Ring chromosome 20 mosaicism in a girl with complex partial seizures

Dev Med Child Neurol. 1994 Jan;36(1):70-3. doi: 10.1111/j.1469-8749.1994.tb11768.x.


The authors report an 11-year-old girl with epilepsy, poor school-performance and minor behavioural disorders. The epilepsy is characterized by complex partial seizures, sometimes progressing secondarily into generalized tonic-clonic seizures, and is poorly controlled by medical treatment. Chromosomal analysis revealed a ring chromosome 20 mosaicism. The affected patient shows signs of ring chromosome 20 syndrome, characterized in the present case by poor school-performance, behavioural disorders and epilepsy.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosomes, Human, Pair 20*
  • Epilepsy, Absence / genetics*
  • Female
  • Humans
  • Mental Disorders / etiology
  • Mosaicism / genetics*
  • Ring Chromosomes*