{"id":17213,"date":"2026-01-21T08:42:36","date_gmt":"2026-01-21T08:42:36","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17213"},"modified":"2026-01-21T08:42:36","modified_gmt":"2026-01-21T08:42:36","slug":"9q31-1-q31-3-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/9q31-1-q31-3-microdeletion-syndrome\/","title":{"rendered":"9q31.1-q31.3 microdeletion 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>9q31.1-q31.3\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>9q31.1-q31.3\u6b20\u5931\u75c7\u5019\u7fa4\uff089q31.1-q31.3 deletion syndrome\uff09<\/li>\n\n\n\n<li>9q31\u6b20\u5931\u75c7\u5019\u7fa4\uff089q31 deletion syndrome\uff09<\/li>\n\n\n\n<li>9q31\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 9q31\uff09<\/li>\n\n\n\n<li>9q\u4e2d\u9593\u90e8\u6b20\u5931\u75c7\u5019\u7fa4\uff08Interstitial deletion of 9q\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b9\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306b\u306f\u3001\u4ed6\u306b\u3082\u6709\u540d\u306a\u300c9q22.3\u6b20\u5931\uff08\u30b4\u30fc\u30ea\u30f3\u75c7\u5019\u7fa4\uff09\u300d\u3084\u300c9q34\u6b20\u5931\uff08\u30af\u30ea\u30fc\u30d5\u30b9\u30c8\u30e9\u75c7\u5019\u7fa4\uff09\u300d\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u672c\u75be\u60a3\u306f\u305d\u306e\u300c\u9593\u300d\u306b\u4f4d\u7f6e\u3059\u308b\u72ec\u7acb\u3057\u305f\u75be\u60a3\u5358\u4f4d\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>9\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0931.1\u304b\u308931.3\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e9\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u4e2d\u9593\u4ed8\u8fd1\u306b\u3042\u308b\u300c31.1\u300d\u304b\u3089\u300c31.3\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\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306e\u6b20\u5931\u306f\u3001\u67d3\u8272\u4f53\u306e\u672b\u7aef\uff08\u30c6\u30ed\u30e1\u30a2\uff09\u3092\u542b\u307e\u306a\u3044\u300c\u4e2d\u9593\u6b20\u5931\uff08Interstitial deletion\uff09\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6b20\u5931\u306e\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u304b\u308910Mb\u4ee5\u4e0a\u306b\u53ca\u3076\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u306e\u7814\u7a76\u306b\u3088\u308a\u3001\u3053\u306e\u9818\u57df\u306b\u306f\u4f53\u306e\u6210\u9577\u3084\u67d3\u8272\u4f53\u306e\u69cb\u9020\u7dad\u6301\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u5224\u660e\u3057\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u304c\u3001\u672c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\uff08\u7279\u306b\u6210\u9577\u969c\u5bb3\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u300c\u8cac\u4efb\u907a\u4f1d\u5b50\u300d\u3068\u3057\u3066\u6ce8\u76ee\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\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>SMC2 (Structural Maintenance of Chromosomes 2):<\/strong> 9q31.1\u306b\u4f4d\u7f6e\u3002\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u91cd\u8981\u306e\u8cac\u4efb\u907a\u4f1d\u5b50<\/strong>\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f79\u5272:<\/strong> \u300c\u30b3\u30f3\u30c7\u30f3\u30b7\u30f3\uff08Condensin\uff09\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u8907\u5408\u4f53\u306e\u4e00\u90e8\u3092\u4f5c\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u7d30\u80de\u5206\u88c2\u306e\u969b\u306b\u3001\u67d3\u8272\u4f53\u3092\u30ae\u30e5\u30c3\u3068\u51dd\u7e2e\u3055\u305b\u3066\u6b63\u3057\u304f\u5206\u914d\u3059\u308b\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong> \u3053\u306e\u907a\u4f1d\u5b50\u304c\u534a\u5206\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u306a\u308b\u3068\u3001\u7d30\u80de\u5206\u88c2\u3084\u5897\u6b96\u304c\u30b9\u30e0\u30fc\u30ba\u306b\u3044\u304b\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u304c\u3001\u672c\u75c7\u5019\u7fa4\u3067\u898b\u3089\u308c\u308b**\u300c\u91cd\u5ea6\u306e\u51fa\u751f\u5f8c\u6210\u9577\u969c\u5bb3\uff08\u8eab\u9577\u304c\u4f38\u3073\u306a\u3044\uff09\u300d<strong>\u3084<\/strong>\u300c\u5c0f\u982d\u75c7\u300d**\u306e\u4e3b\u8981\u306a\u539f\u56e0\u3067\u3042\u308b\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ABCA1 (ATP Binding Cassette Subfamily A Member 1):<\/strong> 9q31.1\u306b\u4f4d\u7f6e\u3002\n<ul class=\"wp-block-list\">\n<li><strong>\u5f79\u5272:<\/strong> \u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u3084\u8102\u8cea\u306e\u4ee3\u8b1d\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\u306e\u5f71\u97ff:<\/strong> \u4e21\u65b9\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u640d\u3059\u308b\u3068\u300c\u30bf\u30f3\u30b8\u30fc\u30eb\u75c5\uff08Tangier disease\uff09\u300d\u306b\u306a\u308a\u307e\u3059\u304c\u3001\u7247\u65b9\u306e\u6b20\u5931\uff08\u672c\u75be\u60a3\uff09\u3067\u306f\u3001\u5584\u7389\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\uff08HDL\uff09\u304c\u4f4e\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u901a\u5e38\u91cd\u7be4\u306a\u75c7\u72b6\u306f\u51fa\u306b\u304f\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>TLE1 \/ TLE4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u795e\u7d4c\u767a\u751f\u3084\u8133\u306e\u767a\u9054\u306b\u95a2\u4e0e\u3057\u3066\u304a\u308a\u3001\u77e5\u7684\u969c\u5bb3\u306b\u95a2\u9023\u3059\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>\u6975\u3081\u3066\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>9\u756a\u67d3\u8272\u4f53\u306e\u6b20\u5931\u81ea\u4f53\u304c\u6bd4\u8f03\u7684\u7a00\u3067\u3059\u304c\u3001\u305d\u306e\u4e2d\u3067\u3082\u300c9q31\u9818\u57df\u300d\u306b\u9650\u5c40\u3057\u305f\u6b20\u5931\u306e\u5831\u544a\u6570\u306f\u975e\u5e38\u306b\u5c11\u306a\u304f\u3001\u4e16\u754c\u7684\u306a\u533b\u5b66\u6587\u732e\u306b\u304a\u3051\u308b\u8a73\u7d30\u306a\u75c7\u4f8b\u5831\u544a\u6570\u306f\u6570\u5341\u4f8b\u7a0b\u5ea6\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u75be\u60a3\u304c\u5b58\u5728\u3057\u306a\u3044\u306e\u3067\u306f\u306a\u304f\u3001\u4ee5\u4e0b\u306e\u7406\u7531\u306b\u3088\u308b**\u300c\u904e\u5c11\u8a3a\u65ad\uff08Underdiagnosis\uff09\u300d**\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u7279\u5fb4\u306e\u91cd\u8907:<\/strong> \u300c\u4f4e\u8eab\u9577\u300d\u3084\u300c\u77e5\u7684\u969c\u5bb3\u300d\u306f\u4ed6\u306e\u591a\u304f\u306e\u75c7\u5019\u7fa4\u3067\u3082\u898b\u3089\u308c\u308b\u305f\u3081\u3001\u7279\u5fb4\u7684\u306a\u5916\u898b\uff08\u4e09\u89d2\u982d\u84cb\u306a\u3069\uff09\u304c\u306a\u3044\u9650\u308a\u3001\u67d3\u8272\u4f53\u691c\u67fb\u306b\u81f3\u3089\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u691c\u67fb\u6280\u8853:<\/strong> \u4e00\u822c\u7684\u306aG\u30d0\u30f3\u30c9\u67d3\u8272\u4f53\u691c\u67fb\u3067\u306f\u898b\u9003\u3055\u308c\u308b\u5fae\u7d30\u306a\u6b20\u5931\u3067\u3042\u308a\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u3092\u884c\u308f\u306a\u3044\u3068\u8a3a\u65ad\u3067\u304d\u307e\u305b\u3093\u3002<\/li>\n<\/ol>\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>9q31.1-q31.3 microdeletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u8457\u3057\u3044\u6210\u9577\u969c\u5bb3\uff08\u4f4e\u8eab\u9577\uff09\u300d\u300c\u5c0f\u982d\u75c7\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d**\u304c4\u5927\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u751f\u307e\u308c\u305f\u5f8c\u306e\u8eab\u9577\u306e\u4f38\u3073\u304c\u60aa\u304f\u3001\u4f53\u91cd\u304c\u5897\u3048\u306b\u304f\u3044\u3053\u3068\u304c\u65e9\u671f\u306e\u6c17\u3065\u304d\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6210\u9577\u969c\u5bb3\u30fb\u4f53\u683c\uff08Growth failure\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u6700\u3082\u533b\u5b66\u7684\u7ba1\u7406\u3092\u8981\u3059\u308b\u3001\u9855\u8457\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u51fa\u751f\u5f8c\u6210\u9577\u969c\u5bb3\uff08Postnatal growth retardation\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u6642\u306e\u8eab\u9577\u30fb\u4f53\u91cd\u306f\u6b63\u5e38\u7bc4\u56f2\u5185\u304b\u3084\u3084\u5c0f\u3055\u3081\u7a0b\u5ea6\u3067\u3059\u304c\u3001\u751f\u5f8c\u6570\u30f6\u6708\u304b\u3089\u6210\u9577\u7387\u304c\u6025\u6fc0\u306b\u4f4e\u4e0b\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u3067\u3001\u8eab\u9577\u30fb\u4f53\u91cd\u3068\u3082\u306b\u6210\u9577\u66f2\u7dda\u306e\u7bc4\u56f2\u3092\u5927\u304d\u304f\u4e0b\u56de\u308b\uff08-2SD\u301c-3SD\u4ee5\u4e0b\uff09<strong>\u91cd\u5ea6\u306e\u4f4e\u8eab\u9577<\/strong>\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u306e\u5206\u6ccc\u306f\u6b63\u5e38\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u30db\u30eb\u30e2\u30f3\u6cbb\u7642\u3078\u306e\u53cd\u5fdc\u304c\u9650\u5b9a\u7684\u3067\u3042\u308b\uff08SMC2\u907a\u4f1d\u5b50\u306e\u7d30\u80de\u30ec\u30d9\u30eb\u306e\u554f\u984c\u3067\u3042\u308b\uff09\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u982d\u56f2\u304c\u5c0f\u3055\u304f\u3001\u5e74\u9f62\u3068\u3068\u3082\u306b\u305d\u306e\u50be\u5411\u304c\u5f37\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u75e9\u8eab\uff08Slender habitus\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u76ae\u4e0b\u8102\u80aa\u304c\u5c11\u306a\u304f\u3001\u5168\u4f53\u7684\u306b\u7d30\u8eab\u306e\u4f53\u578b\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\u3067\u3001\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09 \/ \u767a\u9054\u9045\u6ede\uff08DD\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u5834\u5408\u3001<strong>\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6<\/strong>\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u7372\u5f97\u304c\u975e\u5e38\u306b\u9045\u304f\u3001\u767a\u8a9e\u304c\u306a\u3044\uff08Non-verbal\uff09\u5834\u5408\u3084\u3001\u6570\u8a9e\u306b\u3068\u3069\u307e\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7406\u89e3\u529b\uff08\u53d7\u5bb9\u8a00\u8a9e\uff09\u306f\u3001\u8a71\u3059\u80fd\u529b\uff08\u8868\u51fa\u8a00\u8a9e\uff09\u3088\u308a\u3082\u826f\u597d\u306a\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\u9045\u6ede:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u958b\u59cb\u306a\u3069\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09\uff1a<\/strong> \u4e73\u5e7c\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306e\u4e00\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e00\u90e8\u306e\u60a3\u8005\u3055\u3093\u3067\u3051\u3044\u308c\u3093\u767a\u4f5c\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u6210\u9577\u3068\u3068\u3082\u306b\u7279\u5fb4\u304c\u306f\u3063\u304d\u308a\u3057\u3066\u304f\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9854\u306e\u8f2a\u90ed:<\/strong> \u9762\u9577\uff08Long face\uff09\u3001\u307e\u305f\u306f\u9006\u4e09\u89d2\u5f62\u306e\u9854\u7acb\u3061\u3002<\/li>\n\n\n\n<li><strong>\u76ee:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30a2\u30fc\u30c1\u72b6\u306e\u7709\u6bdb\uff08Arched eyebrows\uff09\u3002<\/li>\n\n\n\n<li>\u9577\u3044\u776b\u6bdb\u3002<\/li>\n\n\n\n<li>\u773c\u77bc\u88c2\u659c\u4e0b\uff08\u30bf\u30ec\u76ee\uff09\u3001\u307e\u305f\u306f\u6c34\u5e73\u3002<\/li>\n\n\n\n<li>\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9f3b:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u9577\u3044\u9f3b\uff08Long nose\uff09<\/strong>\u3001\u9f3b\u6839\u90e8\u304c\u9ad8\u3044\u3002<\/li>\n\n\n\n<li>\u9f3b\u67f1\u304c\u5782\u308c\u4e0b\u304c\u3063\u3066\u3044\u308b\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u53e3:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u8584\u3044\u4e0a\u5507\uff08Thin upper lip\uff09<\/strong>\u3002<\/li>\n\n\n\n<li>\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\uff09\u304c\u77ed\u3044\u3002<\/li>\n\n\n\n<li>\u53e3\u89d2\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li>\u5c0f\u984e\u75c7\uff08\u3042\u3054\u304c\u5c0f\u3055\u3044\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u9aa8\u683c\u30fb\u7b4b\u9aa8\u683c\u7cfb\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6307\u306e\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9577\u3044\u6307\uff08Arachnodactyly\uff09\u3001\u307e\u305f\u306f\u77ed\u3044\u6307\u3002<\/li>\n\n\n\n<li>\u7b2c5\u6307\uff08\u5c0f\u6307\uff09\u306e\u6e7e\u66f2\uff08Clinodactyly\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u810a\u67f1\u5074\u5f2f\u75c7\uff08Scoliosis\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u4f34\u3044\u3001\u5b66\u7ae5\u671f\u4ee5\u964d\u306b\u80cc\u9aa8\u304c\u66f2\u304c\u3063\u3066\u304f\u308b\u3053\u3068\u304c\u3042\u308a\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>\u95a2\u7bc0\u306e\u7de9\u3055\uff08\u904e\u4f38\u5c55\uff09\u3084\u3001\u9006\u306b\u95a2\u7bc0\u62d8\u7e2e\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>\u6442\u98df\u969c\u5bb3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5e7c\u5150\u671f\u306e\u54fa\u4e73\u56f0\u96e3\u3001\u56a5\u4e0b\u969c\u5bb3\u3001\u80c3\u98df\u9053\u9006\u6d41\u75c7\uff08GERD\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u7d4c\u7ba1\u6804\u990a\u304c\u5fc5\u8981\u306b\u306a\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09\u3084\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u306a\u3069\u306e\u8efd\u5fae\u306a\u5148\u5929\u6027\u5fc3\u75be\u60a3\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u91cd\u7be4\u306a\u3082\u306e\u306f\u7a00\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u773c\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u659c\u8996\u3001\u5c48\u6298\u7570\u5e38\uff08\u8fd1\u8996\u30fb\u9060\u8996\uff09\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>9\u756a\u67d3\u8272\u4f53\u9577\u8155\uff089q31.1-q31.3\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\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>9q31.1-q31.3\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\uff08\u67d3\u8272\u4f53\u5207\u65ad\uff09\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306e\u5e74\u9f62\u3084\u598a\u5a20\u4e2d\u306e\u74b0\u5883\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\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\u7a00\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u975e\u5e38\u306b\u7a00\u3067\u3059\u304c\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\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\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u30cf\u30d7\u30ed\u4e0d\u5168\uff08Haploinsufficiency\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u672c\u8cea\u7684\u306a\u539f\u56e0\u306f\u3001<em>SMC2<\/em>\u306a\u3069\u306e\u907a\u4f1d\u5b50\u304c\u7247\u65b9\u6b20\u3051\u308b\u3053\u3068\u3067\u3001\u7d30\u80de\u5206\u88c2\u3084\u6210\u9577\u306b\u5fc5\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u534a\u5206\u306b\u306a\u3063\u3066\u3057\u307e\u3046\u3053\u3068\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b<em>SMC2<\/em>\uff08\u30b3\u30f3\u30c7\u30f3\u30b7\u30f3\uff09\u306e\u4e0d\u8db3\u306f\u3001\u5168\u8eab\u306e\u7d30\u80de\u5897\u6b96\u52b9\u7387\u3092\u4f4e\u4e0b\u3055\u305b\u308b\u305f\u3081\u3001\u5168\u4f53\u7684\u306a\u4f53\u306e\u5c0f\u3055\u3055\uff08\u4f4e\u8eab\u9577\uff09\u3084\u8133\u306e\u5c0f\u3055\u3055\uff08\u5c0f\u982d\u75c7\uff09\u306b\u3064\u306a\u304c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\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\u8457\u3057\u3044\u4f4e\u8eab\u9577\u300d\u300c\u5c0f\u982d\u75c7\u300d\u300c\u767a\u9054\u9045\u6ede\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u306e\u7d44\u307f\u5408\u308f\u305b\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u304c\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b**\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff08\u7b2c\u4e00\u9078\u629e\uff09**\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>9q31.1-q31.3\u9818\u57df\u306e\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\uff08bp\u5358\u4f4d\uff09\u3068\u3001<em>SMC2<\/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>\u5f93\u6765\u306eG\u30d0\u30f3\u30c9\u691c\u67fb\uff08\u9855\u5fae\u93e1\u691c\u67fb\uff09\u3067\u306f\u3001\u6b20\u5931\u304c5Mb\u4ee5\u4e0b\u306a\u3069\u5c0f\u3055\u3044\u5834\u5408\u306b\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001CMA\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u78ba\u5b9a\u5f8c\u3001\u5bb6\u65cf\u6027\uff08\u89aa\u306e\u8ee2\u5ea7\u306a\u3069\uff09\u304b\u3069\u3046\u304b\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u4e21\u89aa\u306e\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\u306e\u6b63\u78ba\u306a\u8a55\u4fa1\u306b\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u691c\u67fb\u30fb\u5185\u5206\u6ccc\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u8eab\u9577\u306e\u539f\u56e0\u7cbe\u67fb\u3068\u3057\u3066\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u523a\u6fc0\u8a66\u9a13\u3084\u9aa8\u5e74\u9f62\u306e\u6e2c\u5b9a\uff08\u624b\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\uff09\u3001\u982d\u90e8MRI\u306a\u3069\u304c\u884c\u308f\u308c\u307e\u3059\u304c\u3001\u672c\u75c7\u5019\u7fa4\u3067\u306f\u30db\u30eb\u30e2\u30f3\u7570\u5e38\u304c\u898b\u3064\u304b\u3089\u306a\u3044\u3053\u3068\u304c\u8a3a\u65ad\u306e\u30d2\u30f3\u30c8\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\uff08\u30db\u30eb\u30e2\u30f3\u306f\u51fa\u3066\u3044\u308b\u306e\u306b\u80cc\u304c\u4f38\u3073\u306a\u3044\uff09\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\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u767a\u9054\u3092\u6700\u5927\u9650\u306b\u4fc3\u3059**\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09**\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6210\u9577\u30fb\u6804\u990a\u7ba1\u7406\uff08\u91cd\u8981\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6804\u990a\u30b5\u30dd\u30fc\u30c8:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5e7c\u5150\u671f\u306e\u54fa\u4e73\u56f0\u96e3\u3084\u4f53\u91cd\u5897\u52a0\u4e0d\u826f\u306b\u5bfe\u3057\u3001\u9ad8\u30ab\u30ed\u30ea\u30fc\u30df\u30eb\u30af\u306e\u4f7f\u7528\u3084\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u7d4c\u7ba1\u6804\u990a\uff08\u9f3b\u304b\u3089\u30c1\u30e5\u30fc\u30d6\uff09\u3084\u80c3\u763b\uff08\u304a\u8179\u304b\u3089\u76f4\u63a5\u6804\u990a\u3092\u5165\u308c\u308b\uff09\u3092\u691c\u8a0e\u3057\u3001\u9069\u5207\u306a\u6804\u990a\u72b6\u614b\u3092\u7dad\u6301\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6210\u9577\u306e\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5b9a\u671f\u7684\u306b\u8eab\u9577\u30fb\u4f53\u91cd\u30fb\u982d\u56f2\u3092\u6e2c\u5b9a\u3057\u3001\u72ec\u81ea\u306e\u6210\u9577\u66f2\u7dda\u3092\u63cf\u304f\u3053\u3068\u3092\u7406\u89e3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5\u306b\u3064\u3044\u3066\u306f\u3001\u5206\u6ccc\u4e0d\u5168\u304c\u306a\u3044\u5834\u5408\u306e\u52b9\u679c\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001SGA\u6027\u4f4e\u8eab\u9577\uff08\u304a\u8179\u306e\u4e2d\u3067\u5c0f\u3055\u304f\u751f\u307e\u308c\u305f\u3053\u3068\u306b\u3088\u308b\u4f4e\u8eab\u9577\uff09\u306e\u57fa\u6e96\u3092\u6e80\u305f\u3059\u5834\u5408\u306a\u3069\u306b\u3001\u8a66\u9a13\u7684\u306b\u5c0e\u5165\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u52b9\u679c\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u5f8c\u3001\u65e9\u671f\u304b\u3089\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>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u304c\u9855\u8457\u306a\u5834\u5408\u3001\u30b5\u30a4\u30f3\u3001\u7d75\u30ab\u30fc\u30c9\uff08PECS\uff09\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u306a\u3069\u306e**AAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09**\u3092\u7a4d\u6975\u7684\u306b\u5c0e\u5165\u3057\u3001\u610f\u601d\u4f1d\u9054\u306e\u624b\u6bb5\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7406\u89e3\u529b\u306f\u6bd4\u8f03\u7684\u826f\u3044\u305f\u3081\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u304c\u3042\u308b\u3053\u3068\u3067\u3001\u304b\u3093\u3057\u3083\u304f\u306a\u3069\u306e\u884c\u52d5\u554f\u984c\u3092\u6e1b\u3089\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u5bfe\u3057\u3001\u4f53\u5e79\u3092\u935b\u3048\u3001\u6b69\u884c\u306e\u5b89\u5b9a\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u6574\u5f62\u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5074\u5f2f\u75c7\u306e\u7ba1\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5b66\u7ae5\u671f\u4ee5\u964d\u3001\u810a\u67f1\u5074\u5f2f\u75c7\u304c\u9032\u884c\u3057\u306a\u3044\u304b\u5b9a\u671f\u7684\u306b\u30c1\u30a7\u30c3\u30af\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u88c5\u5177\u7642\u6cd5\u306a\u3069\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5408\u4f75\u75c7\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong> \u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u30fb\u8033\u9f3b\u79d1:<\/strong> \u5b9a\u671f\u7684\u306a\u8996\u529b\u30fb\u8074\u529b\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u60c5\u5831\u306e\u6574\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u30cd\u30c3\u30c8\u4e0a\u306b\u3082\u65e5\u672c\u8a9e\u306e\u60c5\u5831\u306f\u307b\u3068\u3093\u3069\u3042\u308a\u307e\u305b\u3093\u3002\u300c9q31\u6b20\u5931\u300d\u3068\u3044\u3046\u8a3a\u65ad\u540d\u3060\u3051\u3067\u306a\u304f\u3001\u305d\u308c\u304c\u5177\u4f53\u7684\u306b\u3069\u306e\u3088\u3046\u306a\u907a\u4f1d\u5b50\u306e\u4e0d\u8db3\u306b\u3088\u308b\u3082\u306e\u304b\uff08SMC2\u306a\u3069\uff09\u3092\u8aac\u660e\u3057\u3001\u7406\u89e3\u3092\u52a9\u3051\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u3078\u306e\u652f\u63f4:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u300c\u80cc\u304c\u4f38\u3073\u306a\u3044\u306e\u306f\u80b2\u3066\u65b9\u306e\u305b\u3044\u3067\u306f\u306a\u3044\u300d\u3053\u3068\u3092\u660e\u78ba\u306b\u4f1d\u3048\u3001\u907a\u4f1d\u7684\u306a\u8981\u56e0\u3067\u3042\u308b\u3053\u3068\u3092\u5171\u6709\u3057\u307e\u3059\u3002\u5c06\u6765\u306e\u898b\u901a\u3057\uff08\u5c31\u5b66\u3084\u751f\u6d3b\u81ea\u7acb\u306a\u3069\uff09\u306b\u3064\u3044\u3066\u3001\u9577\u671f\u7684\u306a\u8996\u70b9\u3067\u76f8\u8ac7\u306b\u4e57\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>9q31.1-q31.3 microdeletion syndrome\u306f\u30019\u756a\u67d3\u8272\u4f53\u306e\u4e2d\u9593\u90e8\u5206\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001\u304a\u5b50\u3055\u3093\u306e\u4f53\u304c\u3068\u3066\u3082\u5c0f\u67c4\u3067\u3001\u3086\u3063\u304f\u308a\u3068\u6210\u9577\u3057\u3066\u3044\u304f\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u751f\u307e\u308c\u305f\u6642\u306f\u6a19\u6e96\u7684\u306a\u5927\u304d\u3055\u3067\u3082\u3001\u305d\u306e\u5f8c\u8eab\u9577\u3084\u4f53\u91cd\u306e\u5897\u3048\u304c\u7de9\u3084\u304b\u306b\u306a\u308b\u305f\u3081\u3001\u3054\u5bb6\u65cf\u306f\u300c\u30df\u30eb\u30af\u304c\u8db3\u308a\u306a\u3044\u306e\u304b\u306a\uff1f\u300d\u300c\u80b2\u3066\u65b9\u304c\u60aa\u3044\u306e\u304b\u306a\uff1f\u300d\u3068\u6df1\u304f\u60a9\u307e\u308c\u3066\u304d\u305f\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u6804\u990a\u4e0d\u8db3\u3084\u611b\u60c5\u4e0d\u8db3\u306e\u305b\u3044\u3067\u306f\u306a\u304f\u3001\u4f53\u306e\u7d30\u80de\u3092\u5897\u3084\u3057\u3066\u5927\u304d\u304f\u3059\u308b\u305f\u3081\u306e\u907a\u4f1d\u5b50\uff08SMC2\u306a\u3069\uff09\u304c\u751f\u307e\u308c\u3064\u304d1\u3064\u5c11\u306a\u3044\u305f\u3081\u306b\u8d77\u3053\u308b\u3001\u4f53\u8cea\u7684\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u77e5\u7684\u306a\u767a\u9054\u306b\u3064\u3044\u3066\u3082\u3001\u8a00\u8449\u304c\u51fa\u308b\u307e\u3067\u306b\u6642\u9593\u304c\u304b\u304b\u308b\u306a\u3069\u3001\u3086\u3063\u304f\u308a\u3068\u3057\u305f\u30da\u30fc\u30b9\u3067\u3059\u304c\u3001\u7642\u80b2\u3092\u901a\u3058\u3066\u7740\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8449\u3067\u8a71\u3059\u306e\u304c\u82e6\u624b\u3067\u3082\u3001\u3053\u3061\u3089\u306e\u8a00\u3063\u3066\u3044\u308b\u3053\u3068\u306f\u3088\u304f\u5206\u304b\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u3092\u4f7f\u3048\u3070\u3001\u8c4a\u304b\u306a\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u53d6\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u3082\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u305d\u306e\u5b50\u3089\u3057\u3044\u611b\u5b0c\u306e\u3042\u308b\u8868\u60c5\u3078\u3068\u5909\u308f\u3063\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u7be4\u306a\u5fc3\u81d3\u75c5\u306a\u3069\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u306f\u6bd4\u8f03\u7684\u5c11\u306a\u304f\u3001\u751f\u547d\u4e88\u5f8c\u306f\u5b89\u5b9a\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4f4e\u8eab\u9577\u3084\u5074\u5f2f\u75c7\u306a\u3069\u3001\u9577\u671f\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u304c\u5fc5\u8981\u306a\u9762\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u5c0f\u5150\u79d1\u533b\u3001\u5185\u5206\u6ccc\u79d1\u533b\u3001\u6574\u5f62\u5916\u79d1\u533b\u3001\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3001\u305d\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u500b\u6027\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>Bramswig, N.C., et al.<\/strong> (2013). <em>Identification of new 9q31.1-q31.3 microdeletions: genotype-phenotype characterization and delineation of a critical region for a recognizable syndrome.<\/em> European Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b9q31.1-q31.3\u9818\u57df\u306e\u6b20\u5931\u3092\u6301\u3064\u65b0\u305f\u306a\u60a3\u8005\u7fa4\u3092\u5831\u544a\u3057\u3001\u91cd\u5ea6\u306e\u51fa\u751f\u5f8c\u6210\u9577\u969c\u5bb3\u3001\u5c0f\u982d\u75c7\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3092\u5448\u3059\u308b\u8b58\u5225\u53ef\u80fd\u306a\u75c7\u5019\u7fa4\u3067\u3042\u308b\u3053\u3068\u3092\u5b9a\u7fa9\u3057\u305f\u3001\u672c\u75be\u60a3\u306b\u304a\u3051\u308b\u6700\u3082\u91cd\u8981\u306a\u539f\u8457\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Vlckova, M., et al.<\/strong> (2016). <em>SMC2 encoding a core subunit of condensin I and II is a candidate gene for microcephaly and growth retardation in 9q31.1-q31.3 deletion.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b9q31.1-q31.3\u6b20\u5931\u60a3\u8005\u306e\u89e3\u6790\u304b\u3089\u3001SMC2\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u5c0f\u982d\u75c7\u304a\u3088\u3073\u6210\u9577\u969c\u5bb3\u306e\u4e3b\u8981\u306a\u539f\u56e0\uff08\u8cac\u4efb\u907a\u4f1d\u5b50\uff09\u3067\u3042\u308b\u3053\u3068\u3092\u5f37\u304f\u793a\u5506\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Komoike, Y., et al.<\/strong> (2010). <em>A novel 9q31.1-q31.3 deletion in a patient with distinct clinical features.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u672c\u75c7\u5019\u7fa4\u306e\u75c7\u4f8b\u5831\u544a\u3002\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08\u9577\u3044\u9f3b\u3001\u8584\u3044\u4e0a\u5507\u306a\u3069\uff09\u3084\u767a\u9054\u9045\u6ede\u306e\u8a73\u7d30\u306a\u81e8\u5e8a\u50cf\u3092\u8a18\u8ff0\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>9q deletions<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u30019q\u4e2d\u9593\u90e8\u6b20\u5931\u306e\u7279\u5fb4\u3001\u6210\u9577\uff08\u4f4e\u8eab\u9577\uff09\u3078\u306e\u5bfe\u5fdc\u3001\u6442\u98df\u969c\u5bb3\u3001\u7642\u80b2\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u306a\u3069\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Decipher Database<\/strong>: <em>9q31.1 deletion<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u67d3\u8272\u4f53\u5fae\u7d30\u6b20\u5931\u30fb\u91cd\u8907\u306b\u95a2\u3059\u308b\u56fd\u969b\u7684\u306a\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u30029q31\u9818\u57df\u306e\u6b20\u5931\u3092\u6301\u3064\u60a3\u8005\u306e\u81e8\u5e8a\u75c7\u72b6\uff08ID, \u5c0f\u982d\u75c7, \u4f4e\u8eab\u9577\u306a\u3069\uff09\u306e\u7d71\u8a08\u30c7\u30fc\u30bf\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-17213","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\/17213","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\/17213\/revisions"}],"predecessor-version":[{"id":17215,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17213\/revisions\/17215"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17213"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}