{"id":17432,"date":"2026-01-22T05:02:48","date_gmt":"2026-01-22T05:02:48","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17432"},"modified":"2026-01-22T05:03:14","modified_gmt":"2026-01-22T05:03:14","slug":"potocki-lupski-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/potocki-lupski-syndrome\/","title":{"rendered":"Potocki-Lupski syndrome"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>PTLS<\/strong><\/li>\n\n\n\n<li><strong>17p11.2\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4\uff0817p11.2 microduplication syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>17p11.2\u91cd\u8907\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>\u30b9\u30df\u30b9\u30fb\u30de\u30ae\u30cb\u30b9\u75c7\u5019\u7fa4\uff08SMS\uff09\u306e\u9006\u75c7\u5019\u7fa4<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u540c\u3058\u9818\u57df\u306e\u300c\u6b20\u5931\u300d\u304c\u30b9\u30df\u30b9\u30fb\u30de\u30ae\u30cb\u30b9\u75c7\u5019\u7fa4\u3067\u3042\u308a\u3001\u75c7\u72b6\u304c\u5bfe\u7167\u7684\u3067\u3042\u308b\u3053\u3068\u304b\u3089\u3053\u3046\u547c\u3070\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/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>17\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0911.2\u9818\u57df\u306e\u5fae\u5c0f\u91cd\u8907<\/strong><\/p>\n\n\n\n<p>PTLS\u306f\u300117\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306e\u300c11.2\u300d\u3068\u3044\u3046\u4f4d\u7f6e\u306b\u3042\u308b\u30b2\u30ce\u30e0\u9818\u57df\u304c\u3001\u901a\u5e382\u30b3\u30d4\u30fc\uff08\u7236\u7531\u6765\u30fb\u6bcd\u7531\u6765\uff09\u3067\u3042\u308b\u3068\u3053\u308d\u30013\u30b3\u30d4\u30fc\u5b58\u5728\u3059\u308b\u3053\u3068\uff08<strong>\u5fae\u5c0f<\/strong>\u91cd\u8907\uff09\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u6700\u91cd\u8981\u907a\u4f1d\u5b50\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8cac\u4efb\u9818\u57df:<\/strong> \u7d043.7Mb\uff08\u30e1\u30ac\u30d9\u30fc\u30b9\uff09\u306e\u5171\u901a\u91cd\u8907\u9818\u57df\u3002<\/li>\n\n\n\n<li><strong>\u4e3b\u8981\u306a\u8cac\u4efb\u907a\u4f1d\u5b50:<\/strong> <strong>RAI1 (Retinoic Acid Induced 1) \u907a\u4f1d\u5b50<\/strong><\/li>\n\n\n\n<li><strong>\u75c5\u614b\u30e1\u30ab\u30cb\u30ba\u30e0:<\/strong><em>RAI1<\/em>\u907a\u4f1d\u5b50\u306f\u3001\u8133\u306e\u767a\u9054\u3001\u7761\u7720\u30fb\u899a\u9192\u30ea\u30ba\u30e0\u3001\u8eab\u4f53\u306e\u6210\u9577\u306b\u95a2\u308f\u308b\u591a\u304f\u306e\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u8abf\u7bc0\u3059\u308b\u8ee2\u5199\u56e0\u5b50\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\n<ul class=\"wp-block-list\">\n<li>\u30b9\u30df\u30b9\u30fb\u30de\u30ae\u30cb\u30b9\u75c7\u5019\u7fa4\uff08\u6b20\u5931\uff09\u3067\u306f\u3001\u3053\u306e\u907a\u4f1d\u5b50\u304c\u8db3\u308a\u306a\u3044\u3053\u3068\u304c\u554f\u984c\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e00\u65b9\u3001\u30dd\u30c8\u30c4\u30ad\u30fb\u30eb\u30d7\u30b9\u30ad\u75c7\u5019\u7fa4\uff08\u91cd\u8907\uff09\u3067\u306f\u3001\u3053\u306e\u907a\u4f1d\u5b50\u304c\u300c\u591a\u3059\u304e\u308b\u300d\u3053\u3068\u3067\u3001\u7d30\u80de\u5185\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3001\u795e\u7d4c\u767a\u9054\u306e\u4e71\u308c\u3084\u8eab\u4f53\u7684\u7279\u5fb4\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u3092\u300c\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\u300d\u3068\u547c\u3073\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>\u7d0420,000\u4eba \u301c 25,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8a3a\u65ad\u306e\u73fe\u72b6:<\/strong> \u4ee5\u524d\u306f\u8a3a\u65ad\u304c\u975e\u5e38\u306b\u56f0\u96e3\u306a\u75be\u60a3\u3067\u3057\u305f\u304c\u3001\u9ad8\u89e3\u50cf\u5ea6\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff09\u304c\u6a19\u6e96\u5316\u3057\u305f\u3053\u3068\u306b\u3088\u308a\u3001\u8fd1\u5e74\u8a3a\u65ad\u3055\u308c\u308b\u75c7\u4f8b\u304c\u6025\u901f\u306b\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee:<\/strong> \u6027\u5225\u306b\u3088\u308b\u983b\u5ea6\u306e\u5dee\u306f\u306a\u304f\u3001\u7537\u5973\u3068\u3082\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a8d\u77e5\u5ea6:<\/strong> \u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u3084\u77e5\u7684\u969c\u5bb3\u306e\u539f\u56e0\u7cbe\u67fb\u3092\u884c\u3046\u904e\u7a0b\u3067\u767a\u898b\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u75be\u60a3\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>PTLS\u306e\u75c7\u72b6\u306f\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u304c\u3001\u7279\u306b\u300c\u4e73\u5150\u671f\u306e\u6804\u990a\u969c\u5bb3\u300d\u300c\u795e\u7d4c\u767a\u9054\u306e\u9045\u308c\u300d\u300c\u7761\u7720\u969c\u5bb3\u300d\u304c\u5927\u304d\u306a\u67f1\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u4e73\u5150\u671f\u306e\u6442\u98df\u969c\u5bb3\u3068\u6210\u9577<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u54fa\u4e73\u56f0\u96e3:<\/strong> \u751f\u307e\u308c\u305f\u76f4\u5f8c\u304b\u3089\u5438\u3046\u529b\u304c\u5f31\u304f\u3001\u30df\u30eb\u30af\u3092\u98f2\u3080\u306e\u306b\u975e\u5e38\u306b\u6642\u9593\u304c\u304b\u304b\u3063\u305f\u308a\u3001\u3080\u305b\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u8840\u5727\uff08\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff09:<\/strong> \u300c\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\u300d\u3068\u547c\u3070\u308c\u3001\u4f53\u304c\u975e\u5e38\u306b\u67d4\u3089\u304b\u3044\u72b6\u614b\u3067\u751f\u307e\u308c\u3066\u304f\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6210\u9577\u4e0d\u5168\uff08Failure to Thrive\uff09:<\/strong> \u6804\u990a\u6442\u53d6\u306e\u554f\u984c\u3084\u4ee3\u8b1d\u306e\u5f71\u97ff\u306b\u3088\u308a\u3001\u4f53\u91cd\u3084\u8eab\u9577\u306e\u5897\u52a0\u304c\u6a19\u6e96\u3092\u4e0b\u56de\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u767a\u9054\u3068\u77e5\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\u30fb\u767a\u9054\u9045\u6ede:<\/strong> \u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u8457\u3057\u3044\u9045\u308c:<\/strong> \u904b\u52d5\u767a\u9054\uff08\u6b69\u884c\u306a\u3069\uff09\u3088\u308a\u3082\u3001\u8a00\u8449\uff08\u7279\u306b\u767a\u8a71\uff09\u306e\u9045\u308c\u304c\u76ee\u7acb\u3064\u306e\u304cPTLS\u306e\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u7684\u7279\u6027:<\/strong> \u76f8\u4e92\u7684\u306a\u5bfe\u4eba\u95a2\u4fc2\u306e\u96e3\u3057\u3055\u3001\u3053\u3060\u308f\u308a\u3001\u53cd\u5fa9\u884c\u52d5\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u591a\u52d5\u30fb\u6ce8\u610f\u6b20\u9665:<\/strong> \u843d\u3061\u7740\u304d\u306e\u306a\u3055\u3084\u6ce8\u610f\u529b\u306e\u6563\u6f2b\u3055\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Facial Dysmorphism\uff09<\/strong><\/p>\n\n\n\n<p>\u30b9\u30df\u30b9\u30fb\u30de\u30ae\u30cb\u30b9\u75c7\u5019\u7fa4\uff08SMS\uff09\u306b\u6bd4\u3079\u308b\u3068\u5916\u898b\u7684\u306a\u7279\u5fb4\u306f\u63a7\u3048\u3081\u3067\u3059\u304c\u3001\u5171\u901a\u3057\u305f\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e09\u89d2\u5f62\u306e\u9854\u7acb\u3061:<\/strong> \u984e\u304c\u5c0f\u3055\u304f\u3001\u9854\u306e\u4e0b\u534a\u5206\u304c\u7d30\u3044\u3002<\/li>\n\n\n\n<li><strong>\u773c\u9593\u958b\u96e2:<\/strong> \u4e21\u76ee\u306e\u9593\u9694\u304c\u5c11\u3057\u96e2\u308c\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u9f3b:<\/strong> \u9f3b\u6839\u90e8\uff08\u9f3b\u306e\u4ed8\u3051\u6839\uff09\u304c\u5e73\u5766\u3067\u3042\u308b\u3002<\/li>\n\n\n\n<li><strong>\u53e3:<\/strong> \u4e0a\u5507\u304c\u8584\u304f\u3001\u53e3\u89d2\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u7761\u7720\u969c\u5bb3<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6982\u65e5\u30ea\u30ba\u30e0\u7761\u7720\u969c\u5bb3:<\/strong> \u30b9\u30df\u30b9\u30fb\u30de\u30ae\u30cb\u30b9\u75c7\u5019\u7fa4\u306f\u300c\u591c\u8d77\u304d\u3066\u663c\u5bdd\u308b\uff08\u30e1\u30e9\u30c8\u30cb\u30f3\u30ea\u30ba\u30e0\u306e\u9006\u8ee2\uff09\u300d\u304c\u6709\u540d\u3067\u3059\u304c\u3001PTLS\u3067\u306f\u305d\u3053\u307e\u3067\u5287\u7684\u306a\u9006\u8ee2\u306f\u306a\u3044\u3082\u306e\u306e\u3001\u4e2d\u9014\u899a\u9192\u3084\u5bdd\u4ed8\u304d\u306e\u60aa\u3055\u3001\u3042\u308b\u3044\u306f\u7761\u7720\u6642\u7121\u547c\u5438\u75c7\u5019\u7fa4\uff08SAS\uff09\u304c\u591a\u304f\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u8eab\u4f53\u7684\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3:<\/strong> \u7d0440\uff05\u306e\u75c7\u4f8b\u3067\u3001\u4e2d\u9694\u6b20\u640d\u306a\u3069\u306e\u5fc3\u5947\u5f62\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u7570\u5e38:<\/strong> \u814e\u81d3\u306e\u5f62\u3084\u4f4d\u7f6e\u306e\u7570\u5e38\u3002<\/li>\n\n\n\n<li><strong>\u810a\u690e\u306e\u7570\u5e38:<\/strong> \u5074\u5f2f\u75c7\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u8996\u899a\u30fb\u8074\u899a:<\/strong> \u659c\u8996\u3084\u3001\u4e00\u90e8\u3067\u8efd\u5ea6\u306e\u96e3\u8074\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>17p11.2\u9818\u57df\u306e\u5fae\u5c0f\u91cd\u8907\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u5f62\u5f0f\u306b\u76f8\u5f53\uff09<\/strong><\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08De novo duplication\uff09\uff1a\u7d0490%<br>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\uff08\u6e1b\u6570\u5206\u88c2\uff09\u3067\u3001\u5076\u7136\u306b17p11.2\u9818\u57df\u304c\u91cd\u8907\u3057\u305f\u72b6\u614b\u3067\u53d7\u7cbe\u3057\u305f\u3082\u306e\u3067\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u6b21\u306b\u751f\u307e\u308c\u308b\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u6975\u3081\u3066\u4f4e\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304b\u3089\u306e\u7d99\u627f\uff08Inherited duplication\uff09\uff1a\u7d0410%<br>\u89aa\u306e\u3069\u3061\u3089\u304b\u304cPTLS\u306e\u5fae\u5c0f\u91cd\u8907\u3092\u6301\u3063\u3066\u304a\u308a\u3001\u305d\u308c\u304c\u5b50\u4f9b\u306b\u53d7\u3051\u7d99\u304c\u308c\u305f\u30b1\u30fc\u30b9\u3067\u3059\u3002\u89aa\u304c\u975e\u5e38\u306b\u8efd\u75c7\u3067\u3001\u5b50\u4f9b\u304c\u8a3a\u65ad\u3055\u308c\u3066\u521d\u3081\u3066\u89aa\u3082\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u3068\u5224\u660e\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u5834\u5408\u300150%\u306e\u78ba\u7387\u3067\u907a\u4f1d\u3057\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u81e8\u5e8a\u75c7\u72b6\u304b\u3089PTLS\u3092\u7591\u3046\u3053\u3068\u306f\u5c02\u9580\u533b\u3067\u3082\u96e3\u3057\u3044\u5834\u5408\u304c\u3042\u308a\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<br>\u78ba\u5b9a\u8a3a\u65ad\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3067\u3059\u300217p11.2\u9818\u57df\u306e\u5fae\u5c0f\u91cd\u8907\u3092\u6570\u4e07\u500b\u306e\u30d7\u30ed\u30fc\u30d6\u3067\u78ba\u5b9f\u306b\u691c\u51fa\u3057\u307e\u3059\u3002\u5f93\u6765\u306eG\u30d0\u30f3\u30c9\u5206\u67d3\u6cd5\uff08\u9855\u5fae\u93e1\u691c\u67fb\uff09\u3067\u306f\u3001\u3053\u306e\u5c0f\u3055\u306a\u91cd\u8907\u3092\u898b\u3064\u3051\u308b\u3053\u3068\u306f\u307b\u307c\u4e0d\u53ef\u80fd\u3067\u3059\u3002<\/li>\n\n\n\n<li>FISH\u6cd5:<br>17p11.2\u9818\u57df\u3092\u5149\u3089\u305b\u308b\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u3066\u3001\u30b3\u30d4\u30fc\u6570\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u89aa\u306e\u4fdd\u56e0\u72b6\u614b\u3092\u78ba\u8a8d\u3059\u308b\u969b\u306b\u3082\u6709\u7528\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5fc3\u30a8\u30b3\u30fc\u30fb\u8179\u90e8\u30a8\u30b3\u30fc:<br>\u8a3a\u65ad\u78ba\u5b9a\u5f8c\u3001\u5fc3\u5947\u5f62\u3084\u814e\u5947\u5f62\u306e\u6709\u7121\u3092\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7761\u7720\u30dd\u30ea\u30b0\u30e9\u30d5\u691c\u67fb:<br>\u7761\u7720\u969c\u5bb3\u3084\u7121\u547c\u5438\u306e\u7a0b\u5ea6\u3092\u6b63\u78ba\u306b\u8a55\u4fa1\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u73fe\u4ee3\u306e\u533b\u5b66\u306b\u304a\u3044\u3066\u3001\u4f59\u5206\u306a\u67d3\u8272\u4f53\u9818\u57df\u3092\u524a\u9664\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6cbb\u7642\u306f\u3001\u75c7\u72b6\u3092\u7ba1\u7406\u3057\u751f\u6d3b\u3092\u30b5\u30dd\u30fc\u30c8\u3059\u308b**\u300c\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5bfe\u75c7\u7642\u6cd5\u300d**\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6804\u990a\u30fb\u6442\u98df\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u65e9\u671f\u306e\u56a5\u4e0b\u8a55\u4fa1\uff08\u98f2\u307f\u8fbc\u307f\u306e\u78ba\u8a8d\uff09\u3092\u884c\u3044\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u7c98\u5ea6\u306e\u8abf\u6574\u3084\u3001\u91cd\u75c7\u306e\u5834\u5408\u306f\u7d4c\u7ba1\u6804\u990a\uff08\u9f3b\u30c1\u30e5\u30fc\u30d6\u3084\u80c3\u763b\uff09\u3067\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u767a\u9054\u652f\u63f4\uff08\u7642\u80b2\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u4ecb\u5165:<\/strong> \u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09\u3092\u7d44\u307f\u5408\u308f\u305b\u307e\u3059\u3002\u7279\u306b\u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3066\u306f\u3001\u65e9\u671f\u304b\u3089\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff08\u7d75\u30ab\u30fc\u30c9\u3084\u30b5\u30a4\u30f3\uff09\u306e\u6d3b\u7528\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7642\u6cd5:<\/strong> ASD\u7684\u7279\u6027\u3084\u591a\u52d5\u306b\u5bfe\u3057\u3001\u5fdc\u7528\u884c\u52d5\u5206\u6790\uff08ABA\uff09\u306a\u3069\u3092\u7528\u3044\u305f\u74b0\u5883\u8abf\u6574\u3084\u7642\u80b2\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5916\u79d1\u7684\u30fb\u5185\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u91cd\u75c7\u5ea6\u306b\u5fdc\u3058\u305f\u5916\u79d1\u624b\u8853\u3084\u7d4c\u904e\u89b3\u5bdf\u3002<\/li>\n\n\n\n<li><strong>\u7761\u7720\u969c\u5bb3:<\/strong> \u30e1\u30e9\u30c8\u30cb\u30f3\u88fd\u5264\u306a\u3069\u306e\u6295\u85ac\u3084\u3001\u7121\u547c\u5438\u306b\u5bfe\u3059\u308bCPAP\uff08\u6301\u7d9a\u967d\u5727\u547c\u5438\u7642\u6cd5\uff09\u306a\u3069\u306e\u691c\u8a0e\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u6559\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u500b\u3005\u306e\u77e5\u7684\u30ec\u30d9\u30eb\u3084\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u7279\u5225\u652f\u63f4\u6559\u80b2\u306e\u63d0\u4f9b\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u751f\u5b58\u671f\u9593:<\/strong> \u91cd\u7be4\u306a\u5fc3\u75be\u60a3\u306a\u3069\u306e\u5408\u4f75\u75c7\u304c\u9069\u5207\u306b\u7ba1\u7406\u3055\u308c\u308c\u3070\u3001\u5bff\u547d\u305d\u306e\u3082\u306e\u306f\u4e00\u822c\u306e\u65b9\u3068\u5927\u304d\u304f\u5909\u308f\u3089\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09:<\/strong> \u8a00\u8a9e\u306e\u9045\u308c\u3084ASD\u7684\u7279\u6027\u306b\u3088\u308a\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u4e00\u5b9a\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u5408\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u9069\u5207\u306a\u7642\u80b2\u306b\u3088\u308a\u793e\u4f1a\u7684\u306a\u9069\u5fdc\u80fd\u529b\u3092\u9ad8\u3081\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>Potocki-Lupski syndrome (PTLS) \u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u306b\u3042\u308b\u300cRAI1\u300d\u3068\u3044\u3046\u8133\u306e\u767a\u9054\u3092\u53f8\u308b\u53f8\u4ee4\u5854\u306e\u5f79\u5272\u3092\u6301\u3064\u907a\u4f1d\u5b50\u304c\u3001\u901a\u5e38\u3088\u308a\u3082\u4e00\u3064\u5206\u591a\u3044\uff08\u5fae\u5c0f\u91cd\u8907\uff09\u3053\u3068\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u8d64\u3061\u3083\u3093\u306e\u6642\u306b\u30df\u30eb\u30af\u3092\u98f2\u3080\u529b\u304c\u5f31\u3044\u300d\u300c\u8a00\u8449\u306e\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u300d\u300c\u81ea\u9589\u75c7\u306e\u3088\u3046\u306a\u3053\u3060\u308f\u308a\u304c\u3042\u308b\u300d\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u6614\u524d\u307e\u3067\u306f\u898b\u3064\u3051\u308b\u306e\u304c\u96e3\u3057\u3044\u75c5\u6c17\u3067\u3057\u305f\u304c\u3001\u73fe\u5728\u306f\u907a\u4f1d\u5b50\u691c\u67fb\uff08\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff09\u3067\u78ba\u5b9f\u306b\u8a3a\u65ad\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u3068\u304d\u3001\u3054\u5bb6\u65cf\u306f\u5c06\u6765\u3078\u306e\u4e0d\u5b89\u3092\u611f\u3058\u3089\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u539f\u56e0\u304c\u308f\u304b\u308b\u3053\u3068\u3067\u300c\u306a\u305c\u8a00\u8449\u304c\u9045\u3044\u306e\u304b\u300d\u3068\u3044\u3046\u7591\u554f\u304c\u89e3\u6d88\u3055\u308c\u3001\u6700\u9069\u306a\u30ea\u30cf\u30d3\u30ea\u3084\u652f\u63f4\u306e\u8a08\u753b\u3092\u7acb\u3066\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>PTLS\u306e\u304a\u5b50\u69d8\u305f\u3061\u306f\u3001\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u304c\u3042\u308c\u3070\u81ea\u5206\u305f\u3061\u306e\u30da\u30fc\u30b9\u3067\u78ba\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002\u5c02\u9580\u533b\u3084\u7642\u80b2\u30c1\u30fc\u30e0\u3068\u624b\u3092\u53d6\u308a\u5408\u3044\u3001\u304a\u5b50\u69d8\u306e\u5f97\u610f\u306a\u3053\u3068\u3084\u500b\u6027\u3092\u5927\u5207\u306b\u80b2\u3066\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Potocki, L., et al.<\/strong> (2000). <em>Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval.<\/em> American Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u30dd\u30c8\u30c4\u30ad\u535a\u58eb\u3068\u30eb\u30d7\u30b9\u30ad\u535a\u58eb\u306b\u3088\u308b\u3001\u672c\u75c7\u5019\u7fa4\u3092\u5b9a\u7fa9\u3057\u305f\u6700\u3082\u91cd\u8981\u306a\u539f\u8457\u8ad6\u6587\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Lupski, J. R., et al.<\/strong> (2007). <em>Potocki-Lupski syndrome (dup(17)(p11.2p11.2)).<\/em> GeneReviews\u00ae [Internet].\n<ul class=\"wp-block-list\">\n<li>\uff08\u6700\u65b0\u306e\u7ba1\u7406\u6307\u91dd\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3001\u8a3a\u65ad\u57fa\u6e96\u304c\u7db2\u7f85\u3055\u308c\u3066\u3044\u308b\u4e16\u754c\u7684\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Zhang, F., et al.<\/strong> (2010). <em>Retinoic acid induced 1 (RAI1) is a dosage-sensitive gene for Potocki-Lupski syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08RAI1\u907a\u4f1d\u5b50\u306e\u904e\u5270\uff08\u91cd\u8907\uff09\u304c\u75c7\u72b6\u306e\u4e3b\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u89e3\u660e\u3057\u305f\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Treadwell-Deering, D., et al.<\/strong> (2010). <em>Cognitive and behavioral characterization in Potocki-Lupski syndrome (17p11.2 duplication).<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08PTLS\u306b\u304a\u3051\u308b\u8a8d\u77e5\u30fb\u884c\u52d5\u7279\u6027\uff08ASD\u69d8\u75c7\u72b6\u306a\u3069\uff09\u3092\u8a73\u7d30\u306b\u8abf\u67fb\u3057\u305f\u6587\u732e\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>Potocki-Lupski syndrome (17p11.2 duplications): A guide for families<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u3001\u3054\u5bb6\u65cf\u5411\u3051\u306e\u5b9f\u8df5\u7684\u30ac\u30a4\u30c9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Orphanet<\/strong>: <em>Potocki-Lupski syndrome (ORPHA:1713)<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u75be\u60a3\u306e\u56fd\u969b\u30dd\u30fc\u30bf\u30eb\u30b5\u30a4\u30c8\u306b\u3088\u308b\u75c5\u614b\u6982\u8981\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-17432","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\/17432","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\/17432\/revisions"}],"predecessor-version":[{"id":17434,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17432\/revisions\/17434"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17432"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}