Mosaic normal/15q11-q13 duplication associated with developmental delay but normal phenotype.
We report a proximal duplication in the long arm of chromosome 15 (15q11-15q13) in mosaic with a normal cell line in a 4-year-old boy presenting developmental delay and history of seizures, but normal phenotype.
Center for Human Genetics, University of Leuven, Belgium.
E
E
Goossens
P
P
Decock
S
S
Potgieter
J P
JP
Fryns
D002460:Cell Line; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D015342:DNA Probes; D002658:Developmental Disabilities / Q000235:genetics*; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007621:Karyotyping; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D010641:Phenotype
D015342:DNA Probes