Translocations involving the X and Y chromosomes are often associated with anomalies of gonadal development. Transfer of Yp sequences, including the testis-determining SRY gene, to the terminal portion of the short arm of the X chromosome is associated with 46,XX maleness and in rare cases 46,XX true hermaphroditism. Three classes of XX males have been defined on the basis of the extent of Y material transferred to the X chromosome. In one class, the transfer of material involves aberrant recombination between two highly homologous genes, PKRX and PKRY, and there is evidence to suggest that this interchange is influenced by the Y chromosome background. Other types of X-Y translocations associated with anomalies of sex differentiation include Xp-Yq translocations, which result in a functional disomy of Xp sequences including the DSS locus and are associated with 46,XY complete or partial gonadal dysgenesis. In rare cases Yp-Xq translocations have been described in association with 46,XX maleness.
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Article Synopsis
- The 46,XX testicular disorder/difference of sex development (DSD) is a rare condition where individuals typically have female chromosomes (46,XX) but display male characteristics, often due to the translocation of a Y chromosome segment to the X chromosome.
- Researchers conducted extensive genetic analysis on blood samples from individuals with 46,XX DSD and controls to explore the genetic variations and their effects on phenotype.
- The study revealed distinct categories of translocated Y chromosome segments and identified transcriptional changes linked to phenotypic traits like height and testicular size, enhancing the understanding of the genetic factors involved in 46,XX DSD.
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