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A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY.
- Source :
- Human Genetics; 1992, Vol. 90 Issue 1/2, p121-125, 5p
- Publication Year :
- 1992
-
Abstract
- A total of 30 cases of 46,XX true hermaphroditism was analysed for Y-DNA sequences including the recently cloned gene for male testis-determination SRY. In 3 cases, a portion of the Y chromosome including SRY was present and, in 2 cases, was localised, to Xp22 by in situ hybridisation. Since previous studies have shown that the majority of XX males are generated by an X-Y chromosomal interchange, the Xp22 position of the Yp material suggests that certain cases of hermaphroditism can arise by the same meiotic event. The phenotype in the 3 SRY-positive cases may be caused by X-inactivation resulting in somatic mosaicism of testis-determining factor expression giving rise to both testicular and ovarian tissues. Autosomal or X-linked mutation(s) elsewhere in the sex-determining pathway may explain the phenotype observed in the remaining 27 SRY-negative cases. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 03406717
- Volume :
- 90
- Issue :
- 1/2
- Database :
- Complementary Index
- Journal :
- Human Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 72591805
- Full Text :
- https://doi.org/10.1007/BF00210754