4q- syndrome (4q deletion syndrome) 4

General: Chromosome 4q deletion syndrome.

Ocular: Hypertelorism, epicanthal folds.

Clinical: Depressed nasal bridge; short nasal septum with upturned nose, cleft lip and palate; micrognathia; low-set malformed ears; short neck; distally placed nipples; sacral dimple; hypospadias; dysplastic nails; overriding toes; simian creases; hypoplasia of gall bladder; cardiac defects; mental retardation.

Robertson SP, O'Day K, Banker A. The 4q- syndrome: delineating of the minimal critical region to within band 4q31. Clin Genet 1998; 53:70-73.

Townes PL, White M, DiMarzo SV. 4q- syndrome. Am J Dis Child 1979; 133:383-385.

Yu CW, et al. Terminal deletion of the long arm of chromosome 4. Report of a case of 46,XY,del(4)(q31) and review of 4q- syndrome. Ann Genet 1981; 24:158-l61.