Chromosomal segregation in sperm of Robertsonian translocation carriers

Abstract

To study meiotic segregation patterns of Robertsonian translocations in sperm of male carriers and to assess the frequencies of unbalanced sperm formation. FISH with combination of probes to detect all the variants of meiotic segregation was performed on decondensed sperm nuclei of 5 carriers of der(13;14), 3 carriers of der(14;21) and one carrier of a rare der(13;21) translocation. The frequency of sperm with alternate segregation and normal/balanced chromosomal complement ranged from 68% to 94.4% (mean 79.2 ± 8.4). Adjacent segregation was detected in 17.9 ± 7.3% of sperm (from 5.6% to 29%). No significant differences in frequencies of gametes with nullisomies and disomies of chromosomes involved in translocations were observed. The mean frequency of 3:0 segregation products was 2.5 ± 1.4%. All analyzed patients showed homogenous segregation pattern with clear predominance of alternate segregation resulting in normal/balanced sperm production. Still, from 5.8-32% (mean 20.4 ± 8.3%) of sperm was unbalanced, which is the evidence of the increased risk of unbalanced offspring in carriers of Robertsonian translocations. Our results highlight the importance of genetic counseling of Robertsonian translocation carriers prior to ICSI or IVF.