308b\u3068\u3084\u308f\u3089\u304b\u3044\u611f\u3058\u304c\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u982d\u75c7\uff1a<\/strong>\u982d\u56f2\u304c\u5c0f\u3055\u3081\u3067\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u305d\u306e\u50be\u5411\u304c\u306f\u3063\u304d\u308a\u3057\u3066\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\uff1a<\/strong>\u4e38\u9854\uff08\u6e80\u6708\u69d8\u9854\u8c8c\uff09\u3001\u76ee\u306e\u9593\u304c\u5e83\u3044\u3001\u76ee\u982d\u306e\u3072\u3060\uff08\u5185\u773c\u89d2\u8d05\u76ae\uff09\u3001\u9f3b\u306e\u4ed8\u3051\u6839\u304c\u5e83\u304f\u5e73\u5766\u3001\u3042\u3054\u304c\u5c0f\u3055\u3044\u3001\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u306a\u3069\u304c\u307f\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u5e7c\u5150\u671f\u301c\u5b66\u7ae5\u671f\u306e\u7279\u5fb4<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9854\u3064\u304d\u306e\u5909\u5316\uff1a<\/strong>\u4e73\u5150\u671f\u306e\u4e38\u9854\u304b\u3089\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u9762\u9577\u3078\u3068\u5909\u308f\u3063\u3066\u3044\u304d\u307e\u3059\u3002\u6b6f\u4e26\u3073\u306e\u554f\u984c\uff08\u4e0d\u6b63\u54ac\u5408\uff09\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\u306e\u3086\u3063\u304f\u308a\u3055\uff1a<\/strong>\u9996\u3059\u308f\u308a\u30fb\u304a\u5ea7\u308a\u30fb\u6b69\u884c\u306a\u3069\u306e\u7bc0\u76ee\u304c\u9045\u308c\u307e\u3059\u3002\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u306f2\u301c6\u6b73\u9803\u306b\u81ea\u5206\u306e\u8db3\u3067\u6b69\u3051\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002\u7b4b\u7dca\u5f35\u306f\u3001\u4e73\u5150\u671f\u306e\u4f4e\u4e0b\u304b\u3089\u3001\u5f90\u3005\u306b\u4f53\u304c\u786c\u304f\u306a\u308b\u65b9\u5411\u3078\u5909\u308f\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff1a<\/strong>\u91cd\u5ea6\u301c\u6700\u91cd\u5ea6\u3092\u3068\u3082\u306a\u3046\u3053\u3068\u304c\u591a\u3044\u3082\u306e\u306e\u3001\u6b20\u3051\u3066\u3044\u308b\u7bc4\u56f2\u306b\u3088\u3063\u3066\u306f\u4e2d\u7b49\u5ea6\u306e\u3053\u3068\u3082\u3042\u308a\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u90e8\u5206\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8449\u306e\u767a\u9054\uff1a<\/strong>\u8a00\u8449\u306e\u9045\u308c\u304c\u76ee\u7acb\u3061\u307e\u3059\u3002\u8a71\u3059\u3053\u3068\u3088\u308a\u3082\u3001\u3053\u3061\u3089\u306e\u8a00\u3046\u3053\u3068\u3092\u7406\u89e3\u3059\u308b\u529b\u306e\u307b\u3046\u304c\u9ad8\u3044\u50be\u5411\u3067\u3059\u3002\u6570\u8a9e\u3084\u77ed\u3044\u6587\u3092\u8a71\u305b\u308b\u5b50\u3082\u3044\u308c\u3070\u3001\u8eab\u3076\u308a\u3084\u7d75\u30ab\u30fc\u30c9\u3092\u4e3b\u306a\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u306b\u3059\u308b\u5b50\u3082\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u884c\u52d5\u30fb\u6027\u683c\u9762\u306e\u7279\u6027<\/h3>\n\n\n\n<p>\u660e\u308b\u304f\u4eba\u61d0\u3063\u3053\u3044\u6027\u683c\u306e\u304a\u5b50\u3055\u3093\u304c\u591a\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7b11\u9854\u304c\u591a\u304f\u3001\u97f3\u697d\u3092\u597d\u3080\u50be\u5411\u3082\u307f\u3089\u308c\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u6b21\u306e\u3088\u3046\u306a\u884c\u52d5\u9762\u306e\u8ab2\u984c\u304c\u3042\u3089\u308f\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u591a\u52d5\u3084\u885d\u52d5\u6027\uff08ADHD\u306b\u4f3c\u305f\u69d8\u5b50\uff09\u3002<\/li>\n\n\n\n<li>\u982d\u3092\u53e9\u304f\u30fb\u624b\u3092\u565b\u3080\u306a\u3069\u306e\u81ea\u50b7\u884c\u70ba\u3001\u540c\u3058\u52d5\u304d\u3092\u304f\u308a\u8fd4\u3059\u5e38\u540c\u884c\u52d5\u3002<\/li>\n\n\n\n<li>\u7279\u5b9a\u306e\u97f3\u3092\u5acc\u304c\u308b\u611f\u899a\u904e\u654f\u3084\u3001\u5bdd\u3064\u304d\u306e\u60aa\u3055\u30fb\u591c\u9593\u306e\u76ee\u899a\u3081\u3068\u3044\u3063\u305f\u7761\u7720\u306e\u8ab2\u984c\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u3068\u3082\u306a\u3044\u3084\u3059\u3044\u8eab\u4f53\u7684\u306a\u5408\u4f75\u75c7<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3\uff1a<\/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\uff1a<\/strong>\u5074\u5f2f\u75c7\uff08\u80cc\u9aa8\u306e\u66f2\u304c\u308a\uff09\u3001\u6241\u5e73\u8db3\u3001\u9f20\u5f84\u30d8\u30eb\u30cb\u30a2\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\uff1a<\/strong>\u814e\u81d3\u306e\u5f62\u306e\u7570\u5e38\u3001\u304f\u308a\u8fd4\u3059\u4e2d\u8033\u708e\u3084\u547c\u5438\u5668\u306e\u611f\u67d3\u3001\u4fbf\u79d8\u3001\u98f2\u307f\u8fbc\u307f\u306b\u304f\u3055\uff08\u56a5\u4e0b\u969c\u5bb3\uff09\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u732b\u9cf4\u304d\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3068\u907a\u4f1d\u30fb\u518d\u767a\u30ea\u30b9\u30af<\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1344\" height=\"768\" src=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17267-h2-2.jpg\" alt=\"\u67d3\u8272\u4f53\u3092\u8868\u3059\u62bd\u8c61\u7684\u306a\u4e8c\u91cd\u3089\u305b\u3093\u30ea\u30dc\u30f3\u306e\u30a4\u30e9\u30b9\u30c8\" class=\"wp-image-17803\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17267-h2-2.jpg 1344w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17267-h2-2-300x171.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17267-h2-2-1024x585.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17267-h2-2-768x439.jpg 768w\" sizes=\"(max-width: 1344px) 100vw, 1344px\" \/><\/figure><\/div>\n\n\n<p><strong>\u539f\u56e0\u306f5\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff085p\uff09\u306e\u90e8\u5206\u7684\u306a\u6b20\u5931\u3067\u3059\u3002\u306a\u305c\u6b20\u5931\u304c\u8d77\u3053\u3063\u305f\u306e\u304b\u306b\u3088\u3063\u3066\u30bf\u30a4\u30d7\u304c\u5206\u304b\u308c\u3001\u3053\u308c\u304c\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u3092\u5de6\u53f3\u3057\u307e\u3059\u3002<\/strong>\u307e\u305a\u30bf\u30a4\u30d7\u5225\u306b\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u30bf\u30a4\u30d7<\/th><th>\u5272\u5408\u306e\u76ee\u5b89<\/th><th>\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af<\/th><\/tr><\/thead><tbody><tr><td>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/td><td>\u7d0485\u301c90%<\/td><td>\u975e\u5e38\u306b\u4f4e\u3044\uff08\u4e00\u822c\u96c6\u56e3\u3068\u307b\u307c\u540c\u3058\uff09<\/td><\/tr><tr><td>\u4e0d\u5747\u8861\u578b\u8ee2\u5ea7<\/td><td>\u7d0410\u301c15%<\/td><td>\u89aa\u304c\u8ee2\u5ea7\u4fdd\u56e0\u8005\u306a\u3089\u9ad8\u304f\u306a\u308b\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u5fc5\u8981<\/td><\/tr><tr><td>\u30e2\u30b6\u30a4\u30af\u578b<\/td><td>\u307e\u308c<\/td><td>\u72b6\u614b\u306b\u3088\u308a\u500b\u5225\u8a55\u4fa1\u304c\u5fc5\u8981<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\">1. De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\uff1a\u7d0485\u301c90%<\/h3>\n\n\n\n<p>\u3082\u3063\u3068\u3082\u591a\u3044\u30bf\u30a4\u30d7\u3067\u3059\u3002\u3054\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u3064\u304f\u3089\u308c\u308b\u3068\u304d\u3084\u53d7\u7cbe\u76f4\u5f8c\u306b\u3001\u5076\u71365\u756a\u67d3\u8272\u4f53\u306e\u7aef\u304c\u3061\u304e\u308c\u3066\u5931\u308f\u308c\u305f\u3082\u306e\u3067\u3059\u3002\u89aa\u306e\u5e74\u9f62\u3084\u74b0\u5883\u8981\u56e0\u3068\u306f\u95a2\u4fc2\u306a\u304f\u8d77\u3053\u308a\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4e00\u822c\u96c6\u56e3\u3068\u307b\u3068\u3093\u3069\u5909\u308f\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">2. \u4e0d\u5747\u8861\u578b\u8ee2\u5ea7\uff1a\u7d0410\u301c15%<\/h3>\n\n\n\n<p>\u5bb6\u65cf\u6027\uff08\u907a\u4f1d\u6027\uff09\u306e\u53ef\u80fd\u6027\u304c\u3042\u308b\u30bf\u30a4\u30d7\u3067\u3059\u3002\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c<strong>\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d<\/strong>\uff08\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u3082\u306e\u306e\u91cf\u306f\u6b63\u5e38\u3067\u3001\u3054\u672c\u4eba\u306f\u5065\u5eb7\uff09\u3092\u6301\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u67d3\u8272\u4f53\u304c\u53d7\u3051\u7d99\u304c\u308c\u308b\u969b\u306b\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u30015\u756a\u67d3\u8272\u4f53\u306e\u4e0d\u8db3\uff08\u6b20\u5931\uff09\u304c\u751f\u3058\u307e\u3059\u3002\u89aa\u304c\u8ee2\u5ea7\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u306b\u3082\u75c7\u72b6\u304c\u51fa\u308b\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u306a\u308b\u305f\u3081\u3001\u8a73\u3057\u3044\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">3. \u30e2\u30b6\u30a4\u30af\u578b\uff1a\u307e\u308c<\/h3>\n\n\n\n<p>\u6b63\u5e38\u306a\u7d30\u80de\u3068\u30015p\u6b20\u5931\u3092\u6301\u3064\u7d30\u80de\u304c\u4f53\u306e\u306a\u304b\u306b\u6df7\u5728\u3057\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002\u75c7\u72b6\u306f\u6bd4\u8f03\u7684\u8efd\u304f\u306a\u308b\u50be\u5411\u304c\u307f\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u732b\u9cf4\u304d\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u65b9\u6cd5<\/h2>\n\n\n\n<p><strong>\u7279\u5fb4\u7684\u306a\u6ce3\u304d\u58f0\u3068\u8a3a\u5bdf\u6240\u898b\u304b\u3089\u7591\u3044\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/strong>\u4f7f\u308f\u308c\u308b\u691c\u67fb\u306f\u6b21\u306e\u3068\u304a\u308a\u3067\u3059\u3002\u67d3\u8272\u4f53\u306e\u691c\u67fb\u5168\u822c\u306e\u4f4d\u7f6e\u3065\u3051\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinical-genetic-testing-overview\/\">\u81e8\u5e8a\u73fe\u5834\u3067\u884c\u308f\u308c\u3066\u3044\u308b\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3064\u3044\u3066<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\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>\u4ee5\u524d\u304b\u3089\u884c\u308f\u308c\u3066\u3044\u308b\u6a19\u6e96\u7684\u306a\u691c\u67fb\u3067\u3059\u3002\u9855\u5fae\u93e1\u30675\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\u304c\u77ed\u304f\u306a\u3063\u3066\u3044\u308b\u3053\u3068\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u6b20\u5931\u304c\u975e\u5e38\u306b\u5c0f\u3055\u3044\u5834\u5408\uff08\u5fae\u5c0f\u6b20\u5931\uff09\u306f\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>FISH\u6cd5\uff1a<\/strong>5p15.2\uff08\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\uff09\u306b\u5bfe\u3059\u308b\u86cd\u5149\u6a19\u8b58\u306e\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u3001\u6b20\u5931\u306e\u6709\u7121\u3092\u30d4\u30f3\u30dd\u30a4\u30f3\u30c8\u3067\u78ba\u8a8d\u3057\u307e\u3059\u3002G\u30d0\u30f3\u30c9\u3067\u308f\u304b\u3089\u306a\u3044\u5fae\u5c0f\u306a\u6b20\u5931\u3082\u691c\u51fa\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\uff1a<\/strong>\u73fe\u5728\u306e\u8a3a\u65ad\u3067\u7b2c\u4e00\u9078\u629e\uff08\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff09\u306b\u306a\u308a\u3064\u3064\u3042\u308b\u691c\u67fb\u3067\u3059\u3002\u30b2\u30ce\u30e0\u5168\u4f53\u3092\u30b9\u30ad\u30e3\u30f3\u3057\u3001\u6b20\u5931\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\u3084\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u3092\u8a73\u3057\u304f\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002\u3042\u308b\u7a0b\u5ea6\u306e\u4e88\u5f8c\u4e88\u6e2c\u306b\u3082\u5f79\u7acb\u3061\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff1a<\/strong>\u304a\u5b50\u3055\u3093\u306e\u8a3a\u65ad\u304c\u78ba\u5b9a\u3057\u305f\u5f8c\u3001\u8ee2\u5ea7\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u5148\u5929\u6027\u306e\u75be\u60a3\u3068\u691c\u67fb\u306e\u95a2\u4fc2\u3092\u5e83\u304f\u77e5\u308a\u305f\u3044\u65b9\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-testing-overview\/\">\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u898b\u308b\u5148\u5929\u6027\u75be\u60a3\u3068\u305d\u306e\u4e88\u9632\u7b56<\/a>\u3082\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button has-custom-width wp-block-button__width-75\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/\">\u907a\u4f1d\u5b50\u691c\u67fb\u30fb\u51fa\u751f\u524d\u691c\u67fb\u306b\u3064\u3044\u3066\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306b\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u732b\u9cf4\u304d\u75c7\u5019\u7fa4\u306e\u6cbb\u7642\u30fb\u7642\u80b2\u3068\u30b5\u30dd\u30fc\u30c8<\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1344\" height=\"768\" src=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17267-h2-3.jpg\" alt=\"\u5c02\u9580\u5bb6\u304c\u8d64\u3061\u3083\u3093\u3092\u62b1\u304f\u4fdd\u8b77\u8005\u306b\u5bc4\u308a\u6dfb\u3044\u76f8\u8ac7\u3059\u308b\u30a4\u30e9\u30b9\u30c8\" class=\"wp-image-17804\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17267-h2-3.jpg 1344w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17267-h2-3-300x171.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17267-h2-3-1024x585.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17267-h2-3-768x439.jpg 768w\" sizes=\"(max-width: 1344px) 100vw, 1344px\" \/><\/figure><\/div>\n\n\n<p><strong>\u6b20\u5931\u3057\u305f\u67d3\u8272\u4f53\u3092\u5143\u306b\u623b\u3059\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u5408\u4f75\u75c7\u3078\u306e\u533b\u7642\u7684\u30b1\u30a2\u3068\u3001\u767a\u9054\u3092\u6700\u5927\u9650\u306b\u4fc3\u3059\u7642\u80b2\uff08\u65e9\u671f\u4ecb\u5165\uff09\u306b\u3088\u3063\u3066\u3001\u751f\u6d3b\u306e\u8cea\u306f\u5927\u304d\u304f\u9ad8\u307e\u308a\u307e\u3059\u3002<\/strong>\u65e9\u671f\u304b\u3089\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u3068\u3066\u3082\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">1. \u65e9\u671f\u7642\u80b2\u30fb\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\uff1a<\/strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u5bfe\u3057\u3066\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\u5074\u5f2f\u75c7\u306e\u4e88\u9632\u3084\u7ba1\u7406\u3082\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\uff1a<\/strong>\u624b\u5148\u306e\u7d30\u304b\u306a\u52d5\u304d\u306e\u8a13\u7df4\u3084\u3001\u611f\u899a\u904e\u654f\u3078\u306e\u5bfe\u5fdc\uff08\u611f\u899a\u7d71\u5408\u7642\u6cd5\uff09\u3092\u884c\u3044\u307e\u3059\u3002\u98df\u5177\u306e\u4f7f\u3044\u65b9\u3084\u7740\u66ff\u3048\u306a\u3069\u3001\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u306e\u81ea\u7acb\u3092\u652f\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a<\/strong>\u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u30b5\u30a4\u30f3\u8a00\u8a9e\u30fb\u7d75\u30ab\u30fc\u30c9\uff08PECS\uff09\u30fb\u30bf\u30d6\u30ec\u30c3\u30c8\u306a\u3069\u306e\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff08AAC\uff09\u3092\u65e9\u671f\u304b\u3089\u53d6\u308a\u5165\u308c\u307e\u3059\u3002\u98f2\u307f\u8fbc\u307f\u306b\u304f\u3055\u306b\u5bfe\u3059\u308b\u5b89\u5168\u306a\u98df\u3079\u65b9\u306e\u6307\u5c0e\u3082\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">2. \u533b\u7642\u7684\u30b1\u30a2<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u75be\u60a3\u306f\u3001\u6b20\u640d\u306e\u7a74\u304c\u5927\u304d\u3044\u5834\u5408\u306b\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u9f20\u5f84\u30d8\u30eb\u30cb\u30a2\u3084\u505c\u7559\u7cbe\u5de3\u3001\u53e3\u84cb\u88c2\u306a\u3069\u304c\u3042\u308c\u3070\u3001\u5916\u79d1\u7684\u306a\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b6f\u4e26\u3073\u3084\u3080\u3057\u6b6f\u306e\u7ba1\u7406\u3001\u4e2d\u8033\u708e\u3084\u96e3\u8074\u306e\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u3082\u5927\u5207\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">3. \u6559\u80b2\u30fb\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8<\/h3>\n\n\n\n<p>\u7279\u5225\u652f\u63f4\u5b66\u6821\u3084\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u3001\u304a\u5b50\u3055\u3093\u306e\u7279\u6027\u306b\u5408\u3063\u305f\u74b0\u5883\u3092\u9078\u3073\u307e\u3059\u3002\u500b\u5225\u306e\u6559\u80b2\u652f\u63f4\u8a08\u753b\uff08IEP\uff09\u306b\u3082\u3068\u3065\u304d\u3001\u97f3\u697d\u3084\u793e\u4f1a\u6027\u3068\u3044\u3063\u305f\u5f97\u610f\u306a\u3053\u3068\u3092\u4f38\u3070\u3057\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002\u591a\u52d5\u3084\u81ea\u50b7\u306a\u3069\u306e\u884c\u52d5\u9762\u306b\u306f\u3001\u5fdc\u7528\u884c\u52d5\u5206\u6790\uff08ABA\uff09\u306a\u3069\u306e\u884c\u52d5\u7642\u6cd5\u3084\u74b0\u5883\u8abf\u6574\u3067\u5bfe\u5fdc\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u85ac\u7269\u7642\u6cd5\u3082\u691c\u8a0e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">4. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/h3>\n\n\n\n<p>\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\u5e74\u9f62\u3054\u3068\u306b\u3069\u306e\u3088\u3046\u306a\u898b\u901a\u3057\u306b\u3064\u306a\u304c\u308b\u306e\u304b\u3092\u3066\u3044\u306d\u3044\u306b\u6574\u7406\u3057\u307e\u3059\u3002\u3068\u304f\u306b\u89aa\u304c\u8ee2\u5ea7\u4fdd\u56e0\u8005\u3060\u3063\u305f\u5834\u5408\u306f\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u306e\u30ea\u30b9\u30af\u76f8\u8ac7\u3084\u3001\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u8aac\u660e\u3001\u89aa\u5fa1\u3055\u3093\u81ea\u8eab\u306e\u5fc3\u306e\u30b1\u30a2\u304c\u91cd\u8981\u306b\u306a\u308a\u307e\u3059\u3002\u3072\u3068\u308a\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u5c02\u9580\u5bb6\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u732b\u9cf4\u304d\u75c7\u5019\u7fa4\u306b\u95a2\u3059\u308b\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q1. \u732b\u9cf4\u304d\u75c7\u5019\u7fa4\u3068\u306f\u3069\u3093\u306a\u75c5\u6c17\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>5\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff085p\uff09\u306e\u4e00\u90e8\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u5148\u5929\u6027\u306e\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u30025p\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u3082\u547c\u3070\u308c\u307e\u3059\u3002\u4e73\u5150\u671f\u306e\u5b50\u732b\u306e\u3088\u3046\u306a\u9ad8\u3044\u6ce3\u304d\u58f0\u3001\u4f4e\u51fa\u751f\u4f53\u91cd\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u767a\u9054\u306e\u3086\u3063\u304f\u308a\u3055\u306a\u3069\u304c\u7279\u5fb4\u3067\u3001\u75c7\u72b6\u306e\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q2. \u732b\u9cf4\u304d\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u306f\u4f55\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>5\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306e\u90e8\u5206\u7684\u306a\u6b20\u5931\u304c\u539f\u56e0\u3067\u3059\u3002\u7d0485\u301c90%\u306f\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u3064\u304f\u3089\u308c\u308b\u3068\u304d\u306b\u5076\u7136\u8d77\u3053\u308b\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08De novo\uff09\u3067\u3001\u89aa\u306e\u5e74\u9f62\u3084\u751f\u6d3b\u7fd2\u6163\u3068\u306f\u95a2\u4fc2\u3042\u308a\u307e\u305b\u3093\u3002\u6b8b\u308a\u306e\u7d0410\u301c15%\u306f\u3001\u89aa\u306e\u67d3\u8272\u4f53\u306e\u8ee2\u5ea7\u304c\u95a2\u4fc2\u3059\u308b\u4e0d\u5747\u8861\u578b\u8ee2\u5ea7\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q3. \u732b\u9cf4\u304d\u75c7\u5019\u7fa4\u306f\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f\u6b21\u306e\u5b50\u3078\u306e\u5f71\u97ff\u306f\uff1f<\/h3>\n\n\n\n<p>\u591a\u304f\u3092\u5360\u3081\u308b\u65b0\u751f\u7a81\u7136\u5909\u7570\u306e\u30bf\u30a4\u30d7\u3067\u306f\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4e00\u822c\u96c6\u56e3\u3068\u307b\u307c\u5909\u308f\u308a\u307e\u305b\u3093\u3002\u4e00\u65b9\u3001\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u518d\u767a\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002\u3069\u306e\u30bf\u30a4\u30d7\u304b\u306f\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3067\u78ba\u8a8d\u3067\u304d\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u898b\u901a\u3057\u3092\u6574\u7406\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q4. \u732b\u306e\u3088\u3046\u306a\u6ce3\u304d\u58f0\u306f\u3044\u3064\u307e\u3067\u7d9a\u304d\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>\u751f\u5f8c\u6570\u9031\u9593\u301c\u6570\u304b\u6708\u304c\u3082\u3063\u3068\u3082\u76ee\u7acb\u3061\u307e\u3059\u3002\u5589\u982d\u306e\u6210\u9577\u3068\u3068\u3082\u306b\u5f90\u3005\u306b\u3084\u308f\u3089\u304e\u3001\u591a\u304f\u306e\u5834\u5408\u306f2\u6b73\u9803\u307e\u3067\u306b\u76ee\u7acb\u305f\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u58f0\u306e\u9ad8\u3055\u3084\u8a71\u3057\u65b9\u306e\u7279\u5fb4\u3068\u3057\u3066\u6b8b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q5. 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class=\"wp-block-heading\">\u307e\u3068\u3081<\/h2>\n\n\n\n<p>\u732b\u9cf4\u304d\u75c7\u5019\u7fa4\uff085p\u6b20\u5931\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\u540d\u524d\u306f\u8d64\u3061\u3083\u3093\u306e\u9803\u306e\u9ad8\u3044\u6ce3\u304d\u58f0\u306b\u7531\u6765\u3057\u307e\u3059\u304c\u3001\u3053\u306e\u6ce3\u304d\u58f0\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u6d88\u3048\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\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\u3084\u308f\u3089\u304b\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u306f\u3001\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3068\u3066\u3082\u5fc3\u914d\u306a\u3053\u3068\u3067\u3057\u3087\u3046\u3002\u305d\u308c\u3067\u3082\u3001\u3053\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>\u79c1\u305f\u3061\u304c\u8a3a\u7642\u306e\u73fe\u5834\u3067\u3054\u5bb6\u65cf\u3068\u63a5\u3057\u3066\u611f\u3058\u308b\u306e\u306f\u3001\u660e\u308b\u304f\u4eba\u61d0\u3063\u3053\u304f\u3001\u97f3\u697d\u3084\u4eba\u3068\u306e\u95a2\u308f\u308a\u3092\u697d\u3057\u3080\u304a\u5b50\u3055\u3093\u304c\u591a\u3044\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002\u77e5\u7684\u306a\u767a\u9054\u306e\u9045\u308c\u3084\u591a\u52d5\u3068\u3044\u3063\u305f\u8ab2\u984c\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u65e9\u671f\u304b\u3089\u7642\u80b2\u3092\u59cb\u3081\u308b\u3053\u3068\u3067\u3001\u305d\u306e\u5b50\u306e\u53ef\u80fd\u6027\u306f\u5927\u304d\u304f\u5e83\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8eab\u4f53\u7684\u306a\u5408\u4f75\u75c7\u3082\u3001\u73fe\u4ee3\u306e\u533b\u7642\u3067\u9069\u5207\u306b\u7ba1\u7406\u30fb\u6cbb\u7642\u304c\u53ef\u80fd\u3067\u3059\u3002\u67d3\u8272\u4f53\u3068\u3044\u3046\u8a2d\u8a08\u56f3\u306e\u4e00\u90e8\u304c\u6b20\u3051\u3066\u3082\u3001\u305d\u306e\u5b50\u3089\u3057\u3055\u3068\u3044\u3046\u5f69\u308a\u306f\u5931\u308f\u308c\u307e\u305b\u3093\u3002\u5c0f\u5150\u79d1\u533b\u30fb\u7642\u6cd5\u58eb\u30fb\u5fc3\u7406\u58eb\u30fb\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\u9577\u304f\u6e29\u304b\u304f\u6210\u9577\u3092\u652f\u3048\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002\u307b\u304b\u306e\u67d3\u8272\u4f53\u75be\u60a3\u306b\u3064\u3044\u3066\u77e5\u308a\u305f\u3044\u65b9\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/turner-syndrome\/\">\u30bf\u30fc\u30ca\u30fc\u75c7\u5019\u7fa4<\/a>\u306e\u89e3\u8aac\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button has-custom-width wp-block-button__width-75\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u30fb\u51fa\u751f\u524d\u691c\u67fb\u3092\u898b\u308b<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Cerruti Mainardi P. <em>Cri du Chat syndrome.<\/em> Orphanet Journal of Rare Diseases. 2006.\uff08\u30af\u30ea\u30fb\u30c7\u30e5\u30fb\u30c1\u30e3\u30c3\u30c8\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u30fb\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u30fb\u7ba1\u7406\u6307\u91dd\u3092\u5305\u62ec\u7684\u306b\u307e\u3068\u3081\u305f\u30ec\u30d3\u30e5\u30fc\u8ad6\u6587\u3002<a href=\"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/1750-1172-1-33\" target=\"_blank\" rel=\"noopener\">\u5168\u6587\u306f\u3053\u3061\u3089<\/a>\uff09<\/li>\n\n\n\n<li>MedlinePlus Genetics. <em>Cri-du-chat syndrome.<\/em> U.S. National Library of Medicine.\uff08\u539f\u56e0\u30fb\u983b\u5ea6\u30fb\u75c7\u72b6\u30fb\u907a\u4f1d\u5f62\u5f0f\u3092\u516c\u7684\u6a5f\u95a2\u304c\u307e\u3068\u3081\u305f\u89e3\u8aac\u3002<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/cri-du-chat-syndrome\/\" target=\"_blank\" rel=\"noopener\">\u30da\u30fc\u30b8\u306f\u3053\u3061\u3089<\/a>\uff09<\/li>\n\n\n\n<li>National Organization for Rare Disorders (NORD). <em>Cri du Chat Syndrome.<\/em>\uff08\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u6cbb\u7642\u3092\u60a3\u8005\u56e3\u4f53\u304c\u307e\u3068\u3081\u305f\u89e3\u8aac\u3002<a href=\"https:\/\/rarediseases.org\/rare-diseases\/cri-du-chat-syndrome\/\" target=\"_blank\" rel=\"noopener\">\u30da\u30fc\u30b8\u306f\u3053\u3061\u3089<\/a>\uff09<\/li>\n\n\n\n<li>Lejeune J, et al. <em>Trois cas de d\u00e9l\u00e9tion partielle du bras court d&#8217;un chromosome 5.<\/em> 1963.\uff08\u4e16\u754c\u3067\u521d\u3081\u3066\u672c\u75c7\u5019\u7fa4\u3092\u5831\u544a\u3057\u3001\u30d2\u30c8\u306e\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\uff09<\/li>\n\n\n\n<li>GeneReviews\u00ae [Internet]. <em>5p Deletion (Cri du Chat Syndrome).<\/em>\uff08\u8a3a\u65ad\u57fa\u6e96\u30fb\u7ba1\u7406\u6307\u91dd\u30fb\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u60c5\u5831\u3092\u7db2\u7f85\u3057\u305f\u3001\u81e8\u5e8a\u3067\u4fe1\u983c\u3055\u308c\u308b\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n\n\n\n<script 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