A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype.
We report on a 11-year-old boy investigated for a clinical suspicion of Angelman syndrome (AS) (OMIM 105830) who was found to carry a de novo interstitial deletion of chromosome 15q13.2q13.3. The deletion overlaps the critical region for the newly recognized recurrent 15q13.3 deletion syndrome. This is the first report of a patient with 15q13.3 deletion syndrome with clinical features similar to that of AS, thus broadening the phenotypic spectrum associated with the 15q13.3 microdeletion syndrome.
Barøy
Tuva
T
Institute of Medical Genetics, Faculty of Medicine, University of Oslo, Norway.
Misceo
Doriana
D
Braaten
Oivind
O
Helle
Johan R
JR
Fannemel
Madeleine
M
Strømme
Petter
P
Frengen
Eirik
E
D000328:Adult; D017204:Angelman Syndrome / Q000235:genetics* / Q000473:pathology; D002648:Child; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype