title: Sperm meiotic segregation, aneuploidy and high risk of delivering an affected offspring in carriers of non-Robertsonian translocation t(13;15).
abstract: OBJECTIVE
  To determine the percentage of unbalanced spermatozoa and an interchromosomal effect in two carriers of balanced translocations t(13;15)(q32;q26) and t(13;15)(q32;p11.2).
  
  
  METHODS
  Sperm nuclei analysis by fluorescent in situ hybridization for detection of percentage of unbalanced spermatozoa and sperm with disomy of chromosomes X, Y, 8, 18, 21 and diploidy.
  
  
  RESULTS
  The incidence of unbalanced spermatozoa was 50.5 % and 44.6 % in patient 1 (P1) and patient 2 (P2), respectively. Partial disomy of chromosome 13 was detected in 13.4 % and 21.3 % of sperm in P1 and P2, respectively. The unbalanced karyotype der(15)t(13;15) was found previously in a son of P1 and in two adult relatives, and prenatally in the family of P2. This demonstrates a high risk of delivering an affected offspring. Significantly increased frequencies of chromosomes 8, 18, X and XY disomy and diploidy were observed in P2, which might either indicate an interchromosomal effect or be related to his asthenoteratozoospermia.
  
  
  CONCLUSIONS
  Since the proportions of unbalanced spermatozoa and the risk of delivering an affected offspring are high, prenatal or preimplantation genetic diagnosis is recommended for such patients.
authors.affiliation: Department of Medical Genetics, University Hospital Brno, 625 00, Brno, Czech Republic.
authors.forename: Katerina
authors.initials: K
authors.lastname: Kasikova
authors.forename: Miluse
authors.initials: M
authors.lastname: Vozdova
authors.forename: Petra
authors.initials: P
authors.lastname: Prinosilova
authors.forename: Renata
authors.initials: R
authors.lastname: Gaillyova
authors.forename: Marta
authors.initials: M
authors.lastname: Hanakova
authors.forename: Jiri
authors.initials: J
authors.lastname: Rubes
mesh_terms: D000328:Adult; D000782:Aneuploidy; D020090:Chromosome Segregation / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D059785:Karyotype; D008297:Male; D008540:Meiosis; D011296:Prenatal Diagnosis; D013094:Spermatozoa / Q000502:physiology*; D014178:Translocation, Genetic