CHARGE association is a non-random occurrence of congenital malformations including coloboma, heart disease, choanal atresia, retarded growth and/or retarded development, genital hypoplasia, ear anomalies and/or deafness.
Etiology
germline mutations in the gene CHD7 coding for the chromodomain helicase DNA-binding protein-7 (MIM.608892).
Cytogenetics
der(9)t(9;13) (#11940088#)
der(6)t(4;6) (#11940088#)
See also