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
• behavioral disorder
• mental retardation
• short stature
• microcephaly

Laboratory

• karyotyping

Complications

• non-convulsive status epilepticus

Management

• control of seizures
  • anticonvulsant(s)
    • seizures often refractor to anticonvulsants
  • ketogenic diet

More general terms

• genetic syndrome (multisystem disorder)

Additional terms

• human chromosome-20