{"id":17072,"date":"2026-01-21T06:04:00","date_gmt":"2026-01-21T06:04:00","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17072"},"modified":"2026-01-21T06:04:00","modified_gmt":"2026-01-21T06:04:00","slug":"4q-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/4q-deletion-syndrome\/","title":{"rendered":"4q 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>4q\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>4q-\u75c7\u5019\u7fa4\uff084q minus syndrome\uff09<\/li>\n\n\n\n<li>4\u756a\u67d3\u8272\u4f53\u9577\u8155\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>\u90e8\u5206\u76844q\u30e2\u30ce\u30bd\u30df\u30fc\uff08Partial monosomy 4q\uff09<\/li>\n\n\n\n<li>4q31\u6b20\u5931\u75c7\u5019\u7fa4 \/ 4q32\u6b20\u5931\u75c7\u5019\u7fa4 \/ 4q33\u6b20\u5931\u75c7\u5019\u7fa4 \u7b49\n<ul class=\"wp-block-list\">\n<li>\u203b\u6b20\u5931\u3057\u3066\u3044\u308b\u5177\u4f53\u7684\u306a\u30d0\u30f3\u30c9\u540d\u3067\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\uff08Pierre Robin sequence\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75c7\u5019\u7fa4\u306e\u7d04\u534a\u6570\u4ee5\u4e0a\u306e\u60a3\u8005\u3055\u3093\u306b\u5408\u4f75\u3059\u308b\u3001\u5c0f\u984e\u30fb\u820c\u6839\u6c88\u4e0b\u30fb\u53e3\u84cb\u88c2\u306e\u4e00\u9023\u306e\u75c7\u72b6\u7fa4\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a4q21\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\n<ul class=\"wp-block-list\">\n<li>\u203b4q\u306e\u4e2d\u9593\u90e8\uff0821\u9818\u57df\uff09\u306e\u6b20\u5931\u306f\u3001\u72ec\u7279\u306e\u9854\u8c8c\u3084\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u306a\u3069\u3001\u672b\u7aef\u6b20\u5931\u3068\u306f\u5c11\u3057\u7570\u306a\u308b\u7279\u5fb4\u3092\u6301\u3064\u305f\u3081\u3001\u533a\u5225\u3057\u3066\u8b70\u8ad6\u3055\u308c\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>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>4\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff09\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e4\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\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\u308b\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u5019\u7fa4\u306e\u7dcf\u79f0\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6b20\u5931\u3059\u308b\u5834\u6240\u3084\u5927\u304d\u3055\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u5927\u304d\u304f\u5206\u3051\u3066\u4ee5\u4e0b\u306e2\u3064\u306e\u30bf\u30a4\u30d7\u306b\u5206\u985e\u3057\u3066\u8003\u3048\u308b\u3053\u3068\u304c\u3001\u75c7\u72b6\u3092\u7406\u89e3\u3059\u308b\u4e0a\u3067\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u4e2d\u9593\u6b20\u5931\uff08Interstitial deletion\uff09\uff1a<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u306e\u9014\u4e2d\uff08\u4f8b\u3048\u30704q11\u304b\u30894q31\u306e\u9593\u306a\u3069\uff09\u304c\u629c\u3051\u3066\u3044\u308b\u30bf\u30a4\u30d7\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b<strong>4q21\u9818\u57df<\/strong>\u306e\u6b20\u5931\u306f\u3001\u72ec\u7279\u306e\u9854\u8c8c\uff08\u5e83\u3044\u984d\u3001\u77ed\u3044\u9f3b\uff09\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3001\u8457\u3057\u3044\u6210\u9577\u969c\u5bb3\u3092\u7279\u5fb4\u3068\u3059\u308b\u72ec\u7acb\u3057\u305f\u75c7\u5019\u7fa4\u3068\u3057\u3066\u6271\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001<strong>4q12\u9818\u57df<\/strong>\u306b\u306f<em>KIT<\/em>\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u3053\u3053\u304c\u6b20\u5931\u3059\u308b\u3068\u300c\u307e\u3060\u3089\u75c7\uff08Piebaldism\uff1a\u524d\u9aea\u306e\u767d\u9aea\u3084\u76ae\u819a\u306e\u767d\u6591\uff09\u300d\u3092\u5408\u4f75\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u672b\u7aef\u6b20\u5931\uff08Terminal \/ Distal deletion\uff09\uff1a<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u672c\u7a3f\u3067\u4e3b\u306b\u89e3\u8aac\u3059\u308b\u30bf\u30a4\u30d7\u3067\u3059\u3002<\/strong><\/li>\n\n\n\n<li>4\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306e\u5f8c\u534a\u90e8\u5206\uff084q31\u304b\u3089\u672b\u7aef\u306e4q35\u306b\u304b\u3051\u3066\uff09\u304c\u542b\u307e\u308c\u308b\u6b20\u5931\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u9818\u57df\uff08\u7279\u306b<strong>4q33<\/strong>\u4ed8\u8fd1\uff09\u306b\u306f\u3001\u5fc3\u81d3\u3084\u56db\u80a2\u3001\u53e3\u84cb\u306e\u5f62\u6210\u306b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u7fa4\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u30014q\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u308b\u75c7\u4f8b\u306e\u591a\u304f\u304c\u3053\u306e\u30bf\u30a4\u30d7\u306b\u8a72\u5f53\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\uff08\u8cac\u4efb\u907a\u4f1d\u5b50\uff09\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>HAND2:<\/strong> 4q33-q34\u306b\u4f4d\u7f6e\u3002\u5fc3\u81d3\u306e\u767a\u751f\u3001\u56db\u80a2\uff08\u7279\u306b\u89aa\u6307\u3084\u5c0f\u6307\uff09\u306e\u5f62\u6210\u3001\u4e0b\u984e\u306e\u767a\u9054\u306b\u4e0d\u53ef\u6b20\u306a\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u306a\u75c7\u72b6\uff08\u5fc3\u75be\u60a3\u3001\u5c0f\u984e\u75c7\u3001\u56db\u80a2\u7570\u5e38\uff09\u306e\u76f4\u63a5\u7684\u306a\u539f\u56e0\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>BMPR1B:<\/strong> \u9aa8\u683c\u5f62\u6210\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3001\u6307\u306e\u7570\u5e38\u306a\u3069\u306b\u95a2\u4e0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>SORBS2:<\/strong> \u77e5\u7684\u767a\u9054\u3084\u5fc3\u6a5f\u80fd\u306b\u95a2\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u7a00\uff08Rare\uff09<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u306b\u304a\u3051\u308b\u5831\u544a\u6570\u306f\u3001\u5168\u30bf\u30a4\u30d7\u5408\u308f\u305b\u3066\u3082\u6570\u767e\u4f8b\u7a0b\u5ea6\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u51fa\u751f100,000\u4eba\u306b1\u4eba\u7a0b\u5ea6\u306e\u983b\u5ea6\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u75c7\u72b6\u304c\u8efd\u5fae\u306a\u5834\u5408\u3084\u3001\u9006\u306b\u91cd\u7be4\u3067\u6d41\u7523\u306b\u81f3\u308b\u5834\u5408\u306a\u3069\u3082\u3042\u308a\u3001\u6b63\u78ba\u306a\u5b9f\u6570\u306f\u4e0d\u660e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u67d3\u8272\u4f53\u69cb\u9020\u7570\u5e38\u306e\u4e2d\u3067\u306f\u6bd4\u8f03\u7684\u77e5\u3089\u308c\u305f\u75be\u60a3\u306e\u4e00\u3064\u3067\u3059\u304c\u3001\u5e0c\u5c11\u75be\u60a3\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6027\u5225\u306b\u3088\u308b\u767a\u751f\u983b\u5ea6\u306e\u5dee\u306f\u306a\u304f\u3001\u7537\u5150\u306b\u3082\u5973\u5150\u306b\u3082\u767a\u751f\u3057\u307e\u3059\u3002<\/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>4q deletion syndrome\uff08\u7279\u306b\u9060\u4f4d\u6b20\u5931\uff09\u306e\u75c7\u72b6\u306f\u3001**\u300c\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\uff08\u5c0f\u984e\u30fb\u53e3\u84cb\u88c2\uff09\u300d\u300c\u5148\u5929\u6027\u5fc3\u75be\u60a3\u300d\u300c\u56db\u80a2\u306e\u7570\u5e38\u300d\u300c\u767a\u9054\u9045\u6ede\u300d**\u304c4\u5927\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u6b20\u5931\u7bc4\u56f2\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u500b\u4eba\u5dee\u304c\u975e\u5e38\u306b\u5927\u304d\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u982d\u84cb\u9854\u9762\u30fb\u53e3\u8154\u306e\u7279\u5fb4\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u6700\u3082\u7279\u5fb4\u7684\u3067\u3042\u308a\u3001\u51fa\u751f\u76f4\u5f8c\u306e\u30b1\u30a2\u304c\u5fc5\u8981\u3068\u306a\u308b\u90e8\u5206\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\uff08Pierre Robin sequence\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u60a3\u8005\u3055\u3093\u306e<strong>\u7d0470\u301c90%<\/strong>\uff08\u7279\u306b4q32-q33\u6b20\u5931\u3092\u542b\u3080\u5834\u5408\uff09\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u984e\u75c7\uff08Micrognathia\uff09\uff1a<\/strong> \u3042\u3054\u304c\u6975\u7aef\u306b\u5c0f\u3055\u3044\u3002<\/li>\n\n\n\n<li><strong>\u820c\u6839\u6c88\u4e0b\uff08Glossoptosis\uff09\uff1a<\/strong> \u3042\u3054\u304c\u5c0f\u3055\u3044\u305f\u3081\u306b\u820c\u304c\u5589\u306e\u5965\u306b\u843d\u3061\u8fbc\u307f\u3001\u6c17\u9053\u3092\u585e\u3044\u3067\u547c\u5438\u56f0\u96e3\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u53e3\u84cb\u88c2\uff08Cleft palate\uff09\uff1a<\/strong> \u820c\u304c\u90aa\u9b54\u3092\u3057\u3066\u53e3\u306e\u5929\u4e95\uff08\u53e3\u84cb\uff09\u304c\u9589\u3058\u305a\u3001\u5272\u308c\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77ed\u3044\u9f3b\u3001\u5e73\u5766\u306a\u9f3b\u6839\u90e8\u3002<\/li>\n\n\n\n<li>\u7709\u6bdb\u304c\u8584\u3044\u3001\u3042\u308b\u3044\u306f\u4e00\u90e8\u6b20\u640d\u3057\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li>\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3002<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\uff08\u4f4e\u4f4d\u4ed8\u7740\u8033\uff09\u3001\u8033\u4ecb\u306e\u5909\u5f62\u3002<\/li>\n\n\n\n<li>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u56db\u80a2\u30fb\u9aa8\u683c\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<p>\u624b\u8db3\u306e\u7279\u5fb4\u306f\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6307\u306e\u7570\u5e38\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u7b2c5\u6307\u306e\u7570\u5e38\uff1a<\/strong> \u5c0f\u6307\u304c\u5185\u5074\u306b\u66f2\u304c\u3063\u3066\u3044\u308b\uff08\u5f2f\u6307\uff09\u3001\u3042\u308b\u3044\u306f\u5c0f\u6307\u306e\u95a2\u7bc0\u304c\u4e00\u3064\u8db3\u308a\u306a\u3044\u3001\u722a\u304c\u5c0f\u3055\u3044\u306a\u3069\u306e\u7279\u5fb4\u304c\u9ad8\u983b\u5ea6\u3067\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u89aa\u6307\u306e\u7570\u5e38\uff1a<\/strong> \u89aa\u6307\u306e\u4f4d\u7f6e\u304c\u304a\u304b\u3057\u3044\u3001\u3042\u308b\u3044\u306f\u89aa\u6307\u306e\u95a2\u7bc0\u304c\u591a\u3044\uff08\u4e09\u6307\u7bc0\u6bcd\u6307\uff09\u306a\u3069\u306e\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u624b\u9996\u30fb\u8db3\u9996\u306e\u7570\u5e38\uff1a<\/strong> \u624b\u9996\u306e\u9aa8\u306e\u7652\u5408\u3084\u3001\u5185\u53cd\u8db3\uff08\u8db3\u304c\u5185\u5074\u3092\u5411\u3044\u3066\u3044\u308b\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>\u6210\u9577\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5b50\u5bae\u5185\u767a\u80b2\u9045\u5ef6\uff08IUGR\uff09\uff1a<\/strong> \u51fa\u751f\u4f53\u91cd\u304c\u5c0f\u3055\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u51fa\u751f\u5f8c\u306e\u6210\u9577\u969c\u5bb3\uff1a<\/strong> \u5168\u4f53\u7684\u306b\u5c0f\u67c4\u3067\u3001\u4f4e\u8eab\u9577\u3068\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5fc3\u8840\u7ba1\u7cfb\u306e\u7570\u5e38\uff08Congenital Heart Defects\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u60a3\u8005\u3055\u3093\u306e**\u7d0450%**\u306b\u5148\u5929\u6027\u5fc3\u75be\u60a3\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306f<em>HAND2<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u5927\u304d\u304f\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e3b\u306a\u75be\u60a3\uff1a<\/strong> \u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\uff08ToF\uff09\u3001\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u3001\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09\u3001\u80ba\u52d5\u8108\u5f01\u72ed\u7a84\u75c7\u306a\u3069\u3002<\/li>\n\n\n\n<li>\u8907\u96d1\u306a\u5fc3\u5947\u5f62\u3092\u4f34\u3046\u5834\u5408\u3082\u3042\u308a\u3001\u65e9\u671f\u306e\u5faa\u74b0\u5668\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09 \/ \u767a\u9054\u9045\u6ede\uff08DD\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u9045\u6ede:<\/strong> \u7279\u306b\u8a00\u8449\u306e\u9045\u308c\u304c\u9855\u8457\u3067\u3059\u3002\u53e3\u84cb\u88c2\u3084\u96e3\u8074\u304c\u3042\u308b\u5834\u5408\u3001\u3055\u3089\u306b\u767a\u8a9e\u304c\u9045\u308c\u308b\u8981\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\u9045\u6ede:<\/strong> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09\u304c\u3042\u308a\u3001\u9996\u3059\u308f\u308a\u3084\u6b69\u884c\u958b\u59cb\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7a4f\u3084\u304b\u306a\u6027\u683c\u306e\u304a\u5b50\u3055\u3093\u304c\u591a\u3044\u4e00\u65b9\u3001\u4e00\u90e8\u3067\u591a\u52d5\u3001\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u50be\u5411\u3001\u4e0d\u5b89\u306e\u5f37\u3055\u306a\u3069\u304c\u898b\u3089\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>\u547c\u5438\u5668:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\u306b\u3088\u308b\u4e0a\u6c17\u9053\u9589\u585e\u306b\u52a0\u3048\u3001\u6c17\u7ba1\u8edf\u5316\u75c7\u306a\u3069\u3092\u5408\u4f75\u3057\u3001\u547c\u5438\u7ba1\u7406\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6d88\u5316\u5668:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u80c3\u98df\u9053\u9006\u6d41\u75c7\uff08GERD\uff09\u3084\u3001\u54fa\u4e73\u56f0\u96e3\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u814e\u30fb\u6ccc\u5c3f\u5668:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6c34\u814e\u75c7\u3001\u505c\u7559\u7cbe\u5de3\uff08\u7537\u5150\uff09\u3001\u5c3f\u9053\u4e0b\u88c2\u306a\u3069\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>4\u756a\u67d3\u8272\u4f53\u9577\u8155\uff084q\uff09\u306b\u304a\u3051\u308b\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>4q\u6b20\u5931\u75c7\u5019\u7fa4\u306e<strong>\u5927\u591a\u6570<\/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\uff081%\u672a\u6e80\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\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\uff09\u300d\u3084\u300c\u9006\u4f4d\u300d\u306a\u3069\u306e\u69cb\u9020\u7570\u5e38\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u5408\u3001\u89aa\u306f\u5065\u5eb7\u3067\u3059\u304c\u3001\u5b50\u306b\u4e0d\u5747\u8861\u306a\u6b20\u5931\u304c\u751f\u3058\u308b\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>4q\u6b20\u5931\u306e\u5834\u5408\u3001\u67d3\u8272\u4f53\u306e\u672b\u7aef\u306b\u8fd1\u3044\u6b20\u5931\uff08Subtelomeric deletion\uff09\u304c\u89aa\u306e\u8ee2\u5ea7\u306b\u7531\u6765\u3059\u308b\u30b1\u30fc\u30b9\u3082\u6563\u898b\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u30cf\u30d7\u30ed\u4e0d\u5168\u3068\u8cac\u4efb\u9818\u57df<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7814\u7a76\u306b\u3088\u308a\u30014q33\u30d0\u30f3\u30c9\u4ed8\u8fd1\u306e\u6b20\u5931\u304c\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\uff08\u5fc3\u75be\u60a3\u3001\u5c0f\u984e\u3001\u6307\u306e\u7570\u5e38\uff09\u306e\u4e2d\u6838\u3092\u306a\u3059\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b<em>HAND2<\/em>\u907a\u4f1d\u5b50\u304c\u7247\u65b9\u306a\u304f\u306a\u308b\u3053\u3068\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u308b\u5f71\u97ff\u304c\u5927\u304d\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u9006\u306b\u3001\u3055\u3089\u306b\u672b\u7aef\u306e4q34-q35\u306e\u307f\u306e\u6b20\u5931\u3067\u306f\u3001\u3053\u308c\u3089\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u304c\u51fa\u306b\u304f\u3044\uff08\u8efd\u75c7\u3067\u3042\u308b\uff09\u3053\u3068\u3082\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3064\u307e\u308a\u3001\u300c\u3069\u3053\u304c\u6b20\u3051\u3066\u3044\u308b\u304b\u300d\u304c\u4e88\u5f8c\u3092\u5927\u304d\u304f\u5de6\u53f3\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u300c\u5c0f\u984e\u30fb\u53e3\u84cb\u88c2\u300d\u300c\u5fc3\u75be\u60a3\u300d\u300c\u5c0f\u6307\u306e\u7570\u5e38\u300d\u306e\u7d44\u307f\u5408\u308f\u305b\u304b\u3089\u7591\u308f\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\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b**\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff08\u7b2c\u4e00\u9078\u629e\uff09**\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>4q\u9818\u57df\u306e\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u7bc4\u56f2\uff08bp\u5358\u4f4d\uff09\u3068\u3001<em>HAND2<\/em>\u907a\u4f1d\u5b50\u306a\u3069\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u7bc4\u56f2\u3092\u77e5\u308b\u3053\u3068\u306f\u3001\u4e88\u5f8c\uff08\u5fc3\u75be\u60a3\u306e\u30ea\u30b9\u30af\u3084\u767a\u9054\u306e\u898b\u901a\u3057\uff09\u3092\u4e88\u6e2c\u3059\u308b\u4e0a\u3067\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>G\u30d0\u30f3\u30c9\u67d3\u8272\u4f53\u691c\u67fb\uff08\u6838\u578b\u5206\u6790\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u30b5\u30a4\u30ba\u304c\u5927\u304d\u3044\u5834\u5408\uff08\u6570Mb\u4ee5\u4e0a\uff09\u3001\u9855\u5fae\u93e1\u306b\u3088\u308b\u3053\u306e\u691c\u67fb\u3067\u3082\u8a3a\u65ad\u53ef\u80fd\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u8981:<\/strong> \u304a\u5b50\u3055\u3093\u306e\u8a3a\u65ad\u304c\u3064\u3044\u305f\u5834\u5408\u3001<strong>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb<\/strong>\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u5bb6\u65cf\u6027\u8ee2\u5ea7\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u691c\u67fb\uff08\u30a8\u30b3\u30fc\u30fbCT\/MRI\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u81d3\u306e\u5947\u5f62\u3001\u814e\u81d3\u306e\u69cb\u9020\u3001\u8133\u306e\u69cb\u9020\u3001\u6c17\u9053\u306e\u72b6\u614b\uff08\u984e\u306e\u5c0f\u3055\u3055\u306b\u3088\u308b\u9589\u585e\u5177\u5408\uff09\u3092\u8a55\u4fa1\u3057\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>\u6b20\u5931\u3057\u305f\u67d3\u8272\u4f53\u3092\u4fee\u5fa9\u3059\u308b\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\uff08\u547c\u5438\u30fb\u5fc3\u81d3\uff09\u306e\u6025\u6027\u671f\u7ba1\u7406\u3068\u3001\u767a\u9054\u3092\u652f\u3048\u308b\u9577\u671f\u7684\u7642\u80b2\u306e2\u672c\u67f1\u3067\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u547c\u5438\u30fb\u6804\u990a\u7ba1\u7406\uff08\u65b0\u751f\u5150\u671f\u301c\u4e73\u5150\u671f\uff09<\/strong><\/p>\n\n\n\n<p>\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\u304c\u3042\u308b\u5834\u5408\u3001\u3053\u3053\u304c\u6700\u512a\u5148\u8ab2\u984c\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f53\u4f4d\u7ba1\u7406:<\/strong> \u8179\u81e5\u4f4d\uff08\u3046\u3064\u4f0f\u305b\u5bdd\uff09\u306b\u3059\u308b\u3053\u3068\u3067\u3001\u820c\u304c\u524d\u306b\u843d\u3061\u3001\u6c17\u9053\u3092\u78ba\u4fdd\u3057\u307e\u3059\uff08\u5074\u81e5\u4f4d\u306e\u5834\u5408\u3082\u3042\u308a\uff09\u3002<\/li>\n\n\n\n<li><strong>\u7d4c\u9f3b\u30a8\u30a2\u30a6\u30a7\u30a4:<\/strong> \u9f3b\u304b\u3089\u30c1\u30e5\u30fc\u30d6\u3092\u5165\u308c\u3066\u6c17\u9053\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u624b\u8853\u7642\u6cd5:<\/strong> \u547c\u5438\u969c\u5bb3\u304c\u91cd\u5ea6\u306e\u5834\u5408\u3001\u820c\u5507\u7652\u7740\u8853\u3084\u3001\u4e0b\u984e\u5ef6\u9577\u8853\uff08\u9aa8\u5ef6\u9577\uff09\u3092\u884c\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6804\u990a:<\/strong> \u53e3\u84cb\u88c2\u3084\u547c\u5438\u969c\u5bb3\u306b\u3088\u308a\u54fa\u4e73\u304c\u96e3\u3057\u3044\u305f\u3081\u3001\u5c02\u7528\u306e\u4e73\u9996\u306e\u4f7f\u7528\u3084\u3001\u7d4c\u7ba1\u6804\u990a\uff08\u9f3b\u30c1\u30e5\u30fc\u30d6\uff09\u3067\u6804\u990a\u3092\u78ba\u4fdd\u3057\u3001\u4f53\u91cd\u5897\u52a0\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53e3\u84cb\u88c2\u624b\u8853:<\/strong> 1\u6b73\u301c1\u6b73\u534a\u9803\u306b\u3001\u53e3\u84cb\u3092\u9589\u9396\u3059\u308b\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002\u305d\u306e\u5f8c\u3001\u8a00\u8a9e\u7642\u6cd5\u306b\u3064\u306a\u3052\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u81d3\u624b\u8853:<\/strong> \u5fc3\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u3001\u5faa\u74b0\u5668\u5c02\u9580\u533b\u306e\u5224\u65ad\u306b\u3088\u308a\u3001\u9069\u5207\u306a\u6642\u671f\u306b\u6839\u6cbb\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1:<\/strong> \u624b\u8db3\u306e\u5909\u5f62\uff08\u5185\u53cd\u8db3\u306a\u3069\uff09\u306b\u5bfe\u3057\u3001\u88c5\u5177\u7642\u6cd5\u3084\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/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>\u8a3a\u65ad\u5f8c\u3001\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>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u91cd\u8981\u8ab2\u984c\u306e\u4e00\u3064<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u53e3\u84cb\u88c2\u306b\u3088\u308b\u69cb\u97f3\u969c\u5bb3\uff08\u767a\u97f3\u306e\u3057\u306b\u304f\u3055\uff09\u3068\u3001\u767a\u9054\u9045\u6ede\u306b\u3088\u308b\u8a00\u8a9e\u7372\u5f97\u306e\u9045\u308c\u306e\u4e21\u9762\u304b\u3089\u30a2\u30d7\u30ed\u30fc\u30c1\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30b5\u30a4\u30f3\u3084\u7d75\u30ab\u30fc\u30c9\u306a\u3069\u306eAAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09\u3082\u7a4d\u6975\u7684\u306b\u6d3b\u7528\u3057\u3001\u300c\u4f1d\u3048\u305f\u3044\u300d\u610f\u6b32\u3092\u80b2\u3066\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>\u7279\u5225\u652f\u63f4\u5b66\u6821\u3084\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u3001\u304a\u5b50\u3055\u3093\u306e\u767a\u9054\u6bb5\u968e\u3084\u533b\u7642\u7684\u30b1\u30a2\u306e\u6709\u7121\u306b\u5408\u308f\u305b\u305f\u6559\u80b2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u306e\u7d50\u679c\u306b\u57fa\u3065\u304d\u3001\u6b21\u5b50\u306e\u518d\u767a\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u8aac\u660e\u3092\u53d7\u3051\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u9577\u671f\u7684\u306a\u898b\u901a\u3057\u3084\u3001\u5229\u7528\u3067\u304d\u308b\u798f\u7949\u5236\u5ea6\uff08\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u3001\u80b2\u6210\u533b\u7642\u306a\u3069\uff09\u306b\u3064\u3044\u3066\u306e\u60c5\u5831\u3092\u6574\u7406\u3057\u3001\u5bb6\u65cf\u306e\u751f\u6d3b\u8a2d\u8a08\u3092\u30b5\u30dd\u30fc\u30c8\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>4q deletion syndrome\u306f\u30014\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u304a\u5b50\u3055\u3093\u306f\u3001\u751f\u307e\u308c\u305f\u6642\u306b\u3042\u3054\u304c\u5c0f\u3055\u304b\u3063\u305f\u308a\u3001\u304a\u53e3\u306e\u5929\u4e95\u304c\u5272\u308c\u3066\u3044\u305f\u308a\uff08\u53e3\u84cb\u88c2\uff09\u3001\u5fc3\u81d3\u306e\u75c5\u6c17\u3092\u6301\u3063\u3066\u3044\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u8d64\u3061\u3083\u3093\u306e\u9803\u306f\u3001\u547c\u5438\u3084\u30df\u30eb\u30af\u3092\u98f2\u3080\u306e\u304c\u82e6\u624b\u3067\u3001NICU\uff08\u65b0\u751f\u5150\u96c6\u4e2d\u6cbb\u7642\u5ba4\uff09\u3067\u306e\u7ba1\u7406\u3084\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u306f\u3068\u3066\u3082\u5fc3\u914d\u306a\u6642\u671f\u304c\u7d9a\u304f\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u533b\u7642\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u547c\u5438\u3084\u5fc3\u81d3\u306e\u554f\u984c\u306f\u624b\u8853\u306a\u3069\u3067\u4e57\u308a\u8d8a\u3048\u3089\u308c\u308b\u3053\u3068\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002\u3042\u3054\u3082\u6210\u9577\u3068\u3068\u3082\u306b\u5927\u304d\u304f\u306a\u308a\u3001\u547c\u5438\u306e\u554f\u984c\u306f\u6539\u5584\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u306b\u95a2\u3057\u3066\u306f\u3001\u3086\u3063\u304f\u308a\u3068\u3057\u305f\u30da\u30fc\u30b9\u3067\u9032\u3093\u3067\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8449\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u53e3\u84cb\u88c2\u306e\u6cbb\u7642\u3068\u8a00\u8a9e\u7642\u6cd5\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u306f\u4f38\u3073\u3066\u3044\u304d\u307e\u3059\u3002\u624b\u8db3\u306e\u7279\u5fb4\uff08\u5c0f\u6307\u306e\u5f62\u306a\u3069\uff09\u3082\u3001\u305d\u306e\u5b50\u306e\u500b\u6027\u306e\u4e00\u90e8\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u6b20\u3051\u3066\u3044\u308b\u5834\u6240\u306b\u3088\u3063\u3066\u75c7\u72b6\u304c\u4e00\u4eba\u3072\u3068\u308a\u9055\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c4q\u6b20\u5931\u300d\u3068\u3044\u3046\u540d\u524d\u3060\u3051\u3067\u6016\u304c\u3089\u305a\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u7d50\u679c\u3092\u3082\u3068\u306b\u3001\u305d\u306e\u5b50\u81ea\u8eab\u306e\u300c\u5f97\u610f\u306a\u3053\u3068\u300d\u3068\u300c\u82e6\u624b\u306a\u3053\u3068\uff08\u30b1\u30a2\u304c\u5fc5\u8981\u306a\u3053\u3068\uff09\u300d\u3092\u6b63\u3057\u304f\u77e5\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u5150\u79d1\u533b\u3001\u5f62\u6210\u5916\u79d1\u533b\u3001\u5faa\u74b0\u5668\u533b\u3001\u305d\u3057\u3066\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u9811\u5f35\u308a\u3068\u6210\u9577\u3092\u3001\u9577\u304f\u3001\u6e29\u304b\u304f\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>Strehle, E.M., et al.<\/strong> (2001). <em>Phenotype-genotype correlation in patients with 4q deletion syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b4q\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u60a3\u800520\u4f8b\u4ee5\u4e0a\u3092\u89e3\u6790\u3057\u3001\u6b20\u5931\u90e8\u4f4d\u3068\u81e8\u5e8a\u75c7\u72b6\uff08\u5fc3\u75be\u60a3\u3001\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\u306a\u3069\uff09\u306e\u76f8\u95a2\u3092\u8a73\u7d30\u306b\u691c\u8a0e\u3057\u305f\u3001\u672c\u75be\u60a3\u306e\u7406\u89e3\u306b\u304a\u3051\u308b\u57fa\u790e\u7684\u306a\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Russell, B., et al.<\/strong> (2012). <em>Genome-wide analysis of 4q deletion syndrome: delineation of the phenotype and identification of a critical region.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u6280\u8853\u3092\u7528\u3044\u3066\u6b20\u5931\u7bc4\u56f2\u3092\u7cbe\u67fb\u3057\u30014q33\u9818\u57df\u304c\u5fc3\u8840\u7ba1\u304a\u3088\u3073\u56db\u80a2\u306e\u7570\u5e38\u306b\u95a2\u3059\u308b\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\u3067\u3042\u308b\u3053\u3068\u3092\u7279\u5b9a\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Huang, X., et al.<\/strong> (2002). <em>HAND2 is a critical gene for the 4q- syndrome heart and limb defects.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b4q\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u306a\u75c7\u72b6\u3067\u3042\u308b\u5fc3\u75be\u60a3\u3068\u56db\u80a2\u7570\u5e38\u306e\u539f\u56e0\u3068\u3057\u3066\u3001HAND2\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u76f4\u63a5\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u5206\u5b50\u30ec\u30d9\u30eb\u3067\u8a3c\u660e\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Keeling, S.L., et al.<\/strong> (2001). <em>Proximal 4q deletion syndrome: case report and review of the literature.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u6bd4\u8f03\u7684\u7a00\u306a\u300c\u8fd1\u4f4d\u6b20\u5931\uff084q12-q21\u306a\u3069\uff09\u300d\u306e\u81e8\u5e8a\u50cf\u3092\u307e\u3068\u3081\u3001\u9060\u4f4d\u6b20\u5931\u3068\u306e\u9055\u3044\u3092\u660e\u78ba\u306b\u3057\u305f\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>4q deletions (from 4q31)<\/em> (2020).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\u306e\u30b1\u30a2\u3001\u767a\u9054\u306e\u76ee\u5b89\u3001\u6442\u98df\u969c\u5bb3\u3078\u306e\u5bfe\u5fdc\u306a\u3069\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u5305\u62ec\u7684\u306a\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Pierre Robin Sequence<\/em>. (For management strategies).\n<ul class=\"wp-block-list\">\n<li>(\u203b4q\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u75c7\u72b6\u3067\u3042\u308b\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\u306e\u7ba1\u7406\u3001\u624b\u8853\u9069\u5fdc\u3001\u4e88\u5f8c\u306b\u3064\u3044\u3066\u306e\u53c2\u7167\u5143\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-17072","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\/17072","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\/17072\/revisions"}],"predecessor-version":[{"id":17075,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17072\/revisions\/17075"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17072"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}