Detection at amniocentesis of a maternally inherited X;Y translocation.

G banded chromosomal analysis of cells from a routine amniocentesis revealed a Y to X translocation in the fetus. The same unbalanced translocation was found in the mother who was disproportionately short. H-Y antigen titers in the mother were intermediate and steroid sulfatase activity was in the normal female range. At birth the baby exhibited few dysmorphic features but appeared to have short limbs.