Arthur Beaudet and colleagues report a recurrent 680-kb deletion within chromosome 15q13.3 associated with a range of neurodevelopmental phenotypes, including developmental delay, mental retardation and seizures. The deletion lies within the previously reported 1.5-Mb 15q13.3 deletion and spans only two genes, CHRNA7 and OTUD7A.
- Marwan Shinawi
- Christian P Schaaf
- Pawel Stankiewicz