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The prenatal diagnosis of the 48,xxyy syndrome

A 48,XXYY fetus was diagnosed prenatally in a 34‐year old female who was seen at 18‐5 weeks of pregnancy for genetic counselling and amniocentesis for advanced maternal age. The pregnancy was terminated, and skin and peripheral blood samples were obtained at the time of delivery. These samples also exhibited the 48,XXYY chromosomal complement.