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...
