[Analysis of sperm chromosome in patients with chromosome balanced translocation by fluorescence in-situ hybridization].

OBJECTIVE: To investigate the chromosome segregation patterns in patients with chromosome balanced translocation in spermatogenesis and to find out different proportions of abnormal sperm generated by different patterns.

METHODS: Triple color fluorescence in-situ hybridization (FISH) was used to determine the correlative chromosome constitution of spermatozoa from 4 patients with chromosome anomalies, Case 1 with 46, XY, t(9;11)(q22;q21), Case 2 with 46, XY, t(11;22) (q23;q11), Case 3 with 45, XY, t(13q;15q) and Case 4 with 45, XY, t(13q;14q). The numbers of spermatozoa generated by different chromosome segregation patterns were counted by FISH, and normal sperm from the males with normal chromosome was used as control.

RESULTS: The rates of abnormal sperm in the 4 cases were 50.86%, 58.33%, 13.00% and 22.82% respectively, evidently higher than their corresponding controls (0.85%, 1.63%, 1.60% and 1.37%).

CONCLUSION: To detect sperm chromosome in patients with chromosome balanced translocation by FISH can provide valuable information for predicting the risk of chromosome anomalies in the embryo preimplantation genetic diagnosis.