A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21.
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 chromosome 21 a candidate for genes involved in atrioventricular septal development. We have carried out a linkage study in the pedigree by using 10 simple-sequence polymorphisms from chromosome 21. Multipoint linkage analysis gives lod scores of less than -2 for the region of trisomy 21 associated with heart defects, which excludes a locus within this region as the cause of the defect in this family.
Wilson
L
L
Division of Human Genetics, University of Newcastle-upon-Tyne, England.
Curtis
A
A
Korenberg
J R
JR
Schipper
R D
RD
Allan
L
L
Chenevix-Trench
G
G
Stephenson
A
A
Goodship
J
J
Burn
J
J
D000328:Adult; D000368:Aged; D001345:Autoradiography; D002648:Child; D002891:Chromosomes, Human, Pair 21; D004314:Down Syndrome / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006343:Heart Septal Defects / Q000235:genetics*; D006801:Humans; D007223:Infant; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011110:Polymorphism, Genetic
D005819:Genetic Markers