Congenital nystagmus cosegregating with a balanced 7;15 translocation.
case_report · Level V
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- Record sourced from PubMed, PMID 8326501.
- Also identified by PMC identifier 1016433.
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Abstract
We report a family in which autosomal dominant congenital nystagmus cosegregates with a balanced 7;15 translocation. Ophthalmic investigation showed predominantly horizontal nystagmus with a small rotatory component and no significant loss of visual function. This finding suggests a possible localisation for autosomal dominant congenital nystagmus (McKusick 164100).
Medical subject headings
- Chromosomes, Human, Pair 15
- Chromosomes, Human, Pair 7
- Nystagmus, Pathologic
- Translocation, Genetic