Ontology highlight
ABSTRACT:
SUBMITTER: Sharp AJ
PROVIDER: S-EPMC2365467 | biostudies-literature | 2008 Mar
REPOSITORIES: biostudies-literature
Nature genetics 20080217 3
We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine affected individuals, including six probands: two with de novo deletions, two who inherited the deletion from an affected parent and two with unknown inheritance. The proximal breakpoint of the largest deletion is contiguous with breakpoint 3 (BP3) of the Prader-Willi and Angelman syndrome region, extending 3.95 Mb distally to BP5. A smaller 1.5-Mb dele ...[more]