The origin of trisomy 13

Hall, Heather E., Chan, E. Ricky, Collins, Andrew, Judis, LuAnn, Shirley, Sofia, Surti, Urvashi, Hoffner, Lori, Cockwell, Annette E., Jacobs, Patricia A. and Hassold, Terry J. (2007) The origin of trisomy 13 American Journal of Medical Genetics Part A, 143A, (19), pp. 2242-2248. (doi:10.1002/ajmg.a.31913).


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Trisomy 13 is one of the most common trisomies in clinically recognized pregnancies and one of the few trisomies identified in liveborns, yet relatively little is known about the errors that lead to trisomy 13. Accordingly, we initiated studies to investigate the origin of the extra chromosome in 78 cases of trisomy 13. Our results indicate that the majority of cases (>91%) are maternal in origin and, similar to other autosomal trisomies, the extra chromosome is typically due to errors in meiosis I. Surprisingly, however, a large number of errors also occur during maternal meiosis II ( approximately 37%), distinguishing trisomy 13 from other acrocentric and most nonacrocentric chromosomes. As with other trisomies, failure to recombine is an important contributor to nondisjunction of chromosome 13.

Item Type: Article
Digital Object Identifier (DOI): doi:10.1002/ajmg.a.31913
ISSNs: 1552-4825 (print)
Related URLs:
Keywords: trisomy, recombination, maternal age, non-disjunction
ePrint ID: 59798
Date :
Date Event
1 October 2007Published
Date Deposited: 08 Oct 2008
Last Modified: 16 Apr 2017 17:33
Further Information:Google Scholar

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