Myoclonic epilepsy in a child with 17q22-q23.1 deletion.

Abstract excerpt

Interstitial deletions of the long arm of the chromosome 17 are relatively rare. Up to 17 cases involving the q22-q23.3 band have been reported so far. A common phenotype has not yet been delineated and epilepsy has been reported in only 2 out of 17 cases. We describe a clinical phenotype of epilepsy characterized by myoclonic atonic and absence seizures in a 6-year-old boy carrying a de novo 17q22q23 deletion...

Topics

• Child
• Chromosome Deletion
• Chromosomes, Human, Pair 17
• Comparative Genomic Hybridization
• Epilepsies, Myoclonic
• Humans
• In Situ Hybridization, Fluorescence
• Magnetic Resonance Imaging
• Male
• Phenotype