An 11p;17p telomeric translocation in two families associated with recurrent miscarriages and Miller-Dieker syndrome
An 11p;17p telomeric translocation in two families associated with recurrent miscarriages and Miller-Dieker syndrome
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.
recurrent miscarriages, miller-dieker syndrome, subtelomere fish, cryptic rearrangements
707-714
Joyce, Christine A.
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Dennis, Nicholas R.
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Howard, Francis
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Davis, Louisa M.
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Thomas, N. Simon
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2002
Joyce, Christine A.
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Dennis, Nicholas R.
154aa617-52e2-4711-98ef-89fef8610de7
Howard, Francis
de5b4ebb-0a0a-4e61-bec1-bd15532d5027
Davis, Louisa M.
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Thomas, N. Simon
1a601957-288d-4f12-a9f7-4f4279b7f9b3
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), .
(doi:10.1038/sj.ejhg.5200882).
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.
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Published date: 2002
Keywords:
recurrent miscarriages, miller-dieker syndrome, subtelomere fish, cryptic rearrangements
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Local EPrints ID: 24789
URI: http://eprints.soton.ac.uk/id/eprint/24789
ISSN: 1018-4813
PURE UUID: 9fc3d41f-e191-4562-82ed-8d815acde92e
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Date deposited: 05 Apr 2006
Last modified: 15 Mar 2024 06:58
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Contributors
Author:
Christine A. Joyce
Author:
Nicholas R. Dennis
Author:
Francis Howard
Author:
Louisa M. Davis
Author:
N. Simon Thomas
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