Abstract Microdeletions of 2p15-16.1 have been reported in 15 patients with a recognizable
syndrome of dysmorphic features, intellectual disability and microcephaly. Facial features
include telecanthus, short palpebral fissures, epicanthal folds, a broad nasal root, smooth
and long philtrum and large ears. Brain malformations can be observed in this syndrome
and include hypoplasia of the corpus callosum and a simplified cortical gyral pattern. Case
reports have narrowed the critical region of the neurodevelopmental phenotype to a region …