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

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Abstract
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.3– 5 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.6– 8 While the size of the translocated Yp fragment in XX males is variable,9 a recombination hotspot defined by the X/Y homologous genes PRKX and PRKY accounts for approximately one third of cases.10, 11 A common inversion polymorphism in proximal Yp flanks this recombination hotspot.12– 14

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