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.
D000328:Adult; D002871:Chromosome Banding; D002877:Chromosomes, Human / Q000648:ultrastructure; D004407:Dysgerminoma / Q000235:genetics*; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006182:H-Y Antigen / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D012730:Sex Chromosomes / Q000648:ultrastructure*; D013736:Testicular Neoplasms / Q000235:genetics*; D014998:Y Chromosome / Q000648:ultrastructure*
D006182:H-Y Antigen