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Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum
1Department of Pediatrics, Faculty of Medicine, Osaka University, Suita, Japan.
Pediatric Neurology
|February 24, 1999
Summary
This study describes a Japanese male with mosaicism of ring chromosome 14 and monosomy 14. The patient exhibited characteristic features, including intellectual disability and seizures, with a novel finding of a hypoplastic corpus callosum.
Area of Science:
- Genetics
- Neurology
- Developmental Biology
Background:
- Ring chromosome 14 syndrome is a rare chromosomal disorder.
- Characterized by intellectual disability, seizures, and distinctive facial features.
- Mosaicism involving ring chromosome 14 and monosomy 14 presents unique genetic challenges.
Observation:
- A Japanese male patient presented with features consistent with ring chromosome 14 syndrome.
- Electroencephalographic monitoring identified complex partial seizures originating in the left frontocentral region.
- Magnetic resonance imaging revealed a hypoplastic corpus callosum.
Findings:
- The patient displayed mosaicism for ring chromosome 14 and chromosome 14 monosomy.
- Seizures showed a positive response to phenobarbital treatment.
- Mild intellectual and motor development delays were observed.
- A hypoplastic corpus callosum was identified, a previously unreported association.
Implications:
- This case expands the known phenotypic spectrum of ring chromosome 14 syndrome.
- Highlights the importance of advanced neuroimaging in characterizing chromosomal abnormalities.
- Suggests potential genotype-phenotype correlations regarding corpus callosum development.