Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus.
نویسندگان
چکیده
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.
منابع مشابه
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ورودعنوان ژورنال:
- American journal of medical genetics
دوره 39 2 شماره
صفحات -
تاریخ انتشار 1991