title: An Irish three-generation family of Cornelia de Lange syndrome displaying autosomal dominant inheritance.
abstract: The existence of familial de Lange syndrome has been documented in sibs and in parent-child families, but the inheritance pattern continues to be the cause of much debate. We describe a classically affected neonate with de Lange syndrome, an affected mother and probably affected maternal grandmother. These cases show evidence for a dominantly inherited syndrome with a de Lange phenotype.
authors.affiliation: Department of Medical Genetics, Belfast City Hospital Trust, Belfast, UK.
authors.forename: V
authors.initials: V
authors.lastname: McConnell
authors.forename: T
authors.initials: T
authors.lastname: Brown
authors.forename: P J
authors.initials: PJ
authors.lastname: Morrison
mesh_terms: D000328:Adult; D003635:De Lange Syndrome / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D009660:Northern Ireland; D010375:Pedigree; D010641:Phenotype