Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus

Am J Med Genet. 1991 May 1;39(2):167-9. doi: 10.1002/ajmg.1320390210.

Abstract

X-linked congenital nystagmus is a rare disorder in which affected males manifest binocular uniplanar nystagmus with associated head oscillation. In the families previously reported, affected females have been described. We report on a multigeneration family with X-linked congenital nystagmus with an affected woman. She was a (46,XX/45,X) mosaic. Magnetic resonance images of the brain of affected individuals were normal.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Chromosome Mapping
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Mosaicism
  • Nystagmus, Pathologic / congenital
  • Nystagmus, Pathologic / genetics*
  • Pedigree
  • Turner Syndrome / genetics
  • X Chromosome*