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

Autor: Ziter, Fred A., Wiser, Wilmer C., Robinson, Arthur
Zdroj: Archives of Neurology; July 1977, Vol. 34 Issue: 7 p437-442, 6p
Abstrakt: • We report the clinical and cytogenetic data on seven members of a family, spanning 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.
Databáze: Supplemental Index