Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus.
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.
Gutmann
D H
DH
Department of Neurology, Hospital, University of Pennsylvania, Philadelphia.
Brooks
M L
ML
Emanuel
B S
BS
McDonald-McGinn
D M
DM
Zackai
E H
EH
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