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Title
Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden.
Authors
Oskarsdóttir, S; Vujic, M; Fasth, A
Abstract
Almost all cases of DiGeorge syndrome, velo-cardio-facial syndrome and conotruncal anomaly face syndrome result from a common deletion of chromosome 22q11.2. These syndromes are usually referred to as the 22q11 deletion syndrome (22q11DS), which has a wide phenotypic spectrum and an estimated incidence of one in 4000 births.
Publication
Archives of disease in childhood, 2004, Vol 89, Issue 2, p148