However, there are isolated cases of sex reversal associated to other genes in male-determining pathway. We describe a 1. Microarray analysis revealed a de novo kb duplication in the Xq FISH with probe specific to SOX3 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 SOX3 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.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission. Informed consent: Informed consent was obtained from all individuals included in this study. Sutton, E, Hughes, J, White, S, Sekido, R, Tan, J, Arboleda, V, et al.. Identification of SOX3 as an XX male sex reversal gene in mice and humans.
J Clin Invest ;β Suche in Google Scholar. Moalem, S, Babul-Hirji, R, Stavropolous, DJ, Wherrett, D, BΓ€gli, DJ, Thomas, P, et al.. XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication. Am J Med Genet ;β Grinspon, RP, Nevado, J, Alvarez, MDLAM, Rey, GD, Castera, R, Venara, M, et al.. Clin Endocrinol ;β5. Zhuang, J, Chen, C, Li, J, Jiang, Y, Wang, J, Wang, Y, et al.. The 46, XX ovotesticular disorder of sex development with Xq Front Pediatr ; Mizuno, K, Kojima, Y, Kamisawa, H, Moritoki, Y, Nishio, H, Nakane, A, et al..
Elucidation of distinctive genomic DNA structures in patients with 46,XX testicular disorders of sex development using genome wide analyses.
