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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1993 Dec;53(6):1262–1268.

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

L Wilson 1, A Curtis 1, J R Korenberg 1, R D Schipper 1, L Allan 1, G Chenevix-Trench 1, A Stephenson 1, J Goodship 1, J Burn 1
PMCID: PMC1682476  PMID: 8250042

Abstract

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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