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

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.

• Authors: D H Gutmann, M L Brooks, B S Emanuel, D M McDonald-McGinn, E H Zackai
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 39 Issue 2 Pg. 167-9 (May 01 1991) ISSN: 0148-7299 [Print] United States
• PMID: 2063919 (Publication Type: Case Reports, Journal Article)

Topics

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