Cytogenetic Analysis of Selected Genetically Determined Diseases in Eastern Slovakia

Abstract

 This work presents the results of cytogenetic analysis performed during the period 1990-2021. The work focuses on cytogenetic analysis of selected diseases that represent a serious medical and social problem in the Prešov region of east­ern Slovakia. The analysis also included the determination of cytogenetic and molecular-genetic marker frequency re­lated to selected clinical genetic diseases in a specified population of Roma ethnicity. Chromosome analysis confirmed a wide spectrum of chromosomal aberrations in patients with Down’s syndrome and Turner syndrome, revealing a spectrum of aberrations from monosomy X, isochromosome Xq, and deletions Xp to marker chromosomes. Chromosomal aberrations cause 5.5% of fertility disorders in couples, with numerical and structural chromosomal aberrations found in 2.1 and 3.4% respectively, revealing a risk finding for offspring of carriers of balanced translocations. Microdeletions, combined microdeletions (AZFb,c) and complete deletion of the AZF region of the Y chromosome were found in men diagnosed with azoospermia. In addition, pathological karyotypes were detected in men and women (13 and 10%). Another set of analyses in patients with onco-haematological diseases revealed presence of Philadelphia chromosome (Ph1) in 94.4% of patients with chronic myeloid leukaemia, complex translocation of chromosomes 8, 9, 22; mosaic karyotype of Ph1. Chromosomal aberrations in patients with myelodysplastic syndrome also included also atypical and as yet unpublished cytogenetic markers. Myeloproliferative diseases were detected in 28.3% of patients with heterogenous chromosomal aberrations. Revelations from cytogenetic analysis enable improvement in the efficiency of health care, diagnostics, therapeutic sig­nificance and prognosis of affected people in the majority population and Roma minority in this region of Slovakia.

doi:10.5671/ca.47.3.7