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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).

Record type: Article

Abstract

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.

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Published date: 1 October 2007
Keywords: trisomy, recombination, maternal age, non-disjunction

Identifiers

Local EPrints ID: 59798
URI: http://eprints.soton.ac.uk/id/eprint/59798
ISSN: 1552-4825
PURE UUID: 37f711d3-8897-4278-a145-a9b6789604e1
ORCID for Andrew Collins: ORCID iD orcid.org/0000-0001-7108-0771

Catalogue record

Date deposited: 08 Oct 2008
Last modified: 17 Jul 2017 14:24

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Contributors

Author: Heather E. Hall
Author: E. Ricky Chan
Author: Andrew Collins ORCID iD
Author: LuAnn Judis
Author: Sofia Shirley
Author: Urvashi Surti
Author: Lori Hoffner
Author: Annette E. Cockwell
Author: Patricia A. Jacobs
Author: Terry J. Hassold

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