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Updated: Aug 9, 2026

Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
Clinical, cytogenetic and molecular analysis of three 46,XX males
E Plöchl1, I Vlasak, O Rittinger
1Clinical Genetics, Children's Hospital, Salzburg, Austria.
Abstract:
Cytogenetic analysis, fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR) were applied to characterize the Y-chromosomal breakpoints of three XX male patients. Two of these patients show a breakpoint within a protein kinase gene, PRKY, previously described as a hotspot of ectopic recombination between homologous regions on X and Y chromosomes during male meiosis. The slightly different clinical phenotypes of the three patients cannot be correlated with the localization of the breakpoints.
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