45,X/46,X,dic(Yq) mosaicism and mixed gonadal dysgenesis. Case report and review of the literature.
A 4 year 7 month-old boy with ambiguous genitalia, histological evidence of mixed gonadal dysgenesis, and 45,X/46,X,dic(Yq) mosaicism is reported. The identity of the dicentric Y chromosome was stablished by its typical fluorescent banding patterns and the presence of two centromeres demonstrated by C-band technique. A review of the literature yielded nine additional cases of mosaic 45,X/46,X,dic(Yq). Phenotypical and histological findings among these cases were compared, and the possible localization of the genes responsible for testicle induction and maturation is discussed.
D002675:Child, Preschool; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D012728:Sex Chromatin; D012730:Sex Chromosomes; D014424:Turner Syndrome / Q000175:diagnosis*; D014960:X Chromosome