Male-to-male transmission of mild Brachmann-de Lange syndrome.
We report on a father and son with mild Brachmann-de Lange syndrome. Previous reports have documented apparent autosomal dominant transmission; however, only one example of male-to-male transmission of possible Brachmann-de Lange syndrome has been reported. This case provides further evidence of the existence of an autosomal dominant form of Brachmann-de Lange syndrome.
Chodirker
B N
BN
Department of Child Health, University of Manitoba, Winnipeg, Canada.
Chudley
A E
AE
D000328:Adult; D002675:Child, Preschool; D003635:De Lange Syndrome / Q000235:genetics* / Q000473:pathology; D002658:Developmental Disabilities / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005799:Genes, Dominant; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008297:Male; D010641:Phenotype