{"id":17452,"date":"2026-01-22T05:23:45","date_gmt":"2026-01-22T05:23:45","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17452"},"modified":"2026-01-22T05:23:45","modified_gmt":"2026-01-22T05:23:45","slug":"smith-magenis-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/smith-magenis-syndrome\/","title":{"rendered":"Smith-Magenis 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>SMS<\/strong><\/li>\n\n\n\n<li><strong>17p11.2\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\uff0817p11.2 microdeletion syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>17p11.2\u6b20\u5931\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>\u9006\u30dd\u30c8\u30c4\u30ad\u30fb\u30eb\u30d7\u30b9\u30ad\u75c7\u5019\u7fa4<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u540c\u3058\u9818\u57df\u306e\u300c\u91cd\u8907\u300d\u3067\u3042\u308b\u30dd\u30c8\u30c4\u30ad\u30fb\u30eb\u30d7\u30b9\u30ad\u75c7\u5019\u7fa4\uff08PTLS\uff09\u3068\u5bfe\u7167\u7684\u306a\u95a2\u4fc2\u306b\u3042\u308b\u305f\u3081\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\u6b20\u5931<\/strong><\/p>\n\n\n\n<p>SMS\u306f\u300117\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306e\u300c11.2\u300d\u3068\u3044\u3046\u30d0\u30f3\u30c9\u306b\u542b\u307e\u308c\u308b\u7279\u5b9a\u306e\u9818\u57df\u304c\u3001\u3054\u304f\u308f\u305a\u304b\u306b\u5931\u308f\u308c\u308b\uff08<strong>\u5fae\u5c0f<\/strong>\u6b20\u5931\uff09\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u8cac\u4efb\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\u6b20\u5931\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\u9aa8\u683c\u306e\u5f62\u6210\u3001\u305d\u3057\u3066\u4f53\u5185\u306e\u300c\u751f\u7269\u6642\u8a08\u300d\u3092\u8abf\u7bc0\u3059\u308b\u975e\u5e38\u306b\u91cd\u8981\u306a\u8ee2\u5199\u56e0\u5b50\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u304c<strong>\u5fae\u5c0f<\/strong>\u6b20\u5931\u306b\u3088\u3063\u30661\u3064\u5931\u308f\u308c\u308b\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3053\u3068\u3067\u3001\u8133\u5185\u306e\u60c5\u5831\u51e6\u7406\u3084\u30e1\u30e9\u30c8\u30cb\u30f3\uff08\u7761\u7720\u30db\u30eb\u30e2\u30f3\uff09\u306e\u5206\u6ccc\u30ea\u30ba\u30e0\u306b\u81f4\u547d\u7684\u306a\u30a8\u30e9\u30fc\u304c\u751f\u3058\u307e\u3059\u3002<\/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>\u7d0415,000\u4eba \u301c 25,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e0c\u5c11\u6027:<\/strong> \u6bd4\u8f03\u7684\u7a00\u306a\u75be\u60a3\u3067\u3059\u304c\u3001\u8a3a\u65ad\u6280\u8853\u306e\u5411\u4e0a\u306b\u3088\u308a\u3001\u304b\u3064\u3066\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u3084\u6ce8\u610f\u6b20\u9665\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u3068\u8a3a\u65ad\u3055\u308c\u3066\u3044\u305f\u65b9\u306e\u4e2d\u304b\u3089\u767a\u898b\u3055\u308c\u308b\u30b1\u30fc\u30b9\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee:<\/strong> \u7537\u5973\u5dee\u306f\u306a\u304f\u3001\u3069\u3061\u3089\u306e\u6027\u5225\u3067\u3082\u540c\u7b49\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a8d\u77e5\u5ea6:<\/strong> \u72ec\u7279\u306a\u884c\u52d5\u7279\u6027\uff08\u7761\u7720\u30ea\u30ba\u30e0\u306e\u9006\u8ee2\u306a\u3069\uff09\u3092\u6301\u3064\u305f\u3081\u3001\u4e00\u5ea6\u7279\u5fb4\u3092\u77e5\u308b\u3068\u81e8\u5e8a\u7684\u306b\u7591\u3044\u3084\u3059\u3044\u75be\u60a3\u3067\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>SMS\u306e\u75c7\u72b6\u306f\u3001\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u4ee5\u4e0a\u306b\u3001\u7cbe\u795e\u30fb\u884c\u52d5\u9762\u3068\u7761\u7720\u306e\u30ea\u30ba\u30e0\u306b\u6975\u3081\u3066\u5f37\u3044\u500b\u6027\u304c\u73fe\u308c\u308b\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u7761\u7720\u30ea\u30ba\u30e0\u306e\u5287\u7684\u306a\u9006\u8ee2\uff08\u6982\u65e5\u30ea\u30ba\u30e0\u7761\u7720\u969c\u5bb3\uff09<\/strong><\/p>\n\n\n\n<p>SMS\u60a3\u8005\u306e\u6700\u3082\u56f0\u96e3\u304b\u3064\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30e1\u30e9\u30c8\u30cb\u30f3\u30ea\u30ba\u30e0\u306e\u9006\u8ee2:<\/strong> \u901a\u5e38\u3001\u591c\u9593\u306b\u5206\u6ccc\u3055\u308c\u308b\u7761\u7720\u30db\u30eb\u30e2\u30f3\u300c\u30e1\u30e9\u30c8\u30cb\u30f3\u300d\u304c\u3001SMS\u60a3\u8005\u3067\u306f**\u300c\u65e5\u4e2d\u306b\u9ad8\u304f\u3001\u591c\u9593\u306b\u4f4e\u3044\u300d**\u3068\u3044\u3046\u9006\u8ee2\u73fe\u8c61\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7761\u7720\u30d1\u30bf\u30fc\u30f3:<\/strong> \u591c\u4e2d\u306e1\u6642\u30842\u6642\u306b\u30d1\u30c3\u30c1\u30ea\u3068\u76ee\u304c\u899a\u3081\u3066\u3057\u307e\u3044\u3001\u6d3b\u52d5\u3092\u59cb\u3081\u307e\u3059\u3002\u4e00\u65b9\u3067\u65e5\u4e2d\u306f\u731b\u70c8\u306a\u7720\u6c17\u306b\u8972\u308f\u308c\u3001\u5c45\u7720\u308a\u3092\u7e70\u308a\u8fd4\u3057\u307e\u3059\u3002\u3053\u308c\u306f\u5bb6\u65cf\u306e\u751f\u6d3b\u306b\u3082\u591a\u5927\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7279\u5fb4\u7684\u306a\u884c\u52d5\u7279\u6027<\/strong><\/p>\n\n\n\n<p>\u4ed6\u306e\u75be\u60a3\u3067\u306f\u3042\u307e\u308a\u898b\u3089\u308c\u306a\u3044\u3001SMS\u306b\u7279\u7570\u7684\u306a\u884c\u52d5\u69d8\u5f0f\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81ea\u5df1\u62b1\u64c1\uff08Self-hug\uff09:<\/strong> \u8208\u596e\u3057\u305f\u6642\u3084\u5b09\u3057\u3044\u6642\u306b\u3001\u81ea\u5206\u306e\u4e21\u8155\u3092\u80f8\u306e\u524d\u3067\u30ae\u30e5\u30c3\u3068\u4ea4\u5dee\u3055\u305b\u308b\u72ec\u7279\u306e\u3057\u3050\u3055\u3002<\/li>\n\n\n\n<li><strong>\u300c\u3081\u304f\u308a\u30fb\u306a\u3081\u300d\u884c\u52d5:<\/strong> \u6307\u5148\u3092\u306a\u3081\u305f\u308a\u3001\u672c\u3084\u7d19\u3092\u3081\u304f\u3063\u305f\u308a\u3059\u308b\u52d5\u4f5c\u3092\u7e70\u308a\u8fd4\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u5df1\u50b7\u3064\u3051\u884c\u52d5:<\/strong> \u6307\u722a\u3084\u8dbe\u722a\u3092\u5265\u3050\uff08Onychotillomania\uff09\u3001\u76ae\u819a\u3092\u3080\u3057\u308b\u3001\u7570\u7269\u3092\u8033\u3084\u9f3b\u306e\u7a74\u306b\u5165\u308c\u308b\u306a\u3069\u306e\u884c\u52d5\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7206\u767a\u7684\u306a\u611f\u60c5\u8868\u73fe:<\/strong> \u7a81\u7136\u6fc0\u3057\u3044\u30d1\u30cb\u30c3\u30af\u3084\u653b\u6483\u6027\u3092\u898b\u305b\u305f\u76f4\u5f8c\u3001\u975e\u5e38\u306b\u4eba\u61d0\u3063\u3053\u304f\u611b\u60c5\u6df1\u3044\u614b\u5ea6\u306b\u5909\u308f\u308b\u306a\u3069\u3001\u611f\u60c5\u306e\u8d77\u4f0f\u304c\u6fc0\u3057\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u77e5\u7684\u969c\u5bb3\u3068\u8a00\u8a9e\u767a\u9054<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3:<\/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\u9045\u308c:<\/strong> \u5e7c\u5c11\u671f\u306f\u8a00\u8449\u306e\u767a\u9054\u304c\u8457\u3057\u304f\u9045\u308c\u307e\u3059\u304c\u3001\u30b5\u30a4\u30f3\u8a00\u8a9e\uff08\u624b\u8a71\uff09\u306a\u3069\u306e\u8996\u899a\u7684\u306a\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u7fd2\u5f97\u306f\u6bd4\u8f03\u7684\u5f97\u610f\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u7279\u5fb4\u7684\u306a\u9854\u8c8c<\/strong><\/p>\n\n\n\n<p>\u5e74\u9f62\u3068\u3068\u3082\u306b\u7279\u5fb4\u304c\u306f\u3063\u304d\u308a\u3057\u3066\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e45\u306e\u5e83\u3044\u9854\u7acb\u3061:<\/strong> \u982c\u304c\u3075\u3063\u304f\u3089\u3057\u3066\u304a\u308a\u3001\u9854\u5168\u4f53\u304c\u56db\u89d2\u5f62\u306b\u8fd1\u3044\u5f62\u3002<\/li>\n\n\n\n<li><strong>\u7a81\u51fa\u3057\u305f\u984d:<\/strong> \u984d\u304c\u5e83\u304f\u3001\u524d\u306b\u51fa\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u6df1\u3044\u773c\u7aa9:<\/strong> \u76ee\u304c\u5965\u307e\u3063\u3066\u3044\u308b\u3088\u3046\u306b\u898b\u3048\u308b\u3002<\/li>\n\n\n\n<li><strong>\u30c6\u30f3\u30c8\u578b\u306e\u53e3\uff08\u30c6\u30f3\u30c8\u72b6\u4e0a\u5507\uff09:<\/strong> \u4e0a\u5507\u306e\u4e2d\u592e\u304c\u540a\u308a\u4e0a\u304c\u308a\u3001\u5bcc\u58eb\u5c71\u306e\u3088\u3046\u306a\u5f62\u306b\u306a\u308b\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u984e\u75c7\uff08\u5e7c\u5c11\u671f\uff09\u304b\u3089\u7a81\u51fa\u3057\u305f\u4e0b\u984e\uff08\u6210\u4eba\u671f\uff09:<\/strong> \u6210\u9577\u3068\u3068\u3082\u3042\u3054\u304c\u524d\u306b\u51fa\u3066\u304f\u308b\u50be\u5411\u304c\u3042\u308a\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>\u7b4b\u7dca\u5f35\u4f4e\u4e0b:<\/strong> \u4e73\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u904b\u52d5\u767a\u9054\u304c\u9045\u308c\u308b\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u8eab\u9577\u30fb\u810a\u67f1\u5074\u5f2f\u75c7:<\/strong> \u9aa8\u683c\u306e\u6210\u9577\u306b\u554f\u984c\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u611f\u899a\u7570\u5e38:<\/strong> \u75db\u307f\u306b\u5bfe\u3059\u308b\u53cd\u5fdc\u304c\u920d\u3044\uff08\u75db\u899a\u920d\u9ebb\uff09\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u7684\u7570\u5e38:<\/strong> \u8fd1\u8996\u3001\u659c\u8996\u3001\u7db2\u819c\u5265\u96e2\uff08\u81ea\u5df1\u50b7\u3064\u3051\u884c\u52d5\u306b\u95a2\u9023\u3057\u3066\u8d77\u3053\u308b\u30ea\u30b9\u30af\u304c\u3042\u308b\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8074\u899a\u7570\u5e38:<\/strong> \u6162\u6027\u7684\u306a\u4e2d\u8033\u708e\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\u6b20\u5931\u3001\u307e\u305f\u306fRAI1\u907a\u4f1d\u5b50\u306e\u5909\u7570\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u5f62\u5f0f\uff09<\/strong><\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>17p11.2\u5fae\u5c0f\u6b20\u5931\uff08\u7d0490%\uff09:<br>\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\u306b\u308f\u305f\u3063\u3066\u6b20\u3051\u3066\u3044\u308b\u30bf\u30a4\u30d7\u3067\u3059\u3002<\/li>\n\n\n\n<li>RAI1\u907a\u4f1d\u5b50\u5185\u5909\u7570\uff08\u7d0410%\uff09:<br>\u67d3\u8272\u4f53\u306e\u69cb\u9020\u306f\u6b63\u5e38\u3067\u3059\u304c\u3001RAI1\u907a\u4f1d\u5b50\u306e\u4e2d\u306b\u5c0f\u3055\u306a\u66f8\u304d\u63db\u3048\uff08\u70b9\u7a81\u7136\u5909\u7570\uff09\u304c\u3042\u308b\u30bf\u30a4\u30d7\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u65b0\u751f\u7a81\u7136\u5909\u7570:<br>\u307b\u3068\u3093\u3069\u3059\u3079\u3066\u306e\u75c7\u4f8b\u306b\u304a\u3044\u3066\u3001\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u306b\u751f\u3058\u305f\u3082\u306e\u3067\u3059\u3002\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u6975\u3081\u3066\u4f4e\u3044\u3067\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\uff08\u7279\u306b\u7761\u7720\u3068\u884c\u52d5\uff09\u304b\u3089SMS\u3092\u7591\u3044\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\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\u6b20\u5931\u3092\u7cbe\u5bc6\u306b\u7279\u5b9a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>FISH\u6cd5:<br>\u7279\u5b9a\u306e\u9818\u57df\u3092\u5149\u3089\u305b\u3066\u6b20\u5931\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>RAI1\u907a\u4f1d\u5b50\u306e\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0:<br>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u3067\u6b20\u5931\u304c\u898b\u3064\u304b\u3089\u306a\u3044\u5834\u5408\u3001\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u306e\u5909\u7570\u3092\u63a2\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u81e8\u5e8a\u8a55\u4fa1:<br>\u7761\u7720\u65e5\u8a8c\u306e\u8a18\u9332\u3084\u3001\u8eab\u4f53\u7684\u7279\u5fb4\u306e\u8a55\u4fa1\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>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u7761\u7720\u969c\u5bb3\u306e\u6539\u5584\u3068\u3001\u884c\u52d5\u7279\u6027\u3078\u306e\u7406\u89e3\u30fb\u5bfe\u5fdc\u3092\u4e3b\u8ef8\u3068\u3057\u305f**\u300c\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5bfe\u75c7\u7642\u6cd5\u300d**\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u7761\u7720\u969c\u5bb3\u306e\u6539\u5584\uff08\u6700\u512a\u5148\u4e8b\u9805\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30e1\u30e9\u30c8\u30cb\u30f3\u7642\u6cd5:<\/strong> \u591c\u9593\u306e\u30e1\u30e9\u30c8\u30cb\u30f3\u30ec\u30d9\u30eb\u3092\u4e0a\u3052\u308b\u305f\u3081\u306b\u3001\u5c31\u5bdd\u524d\u306b\u30e1\u30e9\u30c8\u30cb\u30f3\u88fd\u5264\u3092\u6295\u4e0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u03b2\u906e\u65ad\u85ac\uff08\u30a2\u30c6\u30ce\u30ed\u30fc\u30eb\u7b49\uff09\u306e\u663c\u9593\u6295\u4e0e:<\/strong> \u65e5\u4e2d\u306e\u30e1\u30e9\u30c8\u30cb\u30f3\u5206\u6ccc\u3092\u6291\u5236\u3057\u3001\u591c\u9593\u306e\u5206\u6ccc\u3092\u4fc3\u3059\u8a66\u307f\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u74b0\u5883\u8abf\u6574:<\/strong> \u5bdd\u5ba4\u3092\u5b89\u5168\u306b\u4fdd\u3061\u3001\u591c\u9593\u306e\u899a\u9192\u6642\u306b\u5bb6\u65cf\u304c\u75b2\u5f0a\u3057\u306a\u3044\u3088\u3046\u306a\u5bfe\u7b56\u3092\u8b1b\u3058\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u884c\u52d5\u30fb\u7cbe\u795e\u7684\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u884c\u52d5\u7642\u6cd5:<\/strong> \u30d1\u30cb\u30c3\u30af\u3084\u81ea\u5df1\u50b7\u3064\u3051\u884c\u52d5\u306b\u5bfe\u3057\u3001\u5fdc\u7528\u884c\u52d5\u5206\u6790\uff08ABA\uff09\u306a\u3069\u3092\u7528\u3044\u305f\u4ecb\u5165\u3002<\/li>\n\n\n\n<li><strong>\u85ac\u7269\u7642\u6cd5:<\/strong> \u6fc0\u3057\u3044\u60c5\u7dd2\u4e0d\u5b89\u5b9a\u3084\u591a\u52d5\u306b\u5bfe\u3057\u3001\u6297\u7cbe\u795e\u75c5\u85ac\u3084\u6c17\u5206\u5b89\u5b9a\u85ac\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u767a\u9054\u652f\u63f4\u30fb\u6559\u80b2<\/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\u3002\u8996\u899a\u7684\u306a\u624b\u304c\u304b\u308a\uff08\u7d75\u30ab\u30fc\u30c9\u306a\u3069\uff09\u3092\u6d3b\u7528\u3057\u305f\u6559\u80b2\u304c\u52b9\u679c\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5225\u652f\u63f4\u6559\u80b2:<\/strong> \u7761\u7720\u4e0d\u8db3\u306b\u3088\u308b\u65e5\u4e2d\u306e\u96c6\u4e2d\u529b\u4f4e\u4e0b\u3092\u8003\u616e\u3057\u305f\u500b\u5225\u306e\u6559\u80b2\u652f\u63f4\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5bb6\u65cf\u3078\u306e\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30ec\u30b9\u30d1\u30a4\u30c8\u30b1\u30a2:<\/strong> \u5bb6\u65cf\u306e\u7761\u7720\u4e0d\u8db3\u3068\u7cbe\u795e\u7684\u75b2\u5f0a\u306f\u975e\u5e38\u306b\u6df1\u523b\u306a\u554f\u984c\u3068\u306a\u308b\u305f\u3081\u3001\u30b7\u30e7\u30fc\u30c8\u30b9\u30c6\u30a4\u3084\u8a2a\u554f\u770b\u8b77\u3092\u7a4d\u6975\u7684\u306b\u6d3b\u7528\u3057\u3001\u4f11\u606f\u3092\u78ba\u4fdd\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u751f\u5b58\u671f\u9593:<\/strong> \u91cd\u7be4\u306a\u5185\u81d3\u5408\u4f75\u75c7\u304c\u5c11\u306a\u3051\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>\u793e\u4f1a\u6027:<\/strong> \u751f\u6daf\u306b\u308f\u305f\u308b\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u3067\u3059\u304c\u3001\u9069\u5207\u306a\u652f\u63f4\u74b0\u5883\u306e\u3082\u3068\u3067\u3001\u5c31\u52b4\u652f\u63f4\u3084\u30b0\u30eb\u30fc\u30d7\u30db\u30fc\u30e0\u306a\u3069\u306e\u793e\u4f1a\u8cc7\u6e90\u3092\u5229\u7528\u3057\u306a\u304c\u3089\u751f\u6d3b\u3059\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>Smith-Magenis syndrome\uff08\u30b9\u30df\u30b9\u30fb\u30de\u30ae\u30cb\u30b9\u75c7\u5019\u7fa4\uff09\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u300cRAI1\u300d\u3068\u3044\u3046\u3001\u4f53\u306e\u30ea\u30ba\u30e0\u3084\u6210\u9577\u3092\u53f8\u308b\u5927\u5207\u306a\u907a\u4f1d\u5b50\u304c\u3001\u307b\u3093\u306e\u308f\u305a\u304b\u306b\u8db3\u308a\u306a\u3044\uff08\u5fae\u5c0f\u6b20\u5931\uff09\u3053\u3068\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001\u300c\u663c\u591c\u304c\u9006\u8ee2\u3057\u3066\u3057\u307e\u3046\u7761\u7720\u30ea\u30ba\u30e0\u300d\u3068\u3001\u30d1\u30cb\u30c3\u30af\u3084\u300c\u81ea\u5206\u3092\u50b7\u3064\u3051\u3066\u3057\u307e\u3046\u884c\u52d5\u300d\u306b\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u304a\u5b50\u69d8\u306e\u308f\u304c\u307e\u307e\u3084\u80b2\u3066\u65b9\u306e\u305b\u3044\u3067\u306f\u306a\u304f\u3001\u8133\u5185\u306e\u6642\u8a08\u3084\u30db\u30eb\u30e2\u30f3\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u304c\u79d1\u5b66\u7684\u306b\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u304c\u3064\u304f\u3053\u3068\u3067\u3001\u30e1\u30e9\u30c8\u30cb\u30f3\u3092\u7528\u3044\u305f\u7761\u7720\u306e\u8abf\u6574\u3084\u3001\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u63a5\u3057\u65b9\u306e\u30d2\u30f3\u30c8\u3092\u5f97\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>SMS\u306e\u304a\u5b50\u69d8\u305f\u3061\u306f\u3001\u4e00\u65b9\u3067\u975e\u5e38\u306b\u611b\u60c5\u6df1\u304f\u3001\u4eba\u3092\u559c\u3070\u305b\u308b\u3053\u3068\u304c\u5927\u597d\u304d\u306a\u4e00\u9762\u3082\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u3054\u5bb6\u65cf\u3060\u3051\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u533b\u7642\u3084\u798f\u7949\u306e\u30c1\u30fc\u30e0\u3068\u5171\u306b\u3001\u304a\u5b50\u69d8\u3068\u3054\u5bb6\u65cf\u304c\u5b89\u5fc3\u3057\u3066\u7720\u308a\u3001\u7b11\u9854\u3067\u904e\u3054\u305b\u308b\u74b0\u5883\u3092\u4f5c\u3063\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>Smith, A. C., Magenis, R. E., et al.<\/strong> (1986). <em>Interstitial deletion of (17)(p11.2p11.2) in nine patients.<\/em> American Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u30b9\u30df\u30b9\u535a\u58eb\u3068\u30de\u30ae\u30cb\u30b9\u535a\u58eb\u306b\u3088\u308b\u3001\u672c\u75c7\u5019\u7fa4\u3092\u5b9a\u7fa9\u3057\u305f\u6700\u521d\u306e\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Gropman, A. L., et al.<\/strong> (2006). <em>The behavioral phenotype of Smith-Magenis syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08SMS\u306e\u884c\u52d5\u7279\u6027\u3084\u7761\u7720\u969c\u5bb3\u3092\u8a73\u7d30\u306b\u89e3\u8aac\u3057\u305f\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Potocki, L., et al.<\/strong> (2000). <em>Molecular mechanism for duplication 17p11.2\u2014the homologous recombination reciprocal of the Smith-Magenis microdeletion.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u91cd\u8907\uff08PTLS\uff09\u3068\u6b20\u5931\uff08SMS\uff09\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u6bd4\u8f03\u3057\u305f\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Smith-Magenis Syndrome<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u8a3a\u65ad\u3001\u7ba1\u7406\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u95a2\u3059\u308b\u4e16\u754c\u7684\u6a19\u6e96\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>Smith-Magenis Syndrome: 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>De Leersnyder, H., et al.<\/strong> (2001). <em>Beta-1-adrenergic antagonists improve sleep and behavioral disturbances in Smith-Magenis syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u03b2\u906e\u65ad\u85ac\u3092\u7528\u3044\u305f\u7761\u7720\u969c\u5bb3\u6cbb\u7642\u306e\u6709\u52b9\u6027\u306b\u95a2\u3059\u308b\u81e8\u5e8a\u7814\u7a76\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-17452","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\/17452","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\/17452\/revisions"}],"predecessor-version":[{"id":17454,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17452\/revisions\/17454"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17452"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}