Citogenetička analiza odabranih genetski uvjetovanih bolesti u istočnoj Slovačkoj

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 Chromosomal aberrations in patients with myelodysplastic syndrome also included also atypical and as yet unpublished cytogenetic markers.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.