Dicentric Y-chromosome mosaicism in a girl with clitoral hypertrophy.
A 12-year-old girl with small stature and a hypertrophic clitoris was found to be mosaic for 45,X/46,X.dic(Y)(qtertop11:p11toqter)/46,XX/47,XX,dic(Y)(qtertop11:p11toqter). The dicentric chromosome was identified using Q-banding. These findings indicate mitotic instability of the dicentric Y, as well as the presence of an X chromosome in this patient.
D001827:Body Height; D002648:Child; D002871:Chromosome Banding; D002987:Clitoris / Q000473:pathology*; D005260:Female; D006801:Humans; D006984:Hypertrophy; D008297:Male; D009030:Mosaicism; D012730:Sex Chromosomes; D014998:Y Chromosome