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Hum. Reprod. Advance Access published online on October 28, 2004
Human Reproduction, doi:10.1093/humrep/deh506
© 2004 by European Society of Human Reproduction and Embryology
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Received May 4, 2004
Accepted August 11, 2004

Article

A constitutional complex chromosome rearrangement involving meiotic arrest in an azoospermic male: Case report

R. Coco 1, M.I. Rahn 2, P. García Estanga 1, G. Antonioli 1, and A.J. Solari 2*

1 FECUNDITAS, Instituto de Medicina Reproductiva, Larrea 790, Buenos Aires, Argentina
2 Centro de Investigaciones en Reproducción (CIR), Facultad de Medicina, Paraguay 2155, Buenos Aires (1121), Argentina

* To whom correspondence should be addressed.
A.J. Solari, E-mail: asolari{at}fmed.uba.ar


  Abstract

Complex chromosome rearrangements are rare aberrations that frequently lead to reproductive failure and that may hinder assisted reproduction. A 25-year-old azoospermic male was studied cytogenetically with synaptonemal complex analysis of spermatocytes from a testicular biopsy and fluorescence in situ hybridization (FISH) of lymphocytes. The spermatocytes showed a pentavalent plus a univalent chromosome. Cell death occurred mainly at advanced pachytene stages. The sex chromosomes were involved in the multiple, as shown by their typical axial excrescences. Two autosomal pairs, including an acrocentric chromosome (15), were also involved in the multiple. FISH allowed the definite identification of all the involved chromosomes. An inverted chromosome 12 is translocated with most of one long arm of chromosome 15, while the centromeric piece of this chromosome 15 is translocated with Yqh, forming a small marker chromosome t(15;Y). The euchromatic part of the Y chromosome is joined to the remaining piece of chromosome 12, forming a neo-Y chromosome. The patient shows azoospermia and a normal phenotype. The disruption of spermatogenesis is hypothetically due to the extent of asynaptic segments and to sex-body association during pachytene. This CCR occurred ‘de novo’ during paternal spermatogenesis. Meiotic analysis and FISH are valuable diagnostic tools in these cases.

Keywords: azoospermia; complex chromosome rearrangement; FISH; human meiosis; synaptonemal complex.
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