Breakpoint of a Y chromosome pericentric inversion in the DAZ gene area. A case report.
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.
Causio
F
F
Department of Gynecology and Obstetrics, University of Bari, Italy.
Canale
D
D
Schonauer
L M
LM
Fischetto
R
R
Leonetti
T
T
Archidiacono
N
N
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*
C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D016601:RNA-Binding Proteins