Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases

@article{Queipo2002MolecularAI,
  title={Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases},
  author={G. Queipo and J. Zenteno and Roc{\'i}o Pe{\~n}a and K. Nieto and Alejandro Radillo and L. Dorantes and L. Era{\~n}a and E. Lieberman and D. S{\"o}derlund and A. Jim{\'e}nez and G. Ram{\'o}n and S. Kofman‐Alfaro},
  journal={Human Genetics},
  year={2002},
  volume={111},
  pages={278-283}
}
Abstract. True hermaphroditism (TH) is an unusual form of sex reversal, characterized by the development of testicular and ovarian tissue in the same subject. Approximately 60% of the patients have a 46,XX karyotype, 33% are mosaics with a second cell line containing a Y chromosome, while the remaining 7% are 46,XY. Molecular analyses have demonstrated that SRY is present in only 10% of TH with a 46,XX karyotype; therefore, in the remaining 90%, mutations at unknown X-linked or autosomal sex… Expand
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