Molecular characterisation of a der(Y)t(Xp;Yp) with Xp functional disomy and sex reversal.
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.
Ashton
F
F
Diagnostic Genetics, Lab Plus, Auckland City Hospital, School of Biological Sciences, University of Auckland, Auckland, New Zealand.
O'Connor
R
R
Love
J M
JM
Doherty
E
E
Aftimos
S
S
George
A
A
Love
D R
DR
D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D012734:Disorders of Sex Development; D005260:Female; D006801:Humans; D007621:Karyotyping