A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21

Am J Hum Genet. 1993 Dec;53(6):1262-8.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Autoradiography
  • Child
  • Chromosomes, Human, Pair 21*
  • Down Syndrome / genetics*
  • Electrophoresis, Polyacrylamide Gel
  • Female
  • Genetic Linkage*
  • Genetic Markers
  • Genotype
  • Heart Septal Defects / genetics*
  • Humans
  • Infant
  • Lod Score
  • Male
  • Middle Aged
  • Pedigree
  • Polymorphism, Genetic


  • Genetic Markers