Breakpoint variability as an explanation for phenotypical variation in 22q11DS. KU Leuven
The 22q11 deletion syndrome is a genomic aberration characterized by a recurrent microdeletion. The estimated prevalence is 1 in 4000 live births. Clinical features include congenital cardiac anomalies, a typical facial expression, immunological defects, mental retardation and psychiatric conditions like schizophrenia. The latter occurs in 30% of the patients, making 22q11DS the only known genetic factor with a high penetrance for the ...