Male-to-male transmission of the velo-cardio-facial syndrome: a case report and review of 60 cases
Williams, M.A.; Shprintzen, R.J.; Goldberg, R.B.
Journal of Craniofacial Genetics and Developmental Biology 5(2): 175-180
1985
ISSN/ISBN: 0270-4145 PMID: 4019731 Document Number: 262552
The velo-cardio-facial syndrome is one of the most common syndromes of clefting. Previous reports showed vertical pedigree trnasmission, but in all cases the gene was maternally transmitted. The genetics of this syndrome were suspected as autosomal dominant, but X-linked dominant inheritance could not be ruled out. this report describes an instanceof male-to-male transmission of the velo-cardio-facial syndrome. The clinical findings in 60 cases are reported to further delineate the phenotypic spectrum of the syndrome.