Homozygous 15q13.3 microdeletion in a child with hypotonia and impaired vision: A new report and review of the literature

Abstract

Abstract Although there are numerous reports of heterozygous 15q13.3 microdeletion, homozygous 15q13.3 microdeletion is rare. We report a new patient with homozygous microdeletion of 15q13.2q13.3 and review the previous literature reports. Common clinical features include encephalopathy, hypotonia, developmental delay, cortical vision impairment, optic nerve abnormality, epilepsy, and abnormal electroencephalogram (EEG) findings.

Keywords

• genetics
• neurology
• ophthalmology
• pediatrics and adolescent medicine