Corneal pathology and aniridia associated with partial trisomy 2q, due to a maternal (2;6) translocation

A newborn with partial trisomy 2q, due to a maternal (2;6) translocation is presented. The baby had microcephaly, a prominent forehead, hypertelorism, a broad nose with a flat nasal bridge, a long philtrum, micrognathia, and low set ears which are common to cases with partial 2q trisomy. Additional findings of aniridia and marked corneal pathology are reported.