Analysis of chromosomal abnormalities in human sperm after chemotherapy by karyotyping and fluorescence in situ hybridization (FISH)

The frequency of numerical and structural chromosomal abnormalities was studied in the sperm of a lymphoma patient 3 years after MACOP-B chemotherapy (CT). Sperm karyotyping was performed by fusion of human sperm with hamster oocytes and analysis of 193 Q-banded sperm chromosomes. Multicolor fluorescence in situ hybridization (FISH) was performed on 10,228 sperm for analysis of disomy frequencies for chromosomes 1 and 12 and on 10,664 sperm for chromosomes X and Y. Sperm karyotyping demonstrated numerical abnormalities in 7.3% of the spreads, 6.7% hypohaploid and 0.5% hyperhaploid, giving a conservative estimate of aneuploidy of 1%. Structural chromosomal abnormalities were present in 7.3% of the karyotypes and 0.5% had both numerical and structural abnormalities. Results of FISH analyses yielded disomy frequencies of 0.10%, 0.11%, 0.04%, 0.05%, and 0.18% for chromosomes 1, 12, X, Y, and XY, respectively. The frequency of diploid sperm was 0.09%. The frequency of abnormalities was not significantly increased compared to control donors for any of the studies. Also, the frequencies of X- and Y-bearing sperm did not differ significantly from 50% in the sperm karyotyping or FISH studies.