Post-mortem findings in a fetus with 48,XXY,+21.

A fetus with 48,XXY,+21 was detected on routine amniocentesis at 15 weeks for advanced maternal age. Fibroblast cultures from six different tissues were initiated after termination and each showed the same karyotype without any tissue limited mosaicism. The only phenotypic abnormality detected at post-mortem examination was bilateral clinodactyly of the fifth finger which had been detected on ultrasound. The maternal serum alpha-fetoprotein and the femur length were normal. Maternal age remains an essential criterion for prenatal diagnosis.