A <i>de novo</i> tandem duplication 15(q21→qter) mosaic

Abstract

A tandem duplication of region 15(q21‐qter) occurred de novo in a mosaic infant with the following features: facial dimorphism with very small palpebral fissures, large prominent nose, micrographic, edematous hands and feet, short stubby fingers, muscular hypotonia and convulsive seizures.