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

✍ Scribed by Gutmann, David H. ;Brooks, Michael L. ;Emanuel, Beverly S. ;McDonald-McGinn, Donna M. ;Zackai, Elaine H.

Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
299 KB
Volume
39
Category
Article
ISSN
0148-7299

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✦ Synopsis

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.

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