Defining the clinical spectrum of deletion 22q11. 2

NH Robin, RJ Shprintzen - The Journal of pediatrics, 2005 - jpeds.com
These studies have produced many important genetic and clinical discoveries and have
also led to several misunderstandings about del22q11, generating confusion among
parents as well as healthcare professionals. Del22q11 is among the most clinically variable
syndromes, 1 with more than 180 features associated with the deletion. 1, 2 Table I provides
a modified list of structural and functional anomalies that have been reported to occur in the
syndrome. Although the phenotype is very expansive, covering nearly every biological and …