CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11)

A 3-year-old boy was diagnosed with CHARGE association on the basis of bila teral choanal atresia, absence of the semicircular canals, hypoplastic coch leae, genital hypoplasia, growth and developmental delays, cranial nerve dy sfunction, and facial anomalies. Ophthalmologic and cardiac evaluations wer e normal. He was found to have an apparently balanced t(2;7)(p14;q21,11) ch romosomal translocation, Parental karyotypes were normal, Although there is ; evidence suggesting a genetic basis for CHARGE association, individuals w ith chromosomal abnormalities and CHARGE are rare, In the described patient , the presence of characteristic CHARGE features suggests that the t(2;7)(p 14;q21.11) translocation breakpoints may cause a deletion or disruption of genes within the involved regions that are involved in the generation of th e CHARGE association phenotype. (C) 2001 Wiley-Liss, Inc.