Turner syndrome with pseudodicentric Y chromosome mosaicism

The objective was to compare the impact of gonadal cell line upon the phenotype of a Turner syndrome patient with mosaic karyotypes. A 10-year-old female presented with typical Turner syndrome. Chromosomal analysis of lymphocytes revealed 45,X (16%)/46,X,pseudodicentric Y (p ter-->q12::q12-->p ter) (84%). Karyotype of the gonads revealed 45,X (85%)/46,X,pseudodicentric Y (p ter-->q12::q12-->p ter) (15%). Discrepancy of the individual cell lines between the lymphocytes and the tissue might exist. The phenotype of patients with mosaicism is related with the individual proportions of gonadal cell lines.