Case report: Male phenotype with incomplete Y chromosome and X chromosome double dosage. (December 2017)

• Record Type: Journal Article
• Authors: Posada, Y.; Sánchez, M.E.; Granda, J.D.; Camargo, M.; Burgos, G.; Ibarra, A.
• Is Part Of: Forensic science international. Volume 6(2017)
• Page Start: e573
• Page End: e574
• Publication Date: 2017-12
• Subjects: X chromosome -- Y chromosome -- STR marker -- SRY gene -- Sex typing; Forensic genetics -- Periodicals; Forensic Genetics -- Periodicals; Electronic journals; 614.1
• DOI: 10.1016/j.fsigss.2017.09.225
• Languages: English
• ISSNs: 1875-1768

Abstract

Abstract: Molecular analysis performed to an apparently healthy Colombian 53-year-old- man showed absence of the amelogenin gene and only five Y-STR loci: DYS393, DYS456, DYS458, DYS481, DYS19; while other evaluated markers were absent. X-STRs analysis revealed heterozygote genotypes in almost all loci, suggesting the presence of a double dosage of X chromosome. This could be explained by two hypotheses: 1) the presence of 47, XXY condition, and deletion of Y-chromosome regions; or, 2) a translocation of Y regions to X chromosome.