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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Acknowledgements
We are indebted to the families of MW and LT, without whom this study could not have taken place. We thank Dr J Flint and Dr L Kearney for kindly donating the panel of subtelomere clones used in this study and Will Tapper for his expert database analysis. We are particularly grateful to Prof PA Jacobs and Dr JA Crolla for their advice and encouragement. We also wish to thank Mary Hart and Rebecca Protheroe for maintaining the library of FISH probes.
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Joyce, C., Dennis, N., Howard, F. et al. An 11p;17p telomeric translocation in two families associated with recurrent miscarriages andMiller-Dieker syndrome. Eur J Hum Genet 10, 707–714 (2002). https://doi.org/10.1038/sj.ejhg.5200882
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DOI: https://doi.org/10.1038/sj.ejhg.5200882
