Prenatal UPD testing survey in Robertsonian translocations

A systematic search was made for uniparental disomy (UPD) in familial or de novo balanced Robertsonian translocations, identified by prenatal cytogene tic investigations. Parent-of-origin studies were performed using molecular markers for both chromosomes involved in the translocation. No UPD cases w ere identified out of 23 analysed cases. The results presented here, combin ed with other available data, provide preliminary elements for genetic coun selling in these common chromosomal rearrangements. Copyright (C) 2000 John Wiley & Sons.