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Three-Generation Pedigree of a Mobius Syndrome Variant With Chromosome Translocation

1977; American Medical Association; Volume: 34; Issue: 7 Linguagem: Inglês

10.1001/archneur.1977.00500190071011

1538-3687

F. A. Ziter, W. C. Wiser, Angela Robinson,

Congenital Anomalies and Fetal Surgery

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.