{"id":16905,"date":"2026-01-21T02:08:08","date_gmt":"2026-01-21T02:08:08","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16905"},"modified":"2026-01-21T02:08:08","modified_gmt":"2026-01-21T02:08:08","slug":"1q41-q42-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/1q41-q42-deletion-syndrome\/","title":{"rendered":"1q41-q42 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>1q41-q42\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>1q41-q42\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff081q41-q42 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>1q41-q42\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 1q41-q42\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\uff08Congenital Diaphragmatic Hernia; CDH\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1aDISP1\u95a2\u9023\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u30d5\u30ea\u30f3\u30ba\u75c7\u5019\u7fa4\uff08Fryns syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u30d5\u30ea\u30f3\u30ba\u75c7\u5019\u7fa4\u306f\u5225\u306e\u75be\u60a3\u3067\u3059\u304c\u30011q41-q42\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u3055\u3093\u304c\u3001\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u3084\u9854\u8c8c\u306e\u7279\u5fb4\u304b\u3089\u3001\u8aa4\u3063\u3066\u30d5\u30ea\u30f3\u30ba\u75c7\u5019\u7fa4\u3068\u81e8\u5e8a\u8a3a\u65ad\u3055\u308c\u308b\u30b1\u30fc\u30b9\u304c\u904e\u53bb\u306b\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u91cd\u8981\u306a\u9451\u5225\u75be\u60a3\uff08\u898b\u5206\u3051\u308b\u3079\u304d\u75c5\u6c17\uff09\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>1\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0941\u304b\u308942\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e1\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306b\u3042\u308b\u300c41\u300d\u304b\u3089\u300c42\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\u91cd\u8981\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>1\u756a\u67d3\u8272\u4f53\u306f\u30d2\u30c8\u3067\u6700\u3082\u5927\u304d\u306a\u67d3\u8272\u4f53\u3067\u3059\u3002\u3053\u306e1q41-q42\u9818\u57df\u306b\u306f\u591a\u6570\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u8fd1\u5e74\u306e\u7814\u7a76\u306b\u3088\u308a\u3001\u672c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u300c\u8cac\u4efb\u907a\u4f1d\u5b50\u300d\u304c\u7279\u5b9a\u3055\u308c\u3066\u304d\u3066\u3044\u307e\u3059\u3002\u6b20\u5931\u306e\u7bc4\u56f2\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\uff08\u6570\u767ekb\u301c\u6570Mb\uff09\u3001\u3069\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u91cd\u3055\u304c\u5909\u308f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>DISP1 (Dispatched RND Transporter Family Member 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u91cd\u8981\u306e\u8cac\u4efb\u907a\u4f1d\u5b50\u306e\u4e00\u3064<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u300c\u30bd\u30cb\u30c3\u30af\u30fb\u30d8\u30c3\u30b8\u30db\u30c3\u30b0\uff08SHH\uff09\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u300d\u3068\u3044\u3046\u3001\u80ce\u5150\u671f\u306e\u4f53\u306e\u5f62\u6210\u306b\u4e0d\u53ef\u6b20\u306a\u30b7\u30b9\u30c6\u30e0\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b\u3001\u4f53\u306e\u5de6\u53f3\u3092\u5206\u3051\u3001\u4e2d\u5fc3\u3092\u4f5c\u308b\u30d7\u30ed\u30bb\u30b9\u306b\u95a2\u308f\u308b\u305f\u3081\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306f**\u300c\u53e3\u5507\u53e3\u84cb\u88c2\u300d<strong>\u3084<\/strong>\u300c\u8133\u6881\u6b20\u640d\u300d**\u306a\u3069\u306e\u6b63\u4e2d\u7dda\u6b20\u640d\u3001\u304a\u3088\u3073\u5fae\u7d30\u306a\u9854\u8c8c\u7570\u5e38\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>HLX (H2.0 Like Homeobox):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6a2a\u9694\u819c\u3084\u5185\u81d3\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306f\u3001\u672c\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308b**\u300c\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\uff08CDH\uff09\u300d**\u306e\u4e3b\u8981\u306a\u539f\u56e0\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>FBXO28 (F-Box Protein 28):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8fd1\u5e74\u3001**\u300c\u3066\u3093\u304b\u3093\u300d**\u3084\u767a\u9054\u9045\u6ede\u3068\u306e\u95a2\u9023\u304c\u5f37\u304f\u793a\u5506\u3055\u308c\u3066\u3044\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002\u795e\u7d4c\u7d30\u80de\u306e\u6a5f\u80fd\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>TPM3 (Tropomyosin 3):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u8089\u306e\u53ce\u7e2e\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3042\u308a\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306a\u3069\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u975e\u5e38\u306b\u7a00\uff08Ultra-rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u306b\u304a\u3051\u308b\u8a73\u7d30\u306a\u75c7\u4f8b\u5831\u544a\u6570\u306f\u6570\u5341\u4f8b\u301c\u767e\u4f8b\u7a0b\u5ea6\u306e\u898f\u6a21\u3067\u3059\u3002<\/p>\n\n\n\n<p>1q41-q42\u9818\u57df\u306e\u6b20\u5931\u306f\u3001\u4e00\u822c\u7684\u306a\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u306f\u898b\u9003\u3055\u308c\u308b\u307b\u3069\u5fae\u7d30\u306a\u5834\u5408\u3082\u3042\u308a\u3001\u8fd1\u5e74\u306e\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306e\u666e\u53ca\u306b\u3088\u3063\u3066\u767a\u898b\u3055\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u65b0\u3057\u3044\u75be\u60a3\u5358\u4f4d\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u305f\u304c\u3063\u3066\u3001\u539f\u56e0\u4e0d\u660e\u306e\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u3084\u3066\u3093\u304b\u3093\u3001\u767a\u9054\u9045\u6ede\u3092\u6301\u3064\u60a3\u8005\u3055\u3093\u306e\u4e2d\u306b\u3001\u672a\u8a3a\u65ad\u306e\u307e\u307e\u542b\u307e\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u5b9f\u969b\u306e\u983b\u5ea6\u306f\u5831\u544a\u6570\u3088\u308a\u3082\u9ad8\u3044\u3068\u63a8\u6e2c\u3055\u308c\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>1q41-q42 deletion syndrome\u306e\u75c7\u72b6\u306f\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u304c\u3001\u300c\u6b63\u4e2d\u7dda\u306e\u5f62\u6210\u7570\u5e38\uff08Midline defects\uff09\u300d\u3001\u300c\u3066\u3093\u304b\u3093\u300d\u3001\u300c\u767a\u9054\u9045\u6ede\u300d\u3001**\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d**\u304c4\u5927\u5fb4\u5019\u3068\u8a00\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u3092\u5408\u4f75\u3059\u308b\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u3068\u3057\u3066\u91cd\u8981\u8996\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\uff08CDH\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e\u6700\u3082\u91cd\u7be4\u304b\u3064\u6ce8\u610f\u3059\u3079\u304d\u5408\u4f75\u75c7\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u75c5\u614b:<\/strong> \u80f8\u3068\u304a\u8179\u3092\u4ed5\u5207\u308b\u300c\u6a2a\u9694\u819c\u300d\u306b\u751f\u307e\u308c\u3064\u304d\u7a74\u304c\u958b\u3044\u3066\u304a\u308a\u3001\u8178\u3084\u80c3\u306a\u3069\u306e\u81d3\u5668\u304c\u80f8\u306e\u65b9\u3078\u5165\u308a\u8fbc\u3093\u3067\u3057\u307e\u3046\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f71\u97ff:<\/strong> \u80ba\u304c\u5727\u8feb\u3055\u308c\u308b\u305f\u3081\u3001\u80ba\u4f4e\u5f62\u6210\uff08\u80ba\u304c\u5c0f\u3055\u3044\uff09\u3084\u80ba\u9ad8\u8840\u5727\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u91cd\u7be4\u306a\u547c\u5438\u969c\u5bb3\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u95a2\u9023\u907a\u4f1d\u5b50:<\/strong> <em>HLX<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3092\u542b\u3080\u5834\u5408\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u767a\u9054\u30fb\u7cbe\u795e\u533b\u5b66\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\u3067\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u6ede\uff08DD\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u306e\u9045\u308c\u304c\u9855\u8457\u3067\u3059\u3002\u767a\u8a9e\u304c\u307b\u3068\u3093\u3069\u306a\u3044\uff08Non-verbal\uff09\u60a3\u8005\u3055\u3093\u3082\u3044\u308c\u3070\u3001\u77ed\u6587\u3067\u306e\u4f1a\u8a71\u304c\u53ef\u80fd\u306a\u65b9\u3082\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u904b\u52d5\u767a\u9054\uff08\u6b69\u884c\u958b\u59cb\u306a\u3069\uff09\u3082\u9045\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\uff08Seizures\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u60a3\u8005\u3055\u3093\u306e<strong>\u7d0450%\u4ee5\u4e0a<\/strong>\u306b\u898b\u3089\u308c\u308b\u975e\u5e38\u306b\u983b\u5ea6\u306e\u9ad8\u3044\u75c7\u72b6\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u767a\u75c7\u6642\u671f\u306f\u4e73\u5150\u671f\u304b\u3089\u5c0f\u5150\u671f\u304c\u591a\u304f\u3001\u6b20\u795e\u767a\u4f5c\u3001\u5168\u822c\u767a\u4f5c\u306a\u3069\u30bf\u30a4\u30d7\u306f\u69d8\u3005\u3067\u3059\u3002<\/li>\n\n\n\n<li><em>FBXO28<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u304f\u3001\u6cbb\u7642\u62b5\u6297\u6027\uff08\u96e3\u6cbb\u6027\uff09\u306e\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u85ac\u7269\u7642\u6cd5\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u53ef\u80fd\u306a\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u982d\u90e8\u30fb\u8133\u306e\u69cb\u9020\u7570\u5e38<\/strong><\/p>\n\n\n\n<p>\u4f53\u306e\u300c\u6b63\u4e2d\u7dda\uff08\u4e2d\u5fc3\uff09\u300d\u306e\u5f62\u6210\u4e0d\u5168\u304c\u8133\u306b\u3082\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8133\u6881\u6b20\u640d\u75c7\uff08Agenesis of the corpus callosum; ACC\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u53f3\u8133\u3068\u5de6\u8133\u3092\u3064\u306a\u3050\u300c\u8133\u6881\u300d\u304c\u6b20\u640d\u3001\u3042\u308b\u3044\u306f\u7d30\u3044\uff08\u4f4e\u5f62\u6210\uff09\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u982d\u56f2\u304c\u5c0f\u3055\u304f\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u9855\u8457\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u9854\u9762\u30fb\u53e3\u8154\u306e\u5f62\u6210\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53e3\u5507\u53e3\u84cb\u88c2\uff08Cleft lip\/palate\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5507\u3084\u4e0a\u3042\u3054\u306b\u88c2\u3051\u76ee\u304c\u3042\u308b\u72b6\u614b\u3067\u3059\u3002\u3053\u308c\u3082\u6b63\u4e2d\u7dda\u306e\u7652\u5408\u4e0d\u5168\u306e\u4e00\u7a2e\u3067\u3042\u308a\u3001<em>DISP1<\/em>\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u53e3\u84cb\u88c2\u306e\u307f\uff08\u7c98\u819c\u4e0b\u53e3\u84cb\u88c2\u306a\u3069\uff09\u306e\u5834\u5408\u3082\u3042\u308a\u3001\u54fa\u4e73\u969c\u5bb3\u306e\u539f\u56e0\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Dysmorphism\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u524d\u982d\u90e8\u304c\u7a81\u51fa\u3057\u3066\u3044\u308b\uff08\u304a\u3067\u3053\u304c\u51fa\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li>\u773c\u7403\u9665\u51f9\uff08\u76ee\u304c\u5965\u307e\u3063\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li>\u9f3b\u6839\u90e8\u304c\u5e83\u3044\u3001\u9f3b\u5148\u304c\u4e38\u3044\u307e\u305f\u306f\u56db\u89d2\u3044\u3002<\/li>\n\n\n\n<li>\u8584\u3044\u4e0a\u5507\u3002<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u4ecb\u306e\u5909\u5f62\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u3089\u306e\u7279\u5fb4\u306f\u3001\u30d5\u30ea\u30f3\u30ba\u75c7\u5019\u7fa4\u3068\u4f3c\u3066\u3044\u308b\u3068\u6307\u6458\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9aa8\u683c\u30fb\u56db\u80a2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u624b\u8db3\u304c\u5c0f\u3055\u3044\uff08Small hands and feet\uff09\u3002<\/li>\n\n\n\n<li>\u7b2c5\u6307\u306e\u77ed\u7e2e\u3084\u6e7e\u66f2\uff08\u5185\u6e7e\u6307\uff09\u3002<\/li>\n\n\n\n<li>\u5185\u53cd\u8db3\uff08Clubfoot\uff09\u3084\u722a\u306e\u4f4e\u5f62\u6210\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6210\u9577:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u8eab\u9577\uff08Short stature\uff09\u304c\u591a\u304f\u898b\u3089\u308c\u307e\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>\u814e\u81d3\u306e\u5f62\u6210\u7570\u5e38\uff08\u6c34\u814e\u75c7\u306a\u3069\uff09\u3001\u5fc3\u75be\u60a3\u3001\u505c\u7559\u7cbe\u5de3\uff08\u7537\u5150\uff09\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>1\u756a\u67d3\u8272\u4f53\u9577\u8155\uff081q41-q42\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff08Haploinsufficiency\uff09<\/strong><\/p>\n\n\n\n<p>\u901a\u5e382\u672c\u3042\u308b\u67d3\u8272\u4f53\u306e\u3046\u3061\u3001\u7247\u65b9\u306e1\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u3001\u305d\u3053\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u6570\u304c\u534a\u5206\uff081\u30b3\u30d4\u30fc\uff09\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306b\u3088\u308a\u3001\u4f5c\u3089\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u4e0d\u8db3\u3057\u3001\u6b63\u5e38\u306a\u767a\u751f\u30fb\u767a\u9054\u304c\u3067\u304d\u306a\u304f\u306a\u308b\u72b6\u614b\u3092\u300c\u30cf\u30d7\u30ed\u4e0d\u5168\u300d\u3068\u547c\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>DISP1\u3068SHH\u30b7\u30b0\u30ca\u30eb:<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>DISP1<\/em>\u907a\u4f1d\u5b50\u304c\u4e0d\u8db3\u3059\u308b\u3068\u3001\u7d30\u80de\u9593\u306e\u60c5\u5831\u4f1d\u9054\u7269\u8cea\u3067\u3042\u308b\u30bd\u30cb\u30c3\u30af\u30fb\u30d8\u30c3\u30b8\u30db\u30c3\u30b0\uff08SHH\uff09\u304c\u3046\u307e\u304f\u653e\u51fa\u30fb\u62e1\u6563\u3055\u308c\u307e\u305b\u3093\u3002SHH\u306f\u300c\u4f53\u306e\u4e2d\u5fc3\u3092\u6c7a\u3081\u308b\u300d\u300c\u9854\u3092\u4f5c\u308b\u300d\u300c\u8133\u3092\u5206\u3051\u308b\u300d\u3068\u3044\u3063\u305f\u521d\u671f\u767a\u751f\u306e\u91cd\u8981\u30a4\u30d9\u30f3\u30c8\u3092\u6307\u63ee\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u3053\u3053\u304c\u72c2\u3046\u3068\u53e3\u84cb\u88c2\u3084\u8133\u6881\u6b20\u640d\u306a\u3069\u306e\u6b63\u4e2d\u7dda\u7570\u5e38\u304c\u8d77\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>HLX\u3068\u6a2a\u9694\u819c:<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>HLX<\/em>\u907a\u4f1d\u5b50\u306f\u6a2a\u9694\u819c\u306e\u7b4b\u8089\u3084\u7d50\u5408\u7d44\u7e54\u306e\u767a\u9054\u306b\u5fc5\u9808\u3067\u3042\u308a\u3001\u4e0d\u8db3\u3059\u308b\u3068\u7a74\u304c\u585e\u304c\u3089\u305a\u3001\u30d8\u30eb\u30cb\u30a2\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/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:<\/strong>\n<ul class=\"wp-block-list\">\n<li>1q41-q42\u6b20\u5931\u75c7\u5019\u7fa4\u306e<strong>\u5927\u90e8\u5206<\/strong>\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\uff08\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6642\u3001\u307e\u305f\u306f\u53d7\u7cbe\u76f4\u5f8c\uff09\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u975e\u5e38\u306b\u4f4e\u3044\uff08\u4e00\u822c\u96c6\u56e3\u3068\u540c\u7a0b\u5ea6\uff09\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u89aa\u306e\u8ee2\u5ea7\u306a\u3069\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7a00\u306b\u3001\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u304c\u91cf\u306f\u6b63\u5e38\uff09\u300d\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u5834\u5408\u3001\u6e1b\u6570\u5206\u88c2\u306e\u969b\u306b\u4e0d\u5747\u8861\u304c\u751f\u3058\u3001\u5b50\u4f9b\u306b\u6b20\u5931\u304c\u907a\u4f1d\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u7279\u5fb4\u7684\u306a\u81e8\u5e8a\u75c7\u72b6\uff08\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u3001\u53e3\u84cb\u88c2\u3001\u3066\u3093\u304b\u3093\u306a\u3069\uff09\u306e\u7d44\u307f\u5408\u308f\u305b\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u304c\u3001\u75c7\u72b6\u304c\u591a\u5c90\u306b\u308f\u305f\u308b\u305f\u3081\u3001\u81e8\u5e8a\u8a3a\u65ad\u3060\u3051\u3067\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306f\u56f0\u96e3\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:<\/strong>\n<ul class=\"wp-block-list\">\n<li>1q41-q42\u9818\u57df\u306e\u5fae\u7d30\u6b20\u5931\u3092\u691c\u51fa\u3059\u308b\u305f\u3081\u306e**\u7b2c\u4e00\u9078\u629e\uff08\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff09**\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\uff08bp\u5358\u4f4d\uff09\u3068\u3001<em>DISP1<\/em>\u3001<em>HLX<\/em>\u3001<em>FBXO28<\/em>\u306a\u3069\u306e\u91cd\u8981\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u5408\u4f75\u75c7\u306e\u30ea\u30b9\u30af\u4e88\u6e2c\uff08\u4f8b\uff1aHLX\u304c\u6b20\u5931\u3057\u3066\u3044\u308c\u3070\u547c\u5438\u5668\u7cfb\u306e\u53b3\u91cd\u7ba1\u7406\u3001FBXO28\u306a\u3089\u3066\u3093\u304b\u3093\u6ce8\u610f\u306a\u3069\uff09\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u80ce\u5150\u30a8\u30b3\u30fc\u3084\u51fa\u751f\u5f8c\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\/CT\uff1a\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u306e\u8a3a\u65ad\u3002<\/li>\n\n\n\n<li>\u982d\u90e8MRI\uff1a\u8133\u6881\u6b20\u640d\u3084\u8133\u5f62\u6210\u7570\u5e38\u306e\u78ba\u8a8d\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\u751f\u547d\u306b\u95a2\u308f\u308b\u5408\u4f75\u75c7\u3078\u306e\u5916\u79d1\u7684\u4ecb\u5165\u3001\u75c7\u72b6\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3001\u305d\u3057\u3066\u767a\u9054\u3092\u4fc3\u3059\u7642\u80b2\u306e3\u672c\u67f1\u3067\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5916\u79d1\u7684\u6cbb\u7642\uff08\u751f\u547d\u4e88\u5f8c\u306b\u95a2\u308f\u308b\u3082\u306e\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\uff08CDH\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u306e\u547c\u5438\u7ba1\u7406\uff08\u4eba\u5de5\u547c\u5438\u5668\u3084ECMO\u306a\u3069\uff09\u3068\u3001\u72b6\u614b\u304c\u5b89\u5b9a\u3057\u305f\u6bb5\u968e\u3067\u306e\u5916\u79d1\u7684\u624b\u8853\uff08\u6a2a\u9694\u819c\u306e\u9589\u9396\u8853\uff09\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6700\u3082\u512a\u5148\u5ea6\u306e\u9ad8\u3044\u6cbb\u7642\u3067\u3042\u308a\u3001\u9ad8\u5ea6\u533b\u7642\u6a5f\u95a2\uff08NICU\/\u5c0f\u5150\u5916\u79d1\uff09\u3067\u306e\u7ba1\u7406\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u53e3\u5507\u53e3\u84cb\u88c2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f62\u6210\u5916\u79d1\u3084\u53e3\u8154\u5916\u79d1\u306b\u3088\u308a\u3001\u751f\u5f8c\u6570\u30f6\u6708\u301c1\u6b73\u9803\u306b\u304b\u3051\u3066\u9589\u9396\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8853\u5f8c\u306e\u8a00\u8a9e\u7642\u6cd5\u3084\u6b6f\u79d1\u77ef\u6b63\u3082\u9577\u671f\u7684\u306b\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5185\u79d1\u7684\u30fb\u795e\u7d4c\u5b66\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\u6cbb\u7642:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u6ce2\u691c\u67fb\u306b\u57fa\u3065\u304d\u3001\u767a\u4f5c\u578b\u306b\u5408\u3063\u305f\u6297\u3066\u3093\u304b\u3093\u85ac\u3092\u4f7f\u7528\u3057\u307e\u3059\u3002\u96e3\u6cbb\u6027\u306e\u5834\u5408\u306f\u3001\u8907\u6570\u306e\u85ac\u5264\u8abf\u6574\u3084\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\u306a\u3069\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u547c\u5438\u5668\u7ba1\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u8853\u5f8c\u3082\u3001\u80ba\u306e\u672a\u719f\u3055\u3084\u611f\u67d3\u75c7\u3078\u306e\u5f31\u3055\u304c\u6b8b\u308b\u5834\u5408\u304c\u3042\u308a\u3001\u9577\u671f\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\uff08\u30b7\u30ca\u30b8\u30b9\u6295\u4e0e\u306a\u3069\uff09\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \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>\u5168\u8eab\u72b6\u614b\u304c\u843d\u3061\u7740\u304d\u6b21\u7b2c\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6442\u98df\u6307\u5c0e:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u53e3\u84cb\u88c2\u3084\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u3088\u308b\u54fa\u4e73\u30fb\u6442\u98df\u969c\u5bb3\u306b\u5bfe\u3057\u3001\u5c02\u9580\u7684\u306a\u6307\u5c0e\u3084\u6804\u990a\u7ba1\u7406\uff08\u7d4c\u7ba1\u6804\u990a\u306a\u3069\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6559\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u3084\u3066\u3093\u304b\u3093\u306e\u72b6\u6cc1\u306b\u5408\u308f\u305b\u3001\u7279\u5225\u652f\u63f4\u5b66\u6821\u3084\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u3001\u533b\u7642\u7684\u30b1\u30a2\u306b\u3082\u5bfe\u5fdc\u3067\u304d\u308b\u6559\u80b2\u74b0\u5883\u3092\u9078\u629e\u3057\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>\u672c\u75be\u60a3\u306f\u5e0c\u5c11\u304b\u3064\u75c7\u72b6\u304c\u8907\u96d1\u3067\u3042\u308b\u305f\u3081\u3001\u3054\u5bb6\u65cf\u306f\u5927\u304d\u306a\u4e0d\u5b89\u3092\u62b1\u3048\u304c\u3061\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b21\u5b50\u306e\u518d\u767a\u30ea\u30b9\u30af\u3084\u3001\u5c06\u6765\u306e\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u76f8\u8ac7\u3057\u3001\u6b63\u78ba\u306a\u60c5\u5831\u3092\u5f97\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u306e\u65e2\u5f80\u304c\u3042\u308b\u5834\u5408\u3001\u6b21\u56de\u306e\u598a\u5a20\u6642\u306e\u7ba1\u7406\u306b\u3064\u3044\u3066\u3082\u76f8\u8ac7\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>1q41-q42 deletion syndrome\u306f\u30011\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u3001\u4f53\u306e\u4e2d\u5fc3\u90e8\u5206\u306e\u5f62\u6210\u3084\u795e\u7d4c\u306e\u767a\u9054\u306b\u5f71\u97ff\u304c\u51fa\u308b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u751f\u307e\u308c\u3064\u304d\u6a2a\u9694\u819c\u306b\u7a74\u304c\u958b\u3044\u3066\u3044\u308b\uff08CDH\uff09\u300d\u300c\u53e3\u84cb\u88c2\u304c\u3042\u308b\u300d\u300c\u3051\u3044\u308c\u3093\u767a\u4f5c\uff08\u3066\u3093\u304b\u3093\uff09\u304c\u3042\u308b\u300d\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u91cd\u306a\u3063\u305f\u6642\u306b\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u75c7\u72b6\u306e\u51fa\u65b9\u306f\u6b20\u5931\u306e\u7bc4\u56f2\u306b\u3088\u3063\u3066\u4e00\u4eba\u3072\u3068\u308a\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u51fa\u751f\u76f4\u5f8c\u306f\u624b\u8853\u3084\u547c\u5438\u7ba1\u7406\u306a\u3069\u3001\u547d\u3092\u5b88\u308b\u305f\u3081\u306e\u6cbb\u7642\u304c\u512a\u5148\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u306f\u8a66\u7df4\u306e\u6642\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u533b\u7642\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u3053\u308c\u3089\u306e\u8eab\u4f53\u7684\u306a\u554f\u984c\u306f\u4e57\u308a\u8d8a\u3048\u3089\u308c\u308b\u30b1\u30fc\u30b9\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u624b\u8853\u306a\u3069\u306e\u6025\u6027\u671f\u3092\u904e\u304e\u305f\u5f8c\u306f\u3001\u305d\u306e\u5b50\u306a\u308a\u306e\u30da\u30fc\u30b9\u3067\u306e\u767a\u9054\u3092\u652f\u3048\u308b\u300c\u7642\u80b2\u300d\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002\u8a00\u8449\u306f\u3086\u3063\u304f\u308a\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u8868\u60c5\u3084\u30b5\u30a4\u30f3\u3067\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u3068\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u3084\u767a\u9054\u306e\u3053\u3068\u306a\u3069\u3001\u9577\u671f\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u3067\u3059\u304c\u3001\u5c0f\u5150\u79d1\u533b\u3001\u5916\u79d1\u533b\u3001\u7642\u6cd5\u58eb\u3001\u305d\u3057\u3066\u5730\u57df\u306e\u652f\u63f4\u8005\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\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>Rosenfeld, J.A., et al.<\/strong> (2011). <em>1q41q42 microdeletions include a distinct phenotype with developmental delay, CNS anomalies, and midline defects.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b1q41-q42\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u6b63\u4e2d\u7dda\u6b20\u640d\u3001\u8133\u5f62\u6210\u7570\u5e38\u306a\u3069\uff09\u3092\u591a\u6570\u4f8b\u3067\u89e3\u6790\u3057\u3001\u75be\u60a3\u6982\u5ff5\u3092\u78ba\u7acb\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Kantaputra, P.N., et al.<\/strong> (2011). <em>Haploinsufficiency of the DISP1 gene is associated with cleft lip and palate and microcephaly.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203bDISP1\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u53e3\u5507\u53e3\u84cb\u88c2\u3084\u5c0f\u982d\u75c7\u306e\u4e3b\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u7a81\u304d\u6b62\u3081\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Slavotinek, A.M., et al.<\/strong> (2009). <em>Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\uff08CDH\uff09\u306e\u60a3\u8005\u306b\u304a\u3051\u308b\u67d3\u8272\u4f53\u89e3\u6790\u3092\u884c\u3044\u30011q41-q42\u9818\u57df\uff08\u7279\u306bHLX\u907a\u4f1d\u5b50\u4ed8\u8fd1\uff09\u304cCDH\u306e\u91cd\u8981\u9818\u57df\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Au, P.Y., et al.<\/strong> (2011). <em>Gene prioritization in 1q41q42 deletion syndrome identifies FBXO28 as a potential candidate for seizure susceptibility.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b1q41-q42\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308b\u300c\u3066\u3093\u304b\u3093\u300d\u306e\u539f\u56e0\u3068\u3057\u3066\u3001FBXO28\u907a\u4f1d\u5b50\u304c\u5019\u88dc\u3067\u3042\u308b\u3053\u3068\u3092\u7279\u5b9a\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Filges, I., et al.<\/strong> (2010). <em>Fatal outcome in a child with a de novo microdeletion 1q41q42 detected by array CGH.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u91cd\u7be4\u306a\u75c7\u4f8b\uff08Fryns\u75c7\u5019\u7fa4\u69d8\u8868\u73fe\u578b\uff09\u306e\u5831\u544a\u3092\u901a\u3058\u3066\u3001\u907a\u4f1d\u5b50\u578b\u3068\u8868\u73fe\u578b\u306e\u76f8\u95a2\u3092\u8003\u5bdf\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>DISP1<\/em>, <em>HLX<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5404\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff08\u6b20\u5931\uff09\u304c\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u306e\u79d1\u5b66\u7684\u6839\u62e0\u8a55\u4fa1\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-16905","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\/16905","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\/16905\/revisions"}],"predecessor-version":[{"id":16907,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16905\/revisions\/16907"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16905"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}