Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5905008 | European Journal of Medical Genetics | 2012 | 7 Pages |
Abstract
⺠R(20) syndrome is associated with seizures that are typically partial complex in nature. ⺠R(20) seizures are difficult to control and are associated with behavioral problems and mild to severe cognitive impairment. ⺠The majority of patients are mosaics, with the ring formed post-zygotically by telomere fusion. ⺠The ring has no associated deletions in most patients (mosaics), necessitating standard chromosome analysis. ⺠All non-mosaic patients identified have deletions associated with the ring.
Keywords
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Genetics
Authors
Robert D. Daber, Laura K. Conlin, Laura D. Leonard, Maria P. Canevini, Aglaia Vignoli, Syed Hosain, Lawrence W. Brown, Nancy B. Spinner,