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), 707-714. (doi:10.1038/sj.ejhg.5200882).

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Original Publication URL: http://dx.doi.org/10.1038/sj.ejhg.5200882

Description/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.

Item Type: Article
ISSNs: 1018-4813 (print)
Related URLs:
Keywords: recurrent miscarriages, miller-dieker syndrome, subtelomere fish, cryptic rearrangements
Subjects: H Social Sciences > HQ The family. Marriage. Woman
R Medicine > R Medicine (General)
Q Science > QH Natural history > QH426 Genetics
Divisions: University Structure - Pre August 2011 > School of Medicine > Human Genetics
ePrint ID: 24789
Date Deposited: 05 Apr 2006
Last Modified: 27 Mar 2014 18:13
URI: http://eprints.soton.ac.uk/id/eprint/24789

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