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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


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.

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


Local EPrints ID: 24789
ISSN: 1018-4813
PURE UUID: 9fc3d41f-e191-4562-82ed-8d815acde92e

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

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

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