Uniparental disomy testing in robertsonian translocation carriers

Introduction: Carriers of the most common balanced structural rearrangements Robertsonian translocations (ROBs) are at increased risk of producing offspring with aneuploidy or uniparental disomy (UPD). Estimated incidence of UPD of any chromosome is 1:3,500 live births, around 50% of these cases in the UPD databases are associated with acrocentric chromosomes and over 10% of these acrocentric derived UPDs involve Robertsonian translocation. Among the acrocentric chromosomes, 14 and 15 have been established as imprinted with defined clinical phenotype. We report prenatal case of paternal UPD14 in an offspring of the der(13;14) carrier.