Neurological features and long-term follow-up in 15q11.2-13.1 duplication.
Various rearrangements occurring in the 15q11-q13 region have been reported in association with epilepsy. Deletions are the most frequent and are associated with Angelman or Prader-Willi syndrome. Duplications feature complex phenotypes including developmental delay, autistic-like behaviour and seizures. Among these, trisomy has been described as a milder phenotype compared to tetrasomy, but reports are rare and the phenotype is not yet defined. Here we report two adult cases with a 15q11.2-13.1 duplication showing a complex and similar epileptic phenotype.
Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Epilepsy Society, Chesham Lane, Chalfont St Peter, Bucks, UK. Electronic address: antonietta.coppola1@gmail.com.
Antonietta
A
Coppola
Patrizia
P
Ruosi
Lia
L
Santulli
Salvatore
S
Striano
Federico
F
Zara
Pasquale
P
Striano
Sanjay M
SM
Sisodiya
D000328:Adult; D002869:Chromosome Aberrations; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics; D004569:Electroencephalography; D004827:Epilepsy / Q000175:diagnosis* / Q000235:genetics; D005500:Follow-Up Studies; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D010641:Phenotype; D013577:Syndrome
15q11.2-q13.1 duplication; Array-CGH; Epilepsy; Language