Lack of intraindividual variation of unbalanced spermatozoa frequencies from a 46,XY,t(9;22)(q21;q11.2) carrier: Case report

The meiotic segregation pattern of 83 men carrying a balanced reciprocal translocation between two autosomes has already been published. Nevertheless, the question of intraindividual variations has not been addressed yet. A 32-year-old patient was found to be a carrier of a t(9;22)(q21;q11.2) during the investigations for a couple with infertility for 3 years. Two sperm samples were obtained at more than 3 months interval. Both sperm samples were analyzed in triple FISH with the D9Z1 and LSI BCR/ABL ES translocation probes. The frequency of gametes exhibiting a chromosomal imbalance was 45.32% and 42.1% in samples 1 and 2, respectively, with the unbalanced spermatozoa resulting from adjacent 1, adjacent 2, and 3:1 segregation in decreasing frequencies. No statistically significant difference was found between both segregation profiles. Four studies have analyzed the meiotic segregation pattern of translocations within families; they found similar profiles of meiotic segregation in each family, but not between families. This suggests, along with our results, that meiotic segregation is not a random process. More studies on intraindividual variations are necessary to allow a better understanding of the meiotic behaviour of chromosomal rearrangements and the practical interest of studies of this kind.