X-Y translocations and sex differentiation.
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.
McElreavey
K
K
Institut Pasteur, Immunogénétique Humaine, INSERM E0021, Paris, France.
Cortes
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LS
D002874:Chromosome Mapping; D012734:Disorders of Sex Development; D005260:Female; D006801:Humans; D008297:Male; D010641:Phenotype; D025064:Sex Chromosome Disorders / Q000235:genetics; D019849:Sex Determination Processes; D014178:Translocation, Genetic / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*; D014998:Y Chromosome / Q000235:genetics*