TY - JOUR
T1 - Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus
AU - Gutmann, D. H.
AU - Brooks, M. L.
AU - Emanuel, B. S.
AU - McDonald-McGinn, D. M.
AU - Zackai, E. H.
PY - 1991
Y1 - 1991
N2 - 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.
AB - 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.
KW - Ullrich-Turner mosaic
KW - X-linked eye disease
KW - magnetic resonance imaging
UR - http://www.scopus.com/inward/record.url?scp=0025731534&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320390210
DO - 10.1002/ajmg.1320390210
M3 - Article
C2 - 2063919
AN - SCOPUS:0025731534
SN - 0148-7299
VL - 39
SP - 167
EP - 169
JO - American journal of medical genetics
JF - American journal of medical genetics
IS - 2
ER -