Prenatal diagnosis of mosaicism for partial trisomy 8: a case report including fetal pathology

Abstract

A case of prenatally diagnosed partial trisomy 8 is described. The 'syndrome' is associated with skeletal and cardiac anomalies, as well as hepatic calcification. Differing proportions of 47,XY, +der(8) and 46 XY were present in the different fetal tissues sampled. The highest proportion of 47,XY,+der(8) cells was found in the placenta.