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Article

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

BMC medical genomics - 6 Oct 2020

Wang Mina, Li Bin, Liao Zehuan, Jia Yu, Fu Yuanbo

Abstract excerpt

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...

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Identifiers

PMID: 33023587
DOI: 10.1186/s12920-020-00801-1
PMCID: PMC7539513

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