We present a female child with features of the CHARGE association including iris coloboma, large ventricular septum defect (VSD), external ear abnormalities, severe growth retardation and moderate mental delay. A submicroscopic deletion in chromsome 22q11 was detected by means of fluorescence in situ hybridization (FISH) using probe D0832. The clinical features in this child compromise characteristics of both the velo‐cardio‐facial syndrome (VCFS) and the cat‐eye syndrome. This may suggest the presence of a more complex rearrangement of 22q, with a deletion‐duplication.