F. Ashton, R. O Connor, J.M. Love, E. Doherty, S. Aftimos, A. George and D.R. Love
Published September 14, 2010
Genet. Mol. Res. 9 (3): 1815-1823 (2010)
DOI 10.4238/vol9-3gmr896
About the Authors
F. Ashton, R. O Connor, J.M. Love, E. Doherty, S. Aftimos, A. George and D.R. Love
Corresponding author:
D.R. Love
E-mail: donaldl@adhb.govt.nz
ABSTRACT
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. Cytogenetics and array technology complemented each other in characterizing the translocation event and the extent of the dosage-sensitive sex reversal critical region on the derivative Y-chromosome. The implications of this analysis also lie in genetic counseling that highlight the likely de novo nature of a paternal meiotic event.
Key words: Xp functional disomy; Duplication Xp; Sex reversal; Translocation X;Y; Microarray