De novo interstitial tandem duplication of chromosome 20p12.1p13

T J L de Ravel; J R Vermeesch; J-P Fryns

doi:10.1002/ajmg.a.10825

De novo interstitial tandem duplication of chromosome 20p12.1p13

Am J Med Genet A. 2003 Feb 15;117A(1):76-9. doi: 10.1002/ajmg.a.10825.

Authors

T J L de Ravel¹, J R Vermeesch, J-P Fryns

Affiliation

¹ Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.

PMID: 12548744
DOI: 10.1002/ajmg.a.10825

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.

Publication types

Case Reports

MeSH terms

Child, Preschool
Chromosome Aberrations*
Chromosome Banding
Chromosomes, Human, Pair 20 / genetics*
Female
Gene Duplication
Humans
In Situ Hybridization, Fluorescence
Karyotyping