{"id":17297,"date":"2026-01-22T01:52:50","date_gmt":"2026-01-22T01:52:50","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17297"},"modified":"2026-01-22T08:18:30","modified_gmt":"2026-01-22T08:18:30","slug":"distal-trisomy-4q-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/distal-trisomy-4q-syndrome\/","title":{"rendered":"Distal trisomy 4q 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><strong>4q\u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc\u75c7\u5019\u7fa4\uff08Partial trisomy 4q syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>4q\u91cd\u8907\u75c7\u5019\u7fa4\uff084q duplication syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>4q31-qter \u91cd\u8907\u75c7\u5019\u7fa4<\/strong>\uff08\u203b\u91cd\u8907\u304c4q31\u9818\u57df\u304b\u3089\u672b\u7aef\u307e\u3067\u306e\u5834\u5408\uff09<\/li>\n\n\n\n<li><strong>\u67d3\u8272\u4f534\u756a\u3001\u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc4q<\/strong><\/li>\n<\/ul>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u30014\u756a\u67d3\u8272\u4f53\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u9060\u4f4d\uff08\u672b\u7aef\uff09\u90e8\u5206\u304c\u3001\u901a\u5e382\u672c\u306e\u3068\u3053\u308d3\u672c\u5b58\u5728\u3059\u308b\uff08\u30c8\u30ea\u30bd\u30df\u30fc\uff09\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002\u91cd\u8907\u306e\u8d77\u70b9\uff084q21\u30014q25\u30014q28\u30014q31\u306a\u3069\uff09\u306b\u3088\u3063\u3066\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u3084\u5408\u4f75\u75c7\u306e\u7bc4\u56f2\u306b\u500b\u4eba\u5dee\u304c\u51fa\u308b\u3053\u3068\u304c\u7279\u5fb4\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>4\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0928\u301c31\u9818\u57df\u304b\u3089\u672b\u7aef\uff08qter\uff09\u307e\u3067<\/strong><\/p>\n\n\n\n<p>\u901a\u5e38\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u300c\u9060\u4f4d\u90e8\u300d\u3068\u3057\u3066\u5b9a\u7fa9\u3055\u308c\u308b\u306e\u306f\u3001<strong>4q28.1\u30014q31\u3001\u3042\u308b\u3044\u306f4q32\u304b\u3089\u672b\u7aef\uff084qter\uff09\u307e\u3067<\/strong>\u306e\u9818\u57df\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30b2\u30ce\u30e0\u4e0a\u306e\u91cd\u8981\u6027\u3068\u8cac\u4efb\u9818\u57df<\/strong><\/p>\n\n\n\n<p>4\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u672b\u7aef\u306b\u306f\u3001\u8133\u306e\u521d\u671f\u767a\u9054\u3001\u9aa8\u683c\u306e\u5f62\u6210\u3001\u5185\u81d3\uff08\u7279\u306b\u5fc3\u81d3\u3001\u814e\u81d3\u3001\u6d88\u5316\u5668\uff09\u306e\u5206\u5316\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u907a\u4f1d\u5b50\u304c\u96c6\u4e2d\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>HAND2\u907a\u4f1d\u5b50 (4q34.1):<\/strong> \u5fc3\u81d3\u306e\u53f3\u5fc3\u5ba4\u5f62\u6210\u3084\u56db\u80a2\u306e\u767a\u9054\u306b\u4e0d\u53ef\u6b20\u306a\u8ee2\u5199\u56e0\u5b50\u3002\u3053\u306e\u907a\u4f1d\u5b50\u304c\u904e\u5270\u306b\u306a\u308b\u3053\u3068\u304c\u3001\u672c\u75c7\u5019\u7fa4\u3067\u898b\u3089\u308c\u308b\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306e\u4e3b\u8981\u306a\u539f\u56e0\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>CASP3\u907a\u4f1d\u5b50 (4q35.1):<\/strong> \u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\uff08\u7d30\u80de\u6b7b\uff09\u306b\u95a2\u4e0e\u3057\u3001\u8133\u306e\u795e\u7d4c\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u5f62\u6210\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>ADAMTS3\u907a\u4f1d\u5b50:<\/strong> \u30ea\u30f3\u30d1\u7ba1\u306e\u767a\u9054\u3084\u7d50\u5408\u7d44\u7e54\u306e\u5f62\u6210\u306b\u95a2\u308f\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u304c\u300c3\u30b3\u30d4\u30fc\u300d\u5b58\u5728\u3059\u308b\u3053\u3068\u3067\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5408\u6210\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\uff08\u907a\u4f1d\u5b50\u91cf\u52b9\u679c\uff09\u3001\u6b63\u5e38\u306a\u767a\u751f\u30d7\u30ed\u30bb\u30b9\u304c\u59a8\u3052\u3089\u308c\u308b\u3053\u3068\u304c\u767a\u75c7\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u6975\u3081\u3066\u7a00\uff08Ultra-rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u6709\u75c5\u7387\u306f\u4e0d\u660e\u3067\u3059\u304c\u3001\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u306b\u304a\u3044\u3066\u3082\u5831\u544a\u6570\u306f\u9650\u3089\u308c\u3066\u304a\u308a\u3001\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u75be\u60a3\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8a3a\u65ad\u306e\u50be\u5411:<\/strong> \u304b\u3064\u3066\u306f\u6a19\u6e96\u7684\u306a\u67d3\u8272\u4f53\u691c\u67fb\u3067\u898b\u9003\u3055\u308c\u3066\u3044\u305f\u5fae\u5c0f\u306a\u91cd\u8907\u3082\u3001\u8fd1\u5e74\u306e\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff08CMA\uff09\u306e\u666e\u53ca\u306b\u3088\u308a\u767a\u898b\u3055\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee:<\/strong> \u7537\u5973\u3067\u306e\u767a\u75c7\u983b\u5ea6\u306b\u6709\u610f\u306a\u5dee\u306f\u8a8d\u3081\u3089\u308c\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>Distal trisomy 4q syndrome\u306e\u81e8\u5e8a\u50cf\u306f\u3001\u91cd\u8907\u3057\u3066\u3044\u308b\u9818\u57df\u306e\u9577\u3055\u3068\u3001\u305d\u3053\u306b\u542b\u307e\u308c\u308b\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u306e\u6570\u306b\u4f9d\u5b58\u3057\u307e\u3059\u3002\u591a\u304f\u306e\u75c7\u4f8b\u3067\u5171\u901a\u3057\u3066\u898b\u3089\u308c\u308b\u7279\u5fb4\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u767a\u9054\u3068\u77e5\u7684\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3:<\/strong> \u307b\u307c\u5168\u3066\u306e\u75c7\u4f8b\u3067\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u77e5\u7684\u767a\u9054\u306e\u9045\u6ede\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u5ef6:<\/strong> \u8868\u51fa\u8a00\u8a9e\uff08\u8a71\u3059\u3053\u3068\uff09\u306e\u9045\u308c\u304c\u9855\u8457\u3067\u3001\u975e\u8a00\u8a9e\u7684\u306a\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u4e2d\u5fc3\u3068\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09:<\/strong> \u4e73\u5150\u671f\u306b\u5168\u8eab\u306e\u7b4b\u8089\u306e\u5f35\u308a\u304c\u5f31\u304f\u3001\u904b\u52d5\u767a\u9054\uff08\u9996\u3059\u308f\u308a\u3001\u6b69\u884c\u306a\u3069\uff09\u304c\u5927\u5e45\u306b\u9045\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong> \u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306b\u306f\u3001\u8a3a\u65ad\u306e\u793a\u5506\u3068\u306a\u308b\u7279\u6709\u306e\u9854\u7acb\u3061\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e83\u3044\u984d\u3068\u5e73\u5766\u306a\u5f8c\u982d\u90e8:<\/strong> \u524d\u982d\u90e8\u304c\u5f35\u308a\u51fa\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u306e\u7570\u5e38:<\/strong> \u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3001\u773c\u77bc\u88c2\u659c\u4e0b\uff08\u30bf\u30ec\u76ee\uff09\u3001\u4e0a\u773c\u77bc\u306e\u816b\u308c\u307c\u3063\u305f\u3055\u3001\u6642\u306b\u5c0f\u773c\u7403\u75c7\u3002<\/li>\n\n\n\n<li><strong>\u9f3b:<\/strong> \u9f3b\u6839\u90e8\u304c\u5e83\u304f\u5e73\u5766\u3067\u3001\u9f3b\u5148\u304c\u4e38\u3044\uff08\u7403\u72b6\u9f3b\uff09\u3001\u3042\u308b\u3044\u306f\u4e0a\u3092\u5411\u3044\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u53e3\u3068\u984e:<\/strong> \u5c0f\u984e\u75c7\uff08\u3042\u3054\u304c\u5c0f\u3055\u3044\uff09\u3001\u9ad8\u3044\u53e3\u84cb\uff08\u9ad8\u53e3\u84cb\uff09\u3001\u3042\u308b\u3044\u306f\u53e3\u84cb\u88c2\u3002<\/li>\n\n\n\n<li><strong>\u8033:<\/strong> \u4f4e\u4f4d\u4ed8\u7740\u8033\uff08\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\uff09\u3001\u8033\u4ecb\u306e\u5909\u5f62\uff08\u5927\u304d\u304f\u3001\u5f8c\u308d\u306b\u56de\u8ee2\u3057\u3066\u3044\u308b\u306a\u3069\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u6210\u9577\u969c\u5bb3<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80ce\u5185\u767a\u80b2\u4e0d\u5168\uff08IUGR\uff09:<\/strong> \u51fa\u751f\u6642\u304b\u3089\u4f53\u91cd\u3084\u8eab\u9577\u304c\u5c0f\u3055\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u51fa\u751f\u5f8c\u306e\u6210\u9577\u9045\u6ede:<\/strong> \u54fa\u4e73\u56f0\u96e3\u3084\u6d88\u5316\u5668\u306e\u554f\u984c\u3082\u91cd\u306a\u308a\u3001\u8eab\u9577\u30fb\u4f53\u91cd\u3068\u3082\u306b\u6210\u9577\u66f2\u7dda\u306e\u4e0b\u9650\u3092\u4e0b\u56de\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u9aa8\u683c\u304a\u3088\u3073\u80a2\u4f53\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6307\u306e\u7570\u5e38:<\/strong> \u91cd\u306a\u308a\u6307\uff08\u5c48\u6307\uff09\u3001\u89aa\u6307\u306e\u5f62\u6210\u4e0d\u5168\u3001\u3042\u308b\u3044\u306f\u6307\u304c\u901a\u5e38\u3088\u308a\u77ed\u3044\uff08\u77ed\u6307\u75c7\uff09\u3002<\/li>\n\n\n\n<li><strong>\u95a2\u7bc0\u306e\u62d8\u7e2e:<\/strong> \u751f\u307e\u308c\u3064\u304d\u95a2\u7bc0\u304c\u56fa\u307e\u3063\u3066\u3044\u3066\u52d5\u304b\u3057\u306b\u304f\u3044\u72b6\u614b\uff08\u5148\u5929\u6027\u591a\u767a\u6027\u95a2\u7bc0\u62d8\u7e2e\u69d8\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8db3\u306e\u5909\u5f62:<\/strong> \u5185\u53cd\u8db3\u3084\u63fa\u308a\u6905\u5b50\u72b6\u8db3\u5e95\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u5185\u81d3\u5408\u4f75\u75c7\uff08\u751f\u547d\u4e88\u5f8c\u306b\u95a2\u308f\u308b\u91cd\u8981\u56e0\u5b50\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08\u7d0450%\u4ee5\u4e0a\uff09:<\/strong> \u4e2d\u9694\u6b20\u640d\uff08VSD\u3001ASD\uff09\u3001\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u3001\u52d5\u8108\u7ba1\u958b\u5b58\u75c7\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u6ccc\u5c3f\u751f\u6b96\u5668\u5947\u5f62:<\/strong> \u814e\u6b20\u640d\u3001\u591a\u56a2\u80de\u6027\u7570\u5f62\u6210\u814e\u3001\u7537\u5150\u306b\u304a\u3051\u308b\u505c\u7559\u7cbe\u5de3\u3084\u5c3f\u9053\u4e0b\u88c2\u3002<\/li>\n\n\n\n<li><strong>\u6d88\u5316\u5668\u7570\u5e38:<\/strong> \u9589\u9396\u75c7\u3084\u56de\u8ee2\u7570\u5e38\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>4\u756a\u67d3\u8272\u4f53\u9577\u8155\u9060\u4f4d\u90e8\uff084q28-qter\uff09\u306e\u91cd\u8907\uff08\u30c8\u30ea\u30bd\u30df\u30fc\uff09<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u67d3\u8272\u4f53\u7570\u5e38\u304c\u767a\u751f\u3059\u308b\u80cc\u666f\u306b\u306f\u3001\u4e3b\u306b2\u3064\u306e\u30d1\u30bf\u30fc\u30f3\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5bb6\u65cf\u6027\u4e0d\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u7d0470%\uff09<\/strong><\/p>\n\n\n\n<p>\u6700\u3082\u591a\u3044\u539f\u56e0\u3067\u3059\u3002\u7247\u65b9\u306e\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u304c\u3001\u904e\u4e0d\u8db3\u304c\u306a\u3044\u305f\u3081\u672c\u4eba\u306f\u5065\u5eb7\uff09\u300d\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30e1\u30ab\u30cb\u30ba\u30e0:<\/strong> \u89aa\u306e\u751f\u6b96\u7d30\u80de\u304c\u3067\u304d\u308b\u969b\u306b\u3001\u67d3\u8272\u4f53\u304c\u4e0d\u5747\u7b49\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u3053\u3068\u3067\u30014q\u306e\u90e8\u5206\u304c\u4f59\u5206\u306b\u542b\u307e\u308c\u308b\u300c\u4e0d\u5747\u8861\u300d\u306a\u69cb\u6210\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u518d\u767a\u30ea\u30b9\u30af:<\/strong> \u89aa\u304c\u8ee2\u5ea7\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u6b21\u5b50\u306b\u3082\u67d3\u8272\u4f53\u7570\u5e38\u304c\u751f\u3058\u308b\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u306a\u308b\u305f\u3081\u3001\u8a73\u7d30\u306a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3068\u5bb6\u65cf\u8abf\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u65b0\u751f\u7a81\u7136\u5909\u7570\uff08De novo mutation\uff09<\/strong><\/p>\n\n\n\n<p>\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3059\u304c\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u306b\u91cd\u8907\u304c\u751f\u3058\u305f\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u518d\u767a\u30ea\u30b9\u30af:<\/strong> \u975e\u5e38\u306b\u4f4e\u3044\u3067\u3059\uff08\u4e00\u822c\u96c6\u56e3\u3068\u540c\u7b49\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u81e8\u5e8a\u7684\u306a\u7279\u5fb4\u304b\u3089\u672c\u75be\u60a3\u3092\u7591\u3044\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u67d3\u8272\u4f53\u6838\u578b\u5206\u6790\uff08G\u30d0\u30f3\u30c9\u5206\u67d3\u6cd5\uff09:<\/strong> \u67d3\u8272\u4f53\u5168\u4f53\u306e\u6570\u3084\u5927\u304d\u306a\u69cb\u9020\u5909\u5316\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<\/strong> <strong>\u73fe\u5728\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b\u7b2c\u4e00\u9078\u629e<\/strong>\u3067\u3059\u3002\u91cd\u8907\u3057\u3066\u3044\u308b\u6b63\u78ba\u306a\u7bc4\u56f2\u3068\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u3092100\u4e07\u5869\u57fa\uff08Mb\uff09\u4ee5\u4e0b\u306e\u7cbe\u5ea6\u3067\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>FISH\u6cd5:<\/strong> \u7279\u5b9a\u306e4q\u672b\u7aef\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u3066\u3001\u91cd\u8907\u3084\u8ee2\u5ea7\u306e\u6709\u7121\u3092\u8996\u899a\u7684\u306b\u78ba\u8a8d\u3057\u307e\u3059\u3002\u89aa\u306e\u691c\u67fb\u306b\u3082\u591a\u7528\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u73fe\u4ee3\u533b\u5b66\u306b\u304a\u3044\u3066\u91cd\u8907\u3057\u305f\u67d3\u8272\u4f53\u81ea\u4f53\u3092\u6cbb\u7642\u3059\u308b\u65b9\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u5404\u75c7\u72b6\u306b\u5bfe\u3059\u308b**\u300c\u5bfe\u75c7\u7642\u6cd5\u300d<strong>\u3068\u3001\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u308b\u305f\u3081\u306e<\/strong>\u300c\u65e9\u671f\u4ecb\u5165\u30fb\u7642\u80b2\u300d**\u304c\u67f1\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5916\u79d1\u7684\u4ecb\u5165<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u75be\u60a3\u306e\u624b\u8853:<\/strong> \u751f\u547d\u7dad\u6301\u306e\u305f\u3081\u306b\u3001\u65e9\u671f\u306e\u5916\u79d1\u7684\u77ef\u6b63\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f62\u6210\u5916\u79d1\u30fb\u6574\u5f62\u5916\u79d1:<\/strong> \u53e3\u84cb\u88c2\u306e\u9589\u9396\u3001\u95a2\u7bc0\u62d8\u7e2e\u306e\u89e3\u9664\u3001\u8db3\u306e\u5909\u5f62\u306b\u5bfe\u3059\u308b\u77ef\u6b63\u624b\u8853\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5185\u79d1\u7684\u30fb\u767a\u9054\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6442\u98df\u652f\u63f4:<\/strong> \u54fa\u4e73\u56f0\u96e3\u306b\u5bfe\u3057\u3001\u7d4c\u7ba1\u6804\u990a\u3084\u80c3\u763b\u306e\u691c\u8a0e\u3001\u8a00\u8a9e\u8074\u899a\u58eb\uff08ST\uff09\u306b\u3088\u308b\u56a5\u4e0b\u6307\u5c0e\u3002<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u304a\u3088\u3073\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3078\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\u3001\u7c97\u5927\u904b\u52d5\u304a\u3088\u3073\u5fae\u5c0f\u904b\u52d5\u306e\u767a\u9054\u652f\u63f4\u3001\u88c5\u5177\u306e\u6d3b\u7528\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<\/strong> \u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\uff08\u30b5\u30a4\u30f3\u3084\u7d75\u30ab\u30fc\u30c9\uff09\u306e\u5c0e\u5165\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5065\u5eb7\u7ba1\u7406\u3068\u6559\u80b2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b9a\u671f\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0:<\/strong> \u5fc3\u30a8\u30b3\u30fc\u3001\u814e\u30a8\u30b3\u30fc\u3001\u96e3\u8074\u306e\u30c1\u30a7\u30c3\u30af\u3001\u773c\u79d1\u691c\u8a3a\u3092\u7d99\u7d9a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5225\u652f\u63f4\u6559\u80b2:<\/strong> \u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u5408\u308f\u305b\u305f\u500b\u5225\u6559\u80b2\u652f\u63f4\u8a08\u753b\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c<\/strong><\/h2>\n\n\n\n<p>\u4e88\u5f8c\u306f\u5408\u4f75\u3059\u308b\u5185\u81d3\u5947\u5f62\uff08\u7279\u306b\u5fc3\u81d3\u3068\u814e\u81d3\uff09\u306e\u91cd\u75c7\u5ea6\u3001\u304a\u3088\u3073\u547c\u5438\u5668\u611f\u67d3\u75c7\u306e\u983b\u5ea6\u306b\u4f9d\u5b58\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9069\u5207\u306a\u5916\u79d1\u6cbb\u7642\u3068\u5468\u7523\u671f\u7ba1\u7406\u304c\u884c\u308f\u308c\u308c\u3070\u3001\u6210\u4eba\u671f\u307e\u3067\u751f\u5b58\u3059\u308b\u75c7\u4f8b\u3082\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e00\u751f\u3092\u901a\u3058\u3066\u65e5\u5e38\u751f\u6d3b\u306b\u30b5\u30dd\u30fc\u30c8\u3092\u5fc5\u8981\u3068\u3059\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u304c\u3001\u9069\u5207\u306a\u7642\u80b2\u306b\u3088\u3063\u3066\u305d\u308c\u305e\u308c\u306e\u30da\u30fc\u30b9\u3067\u767a\u9054\u3092\u9042\u3052\u3066\u3044\u304d\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>Distal trisomy 4q syndrome\uff084q\u9060\u4f4d\u90e8\u30c8\u30ea\u30bd\u30df\u30fc\u75c7\u5019\u7fa4\uff09\u306f\u30014\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u4f59\u5206\u306b\u3042\u308b\u3053\u3068\u3067\u3001\u5168\u8eab\u306e\u6210\u9577\u3084\u8133\u306e\u767a\u9054\u3001\u5185\u81d3\u306e\u5f62\u6210\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u5fc3\u81d3\u306e\u75c5\u6c17\u300d\u3084\u300c\u767a\u9054\u306e\u3086\u3063\u304f\u308a\u3055\u300d\u306a\u3069\u3001\u3054\u5bb6\u65cf\u304c\u76f4\u9762\u3059\u308b\u8ab2\u984c\u306f\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u73fe\u4ee3\u306e\u533b\u7642\u3067\u306f\u3001\u5404\u8a3a\u7642\u79d1\u306e\u5c02\u9580\u533b\u304c\u9023\u643a\u3057\u3001\u304a\u5b50\u69d8\u4e00\u4eba\u3072\u3068\u308a\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u6700\u9069\u306a\u30b1\u30a2\u3092\u63d0\u4f9b\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5e0c\u5c11\u75be\u60a3\u3086\u3048\u306b\u60c5\u5831\u304c\u5c11\u306a\u3044\u4e0d\u5b89\u3082\u3042\u308b\u304b\u3068\u601d\u3044\u307e\u3059\u304c\u3001\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u3084\u7279\u5225\u652f\u63f4\u306e\u8f2a\u306b\u5165\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u306e\u6301\u3064\u53ef\u80fd\u6027\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u3054\u5bb6\u65cf\u3060\u3051\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u533b\u7642\u30c1\u30fc\u30e0\u3084\u540c\u3058\u60a9\u307f\u3092\u6301\u3064\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u3068\u7e4b\u304c\u308a\u306a\u304c\u3089\u3001\u6b69\u3093\u3067\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\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>Andrle, M., et al.<\/strong> (1979). <em>The distal trisomy 4q syndrome. A distinct clinico-pathological entity.<\/em> Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff084q\u9060\u4f4d\u90e8\u30c8\u30ea\u30bd\u30df\u30fc\u3092\u81e8\u5e8a\u7684\u30fb\u75c5\u7406\u5b66\u7684\u306b\u660e\u78ba\u306a\u75be\u60a3\u3068\u3057\u3066\u5b9a\u7fa9\u3057\u305f\u521d\u671f\u306e\u91cd\u8981\u8ad6\u6587\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Stoll, C., et al.<\/strong> (1994). <em>Partial trisomy 4q: report of seven cases and review of the literature.<\/em> Clinical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u8907\u6570\u306e\u75c7\u4f8b\u5831\u544a\u3068\u904e\u53bb\u306e\u6587\u732e\u30ec\u30d3\u30e5\u30fc\u306b\u3088\u308a\u3001\u672c\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3092\u6574\u7406\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Cetin, Z., et al.<\/strong> (2012). <em>Molecular cytogenetic characterization of a de novo distal trisomy 4q.<\/em> Case Reports in Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u306a\u3069\u306e\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u7528\u3044\u305f\u6700\u65b0\u306e\u8a3a\u65ad\u624b\u6cd5\u3068\u75c7\u4f8b\u63d0\u793a\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>4q trisomy \/ duplication<\/em>. (<a href=\"https:\/\/www.rarechromo.org\/\">https:\/\/www.rarechromo.org\/<\/a>)\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\u306e\u5bb6\u65cf\u5411\u3051\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u3001\u751f\u6d3b\u306b\u5373\u3057\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Chromosomal Duplication Syndromes<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u67d3\u8272\u4f53\u91cd\u8907\u5168\u822c\u306e\u7ba1\u7406\u6307\u91dd\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u95a2\u3059\u308b\u6a19\u6e96\u7684\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>OMIM (Online Mendelian Inheritance in Man)<\/strong>: <em>#600000 CHROMOSOME 4q DISTAL TRISOMY SYNDROME<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u672c\u75be\u60a3\u306e\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u3001\u75c7\u4f8b\u3001\u907a\u4f1d\u5b50\u5ea7\u306b\u95a2\u3059\u308b\u5b66\u8853\u7684\u60c5\u5831\u3092\u7db2\u7f85\u3057\u305f\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\uff09<\/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","protected":false},"featured_media":0,"template":"","class_list":["post-17297","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\/17297","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\/17297\/revisions"}],"predecessor-version":[{"id":17594,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17297\/revisions\/17594"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17297"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}