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

D. H. Gutmann, M. L. Brooks, B. S. Emanuel, D. M. McDonald-McGinn, E. H. Zackai

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

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.

Original languageEnglish
Pages (from-to)167-169
Number of pages3
JournalAmerican journal of medical genetics
Volume39
Issue number2
DOIs
StatePublished - 1991

Keywords

  • Ullrich-Turner mosaic
  • X-linked eye disease
  • magnetic resonance imaging

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