{"id":17209,"date":"2026-01-21T08:36:35","date_gmt":"2026-01-21T08:36:35","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17209"},"modified":"2026-01-21T08:37:18","modified_gmt":"2026-01-21T08:37:18","slug":"9q22-3-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/9q22-3-deletion-syndrome\/","title":{"rendered":"9q22.3 deletion 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>9q22.3\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>9q22.3\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff089q22.3 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>9q22.3\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 9q22.3\uff09<\/li>\n\n\n\n<li><strong>\u30b4\u30fc\u30ea\u30f3\u75c7\u5019\u7fa4\uff08Gorlin syndrome\uff09 \/ \u6bcd\u6591\u57fa\u5e95\u7d30\u80de\u764c\u75c7\u5019\u7fa4\uff08NBCCS\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b<strong>\u3010\u91cd\u8981\u3011<\/strong> \u672c\u75c7\u5019\u7fa4\u306e\u6700\u3082\u4e2d\u6838\u7684\u306a\u75c7\u72b6\u306f\u3001\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308b<em>PTCH1<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u305f\u3081\u3001\u81e8\u5e8a\u7684\u306b\u306f\u300c\u30b4\u30fc\u30ea\u30f3\u75c7\u5019\u7fa4\u300d\u306e\u8a3a\u65ad\u57fa\u6e96\u3092\u6e80\u305f\u3059\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u5358\u306a\u308b\u907a\u4f1d\u5b50\u5909\u7570\u3067\u306f\u306a\u304f\u300c\u6b20\u5931\u300d\u3067\u3042\u308b\u305f\u3081\u3001\u77e5\u7684\u969c\u5bb3\u306a\u3069\u3092\u5408\u4f75\u3059\u308b\u91cd\u75c7\u578b\uff08\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff09\u3068\u3057\u3066\u4f4d\u7f6e\u3065\u3051\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>9q22.32\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>9\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0922.3\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e9\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u4e2d\u9593\u4ed8\u8fd1\u306b\u3042\u308b\u300c22.3\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\uff08\u4e3b\u306b9q22.32\u3092\u542b\u3080\u7d04352kb\u301c20.5Mb\u306e\u7bc4\u56f2\uff09\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\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>9q22.3\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001**\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff08Contiguous gene syndrome\uff09\u300d**\u306e\u5178\u578b\u4f8b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3064\u307e\u308a\u3001\u4e00\u3064\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3060\u3051\u3067\u306a\u304f\u3001\u305d\u306e\u5468\u308a\u306e\u907a\u4f1d\u5b50\u3082\u307e\u3068\u3081\u3066\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u3001\u8907\u6570\u306e\u75c7\u72b6\u304c\u7d44\u307f\u5408\u308f\u3055\u3063\u3066\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\uff08\u8cac\u4efb\u907a\u4f1d\u5b50\uff09\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>PTCH1 (Patched 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u91cd\u8981\u306e\u8cac\u4efb\u907a\u4f1d\u5b50<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f79\u5272:<\/strong> \u300c\u30bd\u30cb\u30c3\u30af\u30fb\u30d8\u30c3\u30b8\u30db\u30c3\u30b0\uff08SHH\uff09\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u300d\u3092\u5236\u5fa1\u3059\u308b\u53d7\u5bb9\u4f53\u3067\u3059\u3002\u3053\u306e\u7d4c\u8def\u306f\u3001\u80ce\u5150\u671f\u306e\u4f53\u306e\u5f62\u6210\u3084\u3001\u7d30\u80de\u306e\u5897\u6b96\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u30d6\u30ec\u30fc\u30ad\u5f79\u3068\u3057\u3066\u50cd\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong> \u30d6\u30ec\u30fc\u30ad\u304c\u534a\u5206\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u306a\u3063\u3066\u52b9\u304b\u306a\u304f\u306a\u308b\u305f\u3081\u3001\u7d30\u80de\u5897\u6b96\u304c\u904e\u5270\u306b\u306a\u308a\u3001<strong>\u300c\u57fa\u5e95\u7d30\u80de\u764c\uff08\u76ae\u819a\u304c\u3093\uff09\u300d\u3084\u300c\u984e\u9aa8\u56a2\u80de\u300d<\/strong>\u3001**\u300c\u5927\u982d\u75c7\u300d**\u306a\u3069\u306e\u30b4\u30fc\u30ea\u30f3\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>FANCC (Fanconi Anemia Complementation Group C):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> DNA\u306e\u4fee\u5fa9\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong> \u901a\u5e38\u306f\u4e21\u65b9\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u640d\u3059\u308b\u3068\u30d5\u30a1\u30f3\u30b3\u30cb\u8ca7\u8840\u306b\u306a\u308a\u307e\u3059\u304c\u3001\u7247\u65b9\u306e\u6b20\u5931\u3067\u3082\u767a\u304c\u3093\u30ea\u30b9\u30af\u3084\u7d30\u80de\u306e\u8106\u5f31\u6027\u306b\u95a2\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ROR2:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> \u9aa8\u683c\u5f62\u6210\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong> \u30ed\u30d3\u30ce\u30a6\u75c7\u5019\u7fa4\uff08Robinow syndrome\uff09\u69d8\u306e\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3084\u9aa8\u683c\u7570\u5e38\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u7a00\uff08Rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u30b4\u30fc\u30ea\u30f3\u75c7\u5019\u7fa4\uff08\u907a\u4f1d\u5b50\u5909\u7570\u578b\u542b\u3080\u5168\u4f53\uff09\u306e\u983b\u5ea6\u306f\u3001\u51fa\u751f\u7ea630,000\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u305d\u306e\u3046\u3061\u300c9q22.3\u5fae\u7d30\u6b20\u5931\u300d\u304c\u539f\u56e0\u3067\u3042\u308b\u5272\u5408\u306f\u4f4e\u3044\u305f\u3081\u3001\u672c\u75c7\u5019\u7fa4\u81ea\u4f53\u306f\u975e\u5e38\u306b\u5e0c\u5c11\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6027\u5225\u306b\u3088\u308b\u767a\u751f\u983b\u5ea6\u306e\u5dee\u306f\u306a\u304f\u3001\u7537\u5150\u306b\u3082\u5973\u5150\u306b\u3082\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\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>9q22.3 deletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u30b4\u30fc\u30ea\u30f3\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\uff08\u816b\u760d\u30fb\u9aa8\u683c\u7570\u5e38\uff09\u300d\u306b\u52a0\u3048\u3066\u3001\u6b20\u5931\u7279\u6709\u306e\u300c\u77e5\u7684\u969c\u5bb3\u30fb\u767a\u9054\u9045\u6ede\u300d\u3084\u300c\u904e\u6210\u9577\u300d**\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u306f\u5e74\u9f62\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u3001\u7279\u306b\u601d\u6625\u671f\u4ee5\u964d\u306b\u76ae\u819a\u3084\u984e\u306e\u75c7\u72b6\u304c\u9855\u8457\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u30b4\u30fc\u30ea\u30f3\u75c7\u5019\u7fa4\u3068\u5171\u901a\u306e\u75c7\u72b6\uff08PTCH1\u6b20\u5931\u306b\u3088\u308b\uff09<\/strong><\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306f\u3001<em>PTCH1<\/em>\u907a\u4f1d\u5b50\u5909\u7570\u5358\u72ec\u306e\u5834\u5408\u3067\u3082\u898b\u3089\u308c\u308b\u75c7\u72b6\u3067\u3059\u304c\u3001\u672c\u75c7\u5019\u7fa4\u3067\u3082\u4e2d\u6838\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u57fa\u5e95\u7d30\u80de\u764c\uff08Basal Cell Carcinoma; BCC\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u76ae\u819a\u304c\u3093\u306e\u4e00\u7a2e\u3067\u3059\u3002\u901a\u5e38\u306f\u9ad8\u9f62\u8005\u306b\u591a\u3044\u3067\u3059\u304c\u3001\u672c\u75c7\u5019\u7fa4\u3067\u306f20\u4ee3\u301c30\u4ee3\uff08\u65e9\u3051\u308c\u3070\u5c0f\u5150\u671f\uff09\u304b\u3089\u3001\u9854\u3084\u9996\u306a\u3069\u306e\u65e5\u5149\u304c\u5f53\u305f\u308b\u5834\u6240\u306b\u591a\u767a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8272\u7d20\u6591\uff08\u307b\u304f\u308d\u306e\u3088\u3046\u306a\u3082\u306e\uff09\u3068\u3057\u3066\u73fe\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u984e\u9aa8\u56a2\u80de\uff08Keratocystic Odontogenic Tumor; KCOT\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e0a\u3042\u3054\u3084\u4e0b\u3042\u3054\u306e\u9aa8\u306e\u4e2d\u306b\u3067\u304d\u308b\u888b\u72b6\u306e\u75c5\u5909\uff08\u816b\u760d\uff09\u3067\u3059\u3002<\/li>\n\n\n\n<li>10\u4ee3\u301c20\u4ee3\u3067\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u7121\u75c7\u72b6\u306e\u307e\u307e\u30ec\u30f3\u30c8\u30b2\u30f3\u3067\u767a\u898b\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308c\u3070\u3001\u816b\u308c\u3084\u75db\u307f\u3067\u6c17\u3065\u304f\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u518d\u767a\u3057\u3084\u3059\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5927\u982d\u75c7\uff08Macrocephaly\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u982d\u56f2\u304c\u5927\u304d\u304f\u3001\u304a\u3067\u3053\u304c\u7a81\u51fa\u3057\u3066\u3044\u308b\uff08Frontal bossing\uff09\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5927\u8133\u938c\u306e\u77f3\u7070\u5316:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u5de6\u53f3\u3092\u5206\u3051\u308b\u819c\uff08\u5927\u8133\u938c\uff09\u306b\u30ab\u30eb\u30b7\u30a6\u30e0\u304c\u6c88\u7740\u3057\u3066\u767d\u304f\u5199\u308a\u307e\u3059\u3002CT\u691c\u67fb\u3067\u898b\u3064\u304b\u308b\u7279\u5fb4\u7684\u306a\u6240\u898b\u3067\u3001\u5065\u5eb7\u4e0a\u306e\u5bb3\u306f\u901a\u5e38\u3042\u308a\u307e\u305b\u3093\u304c\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9aa8\u683c\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u808b\u9aa8\u306e\u7652\u5408\u3084\u5206\u53c9\uff08\u4e8c\u80a1\u306b\u5206\u304b\u308c\u308b\uff09\u3001\u810a\u67f1\u5074\u5f2f\u75c7\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u624b\u638c\u30fb\u8db3\u5e95\u306e\u5c0f\u7aa9\uff08Pits\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u306e\u3072\u3089\u3084\u8db3\u306e\u88cf\u306b\u3001\u5c0f\u3055\u306a\u7aaa\u307f\uff081\u301c2mm\u7a0b\u5ea6\uff09\u304c\u30dd\u30c4\u30dd\u30c4\u3068\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6b20\u5931\u75c7\u5019\u7fa4\u306b\u7279\u6709\u30fb\u9855\u8457\u306a\u75c7\u72b6\uff08\u96a3\u63a5\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\uff09<\/strong><\/p>\n\n\n\n<p>\u5358\u306a\u308b\u30b4\u30fc\u30ea\u30f3\u75c7\u5019\u7fa4\uff08\u70b9\u5909\u7570\uff09\u3067\u306f\u3042\u307e\u308a\u898b\u3089\u308c\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u8efd\u5ea6\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u75c7\u72b6\u304c\u3001\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u306f\u9855\u8457\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09 \/ \u767a\u9054\u9045\u6ede\uff08DD\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u3082\u91cd\u8981\u306a\u9451\u5225\u70b9<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u901a\u5e38\u306e\u30b4\u30fc\u30ea\u30f3\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u3055\u3093\u306f\u77e5\u80fd\u6b63\u5e38\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u30019q22.3\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u306f\u3001\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306b<strong>\u8efd\u5ea6\u301c\u91cd\u5ea6<\/strong>\u306e\u77e5\u7684\u969c\u5bb3\u3084\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u304c\u51fa\u308b\u306e\u304c\u9045\u3044\u3001\u6b69\u304d\u59cb\u3081\u304c\u9045\u3044\u306a\u3069\u306e\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u904e\u6210\u9577\uff08Overgrowth\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u80ce\u5150\u671f\u3084\u4e73\u5e7c\u5150\u671f\u306b\u3001\u8eab\u9577\u3084\u4f53\u91cd\u304c\u5e73\u5747\u3088\u308a\u3082\u5927\u304d\u304f\u306a\u308b\uff08\u904e\u6210\u9577\uff09\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b\u8eab\u9577\u304c\u9ad8\u304f\u306a\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u306a\u3069\u306e\u904e\u6210\u9577\u75c7\u5019\u7fa4\u3068\u9593\u9055\u308f\u308c\u308b\u3053\u3068\u304c\u3042\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>\u30b4\u30fc\u30ea\u30f3\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\uff08\u5e83\u3044\u984d\u3001\u96e2\u308c\u305f\u76ee\uff09\u306b\u52a0\u3048\u3001**\u4e09\u89d2\u982d\u84cb\uff08\u304a\u3067\u3053\u304c\u5c16\u308b\uff09**\u3084\u3001\u5e73\u5766\u306a\u9854\u7acb\u3061\u3001\u5c0f\u984e\u75c7\u306a\u3069\u304c\u3088\u308a\u306f\u3063\u304d\u308a\u3068\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6c34\u982d\u75c7:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u5ba4\u304c\u62e1\u5927\u3057\u3001\u30b7\u30e3\u30f3\u30c8\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u305d\u306e\u4ed6\u306e\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\u306a\u3069\u306e\u5148\u5929\u6027\u5fc3\u75be\u60a3\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1:<\/strong> \u659c\u8996\u3001\u5c0f\u773c\u7403\u75c7\u3001\u30b3\u30ed\u30dc\u30fc\u30de\uff08\u7a00\uff09\u3002<\/li>\n\n\n\n<li><strong>\u6ccc\u5c3f\u751f\u6b96\u5668:<\/strong> \u505c\u7559\u7cbe\u5de3\u3001\u814e\u5947\u5f62\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><strong>9\u756a\u67d3\u8272\u4f53\u9577\u8155\uff089q22.3\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>9q22.3\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u591a\u304f\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\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\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306e\u5e74\u9f62\u3084\u598a\u5a20\u4e2d\u306e\u74b0\u5883\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08Inherited\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u306a\u3069\u306e\u69cb\u9020\u7570\u5e38\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3084\u3001\u89aa\u81ea\u8eab\u30829q22.3\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u308b\uff08\u75c7\u72b6\u304c\u8efd\u304f\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\uff09\u5834\u5408\u306b\u907a\u4f1d\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><em>PTCH1<\/em>\u907a\u4f1d\u5b50\u306f<strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d<\/strong>\u306e\u5f62\u5f0f\u3092\u3068\u308b\u305f\u3081\u3001\u89aa\u304c\u60a3\u8005\u3067\u3042\u308b\u5834\u5408\u3001\u5b50\u306b\u907a\u4f1d\u3059\u308b\u78ba\u7387\u306f50%\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u30cf\u30d7\u30ed\u4e0d\u5168\u3068\u300c2\u30d2\u30c3\u30c8\u8aac\u300d<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30cf\u30d7\u30ed\u4e0d\u5168:<\/strong> \u751f\u307e\u308c\u3064\u304d<em>PTCH1<\/em>\u907a\u4f1d\u5b50\u304c1\u672c\u3057\u304b\u306a\u3044\u305f\u3081\u3001\u30d6\u30ec\u30fc\u30ad\u5f79\u3068\u3057\u3066\u306e\u6a5f\u80fd\u304c\u6700\u521d\u304b\u3089\u5f31\u304f\u3001\u904e\u6210\u9577\u3084\u5947\u5f62\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>2\u30d2\u30c3\u30c8\u8aac\uff08\u304c\u3093\u306e\u767a\u75c7\uff09:<\/strong> \u751f\u307e\u308c\u3064\u304d1\u672c\u3057\u304b\u306a\u3044\u907a\u4f1d\u5b50\u306b\u3001\u7d2b\u5916\u7dda\u3084\u653e\u5c04\u7dda\u306a\u3069\u306e\u30c0\u30e1\u30fc\u30b8\u3067\u3082\u30461\u672c\u306e\u907a\u4f1d\u5b50\u3082\u50b7\u3064\u3044\u3066\u3057\u307e\u3046\uff082\u56de\u76ee\u306e\u30d2\u30c3\u30c8\uff09\u3068\u3001\u305d\u306e\u7d30\u80de\u3067\u30d6\u30ec\u30fc\u30ad\u304c\u5b8c\u5168\u306b\u58ca\u308c\u3001\u304c\u3093\uff08\u57fa\u5e95\u7d30\u80de\u764c\u306a\u3069\uff09\u304c\u767a\u751f\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u3055\u3093\u304c\u82e5\u304f\u3057\u3066\u591a\u767a\u6027\u306e\u304c\u3093\u3092\u767a\u75c7\u3057\u3084\u3059\u3044\u7406\u7531\u3067\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>\u300c\u5927\u982d\u75c7\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u306b\u52a0\u3048\u3001\u5bb6\u65cf\u6b74\u3084\u753b\u50cf\u6240\u898b\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\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>\u672c\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b**\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff08\u7b2c\u4e00\u9078\u629e\uff09**\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>9q22.3\u9818\u57df\u306e\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\uff08bp\u5358\u4f4d\uff09\u3068\u3001<em>PTCH1<\/em>\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5358\u306a\u308b\u30b4\u30fc\u30ea\u30f3\u75c7\u5019\u7fa4\uff08\u70b9\u5909\u7570\uff09\u306a\u306e\u304b\u3001\u6b20\u5931\u75c7\u5019\u7fa4\u306a\u306e\u304b\u3092\u533a\u5225\u3059\u308b\u305f\u3081\u306b\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad\u57fa\u6e96\uff08\u30b4\u30fc\u30ea\u30f3\u75c7\u5019\u7fa4\u3068\u3057\u3066\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4ee5\u4e0b\u306e\u5927\u57fa\u6e96\u30fb\u5c0f\u57fa\u6e96\u306e\u7d44\u307f\u5408\u308f\u305b\u3067\u81e8\u5e8a\u7684\u306b\u8a3a\u65ad\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5927\u57fa\u6e96:<\/strong> \u82e5\u5e74\u6027\u306e\u57fa\u5e95\u7d30\u80de\u764c\u3001\u984e\u9aa8\u56a2\u80de\u3001\u624b\u8db3\u306e\u5c0f\u7aa9\u3001\u5927\u8133\u938c\u306e\u77f3\u7070\u5316\u3001\u808b\u9aa8\u7570\u5e38\u3001\u7b2c1\u5ea6\u8fd1\u89aa\u8005\u306e\u7f79\u60a3\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u57fa\u6e96:<\/strong> \u5927\u982d\u75c7\u3001\u53e3\u5507\u53e3\u84cb\u88c2\u3001\u9aa8\u683c\u7570\u5e38\u306a\u3069\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u90e8CT:<\/strong> \u5927\u8133\u938c\u306e\u77f3\u7070\u5316\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30d1\u30ce\u30e9\u30de\u30ec\u30f3\u30c8\u30b2\u30f3\uff08\u6b6f\u79d1\uff09:<\/strong> \u984e\u9aa8\u56a2\u80de\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u810a\u690e\u30fb\u808b\u9aa8\u30ec\u30f3\u30c8\u30b2\u30f3:<\/strong> \u9aa8\u683c\u7570\u5e38\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>\u6b20\u5931\u3057\u305f\u67d3\u8272\u4f53\u3092\u4fee\u5fa9\u3059\u308b\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u767a\u751f\u3059\u308b\u816b\u760d\u3084\u5408\u4f75\u75c7\u306b\u5bfe\u3059\u308b\u65e9\u671f\u767a\u898b\u30fb\u65e9\u671f\u6cbb\u7642\uff08\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff09\u3068\u3001\u767a\u9054\u3092\u4fc3\u3059\u7642\u80b2\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u816b\u760d\u30fb\u56a2\u80de\u306e\u7ba1\u7406\uff08\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\uff09<\/strong><\/p>\n\n\n\n<p><strong>\u751f\u6daf\u306b\u308f\u305f\u308b\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u304c\u6700\u3082\u91cd\u8981\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u76ae\u819a\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u7d2b\u5916\u7dda\u5bfe\u7b56\uff08\u906e\u5149\uff09:<\/strong> \u65e5\u713c\u3051\u6b62\u3081\u3001\u5e3d\u5b50\u3001\u9577\u8896\u306a\u3069\u3067\u7d2b\u5916\u7dda\u3092\u907f\u3051\u308b\u3053\u3068\u304c\u3001\u57fa\u5e95\u7d30\u80de\u764c\u306e\u4e88\u9632\u306b\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5b9a\u671f\u7684\u306b\u5168\u8eab\u306e\u76ae\u819a\u3092\u30c1\u30a7\u30c3\u30af\u3057\u3001\u602a\u3057\u3044\u307b\u304f\u308d\u3084\u30c7\u30ad\u30e2\u30ce\u304c\u3042\u308c\u3070\u65e9\u671f\u306b\u5207\u9664\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u653e\u5c04\u7dda\u6cbb\u7642\u306e\u56de\u907f:<\/strong> \u653e\u5c04\u7dda\u306f\u300c2\u56de\u76ee\u306e\u30d2\u30c3\u30c8\u300d\u3092\u8a98\u767a\u3057\u3001\u65b0\u305f\u306a\u816b\u760d\u3092\u4f5c\u308b\u539f\u56e0\u306b\u306a\u308b\u305f\u3081\u3001\u691c\u67fb\uff08CT\u306a\u3069\uff09\u3084\u6cbb\u7642\u3067\u306e\u653e\u5c04\u7dda\u88ab\u66dd\u306f\u53ef\u80fd\u306a\u9650\u308a\u907f\u3051\u308b\uff08MRI\u3084\u30a8\u30b3\u30fc\u3067\u4ee3\u7528\u3059\u308b\uff09\u3053\u3068\u304c\u539f\u5247\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u30fb\u53e3\u8154\u5916\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>10\u6b73\u9803\u304b\u3089\u5b9a\u671f\u7684\u306b\u30d1\u30ce\u30e9\u30de\u30ec\u30f3\u30c8\u30b2\u30f3\u3092\u64ae\u308a\u3001\u984e\u9aa8\u56a2\u80de\u304c\u306a\u3044\u304b\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u56a2\u80de\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u3001\u6458\u51fa\u8853\u3092\u884c\u3044\u307e\u3059\u304c\u3001\u518d\u767a\u3057\u3084\u3059\u3044\u305f\u3081\u9577\u671f\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5c0f\u5150\u304c\u3093\uff08\u9ac4\u82bd\u816b\u306a\u3069\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5e7c\u5150\u671f\u306b\u8133\u816b\u760d\uff08\u9ac4\u82bd\u816b\uff09\u306e\u30ea\u30b9\u30af\u304c\u308f\u305a\u304b\u306b\u9ad8\u3044\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf\u3084MRI\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u5f8c\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6559\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u5408\u308f\u305b\u3066\u3001\u7279\u5225\u652f\u63f4\u5b66\u6821\u3084\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u306e\u6559\u80b2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8996\u899a\u512a\u4f4d\uff08\u898b\u3066\u899a\u3048\u308b\u306e\u304c\u5f97\u610f\uff09\u306a\u5834\u5408\u304c\u591a\u3044\u305f\u3081\u3001\u8996\u899a\u7684\u306a\u652f\u63f4\u3092\u53d6\u308a\u5165\u308c\u305f\u5b66\u7fd2\u304c\u6709\u52b9\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u305d\u306e\u4ed6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6c34\u982d\u75c7:<\/strong> \u8133\u5727\u4ea2\u9032\u75c7\u72b6\u304c\u3042\u308b\u5834\u5408\u3001\u30b7\u30e3\u30f3\u30c8\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u5fc5\u8981\u306b\u5fdc\u3058\u3066\u624b\u8853\u3084\u6295\u85ac\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1:<\/strong> \u659c\u8996\u3084\u8996\u529b\u306e\u7ba1\u7406\u3092\u884c\u3044\u307e\u3059\u3002<\/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>\u300c\u304c\u3093\u304c\u3067\u304d\u3084\u3059\u3044\u300d\u3068\u3044\u3046\u60c5\u5831\u306f\u3054\u5bb6\u65cf\u306b\u5927\u304d\u306a\u4e0d\u5b89\u3092\u4e0e\u3048\u307e\u3059\u304c\u3001\u300c\u65e9\u671f\u767a\u898b\u3059\u308c\u3070\u6cbb\u308b\u304c\u3093\uff08\u57fa\u5e95\u7d30\u80de\u764c\uff09\u3067\u3042\u308b\u3053\u3068\u300d\u300c\u5bfe\u7b56\uff08\u906e\u5149\uff09\u304c\u3042\u308b\u3053\u3068\u300d\u3092\u4f1d\u3048\u3001\u524d\u5411\u304d\u306a\u7ba1\u7406\u8a08\u753b\u3092\u7acb\u3066\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u3078\u306e\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u306e\u691c\u67fb\u3092\u884c\u3044\u3001\u6b21\u5b50\u30ea\u30b9\u30af\u3084\u3001\u89aa\u81ea\u8eab\u304c\u672a\u8a3a\u65ad\u306e\u60a3\u8005\u3067\u3042\u3063\u305f\u5834\u5408\u306e\u5065\u5eb7\u7ba1\u7406\u306b\u3064\u3044\u3066\u76f8\u8ac7\u306b\u4e57\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>9q22.3 deletion syndrome\u306f\u30019\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u533b\u5b66\u7684\u306b\u306f\u300c\u30b4\u30fc\u30ea\u30f3\u75c7\u5019\u7fa4\u300d\u3068\u547c\u3070\u308c\u308b\u4f53\u8cea\u3068\u6df1\u304f\u95a2\u9023\u3057\u3066\u304a\u308a\u3001\u76ae\u819a\u304c\u3093\u304c\u3067\u304d\u3084\u3059\u304b\u3063\u305f\u308a\u3001\u984e\u306e\u9aa8\u306b\u888b\uff08\u56a2\u80de\uff09\u304c\u3067\u304d\u3084\u3059\u304b\u3063\u305f\u308a\u3059\u308b\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306b\u52a0\u3048\u3066\u30019q22.3\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u3055\u3093\u306f\u3001\u4f53\u304c\u5927\u304d\u3081\uff08\u904e\u6210\u9577\uff09\u3067\u3001\u8a00\u8449\u3084\u904b\u52d5\u306e\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u3068\u3044\u3046\u7279\u5fb4\u3092\u4f75\u305b\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u304c\u3093\u300d\u3068\u3044\u3046\u8a00\u8449\u3092\u805e\u304f\u3068\u3001\u3054\u5bb6\u65cf\u306f\u5927\u5909\u30b7\u30e7\u30c3\u30af\u3092\u53d7\u3051\u3089\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u306e\u75be\u60a3\u3067\u3067\u304d\u3084\u3059\u3044\u76ae\u819a\u304c\u3093\uff08\u57fa\u5e95\u7d30\u80de\u764c\uff09\u306f\u3001\u8ee2\u79fb\u3059\u308b\u3053\u3068\u306f\u7a00\u3067\u3001\u65e9\u671f\u306b\u898b\u3064\u3051\u3066\u53d6\u308c\u3070\u6cbb\u308b\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6700\u3082\u5927\u5207\u306a\u306e\u306f\u3001**\u300c\u5fb9\u5e95\u7684\u306a\u7d2b\u5916\u7dda\u5bfe\u7b56\u300d\u3068\u300c\u5b9a\u671f\u691c\u8a3a\u300d**\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u3055\u3044\u9803\u304b\u3089\u65e5\u713c\u3051\u6b62\u3081\u3092\u5857\u308a\u3001\u5e3d\u5b50\u3092\u304b\u3076\u308b\u7fd2\u6163\u3092\u3064\u3051\u308b\u3053\u3068\u3067\u3001\u5c06\u6765\u306e\u30ea\u30b9\u30af\u3092\u6e1b\u3089\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u307e\u305f\u3001\u30ec\u30f3\u30c8\u30b2\u30f3\u691c\u67fb\u306a\u3069\u3092\u4e0d\u5fc5\u8981\u306b\u53d7\u3051\u306a\u3044\u3088\u3046\u306b\u6c17\u3092\u3064\u3051\u308b\u3053\u3068\u3082\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u306b\u3064\u3044\u3066\u306f\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3067\u3059\u304c\u3001\u7642\u80b2\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3086\u3063\u304f\u308a\u3068\u7740\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4eba\u61d0\u3063\u3053\u304f\u3001\u660e\u308b\u3044\u6027\u683c\u306e\u304a\u5b50\u3055\u3093\u3082\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u76ae\u819a\u79d1\u3001\u6b6f\u79d1\u53e3\u8154\u5916\u79d1\u3001\u5c0f\u5150\u79d1\u3001\u305d\u3057\u3066\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u3092\u7fd2\u6163\u306b\u3057\u306a\u304c\u3089\u3001\u304a\u5b50\u3055\u3093\u306e\u5065\u3084\u304b\u306a\u6210\u9577\u3092\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>Muller, E., et al.<\/strong> (2012). <em>9q22.3 microdeletion encompassing the PTCH1 gene: Clinical and molecular characterization of two patients and update of the literature.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bPTCH1\u3092\u542b\u30809q22.3\u5fae\u7d30\u6b20\u5931\u3092\u6301\u3064\u60a3\u8005\u306e\u75c7\u4f8b\u5831\u544a\u3068\u6587\u732e\u30ec\u30d3\u30e5\u30fc\u3002\u5178\u578b\u7684\u306a\u30b4\u30fc\u30ea\u30f3\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u306b\u52a0\u3048\u3001\u77e5\u7684\u969c\u5bb3\u3084\u904e\u6210\u9577\u3068\u3044\u3063\u305f\u6b20\u5931\u7279\u6709\u306e\u75c7\u72b6\u306b\u3064\u3044\u3066\u8a73\u8ff0\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Redon, R., et al.<\/strong> (2005). <em>Microdeletion 9q22.3 involving the PTCH1 gene causes a contiguous gene syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b9q22.3\u6b20\u5931\u304c\u5358\u306a\u308bPTCH1\u5909\u7570\u3068\u306f\u7570\u306a\u308b\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d\u3067\u3042\u308b\u3053\u3068\u3092\u63d0\u5531\u3057\u3001\u767a\u9054\u9045\u6ede\u306a\u3069\u306e\u4ed8\u52a0\u7684\u306a\u75c7\u72b6\u306e\u539f\u56e0\u306b\u3064\u3044\u3066\u907a\u4f1d\u5b66\u7684\u306b\u89e3\u6790\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Kimonis, V.E., et al.<\/strong> (1997). <em>Clinical manifestation in 105 persons with nevoid basal cell carcinoma syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u30b4\u30fc\u30ea\u30f3\u75c7\u5019\u7fa4\uff08NBCCS\uff09\u306e\u5927\u898f\u6a21\u306a\u81e8\u5e8a\u8abf\u67fb\u3002\u8a3a\u65ad\u57fa\u6e96\u306e\u78ba\u7acb\u3084\u3001\u5404\u75c7\u72b6\uff08\u57fa\u5e95\u7d30\u80de\u764c\u3001\u984e\u9aa8\u56a2\u80de\u306a\u3069\uff09\u306e\u983b\u5ea6\u30fb\u767a\u75c7\u5e74\u9f62\u306b\u95a2\u3059\u308b\u57fa\u790e\u30c7\u30fc\u30bf\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>9q deletions<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u7d2b\u5916\u7dda\u5bfe\u7b56\u306e\u91cd\u8981\u6027\u3001\u984e\u9aa8\u56a2\u80de\u306e\u30c1\u30a7\u30c3\u30af\u3001\u653e\u5c04\u7dda\u691c\u67fb\u3078\u306e\u6ce8\u610f\u70b9\u3001\u767a\u9054\u652f\u63f4\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>Nevoid Basal Cell Carcinoma Syndrome<\/em>. Initial Posting: 2002; Last Update: 2018. <em>Authors: Evans DG, et al.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u672c\u75c7\u5019\u7fa4\u306e\u4e2d\u6838\u3068\u306a\u308bNBCCS\u306e\u8a3a\u65ad\u57fa\u6e96\u3001\u6700\u65b0\u306e\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\u6307\u91dd\uff08\u76ae\u819a\u3001\u6b6f\u79d1\u3001\u5c0f\u5150\u304c\u3093\uff09\u3001\u907f\u3051\u308b\u3079\u304d\u85ac\u5264\u30fb\u653e\u5c04\u7dda\u306b\u95a2\u3059\u308b\u60c5\u5831\u3092\u7db2\u7f85\u3057\u305f\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Midro, A.T., et al.<\/strong> (2004). <em>Interstitial deletion 9q22.32-q33.2 associated with Gorlin-Goltz syndrome phenotype.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b9q22.3\u3092\u542b\u3080\u6b20\u5931\u3068\u30b4\u30fc\u30ea\u30f3\u75c7\u5019\u7fa4\u306e\u8868\u73fe\u578b\u306e\u95a2\u9023\u3092\u793a\u3057\u305f\u75c7\u4f8b\u5831\u544a\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-17209","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\/17209","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\/17209\/revisions"}],"predecessor-version":[{"id":17211,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17209\/revisions\/17211"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17209"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}