Investigation of the interchromosomal effects in male carriers with structural chromosomal abnormalities using FISH

Objective: The interchromosomal effect (ICE) refers to the uncertainty during meiosis where the rearrangement of the chromosomes affects the segregation of the chromosomes that are not involved in the structural chromosomal abnormalities. The aim of this study is to investigate the existence of ICE in the sperm nuclei of the males who have structural chromosomal abnormalities.

Material and methods: Nine male individuals who are the carriers of the structural chromosomal abnormalities (patient group) and 14 male individuals who did not have any chromosomal abnormalities (control group) were diagnosed by the classical cytogenetic analysis. The aneuploidy of chromosomes 2, 3, 12, 13, 17, 18, 21, X, and Y in the sperm nuclei was investigated using the fluorescence in situ hybridization (FISH) method in these individuals. The patient group included 5 Robertsonian translocation (ROB) carriers, 3 reciprocal translocation (RCP) carriers, and 1 inversion carrier.

Results: A total of 51921 sperm nuclei were analyzed (19484 from the patient group and 32437 from the control group). While ICE was determined in 4 of 5 patients who were the carriers of ROB and an inversion carrier patient, it was not determined in the patient carrier of RCP.

Conclusion: Our results suggest that there is ICE in the male carriers with a structural chromosomal abnormality, which appears to be translocation, breakpoint, chromosome, and patient dependent.

Cite this article as: Balasar Ö, Acar H. Investigation of the interchromosomal effects in male carriers with structural chromosomal abnormalities using FISH. Turk J Urol 14 April 2020; 46(3): 178-85.