title: Balanced chromosomal translocations in men: relationships among semen parameters, chromatin integrity, sperm meiotic segregation and aneuploidy.
abstract: OBJECTIVE
  To analyse relationships between semen parameters, sperm chromatin integrity and frequencies of chromosomally unbalanced, disomic and diploid sperm in 13 Robertsonian and 37 reciprocal translocation carriers and to compare the results with data from 10 control donors.
  
  
  METHODS
  Conventional semen analysis, Sperm Chromatin Structure Assay and FISH with probes for chromosomes involved in the individual translocations and for chromosomes X, Y, 7, 8, 13, 18 and 21.
  
  
  RESULTS
  Normal semen parameters were found in 30.8 % of Robertsonian and 59.5 % of reciprocal translocation carriers. The rates of unbalanced sperm were 12.0 % in Robertsonian and 55.1 % in reciprocal translocation carriers with no difference between normospermic patients and those showing altered semen parameters. Significantly increased frequencies of spermatozoa showing defects in chromatin integrity and condensation, aneuploidy for chromosomes not involved in a translocation and diploidy were detected in translocation carriers with abnormal semen parameters. Normospermic reciprocal translocation carriers showed an increase in chromosome 13 disomy compared to the control group. There was no relationship between gametic and somatic aneuploidy in 12 translocation carriers studied by FISH on sperm and lymphocytes. The frequency of motile sperm was negatively correlated with the frequency of sperm showing disomy, diploidy and defective chromatin condensation.
  
  
  CONCLUSIONS
  Abnormal semen parameters can serve as indicators of an additional risk of forming spermatozoa with defective chromatin and aneuploidy in translocation carriers.
authors: Department of Genetics and Reproduction, Veterinary Research Institute, Hudcova 70, Brno, Czech Republic. vozdova@vri.cz
authors: Miluse
authors: M
authors: Vozdova
authors: Eva
authors: E
authors: Oracova
authors: Katerina
authors: K
authors: Kasikova
authors: Petra
authors: P
authors: Prinosilova
authors: Roman
authors: R
authors: Rybar
authors: Vera
authors: V
authors: Horinova
authors: Renata
authors: R
authors: Gaillyova
authors: Jiri
authors: J
authors: Rubes
mesh_terms: D000328:Adult; D000782:Aneuploidy; D002843:Chromatin / Q000235:genetics; D020090:Chromosome Segregation; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D012661:Semen / Q000166:cytology*; D055101:Semen Analysis; D013094:Spermatozoa / Q000166:cytology*; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D002843:Chromatin