首页   按字顺浏览 期刊浏览 卷期浏览 Mosaicism for ring and isopseudodicentric chromosome 13
Mosaicism for ring and isopseudodicentric chromosome 13

 

作者: Holly Hutchinson‐Cole,   Kirk A. Aleck,   John R. Davis,   Iris C. Veomett,   Lynn Hauck,  

 

期刊: Clinical Genetics  （WILEY Available online 1986）
卷期: Volume 29, issue 1  

页码: 88-91

 

ISSN:0009-9163

 

年代: 1986

 

DOI:10.1111/j.1399-0004.1986.tb00776.x

 

出版商: Blackwell Publishing Ltd

 

关键词: Dicentric;duplication‐deficiency chromosome 13;isopseudodicentric;mosaicism;ring chromosome 13

 

数据来源: WILEY

 

摘要:

A three‐month‐old female infant with multiple malformations was noted on routine cytogenetic evaluation to have dicentric/ring mosaicism of chromosome 13. Additional cytogenic investigations indicated that the dicentric could be further defined as an isopseudodicentric. Unlike the double chromosome break in the more common ring 13 cases, the mechanism for isopseudo‐dicentric/ring generation is attributed to chromosome and chromatid breaks with subsequent bridging, breaking and fusion. The phenotypic features are those of a combined duplication‐deficiency of chromo

 

点击下载:  PDF (313KB)



返 回