Three-generation pedigree of a Möbius syndrome variant with chromosome translocation.
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.
D000328:Adult; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005158:Facial Paralysis / Q000235:genetics*; D005260:Female; D006228:Hand Deformities, Congenital; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014178:Translocation, Genetic