{"id":16940,"date":"2026-01-21T02:46:50","date_gmt":"2026-01-21T02:46:50","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16940"},"modified":"2026-01-21T02:46:50","modified_gmt":"2026-01-21T02:46:50","slug":"22q11-2-duplication-syndrome-proximal-a-d","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/22q11-2-duplication-syndrome-proximal-a-d\/","title":{"rendered":"22q11.2 duplication syndrome (proximal, A-D)"},"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>22q11.2\u91cd\u8907\u75c7\u5019\u7fa4\uff08\u8fd1\u4f4d\u578b\u30fb\u5178\u578b\u4f8b\uff09<\/li>\n\n\n\n<li>22q11.2\u5fae\u7d30\u91cd\u8907\u75c7\u5019\u7fa4\uff0822q11.2 microduplication syndrome\uff09<\/li>\n\n\n\n<li>22q11.2\u30c8\u30ea\u30bd\u30df\u30fc\uff08Trisomy 22q11.2\uff09<\/li>\n\n\n\n<li>22q11.2\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff08\u91cd\u8907\uff09\uff0822q11.2 copy number variant, duplication\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff0822q11.2 deletion syndrome \/ DiGeorge syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75be\u60a3\u306f\u3001\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u9818\u57df\uff08\u8fd1\u4f4dA-D\uff09\u304c\u91cd\u8907\u3059\u308b\u300c\u5bfe\uff08\u3064\u3044\uff09\u300d\u3068\u306a\u308b\u75be\u60a3\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u75be\u60a3\u540d\u306e\u5b9a\u7fa9\u306b\u3064\u3044\u3066\uff1a<\/p>\n\n\n\n<p>22q11.2\u91cd\u8907\u75c7\u5019\u7fa4\u306b\u306f\u3001\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u540c\u69d8\u306b\u3001\u9818\u57df\u306e\u5e83\u3055\u3084\u5834\u6240\u306b\u3088\u3063\u3066\u3044\u304f\u3064\u304b\u306e\u30bf\u30a4\u30d7\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u8a18\u4e8b\u3067\u89e3\u8aac\u3059\u308b**\u300cProximal\uff08\u8fd1\u4f4d\uff09, A-D\u300d**\u30bf\u30a4\u30d7\u306f\u3001\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u306e\u6b20\u5931\u7bc4\u56f2\uff08\u5178\u578b\u7684\u306b\u306f3Mb\uff09\u3068\u3074\u3063\u305f\u308a\u4e00\u81f4\u3059\u308b\u9818\u57df\u304c\u91cd\u8907\u3057\u3066\u3044\u308b\u3001\u6700\u3082\u4ee3\u8868\u7684\u306a\u30bf\u30a4\u30d7\u3067\u3059\u3002<\/p>\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>22\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0911.2\u9818\u57df\uff08\u8fd1\u4f4d\u9818\u57df\uff1aLCR22-A\u304b\u3089LCR22-D\u307e\u3067\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e22\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306b\u3042\u308b\u300c11.2\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001<strong>LCR22-A\u304b\u3089LCR22-D<\/strong>\u307e\u3067\u306e\u7d043\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u306eDNA\u914d\u5217\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\u300c\u76f8\u53cd\uff08Reciprocal\uff09\u95a2\u4fc2\u300d\u3011<\/p>\n\n\n\n<p>22q11.2\u9818\u57df\u306b\u306f\u3001**LCR\uff08Low Copy Repeats\uff09**\u3068\u547c\u3070\u308c\u308b\u3001DNA\u914d\u5217\u304c\u4e92\u3044\u306b\u3088\u304f\u4f3c\u305f\u30d6\u30ed\u30c3\u30af\u304c\u3001A\u3001B\u3001C\u3001D&#8230;\u3068\u9806\u306b\u4e26\u3093\u3067\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b20\u5931\u75c7\u5019\u7fa4\uff08Deletion\uff09\uff1a<\/strong> LCR-A\u3068LCR-D\u306e\u9593\u304c\u300c\u629c\u3051\u843d\u3061\u308b\u300d\u3068\u3001\u6709\u540d\u306a22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\uff09\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u8907\u75c7\u5019\u7fa4\uff08Duplication\uff09\uff1a<\/strong> LCR-A\u3068LCR-D\u306e\u9593\u304c\u300c\u500d\u306b\u306a\u308b\uff08\u5897\u3048\u308b\uff09\u300d\u3068\u3001\u672c\u75be\u60a3\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3064\u307e\u308a\u3001\u3053\u306e\u4e8c\u3064\u306e\u75be\u60a3\u306f\u3001\u540c\u3058\u5834\u6240\u3067\u8d77\u304d\u305f\u300c\u30de\u30a4\u30ca\u30b9\uff08\u6b20\u5931\uff09\u300d\u3068\u300c\u30d7\u30e9\u30b9\uff08\u91cd\u8907\uff09\u300d\u3068\u3044\u3046\u3001\u93e1\u5408\u308f\u305b\u306e\u3088\u3046\u306a\u95a2\u4fc2\uff08\u76f8\u53cd\u95a2\u4fc2\uff09\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u7d043Mb\u306e\u9818\u57df\u306b\u306f\u300130\u301c40\u500b\u4ee5\u4e0a\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>TBX1 (T-Box Transcription Factor 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6700\u3082\u91cd\u8981\u306a\u8cac\u4efb\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u80ce\u5150\u671f\u306e\u54bd\u982d\u5f13\uff08\u9854\u3084\u5fc3\u81d3\u306e\u5143\uff09\u306e\u767a\u9054\u3092\u6307\u63ee\u3059\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u306f\u3001\u3053\u306e\u907a\u4f1d\u5b50\u304c\u4e0d\u8db3\u3059\u308b\u3053\u3068\u3067\u91cd\u7be4\u306a\u5fc3\u75be\u60a3\u3084\u514d\u75ab\u4e0d\u5168\u304c\u8d77\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e00\u65b9\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u3067\u306f\u3001\u3053\u306e\u907a\u4f1d\u5b50\u304c\u904e\u5270\uff08\u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3\uff09\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u767a\u9054\u306e\u30d0\u30e9\u30f3\u30b9\u306b\u5fae\u7d30\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u8208\u5473\u6df1\u3044\u3053\u3068\u306b\u3001<em>TBX1<\/em>\u306f\u591a\u3059\u304e\u3066\u3082\u5c11\u306a\u3059\u304e\u3066\u3082\u3001\u53e3\u84cb\uff08\u53e3\u306e\u4e2d\u306e\u5929\u4e95\uff09\u306e\u767a\u9054\u306a\u3069\u306b\u4f3c\u305f\u3088\u3046\u306a\u60aa\u5f71\u97ff\u3092\u53ca\u307c\u3059\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>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u6bd4\u8f03\u7684\u9ad8\u3044\uff08\u7d041\/700 \u301c 1\/1,000\u306e\u53ef\u80fd\u6027\u3042\u308a\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u3092\u7279\u5b9a\u3059\u308b\u3053\u3068\u306f\u56f0\u96e3\u3067\u3059\u304c\u3001\u8fd1\u5e74\u306e\u7814\u7a76\u3067\u306f\u3001\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\uff09\u3068\u540c\u7a0b\u5ea6\u3001\u3042\u308b\u3044\u306f\u305d\u308c\u4ee5\u4e0a\u306b\u983b\u5ea6\u304c\u9ad8\u3044\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u81e8\u5e8a\u73fe\u5834\u3067\u8a3a\u65ad\u3055\u308c\u308b\u6570\u306f\u3001\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u6bd4\u3079\u3066\u5727\u5012\u7684\u306b\u5c11\u306a\u3044\u3067\u3059\u3002\u305d\u306e\u7406\u7531\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u75c7\u72b6\u304c\u30de\u30a4\u30eb\u30c9:<\/strong> \u6b20\u5931\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306a\u3001\u751f\u547d\u306b\u95a2\u308f\u308b\u91cd\u7be4\u306a\u5fc3\u75be\u60a3\u3084\u514d\u75ab\u4e0d\u5168\u3092\u4f34\u3046\u3053\u3068\u304c\u5c11\u306a\u304f\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3082\u76ee\u7acb\u305f\u306a\u3044\u305f\u3081\u3001\u533b\u7642\u6a5f\u95a2\u3092\u53d7\u8a3a\u3057\u306a\u3044\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e0d\u5b8c\u5168\u6d78\u900f:<\/strong> \u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u5168\u304f\u75c7\u72b6\u304c\u51fa\u306a\u3044\uff08\u5065\u5e38\u306a\uff09\u4eba\u304c\u591a\u6570\u5b58\u5728\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u691c\u67fb\u306e\u666e\u53ca:<\/strong> \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u304c\u884c\u308f\u308c\u306a\u3044\u9650\u308a\u8a3a\u65ad\u3067\u304d\u306a\u3044\u305f\u3081\u3001\u767a\u9054\u9045\u6ede\u306e\u691c\u67fb\u306a\u3069\u3067\u300c\u5076\u7136\u300d\u898b\u3064\u304b\u308b\u30b1\u30fc\u30b9\u304c\u5927\u534a\u3067\u3059\u3002<\/li>\n<\/ol>\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>22q11.2 duplication syndrome (proximal, A-D) \u306e\u75c7\u72b6\u306f\u3001**\u300c\u6975\u3081\u3066\u591a\u69d8\u300d\u3067\u3042\u308a\u3001\u300c\u6b20\u5931\u75c7\u5019\u7fa4\u3088\u308a\u3082\u8efd\u5ea6\u300d**\u3067\u3042\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6700\u3082\u4e3b\u306a\u75c7\u72b6\u306f\u3001\u8eab\u4f53\u7684\u306a\u75c5\u6c17\u3088\u308a\u3082\u3001\u767a\u9054\u3084\u884c\u52d5\u306e\u7279\u6027\u306b\u73fe\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u4e0d\u5b8c\u5168\u6d78\u900f\uff08Incomplete Penetrance\uff09\u3068\u5bb6\u65cf\u6027<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306e\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7121\u75c7\u72b6\u306e\u4fdd\u56e0\u8005:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u5fa1\u3055\u3093\u304c\u3053\u306e\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u5168\u304f\u5065\u5eb7\u3067\u3001\u901a\u5e38\u306e\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u30b1\u30fc\u30b9\u304c\u975e\u5e38\u306b\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u300c\u5b50\u3069\u3082\u306b\u767a\u9054\u306e\u9045\u308c\u304c\u3042\u308a\u691c\u67fb\u3092\u3057\u305f\u3089\u3001\u5065\u5eb7\u3060\u3068\u601d\u3063\u3066\u3044\u305f\u89aa\u3082\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u305f\u300d\u3068\u3044\u3046\u30d1\u30bf\u30fc\u30f3\u304c\u3001\u672c\u75be\u60a3\u306e\u8a3a\u65ad\u306b\u304a\u3044\u3066\u6700\u3082\u3088\u304f\u3042\u308b\u30b7\u30ca\u30ea\u30aa\u3067\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>\u8a3a\u65ad\u3055\u308c\u308b\u60a3\u8005\u3055\u3093\u306e\u591a\u304f\u306f\u3001\u4f55\u3089\u304b\u306e\u767a\u9054\u306e\u9045\u308c\u3092\u4e3b\u8a34\uff08\u53d7\u8a3a\u7406\u7531\uff09\u3068\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u6ede\uff08DD\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\uff08Speech delay\uff09\u304c\u6700\u3082\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u904b\u52d5\u767a\u9054\uff08\u6b69\u884c\u958b\u59cb\u306a\u3069\uff09\u306e\u9045\u308c\u3082\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u8efd\u5ea6\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u77e5\u80fd\u306f\u6b63\u5e38\u7bc4\u56f2\uff08Normal IQ\uff09\u3067\u3042\u308b\u3053\u3068\u3082\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u5b66\u7fd2\u969c\u5bb3\uff08LD\uff09\u3068\u3057\u3066\u3001\u8aad\u307f\u66f8\u304d\u3084\u8a08\u7b97\u306b\u7279\u7570\u7684\u306a\u82e6\u624b\u3055\u3092\u6301\u3064\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5e7c\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u59ff\u52e2\u4fdd\u6301\u304c\u82e6\u624b\u306a\u72b6\u614b\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u304c\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306b\u3064\u306a\u304c\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<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u884c\u52d5\u7279\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u3001\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u3001\u53cd\u6297\u6311\u6226\u6027\u969c\u5bb3\u306a\u3069\u306e\u7279\u6027\u3092\u6301\u3064\u983b\u5ea6\u304c\u9ad8\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e0d\u5b89\u306e\u5f37\u3055\u3084\u3001\u5bfe\u4eba\u95a2\u4fc2\u306e\u4e0d\u5668\u7528\u3055\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u75be\u60a3\u30ea\u30b9\u30af:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u306f\u7d71\u5408\u5931\u8abf\u75c7\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u305d\u306e\u30ea\u30b9\u30af\u304c\u3069\u306e\u7a0b\u5ea6\u3042\u308b\u304b\u306f\u3001\u307e\u3060\u660e\u78ba\u306a\u7d50\u8ad6\u304c\u51fa\u3066\u3044\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u4e00\u90e8\u306e\u7814\u7a76\u3067\u306f\u7cbe\u795e\u75be\u60a3\u3078\u306e\u611f\u53d7\u6027\u304c\u9ad8\u307e\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u304a\u308a\u3001\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9\u306e\u30b1\u30a2\u306f\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u8eab\u4f53\u7684\u7279\u5fb4\uff08\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306e\u5bfe\u6bd4\uff09<\/strong><\/p>\n\n\n\n<p>\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\uff09\u3068\u4f3c\u305f\u75c7\u72b6\u304c\u51fa\u308b\u3053\u3068\u3082\u3042\u308c\u3070\u3001\u9006\u306e\u75c7\u72b6\u304c\u51fa\u308b\u3053\u3068\u3082\u3042\u308a\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>\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3001\u5e83\u3044\u9f3b\u6839\u90e8\u3001\u9ad8\u3044\u7709\u6bdb\u3001\u8033\u306e\u7570\u5e38\u306a\u3069\u3002<\/li>\n\n\n\n<li>\u3057\u304b\u3057\u3001\u3053\u308c\u3089\u306f\u975e\u5e38\u306b\u8efd\u5fae\u3067\u3001\u300c\u89aa\u306b\u4f3c\u3066\u3044\u308b\u300d\u7bc4\u56f2\u5185\u3067\u3042\u308b\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u53e3\u84cb\u30fb\u54bd\u982d:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7c98\u819c\u4e0b\u53e3\u84cb\u88c2\u3084\u53e3\u84cb\u54bd\u982d\u6a5f\u80fd\u4e0d\u5168\uff08\u9f3b\u58f0\u3001\u30df\u30eb\u30af\u306e\u9f3b\u3078\u306e\u9006\u6d41\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u983b\u5ea6\u306f\u6b20\u5931\u75c7\u5019\u7fa4\u3088\u308a\u4f4e\u3044\u3067\u3059\u304c\u3001\u8a00\u8449\u306e\u767a\u9054\u306b\u5f71\u97ff\u3059\u308b\u305f\u3081\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8074\u899a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u96e3\u8074\uff08\u4f1d\u97f3\u6027\u30fb\u611f\u97f3\u6027\uff09\u3084\u8033\u306e\u5947\u5f62\uff08\u8033\u4ecb\u4f4e\u5f62\u6210\u306a\u3069\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u306a\u3069\u306e\u5fc3\u75be\u60a3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306a\u91cd\u7be4\u306a\u5186\u9310\u52d5\u8108\u5e79\u7570\u5e38\uff08\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u306a\u3069\uff09\u306e\u983b\u5ea6\u306f\u4f4e\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6210\u9577:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u306f\u4f4e\u8eab\u9577\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u3067\u306f**\u767a\u80b2\u4e0d\u5168\uff08Failure to thrive\uff09<strong>\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308c\u3070\u3001\u9006\u306b<\/strong>\u904e\u6210\u9577\uff08\u9ad8\u8eab\u9577\uff09**\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u4e00\u5b9a\u3057\u307e\u305b\u3093\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>22\u756a\u67d3\u8272\u4f53\u9577\u8155\u8fd1\u4f4d\uff0822q11.2 A-D\u9818\u57df\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\uff1aNAHR\uff08\u975e\u30a2\u30ea\u30eb\u9593\u540c\u6e90\u7d44\u63db\u3048\uff09<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u3001DNA\u914d\u5217\u304c\u305d\u3063\u304f\u308a\u306a\u300cLCR\uff08Low Copy Repeats\uff09\u300d\u30d6\u30ed\u30c3\u30af\uff08A, B, C, D&#8230;\uff09\u304c\u4e26\u3093\u3067\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6e1b\u6570\u5206\u88c2\u306e\u969b\u3001\u672c\u6765\u30da\u30a2\u306b\u306a\u308b\u3079\u304d\u5834\u6240\u304c\u305a\u308c\u3001LCR-A\u3068LCR-D\u306e\u9593\u3067\u8aa4\u3063\u3066\u7d44\u63db\u3048\uff08\u30df\u30b9\u30de\u30c3\u30c1\uff09\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u305d\u306e\u7d50\u679c\u3001\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u300c\u629c\u3051\u843d\u3061\u308b\uff08\u6b20\u5931\uff09\u300d\u7d30\u80de\u3068\u3001\u300c\u500d\u306b\u306a\u308b\uff08\u91cd\u8907\uff09\u300d\u7d30\u80de\u304c\u540c\u6642\u306b\u751f\u307e\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u304c\u300122q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u91cd\u8907\u75c7\u5019\u7fa4\u304c\u8868\u88cf\u4e00\u4f53\u306e\u95a2\u4fc2\u306b\u3042\u308b\u7406\u7531\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff08Gene Dosage Effect\uff09<\/strong><\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u304c3\u30b3\u30d4\u30fc\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u904e\u5270\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u4f5c\u3089\u308c\u307e\u3059\uff08\u30c8\u30ea\u30d7\u30ed\u30bb\u30f3\u30b7\u30c6\u30a3\uff09\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>TBX1\u907a\u4f1d\u5b50\u306e\u904e\u5270:<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>TBX1<\/em>\u306f\u3001\u80ce\u5150\u671f\u306e\u7d44\u7e54\u5f62\u6210\u306b\u304a\u3044\u3066\u3001\u91cf\u304c\u591a\u3059\u304e\u3066\u3082\u5c11\u306a\u3059\u304e\u3066\u3082\u767a\u9054\u306e\u30d0\u30e9\u30f3\u30b9\u3092\u5d29\u3059\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u91cd\u8907\u306e\u5834\u5408\u3001\u3053\u306e\u907a\u4f1d\u5b50\u91cf\u306e\u5909\u5316\u306b\u5bfe\u3059\u308b\u611f\u53d7\u6027\u304c\u4eba\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u305f\u3081\u3001\u300c\u75c7\u72b6\u304c\u51fa\u308b\u4eba\u300d\u3068\u300c\u51fa\u306a\u3044\u4eba\u300d\u306e\u5dee\uff08\u4e0d\u5b8c\u5168\u6d78\u900f\uff09\u304c\u751f\u307e\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u907a\u4f1d\u5f62\u5f0f\uff1a\u5bb6\u65cf\u6027\u306e\u983b\u5ea6\u304c\u6975\u3081\u3066\u9ad8\u3044<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5bb6\u65cf\u6027\uff08Inherited\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75be\u60a3\u306f\u3001**\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u3042\u308b\u78ba\u7387\u304c\u975e\u5e38\u306b\u9ad8\u3044\uff08\u7d0470%\u4ee5\u4e0a\uff09**\u3068\u8a00\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u591a\u304f\u304c\u300c\u7a81\u7136\u5909\u7570\u300d\u3067\u3042\u308b\u306e\u306b\u5bfe\u3057\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u591a\u304f\u306f\u300c\u89aa\u304b\u3089\u306e\u907a\u4f1d\u300d\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306f\u3001\u89aa\u304c\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u5065\u5eb7\u3067\u3001\u5b50\u3069\u3082\u3092\u6301\u3064\u80fd\u529b\uff08\u598a\u5b55\u6027\uff09\u306b\u554f\u984c\u304c\u306a\u3044\u305f\u3081\u3001\u4e16\u4ee3\u3092\u8d85\u3048\u3066\u53d7\u3051\u7d99\u304c\u308c\u3084\u3059\u3044\u304b\u3089\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u6027\u5225\u306b\u95a2\u308f\u3089\u305a50%\u306e\u78ba\u7387\u3067\u5b50\u306b\u907a\u4f1d\u3057\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>\u81e8\u5e8a\u75c7\u72b6\uff08\u9854\u8c8c\u3084\u8efd\u5ea6\u306e\u767a\u9054\u9045\u6ede\uff09\u3060\u3051\u3067\u306f\u7279\u5fb4\u304c\u3064\u304b\u307f\u306b\u304f\u304f\u3001\u8a3a\u65ad\u306f\u56f0\u96e3\u3067\u3059\u3002\u767a\u9054\u691c\u67fb\u3084\u5fc3\u75be\u60a3\u306e\u7cbe\u67fb\u306a\u3069\u306e\u904e\u7a0b\u3067\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u884c\u308f\u308c\u3001\u767a\u898b\u3055\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:<\/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>22q11.2\u9818\u57df\u306e\u30b3\u30d4\u30fc\u6570\u5897\u52a0\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u7bc4\u56f2\u304c\u5178\u578b\u7684\u306a\u300cA-D\uff083Mb\uff09\u300d\u3067\u3042\u308b\u3053\u3068\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f93\u6765\u306eFISH\u6cd5\u3067\u3082\u3001\u30d7\u30ed\u30fc\u30d6\u304cTUPLE1\uff08LCR A-B\u9593\uff09\u306b\u8a2d\u5b9a\u3055\u308c\u3066\u3044\u308b\u305f\u3081\u91cd\u8907\u3092\u691c\u51fa\u53ef\u80fd\u3067\u3059\u304c\u3001\u6b20\u5931\u306e\u691c\u51fa\u3092\u4e3b\u76ee\u7684\u3068\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u91cd\u8907\u306f\u898b\u9003\u3055\u308c\u308b\uff08\u3042\u308b\u3044\u306f\u91cd\u8981\u8996\u3055\u308c\u306a\u3044\uff09\u3053\u3068\u3082\u3042\u308a\u307e\u3057\u305f\u3002\u73fe\u5728\u306fCMA\u304c\u4e3b\u6d41\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e21\u89aa\u306e\u89e3\u6790\uff08Parental Testing\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u304a\u5b50\u3055\u3093\u306b\u3053\u306e\u91cd\u8907\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u3001\u4e21\u89aa\u306e\u691c\u67fb\u304c<strong>\u5f37\u304f\u63a8\u5968<\/strong>\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u3082\u540c\u3058\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u305d\u306e\u89aa\u306e\u5065\u5eb7\u72b6\u614b\u3084\u767a\u9054\u6b74\u306f\u3001\u304a\u5b50\u3055\u3093\u306e\u5c06\u6765\u3092\u4e88\u6e2c\u3059\u308b\u4e0a\u3067\u975e\u5e38\u306b\u91cd\u8981\u306a\u53c2\u8003\u60c5\u5831\u306b\u306a\u308a\u307e\u3059\u3002\u89aa\u304c\u5065\u5eb7\u3067\u3042\u308c\u3070\u3001\u304a\u5b50\u3055\u3093\u3082\u91cd\u7be4\u306a\u72b6\u614b\u306b\u306f\u306a\u3089\u306a\u3044\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3068\u63a8\u6e2c\u3067\u304d\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>\u904e\u5270\u306a\u67d3\u8272\u4f53\u9818\u57df\u3092\u53d6\u308a\u9664\u304f\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u307e\u305f\u3001\u7121\u75c7\u72b6\u3067\u3042\u308c\u3070\u6cbb\u7642\u306e\u5fc5\u8981\u3082\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u304c\u3042\u308b\u5834\u5408\u306e\u307f\u3001\u305d\u308c\u306b\u5fdc\u3058\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u7642\u80b2\u7684\u652f\u63f4\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \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>\u8a00\u8449\u306e\u9045\u308c\u3084\u7b4b\u7dca\u5f35\u4f4e\u4e0b\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\u6d3b\u7528\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u500b\u5225\u306e\u6559\u80b2\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u304c\u306a\u304f\u3066\u3082\u3001ADHD\u3084\u5b66\u7fd2\u969c\u5bb3\u306e\u50be\u5411\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5b66\u6821\u3067\u306e\u74b0\u5883\u8abf\u6574\u3084\u500b\u5225\u306e\u5b66\u7fd2\u652f\u63f4\uff08\u901a\u7d1a\u6307\u5c0e\u306a\u3069\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8996\u899a\u7684\u306a\u60c5\u5831\u51e6\u7406\u304c\u5f97\u610f\u306a\u5834\u5408\u304c\u591a\u3044\u305f\u3081\u3001\u8996\u899a\u652f\u63f4\u3092\u53d6\u308a\u5165\u308c\u305f\u5b66\u7fd2\u65b9\u6cd5\u304c\u6709\u52b9\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5065\u5eb7\u7ba1\u7406\u30fb\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8a3a\u65ad\u6642\u306e\u30c1\u30a7\u30c3\u30af:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u6642\u70b9\u3067\u3001\u5ff5\u306e\u305f\u3081\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u3001\u8074\u529b\u691c\u67fb\u3001\u53e3\u84cb\u306e\u8a3a\u5bdf\uff08\u7c98\u819c\u4e0b\u53e3\u84cb\u88c2\u306e\u6709\u7121\uff09\u3001\u814e\u30a8\u30b3\u30fc\u691c\u67fb\u306a\u3069\u3092\u884c\u3044\u3001\u96a0\u308c\u305f\u5408\u4f75\u75c7\u304c\u306a\u3044\u304b\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u3089\u306b\u554f\u984c\u304c\u306a\u3051\u308c\u3070\u3001\u57fa\u672c\u7684\u306b\u306f\u901a\u5e38\u306e\u5b9a\u671f\u5065\u8a3a\u3067\u6210\u9577\u3092\u898b\u5b88\u308b\u3053\u3068\u3067\u5341\u5206\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306a\u3001\u53b3\u5bc6\u306a\u30ab\u30eb\u30b7\u30a6\u30e0\u7ba1\u7406\u3084\u514d\u75ab\u7ba1\u7406\u306f\u901a\u5e38\u4e0d\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u3082\u91cd\u8981\u306a\u30b1\u30a2\u306e\u4e00\u3064\u3067\u3059\u3002<\/strong><\/li>\n\n\n\n<li><strong>\u8a3a\u65ad\u540d\u306e\u6574\u7406:<\/strong> \u300c22q11.2\u300d\u3068\u805e\u304f\u3068\u3001\u30cd\u30c3\u30c8\u691c\u7d22\u3067\u51fa\u3066\u304f\u308b\u300c\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\uff09\u300d\u306e\u91cd\u3044\u75c7\u72b6\u3068\u6df7\u540c\u3057\u3066\u3057\u307e\u3044\u304c\u3061\u3067\u3059\u3002\u300c\u91cd\u8907\u300d\u306f\u5168\u304f\u5225\u306e\u72b6\u614b\u3067\u3042\u308a\u3001\u4e88\u5f8c\u3082\u4e00\u822c\u7684\u306b\u826f\u597d\u3067\u3042\u308b\u3053\u3068\u3092\u6b63\u3057\u304f\u7406\u89e3\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u300c\u89aa\u304b\u3089\u306e\u907a\u4f1d\u300d\u3078\u306e\u7406\u89e3:<\/strong> \u89aa\u5fa1\u3055\u3093\u304c\u81ea\u5206\u3092\u8cac\u3081\u306a\u3044\u3088\u3046\u306b\u30b1\u30a2\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002\u5065\u5eb7\u306a\u89aa\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u305f\u3068\u3044\u3046\u4e8b\u5b9f\u306f\u3001\u3080\u3057\u308d\u300c\u826f\u6027\u306a\u5909\u5316\u3067\u3042\u308b\u53ef\u80fd\u6027\u300d\u3092\u793a\u5506\u3059\u308b\u5b89\u5fc3\u6750\u6599\u3067\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u5f71\u97ff\u3084\u3001\u6b21\u5b50\u306e\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u3082\u76f8\u8ac7\u3057\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>22q11.2 duplication syndrome (proximal, A-D) \u306f\u300122\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5897\u3048\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u4f53\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u5927\u304d\u306a\u7279\u5fb4\u306f\u3001\u300c\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\uff09\u300d\u3068\u306f\u9006\u306e\u5909\u5316\u3067\u3042\u308b\u3053\u3068\u3001\u305d\u3057\u3066\u300c\u75c7\u72b6\u306e\u500b\u4eba\u5dee\u304c\u3068\u3066\u3082\u5927\u304d\u3044\u300d\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u8907\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u5168\u304f\u75c7\u72b6\u304c\u306a\u304f\u3001\u691c\u67fb\u3092\u53d7\u3051\u308b\u307e\u3067\u6c17\u3065\u304b\u305a\u306b\u793e\u4f1a\u3067\u6d3b\u8e8d\u3057\u3066\u3044\u308b\u89aa\u5fa1\u3055\u3093\u304c\u305f\u304f\u3055\u3093\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3082\u3057\u3001\u304a\u5b50\u3055\u3093\u306b\u8a00\u8449\u306e\u9045\u308c\u3084\u3001\u843d\u3061\u7740\u304d\u306e\u306a\u3055\u306a\u3069\u304c\u3042\u308a\u3001\u691c\u67fb\u306e\u7d50\u679c\u3053\u306e\u91cd\u8907\u304c\u898b\u3064\u304b\u3063\u305f\u3068\u3057\u3066\u3082\u3001\u305d\u308c\u304c\u300c\u5c06\u6765\u305a\u3063\u3068\u7d9a\u304f\u91cd\u3044\u969c\u5bb3\u300d\u3092\u610f\u5473\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u591a\u304f\u306e\u5834\u5408\u3001\u8eab\u4f53\u7684\u306a\u5065\u5eb7\u72b6\u614b\u306f\u826f\u597d\u3067\u3001\u7279\u5225\u306a\u533b\u7642\u51e6\u7f6e\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u306f\u7a00\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8449\u306e\u7df4\u7fd2\u3084\u3001\u5b66\u7fd2\u306e\u30b5\u30dd\u30fc\u30c8\u306a\u3069\u3001\u305d\u306e\u6642\u306e\u304a\u5b50\u3055\u3093\u306e\u56f0\u308a\u611f\u306b\u5408\u308f\u305b\u305f\u7642\u80b2\u3092\u884c\u3048\u3070\u3001\u304a\u5b50\u3055\u3093\u306f\u305d\u306e\u5b50\u306a\u308a\u306e\u30da\u30fc\u30b9\u3067\u7740\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u89aa\u304b\u3089\u907a\u4f1d\u3057\u305f\u300d\u3068\u3044\u3046\u3053\u3068\u3082\u3001\u904e\u5ea6\u306b\u6050\u308c\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3084\u533b\u5e2b\u3068\u3088\u304f\u8a71\u3057\u5408\u3044\u3001\u6b63\u3057\u3044\u77e5\u8b58\u3092\u6301\u3063\u3066\u3001\u304a\u5b50\u3055\u3093\u306e\u500b\u6027\u8c4a\u304b\u306a\u6210\u9577\u3092\u6e29\u304b\u304f\u898b\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>Wentzel, C., et al.<\/strong> (2008). <em>22q11.2 duplication syndrome: elevated rate of de novo events and no evidence for paternal origin bias.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b22q11.2\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u767a\u751f\u8d77\u6e90\uff08de novo\u304b\u5bb6\u65cf\u6027\u304b\uff09\u3084\u983b\u5ea6\u306b\u3064\u3044\u3066\u89e3\u6790\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Portno\u00ef, M.F. et al.<\/strong> (2009). <em>22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge\/velocardiofacial syndromes.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5bb6\u65cf\u6027\u306e22q11.2\u91cd\u8907\u75c7\u4f8b\u3092\u5831\u544a\u3057\u3001\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u4e00\u90e8\u91cd\u8907\u3059\u308b\u75c7\u72b6\uff08\u53e3\u84cb\u88c2\u306a\u3069\uff09\u3084\u3001\u4e0d\u5b8c\u5168\u6d78\u900f\u306b\u3064\u3044\u3066\u8003\u5bdf\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Ensenauer, R.E., et al.<\/strong> (2003). <em>Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.<\/em> American Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b22q11.2\u91cd\u8907\u75c7\u5019\u7fa4\u3092\u65b0\u305f\u306a\u75be\u60a3\u6982\u5ff5\u3068\u3057\u3066\u78ba\u7acb\u3057\u3001\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u767a\u9054\u9045\u6ede\u3001\u8efd\u5ea6\u306e\u7570\u5f62\u6027\u306a\u3069\uff09\u3092\u8a73\u7d30\u306b\u5b9a\u7fa9\u3057\u305f\u8a18\u5ff5\u7891\u7684\u306a\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Van Campenhout, S., et al.<\/strong> (2012). <em>Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b22q11.2\u91cd\u8907\u3092\u6301\u3064\u5c0f\u5150\u306e\u884c\u52d5\u7279\u6027\uff08ADHD\u3001ASD\u306a\u3069\uff09\u3084\u767a\u9054\u30d7\u30ed\u30d5\u30a3\u30fc\u30eb\u306b\u7126\u70b9\u3092\u5f53\u3066\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>22q11.2 microduplications<\/em> (2018).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u6b20\u5931\u3068\u306e\u9055\u3044\u3001\u75c7\u72b6\u306e\u5e45\u5e83\u3055\u3001\u89aa\u304c\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u306e\u8003\u3048\u65b9\u3001\u5b66\u7fd2\u652f\u63f4\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>22q11.2 Duplication Syndrome<\/em>. Initial Posting: November 17, 2009; Last Update: March 17, 2016. <em>Authors: Hassed S, et al.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u672c\u75be\u60a3\u306e\u8a3a\u65ad\u3001\u81e8\u5e8a\u7684\u7279\u5fb4\u3001\u7ba1\u7406\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u95a2\u3059\u308b\u5305\u62ec\u7684\u306a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\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-16940","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\/16940","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/genetic-screening"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16940\/revisions"}],"predecessor-version":[{"id":16942,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16940\/revisions\/16942"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16940"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}