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Hum. Reprod. Advance Access published online on January 21, 2005
Human Reproduction, doi:10.1093/humrep/deh653
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Human Reproduction © European Society of Human Reproduction and Embryology 2005; all rights reserved
Received May 20, 2004
Revised July 9, 2004
Accepted November 10, 2004

Article

Unique t(Y;1)(q12;q12) reciprocal translocation with loss of the heterochromatic region of chromosome 1 in a male with azoospermia due to meiotic arrest: a case report

Maria João Pinho 1, Rui Neves 1, Paula Costa 1, Cristina Ferrás 1, Mário Sousa 2*, Cláudia Alves 1, Carolina Almeida 1, Susana Fernandes 1, Joaquina Silva 3, Luís Ferrás 3, and Alberto Barros 4

1 Department of Genetics, Faculty of Medicine, ICBAS, University of Porto, Portugal
2 Department of Genetics, Faculty of Medicine, ICBAS, University of Porto, Portugal; Centre for Reproductive Genetics A.Barros, ICBAS, University of Porto, Portugal; Laboratory of Cell Biology, ICBAS, University of Porto, Portugal
3 Centre for Reproductive Genetics A.Barros, ICBAS, University of Porto, Portugal
4 Department of Genetics, Faculty of Medicine, ICBAS, University of Porto, Portugal; Centre for Reproductive Genetics A.Barros, ICBAS, University of Porto, Portugal

* To whom correspondence should be addressed.
Mário Sousa, E-mail: msousa{at}icbas.up.pt


  Abstract

A de novo reciprocal translocation 46,X,t(Y;1)(q12;q12) was found in an azoospermic male with meiotic arrest. Cytogenetics and fluorescent in situ hybridization (FISH) were used to define the karyotype, translocation breakpoints and homologue pairing. SRY (Yp), Yq11.2-AZF regions, DAZ gene copies and the distal Yq12 heterochromatin were studied by PCR and restriction analysis using sequence-tagged sites and single nucleotide variants. High resolution GTL, CBL and DA-DAPI staining revealed a (Y;1) translocation in all metaphases and a normal karyotype in the patient's father. FISH showed the presence of the distal Yq12 heterochromatic region in der(1) and loss of the heterochromatic region of chromosome 1. PCR demonstrated the intactness of the Y chromosome, including the SRY locus, AZF regions, DAZ genes and distal heterochromatin. A significant decrease (P=0.005) of Xp/Yp pairing (18.6%), as compared with controls (65.7%), was found in arrested primary spermatocytes, and cell culture and mRNA expression studies confirmed an irreversible arrest at meiosis I, with induction of apoptosis and removal of germ cells by Sertoli cells. We characterized a de novo t(Y;1)(q12;q12) balanced reciprocal translocation with loss of the heterochromatic region of chromosome 1, that caused unpairing of sex chromosomes followed by meiosis I arrest, apoptotic degeneration of germ cells and azoospermia.

Keywords: apoptosis; AZF; DAZ; meiosis I arrest; t(Y;1)(q12;q12) de novo balanced reciprocal translocation; Y chromosome.
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