{"id":17018,"date":"2026-01-21T05:04:27","date_gmt":"2026-01-21T05:04:27","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17018"},"modified":"2026-07-18T10:07:14","modified_gmt":"2026-07-18T10:07:14","slug":"2q32-q33-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/2q32-q33-microdeletion-syndrome\/","title":{"rendered":"2q32q33\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\uff5c\u5c0f\u984e\u75c7\u306a\u3069\u75c7\u72b6\u30fb\u539f\u56e0\u3092\u89e3\u8aac"},"content":{"rendered":"\n<div class=\"wp-block-group\" style=\"border-radius:8px;background-color:#eef6f3;padding:1.2rem 1.5rem 1.2rem 1.5rem\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n\n<p><strong>\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>2q32q33\u6b20\u5931\u75c7\u5019\u7fa4\uff08SATB2\u95a2\u9023\u75c7\u5019\u7fa4\uff09\u304c\u3069\u3093\u306a\u75c5\u6c17\u304b\u3001\u57fa\u790e\u304b\u3089\u308f\u304b\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u5c0f\u984e\u75c7\u30fb\u53e3\u84cb\u88c2\u30fb\u5de8\u5927\u6b6f\u306a\u3069\u3001\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u306e\u5168\u4f53\u50cf\u3092\u3064\u304b\u3081\u307e\u3059<\/li>\n\n\n\n<li>\u300c\u8a00\u8449\u306e\u9045\u308c\u300d\u3068\u300c\u7406\u89e3\u306f\u9032\u3093\u3067\u3044\u308b\u300d\u3068\u3044\u3046\u7279\u6027\u306e\u610f\u5473\u304c\u308f\u304b\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u539f\u56e0\uff082\u756a\u67d3\u8272\u4f53\u306e\u5fae\u7d30\u6b20\u5931\uff09\u3068\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u3092\u6574\u7406\u3067\u304d\u307e\u3059<\/li>\n\n\n\n<li>\u8a3a\u65ad\u306b\u4f7f\u3046\u691c\u67fb\u3068\u3001\u6cbb\u7642\u30fb\u7642\u80b2\u306e\u9032\u3081\u65b9\u304c\u30a4\u30e1\u30fc\u30b8\u3067\u304d\u307e\u3059<\/li>\n<\/ul>\n<\/div><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">2q32q33\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\uff08\u5225\u540d\u30fbSATB2\u95a2\u9023\u75c7\u5019\u7fa4\uff09<\/h2>\n\n\n\n<p><strong>2q32q33\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u30012\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u4e00\u90e8\u304c\u751f\u307e\u308c\u3064\u304d\u6b20\u3051\u308b\u3053\u3068\u3067\u3001\u5c0f\u984e\u75c7\u30fb\u53e3\u84cb\u88c2\u30fb\u8a00\u8449\u306e\u9045\u308c\u306a\u3069\u304c\u73fe\u308c\u308b\u3001\u307e\u308c\u306a\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u8133\u3084\u984e\u3001\u53e3\u84cb\u306e\u767a\u9054\u3092\u6307\u63ee\u3059\u308b<em>SATB2<\/em>\u3068\u3044\u3046\u907a\u4f1d\u5b50\u304c\u3042\u308a\u307e\u3059\u3002\u6b20\u5931\u306b\u3088\u3063\u3066\u3053\u306e\u907a\u4f1d\u5b50\u306e\u306f\u305f\u3089\u304d\u304c\u534a\u5206\u306b\u306a\u308a\u3001\u3055\u307e\u3056\u307e\u306a\u75c7\u72b6\u304c\u751f\u3058\u307e\u3059\u3002\u8fd1\u5e74\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u540d\u524d\u3092\u3068\u3063\u3066\u300cSATB2\u95a2\u9023\u75c7\u5019\u7fa4\uff08SATB2-associated syndrome\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u306b\u306a\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u6b74\u53f2\u7684\u306b\u306f\u30011989\u5e74\u306bGlass\u535a\u58eb\u3089\u304c\u6700\u521d\u306b\u5831\u544a\u3057\u305f\u3053\u3068\u304b\u3089\u300c\u30b0\u30e9\u30b9\u75c7\u5019\u7fa4\u300d\u3068\u3082\u547c\u3070\u308c\u3066\u304d\u307e\u3057\u305f\u3002\u547c\u3073\u540d\u306f\u8907\u6570\u3042\u308a\u307e\u3059\u304c\u3001\u6307\u3057\u3066\u3044\u308b\u75c5\u614b\u306f\u307b\u307c\u540c\u3058\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>2q32-q33\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4 \/ 2q32-q33\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>2q33.1\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\uff082q33.1 microdeletion syndrome\uff09\u2026 \u6b20\u5931\u306e\u4e2d\u5fc3\u304cq33.1\u306b\u3042\u308b\u5834\u5408\u306e\u547c\u3073\u65b9\u3067\u3001\u672c\u75c7\u5019\u7fa4\u306e\u4e2d\u6838\u3092\u306a\u3059\u75c5\u614b\u3067\u3059<\/li>\n\n\n\n<li>\u30b0\u30e9\u30b9\u75c7\u5019\u7fa4\uff08Glass syndrome\uff09\u2026 1989\u5e74\u306e\u6700\u521d\u306e\u5831\u544a\u306b\u7531\u6765\u3059\u308b\u6b74\u53f2\u7684\u306a\u5225\u540d\u3067\u3059<\/li>\n\n\n\n<li>SATB2\u95a2\u9023\u75c7\u5019\u7fa4\uff08SATB2-associated syndrome; SAS\uff09\u2026 \u539f\u56e0\u907a\u4f1d\u5b50\u306b\u3082\u3068\u3065\u304f\u73fe\u5728\u306e\u5305\u62ec\u7684\u306a\u547c\u79f0\u3067\u3059<\/li>\n\n\n\n<li>2q32\u30e2\u30ce\u30bd\u30df\u30fc \/ 2q33\u30e2\u30ce\u30bd\u30df\u30fc<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df\u3068\u95a2\u308f\u308b\u907a\u4f1d\u5b50<\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1344\" height=\"768\" src=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17018-h2-1.jpg\" alt=\"\u67d3\u8272\u4f53\u3068DNA\u3092\u7a4f\u3084\u304b\u306b\u8868\u3057\u305f\u30a4\u30e9\u30b9\u30c8\" class=\"wp-image-17845\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17018-h2-1.jpg 1344w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17018-h2-1-300x171.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17018-h2-1-1024x585.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17018-h2-1-768x439.jpg 768w\" sizes=\"(max-width: 1344px) 100vw, 1344px\" \/><\/figure><\/div>\n\n\n<p><strong>\u539f\u56e0\u306e\u4e2d\u5fc3\u306f2\u756a\u67d3\u8272\u4f53\u9577\u8155\uff08q\uff09\u306e32\u301c33\u9818\u57df\u306b\u3042\u308a\u3001\u306a\u304b\u3067\u30822q33.1\u306b\u3042\u308b<em>SATB2<\/em>\u304c\u75c7\u72b6\u306e\u5927\u90e8\u5206\u3092\u8aac\u660e\u3057\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u30d2\u30c8\u306e2\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306b\u3042\u308b\u300c32\u300d\u304b\u3089\u300c33\u300d\u3068\u3044\u3046\u30d0\u30f3\u30c9\u9818\u57df\u3067\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u6b20\u3051\u307e\u3059\u3002\u30b3\u30d4\u30fc\u6570\u304c2\u672c\u304b\u30891\u672c\u306b\u6e1b\u308a\u3001\u907a\u4f1d\u5b50\u306e\u306f\u305f\u3089\u304d\u304c\u4e0d\u8db3\u3059\u308b\u300c\u30cf\u30d7\u30ed\u4e0d\u5168\u300d\u3068\u3044\u3046\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6b20\u5931\u306e\u30b5\u30a4\u30ba\u306f\u6570\u767e\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u304b\u3089\u6570\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u4ee5\u4e0a\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u3002\u7bc4\u56f2\u304c\u5e83\u3044\u307b\u3069\u3001\u5468\u56f2\u306e\u907a\u4f1d\u5b50\u3082\u4e00\u7dd2\u306b\u5931\u308f\u308c\u3001\u76ae\u819a\u3084\u9aea\u306e\u6bdb\u306e\u7570\u5e38\u306a\u3069\u8907\u5408\u7684\u306a\u75c7\u72b6\uff08\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff09\u304c\u52a0\u308f\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u6b20\u5931\u306b\u542b\u307e\u308c\u308b\u4e3b\u306a\u907a\u4f1d\u5b50<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><em>SATB2<\/em>\uff082q33.1\uff09\u2026 \u6700\u91cd\u8981\u306e\u8cac\u4efb\u907a\u4f1d\u5b50\u3002\u5927\u8133\u76ae\u8cea\u3084\u8133\u6881\u306e\u5f62\u6210\u3001\u984e\u3084\u53e3\u84cb\u306e\u5f62\u6210\u3092\u6307\u63ee\u3057\u307e\u3059\u3002\u6b20\u5931\u306f\u91cd\u5ea6\u306e\u8a00\u8a9e\u969c\u5bb3\u30fb\u53e3\u84cb\u88c2\u30fb\u6b6f\u306e\u7570\u5e38\u30fb\u9aa8\u5bc6\u5ea6\u4f4e\u4e0b\u306e\u76f4\u63a5\u306e\u539f\u56e0\u306b\u306a\u308a\u307e\u3059<\/li>\n\n\n\n<li><em>GLI2<\/em>\u2026 \u6b20\u5931\u304c\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\u5074\uff08\u8fd1\u4f4d\uff09\u3078\u5e83\u304c\u3063\u305f\u5834\u5408\u306b\u95a2\u4e0e\u3057\u3046\u308b\u907a\u4f1d\u5b50\u3067\u3001\u8133\u306e\u6b63\u4e2d\u69cb\u9020\u306e\u5f62\u6210\u306b\u95a2\u308f\u308a\u307e\u3059<\/li>\n\n\n\n<li><em>LANCL2 \/ B3GALT1<\/em>\u2026 2q33\u9818\u57df\u306e\u907a\u4f1d\u5b50\u3067\u3001\u514d\u75ab\u3084\u4ee3\u8b1d\u3078\u306e\u95a2\u4e0e\u304c\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u81e8\u5e8a\u75c7\u72b6\u3078\u306e\u5bc4\u4e0e\u306f\u7814\u7a76\u6bb5\u968e\u3067\u3059<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u767a\u751f\u983b\u5ea6<\/h2>\n\n\n\n<p><strong>\u6b63\u78ba\u306a\u983b\u5ea6\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\u306e\u3072\u3068\u3064\u3067\u3001\u691c\u67fb\u306e\u666e\u53ca\u3068\u3068\u3082\u306b\u767a\u898b\u6570\u306f\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>1989\u5e74\u306e\u6700\u521d\u306e\u5831\u544a\u4ee5\u6765\u3001\u4e16\u754c\u3067\u767e\u4f8b\u4ee5\u4e0a\u304c\u5831\u544a\u3055\u308c\u3066\u304d\u307e\u3057\u305f\u3002\u53e3\u84cb\u88c2\u3084\u767a\u9054\u306e\u9045\u308c\u3092\u6301\u3064\u304a\u5b50\u3055\u3093\u306b\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u304c\u884c\u308f\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u3001\u3053\u308c\u307e\u3067\u6c17\u3065\u304b\u308c\u306a\u304b\u3063\u305f\u75c7\u4f8b\u304c\u898b\u3064\u304b\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u7537\u5973\u5dee\u306f\u306a\u304f\u3001\u4eba\u7a2e\u306b\u3088\u308b\u504f\u308a\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e3b\u306a\u75c7\u72b6\u30fb\u7279\u5fb4\uff08\u5c0f\u984e\u75c7\u30fb\u53e3\u84cb\u88c2\u30fb\u8a00\u8a9e\u767a\u9054\u9045\u6ede\uff09<\/h2>\n\n\n\n<p><strong>\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\u3068\u6b6f\u3001\u53e3\u84cb\u88c2\u3001\u91cd\u5ea6\u306e\u8a00\u8449\u306e\u9045\u308c\u3001\u305d\u3057\u3066\u967d\u6c17\u306a\u6027\u683c\u304c\u3001\u3053\u306e\u75c7\u5019\u7fa4\u3092\u898b\u5206\u3051\u308b\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u3068\u304f\u306b\u3001\u3042\u3054\u304c\u5c0f\u3055\u3044\u5c0f\u984e\u75c7\u3092\u8ef8\u3068\u3057\u305f\u300c\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\uff08\u5c0f\u984e\uff0b\u820c\u6839\u6c88\u4e0b\uff0b\u53e3\u84cb\u88c2\uff09\u300d\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u304f\u3001\u65b0\u751f\u5150\u671f\u306e\u547c\u5438\u3084\u54fa\u4e73\u306e\u554f\u984c\u3068\u3057\u3066\u6700\u521d\u306b\u6c17\u3065\u304b\u308c\u307e\u3059\u3002\u5168\u4f53\u50cf\u3092\u4e0b\u306e\u8868\u306b\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>\u9818\u57df<\/th><th>\u4e3b\u306a\u75c7\u72b6<\/th><th>\u983b\u5ea6\u30fb\u7279\u5fb4<\/th><\/tr><\/thead><tbody><tr><td>\u53e3\u8154\u30fb\u9854\u8c8c<\/td><td>\u53e3\u84cb\u88c2\u30fb\u9ad8\u53e3\u84cb\u3001\u5c0f\u984e\u75c7\u3001\u5de8\u5927\u6b6f\uff08\u4e0a\u984e\u4e2d\u5207\u6b6f\uff09<\/td><td>\u53e3\u84cb\u88c2\u306f\u7d04\u534a\u6570\u3002\u5c0f\u984e\u75c7\u306f\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\u306e\u8d77\u70b9<\/td><\/tr><tr><td>\u8a00\u8a9e\u30fb\u8a8d\u77e5<\/td><td>\u91cd\u5ea6\u306e\u8a00\u8a9e\u767a\u9054\u9045\u6ede\u3001\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3<\/td><td>\u300c\u7406\u89e3\u300d\u304c\u300c\u8868\u51fa\u300d\u3088\u308a\u4fdd\u305f\u308c\u308b\u50be\u5411<\/td><\/tr><tr><td>\u884c\u52d5\u30fb\u7cbe\u795e<\/td><td>\u967d\u6c17\u3067\u4eba\u61d0\u3063\u3053\u3044\u3001\u591a\u52d5\u3001\u304b\u3093\u3057\u3083\u304f\u3001\u7761\u7720\u306e\u4e71\u308c<\/td><td>\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u3068\u9593\u9055\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308b<\/td><\/tr><tr><td>\u5916\u80da\u8449<\/td><td>\u8584\u3044\u76ae\u819a\u3001\u7d30\u304f\u5c11\u306a\u3044\u6bdb\u9aea\u3001\u722a\u306e\u7570\u5e38<\/td><td>\u5e83\u3044\u6b20\u5931\u3067\u51fa\u3084\u3059\u304f\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044<\/td><\/tr><tr><td>\u9aa8\u683c\u30fb\u6210\u9577<\/td><td>\u9aa8\u5bc6\u5ea6\u4f4e\u4e0b\u3001\u4f4e\u8eab\u9577\u30fb\u4f4e\u4f53\u91cd\u3001\u5074\u5f2f\u3084\u95a2\u7bc0\u306e\u67d4\u3089\u304b\u3055<\/td><td><em>SATB2<\/em>\u304c\u9aa8\u5f62\u6210\u306b\u95a2\u308f\u308b\u305f\u3081\u82e5\u5e74\u304b\u3089\u6ce8\u610f<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\">\u53e3\u8154\u30fb\u9854\u8c8c\u306e\u7279\u5fb4\uff08\u5c0f\u984e\u75c7\u30fb\u53e3\u84cb\u88c2\u30fb\u5de8\u5927\u6b6f\uff09<\/h3>\n\n\n\n<p>\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306e\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u53e3\u84cb\u88c2\u30fb\u9ad8\u53e3\u84cb\uff1a\u60a3\u8005\u3055\u3093\u306e\u7d04\u534a\u6570\u4ee5\u4e0a\u306b\u3001\u53e3\u306e\u4e2d\u306e\u5929\u4e95\u304c\u5272\u308c\u3066\u3044\u308b\u3001\u3042\u308b\u3044\u306f\u9ad8\u304f\u306a\u3063\u3066\u3044\u308b\u6240\u898b\u304c\u898b\u3089\u308c\u307e\u3059<\/li>\n\n\n\n<li>\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\uff1a\u300c\u3042\u3054\u304c\u6975\u7aef\u306b\u5c0f\u3055\u3044\uff08<strong>\u5c0f\u984e\u75c7<\/strong>\uff09\u300d\u2192\u300c\u820c\u304c\u5965\u306b\u843d\u3061\u8fbc\u3080\uff08\u820c\u6839\u6c88\u4e0b\uff09\u300d\u2192\u300c\u53e3\u84cb\u304c\u9589\u3058\u306a\u3044\u300d\u3068\u3044\u3046\u4e00\u9023\u306e\u5f62\u614b\u7570\u5e38\u3002\u65b0\u751f\u5150\u671f\u306e\u547c\u5438\u56f0\u96e3\u3084\u54fa\u4e73\u969c\u5bb3\u306e\u539f\u56e0\u306b\u306a\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u5de8\u5927\u6b6f<\/strong>\uff1a\u4e0a\u306e\u771f\u3093\u4e2d\u306e\u524d\u6b6f\uff08\u4e0a\u984e\u4e2d\u5207\u6b6f\uff09\u304c\u7570\u5e38\u306b\u5e45\u5e83\u304f\u5927\u304d\u3044\u306e\u304c\u3001\u3068\u3066\u3082\u76ee\u7acb\u3064\u30b5\u30a4\u30f3\u3067\u3059<\/li>\n\n\n\n<li>\u305d\u306e\u4ed6\u306e\u6b6f\uff1a\u6b6f\u306e\u6b20\u640d\u3001\u30a8\u30ca\u30e1\u30eb\u8cea\u5f62\u6210\u4e0d\u5168\u3001\u6b6f\u4e26\u3073\u306e\u4e71\u308c\uff08\u53e2\u751f\uff09\u3082\u3088\u304f\u898b\u3089\u308c\u307e\u3059<\/li>\n\n\n\n<li>\u9854\u3064\u304d\uff1a\u9854\u306e\u975e\u5bfe\u79f0\u3001\u8584\u3044\u4e0a\u5507\u3001\u5e73\u5766\u306a\u4eba\u4e2d\u3001\u4f4e\u3044\u8033\u306e\u4f4d\u7f6e\u306a\u3069\u3002\u6210\u9577\u3068\u3068\u3082\u306b\u3001\u3088\u304f\u7b11\u3046\u611b\u5b0c\u306e\u3042\u308b\u8868\u60c5\u304c\u76ee\u7acb\u3064\u3088\u3046\u306b\u306a\u308a\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u5916\u80da\u8449\u75c7\u72b6\uff08\u76ae\u819a\u30fb\u6bdb\u9aea\u30fb\u722a\uff09<\/h3>\n\n\n\n<p>2q32-q33\u9818\u57df\u304c\u5e83\u304f\u6b20\u3051\u305f\u5834\u5408\u306b\u51fa\u3084\u3059\u3044\u6240\u898b\u3067\u3001\u76ae\u819a\u3084\u9aea\u3001\u722a\u306b\u7279\u5fb4\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u76ae\u819a\uff1a\u8584\u304f\u3001\u8840\u7ba1\u304c\u900f\u3051\u3066\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u6bdb\u9aea\uff1a\u7d30\u304f\u5c11\u306a\u304f\uff08\u758e\u6bdb\uff09\u3001\u4f38\u3073\u308b\u306e\u304c\u9045\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u722a\uff1a\u8584\u3044\u3001\u3042\u308b\u3044\u306f\u5909\u5f62\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd\uff08\u8a00\u8449\u306e\u9045\u308c\uff09<\/h3>\n\n\n\n<p>\u3054\u5bb6\u65cf\u304c\u6700\u3082\u60a9\u307e\u308c\u308b\u306e\u304c\u3001\u8a00\u8449\u306e\u767a\u9054\u3067\u3059\u3002\u3053\u306e\u75c7\u5019\u7fa4\u306b\u306f\u3001\u306f\u3063\u304d\u308a\u3068\u3057\u305f\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u91cd\u5ea6\u306e\u8a00\u8a9e\u767a\u9054\u9045\u6ede\uff1a\u8a00\u8449\u304c\u51fa\u59cb\u3081\u308b\u306e\u304c\u975e\u5e38\u306b\u9045\u304f\u3001\u6570\u8a9e\u3057\u304b\u8a71\u305b\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u307b\u3068\u3093\u3069\u767a\u8a9e\u304c\u306a\u3044\u304a\u5b50\u3055\u3093\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093<\/li>\n\n\n\n<li><strong>\u300c\u7406\u89e3\u300d\u304c\u300c\u8868\u51fa\u300d\u3092\u4e0a\u56de\u308b<\/strong>\uff1a\u8a71\u3059\u306e\u306f\u82e6\u624b\u3067\u3082\u3001\u3053\u3061\u3089\u306e\u8a00\u3046\u3053\u3068\u306f\u3088\u304f\u7406\u89e3\u3057\u3066\u3044\u307e\u3059\u3002\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u3084\u8868\u60c5\u3067\u4e00\u751f\u61f8\u547d\u306b\u6c17\u6301\u3061\u3092\u4f1d\u3048\u3088\u3046\u3068\u3057\u307e\u3059<\/li>\n\n\n\n<li>\u77e5\u7684\u969c\u5bb3\uff1a\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u3092\u3068\u3082\u306a\u3046\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059<\/li>\n\n\n\n<li>\u904b\u52d5\u767a\u9054\uff1a\u6b69\u304d\u59cb\u3081\u306f2\u301c3\u6b73\u3054\u308d\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u6b69\u304d\u65b9\u304c\u4e0d\u5b89\u5b9a\u306a\u3053\u3068\u3082\u3042\u308a\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7279\u6027<\/h3>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u3092\u8c61\u5fb4\u3059\u308b\u306e\u306f\u3001\u4eba\u61d0\u3063\u3053\u304f\u3001\u3088\u304f\u7b11\u3046\u793e\u4ea4\u7684\u306a\u6027\u683c\u3002\u305f\u3060\u3057\u3001\u305d\u306e\u88cf\u5074\u3067\u672c\u4eba\u304c\u62b1\u3048\u308b\u3082\u3069\u304b\u3057\u3055\u306b\u3082\u76ee\u3092\u5411\u3051\u305f\u3044\u3068\u3053\u308d\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u967d\u6c17\u306a\u6027\u683c\uff1a\u3088\u304f\u7b11\u3044\u3001\u793e\u4ea4\u7684\u3067\u3059\u3002\u3053\u306e\u7279\u5fb4\u304b\u3089<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/prader-willi-angelman-syndrome-bp1-bp3\/\">\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4<\/a>\u3068\u9593\u9055\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3066\u3093\u304b\u3093\u306e\u983b\u5ea6\u306a\u3069\u304c\u7570\u306a\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u591a\u52d5\u30fb\u885d\u52d5\u6027\uff1a\u3058\u3063\u3068\u3057\u3066\u3044\u308b\u306e\u304c\u82e6\u624b\u3067\u3001\u6b21\u3005\u3068\u8208\u5473\u304c\u79fb\u308a\u5909\u308f\u308bADHD\u69d8\u306e\u884c\u52d5\u304c\u898b\u3089\u308c\u307e\u3059<\/li>\n\n\n\n<li>\u304b\u3093\u3057\u3083\u304f\u30fb\u653b\u6483\u6027\uff1a\u4f1d\u3048\u305f\u3044\u3053\u3068\u304c\u4f1d\u308f\u3089\u306a\u3044\u3082\u3069\u304b\u3057\u3055\u304b\u3089\u3001\u53e9\u304f\u3001\u7269\u3092\u6295\u3052\u308b\u3068\u3044\u3063\u305f\u884c\u52d5\u306b\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u9ad8\u3044\u75db\u899a\u95be\u5024\uff1a\u75db\u307f\u306b\u920d\u611f\u3067\u3001\u8ee2\u3093\u3067\u3082\u6ce3\u304b\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u7761\u7720\u969c\u5bb3\uff1a\u5bdd\u3064\u304d\u306b\u304f\u3055\u3084\u591c\u9593\u306e\u899a\u9192\u306a\u3069\u3001\u7761\u7720\u30ea\u30ba\u30e0\u304c\u6574\u3044\u306b\u304f\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u9aa8\u683c\u30fb\u6210\u9577<\/h3>\n\n\n\n<p>\u6c17\u3092\u914d\u308a\u305f\u3044\u306e\u306f\u3001\u6210\u9577\u306e\u3086\u3063\u304f\u308a\u3055\u3068\u3001\u9aa8\u306e\u3082\u308d\u3055\u3002\u9577\u3044\u76ee\u3067\u306e\u30d5\u30a9\u30ed\u30fc\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6210\u9577\u969c\u5bb3\uff1a\u80ce\u5150\u671f\u306e\u767a\u80b2\u4e0d\u5168\uff08IUGR\uff09\u3084\u3001\u51fa\u751f\u5f8c\u306e\u4f4e\u8eab\u9577\u30fb\u4f4e\u4f53\u91cd\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u54fa\u4e73\u56f0\u96e3\u304c\u4f53\u91cd\u306e\u5897\u3048\u306b\u304f\u3055\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u9aa8\u5bc6\u5ea6\u306e\u4f4e\u4e0b\uff1a<em>SATB2<\/em>\u306f\u9aa8\u5f62\u6210\u306b\u3082\u95a2\u308f\u308b\u305f\u3081\u3001\u82e5\u5e74\u304b\u3089\u9aa8\u5bc6\u5ea6\u304c\u4f4e\u304f\u3001\u9aa8\u6298\u3057\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u305d\u306e\u4ed6\uff1a\u30af\u30e2\u72b6\u6307\u3001\u5f2f\u6307\u3001\u5074\u5f2f\u75c7\u3001\u95a2\u7bc0\u306e\u904e\u4f38\u5c55\uff08\u4f53\u304c\u67d4\u3089\u304b\u3044\uff09\u306a\u3069\u304c\u898b\u3089\u308c\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0\uff082q32-q33\u306e\u5fae\u7d30\u6b20\u5931\u3068\u30cf\u30d7\u30ed\u4e0d\u5168\uff09<\/h2>\n\n\n\n<p><strong>2\u756a\u67d3\u8272\u4f53\u9577\u8155\uff082q32-q33\uff09\u306e\u5fae\u7d30\u6b20\u5931\u306b\u3088\u3063\u3066<em>SATB2<\/em>\u306a\u3069\u304c\u534a\u5206\u3057\u304b\u306f\u305f\u3089\u304b\u306a\u304f\u306a\u308b\u300c\u30cf\u30d7\u30ed\u4e0d\u5168\u300d\u304c\u3001\u75c7\u72b6\u306e\u672c\u8cea\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30cf\u30d7\u30ed\u4e0d\u5168\u306e\u3057\u304f\u307f<\/h3>\n\n\n\n<p>\u67d3\u8272\u4f53\u304c1\u672c\u3057\u304b\u306a\u3044\u90e8\u5206\u306e\u907a\u4f1d\u5b50\u306f\u3001\u901a\u5e38\u306e\u534a\u5206\u306e\u91cf\u3057\u304b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308c\u307e\u305b\u3093\u3002\u8133\u306e\u914d\u7dda\u3084\u3001\u984e\u30fb\u53e3\u84cb\u306e\u5f62\u6210\u306b\u5fc5\u8981\u306a<em>SATB2<\/em>\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u4e0d\u8db3\u3059\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u56de\u8def\u306e\u5f62\u6210\u4e0d\u5168\u3084\u5f62\u614b\u306e\u7570\u5e38\u304c\u8d77\u3053\u308a\u307e\u3059\u3002\u6b74\u53f2\u7684\u306b\u300c\u30b0\u30e9\u30b9\u75c7\u5019\u7fa4\u300d\u3068\u547c\u3070\u308c\u305f\u75c5\u614b\u3082\u3001\u73fe\u5728\u3067\u306f\u3053\u306e<em>SATB2<\/em>\u3092\u542b\u30802q32-q33\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u307b\u307c\u540c\u3058\u3082\u306e\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u767a\u751f\u6a5f\u5e8f\uff08de novo\u3068\u5bb6\u65cf\u6027\uff09<\/h3>\n\n\n\n<p>2q32q33\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u307b\u307c\u5168\u4f8b\u306f\u3001\u4e21\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u3068\u304d\u3084\u53d7\u7cbe\u306e\u76f4\u5f8c\u306b\u5076\u7136\u751f\u3058\u305f<strong>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\uff09<\/strong>\u3067\u3059\u3002\u89aa\u306e\u5e74\u9f62\u3084\u751f\u6d3b\u7fd2\u6163\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3053\u306e\u5834\u5408\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4e00\u822c\u96c6\u56e3\u3068\u540c\u3058\u7a0b\u5ea6\u3067\u3001\u975e\u5e38\u306b\u4f4e\u3044\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002\u307e\u308c\u306b\u89aa\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u306e\u4fdd\u56e0\u8005\u3067\u3001\u5b50\u306b\u4e0d\u5747\u8861\u306a\u6b20\u5931\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u8a3a\u65ad\u65b9\u6cd5\uff08\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff09<\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1344\" height=\"768\" src=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17018-h2-2.jpg\" alt=\"\u9855\u5fae\u93e1\u3068\u691c\u67fb\u5668\u5177\u3067\u67d3\u8272\u4f53\u691c\u67fb\u3092\u8868\u3057\u305f\u30a4\u30e9\u30b9\u30c8\" class=\"wp-image-17851\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17018-h2-2.jpg 1344w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17018-h2-2-300x171.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17018-h2-2-1024x585.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17018-h2-2-768x439.jpg 768w\" sizes=\"(max-width: 1344px) 100vw, 1344px\" \/><\/figure><\/div>\n\n\n<p><strong>\u8a3a\u65ad\u306e\u7b2c\u4e00\u9078\u629e\u306f\u3001\u6b20\u5931\u306e\u5834\u6240\u3068\u7bc4\u56f2\u3092\u6b63\u78ba\u306b\u8abf\u3079\u3089\u308c\u308b\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u300c\u53e3\u84cb\u88c2\uff08\u3068\u304f\u306b\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\uff09\u300d\u300c\u8a00\u8449\u306e\u9045\u308c\u300d\u300c\u5927\u304d\u306a\u524d\u6b6f\u300d\u306e3\u3064\u304c\u305d\u308d\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u3053\u306e\u75c7\u5019\u7fa4\u304c\u5f37\u304f\u7591\u308f\u308c\u307e\u3059\u3002\u3088\u304f\u4f3c\u305f\u9854\u3064\u304d\u3084\u767a\u9054\u306e\u7d4c\u904e\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/wolf-hirshhorn-syndrome-whs\/\">\u30a6\u30a9\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7\u5019\u7fa4<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/smith-magenis-syndrome\/\">\u30b9\u30df\u30b9\u30fb\u30de\u30ae\u30cb\u30b9\u75c7\u5019\u7fa4<\/a>\u306a\u3069\u3001\u307b\u304b\u306e\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u3082\u898b\u3089\u308c\u308b\u305f\u3081\u3001\u691c\u67fb\u3067\u67d3\u8272\u4f53\u306e\u72b6\u614b\u3092\u78ba\u304b\u3081\u308b\u3053\u3068\u304c\u8a3a\u65ad\u306e\u6c7a\u3081\u624b\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09<\/strong>\uff1a2q32-q33\u9818\u57df\u306e\u6b20\u5931\u3092\u691c\u51fa\u3057\u3001\u305d\u306e\u7bc4\u56f2\u3092bp\u5358\u4f4d\u3067\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002\u6b20\u5931\u306b<em>SATB2<\/em>\u304c\u542b\u307e\u308c\u308b\u304b\u3001\u5468\u56f2\u306e\u3069\u306e\u907a\u4f1d\u5b50\u307e\u3067\u53ca\u3076\u304b\u3092\u77e5\u308b\u3053\u3068\u306f\u3001\u76ae\u819a\u75c7\u72b6\u306e\u6709\u7121\u306a\u3069\u4eca\u5f8c\u3092\u4e88\u6e2c\u3059\u308b\u3046\u3048\u3067\u5f79\u7acb\u3061\u307e\u3059<\/li>\n\n\n\n<li>\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u30fb\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\uff1a<em>SATB2<\/em>\u5358\u72ec\u306e\u70b9\u5909\u7570\u3067\u3082\u540c\u3058\u3088\u3046\u306a\u75c7\u72b6\u304c\u51fa\u308b\u305f\u3081\u3001CMA\u3067\u7570\u5e38\u304c\u306a\u304b\u3063\u305f\u5834\u5408\u306b\u9078\u629e\u3055\u308c\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u898b\u308b<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u3068\u30b5\u30dd\u30fc\u30c8<\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1344\" height=\"768\" src=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17018-h2-3.jpg\" alt=\"\u89aa\u5b50\u304c\u5bc4\u308a\u6dfb\u3044\u652f\u63f4\u3092\u53d7\u3051\u308b\u69d8\u5b50\u3092\u8868\u3057\u305f\u30a4\u30e9\u30b9\u30c8\" class=\"wp-image-17846\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17018-h2-3.jpg 1344w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17018-h2-3-300x171.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17018-h2-3-1024x585.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17018-h2-3-768x439.jpg 768w\" sizes=\"(max-width: 1344px) 100vw, 1344px\" \/><\/figure><\/div>\n\n\n<p><strong>\u6b20\u5931\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u65b9\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u53e3\u84cb\u88c2\u306e\u6cbb\u7642\u3068\u3001\u767a\u9054\u3092\u652f\u3048\u308b\u7642\u80b2\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u6bce\u65e5\u306f\u5927\u304d\u304f\u5909\u308f\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u53e3\u8154\u30fb\u5916\u79d1\u7684\u6cbb\u7642<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u53e3\u84cb\u88c2\u306e\u624b\u8853\uff1a\u5f62\u6210\u5916\u79d1\u3084\u53e3\u8154\u5916\u79d1\u3067\u3001\u53e3\u84cb\u88c2\u3092\u9589\u3058\u308b\u624b\u8853\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li>\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\u306e\u7ba1\u7406\uff1a\u65b0\u751f\u5150\u671f\u306b\u547c\u5438\u56f0\u96e3\u304c\u3042\u308b\u3068\u304d\u306f\u3001\u4f53\u4f4d\u306e\u5de5\u592b\uff08\u8179\u81e5\u4f4d\uff09\u3084\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u820c\u5507\u7652\u7740\u8853\u306a\u3069\u306e\u51e6\u7f6e\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li>\u6b6f\u79d1\u306e\u7ba1\u7406\uff1a\u5de8\u5927\u6b6f\u3084\u6b6f\u4e26\u3073\u3001\u30a8\u30ca\u30e1\u30eb\u8cea\u5f62\u6210\u4e0d\u5168\u306b\u5bfe\u3057\u3066\u9577\u671f\u7684\u306a\u6b6f\u79d1\u7ba1\u7406\u3092\u7d9a\u3051\u307e\u3059\u3002\u866b\u6b6f\u306b\u306a\u308a\u3084\u3059\u3044\u305f\u3081\u3001\u4e88\u9632\u6b6f\u79d1\u306b\u529b\u3092\u5165\u308c\u3066\u304f\u3060\u3055\u3044<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4\uff08\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\u30fbAAC\uff09<\/h3>\n\n\n\n<p>\u79c1\u305f\u3061\u304c\u65e5\u3005\u3054\u5bb6\u65cf\u3068\u5411\u304d\u5408\u3046\u306a\u304b\u3067\u3082\u3001\u6700\u512a\u5148\u306e\u8ab2\u984c\u306b\u306a\u308b\u306e\u304c<strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09<\/strong>\u3067\u3059\u3002\u53e3\u84cb\u88c2\u306b\u3088\u308b\u767a\u97f3\u306e\u3057\u306b\u304f\u3055\u3068\u3001\u8133\u6a5f\u80fd\u306b\u3088\u308b\u8a00\u8449\u306e\u9045\u308c\u306e\u4e21\u9762\u304b\u3089\u30a2\u30d7\u30ed\u30fc\u30c1\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u8a9e\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\u3001\u30b5\u30a4\u30f3\u3084\u7d75\u30ab\u30fc\u30c9\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\uff08VOCA\uff09\u306a\u3069\u306eAAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09\u3092\u65e9\u3044\u6642\u671f\u304b\u3089\u53d6\u308a\u5165\u308c\u307e\u3059\u3002\u300c\u4f1d\u308f\u3063\u305f\u300d\u3068\u3044\u3046\u6210\u529f\u4f53\u9a13\u304c\u304a\u5b50\u3055\u3093\u306e\u81ea\u4fe1\u306b\u306a\u308a\u3001\u3082\u3069\u304b\u3057\u3055\u304b\u3089\u6765\u308b\u304b\u3093\u3057\u3083\u304f\u3092\u548c\u3089\u3052\u3066\u304f\u308c\u307e\u3059\u3002\u6442\u98df\u306e\u9762\u3067\u3082\u3001\u54fa\u4e73\u3084\u56a5\u4e0b\u306e\u56f0\u96e3\u306b\u5408\u308f\u305b\u3066\u98df\u4e8b\u306e\u5f62\u614b\u3092\u8abf\u6574\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u751f\u307e\u308c\u308b\u524d\u304b\u3089\u6cbb\u7642\u3084\u30b1\u30a2\u3092\u5b66\u3079\u308b\u74b0\u5883\u306e\u5927\u5207\u3055\u306f\u3001\u79c1\u81ea\u8eab\u3082\u5f37\u304f\u611f\u3058\u308b\u3068\u3053\u308d\u3067\u3059\u3002\u51fa\u7523\u30b8\u30e3\u30fc\u30ca\u30ea\u30b9\u30c8\u306e<a href=\"https:\/\/x.com\/kawairan\" target=\"_blank\" rel=\"noopener\">@kawairan<\/a>\u3055\u3093\u3082\u3001\u598a\u5a20\u4e2d\u306b\u53e3\u5507\u53e3\u84cb\u88c2\u304c\u308f\u304b\u3063\u305f\u3054\u5bb6\u65cf\u3092\u7523\u79d1\u30fb\u5f62\u6210\u5916\u79d1\u30fb\u8a00\u8a9e\u8074\u899a\u58eb\u304c\u30c1\u30fc\u30e0\u3067\u56f2\u3080\u3068\u3001\u3054\u5bb6\u65cf\u306e\u8868\u60c5\u304c\u898b\u308b\u9593\u306b\u5909\u308f\u3063\u3066\u3044\u3063\u305f\u3001\u3068\u7d39\u4ecb\u3057\u3066\u3044\u307e\u3059\u3002\u65e9\u3081\u306b\u5c02\u9580\u8077\u3068\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u3001\u3054\u5bb6\u65cf\u306e\u5b89\u5fc3\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u5065\u5eb7\u7ba1\u7406\u30fb\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9aa8\u5bc6\u5ea6\u306e\u7ba1\u7406\uff1a\u9aa8\u304c\u3082\u308d\u304f\u306a\u308a\u3084\u3059\u3044\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u9aa8\u5bc6\u5ea6\u691c\u67fb\u3001\u30d3\u30bf\u30df\u30f3D\u30fb\u30ab\u30eb\u30b7\u30a6\u30e0\u306e\u6442\u53d6\u3001\u9069\u5ea6\u306a\u65e5\u5149\u6d74\u3092\u7d9a\u3051\u3066\u304f\u3060\u3055\u3044\u3002\u9aa8\u6298\u306b\u6ce8\u610f\u3057\u307e\u3059<\/li>\n\n\n\n<li>\u795e\u7d4c\u5b66\u7684\u8a55\u4fa1\uff1a\u8133\u6ce2\u691c\u67fb\u3067\u3066\u3093\u304b\u3093\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\uff08\u983b\u5ea6\u306f\u9ad8\u304f\u3042\u308a\u307e\u305b\u3093\u304c\u6cb9\u65ad\u306f\u3067\u304d\u307e\u305b\u3093\uff09\u3002\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u8133MRI\u3067\u69cb\u9020\u3092\u78ba\u8a8d\u3057\u307e\u3059<\/li>\n\n\n\n<li>\u76ae\u819a\u30b1\u30a2\uff1a\u76ae\u819a\u304c\u8584\u304f\u4e7e\u71e5\u3057\u3084\u3059\u3044\u3068\u304d\u306f\u3001\u4fdd\u6e7f\u3092\u4e2d\u5fc3\u306b\u30b9\u30ad\u30f3\u30b1\u30a2\u3092\u884c\u3044\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/h3>\n\n\n\n<p>\u5e0c\u5c11\u306a\u75be\u60a3\u3086\u3048\u306b\u3001\u60c5\u5831\u306e\u5c11\u306a\u3055\u3084\u5c06\u6765\u3078\u306e\u4e0d\u5b89\u304c\u3064\u304d\u3082\u306e\u3067\u3059\u3002\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u304b\u3089\u3001\u9577\u671f\u7684\u306a\u9aa8\u306e\u7ba1\u7406\u3084\u884c\u52d5\u7279\u6027\u3078\u306e\u5bfe\u5fdc\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\u306b\u3064\u3044\u3066\u8aac\u660e\u3092\u53d7\u3051\u3066\u304f\u3060\u3055\u3044\u3002\u3072\u3068\u308a\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u5c02\u9580\u5bb6\u3068\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u529b\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q1. 2q32q33\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\u304c\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u3068\u304d\u306b\u5076\u7136\u8d77\u3053\u308b\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\uff09\u3067\u3059\u3002\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3050\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4e00\u822c\u96c6\u56e3\u3068\u540c\u3058\u7a0b\u5ea6\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u308c\u306b\u89aa\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u306e\u4fdd\u56e0\u8005\u306e\u3053\u3068\u304c\u3042\u308a\u3001\u305d\u306e\u5834\u5408\u306f\u30ea\u30b9\u30af\u304c\u5909\u308f\u308b\u305f\u3081\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q2. \u5c0f\u984e\u75c7\u3084\u53e3\u84cb\u88c2\u306f\u6cbb\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>\u53e3\u84cb\u88c2\u306f\u5f62\u6210\u5916\u79d1\u30fb\u53e3\u8154\u5916\u79d1\u306e\u624b\u8853\u3067\u9589\u3058\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u5c0f\u984e\u75c7\u3092\u8ef8\u3068\u3057\u305f\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\u3067\u65b0\u751f\u5150\u671f\u306b\u547c\u5438\u306e\u30c8\u30e9\u30d6\u30eb\u304c\u3042\u308b\u3068\u304d\u306f\u3001\u4f53\u4f4d\u306e\u5de5\u592b\u3084\u5916\u79d1\u7684\u306a\u51e6\u7f6e\u3067\u7ba1\u7406\u3057\u307e\u3059\u3002\u3042\u3054\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u30d0\u30e9\u30f3\u30b9\u304c\u6574\u3063\u3066\u3044\u304f\u3053\u3068\u3082\u591a\u304f\u3001\u30c1\u30fc\u30e0\u3067\u9577\u671f\u7684\u306b\u652f\u3048\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q3. \u8a00\u8449\u306f\u307e\u3063\u305f\u304f\u8a71\u305b\u306a\u3044\u306e\u3067\u3057\u3087\u3046\u304b\uff1f<\/h3>\n\n\n\n<p>\u767a\u8a9e\u304c\u6570\u8a9e\u306b\u3068\u3069\u307e\u308b\u3001\u3042\u308b\u3044\u306f\u307b\u3068\u3093\u3069\u51fa\u306a\u3044\u304a\u5b50\u3055\u3093\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u305f\u3060\u3057\u300c\u7406\u89e3\u300d\u306f\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u30bf\u30d6\u30ec\u30c3\u30c8\u306a\u3069\u306eAAC\u3092\u4f7f\u3048\u3070\u610f\u601d\u758e\u901a\u306f\u5341\u5206\u306b\u80b2\u3061\u307e\u3059\u3002\u8a71\u305b\u306a\u3044\u3053\u3068\uff1d\u308f\u304b\u3063\u3066\u3044\u306a\u3044\u3001\u3067\u306f\u306a\u3044\u70b9\u3092\u305c\u3072\u77e5\u3063\u3066\u304a\u3044\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q4. \u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u3068\u306f\u3069\u3046\u9055\u3044\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>\u3088\u304f\u7b11\u3044\u4eba\u61d0\u3063\u3053\u3044\u6027\u683c\u304c\u4f3c\u3066\u3044\u308b\u305f\u3081\u9593\u9055\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u539f\u56e0\u3068\u306a\u308b\u67d3\u8272\u4f53\u30fb\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u3066\u3093\u304b\u3093\u306e\u983b\u5ea6\u3084\u6b69\u304d\u65b9\u306e\u7279\u5fb4\u306a\u3069\u3082\u9055\u3044\u3001\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\u306a\u3069\u3067\u533a\u5225\u3067\u304d\u307e\u3059\u3002\u6c17\u306b\u306a\u308b\u5834\u5408\u306f\u5c02\u9580\u533b\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q5. \u3069\u306e\u691c\u67fb\u3067\u8a3a\u65ad\u3067\u304d\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>\u7b2c\u4e00\u9078\u629e\u306f\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u3067\u3001\u6b20\u5931\u306e\u5834\u6240\u3068\u7bc4\u56f2\u3092\u6b63\u78ba\u306b\u8abf\u3079\u3089\u308c\u307e\u3059\u3002CMA\u3067\u7570\u5e38\u304c\u898b\u3064\u304b\u3089\u305a<em>SATB2<\/em>\u5358\u72ec\u306e\u70b9\u5909\u7570\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u3084\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/\">\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u307e\u3068\u3081<\/h2>\n\n\n\n<p>2q32q33\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u30012\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u307e\u308c\u306a\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002\u751f\u307e\u308c\u3064\u304d\u53e3\u84cb\u88c2\u3084\u3042\u3054\u306e\u5c0f\u3055\u3055\uff08\u5c0f\u984e\u75c7\uff09\u304c\u3042\u308a\u3001\u8d64\u3061\u3083\u3093\u306e\u3053\u308d\u306f\u30df\u30eb\u30af\u3092\u98f2\u3080\u306e\u304c\u5927\u5909\u3060\u3063\u305f\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u5927\u304d\u306a\u524d\u6b6f\u304c\u3001\u305d\u306e\u5b50\u3089\u3057\u3044\u30c1\u30e3\u30fc\u30e0\u30dd\u30a4\u30f3\u30c8\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u4e00\u756a\u306e\u5fc3\u914d\u306f\u3001\u3084\u306f\u308a\u300c\u8a00\u8449\u304c\u306a\u304b\u306a\u304b\u51fa\u306a\u3044\u300d\u3053\u3068\u3067\u3057\u3087\u3046\u3002\u3053\u306e\u75be\u60a3\u306b\u306f\u8133\u306e\u8a00\u8449\u3092\u3064\u304b\u3055\u3069\u308b\u90e8\u5206\u306e\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u306b\u306a\u308b\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002\u305d\u308c\u3067\u3082\u3001\u8a71\u305b\u306a\u304f\u3066\u3082\u5fc3\u306e\u4e2d\u3067\u306f\u305f\u304f\u3055\u3093\u306e\u3053\u3068\u3092\u7406\u89e3\u3057\u3066\u3044\u307e\u3059\u3002\u30cb\u30b3\u30cb\u30b3\u3068\u3001\u8eab\u632f\u308a\u624b\u632f\u308a\u3067\u4e00\u751f\u61f8\u547d\u306b\u6c17\u6301\u3061\u3092\u4f1d\u3048\u3066\u304f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7d75\u30ab\u30fc\u30c9\u3084\u30bf\u30d6\u30ec\u30c3\u30c8\u3092\u4f7f\u3048\u3070\u3001\u3084\u308a\u3068\u308a\u306f\u3082\u3063\u3068\u30b9\u30e0\u30fc\u30ba\u306b\u306a\u308a\u307e\u3059\u3002\u9aa8\u304c\u5c11\u3057\u5f31\u3044\u50be\u5411\u304c\u3042\u308b\u306e\u3067\u3001\u30ab\u30eb\u30b7\u30a6\u30e0\u3092\u6442\u308a\u3001\u5b9a\u671f\u7684\u306b\u30c1\u30a7\u30c3\u30af\u3092\u53d7\u3051\u3066\u304f\u3060\u3055\u3044\u3002\u53e3\u84cb\u88c2\u306e\u6cbb\u7642\u3001\u3053\u3068\u3070\u306e\u7df4\u7fd2\u3001\u6b6f\u306e\u30b1\u30a2\u3068\u3001\u3084\u308b\u3053\u3068\u306f\u591a\u3044\u3067\u3059\u304c\u3001\u3072\u3068\u3064\u305a\u3064\u9032\u3081\u3066\u3044\u3051\u3070\u5927\u4e08\u592b\u3067\u3059\u3002\u533b\u5e2b\u30fb\u6b6f\u79d1\u533b\u30fb\u8a00\u8a9e\u8074\u899a\u58eb\u30fb\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u304a\u5b50\u3055\u3093\u306e\u6210\u9577\u3092\u4e00\u7dd2\u306b\u652f\u3048\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Zarate YA, Bosanko KA, Fish J. <em>SATB2-Associated Syndrome<\/em>. GeneReviews&reg; [Internet]. University of Washington, Seattle.\uff08<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK458647\/\" target=\"_blank\" rel=\"noopener\">https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK458647\/<\/a>\uff09\u2026 \u9aa8\u5bc6\u5ea6\u691c\u67fb\u3084\u6b6f\u79d1\u7ba1\u7406\u306a\u3069\u3001\u5305\u62ec\u7684\u306a\u7ba1\u7406\u6307\u91dd\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059<\/li>\n\n\n\n<li>MedlinePlus Genetics. <em>SATB2-associated syndrome<\/em>. U.S. National Library of Medicine.\uff08<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/satb2-associated-syndrome\/\" target=\"_blank\" rel=\"noopener\">https:\/\/medlineplus.gov\/genetics\/condition\/satb2-associated-syndrome\/<\/a>\uff09\u2026 \u75c7\u72b6\u3084\u539f\u56e0\u3092\u4e00\u822c\u5411\u3051\u306b\u307e\u3068\u3081\u305f\u516c\u7684\u8cc7\u6599\u3067\u3059<\/li>\n\n\n\n<li>Zarate YA, et al. (2019). <em>Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.<\/em> American Journal of Medical Genetics Part A.\uff08\u5de8\u5927\u6b6f\u30fb\u9aa8\u5bc6\u5ea6\u4f4e\u4e0b\u30fb\u8a00\u8a9e\u969c\u5bb3\u306e\u30d1\u30bf\u30fc\u30f3\u3092\u5b9a\u7fa9\u3057\u305f\u5927\u898f\u6a21\u7814\u7a76\uff09<\/li>\n\n\n\n<li>Balasubramanian M, et al. (2011). <em>Case series: 2q33.1 microdeletion syndrome\u2014further delineation of the phenotype.<\/em> Journal of Medical Genetics.\uff08<em>SATB2<\/em>\u304c\u8868\u73fe\u578b\u306e\u4e2d\u5fc3\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u305f\u8ad6\u6587\uff09<\/li>\n\n\n\n<li>Glass IA, et al. (1989). <em>Two unrelated patients with de novo microdeletion of 2q involving a recognizable syndrome.<\/em>\uff08\u300c\u30b0\u30e9\u30b9\u75c7\u5019\u7fa4\u300d\u306e\u7531\u6765\u3068\u306a\u3063\u305f\u6700\u521d\u306e\u75c7\u4f8b\u5831\u544a\uff09<\/li>\n\n\n\n<li>Unique\uff08The Rare Chromosome Disorder Support Group\uff09. <em>2q33.1 microdeletion syndrome<\/em>.\uff08\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u30b1\u30a2\u3084\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\uff09<\/li>\n<\/ul>\n\n\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"FAQPage\",\n  \"mainEntity\": [\n    {\n      \"@type\": \"Question\",\n      \"name\": \"2q32q33\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": 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