FISH characterization of a dicentric Yq (p11.32) isochromosome in an azoospermic male

M. Codina-Pascual, M. Oliver-Bonet, J. Navarro, H. Starke, T. Liehr, C. Gutiérrez-Mateo, J. F. Sánchez-García, O. Arango, J. Egozcue, J. Benet

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23 Citations (Scopus)


The most common structural rearrangements of the Y chromosome result in the production of dicentrics. In this work, we analyze an abnormal Y chromosome, detected as a mosaic in an azoospermic male ascertained for infertility. FISH with seven different DNA probes specific for Y chromosome sequences (Y α-satellite, α-satellite III, non-α-satellite centromeric Y, SRY gene, subtelomeric Yp, subtelomeric Yq, and PNA-tel) and CGH analysis were performed. FISH results showed that the abnormal Y chromosome was a dicentric Yq isochromosome and that the breakpoint was distally in band Yp11.32. Lymphocyte chromosomes showed a mosaicism with 46,X,idicY(qter→ p11.32::p11.32→qter) (51.7%), 46,XY (45.6%), and other cell lines (2.7%). In oral interphase cells, the mosaicism was 46,XidicY (62.8%), 46,XY (25.7%), 45,X (6.6%), and others (4.9%). The possible origin of this dicentric Yq isochromosome is discussed. Finally, we compare differences in mosaicism and phenotype among three reported cases with the breakpoint at Yp11.32. © 2004 Wiley-Liss, Inc.
Original languageEnglish
Pages (from-to)302-306
JournalAmerican Journal of Medical Genetics
Publication statusPublished - 1 Jan 2004


  • Azoospermia
  • Dicentric Y isochromosome
  • FISH
  • Mosaicism


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