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.

Keywords

Male, Child, Preschool, Developmental Disabilities, Karyotyping, Multigene Family, Chromosomes, Human, Pair 5, Humans, Syndrome, beta-N-Acetylhexosaminidases

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