Title: Terminal 6p deletion syndrome mimicking CHARGE syndrome: A case report
Abstract: The clinical features associated with terminal 6p deletion syndrome include anterior eye chamber defects, hearing loss, congenital heart anomalies and characteristic facies along with developmental delays.These features overlap with a number of other conditions including CHARGE syndrome.This acronym stands for non-random association of anomalies including coloboma of the eye, heart anomalies, choanal atresia, retardation of growth and development, genital hypoplasia and ear anomalies/deafness now known to be caused by CHD7 mutations.We describe a boy initially diagnosed with CHARGE syndrome who was subsequently found to have a terminal 6p deletion.Screening for 6p deletions in individuals presenting with atypical CHARGE syndrome may be warranted, with direct consequences for genetic counseling.