Cytogenetic Results of Patients with Infertility in Middle Anatolia, Turkey: Do Heterochromatin Polymorphisms Affect Fertility?

Introduction: infertility is a significant multifactorial disorder that can be caused by chromosomal abnormalities. in this study, we aimed to cytogenetically investigate male and female patients admitted to the genetic diagnostic laboratory of kayseri educational hospital in kayseri, turkey with varied clinical prediagnoses ofinfertility.materials and methods: chromosomes from cultured peripheral blood lymphocytesof 274 patients and 427 individuals as the controls were analyzed using giemsa-trypsin-giemsa (gtg) banding. the individuals with sex chromosome aneuploidy ormosaicism were classified as carriers and with chromosomal polymorphism,respectively. the results of the two groups were compared statistically.results: pure sex chromosome aneuploidy was found in 29 (10.5%) patients andmosaic sex chromosome aneuploidy in 15 (5.5%) cases and the total rate ofabnormalities was 16%. karyotypes were composed of an overall polymorphism rateof 8% in the patient and 4% in the control groups with no statistically significantdifference (p = 0.2 and p > 0.05, respectively).conclusion: the present study shows that chromosomal polymorphisms are commonamong infertile patients. chromosomal abnormalities and even heteromorphisms are significant etiologic factors leading to fertility problems.the overall high prevalence of chromosomal polymorphisms in infertile couples,compared to the normal population, needs to be confirmed with further investigations and larger study populations to delineate the role of “harmless” chromosomal aberrations in the etiology of infertility.