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

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.

• Authors: F Ashton, R O'Connor, J M Love, E Doherty, S Aftimos, A George, D R Love
• Journal: Genetics and molecular research : GMR (Genet Mol Res) Vol. 9 Issue 3 Pg. 1815-23 (Sep 14 2010) ISSN: 1676-5680 [Electronic] Brazil
• PMID: 20845307 (Publication Type: Case Reports, Journal Article)

Topics

• Child, Preschool
• Chromosomes, Human, X (genetics)
• Chromosomes, Human, Y (genetics)
• Disorders of Sex Development
• Female
• Humans
• Karyotyping