The homogeneously staining regions in patients with leukaemia (case reports)
Andrea Blahová, Alexandra Oravcová, Kristína Lengyelová, Alena Žákovičová, Kristína Horváthová, Lucia Žideková, Renata Lukačková
Introduction: The homogeneously staining regions (hsr) just as the dmin represent cytogenetically visible signs of gene amplification. They contain copies of an amplified DNA segment....
The implementation of the treatment with tyrosine kinase inhibitors (TKIs) in patients with chronic myelocyte leukemia has significantly influenced the prognosis of the disease. TKI...
Finding of a marker chromosome in a child with Cat-eye syndrome (case study)
Katarína Tóthová, Gabriel Minárik, Dagmar Landlová, Erika Tomková, Miroslav Tomka, Luďka Wlachovská, Gabriela Hrčková, Peter Križan, Renata Lukačková
Cat-eye syndrome (CES) is a rare genetic disease. Individuals with normal karyotype have two normal acrocentric chromosomes 22, which are composed of a short arm...
Martina Sekelská, Anita Izsáková, Katarína Kubošová, Petra Tilandyová, Erika Csekes, Žaneta Kúchová, Michaela Hýblová, Renata Lukačková, Dagmar Landlová, Peter Križan, Mária Haršanyová, Jaroslav Budiš, Marcel Kucharik, Tomáš Szemes, Gabriel Minárik
Low coverage whole genome sequencing routinely used in noninvasive prenatal testing is able to detect not only most commonly screened chromosomal aneuploidies but also nontargeted...
