Tandem duplication of proximal 5q

A 3.5-year-old boy with a de novo tandem duplication 5q11.1→5q15 is reported. Since the physical stigmata of seven liveborn cases with 5q proximal duplications are variable and inconspicuous, a recognizable syndrome could not be delineated. On the contrary, the associated developmental delay seems to be severe in duplications extending into 5q22 and mild in duplications 5q11→q13.