Suppr超能文献

因双着丝粒染色体(14)(p11)导致的14号染色体嵌合三体胎儿的产前诊断及尸检研究

Prenatal diagnosis and post-mortem study of a fetus with mosaic trisomy 14 due to a dic(14)(p11).

作者信息

Lambert I, Kemp J, Jackson J, Joyce H, Mann S, Kan A, Smith A

机构信息

Department of Genetics, Children's Hospital, Camperdown, NSW, Australia.

出版信息

Prenat Diagn. 1994 Jun;14(6):507-10. doi: 10.1002/pd.1970140617.

Abstract

Amniocentesis at 17 weeks' gestation revealed a mosaic karyotype--46,XX/46,XX,-14,+dic(14)(p11). No abnormalities were detected on ultrasound. Growth and placentation were normal. The fetus was examined after termination of pregnancy and micrognathia and pulmonary hyperlobation were the only abnormalities detected. Several tissues were set up for cytogenetics, including fetal skin, kidney, ovary, and placenta. The diagnosis was confirmed by these studies. The level of mosaicism varied between tissues, with the trisomy 14 cell line highest in amniotic fluid.

摘要

孕17周时进行羊膜穿刺术,结果显示为嵌合核型——46,XX/46,XX,-14,+dic(14)(p11)。超声检查未发现异常。生长和胎盘形成均正常。终止妊娠后对胎儿进行检查,仅发现小颌畸形和肺叶过度分叶。取了包括胎儿皮肤、肾脏、卵巢和胎盘在内的多个组织进行细胞遗传学检查。这些研究证实了诊断。各组织间的嵌合水平有所不同,14三体细胞系在羊水中最高。

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