A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient

Am J Med Genet A. 2008 Dec 15;146A(24):3230-3. doi: 10.1002/ajmg.a.32582.

Authors

Doriana Misceo¹, Kathrine Bjørgo, Eli Ormerod, Øyvind Ringen, Mariano Rocchi, Carl Birger van der Hagen, Eirik Frengen

Affiliation

¹ Department of Medical Genetics, Ullevål University Hospital and Faculty of Medicine, University of Oslo, Oslo, Norway.

PMID: 19012337
DOI: 10.1002/ajmg.a.32582

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Child
Child, Preschool
Chromosome Aberrations
Chromosome Banding
Chromosome Deletion*
Chromosomes, Artificial, Bacterial
Chromosomes, Human, Pair 14 / genetics*
Chromosomes, Human, Pair 2 / genetics*
Chromosomes, Human, Pair 6 / genetics*
Developmental Disabilities / genetics*
Female
Gene Rearrangement
Humans
In Situ Hybridization, Fluorescence
Infant
Male
Translocation, Genetic*