Suppr超能文献

平衡的新发易位t(6;7)(p25;q31)与孤立性腭裂。

Balanced de novo translocation t(6;7)(p25;q31) and cleft palate as an isolated finding.

作者信息

Balci S, Aypar E, Son Y Aydin, Beksaç M S

机构信息

Department of Clinical Genetics, Hacettepe University, Ihsan Doğramaci Children's Hospital, 06100 Sihhiye, Ankara, Turkey.

出版信息

Genet Couns. 2004;15(3):317-20.

Abstract

We report a prenatally diagnosed balanced de novo translocation t(6;7)(p25;q31). Physical examination of the baby born at term revealed only a posterior cleft palate. Laboratory examinations and radiologic investigations were found normal. Two years follow-up of the patient showed her mental and motor development was appropriate with her age. Our report is the first observation on balanced de novo translocation t(6;7)(p25;q31) and cleft palate. Association of this translocation and cleft palate has not been reported previously.

摘要

我们报告了一例产前诊断的平衡型新发易位t(6;7)(p25;q31)。对足月出生的婴儿进行体格检查发现仅有后腭裂。实验室检查和影像学检查均正常。对该患者进行两年的随访发现其智力和运动发育与年龄相符。我们的报告是关于平衡型新发易位t(6;7)(p25;q31)与腭裂的首次观察。此前尚未报道过这种易位与腭裂的关联。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验