title: Detection of t(X;Y) in 2 XX males using fluorescent in situ hybridization.
abstract: Males with a 46,XX karyotype generally have Y chromosomal material translocated to the pseudoautosomal region of the X chromosome. We have delineated two such cases using two color fluorescent in situ hybridization with probes from the short arm (DYZ2), centromere (DYZ3), and long arm (DYZ1) of the Y chromosome and a centromeric probes for the X chromosome (DXZ1). Using these techniques, the two patients are identified as having the karyotype 46,X,der(X)t(X;Y) (p22;p11) and a phenotype consistant with this translocation. Azoospermia in these patients is explained by the absence of Y long arm material including the recently identified candidate gene family for spermatogenesis.
mesh_terms: D000328:Adult; D004276:DNA, Satellite / Q000032:analysis; D012734:Disorders of Sex Development / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009845:Oligospermia / Q000235:genetics; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013091:Spermatogenesis / Q000235:genetics; D014178:Translocation, Genetic; D014960:X Chromosome / Q000648:ultrastructure*; D014998:Y Chromosome
chemical_list: D004276:DNA, Satellite