Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?

Abstract

The presence of trisomy/UPD/BPD mosaicism in 3/10 cases that we investigated proves that trisomic zygote rescue may involve multiple rescue events during early embryogenesis. UPD mosaicism, when present in crucial fetal tissues, may explain the abnormal phenotype in undiagnosed cases.