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