The University of Southampton
University of Southampton Institutional Repository

Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defect

Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defect
Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defect
Trisomy 6 is seen in early miscarriages in association with an intact, empty amniotic sac or as a pseudomosaic in amniotic fluid cultures. We report the finding of mosaic trisomy 6 in a 23-week-gestation pregnancy terminated because of intrauterine death. The post-mortem showed a well formed macerated male fetus with an atrioventricular septal defect and an exomphalos. By conventional cytogenetics, trisomy 6 was found in 12 out of 25 (48%) fibroblast colonies from fetal skin and 21 out of 32 (66%) colonies derived from amnion, while the remaining metaphases showed an apparently normal male karyotype. Molecular genetic studies on DNA from uncultured fetal skin and cord samples using polymorphic microsatellite repeat sequences showed no evidence of trisomy 6, but demonstrated that both chromosome 6 homologs were of maternal origin consistent with maternal uniparental disomy (UPD).
1552-4825
624-627
Cockwell, A. E.
270dbf0d-4256-4f8f-b2d5-9de8bad1c30d
Baker, S. J.
f5444528-bbed-4116-b32d-c6c41edb62d9
Connarty, M.
410cf872-91f8-4232-aa62-bc603c35d72e
Moore, I. E.
2348e066-8e2a-43e0-8286-1bcf7e64e479
Crolla, J. A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Cockwell, A. E.
270dbf0d-4256-4f8f-b2d5-9de8bad1c30d
Baker, S. J.
f5444528-bbed-4116-b32d-c6c41edb62d9
Connarty, M.
410cf872-91f8-4232-aa62-bc603c35d72e
Moore, I. E.
2348e066-8e2a-43e0-8286-1bcf7e64e479
Crolla, J. A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c

Cockwell, A. E., Baker, S. J., Connarty, M., Moore, I. E. and Crolla, J. A. (2006) Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defect. American Journal of Medical Genetics: Part A, 140A (6), 624-627. (doi:10.1002/ajmg.a.31129).

Record type: Article

Abstract

Trisomy 6 is seen in early miscarriages in association with an intact, empty amniotic sac or as a pseudomosaic in amniotic fluid cultures. We report the finding of mosaic trisomy 6 in a 23-week-gestation pregnancy terminated because of intrauterine death. The post-mortem showed a well formed macerated male fetus with an atrioventricular septal defect and an exomphalos. By conventional cytogenetics, trisomy 6 was found in 12 out of 25 (48%) fibroblast colonies from fetal skin and 21 out of 32 (66%) colonies derived from amnion, while the remaining metaphases showed an apparently normal male karyotype. Molecular genetic studies on DNA from uncultured fetal skin and cord samples using polymorphic microsatellite repeat sequences showed no evidence of trisomy 6, but demonstrated that both chromosome 6 homologs were of maternal origin consistent with maternal uniparental disomy (UPD).

Full text not available from this repository.

More information

Published date: 2006

Identifiers

Local EPrints ID: 24659
URI: http://eprints.soton.ac.uk/id/eprint/24659
ISSN: 1552-4825
PURE UUID: 3e923840-a5e5-409c-95af-07c53962bdd5

Catalogue record

Date deposited: 04 Apr 2006
Last modified: 15 Jul 2019 19:17

Export record

Altmetrics

Contributors

Author: A. E. Cockwell
Author: S. J. Baker
Author: M. Connarty
Author: I. E. Moore
Author: J. A. Crolla

University divisions

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×