The origin of trisomy 13
The origin of trisomy 13
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.
trisomy, recombination, maternal age, non-disjunction
2242-2248
Hall, Heather E.
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Chan, E. Ricky
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Collins, Andrew
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Judis, LuAnn
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Shirley, Sofia
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Surti, Urvashi
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Hoffner, Lori
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Cockwell, Annette E.
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Jacobs, Patricia A.
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Hassold, Terry J.
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1 October 2007
Hall, Heather E.
237de28f-1711-488a-9cfd-f819baec3c28
Chan, E. Ricky
6949850e-2e3b-45a4-b5c6-cbefa6f0f690
Collins, Andrew
7daa83eb-0b21-43b2-af1a-e38fb36e2a64
Judis, LuAnn
d5e9b051-974e-45a7-beac-1066802deb59
Shirley, Sofia
ffac5a02-9df6-42c2-ab25-8618aea78ad1
Surti, Urvashi
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Hoffner, Lori
750b7a35-c4d4-49ac-b8dd-982b1bfa28f5
Cockwell, Annette E.
252576cd-5b43-4f9b-8f35-01a0d83e4e51
Jacobs, Patricia A.
d87ec15b-13c3-4868-96f1-b4b99030fa5b
Hassold, Terry J.
93117e5b-0687-4fd2-9816-97c2972824a0
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), .
(doi:10.1002/ajmg.a.31913).
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
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Date deposited: 08 Oct 2008
Last modified: 16 Mar 2024 02:42
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Contributors
Author:
Heather E. Hall
Author:
E. Ricky Chan
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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