DUPLICATION XP22.2 AND PSEUDOISODICENTRIC YQ DETECTED BY FISH AND PCRIN A STERILE MALE

A chromosome mosaicism with two cell lines was diagnosed in a sterile man. One cell line had a 45,-Y, dup (X) (p22.2) karyotype and accounte d for 83% of lymphocytes analyzed. Fluorescence in situ hybridization (FISH) analysis with specific X and Y probes excluded a translocation between the short arms of the X and Y chromosomes and showed that Xp d uplication involved a region containing the DXS85 locus, distal to the ZFX and DSS sites. The other cell line consisted of a diploid karyoty pe with a rearranged Y chromosome, which was shown to be a pseudoisodi centric Yq by FISH. Moreover, FISH with a specific probe for the AZF l ocus and polymerase chain reaction using Yq SY108 and SY121 primers sh owed no signals for this region, possibly accounting for the azoosperm ia in this patient.