Article
A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21.
American journal of human genetics - 1 Dec 1993
Wilson L, Curtis A, Korenberg J R, Schipper R D, Allan L, Chenevix-Trench G, Stephenson A, Goodship J, Burn J
Abstract excerpt
We describe a large pedigree of individuals with autosomal dominant atrioventricular septal defect (AVSD). The pedigree includes affected individuals and individuals who have transmitted the defect but are not clinically affected. AVSDs are a rare congenital heart malformation that occurs as only 2.8% of isolated cardiac lesions. They are the predominant heart defect in children with Down syndrome, making...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.