Dicentric Y chromosome in a patient with gonadal dysgenesis and seminoma

A male patient with ambiguous external genitalia developed a seminoma in the left inguinal region; his internal genitalia included a streak gonad on the right and a small uterus. Cytogenetic studies demonstrated a dicentric Y chromosome with unstable behavior during cell division, which resulted in 45,X/46,X,dic(Y)/47,X,dic(Y),dic(Y) mosaicism. Immunogenetic studies allowed the identification of the male-determining H-Y antigen on both leukocytes and red cells of the patient. The significance of these results is discussed with respect to recent data on the genetic control of H-Y antigen.