Publication: The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age
The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age
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Ginsburg, C., Fokstuen, S., & Schinzel, A. (2000). The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age. American Journal of Medical Genetics, 95(5), 454–460. https://doi.org/10.1002/1096-8628(20001218)95:5<454::AID-AJMG9>3.0.CO;2-O
Abstract
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Most instances of maternal uniparental disomy (UPD) start as trisomies and, similar to the latter, show a significant increase of mean maternal age at delivery. To investigate the incidence of UPD in offspring of older mothers, we investigated two groups of patients: 1) 50 patients with unclassified developmental defects born to mothers 35 years or older at delivery were tested for UPD for all autosomes by means of microsatellite marker analysis; 2) The incidence of UPD versus other etiologies in correlation, with maternal age below v
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- Ginsburg, Claudia
- Fokstuen, Siv
- Schinzel, Albert
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Ginsburg, C., Fokstuen, S., & Schinzel, A. (2000). The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age. American Journal of Medical Genetics, 95(5), 454–460. https://doi.org/10.1002/1096-8628(20001218)95:5<454::AID-AJMG9>3.0.CO;2-O
