De novo interstitial tandem duplication of chromosome 20p12.1p13.
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.
de Ravel
T J L
TJ
Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.
Vermeesch
J R
JR
Fryns
J-P
JP
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