Dicentric Y chromosome and mixed dysgenesis.
We report 4 cases of mixed gonadal dysgenesis with a karyotype containing a dicentric Y chromosome. All cases were mosaic with 45X and 46X, dic(Y) cell lines. Of the patients 1 had ambiguous genitalia and some features of Turner's syndrome, 2 had classical features of Turner's syndrome with normal female external genitalia and 1 had no features of Turner's syndrome but he presented with penoscrotal hypospadias, inguinal hernia and cryptorchidism. Female gender assignment and early total gonadectomy should be considered when a dicentric Y chromosome is present in cases of mixed gonadal dysgenesis.
D002675:Child, Preschool; D003456:Cryptorchidism / Q000235:genetics; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics*; D006552:Hernia, Inguinal / Q000235:genetics; D006801:Humans; D007021:Hypospadias / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics; D012732:Sex Determination Analysis; D014424:Turner Syndrome / Q000235:genetics; D014998:Y Chromosome / Q000648:ultrastructure*