Suppr超能文献

一例具有两条双着丝粒等长臂Y染色体的特纳变异型病例中的着丝粒失活

Centromere inactivation in a case of Turner variant with two dicentric iso-long arm Y chromosomes.

作者信息

Schmid W, D'Apuzzo V

出版信息

Hum Genet. 1978 Mar 17;41(2):217-23. doi: 10.1007/BF00273104.

Abstract

A 6-year-old girl of small stature and with some features of Turner's syndrome was found to have a karyotype with two-thirds of the cells possessing one, and one-third with two dicentric iso-long arm Y chromosomes. In metaphases with 46 chromosomes the majority of the abnormal Ys exhibited two primary constrictions. In cells with 47 chromosomes both isochromosomes prevalently had only one active centromere.

摘要

一名身材矮小且具有一些特纳综合征特征的6岁女孩,其核型显示三分之二的细胞含有一条双着丝粒等长臂Y染色体,三分之一的细胞含有两条。在具有46条染色体的中期相中,大多数异常Y染色体表现出两个初级缢痕。在具有47条染色体的细胞中,两条等臂染色体普遍仅具有一个活跃的着丝粒。

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