July 22nd, 2014

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Title:
Breakpoint of a Y Chromosome Pericentric Inversion in the DAZ Gene Area: A Case Report
Authors:  Franco Causio, M.D., Domenico Canale, M.D., Luca Maria Schonauer, M.D., Rita Fischetto, M.D., Teresa Leonetti, M.D., and Nicoletta Archidiacono, Ph.D.
 
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).

CASE: 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.

CONCLUSION: 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. (J Reprod Med 2000;45:591-594)
Keywords:  oligozoospermia; infertility, male; Y chromosome
   
   
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