Subtypes in 22q11. 2 deletion syndrome associated with behaviour and neurofacial morphology
B Sinderberry, S Brown, P Hammond…�- Research in�…, 2013 - Elsevier
22q11. 2 deletion syndrome (22q11DS) has a complex phenotype with more than 180
characteristics, including cardiac anomalies, cleft palate, intellectual disabilities, a typical
facial morphology, and mental health problems. However, the variable phenotype makes it
difficult to predict clinical outcome, such as the high prevalence of psychosis among adults
with 22q11DS (∼ 25–30% vs.∼ 1% in the general population). The purpose of this study
was to investigate whether subtypes exist among people with 22q11DS, with a similar�…
characteristics, including cardiac anomalies, cleft palate, intellectual disabilities, a typical
facial morphology, and mental health problems. However, the variable phenotype makes it
difficult to predict clinical outcome, such as the high prevalence of psychosis among adults
with 22q11DS (∼ 25–30% vs.∼ 1% in the general population). The purpose of this study
was to investigate whether subtypes exist among people with 22q11DS, with a similar�…