A case of Turner's syndrome with familial balanced translocation t(1;2)(q32;q21)mat.

The first case of Turner's syndrome with the familial translocation not involving the X chromosome is described. The patient had a number of clinical signs of Turner's syndrome and her karyotype was 45,X,t(1;2)(q32;q2)mat. Though it is speculated that the altered structure of a chromosome may influence meiotic disjunction of a non-homologous chromosome, our case suggests that there may be no relationship between the two chromosomal abnormalities.