RADIAL APLASIA AND CHROMOSOME 22Q11 DELETION

We report on a neonate with deletion 22q11 (de122q11) presenting with facial dysmorphism, ocular coloboma, congenital heart defect, urogenit al malformations, and unilateral radial aplasia. This malformation com plex includes features frequently occurring in velocardiofacial syndro me as well as findings described in the CHARGE and VACTERL association s. To our knowledge, the present case is the first report of radial ap lasia in de122q11. This observation further supports and extends the c linical variability of de122q11.