Distal 12p deletion in a stillborn infant

A stillborn female with a “de novo” deletion of band 12p13 is described. Her main clinical manifestations are intrauterine growth retardation, unilateral cleft lip, protruding tongue, and small, low set, and posteriorly angulated ears. Comparison of this case with 4 previous reported patients with an isolated distal del(12p) fails to show significant common phenotypic characteristics.