Three-Generation Pedigree of a Mobius Syndrome Variant With Chromosome Translocation
- 1 July 1977
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Neurology
- Vol. 34 (7) , 437-442
- https://doi.org/10.1001/archneur.1977.00500190071011
Abstract
• 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.This publication has 7 references indexed in Scilit:
- New Chromosomal SyndromesArchives of Pediatrics & Adolescent Medicine, 1975
- Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring.Journal of Medical Genetics, 1975
- Production of G and C Banding with Progressive Trypsin TreatmentPediatric Research, 1973
- Observations on the pathology of the Moebius syndromeJournal of Neurology, Neurosurgery & Psychiatry, 1965
- Chromosome preparations of leukocytes cultured from human peripheral bloodExperimental Cell Research, 1960
- The Phenomenon of Position EffectPublished by Elsevier ,1950
- THE CONGENITAL FACIAL DIPLEGIA SYNDROME: CLINICAL FEATURES, PATHOLOGY AND ÆTIOLOGYBrain, 1939