Physical findings in 21q22 deletion suggest critical region for 21q— phenotype in q22

Abstract

Multiple abnormalities were observed in a newborn infant with a deletion in the long arm of chromosome 21, from band 22q22.1→qter. The phenotype of this infant was similar to that previously described in infants with deletions spanning the long arm of chromosome 21, from the centromere to 21q22 [Rethoré et al., 1972, Exp Cell Res 70:455–456, 1973, Ann Genet (Paris) 16:271–275]. However, as a phenotypically normal child with normal intelligence and with deletion of 21q11.1–21q21.3 has also been identified [Korenberg et al., 1991, Hum Genet 87:112–118], this case suggests that the critical region of deletion for the 21q− phenotype lies distal to 21q21, within 21q22.1–22.2.