Chromosome 8q21.11 Deletion Syndrome
摘要
Chromosome 8q21.11 deletion syndrome is an uncommon genetic disorder involving intellectual disability (ID), corneal opacities described as Peters anomaly (Happ et al. 2016), and typical facial dysmorphic features. According to Palomeras et al. (2011), the first large cohort comprised eight patients, and the 8q21.11–q21.3 submicroscopic deletions represented a clinically recognizable entity. Despite the variety of phenotypes among patients, common features were noted, including facial dysmorphism, developmental delay, hypotonia, developmental ocular abnormality, and behavioral problems. Aside from the typical features, other systemic defects may include sensorineural hearing loss, cleft palate, congenital cardiac abnormalities, and brain abnormalities (Palomares et al. 2011).