CHARGE syndrome was initially defined as a non-random association of anomalies
(Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital
hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the
classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve
anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major
characteristics or three major and three minor characteristics are highly likely to have …

CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in
a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on
chromosome 8q12 identified by array comparative genomic hybridization in two individuals
with CHARGE syndrome. Sequence analysis of genes located in this region detected
mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without
microdeletions, accounting for the disease in most affected individuals.