FEATURES OF DIGEORGE-SYNDROME AND CHARGE ASSOCIATION IN 5 PATIENTS

We report on five patients presenting with features of two congenital disorders, DiGeorge syndrome (DGS) and CHARGE association. CHARGE asso ciation is usually sporadic and its origin is as yet unknown. Converse ly, more than 90% of DGS patients are monosomic for the 22q11.2 chromo somal region. In each of the five patients, both cytogenetic and molec ular analysis for the 22q11.2 region were normal. In view of the broad clinical spectrum and the Likely genetic heterogeneity of both disord ers, these cases are consistent with the extended phenotype of either DGS without 22q11.2 deletion or CHARGE association, especially as seve ral features of CHARGE association have been reported in rare patients with 22q11.2 deletion associated phenotypes. On the other hand, these could be novel cases of an independent association involving a comple x defect of neural crest cells originating from the pharyngeal pouches .