Abstract
Parental ages associated with both maternal and paternal uniparental disomy (UPD) of chromosome 15 are highly elevated in comparison to Zurich population-based controls, with mean maternal and paternal ages of 35.6 and 38.1, respectively for UPD patients (diagnosed in Zurich) and 28.0 and 31.0, in controls. The parental ages are also significantly higher than observed for trisomies of other chromosomes diagnosed in Zurich. The higher age of UPD cases may be due to the fact that two errors, both a gain and a loss of a chromosome 15, are necessary. We suggest that gamete complementation, zygote formation from two gametes one of which is nullisomic and the other disomic for the same chromosome, may be a major mechanism of UPD formation, as well as secondary loss of a chromosome in a trisomic conception, and that there is an association between increased paternal age and nondisjunction.
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Acknowledgements
This project was supported in part by the EMDO Stiftung, Zurich and Swiss National Foundation grant B 2006.295.3412 (W.P.R. and A.S.); work in S.M. lab was generously funded by Action Research and the Medical Research Council UK. We thank Dr. G. Gillessen-Kaesbach and Prof. E. Passarge for clinical evaluation of the Essen patients.
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Robinson, W.P., Lorda-Sanchez, I., Malcolm, S. et al. Increased Parental Ages and Uniparental Disomy 15: A Paternal Age Effect?. Eur J Hum Genet 1, 280–286 (1993). https://doi.org/10.1159/000472425
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DOI: https://doi.org/10.1159/000472425
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