Three-generation pedigree of a Möbius syndrome variant with chromosome translocation

Arch Neurol. 1977 Jul;34(7):437-42. doi: 10.1001/archneur.1977.00500190071011.


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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Chromosome Aberrations* / genetics*
  • Chromosome Disorders*
  • Facial Paralysis / genetics*
  • Female
  • Hand Deformities, Congenital
  • Humans
  • Male
  • Pedigree
  • Syndrome
  • Translocation, Genetic*