Suppr超能文献

两名患有家族性易位rcp(1;7)(q32;q34)不平衡分离的新生儿出现独眼畸形和口鼻发育不全。

Cyclopia and cebocephaly in two newborn infants with unbalanced segregation of a familial translocation rcp (1;7)(q32;q34).

作者信息

Schinzel A

出版信息

Am J Med Genet. 1984 May;18(1):153-61. doi: 10.1002/ajmg.1320180119.

Abstract

This is a report of a family with a balanced reciprocal translocation, rcp (1;7)(q32;q34). Among pregnancies from translocation carriers, there were several miscarriages, and two unbalanced offspring with dup(1q32----qter) and del (7q34----qter) who died perinatally. One was a male cyclops with additional brain malformations and hydronephrosis, the other was a cebocephalic female with multiple additional malformations of heart, kidneys, and skeleton. In both pregnancies, the brain and renal anomalies were detected prenatally by ultrasound, in the cyclops during the 32nd and in the cebocephalic fetus during the 28th week of gestation.

摘要

这是一份关于一个患有平衡相互易位rcp(1;7)(q32;q34)的家庭的报告。在易位携带者的妊娠中,有多次流产,还有两个不平衡的后代,分别为dup(1q32----qter)和del(7q34----qter),均在围产期死亡。一个是患有额外脑部畸形和肾积水的独眼男性,另一个是患有心脏、肾脏和骨骼多处额外畸形的无脑女婴。在这两次妊娠中,脑部和肾脏异常均在产前通过超声检测到,独眼胎儿在妊娠第32周时检测到,无脑女胎在妊娠第28周时检测到。

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