title: Breakpoint of a Y chromosome pericentric inversion in the DAZ gene area. A case report.
abstract: BACKGROUND
  The presence of a spermatogenesis locus (gene or gene complex) in the euchromatic region of the long arm of the Y chromosome (Yq11), defined as azoospermia factor on the basis of gross structural rearrangement, was detected. The gene family responsible for different spermatogenetic defects is "deleted in azoospermia" (DAZ).
  
  
  METHODS
  A 34-year-old man had oligozoospermia, and a cytogenetic analysis carried out on peripheral lymphocytes with G banding revealed a 46,X, inv(Y)(p11q11)karyotype. The relation between the chromosomal breakpoint and the DAZ gene was more precisely defined by a fluorescent in situ hybridization technique. We revealed two signals for the DAZ gene, weaker than normal, one on the short arm and the other on the long arm of the Y chromosome, indicating that the breakpoint was located at the DAZ gene level.
  
  
  CONCLUSIONS
  This is the first report documenting a chromosomal pericentric inversion with disruption in the DAZ gene area. We hope to obtain information on whether the disruption affects a functional zone of the gene and correlates with oligospermia at the chromosomal level.
authors.affiliation: Department of Gynecology and Obstetrics, University of Bari, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Causio
authors.forename: D
authors.initials: D
authors.lastname: Canale
authors.forename: L M
authors.initials: LM
authors.lastname: Schonauer
authors.forename: R
authors.initials: R
authors.lastname: Fischetto
authors.forename: T
authors.initials: T
authors.lastname: Leonetti
authors.forename: N
authors.initials: N
authors.lastname: Archidiacono
mesh_terms: D000328:Adult; D018385:Centrosome / Q000648:ultrastructure; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D000075364:Deleted in Azoospermia 1 Protein; D006801:Humans; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics*; D014998:Y Chromosome / Q000235:genetics*
chemical_list: C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D016601:RNA-Binding Proteins