The University of Southampton
University of Southampton Institutional Repository

An 11p;17p telomeric translocation in two families associated with recurrent miscarriages and Miller-Dieker syndrome

Joyce, Christine A., Dennis, Nicholas R., Howard, Francis, Davis, Louisa M. and Thomas, N. Simon (2002) An 11p;17p telomeric translocation in two families associated with recurrent miscarriages and Miller-Dieker syndrome European Journal of Human Genetics, 10, (11), pp. 707-714. (doi:10.1038/sj.ejhg.5200882).

Record type: Article

Abstract

Translocations occur in a proportion of couples affected by recurrent miscarriages. We describe two such families in which the underlying cause was a cryptic subtelomeric 11p;17p translocation detected only after the birth of an affected child carrying an unbalanced form of the rearrangement. Unbalanced subtelomeric rearrangements are now recognised as a significant cause of mental impairment and we believe that these rearrangements may also be an important cause of recurrent miscarriages. In these two families the translocation is most likely to have arisen from a single ancestral event because all translocation carriers shared almost identical haplotypes around the breakpoints on both chromosomes.

PDF 24789.pdf - Version of Record
Restricted to Repository staff only
Download (1MB)

More information

Published date: 2002
Keywords: recurrent miscarriages, miller-dieker syndrome, subtelomere fish, cryptic rearrangements

Identifiers

Local EPrints ID: 24789
URI: http://eprints.soton.ac.uk/id/eprint/24789
ISSN: 1018-4813
PURE UUID: 9fc3d41f-e191-4562-82ed-8d815acde92e

Catalogue record

Date deposited: 05 Apr 2006
Last modified: 17 Jul 2017 16:12

Export record

Altmetrics

Contributors

Author: Christine A. Joyce
Author: Nicholas R. Dennis
Author: Francis Howard
Author: Louisa M. Davis
Author: N. Simon Thomas

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.

×