Duplication Xp22.2 and pseudoisodicentric Yq detected by FISH and PCR in a sterile male

G. Palka, G. Calabrese, R. Mingarelli, P. Guanciali Franchi, L. Stuppia, E. Morizio, R. Peila, A. Antonucci

Research output: Contribution to journalArticlepeer-review


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 accounted 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 duplication involved a region containing the DXS85 locus, distal to the ZFX and DSS sites. The other cell line consisted of a diploid karyotype with a rearranged Y chromosome, which was shown to be a pseudoisodicentric Yq by FISH. Moreover, FISH with a specific probe for the AZF locus and polymerase chain reaction using Yq SY108 and SY121 primers showed no signals for this region, possibly accounting for the azoospermia in this patient.

Original languageEnglish
Pages (from-to)213-216
Number of pages4
JournalClinical Genetics
Issue number4
Publication statusPublished - 1995


  • Fluorescence in situ hybridization
  • Polymerase chain reaction
  • X and Y chromosomes duplication

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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