Prevalence And Possible Effects of Pericentric Inversion of Chromosome 9 on Reproductive Failure in A Human Population of Northeast Bosnia and Herzegovina: A 10-year Retrospective Study

Abstract

Introduction: Since 1956 karyotype analysis becomes an essential part of routine medical diagnostics, and helped medical professionals investigate the origin of genetic abnormalities in many constitutional and cancer diseases. Karyotyping also provided more information in the monitoring of fertility problems. An inversion does not usually have a phenotypic effect, especially if it involves a heterochromatin area, such as 9qh. Chromosome 9 polymorphism, with breakpoints p11q13/p12q13, can be the cause of variant abnormal clinical conditions such as congenital abnormalities, hematological diseasesand also could have a connection with pregnancy loss and fertility failure. Methods: A retrospective study was conducted on 1784 cytogenetics examination results from peripheral blood samples in the period from January, 2012 to December, 2022. The patients, carriers inv(9) in their karyotype were highlighted for detailed analysis. Results: Among the 1784 patients, constitutional pericentric inversion inv(9)(p11q13) was found in 13 females (0,72%), while it was seen in 17 cases of males (0.95%). The total average amount of inv (9) in this study is 1.68%. The inv(9) population consists of 60% cases with infertility problems, 6,66% females who had spontaneous abortus and 33,33% were patientsreferred to our laboratory for other reasons. Conclusion: In this research, the prevalence of inv (9) in the population of patients of Northeast Bosnia and Herzegovina who had the reproductive failure is shown. We believe that these results will help in finding the key to the truth about the association of this chromosome polymorphism with some pathological conditions such as fertility problems.