Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Stable dicentric duplication‐deficiency chromosome 14 resulting from crossing‐over within a maternal paracentric inversion

Stable dicentric duplication‐deficiency chromosome 14 resulting from crossing‐over within a... We report on the extremely rare occurrence of a stable dicentric duplication‐deletion chromosome 14 in a viable offspring with multiple malformations and developmental delay. This abnormality was derived from a maternal paracentric inversion in the long arm of chromosome 14. Both classical and molecular cytogenetic techniques were used to perform the chromosomal investigation of this structural abnormality. The immunofluorescent labeling of centromeric proteins shows only one functional centromere on the rearranged chromosome 14. The present observation confirms that paracentric inversions may lead to stable recombinant chromosomes. © 2002 Wiley‐Liss, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Part A Wiley

Stable dicentric duplication‐deficiency chromosome 14 resulting from crossing‐over within a maternal paracentric inversion

Loading next page...
 
/lp/wiley/stable-dicentric-duplication-deficiency-chromosome-14-resulting-from-uKhoIGHH3R

References (18)

Publisher
Wiley
Copyright
Copyright © 2002 Wiley Subscription Services, Inc., A Wiley Company
ISSN
1552-4825
eISSN
1552-4833
DOI
10.1002/ajmg.b.10720
pmid
12457404
Publisher site
See Article on Publisher Site

Abstract

We report on the extremely rare occurrence of a stable dicentric duplication‐deletion chromosome 14 in a viable offspring with multiple malformations and developmental delay. This abnormality was derived from a maternal paracentric inversion in the long arm of chromosome 14. Both classical and molecular cytogenetic techniques were used to perform the chromosomal investigation of this structural abnormality. The immunofluorescent labeling of centromeric proteins shows only one functional centromere on the rearranged chromosome 14. The present observation confirms that paracentric inversions may lead to stable recombinant chromosomes. © 2002 Wiley‐Liss, Inc.

Journal

American Journal of Medical Genetics Part AWiley

Published: Mar 15, 2003

Keywords: ; ;

There are no references for this article.