Risk estimates for uniparental disomy following prenatal detection of a nonhomologous Robertsonian translocation

Abstract

Carriers of nonhomologous Robertsonian translocations (ROB) are at risk for having offspring with uniparental disomy (UPD). Although risk estimates have been calculated in several independent studies, the estimates have not been optimal because most studies are not of sufficient size and UPD events are rare. However, these collective data have provided the opportunity to derive an overall risk estimate for UPD in the fetus after the prenatal identification of a ROB.