title: [Delta-F508 screening of infants at the Perinatal Intensive Care Center of the city if Pécs].
abstract: Cystic fibrosis (CF) is one of the most frequent (1:2500), potentially lethal autosomal recessive diseases among Caucasians. Molecular genetic examination has become the most valuable method used for diagnosis or population screening. 300 newborns treated in the Perinatal Intensive Care Unit were examined for the mutation delta F508. The results showed that the frequency of affected deltaF508 homozygotes was 1:100, which is significantly higher than found in the general population, but the frequency of carriers (1:33) is similar to the overall value.
authors.affiliation: Pécsi Orvostudományi Egyetem, Gyermekklinika.
authors.forename: J
authors.initials: J
authors.lastname: Stankovics
authors.forename: B
authors.initials: B
authors.lastname: Melegh
authors.forename: G
authors.initials: G
authors.lastname: Kosztolányi
mesh_terms: D002869:Chromosome Aberrations / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D025063:Chromosome Disorders; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D007363:Intensive Care Units, Neonatal; D008403:Mass Screening; D009154:Mutation