{"id":17164,"date":"2026-01-21T07:36:21","date_gmt":"2026-01-21T07:36:21","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17164"},"modified":"2026-01-21T07:36:21","modified_gmt":"2026-01-21T07:36:21","slug":"7q36-3-duplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/7q36-3-duplication-syndrome\/","title":{"rendered":"7q36.3 duplication 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>7q36.3\u91cd\u8907\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>7q36.3\u5fae\u7d30\u91cd\u8907\u75c7\u5019\u7fa4\uff087q36.3 microduplication syndrome\uff09<\/li>\n\n\n\n<li>7q36.3\u30c8\u30ea\u30bd\u30df\u30fc\uff08Trisomy 7q36.3\uff09<\/li>\n\n\n\n<li>7q\u672b\u7aef\u91cd\u8907\u75c7\u5019\u7fa4\uff08Distal 7q duplication syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b7q36.3\u3092\u542b\u3080\u3001\u3088\u308a\u5e83\u7bc4\u56f2\u306a\u672b\u7aef\u91cd\u8907\u306e\u5834\u5408\u306b\u4f7f\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>SHH\u91cd\u8907\u75c7\u5019\u7fa4\uff08SHH duplication syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u75c7\u72b6\u306e\u4e3b\u539f\u56e0\u304c<em>SHH<\/em>\u907a\u4f1d\u5b50\u306e\u91cd\u8907\u3067\u3042\u308b\u5834\u5408\u3001\u3053\u3046\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>ZRS\u91cd\u8907\u95a2\u9023\u591a\u6307\u75c7\uff08ZRS duplication-associated polydactyly\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u305d\u306e\u30b9\u30a4\u30c3\u30c1\u90e8\u5206\uff08ZRS\uff09\u306e\u91cd\u8907\u304c\u539f\u56e0\u306e\u5834\u5408\u306e\u540d\u79f0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u4e09\u7bc0\u6bcd\u6307-\u591a\u6307\u5408\u6307\u75c7\u5019\u7fa4\uff08Triphalangeal thumb-polysyndactyly syndrome; TPTPS\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b7q36.3\u91cd\u8907\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u4ee3\u8868\u7684\u306a\u81e8\u5e8a\u50cf\uff08\u8868\u73fe\u578b\uff09\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u30f4\u30a7\u30eb\u30ca\u30fc\uff08\u30ef\u30fc\u30ca\u30fc\uff09\u4e2d\u80a2\u7570\u5f62\u6210\u75c7\uff08Werner mesomelic syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u811b\u9aa8\uff08\u3059\u306d\u306e\u9aa8\uff09\u306e\u5f62\u6210\u4e0d\u5168\u3068\u591a\u6307\u75c7\u3092\u4f34\u3046\u75be\u60a3\u3067\u30017q36.3\u9818\u57df\u306e\u91cd\u8907\u5909\u7570\u304c\u539f\u56e0\u306e\u4e00\u3064\u3067\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>7\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0936.3\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e7\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u6700\u3082\u7aef\uff08\u30c6\u30ed\u30e1\u30a2\u5074\uff09\u306b\u4f4d\u7f6e\u3059\u308b\u300c36.3\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u91cd\u8907\uff08\u30b3\u30d4\u30fc\u6570\u304c\u901a\u5e38\u306e2\u672c\u304b\u30893\u672c\u306b\u5897\u52a0\uff09\u3059\u308b\u3053\u3068\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>7q36.3\u9818\u57df\u306f\u3001\u67d3\u8272\u4f53\u306e\u7aef\u3063\u3053\u306b\u4f4d\u7f6e\u3059\u308b\u975e\u5e38\u306b\u91cd\u8981\u306a\u9818\u57df\u3067\u3059\u3002\u3053\u3053\u306b\u306f\u3001\u80ce\u5150\u671f\u306e\u4f53\u306e\u5f62\u6210\u3001\u7279\u306b\u300c\u624b\u8db3\u306e\u6307\u306e\u6570\u300d\u3084\u300c\u8133\u306e\u5de6\u53f3\u300d\u3092\u6c7a\u3081\u308b\u305f\u3081\u306e\u30de\u30b9\u30bf\u30fc\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u6700\u91cd\u8981\u907a\u4f1d\u5b50\uff1aSHH (Sonic Hedgehog)\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u3092\u7406\u89e3\u3059\u308b\u4e0a\u3067\u3001\u6700\u3082\u91cd\u8981\u306a\u306e\u304cSHH\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> <em>SHH<\/em>\u306f\u3001\u300c\u30bd\u30cb\u30c3\u30af\u30fb\u30d8\u30c3\u30b8\u30db\u30c3\u30b0\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u767a\u751f\u521d\u671f\u306e\u624b\u8db3\u306e\u82bd\uff08\u80a2\u82bd\uff09\u306b\u304a\u3044\u3066\u3001\u300c\u3053\u3061\u3089\u304c\u5c0f\u6307\u5074\u3001\u3053\u3061\u3089\u304c\u89aa\u6307\u5074\u300d\u3068\u3044\u3046\u4f4d\u7f6e\u60c5\u5831\u3092\u7d30\u80de\u306b\u6559\u3048\u308b\u30b7\u30b0\u30ca\u30eb\u5206\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>ZRS (Zone of polarizing activity Regulatory Sequence):<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>SHH<\/em>\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u8abf\u7bc0\u3059\u308b\u30b9\u30a4\u30c3\u30c1\uff08\u30a8\u30f3\u30cf\u30f3\u30b5\u30fc\uff09\u3067\u3059\u3002\u5b9f\u306f<em>SHH<\/em>\u907a\u4f1d\u5b50\u672c\u4f53\u304b\u3089\u7d041Mb\uff08\u30e1\u30ac\u30d9\u30fc\u30b9\uff09\u3082\u96e2\u308c\u305f\u3001\u96a3\u306e<em>LMBR1<\/em>\u907a\u4f1d\u5b50\u306e\u4e2d\u306b\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u91cd\u8907\u306e\u5f71\u97ff:<\/strong>\n<ul class=\"wp-block-list\">\n<li>7q36.3\u9818\u57df\u306e\u91cd\u8907\u306b\u3088\u308a\u3001<em>SHH<\/em>\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u3001\u3042\u308b\u3044\u306f\u3053\u306e\u30b9\u30a4\u30c3\u30c1\uff08ZRS\uff09\u304c\u5897\u3048\u308b\u3068\u3001SHH\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u904e\u5270\u306b\u3001\u3042\u308b\u3044\u306f\u672c\u6765\u51fa\u308b\u3079\u304d\u3067\u306f\u306a\u3044\u5834\u6240\uff08\u89aa\u6307\u5074\u306a\u3069\uff09\u3067\u5206\u6ccc\u3055\u308c\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306b\u3088\u308a\u3001\u300c\u6307\u3092\u4f5c\u308b\u6307\u4ee4\u300d\u304c\u904e\u5270\u306b\u306a\u308a\u3001**\u591a\u6307\u75c7\uff08\u6307\u304c\u5897\u3048\u308b\uff09**\u306a\u3069\u306e\u9aa8\u683c\u7570\u5e38\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u91cd\u8907\u7bc4\u56f2\u304c\u5e83\u304f\u3001<em>SHH<\/em>\u4ee5\u5916\u306e\u96a3\u63a5\u907a\u4f1d\u5b50\uff08<em>EN2<\/em>, <em>MNX1<\/em>\u306a\u3069\uff09\u3082\u542b\u307e\u308c\u308b\u5834\u5408\u306f\u3001\u9aa8\u683c\u7570\u5e38\u3060\u3051\u3067\u306a\u304f\u3001\u767a\u9054\u9045\u6ede\u3084\u305d\u306e\u4ed6\u306e\u7279\u5fb4\u304c\u73fe\u308c\u308b\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\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>7q\u672b\u7aef\u306e\u91cd\u8907\u306f\u3001\u67d3\u8272\u4f53\u7570\u5e38\u306e\u4e2d\u3067\u306f\u6bd4\u8f03\u7684\u7a00\u306a\u90e8\u985e\u306b\u5165\u308a\u307e\u3059\u3002\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\u306b\u306f\u300c\u8a3a\u65ad\u30d0\u30a4\u30a2\u30b9\u300d\u304c\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8efd\u75c7\u4f8b\u306e\u898b\u9003\u3057:<\/strong> \u77e5\u7684\u969c\u5bb3\u3092\u4f34\u308f\u305a\u3001\u624b\u8db3\u306e\u591a\u6307\u75c7\u3060\u3051\u306e\u60a3\u8005\u3055\u3093\u306e\u5834\u5408\u3001\u6574\u5f62\u5916\u79d1\u7684\u306a\u6cbb\u7642\u3060\u3051\u3067\u7d42\u4e86\u3057\u3001\u67d3\u8272\u4f53\u691c\u67fb\u307e\u3067\u884c\u308f\u308c\u306a\u3044\uff08\u5358\u767a\u306e\u591a\u6307\u75c7\u3068\u3057\u3066\u6271\u308f\u308c\u308b\uff09\u30b1\u30fc\u30b9\u304c\u76f8\u5f53\u6570\u3042\u308b\u3068\u63a8\u6e2c\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5bb6\u65cf\u5185\u767a\u75c7: \u89aa\u5b50\u3067\u540c\u3058\u591a\u6307\u75c7\u3092\u6301\u3063\u3066\u3044\u308b\u5bb6\u7cfb\u306e\u4e2d\u306b\u3001\u5b9f\u306f\u3053\u306e7q36.3\u91cd\u8907\u304c\u96a0\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<br>\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<\/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>7q36.3 duplication syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u624b\u8db3\u306e\u9aa8\u683c\u7570\u5e38\uff08\u591a\u6307\u30fb\u5408\u6307\uff09\u300d**\u304c\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u8907\u3059\u308b\u7bc4\u56f2\u306e\u5927\u304d\u3055\u306b\u3088\u3063\u3066\u3001\u77e5\u7684\u306a\u767a\u9054\u306b\u5f71\u97ff\u304c\u51fa\u308b\u5834\u5408\u3068\u3001\u5168\u304f\u51fa\u306a\u3044\uff08\u77e5\u80fd\u6b63\u5e38\uff09\u5834\u5408\u306b\u5206\u304b\u308c\u308b\u306e\u304c\u5927\u304d\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u624b\u8db3\u30fb\u56db\u80a2\u306e\u7570\u5e38\uff08Limb anomalies\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u3055\u3093\u306e\u307b\u307c\u5168\u54e1\u306b\u898b\u3089\u308c\u308b\u3001\u6700\u3082\u9855\u8457\u306a\u30b5\u30a4\u30f3\u3067\u3059\u3002SHH\u30b7\u30b0\u30ca\u30eb\u306e\u904e\u5270\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u591a\u6307\u75c7\uff08Polydactyly\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u3084\u8db3\u306e\u6307\u304c6\u672c\u4ee5\u4e0a\u3042\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8ef8\u524d\u6027\u591a\u6307\u75c7\uff08Preaxial polydactyly\uff09\uff1a<\/strong> \u89aa\u6307\u5074\uff08\u6a48\u5074\uff09\u306b\u4f59\u5206\u306a\u6307\u304c\u3067\u304d\u308b\u30bf\u30a4\u30d7\u304c\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u89aa\u6307\u304c2\u672c\u3042\u308b\u3088\u3046\u306b\u898b\u3048\u305f\u308a\u3001\u89aa\u6307\u306e\u6a2a\u306b\u5c0f\u3055\u306a\u6307\u304c\u3042\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5408\u6307\u75c7\uff08Syndactyly\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6307\u3068\u6307\u306e\u9593\u304c\u76ae\u819a\u3084\u9aa8\u3067\u304f\u3063\u3064\u3044\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002\u591a\u6307\u3068\u5408\u4f75\u3057\u3066\u300c\u591a\u5408\u6307\u75c7\u300d\u3068\u306a\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e09\u7bc0\u6bcd\u6307\uff08Triphalangeal thumb\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u901a\u5e38\u3001\u89aa\u6307\u306e\u9aa8\u306f2\u672c\uff08\u57fa\u7bc0\u9aa8\u3068\u672b\u7bc0\u9aa8\uff09\u3067\u3059\u304c\u3001\u6307\u306e\u3088\u3046\u306a3\u672c\u306e\u9aa8\u3092\u6301\u3064\u9577\u304f\u3066\u7d30\u3044\u89aa\u6307\u306b\u306a\u308b\u3053\u3068\u3067\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u89aa\u6307\u304c\u4ed6\u306e\u6307\u3068\u540c\u3058\u3088\u3046\u306b\u898b\u3048\u305f\u308a\u3001\u63e1\u308a\u306b\u304f\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Werner mesomelic syndrome\u69d8\u306e\u7279\u5fb4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u91cd\u75c7\u4f8b\u3067\u306f\u3001\u811b\u9aa8\uff08\u3059\u306d\u306e\u592a\u3044\u9aa8\uff09\u306e\u5f62\u6210\u4e0d\u5168\u3084\u3001\u624b\u8db3\u306e\u6b20\u640d\u306a\u3069\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u982d\u84cb\u9854\u9762\u306e\u7279\u5fb4\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>7q36\u6b20\u5931\uff08\u30e2\u30ce\u30bd\u30df\u30fc\uff09\u304c\u300c\u5c0f\u982d\u75c7\u300d\u3084\u300c\u5168\u524d\u8133\u80de\u75c7\uff08\u76ee\u304c\u5bc4\u308b\uff09\u300d\u3092\u5f15\u304d\u8d77\u3053\u3059\u306e\u306b\u5bfe\u3057\u3001\u91cd\u8907\uff08\u30c8\u30ea\u30bd\u30df\u30fc\uff09\u3067\u306f**\u300c\u9006\u300d**\u306e\u7279\u5fb4\u304c\u73fe\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\uff08\u93e1\u50cf\u95a2\u4fc2\uff09\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\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>\u773c\u9593\u958b\u96e2\uff08Hypertelorism\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u76ee\u3068\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9f3b\u6839\u90e8\u304c\u5e83\u3044\u3001\u5e73\u5766\u306a\u9f3b\u3001\u8033\u306e\u4f4d\u7f6e\u3084\u5f62\u306e\u7570\u5e38\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u9854\u8c8c\u306e\u7279\u5fb4\u306f\u30de\u30a4\u30eb\u30c9\u306a\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u3053\u3053\u304c\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<strong>\u500b\u4eba\u5dee\u304c\u975e\u5e38\u306b\u5927\u304d\u3044\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u80fd\u6b63\u5e38\uff08Normal Intelligence\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u91cd\u8907\u304c<em>SHH<\/em>\u907a\u4f1d\u5b50\u3084ZRS\u9818\u57df\u5468\u8fba\u306b\u9650\u5c40\u3057\u3066\u3044\u308b\u5834\u5408\uff08\u5fae\u7d30\u91cd\u8907\uff09\u3001<strong>\u77e5\u7684\u767a\u9054\u306f\u5b8c\u5168\u306b\u6b63\u5e38<\/strong>\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u75c7\u72b6\u306f\u624b\u8db3\u306e\u591a\u6307\u75c7\u306e\u307f\u3067\u3042\u308a\u3001\u624b\u8853\u3067\u6cbb\u7642\u3059\u308c\u3070\u901a\u5e38\u306e\u793e\u4f1a\u751f\u6d3b\u306b\u5168\u304f\u652f\u969c\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u6ede\uff08DD\uff09 \/ \u77e5\u7684\u969c\u5bb3\uff08ID\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u91cd\u8907\u7bc4\u56f2\u304c\u5e83\u304f\u3001\u3055\u3089\u306b\u5185\u5074\u306e\u907a\u4f1d\u5b50\u307e\u3067\u542b\u3093\u3067\u3044\u308b\u5834\u5408\uff08\u7d041Mb\u4ee5\u4e0a\u306a\u3069\uff09\u3001\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3084\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u9045\u308c\u3084\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3066\u3093\u304b\u3093\u767a\u4f5c\u3092\u5408\u4f75\u3059\u308b\u30b1\u30fc\u30b9\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\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>\u91cd\u7be4\u306a\u5185\u81d3\u5947\u5f62\uff08\u5fc3\u75be\u60a3\u3084\u814e\u75be\u60a3\uff09\u306e\u5408\u4f75\u7387\u306f\u3001\u4ed6\u306e\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u5019\u7fa4\u306b\u6bd4\u3079\u308b\u3068\u4f4e\u3044\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u304c\u3001\u5ff5\u306e\u305f\u3081\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306f\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>7\u756a\u67d3\u8272\u4f53\u9577\u8155\u672b\u7aef\uff087q36.3\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u91cd\u8907<\/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>\u4e21\u89aa\u306f\u6b63\u5e38\u3067\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\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><strong>\u89aa\u304b\u3089\u306e\u907a\u4f1d<\/strong>\u3067\u3042\u308b\u30b1\u30fc\u30b9\u304c\u983b\u7e41\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u300c\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d\u300d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u81ea\u8eab\u3082\u591a\u6307\u75c7\u306e\u624b\u8853\u75d5\u304c\u3042\u3063\u305f\u308a\u3001\u89aa\u6307\u304c\u5c11\u3057\u5909\u308f\u3063\u305f\u5f62\u3092\u3057\u3066\u3044\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u5b50\u306b\u907a\u4f1d\u3059\u308b\u78ba\u7387\u306f50%\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8868\u73fe\u578b\u306e\u5dee\u7570\uff08Variable Expressivity\uff09\uff1a<\/strong> \u540c\u3058\u91cd\u8907\u3092\u6301\u3064\u89aa\u5b50\u3067\u3082\u3001\u89aa\u306f\u300c\u89aa\u6307\u304c\u592a\u3044\u3060\u3051\u300d\u3067\u3001\u5b50\u306f\u300c\u5b8c\u5168\u306a\u591a\u6307\u75c7\u300d\u3067\u3042\u308b\u306a\u3069\u3001\u75c7\u72b6\u306e\u51fa\u65b9\u306b\u5dee\u304c\u3042\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u30a8\u30f3\u30cf\u30f3\u30b5\u30fc\u75c5\u3068\u3057\u3066\u306e\u30e1\u30ab\u30cb\u30ba\u30e0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u907a\u4f1d\u6027\u75be\u60a3\u306f\u3001\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u304c\u58ca\u308c\u308b\u3053\u3068\u3067\u8d77\u304d\u307e\u3059\u304c\u3001\u3053\u306e\u75be\u60a3\uff08\u7279\u306b\u591a\u6307\u75c7\u306e\u307f\u306e\u30bf\u30a4\u30d7\uff09\u306f\u3001\u907a\u4f1d\u5b50\u306e**\u300c\u8abf\u7bc0\u30b9\u30a4\u30c3\u30c1\uff08\u30a8\u30f3\u30cf\u30f3\u30b5\u30fc\uff09\u300d**\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u8d77\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>7q36.3\u306b\u3042\u308b<em>ZRS<\/em>\u3068\u3044\u3046\u30b9\u30a4\u30c3\u30c1\u914d\u5217\u304c\u91cd\u8907\u3059\u308b\u3068\u3001\u672c\u6765\u306f\u6307\u4f5c\u308a\u304c\u7d42\u308f\u3063\u3066\u30b9\u30a4\u30c3\u30c1\u304c\u5207\u308c\u308b\u306f\u305a\u306e\u30bf\u30a4\u30df\u30f3\u30b0\u3084\u5834\u6240\u3067\u3001\u52dd\u624b\u306b<em>SHH<\/em>\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u304c\u5165\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u305d\u306e\u7d50\u679c\u3001\u6307\u3092\u4f5c\u308b\u6307\u4ee4\u304c\u51fa\u7d9a\u3051\u3001\u4f59\u5206\u306a\u6307\u304c\u5f62\u6210\u3055\u308c\u307e\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\u591a\u6307\u75c7\u300d\u300c\u5408\u6307\u75c7\u300d\u306a\u3069\u306e\u9aa8\u683c\u7570\u5e38\u304c\u3042\u308a\u3001\u5bb6\u65cf\u6b74\u3084\u305d\u306e\u4ed6\u306e\u7279\u5fb4\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30ec\u30f3\u30c8\u30b2\u30f3\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u8db3\u306e\u9aa8\u306e\u69cb\u9020\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u591a\u6307\u306e\u7a2e\u985e\uff08\u8ef8\u524d\u6027\u304b\u8ef8\u5f8c\u6027\u304b\uff09\u3084\u3001\u4e09\u7bc0\u6bcd\u6307\u306e\u6709\u7121\u306a\u3069\u3092\u8a73\u7d30\u306b\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\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>7q36.3\u9818\u57df\u306e\u91cd\u8907\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\uff08bp\u5358\u4f4d\uff09\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u8981:<\/strong> \u91cd\u8907\u306e\u7bc4\u56f2\u3092\u77e5\u308b\u3053\u3068\u3067\u3001\u300c\u591a\u6307\u75c7\u3060\u3051\u306e\u30bf\u30a4\u30d7\uff08SHH\u5468\u8fba\u306e\u307f\uff09\u300d\u306a\u306e\u304b\u3001\u300c\u767a\u9054\u9045\u6ede\u306e\u30ea\u30b9\u30af\u304c\u3042\u308b\u30bf\u30a4\u30d7\uff08\u5e83\u7bc4\u56f2\uff09\u300d\u306a\u306e\u304b\u3092\u3042\u308b\u7a0b\u5ea6\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e21\u89aa\u306e\u89e3\u6790:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5bb6\u65cf\u6027\u304b\u3069\u3046\u304b\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u3001\u4e21\u89aa\u306e\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001\u89aa\u306b\u8efd\u5fae\u306a\u75c7\u72b6\u3057\u304b\u306a\u3044\u5834\u5408\u3082\u3042\u308b\u305f\u3081\u3001\u614e\u91cd\u306a\u8a3a\u5bdf\u3068\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u5fc5\u8981\u3067\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>\u91cd\u8907\u3057\u305f\u67d3\u8272\u4f53\u3092\u5143\u306b\u623b\u3059\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u624b\u8db3\u306e\u5f62\u614b\u7570\u5e38\u306b\u5bfe\u3059\u308b\u5f62\u6210\u5916\u79d1\u7684\u6cbb\u7642\u3068\u3001\u767a\u9054\u306e\u72b6\u614b\u306b\u5fdc\u3058\u305f\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u624b\u8db3\u306e\u6cbb\u7642\uff08\u5f62\u6210\u5916\u79d1\u30fb\u6574\u5f62\u5916\u79d1\uff09<\/strong><\/p>\n\n\n\n<p><strong>\u6700\u3082\u4e3b\u8981\u306a\u6cbb\u7642\u3067\u3059\u3002<\/strong> \u6a5f\u80fd\u3068\u898b\u305f\u76ee\u306e\u4e21\u65b9\u3092\u6539\u5584\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u591a\u6307\u75c7\u306e\u624b\u8853:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f59\u5206\u306a\u6307\u3092\u5207\u9664\u3057\u3001\u6b8b\u3063\u305f\u6307\u306e\u5f62\u3084\u6a5f\u80fd\u3092\u6574\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6642\u671f:<\/strong> \u624b\u306e\u6a5f\u80fd\u767a\u9054\u3084\u9ebb\u9154\u306e\u5b89\u5168\u6027\u3092\u8003\u616e\u3057\u3001\u4e00\u822c\u7684\u306b\u306f<strong>1\u6b73\u524d\u5f8c<\/strong>\u306b\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u6307\u306e\u72b6\u614b\uff08\u9aa8\u304c\u3064\u306a\u304c\u3063\u3066\u3044\u308b\u304b\u3001\u76ae\u3060\u3051\u304b\uff09\u306b\u3088\u3063\u3066\u9069\u5207\u306a\u6642\u671f\u306f\u7570\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8db3\u306e\u591a\u6307\u75c7\u306e\u5834\u5408\u306f\u3001\u9774\u304c\u5c65\u3051\u308b\u3088\u3046\u306b\u3059\u308b\u3053\u3068\u3092\u76ee\u7684\u306b\u3001\u6b69\u884c\u958b\u59cb\u524d\u306b\u884c\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5408\u6307\u75c7\u306e\u5206\u96e2\u624b\u8853:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u304f\u3063\u3064\u3044\u3066\u3044\u308b\u6307\u3092\u5207\u308a\u96e2\u3057\u3001\u6307\u306e\u9593\uff08\u6307\u9593\uff09\u3092\u5f62\u6210\u3057\u307e\u3059\u3002\u76ae\u819a\u79fb\u690d\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e09\u7bc0\u6bcd\u6307\u306e\u6cbb\u7642:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u6307\u304c\u9577\u3059\u304e\u3066\u5bfe\u7acb\u904b\u52d5\uff08\u3064\u307e\u3080\u52d5\u4f5c\uff09\u304c\u3057\u306b\u304f\u3044\u5834\u5408\u3001\u9aa8\u3092\u77ed\u304f\u3057\u305f\u308a\u95a2\u7bc0\u3092\u56fa\u5b9a\u3057\u305f\u308a\u3059\u308b\u624b\u8853\u304c\u884c\u308f\u308c\u308b\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>\u767a\u9054\u8a55\u4fa1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u6642\u306b\u767a\u9054\u691c\u67fb\u3092\u884c\u3044\u3001\u767a\u9054\u9045\u6ede\u306e\u30ea\u30b9\u30af\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7642\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u306e\u9045\u308c\u304c\u3042\u308b\u5834\u5408\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b\u624b\u306e\u8853\u5f8c\u306f\u3001\u4f5c\u696d\u7642\u6cd5\u58eb\uff08OT\uff09\u306b\u3088\u308b\u624b\u6307\u306e\u6a5f\u80fd\u8a13\u7df4\uff08\u30ea\u30cf\u30d3\u30ea\uff09\u304c\u91cd\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5065\u5eb7\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b9a\u671f\u691c\u8a3a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u982d\u56f2\u306e\u6e2c\u5b9a\uff08\u5927\u982d\u75c7\u306e\u30c1\u30a7\u30c3\u30af\uff09\u3084\u3001\u4e00\u822c\u7684\u306a\u8eab\u4f53\u767a\u80b2\u306e\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\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>\u60c5\u5831\u306e\u6574\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u300c\u67d3\u8272\u4f53\u7570\u5e38\u300d\u3068\u3044\u3046\u8a3a\u65ad\u306b\u30b7\u30e7\u30c3\u30af\u3092\u53d7\u3051\u308b\u3054\u5bb6\u65cf\u3082\u591a\u3044\u3067\u3059\u304c\u3001\u3053\u306e\u75be\u60a3\uff08\u7279\u306b\u5fae\u7d30\u91cd\u8907\uff09\u306f\u3001\u77e5\u7684\u306a\u9045\u308c\u3092\u4f34\u308f\u306a\u3044\u30b1\u30fc\u30b9\u3082\u591a\u304f\u3001\u305d\u306e\u5834\u5408\u306f\u300c\u9aa8\u683c\u306e\u4f53\u8cea\u300d\u306b\u8fd1\u3044\u3082\u306e\u3067\u3042\u308b\u3053\u3068\u3092\u8aac\u660e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6b21\u5b50\u30ea\u30b9\u30af:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5bb6\u65cf\u6027\u306e\u5834\u5408\u300150%\u306e\u78ba\u7387\u3067\u907a\u4f1d\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u75c7\u72b6\u306e\u7a0b\u5ea6\u306f\u4e88\u6e2c\u3067\u304d\u306a\u3044\u3053\u3068\u306a\u3069\u3092\u8a71\u3057\u5408\u3044\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>7q36.3 duplication syndrome\u306f\u30017\u756a\u67d3\u8272\u4f53\u306e\u7aef\u3063\u3053\u3001\u7279\u306b\u4f53\u306e\u5f62\u4f5c\u308a\u3092\u6307\u4ee4\u3059\u308b\u300cSHH\u907a\u4f1d\u5b50\u300d\u306e\u90e8\u5206\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001\u624b\u3084\u8db3\u306e\u6307\u304c\u591a\u304b\u3063\u305f\u308a\u3001\u89aa\u6307\u306e\u5f62\u304c\u5c11\u3057\u9055\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u751f\u307e\u308c\u305f\u3070\u304b\u308a\u306e\u8d64\u3061\u3083\u3093\u306e\u624b\u8db3\u3092\u898b\u3066\u9a5a\u304b\u308c\u305f\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u3053\u308c\u306f\u304a\u6bcd\u3055\u3093\u306e\u304a\u8179\u306e\u4e2d\u3067\u3001\u6307\u3092\u4f5c\u308b\u6307\u4ee4\u304c\u5c11\u3057\u3060\u3051\u5f35\u308a\u5207\u3063\u3066\u51fa\u904e\u304e\u3066\u3057\u307e\u3063\u305f\u305f\u3081\u306b\u8d77\u3053\u3063\u305f\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u304c\u4e00\u756a\u5fc3\u914d\u3055\u308c\u308b\u300c\u8133\u3078\u306e\u5f71\u97ff\u300d\u3084\u300c\u767a\u9054\u306e\u9045\u308c\u300d\u306b\u3064\u3044\u3066\u3067\u3059\u304c\u3001\u3053\u306e\u91cd\u8907\u304cSHH\u907a\u4f1d\u5b50\u306e\u5468\u308a\u3060\u3051\u306b\u9650\u3089\u308c\u3066\u3044\u308b\u5834\u5408\u3001\u77e5\u7684\u306a\u767a\u9054\u306f\u5168\u304f\u6b63\u5e38\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u305d\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u3093\u306f\u624b\u8853\u3067\u624b\u8db3\u3092\u304d\u308c\u3044\u306b\u6cbb\u305b\u3070\u3001\u4ed6\u306e\u304a\u5b50\u3055\u3093\u3068\u5168\u304f\u5909\u308f\u3089\u306a\u3044\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3082\u3057\u91cd\u8907\u306e\u7bc4\u56f2\u304c\u5e83\u304f\u3001\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u3067\u3082\u3001\u7642\u80b2\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u305d\u306e\u5b50\u306a\u308a\u306e\u30da\u30fc\u30b9\u3067\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u3053\u306e\u300c\u6307\u304c\u591a\u3044\u300d\u3068\u3044\u3046\u7279\u5fb4\u306f\u3001\u5b9f\u306f\u89aa\u5fa1\u3055\u3093\u3084\u304a\u3058\u3044\u3061\u3083\u3093\u304a\u3070\u3042\u3061\u3083\u3093\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u3066\u3044\u308b\u300c\u5bb6\u7cfb\u306e\u4f53\u8cea\u300d\u3067\u3042\u308b\u3053\u3068\u3082\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u624b\u8db3\u306e\u624b\u8853\u306f\u3001\u5f62\u6210\u5916\u79d1\u306e\u5c02\u9580\u533b\u306b\u3088\u3063\u3066\u975e\u5e38\u306b\u304d\u308c\u3044\u306b\u6cbb\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u624b\u8853\u306e\u6642\u671f\u3084\u65b9\u6cd5\u306f\u3001\u624b\u306e\u6a5f\u80fd\u306e\u767a\u9054\u306b\u5408\u308f\u305b\u3066\u8a08\u753b\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u67d3\u8272\u4f53\u7570\u5e38\u3068\u3044\u3046\u8a00\u8449\u306b\u7e1b\u3089\u308c\u3059\u304e\u305a\u3001\u6574\u5f62\u5916\u79d1\u533b\u3001\u5c0f\u5150\u79d1\u533b\u3001\u305d\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u3001\u304a\u5b50\u3055\u3093\u306e\u53ef\u611b\u3044\u624b\u8db3\u3068\u5065\u3084\u304b\u306a\u6210\u9577\u3092\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>Sun, M., et al.<\/strong> (2008). <em>Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia.<\/em> (\u203bZRS\u91cd\u8907\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u89e3\u660e\u306b\u95a2\u9023\u3059\u308b\u57fa\u790e\u7814\u7a76\u3060\u304c\u30017q36.3\u306eSHH\u5236\u5fa1\u9818\u57df\u306e\u91cd\u8981\u6027\u3092\u793a\u5506\u3059\u308b\u6587\u8108\u3067\u5f15\u7528\u3055\u308c\u308b\u91cd\u8981\u6587\u732e\u3002)<\/li>\n\n\n\n<li><strong>Petit, F., et al.<\/strong> (2016). <em>Split-Hand\/Foot Malformation with Long Bone Deficiency and BHLHA9 Duplications: Report of 13 New Families.<\/em> (\u203b\u56db\u80a2\u5f62\u6210\u7570\u5e38\u3068CNV\u306e\u95a2\u9023\u3092\u6271\u3063\u305f\u8ad6\u6587\u30027q36\u91cd\u8907\uff08SHH\u91cd\u8907\uff09\u304c\u5f15\u304d\u8d77\u3053\u3059\u591a\u6307\u75c7\uff08TPTPS\uff09\u3068\u306e\u9451\u5225\u3084\u30e1\u30ab\u30cb\u30ba\u30e0\u306e\u985e\u4f3c\u6027\u306b\u3064\u3044\u3066\u8a00\u53ca\u3002)<\/li>\n\n\n\n<li><strong>Klopocki, E., et al.<\/strong> (2008). <em>Duplications of the regulatory region of the SHH gene are recurrent causes of triphalangeal thumb-polysyndactyly syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b7q36.3\u306b\u3042\u308bSHH\u907a\u4f1d\u5b50\u306e\u8abf\u7bc0\u9818\u57df\uff08ZRS\uff09\u306e\u5fae\u7d30\u91cd\u8907\u304c\u3001\u4e09\u7bc0\u6bcd\u6307-\u591a\u6307\u5408\u6307\u75c7\u5019\u7fa4\uff08TPTPS\uff09\u306e\u4e3b\u8981\u306a\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u7a81\u304d\u6b62\u3081\u305f\u3001\u672c\u75be\u60a3\u306b\u304a\u3051\u308b\u6700\u3082\u91cd\u8981\u306a\u539f\u8457\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Wieczorek, D., et al.<\/strong> (2010). <em>A 7q36 microduplication including SHH causes triphalangeal thumb-polysyndactyly syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bSHH\u907a\u4f1d\u5b50\u3092\u542b\u30807q36\u5fae\u7d30\u91cd\u8907\u306e\u75c7\u4f8b\u3092\u5831\u544a\u3057\u3001\u8868\u73fe\u578b\uff08\u591a\u6307\u75c7\u306a\u3069\uff09\u3068\u907a\u4f1d\u5b50\u578b\u306e\u95a2\u9023\u3092\u8a73\u7d30\u306b\u8a18\u8ff0\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>7q duplications<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u30017q\u672b\u7aef\u91cd\u8907\u306e\u7279\u5fb4\u3001\u591a\u6307\u75c7\u306e\u624b\u8853\u3001\u767a\u9054\u306e\u30d0\u30ea\u30a8\u30fc\u30b7\u30e7\u30f3\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>Limb Malformations and Skeletal Dysplasias Caused by SHH Pathway Defects<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203bSHH\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u306e\u7570\u5e38\u306b\u3088\u308b\u56db\u80a2\u5947\u5f62\u306e\u7dcf\u8aac\u3002ZRS\u91cd\u8907\u306b\u3088\u308b\u591a\u6307\u75c7\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3084\u7ba1\u7406\u6307\u91dd\u306b\u3064\u3044\u3066\u8a73\u8ff0\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> 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