Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden

Abstract

The number of individuals diagnosed depends on the experience and awareness of the syndrome among specialists who encounter these children and also the severity of the phenotype. The higher frequency of 22q11DS found in Gothenburg is an example of increased awareness. The true incidence and prevalence of this syndrome will only be found through population-based screening, but this would be too expensive and ethically questionable. Screening of specific risk populations would be more justified.