FISH analysis of the chromosomal status of spermatozoa from three men with 45,XY,der(13;14)(q10;q10) karyotype.

Abstract

Meiotic segregation of chromosomes 13 and 14 was studied in the ejaculated spermatozoa of three men carrying a translocation der(13;14)(q10;q10). The spermatozoa of these patients and of a donor with a normal 46,XY karyotype (control) were analysed by two-colour fluorescent in-situ hybridization (FISH) with specific chromosomal painting of chromosomes 13 and 14, by two-colour FISH detecting chromosomes 18 and 21 and by triple-colour FISH for chromosomes X, Y and 8. For patients 1, 2 and 3, respectively, 81.34, 82.60 and 88.90% of the analysed nuclei showed normal or balanced chromosomal status, resulting from the alternate segregation of the translocation. The rates of spermatozoa with an unbalanced status (disomy and nullisomy, 13 or 14) resulting from the adjacent mode of segregation were estimated respectively at 18.06, 16.32 and 10.80 (for patients 1, 2 and 3). Additional colour FISH analysis with probes specific for chromosomes X, Y, 8, 18 and 21 showed a significant increase in some disomy frequencies (8, 18, 21, X and Y for patient 1, only 18 for patient 2) in comparison with the control. These results would seem to indicate an interchromosomal effect.