title: Chromosomal defects in infertile men with poor semen quality.
abstract: OBJECTIVE
  To assess the incidence and the type of chromosomal aberrations in males with infertility we reviewed cytogenetic results in 76 Tunisian infertile men (54 nonobstructive azoospermia and 22 oligo-asthenospermia).
  
  
  METHODS
  Karyotyping was performed on peripheral blood lymphocytes according to the standard methods. Molecular diagnosis of classical and partial Y-chromosomal microdeletions was performed by amplifying Y-specific STSs markers.
  
  
  RESULTS
  Various numerical and structural chromosome abnormalities were identified in 15 patients (19.48%). The occurrence of chromosomal abnormality in the azoospermics and severe oligo-asthnospermic was 21.7% and 13.5%, respectively. The most common was Klinefelter syndrome, accounting for 10 of the 15 cytogenetic defects. The total frequency of Y chromosomal microdeletions was 17.1%, with respective frequencies in azoospermic and severe oligospermic groups, 11.1% and 31.8%. The most frequent of Y chromosomal deletions were the partial ones (11.1% in azoospermic and 27.2% in oligospermic).
  
  
  CONCLUSIONS
  The occurrence of chromosomal abnormalities among infertile males strongly suggests the need for routine genetic testing and counseling prior to the employment of assisted reproduction techniques.
authors.affiliation: Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia. myriamgh29@gmail.com
authors.forename: Myriam
authors.initials: M
authors.lastname: Ghorbel
authors.forename: Siwar
authors.initials: S
authors.lastname: Gargouri Baklouti
authors.forename: Fatma
authors.initials: F
authors.lastname: Ben Abdallah
authors.forename: Nacira
authors.initials: N
authors.lastname: Zribi
authors.forename: Mariem
authors.initials: M
authors.lastname: Cherif
authors.forename: Rim
authors.initials: R
authors.lastname: Keskes
authors.forename: Nozha
authors.initials: N
authors.lastname: Chakroun
authors.forename: Afifa
authors.initials: A
authors.lastname: Sellami
authors.forename: Neila
authors.initials: N
authors.lastname: Belguith
authors.forename: Hassen
authors.initials: H
authors.lastname: Kamoun
authors.forename: Faiza
authors.initials: F
authors.lastname: Fakhfakh
authors.forename: Leila
authors.initials: L
authors.lastname: Ammar-Keskes
mesh_terms: D053713:Azoospermia / Q000235:genetics; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics; D003582:Cytogenetics / Q000379:methods; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D007621:Karyotyping / Q000379:methods; D007713:Klinefelter Syndrome / Q000235:genetics; D008297:Male; D009845:Oligospermia / Q000235:genetics; D012189:Retrospective Studies; D012661:Semen / Q000502:physiology*; D055101:Semen Analysis; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000235:genetics