Suppr超能文献

来自一名携带5号染色体短臂臂内倒位的女性的细胞遗传学重组体。

Cytogenetic recombinants from a female carrying a paracentric inversion of the short arm of chromosome number 5.

作者信息

Valcárcel E, Benítez J, Martínez P, Rey J A, Sánchez Cascos A

出版信息

Hum Genet. 1983;63(1):78-81. doi: 10.1007/BF00285405.

Abstract

We present a family, identified through a girl with "Cri-du-chat syndrome", in which two different types of recombinants exist [del(5)(qter leads to p14:) and dup(5)(p13)]. They are due to a 5p paracentric inversion of maternal origin [inv(5)(pter p13)]. We discuss the relationship between the breakpoints and segregation of the inversion carrier, as well as the origin and the identification of the recombinants.

摘要

我们展示了一个通过患有“猫叫综合征”的女孩鉴定出的家系,其中存在两种不同类型的重组体[del(5)(qter→p14:)和dup(5)(p13)]。它们是由母源的5号染色体臂间倒位[inv(5)(pter p13)]导致的。我们讨论了倒位携带者的断点与分离之间的关系,以及重组体的起源和鉴定。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验