Open AccessHomozygous 15q13.3 microdeletion in a child with hypotonia and impaired vision: A new report and review of the literature
Author(s) -
Simon Julie,
Stoll Katie,
Fick Roger,
Mott Jared,
LawsonYuen Amy
Publication year - 2019
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.2403
Subject(s) - hypotonia , medicine , abnormality , epilepsy , encephalopathy , chromosomal abnormality , pediatrics , audiology , neuroscience , psychiatry , genetics , psychology , karyotype , biology , chromosome , gene
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.