title: Tandem duplication of proximal 5q.
abstract: 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.
authors.affiliation: División de Genética, Instituto Mexicano, Guadalajara, Jalisco, Mexico.
authors.forename: A
authors.initials: A
authors.lastname: Rojas-Martinez
authors.forename: D
authors.initials: D
authors.lastname: Garcia-Cruz
authors.forename: C
authors.initials: C
authors.lastname: Medina
authors.forename: M
authors.initials: M
authors.lastname: Moller
authors.forename: C M
authors.initials: CM
authors.lastname: Restrepo
authors.forename: H
authors.initials: H
authors.lastname: Rivera
mesh_terms: D002675:Child, Preschool; D002895:Chromosomes, Human, Pair 5; D002658:Developmental Disabilities / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D008297:Male; D005810:Multigene Family / Q000235:genetics*; D013577:Syndrome; D001619:beta-N-Acetylhexosaminidases / Q000097:blood
chemical_list: D001619:beta-N-Acetylhexosaminidases