A novel phenotype of 13q12.3 microdeletion characterized by epilepsy in an Asian child: a case report.

ABSTRACT:

Background

The microdeletion of chromosome 13 has been rarely reported. Here, we report a 14-year old Asian female with a de novo microdeletion on 13q12.3.

Case presentation

The child suffered mainly from two types of epileptic seizures: partial onset seizures and myoclonic seizures, accompanied with intellectual disability, developmental delay and minor dysmorphic features. The electroencephalogram disclosed slow waves in bilateral temporal, together with generalized spike-and-slow waves, multiple-spike-and-slow waves and slow waves in bilateral occipitotemporal regions. The exome sequencing showed no pathogenic genetic variation in the patient's DNA sample. While the single nucleotide polymorphism (SNP) array analysis revealed a de novo microdeletion spanning 2.324 Mb, wit

SUBMITTER: Wang M 

PROVIDER: S-EPMC7539513 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature