PURPOSE: To evaluate hypotheses which explain phenotypic variability in sex determining region Y positive 46,XX males. We investigate two 46,XX males without gonadal ambiguities. METHODS: Cytogenetic and molecular analyses were used to identify the presence of Y chromosome material and to map the translocation breakpoint. Finally, the pattern of X chromosome inactivation was studied using the methylation assay at the androgen receptor locus. RESULTS: The presence of Y chromosome material, including the sex determining region Y gene, was demonstrated in both men. However, the amount of translocated Y chromosome material differed between the patients. Different X chromosome inactivation patterns were found in the patients; random in one patient and non-random in the other. CONCLUSIONS: We found a lack of association between phenotype and X chromosome inactivation pattern. Our cytogenetic and molecular analyses show support for the position effect hypothesis explaining the phenotypic variability in XX males.
PURPOSE: To evaluate hypotheses which explain phenotypic variability in sex determining region Y positive 46,XX males. We investigate two 46,XX males without gonadal ambiguities. METHODS: Cytogenetic and molecular analyses were used to identify the presence of Y chromosome material and to map the translocation breakpoint. Finally, the pattern of X chromosome inactivation was studied using the methylation assay at the androgen receptor locus. RESULTS: The presence of Y chromosome material, including the sex determining region Y gene, was demonstrated in both men. However, the amount of translocated Y chromosome material differed between the patients. Different X chromosome inactivation patterns were found in the patients; random in one patient and non-random in the other. CONCLUSIONS: We found a lack of association between phenotype and X chromosome inactivation pattern. Our cytogenetic and molecular analyses show support for the position effect hypothesis explaining the phenotypic variability in XX males.
Authors: K Kusz; M Kotecki; A Wojda; M Szarras-Czapnik; A Latos-Bielenska; A Warenik-Szymankiewicz; A Ruszczynska-Wolska; J Jaruzelska Journal: J Med Genet Date: 1999-06 Impact factor: 6.318
Authors: Ahmad Majzoub; Mohamed Arafa; Christopher Starks; Haitham Elbardisi; Sami Al Said; Edmund Sabanegh Journal: Asian J Androl Date: 2017 Mar-Apr Impact factor: 3.285