Increased Parental Ages and Uniparental Disomy 15: A Paternal Age Effect?

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 c...

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Veröffentlicht in:European journal of human genetics : EJHG 1993, Vol.1 (4), p.280-286
Hauptverfasser: Robinson, W.P., Lorda-Sanchez, I., Malcolm, S., Langlois, S., Schuffenhauer, S., Knoblauch, H., Horsthemke, B., Schinzel, A.A.
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Sprache:eng
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Zusammenfassung: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 nullisomie and the other disomie for the same chromosome, may be a major mechanism of UPD formation, as well as secondary loss of a chromosome in a trisomie conception, and that there is an association between increased paternal age and nondisjunction.
ISSN:1018-4813
1476-5438
DOI:10.1159/000472425