A Systematic Search for Uniparental Disomy in Carriers of Chromosome Translocations
- 1 January 1994
- journal article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 2 (2) , 83-95
- https://doi.org/10.1159/000472348
Abstract
A systematic search was made for uniparental disomy in carriers of apparently balanced chromosome translocations who also had unexplained abnormalities of mental or physical development. Of 65 families studied, biparental origin of both translocated chromosomes was demonstrated in 64, and only 1 case of maternal uniparental disomy of chromosome 14 was detected in the carrier of a Robertsonian t(13q14q). We conclude that uniparental disomy is a rare occurrence in this population.Keywords
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