A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient.
Misceo
Doriana
D
Department of Medical Genetics, Ullevål University Hospital and Faculty of Medicine, University of Oslo, Oslo, Norway.
Bjørgo
Kathrine
K
Ormerod
Eli
E
Ringen
Øyvind
Ø
Rocchi
Mariano
M
van der Hagen
Carl Birger
CB
Frengen
Eirik
E
D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002872:Chromosome Deletion; D022202:Chromosomes, Artificial, Bacterial; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D014178:Translocation, Genetic