title: 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.affiliation: Department of Neurology, Hospital, University of Pennsylvania, Philadelphia.
authors.forename: D H
authors.initials: DH
authors.lastname: Gutmann
authors.forename: M L
authors.initials: ML
authors.lastname: Brooks
authors.forename: B S
authors.initials: BS
authors.lastname: Emanuel
authors.forename: D M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: E H
authors.initials: EH
authors.lastname: Zackai
mesh_terms: D000368:Aged; D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009030:Mosaicism; D009759:Nystagmus, Pathologic / Q000151:congenital / Q000235:genetics*; D010375:Pedigree; D014424:Turner Syndrome / Q000235:genetics; D014960:X Chromosome