Variability of sexual phenotype in 46,XX(SRY+) patients: the influence of spreading X inactivation versus position effects

Sharp, A., Kusz, K., Jaruzelska, J., Tapper, W., Szarras-Czapnik, M., Wolski, J. and Jacobs, P. (2005) Variability of sexual phenotype in 46,XX(SRY+) patients: the influence of spreading X inactivation versus position effects. Journal of Medical Genetics, 42 (5), 420-427. (doi:10.1136/jmg.2004.022053).

Abstract

During male meiosis the X and Y chromosomes pair along much of their length, with a single obligatory recombination event usually occurring in the pseudo-autosomal region (PAR) at the tip of Xp and Yp, thus maintaining identity of the sex chromosome PARs.
Occasionally illegitimate crossover occurs outside the PAR, resulting in the transfer of Y specific sequences onto the X chromosome. Such translocations between distal Xp and Yp occur relatively frequently, resulting in the generation of 46,XX individuals, the majority of whom display an overtly male phenotype due to transfer of the SRY gene onto the short arm of the paternal X. However, a small number of Yp translocations are associated with hermaphroditism, defined as the presence of both testicular and ovarian tissue in the same individual.

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Contributors

Author: W. Tapper

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