A novel phenotype of 13q12.3 microdeletion characterized by epilepsy in an Asian child : a case report
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 w...
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| Main Authors: | , , , , |
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| Other Authors: | |
| Format: | Article |
| Language: | English |
| Published: |
2021
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| Subjects: | |
| Online Access: | https://hdl.handle.net/10356/146981 |
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| Institution: | Nanyang Technological University |
| Language: | English |
| Summary: | 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, within the cytogenetic band 13q12.3. Conclusions: The epilepsy may be associated with the mutation ofKATNAL1gene or the deletion unmasking a recessive mutation on the other allele, and our findings could provide a phenotypic expansion. |
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