Balanced X; 22 translocation in a patient with premature ovarian failure

A case of balanced X; autosome translocation 46, X, t (X; 22) (q 24; q 13) in a 25-year-old female with secondary amenorrhea and premature ovarian failure (POF) is described. The relationship between balanced X; autosome translocation [t (X; A)] and varied phenotypic expression observed in these women is discussed. This case highlights the importance of early recognition of these women in order to give them the best chance of conception in their oligohypomenorrhic phase before complete loss of gonadal function.