title: De novo interstitial tandem duplication of chromosome 20p12.1p13.
abstract: We report the first case of an individual with a de novo interstitial tandem duplication of the short arm of chromosome 20p12.1p13, discuss the clinical features, and propose the possible underlying mechanism of formation.
authors.affiliation: Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.
authors.forename: T J L
authors.initials: TJ
authors.lastname: de Ravel
authors.forename: J R
authors.initials: JR
authors.lastname: Vermeesch
authors.forename: J-P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping