Many investigators suggested co-amplification of SRY gene along with amelogenin for unambiguous gender identification.[11, 13–15] Turner syndrome (46,X0), Klinefelter syndrome (46,XXY), androgen insensitivity syndrome, and 47,XYY syndrome may show a discrepancy between the genotype and the phenotype of a person.[16] Dauwerse et al.[17] reported a case of an infertile male with normal development of male genitalia having 46,XX karyotype, but SRY gene was identified to be inserted onto the terminal end of chromosome 16. The gene discussed is SRY; the disease is Down syndrome.