Sex chromosome pentasomy (49,XXXXY) presenting as cystic hygroma at 16 weeks' gestation

The pentasomy 49,XXXXY is one of the rarest sex chromosome defects, occurring with an estimated incidence of 1 in 85 000 male births. This condition is associated with pre- and postnatal growth deficiency, severe mental retardation, hypogenitalism, and other skeletal, facial and cardio-vascular anomalies. In this report we present such a case diagnosed prenatally by chorionic villus sampling after the ultrasound detection of cystic hygroma at 16 weeks' gestation. Although the prenatal diagnosis of cystic hygroma and its association with aneuploidy has been documented in numerous reports, sex chromosome aneuploidy, other than the 45,X karyotype, accounts for only 0.3 per cent of cases.