{"id":17028,"date":"2026-01-21T05:13:06","date_gmt":"2026-01-21T05:13:06","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17028"},"modified":"2026-01-22T08:39:48","modified_gmt":"2026-01-22T08:39:48","slug":"2q37-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/2q37-deletion-syndrome\/","title":{"rendered":"2q37 deletion syndrome"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>2q37\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>2q37\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff082q37 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>2q37\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 2q37\uff09<\/li>\n\n\n\n<li>\u77ed\u6307\u30fb\u7cbe\u795e\u9045\u6ede\u75c7\u5019\u7fa4\uff08Brachydactyly-mental retardation syndrome; BDMR\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u6700\u3082\u4ee3\u8868\u7684\u306a\u75c7\u72b6\uff08\u6307\u306e\u77ed\u3055\u3068\u77e5\u7684\u969c\u5bb3\uff09\u3092\u8868\u3057\u305f\u5225\u540d\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u30aa\u30eb\u30d6\u30e9\u30a4\u30c8\u907a\u4f1d\u6027\u9aa8\u7570\u6804\u990a\u75c7\u69d8\u75c7\u5019\u7fa4\uff08Albright hereditary osteodystrophy-like syndrome; AHO-like syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u9854\u3064\u304d\u3084\u4f53\u578b\u3001\u77ed\u6307\u75c7\u306a\u3069\u306e\u7279\u5fb4\u304c\u300c\u507d\u6027\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\uff08AHO\uff09\u300d\u306b\u9177\u4f3c\u3057\u3066\u3044\u308b\u305f\u3081\u3053\u3046\u547c\u3070\u308c\u307e\u3059\u304c\u3001\u30db\u30eb\u30e2\u30f3\u7570\u5e38\uff08\u30ab\u30eb\u30b7\u30a6\u30e0\u5024\u306a\u3069\uff09\u306f\u4f34\u308f\u306a\u3044\u70b9\u304c\u7570\u306a\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>2\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0937\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e2\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u6700\u3082\u672b\u7aef\uff08\u30c6\u30ed\u30e1\u30a2\u5074\uff09\u306b\u4f4d\u7f6e\u3059\u308b\u300c37\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\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\u6700\u91cd\u8981\u907a\u4f1d\u5b50\uff1aHDAC4\u3011<\/p>\n\n\n\n<p>2q37\u9818\u57df\u306f\u3001\u3055\u3089\u306b37.1\u300137.2\u300137.3\u3068\u3044\u3046\u30b5\u30d6\u30d0\u30f3\u30c9\u306b\u5206\u304b\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b20\u5931\u306e\u30b5\u30a4\u30ba\u3084\u4f4d\u7f6e\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\uff08\u7279\u306b\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3068\u9aa8\u683c\u7570\u5e38\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u6c7a\u5b9a\u7684\u306a\u8981\u56e0\uff08\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\uff09\u306f\u30012q37.3\u9818\u57df\u306b\u542b\u307e\u308c\u308bHDAC4 (Histone Deacetylase 4) \u907a\u4f1d\u5b50\u306b\u3042\u308b\u3053\u3068\u304c\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>HDAC4\u907a\u4f1d\u5b50\u306e\u5f79\u5272\uff08\u8133\u3068\u9aa8\u306e\u53f8\u4ee4\u5854\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>HDAC4<\/em>\u306f\u3001\u300c\u30d2\u30b9\u30c8\u30f3\u8131\u30a2\u30bb\u30c1\u30eb\u5316\u9175\u7d20\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002\u3053\u308c\u306fDNA\u304c\u5dfb\u304d\u4ed8\u3044\u3066\u3044\u308b\u30d2\u30b9\u30c8\u30f3\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u69cb\u9020\u3092\u5909\u5316\u3055\u305b\u3001\u4ed6\u306e\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u30aa\u30d5\u306b\u3059\u308b\uff08\u8ee2\u5199\u6291\u5236\uff09\u5f79\u5272\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8133\u3078\u306e\u4f5c\u7528:<\/strong> \u8133\u306e\u795e\u7d4c\u7d30\u80de\uff08\u30cb\u30e5\u30fc\u30ed\u30f3\uff09\u306e\u767a\u9054\u3001\u30b7\u30ca\u30d7\u30b9\u306e\u53ef\u5851\u6027\u3001\u8a18\u61b6\u5f62\u6210\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u7fa4\u3092\u5236\u5fa1\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u3078\u306e\u4f5c\u7528:<\/strong> \u8edf\u9aa8\u7d30\u80de\u304c\u9aa8\u3078\u3068\u5909\u308f\u308b\u30d7\u30ed\u30bb\u30b9\uff08\u8edf\u9aa8\u5185\u9aa8\u5316\uff09\u3092\u5236\u5fa1\u3057\u3066\u304a\u308a\u3001\u9aa8\u306e\u6210\u9577\u3092\u9069\u5207\u306a\u30bf\u30a4\u30df\u30f3\u30b0\u3067\u6b62\u3081\u308b\u5f79\u5272\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30cf\u30d7\u30ed\u4e0d\u5168:<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u304c\u534a\u5206\uff08\u6b20\u5931\uff09\u306b\u306a\u308b\u3068\u3001\u8133\u306e\u767a\u9054\u30d7\u30ed\u30b0\u30e9\u30e0\u306b\u7570\u5e38\u304c\u751f\u3058\u3066\u300c\u77e5\u7684\u969c\u5bb3\u30fb\u81ea\u9589\u75c7\u300d\u306b\u306a\u308a\u3001\u9aa8\u306e\u5236\u5fa1\u304c\u52b9\u304b\u306a\u304f\u306a\u308b\u3053\u3068\u3067\u300c\u77ed\u6307\u75c7\u300d\u306a\u3069\u306e\u9aa8\u683c\u7570\u5e38\u304c\u751f\u3058\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\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>1989\u5e74\u306b\u521d\u3081\u3066\u5831\u544a\u3055\u308c\u3066\u4ee5\u6765\u3001\u4e16\u754c\u3067100\u4f8b\u4ee5\u4e0a\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5e0c\u5c11\u75be\u60a3\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u7279\u5fb4\u7684\u306a\u8eab\u4f53\u6240\u898b\uff08\u77ed\u6307\u75c7\u306a\u3069\uff09\u304c\u76ee\u7acb\u305f\u306a\u3044\u8efd\u75c7\u4f8b\u3084\u3001\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u3068\u3057\u3066\u8a3a\u65ad\u3055\u308c\u3066\u3044\u308b\u30b1\u30fc\u30b9\u306e\u4e2d\u306b\u3001\u672a\u8a3a\u65ad\u306e\u60a3\u8005\u3055\u3093\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u5b9f\u969b\u306e\u983b\u5ea6\u306f\u3082\u3046\u5c11\u3057\u9ad8\u3044\u3068\u63a8\u6e2c\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7537\u5973\u5dee\u306f\u306a\u304f\u3001\u6027\u5225\u306b\u95a2\u4fc2\u306a\u304f\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>2q37 deletion syndrome\u306e\u75c7\u72b6\u306f\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u304c\u3001**\u300c\u77ed\u6307\u75c7\u300d\u300c\u77e5\u7684\u969c\u5bb3\u300d\u300c\u884c\u52d5\u7279\u6027\uff08\u81ea\u9589\u50be\u5411\uff09\u300d\u300c\u80a5\u6e80\u300d**\u304c4\u5927\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u75c7\u72b6\u306f\u5e74\u9f62\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u3001\u4e73\u5e7c\u5150\u671f\u306f\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u5b66\u7ae5\u671f\u4ee5\u964d\u306f\u80a5\u6e80\u3084\u884c\u52d5\u306e\u554f\u984c\u304c\u76ee\u7acb\u3063\u3066\u304f\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u9aa8\u683c\u30fb\u56db\u80a2\u306e\u7279\u5fb4\uff08Brachydactyly type E\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e\u6700\u3082\u7279\u5fb4\u7684\u306a\u8eab\u4f53\u6240\u898b\u3067\u3042\u308a\u3001\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77ed\u6307\u75c7E\u578b\uff08Brachydactyly type E\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u8db3\u306e\u6307\u306e\u9aa8\uff08\u4e2d\u624b\u9aa8\u30fb\u4e2d\u8db3\u9aa8\uff09\u304c\u77ed\u304f\u306a\u308b\u30bf\u30a4\u30d7\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b**\u7b2c3\u6307\uff08\u4e2d\u6307\uff09\u3001\u7b2c4\u6307\uff08\u85ac\u6307\uff09\u3001\u7b2c5\u6307\uff08\u5c0f\u6307\uff09**\u304c\u77ed\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u624b\u3092\u63e1\u3063\u3066\u62f3\u3092\u4f5c\u3063\u305f\u6642\u306b\u3001\u672c\u6765\u3042\u308b\u306f\u305a\u306e\u62f3\u306e\u9aa8\uff08\u30ca\u30c3\u30af\u30eb\uff09\u304c\u51f9\u3093\u3067\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u75c7\u72b6\u306f\u3001\u4e73\u5e7c\u5150\u671f\u306b\u306f\u76ee\u7acb\u305f\u305a\u3001\u6210\u9577\u3068\u3068\u3082\u306b\uff082\u6b73\u4ee5\u964d\u301c\u5b66\u7ae5\u671f\uff09\u660e\u3089\u304b\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4f4e\u8eab\u9577\u30fb\u80a5\u6e80\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5e7c\u5150\u671f\u307e\u3067\u306f\u6b63\u5e38\u306a\u6210\u9577\u66f2\u7dda\u3092\u793a\u3059\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u5b66\u7ae5\u671f\u4ee5\u964d\u306b\u904e\u98df\u50be\u5411\u3084\u4ee3\u8b1d\u306e\u5909\u5316\u306b\u3088\u308a<strong>\u80a5\u6e80<\/strong>\u306b\u306a\u308b\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8eab\u9577\u306f\u5e73\u5747\u7684\u304b\u3001\u3084\u3084\u4f4e\u3081\u3068\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u9aa8\u683c\u7570\u5e38\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u810a\u67f1\u5074\u5f2f\u75c7\u3001\u95a2\u7bc0\u306e\u904e\u4f38\u5c55\uff08\u4f53\u304c\u67d4\u3089\u304b\u3044\uff09\u3001\u80a1\u95a2\u7bc0\u8131\u81fc\u306a\u3069\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\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\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\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u9045\u308c\uff08Speech delay\uff09\u304c\u9855\u8457\u3067\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u3082\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u54fa\u4e73\u529b\u304c\u5f31\u304b\u3063\u305f\u308a\u3001\u9996\u3059\u308f\u308a\u3084\u304a\u5ea7\u308a\u304c\u9045\u308c\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6210\u9577\u3068\u3068\u3082\u306b\u6539\u5584\u3057\u307e\u3059\u304c\u3001\u75b2\u308c\u3084\u3059\u3055\u3068\u3057\u3066\u6b8b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7279\u6027\uff08Autism Spectrum Disorder\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u60a3\u8005\u3055\u3093\u306e**\u7d0430\u301c50%**\u306bASD\u306e\u7279\u6027\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u793e\u4f1a\u7684\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u82e6\u624b\u3055\u3001\u53cd\u5fa9\u884c\u52d5\uff08\u5e38\u540c\u884c\u52d5\uff09\u3001\u3053\u3060\u308f\u308a\u3001\u611f\u899a\u904e\u654f\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>2q37\u6b20\u5931\u306f\u3001\u907a\u4f1d\u6027\u306e\u81ea\u9589\u75c7\u306e\u539f\u56e0\u3068\u3057\u3066\u3082\u91cd\u8981\u8996\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u305d\u306e\u4ed6\u306e\u884c\u52d5\u7279\u6027\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u3001\u653b\u6483\u6027\u3001\u81ea\u50b7\u884c\u70ba\u3001\u7761\u7720\u969c\u5bb3\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u660e\u308b\u304f\u4eba\u61d0\u3063\u3053\u3044\u6027\u683c\u3092\u6301\u3064\u304a\u5b50\u3055\u3093\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u300c\u30aa\u30eb\u30d6\u30e9\u30a4\u30c8\u9aa8\u7570\u6804\u990a\u75c7\u300d\u306b\u4f3c\u305f\u3001\u4e38\u9854\u3067\u611b\u3089\u3057\u3044\u7279\u5fb4\u3092\u6301\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e38\u3044\u9854\uff08Round face\uff09\u3002<\/li>\n\n\n\n<li>\u524d\u982d\u90e8\u7a81\u51fa\uff08\u304a\u3067\u3053\u304c\u5e83\u3044\uff09\u3002<\/li>\n\n\n\n<li>\u30a2\u30fc\u30c1\u72b6\u306e\u7709\u6bdb\u3001\u6fc3\u3044\u7709\u6bdb\u3002<\/li>\n\n\n\n<li>\u6df1\u304f\u304f\u307c\u3093\u3060\u76ee\uff08Deep-set eyes\uff09\u3002<\/li>\n\n\n\n<li>\u8584\u3044\u4e0a\u5507\u3001\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\uff09\u304c\u660e\u77ad\u3002<\/li>\n\n\n\n<li>\u8033\u306e\u5f62\u306e\u7279\u5fb4\uff08\u8033\u4ecb\u306e\u5909\u5f62\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<p>\u7d0420\u301c30%\u306e\u60a3\u8005\u3055\u3093\u306b\u5185\u81d3\u5947\u5f62\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u795e\u7d4c\u7cfb\uff1a<\/strong> \u3066\u3093\u304b\u3093\u767a\u4f5c\uff08\u7d0420\u301c35%\uff09\u3001\u8133\u6881\u306e\u4f4e\u5f62\u6210\u3001\u8133\u5ba4\u62e1\u5927\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3\uff1a<\/strong> \u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09\u3001\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u3001\u5927\u52d5\u8108\u7e2e\u7a84\u75c7\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u814e\u30fb\u6ccc\u5c3f\u5668\uff1a<\/strong> \u99ac\u8e44\u814e\u3001\u56a2\u80de\u814e\u3001\u6c34\u814e\u75c7\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u6d88\u5316\u5668\uff1a<\/strong> \u80c3\u98df\u9053\u9006\u6d41\u75c7\uff08GERD\uff09\u3001\u5e7d\u9580\u72ed\u7a84\u75c7\u3002<\/li>\n\n\n\n<li><strong>\u76ae\u819a\uff1a<\/strong> \u6e7f\u75b9\u304c\u51fa\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u816b\u760d\u30ea\u30b9\u30af:<\/strong> <em>HDAC4<\/em>\u907a\u4f1d\u5b50\u5909\u7570\u3092\u6301\u3064\u4e00\u90e8\u306e\u5bb6\u7cfb\u3067\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\uff08\u5c0f\u5150\u814e\u304c\u3093\uff09\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u304c\u30012q37\u6b20\u5931\u5168\u4f53\u3068\u3057\u3066\u306e\u660e\u78ba\u306a\u767a\u304c\u3093\u30ea\u30b9\u30af\u4e0a\u6607\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u5b9a\u671f\u7684\u306a\u5065\u8a3a\u306f\u91cd\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>2\u756a\u67d3\u8272\u4f53\u9577\u8155\u672b\u7aef\uff082q37\uff09\u306b\u304a\u3051\u308b\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u8cac\u4efb\u907a\u4f1d\u5b50 HDAC4\u306e\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong><\/p>\n\n\n\n<p>\u75c7\u72b6\u306e\u591a\u304f\u306f\u3001<em>HDAC4<\/em>\u907a\u4f1d\u5b50\u304c\u7247\u65b9\u5931\u308f\u308c\u308b\u3053\u3068\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3067\u8aac\u660e\u304c\u3064\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9aa8\u3078\u306e\u5f71\u97ff:<\/strong> <em>HDAC4<\/em>\u306f\u3001\u9aa8\u306e\u6210\u9577\u677f\u306b\u304a\u3044\u3066\u3001\u8edf\u9aa8\u304c\u9aa8\u306b\u5909\u308f\u308b\u306e\u3092\u300c\u6291\u5236\u300d\u3059\u308b\u50cd\u304d\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u304c\u4e0d\u8db3\u3059\u308b\u3068\u3001\u9aa8\u5316\u304c\u65e9\u304f\u9032\u307f\u3059\u304e\u3066\u3057\u307e\u3044\u3001\u7d50\u679c\u3068\u3057\u3066\u6307\u306e\u9aa8\u304c\u65e9\u304f\u6210\u9577\u3092\u6b62\u3081\u3066\u3057\u307e\u3044\u300c\u77ed\u6307\u75c7\u300d\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8133\u3078\u306e\u5f71\u97ff:<\/strong> \u8133\u306e\u767a\u9054\u306b\u5fc5\u8981\u306a\u907a\u4f1d\u5b50\u7fa4\u306e\u5236\u5fa1\u304c\u4e71\u308c\u3001\u77e5\u7684\u969c\u5bb3\u3084\u81ea\u9589\u75c7\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \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>2q37\u6b20\u5931\u75c7\u5019\u7fa4\u306e**\u5927\u90e8\u5206\uff08\u7d0495%\uff09**\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u67d3\u8272\u4f53\u306e\u672b\u7aef\u304c\u5207\u308c\u3066\u3057\u307e\u3046\uff08Terminal deletion\uff09\u30b1\u30fc\u30b9\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306e\u5e74\u9f62\u306a\u3069\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4f4e\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u7a00\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\uff09\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u4e0d\u5747\u8861\u306a\u6b20\u5931\u3068\u3057\u3066\u5b50\u306b\u907a\u4f1d\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3054\u304f\u7a00\u306b\u3001\u89aa\u81ea\u8eab\u30822q37\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u308b\uff08\u75c7\u72b6\u304c\u8efd\u3044\u305f\u3081\u672a\u8a3a\u65ad\u3060\u3063\u305f\uff09\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/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\u77ed\u6307\u75c7\u300d\u300c\u77e5\u7684\u969c\u5bb3\u300d\u300c\u80a5\u6e80\u50be\u5411\u300d\u306e\u7d44\u307f\u5408\u308f\u305b\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u304c\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u8981\u3067\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>2q37\u9818\u57df\u306e\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\u3068\u3001<em>HDAC4<\/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\u3067\u306f\u3001\u672b\u7aef\u306e\u5fae\u7d30\u306a\u6b20\u5931\u306f\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>FISH\u6cd5\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>2q37\u9818\u57df\uff08\u30b5\u30d6\u30c6\u30ed\u30e1\u30a2\uff09\u306b\u7279\u7570\u7684\u306a\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u305fFISH\u6cd5\u3067\u3082\u8a3a\u65ad\u53ef\u80fd\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30ec\u30f3\u30c8\u30b2\u30f3\u691c\u67fb\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u8db3\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\u3092\u64ae\u308a\u3001\u4e2d\u624b\u9aa8\u30fb\u4e2d\u8db3\u9aa8\u306e\u77ed\u7e2e\uff08\u77ed\u6307\u75c7E\u578b\uff09\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u3053\u308c\u306f\u8a3a\u65ad\u306e\u5f37\u529b\u306a\u88cf\u4ed8\u3051\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9451\u5225\u8a3a\u65ad\uff08\u91cd\u8981\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u507d\u6027\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\uff08PHP \/ Albright\u907a\u4f1d\u6027\u9aa8\u7570\u6804\u990a\u75c7\uff09\uff1a<\/strong> \u9854\u3064\u304d\u3084\u77ed\u6307\u75c7\u304c\u305d\u3063\u304f\u308a\u3067\u3059\u304c\u3001\u3053\u3061\u3089\u306f\u30db\u30eb\u30e2\u30f3\u7570\u5e38\uff08\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u3001\u9ad8\u30ea\u30f3\u8840\u75c7\u3001PTH\u9ad8\u5024\uff09\u304c\u3042\u308a\u307e\u3059\u30022q37\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u306f\u3001\u8840\u6db2\u691c\u67fb\uff08\u30ab\u30eb\u30b7\u30a6\u30e0\u3001PTH\uff09\u306f<strong>\u6b63\u5e38<\/strong>\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>\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\u3001\u5408\u4f75\u75c7\u306e\u7ba1\u7406\u3001\u767a\u9054\u652f\u63f4\u3001\u305d\u3057\u3066\u4f53\u91cd\u7ba1\u7406\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u80a5\u6e80\u30fb\u4ee3\u8b1d\u7ba1\u7406\uff08\u91cd\u8981\uff09<\/strong><\/p>\n\n\n\n<p>\u5b66\u7ae5\u671f\u4ee5\u964d\u3001\u6025\u6fc0\u306a\u4f53\u91cd\u5897\u52a0\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6804\u990a\u6307\u5c0e:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u65e9\u671f\u304b\u3089\u30d0\u30e9\u30f3\u30b9\u306e\u53d6\u308c\u305f\u98df\u4e8b\u3068\u3001\u30ab\u30ed\u30ea\u30fc\u6442\u53d6\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u80a5\u6e80\u306f\u7761\u7720\u6642\u7121\u547c\u5438\u75c7\u5019\u7fa4\u3084\u7cd6\u5c3f\u75c5\u306e\u30ea\u30b9\u30af\u3092\u9ad8\u3081\u308b\u305f\u3081\u3001\u5bb6\u65cf\u3050\u308b\u307f\u306e\u751f\u6d3b\u7fd2\u6163\u7ba1\u7406\u304c\u5927\u5207\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>\u7121\u7406\u306e\u306a\u3044\u7bc4\u56f2\u3067\u904b\u52d5\u7fd2\u6163\u3092\u8eab\u306b\u3064\u3051\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>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u767a\u9054\u9045\u6ede\u306b\u5bfe\u3057\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u65e9\u671f\u304b\u3089\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u3078\u306e\u5bfe\u5fdc:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u69cb\u9020\u5316\u3055\u308c\u305f\u74b0\u5883\u4f5c\u308a\u3084\u3001\u5fdc\u7528\u884c\u52d5\u5206\u6790\uff08ABA\uff09\u3001SST\uff08\u30bd\u30fc\u30b7\u30e3\u30eb\u30b9\u30ad\u30eb\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\uff09\u306a\u3069\u304c\u6709\u52b9\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u3060\u308f\u308a\u3084\u30d1\u30cb\u30c3\u30af\u304c\u3042\u308b\u5834\u5408\u3001\u305d\u306e\u80cc\u666f\u306b\u3042\u308b\u4e0d\u5b89\u3084\u611f\u899a\u904e\u654f\u306b\u914d\u616e\u3057\u305f\u5bfe\u5fdc\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6559\u80b2\u7684\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u3084\u901a\u7d1a\u6307\u5c0e\u6559\u5ba4\u306a\u3069\u3001\u500b\u3005\u306e\u767a\u9054\u6bb5\u968e\u306b\u5408\u308f\u305b\u305f\u6559\u80b2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u533b\u5b66\u7684\u7ba1\u7406\u30fb\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u795e\u7d4c\u5b66\u7684\u7ba1\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\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\n\n\n<li><strong>\u5b9a\u671f\u691c\u8a3a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u75be\u60a3\u3084\u814e\u75be\u60a3\u306e\u5408\u4f75\u304c\u306a\u3044\u304b\u3001\u8a3a\u65ad\u6642\u306b\u5fc3\u30a8\u30b3\u30fc\u30fb\u8179\u90e8\u30a8\u30b3\u30fc\u3067\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5074\u5f2f\u75c7\u306e\u9032\u884c\u304c\u306a\u3044\u304b\u3001\u6574\u5f62\u5916\u79d1\u7684\u306a\u30c1\u30a7\u30c3\u30af\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8074\u529b\u691c\u67fb\u3084\u773c\u79d1\u691c\u8a3a\u3082\u5b9a\u671f\u7684\u306b\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>\u89aa\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u4fdd\u56e0\u8005\u3067\u3042\u308b\u53ef\u80fd\u6027\u3092\u9664\u5916\u3059\u308b\u305f\u3081\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a3a\u65ad\u5f8c\u306e\u898b\u901a\u3057\u3084\u3001\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u5f71\u97ff\u306b\u3064\u3044\u3066\u3001\u5c02\u9580\u5bb6\u304b\u3089\u6b63\u78ba\u306a\u60c5\u5831\u3092\u5f97\u308b\u3053\u3068\u304c\u4e0d\u5b89\u306e\u8efd\u6e1b\u306b\u3064\u306a\u304c\u308a\u307e\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>2q37 deletion syndrome\u306f\u30012\u756a\u67d3\u8272\u4f53\u306e\u7aef\u3063\u3053\uff08\u672b\u7aef\uff09\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u304a\u5b50\u3055\u3093\u306f\u3001\u8d64\u3061\u3083\u3093\u306e\u9803\u306f\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u3067\u3059\u304c\u3001\u6210\u9577\u3059\u308b\u306b\u3064\u308c\u3066\u30cb\u30b3\u30cb\u30b3\u3068\u3057\u305f\u611b\u3089\u3057\u3044\u4e38\u9854\u306b\u306a\u308a\u3001\u4eba\u61d0\u3063\u3053\u3044\u6027\u683c\u3092\u898b\u305b\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u5fb4\u7684\u306a\u3053\u3068\u3068\u3057\u3066\u3001\u624b\u8db3\u306e\u6307\uff08\u7279\u306b\u4e2d\u6307\u30fb\u85ac\u6307\u30fb\u5c0f\u6307\uff09\u304c\u77ed\u304f\u3001\u63e1\u308a\u3053\u3076\u3057\u3092\u4f5c\u308b\u3068\u9aa8\u306e\u51fa\u3063\u5f35\u308a\uff08\u30ca\u30c3\u30af\u30eb\uff09\u304c\u3048\u304f\u307c\u306e\u3088\u3046\u306b\u51f9\u3080\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u81ea\u9589\u75c7\u306e\u3088\u3046\u306a\u3053\u3060\u308f\u308a\u3092\u6301\u3063\u3066\u3044\u305f\u308a\u3001\u5c11\u3057\u592a\u308a\u3084\u3059\u304b\u3063\u305f\u308a\u3059\u308b\u4f53\u8cea\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u540d\u3092\u805e\u3044\u3066\u3001\u300c\u67d3\u8272\u4f53\u7570\u5e38\u300d\u3068\u3044\u3046\u8a00\u8449\u306b\u4e0d\u5b89\u3092\u611f\u3058\u3089\u308c\u305f\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u306e\u75c5\u6c17\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308bHDAC4\u306e\u5f79\u5272\u304c\u5206\u304b\u3063\u3066\u304d\u305f\u3053\u3068\u3067\u3001\u3069\u306e\u3088\u3046\u306a\u30b1\u30a2\u304c\u5fc5\u8981\u304b\u304c\u660e\u78ba\u306b\u306a\u3063\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u5927\u5207\u306a\u306e\u306f\u3001\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u3067\u300c\u8a00\u8449\u300d\u3084\u300c\u793e\u4f1a\u6027\u300d\u3092\u80b2\u3080\u3053\u3068\u3001\u305d\u3057\u3066\u5c06\u6765\u306e\u80a5\u6e80\u3092\u9632\u3050\u305f\u3081\u306b\u3001\u5c0f\u3055\u3044\u9803\u304b\u3089\u300c\u5065\u5eb7\u7684\u306a\u98df\u7fd2\u6163\u300d\u3092\u8eab\u306b\u3064\u3051\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u3084\u5fc3\u81d3\u306e\u75c5\u6c17\u304c\u96a0\u308c\u3066\u3044\u306a\u3044\u304b\u3001\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af\u3082\u5fd8\u308c\u305a\u306b\u53d7\u3051\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u6307\u306e\u77ed\u3055\u306f\u3001\u751f\u6d3b\u306b\u5927\u304d\u306a\u652f\u969c\u3092\u304d\u305f\u3059\u3053\u3068\u306f\u5c11\u306a\u304f\u3001\u3080\u3057\u308d\u305d\u306e\u5b50\u306e\u30c1\u30e3\u30fc\u30e0\u30dd\u30a4\u30f3\u30c8\u3067\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u5e2b\u3001\u5fc3\u7406\u58eb\u3001\u6804\u990a\u58eb\u3001\u305d\u3057\u3066\u5b66\u6821\u306e\u5148\u751f\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u500b\u6027\u8c4a\u304b\u306a\u6210\u9577\u3092\u4e00\u7dd2\u306b\u652f\u3048\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Falk, R.E., et al.<\/strong> (2007). <em>2q37 deletion syndrome: clinical characteristics and natural history.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b2q37\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3001\u81ea\u7136\u6b74\u3001\u5408\u4f75\u75c7\u306e\u983b\u5ea6\u306a\u3069\u3092\u7db2\u7f85\u7684\u306b\u8abf\u67fb\u3057\u305f\u91cd\u8981\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Leroy, C., et al.<\/strong> (2013). <em>The 2q37-deletion syndrome: an update of the clinical spectrum including overweight and behavioural problems.<\/em> European Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u80a5\u6e80\u3084\u884c\u52d5\u969c\u5bb3\uff08\u81ea\u9589\u75c7\u3001\u591a\u52d5\uff09\u306b\u7126\u70b9\u3092\u5f53\u3066\u3001\u5e74\u9f62\u306b\u4f34\u3046\u75c7\u72b6\u306e\u5909\u5316\u306b\u3064\u3044\u3066\u5831\u544a\u3057\u305f\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Williams, S.R., et al.<\/strong> (2010). <em>Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.<\/em> American Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203bHDAC4\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u30012q37\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u306a\u75c7\u72b6\uff08\u77ed\u6307\u75c7\u3001\u77e5\u7684\u969c\u5bb3\u3001\u884c\u52d5\u7570\u5e38\uff09\u306e\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u6c7a\u5b9a\u3065\u3051\u305f\u753b\u671f\u7684\u306a\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Villavicencio-Lorini, P., et al.<\/strong> (2013). <em>Clinical and molecular characterization of 2q37 deletions.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u6b20\u5931\u7bc4\u56f2\u3068\u81e8\u5e8a\u75c7\u72b6\u306e\u76f8\u95a2\uff08Genotype-Phenotype Correlation\uff09\u3092\u89e3\u6790\u3057\u30012q37.3\u9818\u57df\u306e\u91cd\u8981\u6027\u3092\u793a\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>2q37 deletion syndrome<\/em> (2018).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u767a\u9054\u306e\u76ee\u5b89\u3001\u884c\u52d5\u9762\u3078\u306e\u5bfe\u5fdc\u3001\u4f53\u91cd\u7ba1\u7406\u306e\u30b3\u30c4\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>2q37 Deletion Syndrome<\/em>. Initial Posting: July 19, 2011; Last Update: January 20, 2022. <em>Authors: Morris B, et al.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u8a3a\u65ad\u57fa\u6e96\u3001\u6700\u65b0\u306e\u7ba1\u7406\u6307\u91dd\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u60c5\u5831\u3092\u7db2\u7f85\u3057\u305f\u3001\u81e8\u5e8a\u73fe\u5834\u3067\u6700\u3082\u4fe1\u983c\u3055\u308c\u308b\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\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-17028","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\/17028","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\/17028\/revisions"}],"predecessor-version":[{"id":17604,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17028\/revisions\/17604"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17028"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}