DiGeorge anomaly associated with 10p deletion

Abstract

DiGeorge anomaly (DGA) represents a heterogeneous entity, which is often sporadic, although familial cases and the association with monosomy 22q11 have been reported. Recently, a few patients with 10p deletion syndrome and immunological and other laboratory findings similar to DGA have been described. We report on an additional case of partial DGA associated with 10p deletion.