Congenital nystagmus in a (46, XX/45,X) mosaic woman from a family with X-linked congenital nystagmus
- 1 May 1991
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 39 (2) , 167-169
- https://doi.org/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.Keywords
This publication has 16 references indexed in Scilit:
- Complicated hereditary spastic paraparesis with cerebral white matter lesionsAmerican Journal of Medical Genetics, 1990
- Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3Genomics, 1989
- A fertile woman with non‐mosaic Turner's syndrome. Case report and review of the literatureBJOG: An International Journal of Obstetrics and Gynaecology, 1989
- Fast-phase instabilities in normally sighted relatives of congenital nystagmus patients—autosomal dominant and x-chromosome recessive modes of inheritanceNeurosurgical Review, 1988
- Hereditary congenital nystagmus A Japanese pedigreeOphthalmic Paediatrics and Genetics, 1986
- Adrenoleukodystrophy: Survey of 303 cases: Biochemistry, diagnosis, and therapyAnnals of Neurology, 1984
- X-linked ocular albinismHuman Genetics, 1981
- Forsius‐Eriksson syndrome: Its relation to the Nettleship‐Falls X‐linked ocular albinismClinical Genetics, 1980
- Latent, Manifest Latent, and Congenital NystagmusArchives of Ophthalmology (1950), 1979
- X‐linked cerebellar ataxiaClinical Genetics, 1970