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ring chromosome 20 syndrome

Epidemiology: - rare Genetics: - the two arms of chromosome 20 fuse to form a ring chromosome Clinical manifestations: - epilepsy, described as partial seizures [2] - behavioral disorder - mental retardation - short stature - microcephaly Laboratory: - karyotyping Complications: - non-convulsive status epilepticus [2] Management: - control of seizures - anticonvulsant(s) - seizures often refractor to anticonvulsants - ketogenic diet

Related

human chromosome-20

General

genetic syndrome (multisystem disorder)

References

  1. Wikipedia: Ring chromosome 20 syndrome https://en.wikipedia.org/wiki/Ring_chromosome_20_syndrome
  2. Genetics Home Reference Ring chromosome 20 syndrome https://ghr.nlm.nih.gov/condition/ring-chromosome-20-syndrome