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1. 1. The 22q11 deletion syndrome.A clinical and epidemiological study

   Författare :Sólveig Oskarsdóttir; Göteborgs universitet; []
   Nyckelord :22q11 deletion; disability; dysmorphology; incidence; phenotype;

   Sammanfattning : Aims: The aims of this study were to 1) assess the incidence and prevalence of the 22q11 deletion syndrome(22q11DS) in a defined population of western Sweden, 2) to evaluate the presenting phenotype and 3)to investigate the profile of cognitive and nervous system-related disabilities and the resulting handicap,taking into account physical, neurological and psychological aspects.Material and Methods: The incidence was studied in children born in the Western Götaland Region,where Göteborg is the main city, during the years 1991-2000. LÄS MER