Ring chromosome 21 in the differential diagnosis of waddling gait

Brain Dev. 2012 Oct;34(9):792-5. doi: 10.1016/j.braindev.2011.12.003. Epub 2011 Dec 29.

Abstract

Ring chromosome 21 syndrome is a rare clinical condition. Most of the patients have a recognizable phenotype and multisystem involvement is described. Structural neurologic anomalies have also been described, but waddling gait due to lower motor neuron involvement has not been previously reported in association with ring 21.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Disorders / complications
  • Chromosome Disorders / genetics
  • Chromosomes, Human, Pair 21
  • Gait Disorders, Neurologic / complications*
  • Gait Disorders, Neurologic / genetics
  • Gait Disorders, Neurologic / pathology
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Ring Chromosomes*

Supplementary concepts

  • Chromosome 21 ring