1.
Clin Case Rep
; 7(12): 2311-2315, 2019 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31893048
RESUMO
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.