Prenatal diagnosis of 48,XYY, +21 ascertained through ultrasound anomalies.

During a routine ultrasound study on a fetus at 21 weeks, nuchal edema was noted. At 21 weeks, repeat ultrasound study at our unit showed scalp and neck edema and a femur length/biparietal diameter ratio below the mean. Transabdominal chorionic villus sampling identified a 48.XYY, +21 chromosome constitution. The fetus had normal internal/external genitalia and signs of Down syndrome.