title: Chromosomal segregation in spermatozoa of five Robertsonian translocation carriers t(13;14).
abstract: OBJECTIVE
  To analyse the segregation of a Robertsonian translocation t(13;14) in five male carriers, and to verify a possible inter-chromosomal effect (ICE) of the Robertsonian translocation on chromosomes 18, X, and Y.
  
  
  METHODS
  The spermatozoa of these patients (n = 5) and of 15 donors with normal semen parameters and 46,XY karyotype were analysed using triple colour FISH with locus specific probes for chromosomes 13, 14, and 21 and by triple colour FISH for chromosomes X, Y, and 18.
  
  
  RESULTS
  The frequency of balanced spermatozoa resulting from alternate segregation varied between 62.16% and 81.70% with a mean of 71.5%. The rates of unbalanced spermatozoa resulting from adjacent segregation varied between 13.4% and 25.1% with a mean of 18.26%. Triple colour FISH X-Y-18 showed a significant increase in disomy frequencies of these chromosomes in comparison with controls, indicating an ICE.
  
  
  CONCLUSIONS
  In spite of the high number of normal/balanced frequencies, there remain many unbalanced spermatozoa resulting from adjacent mode of segregation. This raises the question of the unbalanced chromosomal risk for the offspring of 45,XY, t(13;14) males and the importance of the genetic counselling prior to ICSI or IVF treatment for couples where the male is a Robertsonian translocation carrier.
authors: Department of Cytogenetic and Reproductive biology, Farhat Hached, University Teaching Hospital, 4000, Sousse, Tunisia.
authors: Manel
authors: M
authors: Mahjoub
authors: Meriem
authors: M
authors: Mehdi
authors: Sonia
authors: S
authors: Brahem
authors: Hatem
authors: H
authors: Elghezal
authors: Samira
authors: S
authors: Ibala
authors: Ali
authors: A
authors: Saad
mesh_terms: D000328:Adult; D020090:Chromosome Segregation / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics; D005817:Genetic Counseling; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D059785:Karyotype; D008297:Male; D020554:Sperm Injections, Intracytoplasmic; D013094:Spermatozoa / Q000166:cytology*; D014178:Translocation, Genetic