{"id":17114,"date":"2026-01-21T06:49:28","date_gmt":"2026-01-21T06:49:28","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17114"},"modified":"2026-01-22T08:32:24","modified_gmt":"2026-01-22T08:32:24","slug":"6q16-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/6q16-microdeletion-syndrome\/","title":{"rendered":"6q16 microdeletion 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>6q16\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>6q16\u6b20\u5931\u75c7\u5019\u7fa4\uff086q16 deletion syndrome\uff09<\/li>\n\n\n\n<li>6q16\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 6q16\uff09<\/li>\n\n\n\n<li>\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u69d8\u75c7\u5019\u7fa4\uff08Prader-Willi-like syndrome; PWLS\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75be\u60a3\u306f\u3001\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\uff08PWS\uff09\u3068\u81e8\u5e8a\u50cf\u304c\u9177\u4f3c\u3057\u3066\u3044\u308b\uff08\u80a5\u6e80\u3001\u904e\u98df\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306a\u3069\uff09\u305f\u3081\u3001PWS\u69d8\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u306a\u539f\u56e0\u306e\u4e00\u3064\u3068\u3057\u3066\u4f4d\u7f6e\u3065\u3051\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>SIM1\u6b20\u640d\u75c7\uff08SIM1 deficiency \/ SIM1 haploinsufficiency\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75c7\u5019\u7fa4\u306e\u4e2d\u6838\u75c7\u72b6\u3067\u3042\u308b\u300c\u80a5\u6e80\u300d\u306f\u3001\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308b<em>SIM1<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u305f\u3081\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u57fa\u3065\u3044\u3066\u3053\u3046\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u3042\u308a\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>6\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0916\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e6\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u4e2d\u9593\u4ed8\u8fd1\u306b\u3042\u308b\u300c16\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\uff086q16.1\u301c6q16.3\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>6q16\u9818\u57df\u306e\u6b20\u5931\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u6570\u767e\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u304b\u3089\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u306e\u7814\u7a76\u306b\u3088\u308a\u3001\u3053\u306e\u9818\u57df\u306b\u306f\u98df\u6b32\u306e\u5236\u5fa1\u3084\u8133\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u5224\u660e\u3057\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u300c\u8cac\u4efb\u907a\u4f1d\u5b50\u300d\u3068\u3057\u3066\u6ce8\u76ee\u3055\u308c\u3066\u3044\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>SIM1 (Single-minded 1):<\/strong> 6q16.3\u306b\u4f4d\u7f6e\u3002\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>\u8133\u306e\u8996\u5e8a\u4e0b\u90e8\uff08\u98df\u6b32\u3084\u30db\u30eb\u30e2\u30f3\u306e\u4e2d\u67a2\uff09\u306b\u3042\u308b\u300c\u5ba4\u508d\u6838\uff08PVN\uff09\u300d\u306e\u767a\u9054\u3068\u6a5f\u80fd\u7dad\u6301\u306b\u4e0d\u53ef\u6b20\u306a\u8ee2\u5199\u56e0\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f79\u5272:<\/strong> \u98df\u6b32\u3092\u6291\u5236\u3057\u3001\u6e80\u8179\u611f\u3092\u611f\u3058\u3055\u305b\u308b\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306b\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u304c\u534a\u5206\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u306a\u308b\u3068\u3001\u6e80\u8179\u4e2d\u67a2\u304c\u3046\u307e\u304f\u50cd\u304b\u305a\u3001**\u300c\u904e\u98df\uff08Hyperphagia\uff09\u300d<strong>\u3084<\/strong>\u300c\u91cd\u5ea6\u306e\u80a5\u6e80\u300d**\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\u306e\u80a5\u6e80\u30e1\u30ab\u30cb\u30ba\u30e0\u3068\u5171\u901a\u3059\u308b\u90e8\u5206\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GRIK2 (Glutamate Receptor, Ionotropic, Kainate 2):<\/strong> 6q16.3\u306b\u4f4d\u7f6e\u3002\n<ul class=\"wp-block-list\">\n<li>\u8133\u5185\u306e\u4e3b\u8981\u306a\u8208\u596e\u6027\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u3067\u3042\u308b\u300c\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u300d\u306e\u53d7\u5bb9\u4f53\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f79\u5272:<\/strong> \u8a8d\u77e5\u6a5f\u80fd\u3084\u793e\u4f1a\u6027\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong> \u77e5\u7684\u969c\u5bb3\u3084\u3001**\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09**\u306a\u3069\u306e\u884c\u52d5\u7279\u6027\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>POU3F2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u795e\u7d4c\u767a\u9054\u3084\u4ee3\u8b1d\u306b\u95a2\u4e0e\u3059\u308b\u907a\u4f1d\u5b50\u3067\u3042\u308a\u3001\u80a5\u6e80\u3084\u767a\u9054\u9045\u6ede\u3078\u306e\u5bc4\u4e0e\u304c\u7814\u7a76\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>MCHR2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30e1\u30e9\u30cb\u30f3\u51dd\u96c6\u30db\u30eb\u30e2\u30f3\u53d7\u5bb9\u4f53\u3067\u3042\u308a\u3001\u30a8\u30cd\u30eb\u30ae\u30fc\u4ee3\u8b1d\u3084\u6442\u98df\u884c\u52d5\u306e\u8abf\u7bc0\u306b\u95a2\u308f\u3063\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>\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u306b\u304a\u3051\u308b\u8a73\u7d30\u306a\u75c7\u4f8b\u5831\u544a\u6570\u306f\u6570\u5341\u4f8b\u301c\u767e\u4f8b\u7a0b\u5ea6\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u300c\u767a\u751f\u3057\u3066\u3044\u306a\u3044\u300d\u306e\u3067\u306f\u306a\u304f\u3001\u4ee5\u4e0b\u306e\u7406\u7531\u306b\u3088\u308b**\u300c\u904e\u5c11\u8a3a\u65ad\uff08Underdiagnosis\uff09\u300d**\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>PWS\u3068\u306e\u6df7\u540c:<\/strong> \u75c7\u72b6\u304cPWS\u306b\u9177\u4f3c\u3057\u3066\u3044\u308b\u305f\u3081\u3001PWS\u306e\u907a\u4f1d\u5b50\u691c\u67fb\uff0815\u756a\u67d3\u8272\u4f53\u306e\u30e1\u30c1\u30eb\u5316\u89e3\u6790\u306a\u3069\uff09\u3092\u884c\u3044\u3001\u300c\u9670\u6027\uff08PWS\u3067\u306f\u306a\u3044\uff09\u300d\u3068\u5224\u5b9a\u3055\u308c\u305f\u5f8c\u3001\u539f\u56e0\u4e0d\u660e\u306e\u307e\u307e\u904e\u3054\u3055\u308c\u3066\u3044\u308b\u30b1\u30fc\u30b9\u306e\u4e2d\u306b\u672c\u75be\u60a3\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u691c\u67fb\u306e\u58c1:<\/strong> \u4e00\u822c\u7684\u306aG\u30d0\u30f3\u30c9\u67d3\u8272\u4f53\u691c\u67fb\u3067\u306f\u898b\u9003\u3055\u308c\u308b\u5fae\u7d30\u306a\u6b20\u5931\u3067\u3042\u308a\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u3092\u884c\u308f\u306a\u3044\u3068\u8a3a\u65ad\u3067\u304d\u307e\u305b\u3093\u3002<\/li>\n<\/ol>\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>6q16 microdeletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u80a5\u6e80\u30fb\u904e\u98df\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u300c\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u300d**\u304c3\u5927\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306f\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\uff08PWS\uff09\u3068\u975e\u5e38\u306b\u5171\u901a\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u3044\u304f\u3064\u304b\u306e\u9055\u3044\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u80a5\u6e80\u30fb\u904e\u98df\uff08Obesity &amp; Hyperphagia\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e\u6700\u3082\u533b\u5b66\u7684\u7ba1\u7406\u3092\u8981\u3059\u308b\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u904e\u98df\uff08Hyperphagia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6e80\u8179\u611f\u3092\u611f\u3058\u306b\u304f\u304f\u3001\u98df\u3079\u7269\u3078\u306e\u57f7\u7740\u304c\u5f37\u304f\u306a\u308a\u307e\u3059\u3002\u300c\u3044\u304f\u3089\u98df\u3079\u3066\u3082\u304a\u8179\u304c\u7a7a\u304f\u300d\u3068\u3044\u3046\u611f\u899a\u3092\u6301\u3064\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u76d7\u307f\u98df\u3044\u3084\u3001\u30b4\u30df\u7bb1\u3092\u3042\u3055\u308b\u3068\u3044\u3063\u305f\u884c\u52d5\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u65e9\u671f\u767a\u75c7\u578b\u80a5\u6e80:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5e7c\u5150\u671f\uff082\u301c3\u6b73\u9803\uff09\u304b\u3089\u6025\u901f\u306b\u4f53\u91cd\u304c\u5897\u52a0\u3057\u59cb\u3081\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u9069\u5207\u306a\u98df\u4e8b\u7ba1\u7406\u3092\u884c\u308f\u306a\u3044\u3068\u3001\u91cd\u5ea6\u306e\u80a5\u6e80\u306b\u81f3\u308a\u3001\u7cd6\u5c3f\u75c5\u3084\u7761\u7720\u6642\u7121\u547c\u5438\u75c7\u5019\u7fa4\u306a\u3069\u306e\u5408\u4f75\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>PWS\u3068\u306e\u9055\u3044:<\/strong>\n<ul class=\"wp-block-list\">\n<li>PWS\u3067\u306f\u65b0\u751f\u5150\u671f\u306b\u300c\u54fa\u4e73\u969c\u5bb3\uff08\u30df\u30eb\u30af\u304c\u98f2\u3081\u306a\u3044\uff09\u300d\u304c\u3042\u308a\u3001\u305d\u306e\u5f8c\u5e7c\u5150\u671f\u306b\u904e\u98df\u3078\u8ee2\u3058\u307e\u3059\u304c\u30016q16\u6b20\u5931\u3067\u3082\u65b0\u751f\u5150\u671f\u306e\u54fa\u4e73\u4e0d\u826f\u306f\u898b\u3089\u308c\u308b\u3082\u306e\u306e\u3001PWS\u307b\u3069\u91cd\u5ea6\u30fb\u9577\u671f\u9593\u3067\u306f\u306a\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\u3067\u3001\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u8a8d\u3081\u3089\u308c\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>\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u4e2d\u7b49\u5ea6\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u9045\u308c\uff08Speech delay\uff09\u304c\u9855\u8457\u3067\u3042\u308a\u3001\u69cb\u97f3\u969c\u5bb3\uff08\u767a\u97f3\u304c\u4e0d\u660e\u77ad\uff09\u3092\u4f34\u3046\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u958b\u59cb\u306a\u3069\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09\uff1a<\/strong> \u4e73\u5e7c\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306e\u4e00\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\uff1a<\/strong> \u793e\u4f1a\u6027\u306e\u82e6\u624b\u3055\u3001\u3053\u3060\u308f\u308a\u3001\u5e38\u540c\u884c\u52d5\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>ADHD:<\/strong> \u591a\u52d5\u3001\u4e0d\u6ce8\u610f\u3001\u885d\u52d5\u6027\u3002<\/li>\n\n\n\n<li><strong>\u304b\u3093\u3057\u3083\u304f:<\/strong> \u611f\u60c5\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u96e3\u3057\u304f\u3001\u30d1\u30cb\u30c3\u30af\u3092\u8d77\u3053\u3057\u3084\u3059\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u9854\u8c8c<\/strong><\/p>\n\n\n\n<p>PWS\u3068\u5171\u901a\u3059\u308b\u7279\u5fb4\uff08PWS\u69d8\u9854\u8c8c\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9854\u8c8c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e38\u3044\u9854\uff08Round face\uff09\u3001\u3075\u3063\u304f\u3089\u3057\u305f\u982c\u3002<\/li>\n\n\n\n<li>\u77ed\u3044\u984d\u3001\u5e73\u5766\u306a\u5f8c\u982d\u90e8\uff08Brachycephaly\uff09\u3002<\/li>\n\n\n\n<li>\u30a2\u30fc\u30e2\u30f3\u30c9\u5f62\u306e\u76ee\u3001\u5185\u773c\u89d2\u8d05\u76ae\uff08\u76ee\u982d\u306e\u3072\u3060\uff09\u3002<\/li>\n\n\n\n<li>\u8584\u3044\u4e0a\u5507\u3001\u53e3\u89d2\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li>\u9f3b\u6881\u304c\u5e73\u5766\u3001\u77ed\u3044\u9f3b\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u624b\u8db3:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u3055\u306a\u624b\u8db3\uff08Small hands and feet\uff09\uff1a<\/strong> \u4f53\u683c\u306b\u6bd4\u3079\u3066\u624b\u8db3\u304c\u5c0f\u3055\u3044\u3053\u3068\u304c\u7279\u5fb4\u7684\u3067\u3059\uff08PWS\u3067\u3082\u898b\u3089\u308c\u308b\u7279\u5fb4\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u659c\u8996\uff08Strabismus\uff09\u3001\u5c48\u6298\u7570\u5e38\uff08\u9060\u8996\u30fb\u4e71\u8996\uff09\u3001\u773c\u632f\u306a\u3069\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5185\u5206\u6ccc:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u8eab\u9577\uff08Short stature\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001PWS\u307b\u3069\u9855\u8457\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6210\u9577\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u4e0d\u5168\u3092\u5408\u4f75\u3059\u308b\u30b1\u30fc\u30b9\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\uff08Hypogonadism\uff09\u3084\u505c\u7559\u7cbe\u5de3\uff08\u7537\u5150\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u3082PWS\u306b\u6bd4\u3079\u308b\u3068\u983b\u5ea6\u306f\u4f4e\u304f\u3001\u601d\u6625\u671f\u306e\u767a\u6765\u3082\u6bd4\u8f03\u7684\u6b63\u5e38\u306a\u5834\u5408\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u795e\u7d4c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u767a\u4f5c\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08\u7d0420\u301c30%\uff09\u3002<\/li>\n\n\n\n<li>\u8133\u753b\u50cf\uff08MRI\uff09\u3067\u8133\u6881\u306e\u7570\u5e38\u3084\u8133\u5ba4\u62e1\u5927\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>6\u756a\u67d3\u8272\u4f53\u9577\u8155\uff086q16\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>6q16\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>\u3053\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u975e\u5e38\u306b\u4f4e\u3044\uff08\u4e00\u822c\u96c6\u56e3\u3068\u540c\u7a0b\u5ea6\uff09\u3067\u3059\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>\u4e00\u90e8\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001\u89aa\u304b\u3089\u306e\u907a\u4f1d\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e0d\u5b8c\u5168\u6d78\u900f\uff08Incomplete Penetrance\uff09\uff1a<\/strong> \u3053\u3053\u304c\u91cd\u8981\u3067\u3059\u3002\u89aa\u304c\u540c\u3058\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u89aa\u306f\u80a5\u6e80\u3067\u306f\u306a\u304f\u3001\u8efd\u5ea6\u306e\u5b66\u7fd2\u969c\u5bb3\u306e\u307f\u3067\u3042\u308b\uff08\u3042\u308b\u3044\u306f\u7121\u75c7\u72b6\u306b\u8fd1\u3044\uff09\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306f\u3001<em>SIM1<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u3042\u3063\u3066\u3082\u3001\u5fc5\u305a\u3057\u3082\u5168\u54e1\u304c\u91cd\u5ea6\u306e\u80a5\u6e80\u306b\u306a\u308b\u308f\u3051\u3067\u306f\u306a\u3044\uff08\u74b0\u5883\u8981\u56e0\u3084\u4ed6\u306e\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u3092\u53d7\u3051\u308b\uff09\u3053\u3068\u3092\u793a\u5506\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. SIM1\u30cf\u30d7\u30ed\u4e0d\u5168\u3068\u8996\u5e8a\u4e0b\u90e8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><em>SIM1<\/em>\u907a\u4f1d\u5b50\u306f\u3001\u8996\u5e8a\u4e0b\u90e8\u306e\u5ba4\u508d\u6838\uff08PVN\uff09\u306b\u3042\u308b\u795e\u7d4c\u7d30\u80de\u306e\u5206\u5316\u3092\u8a98\u5c0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>PVN\u306f\u3001\u98df\u6b32\u6291\u5236\u30db\u30eb\u30e2\u30f3\uff08\u30e1\u30e9\u30ce\u30b3\u30eb\u30c1\u30f3\u306a\u3069\uff09\u306e\u30b7\u30b0\u30ca\u30eb\u3092\u53d7\u3051\u53d6\u308b\u91cd\u8981\u306a\u5834\u6240\u3067\u3059\u3002<\/li>\n\n\n\n<li><em>SIM1<\/em>\u304c\u4e0d\u8db3\u3059\u308b\u3068PVN\u304c\u6b63\u3057\u304f\u5f62\u6210\u3055\u308c\u305a\u3001\u300c\u3082\u3046\u304a\u8179\u3044\u3063\u3071\u3044\u300d\u3068\u3044\u3046\u30b7\u30b0\u30ca\u30eb\u304c\u8133\u306b\u5c4a\u304b\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u304c\u300c\u7d42\u308f\u308a\u306e\u306a\u3044\u98df\u6b32\u300d\u306e\u6b63\u4f53\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>\u300cPWS\u69d8\u306e\u80a5\u6e80\u30fb\u904e\u98df\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u304c\u3042\u308a\u3001PWS\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u9670\u6027\u3060\u3063\u305f\u5834\u5408\u306b\u5f37\u304f\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>6q16\u9818\u57df\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\uff08bp\u5358\u4f4d\uff09\u3068\u3001<em>SIM1<\/em>\u3084<em>GRIK2<\/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>\u5f93\u6765\u306eG\u30d0\u30f3\u30c9\u691c\u67fb\uff08\u9855\u5fae\u93e1\u691c\u67fb\uff09\u3067\u306f\u3001\u6b20\u5931\u304c\u5c0f\u3055\u3059\u304e\u308b\u5834\u5408\u306b\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001CMA\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>PWS\u306e\u9664\u5916\u8a3a\u65ad:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u81e8\u5e8a\u75c7\u72b6\u304c\u4f3c\u3066\u3044\u308b\u305f\u3081\u3001\u307e\u305a\u306f15\u756a\u67d3\u8272\u4f53\u306e\u30e1\u30c1\u30eb\u5316\u691c\u67fb\u306a\u3069\u3067PWS\u306e\u53ef\u80fd\u6027\u3092\u9664\u5916\u3059\u308b\u3053\u3068\u304c\u8a3a\u65ad\u306e\u7b2c\u4e00\u6b69\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09 \/ \u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u6b20\u5931\u3067\u306f\u306a\u304f\u3001<em>SIM1<\/em>\u907a\u4f1d\u5b50\u306e\u4e2d\u306e\u70b9\u5909\u7570\u3067\u3082\u540c\u3058\u75c7\u72b6\uff08SIM1\u6b20\u640d\u75c7\uff09\u304c\u51fa\u308b\u305f\u3081\u3001CMA\u3067\u7570\u5e38\u304c\u306a\u304b\u3063\u305f\u5834\u5408\u306b\u3053\u308c\u3089\u306e\u691c\u67fb\u3067\u8a3a\u65ad\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6b20\u5931\u3057\u305f\u67d3\u8272\u4f53\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001PWS\u306b\u6e96\u3058\u305f\u4f53\u91cd\u7ba1\u7406\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. \u80a5\u6e80\u30fb\u904e\u98df\u306e\u7ba1\u7406\uff08\u6700\u512a\u5148\u8ab2\u984c\uff09<\/strong><\/p>\n\n\n\n<p>\u65e9\u671f\u304b\u3089\u306e\u4ecb\u5165\u304c\u4e88\u5f8c\u3092\u5de6\u53f3\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u98df\u4e8b\u7642\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u53b3\u683c\u306a\u30ab\u30ed\u30ea\u30fc\u5236\u9650\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u300c\u98df\u3079\u305f\u3044\u300d\u3068\u3044\u3046\u6b32\u6c42\u306f\u672c\u4eba\u306e\u610f\u5fd7\u3067\u306f\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3067\u304d\u306a\u3044\uff08\u8133\u306e\u6a5f\u80fd\u969c\u5bb3\u3067\u3042\u308b\uff09\u305f\u3081\u3001\u7269\u7406\u7684\u306b\u98df\u3079\u7269\u3092\u9060\u3056\u3051\u308b\u74b0\u5883\u8abf\u6574\uff08\u51b7\u8535\u5eab\u3084\u68da\u306b\u9375\u3092\u304b\u3051\u308b\u306a\u3069\uff09\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5bb6\u65cf\u5168\u54e1\u3067\u5354\u529b\u3057\u3001\u6c7a\u307e\u3063\u305f\u6642\u9593\u306b\u6c7a\u307e\u3063\u305f\u91cf\u3060\u3051\u3092\u63d0\u4f9b\u3057\u3001\u304a\u304b\u308f\u308a\u306a\u3069\u306e\u4f8b\u5916\u3092\u4f5c\u3089\u306a\u3044\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u7642\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u304c\u3042\u308a\u904b\u52d5\u3092\u5acc\u304c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u4ee3\u8b1d\u3092\u4e0a\u3052\u3001\u4f53\u91cd\u5897\u52a0\u3092\u9632\u3050\u305f\u3081\u306b\u3001\u65e5\u5e38\u7684\u306a\u904b\u52d5\u7fd2\u6163\uff08\u30a6\u30a9\u30fc\u30ad\u30f3\u30b0\u306a\u3069\uff09\u3092\u53d6\u308a\u5165\u308c\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>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>SST\uff08\u30bd\u30fc\u30b7\u30e3\u30eb\u30b9\u30ad\u30eb\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u304b\u3093\u3057\u3083\u304f\u3084\u3053\u3060\u308f\u308a\u306e\u5f37\u3055\u306b\u5bfe\u3057\u3001\u611f\u60c5\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u65b9\u6cd5\u3084\u793e\u4f1a\u7684\u306a\u30eb\u30fc\u30eb\u3092\u5b66\u3073\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5408\u4f75\u75c7\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5185\u5206\u6ccc:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u4e0d\u5168\u304c\u3042\u308b\u5834\u5408\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u7642\u6cd5\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001PWS\u307b\u3069\u4e00\u822c\u7684\u306a\u9069\u5fdc\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u614e\u91cd\u306a\u8a55\u4fa1\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7cd6\u5c3f\u75c5\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u5b9a\u671f\u7684\u306b\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u659c\u8996\u3084\u5c48\u6298\u7570\u5e38\u306b\u5bfe\u3057\u3001\u773c\u93e1\u88c5\u7528\u306a\u3069\u306e\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u75be\u60a3\u7406\u89e3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u300c\u98df\u3079\u3066\u3057\u307e\u3046\u306e\u306f\u308f\u304c\u307e\u307e\u3067\u306f\u306a\u304f\u3001\u75c5\u6c17\u306e\u75c7\u72b6\u3067\u3042\u308b\u300d\u3053\u3068\u3092\u5bb6\u65cf\u3084\u5b66\u6821\u95a2\u4fc2\u8005\u304c\u7406\u89e3\u3059\u308b\u3053\u3068\u304c\u3001\u672c\u4eba\u3092\u5b88\u308b\u3053\u3068\u306b\u3064\u306a\u304c\u308a\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\u67d3\u8272\u4f53\u691c\u67fb\u3092\u884c\u3044\u3001\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\u3084\u4e0d\u5b8c\u5168\u6d78\u900f\u306e\u53ef\u80fd\u6027\u306b\u3064\u3044\u3066\u8aac\u660e\u3092\u53d7\u3051\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>6q16 microdeletion syndrome\u306f\u30016\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u300c\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\uff08PWS\uff09\u300d\u3068\u53cc\u5b50\u306e\u3088\u3046\u306b\u4f3c\u305f\u75c7\u72b6\u3001\u7279\u306b\u300c\u98df\u3079\u3066\u3082\u98df\u3079\u3066\u3082\u304a\u8179\u304c\u7a7a\u304f\uff08\u904e\u98df\uff09\u300d\u3084\u300c\u592a\u308a\u3084\u3059\u3044\u300d\u3068\u3044\u3046\u7279\u5fb4\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>PWS\u306e\u691c\u67fb\u3092\u53d7\u3051\u3066\u300c\u9670\u6027\u300d\u3068\u8a00\u308f\u308c\u3001\u539f\u56e0\u304c\u308f\u304b\u3089\u305a\u306b\u60a9\u307e\u308c\u3066\u304d\u305f\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u3053\u306e\u8a3a\u65ad\u306f\u5927\u304d\u306a\u8ee2\u6a5f\u3068\u306a\u308b\u306f\u305a\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u539f\u56e0\u306f\u3001\u8133\u306e\u6e80\u8179\u4e2d\u67a2\u3092\u4f5c\u308b\u305f\u3081\u306e\u907a\u4f1d\u5b50\uff08SIM1\uff09\u304c\u4e0d\u8db3\u3057\u3066\u3044\u308b\u3053\u3068\u306b\u3042\u308a\u307e\u3059\u3002\u3064\u307e\u308a\u3001\u904e\u98df\u306f\u300c\u610f\u601d\u306e\u5f31\u3055\u300d\u3084\u300c\u3057\u3064\u3051\u306e\u554f\u984c\u300d\u3067\u306f\u306a\u304f\u3001\u8133\u306e\u69cb\u9020\u7684\u306a\u554f\u984c\u306a\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u3053\u3068\u3092\u7406\u89e3\u3059\u308b\u3060\u3051\u3067\u3001\u304a\u5b50\u3055\u3093\u3078\u306e\u63a5\u3057\u65b9\u306f\u5927\u304d\u304f\u5909\u308f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u6211\u6162\u3057\u306a\u3055\u3044\u300d\u3068\u53f1\u308b\u306e\u3067\u306f\u306a\u304f\u3001\u98df\u3079\u7269\u304c\u76ee\u306b\u5165\u3089\u306a\u3044\u3088\u3046\u306b\u74b0\u5883\u3092\u6574\u3048\u3066\u3042\u3052\u308b\u3053\u3068\u304c\u3001\u304a\u5b50\u3055\u3093\u306e\u5fc3\u3092\u5b89\u5b9a\u3055\u305b\u3001\u80a5\u6e80\u3092\u9632\u3050\u6700\u826f\u306e\u65b9\u6cd5\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u8a00\u8449\u306e\u9045\u308c\u306b\u3064\u3044\u3066\u3082\u3001\u7642\u80b2\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u7740\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002\u624b\u5148\u304c\u5c0f\u3055\u304f\u4e0d\u5668\u7528\u306a\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u6839\u6c17\u5f37\u304f\u30b5\u30dd\u30fc\u30c8\u3059\u308b\u3053\u3068\u3067\u3001\u3067\u304d\u308b\u3053\u3068\u306f\u5897\u3048\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u80a5\u6e80\u306e\u7ba1\u7406\u306f\u751f\u6daf\u7d9a\u304f\u8ab2\u984c\u3067\u3059\u304c\u3001\u65e9\u671f\u304b\u3089\u9069\u5207\u306a\u751f\u6d3b\u7fd2\u6163\u3092\u78ba\u7acb\u3059\u308b\u3053\u3068\u3067\u3001\u5065\u5eb7\u306b\u904e\u3054\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u5150\u79d1\u533b\u3001\u6804\u990a\u58eb\u3001\u5fc3\u7406\u58eb\u3001\u305d\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u5065\u3084\u304b\u306a\u672a\u6765\u3092\u4e00\u7dd2\u306b\u5b88\u3063\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>Bonaglia, M.C., et al.<\/strong> (2008). <em>Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype.<\/em> European Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b6q16\u6b20\u5931\u3092\u6301\u3064\u60a3\u8005\u306e\u8a73\u7d30\u306a\u81e8\u5e8a\u50cf\u3092\u89e3\u6790\u3057\u3001PWS\u69d8\u75c7\u72b6\uff08\u80a5\u6e80\u306a\u3069\uff09\u306e\u8cac\u4efb\u9818\u57df\u3092SIM1\u907a\u4f1d\u5b50\u3092\u542b\u30804.1Mb\u306b\u7d5e\u308a\u8fbc\u3093\u3060\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>El Khattabi, L., et al.<\/strong> (2015). <em>Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.<\/em> European Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203bSIM1\u3092\u542b\u30806q16\u6b20\u5931\u3092\u6301\u306415\u4f8b\u3092\u5831\u544a\u3057\u3001SIM1\u30cf\u30d7\u30ed\u4e0d\u5168\u3068\u80a5\u6e80\u306e\u95a2\u9023\u3092\u78ba\u8a8d\u3057\u3064\u3064\u3001\u4e0d\u5b8c\u5168\u6d78\u900f\uff08\u6b20\u5931\u304c\u3042\u3063\u3066\u3082\u80a5\u6e80\u306b\u306a\u3089\u306a\u3044\u4f8b\uff09\u306e\u5b58\u5728\u3092\u660e\u3089\u304b\u306b\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Varela, E.S., et al.<\/strong> (2006). <em>Monogenic and syndromic obesity: the role of SIM1.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bSIM1\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u3068\u3001\u30d2\u30c8\u306b\u304a\u3051\u308b\u80a5\u6e80\u75c7\u5019\u7fa4\uff08PWS\u69d8\u75c7\u72b6\uff09\u3068\u306e\u95a2\u9023\u306b\u3064\u3044\u3066\u8a73\u8ff0\u3057\u305f\u30ec\u30d3\u30e5\u30fc\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Holder, J.L. Jr., et al.<\/strong> (2000). <em>SIM1 gene deletion in a patient with a Prader-Willi-like phenotype.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bSIM1\u907a\u4f1d\u5b50\u6b20\u5931\u304cPWS\u69d8\u8868\u73fe\u578b\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u3092\u793a\u5506\u3057\u305f\u521d\u671f\u306e\u75c7\u4f8b\u5831\u544a\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>6q16 deletions and Prader-Willi-like syndrome<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u98df\u4e8b\u7ba1\u7406\u306e\u91cd\u8981\u6027\u3001PWS\u3068\u306e\u9055\u3044\u3001\u767a\u9054\u652f\u63f4\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u306a\u3069\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Orphanet<\/strong>: <em>6q16 microdeletion syndrome<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306b\u304a\u3051\u308b\u75be\u60a3\u5b9a\u7fa9\u3068\u75ab\u5b66\u60c5\u5831\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-17114","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\/17114","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":3,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17114\/revisions"}],"predecessor-version":[{"id":17601,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17114\/revisions\/17601"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17114"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}