Duplication Xp

Molecular characterisation of a der(Y)t(Xp;Yp) with Xp functional disomy and sex reversal

F. Ashton, O’Connor, R., Love, J. M., Doherty, E., Aftimos, S., George, A., and Love, D. R., Molecular characterisation of a der(Y)t(Xp;Yp) with Xp functional disomy and sex reversal, vol. 9. pp. 1815-1823, 2010.

Sex reversal due to duplication of the Xp21 dosage-sensitive sex reversal locus results in XY females with gonadal dysgenesis. Pure Xp disomy (without a concurrent loss of genetic material) can occur by translocation or interstitial duplication. The case reported here is the rare form with a t(Xp;Yp). The combination of conventional clinical cytogenetic techniques, microsatellite analysis and high-density microarrays identified the X-chromosome breakpoint as centromeric of the NR0B1 gene and its control elements.

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