Approximately 90% of "XX males" are positive for . However, there are isolated cases of sex reversal associated to other genes in male-determining pathway. We describe a 1.3-old patient with 46,XX karyotype, male phenotypic gender and cryptorchidism. Microarray analysis revealed a 273 kb duplication in the Xq27.1 region that contains . FISH with probe specific to confirmed a unique genomic location of this duplication, dislocated proximal to the centromere of the X chromosome. This rare genetic condition was described in few other isolated cases that have associated genetic rearrangements and DSD. Microarray and genome-wide-sequencing presents important part in routine diagnostics, and in delineation of other sex-determination-pathway genes in sex reversal disorders.