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...
Topics
- Adult
- Aged
- Autoradiography
- Child
- Chromosomes, Human, Pair 21
- Down Syndrome
- Electrophoresis, Polyacrylamide Gel
- Female
- Genetic Linkage
- Genetic Markers
- Genotype
- Heart Septal Defects
- Humans
- Infant
- Lod Score