Three-generation pedigree of a Möbius syndrome variant with chromosome translocation
- PMID: 880069
- DOI: 10.1001/archneur.1977.00500190071011
Three-generation pedigree of a Möbius syndrome variant with chromosome translocation
Abstract
We report the clinical and cytogenetic data on seven members of a family, spaning three generations, who showed congenital facial diplegia and finger contractures. Each affected member showed an identical chromosome abnormality, reciprocal translocation between chromosome 1 and 13. The concurrence of the clinical and cytogenetic defect in this family suggests a direct and possibly etiologic relationship.
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