A large, dominant pedigree of atrioventricular septal defect (AVSD): Exclusion from the Down syndrome critical region on chromosome 21
- Univ. of Newcastle-upon-Tyne (United Kingdom)
- Cedars-Sinai Medical Center, Los Angeles, CA (United States)
- Guy's Hospital, London (United Kingdom)
- Queensland Inst. of Medical Research, Brisbane (Australia)
The authors 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. The authors 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 [minus]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. 34 refs., 5 figs.
- OSTI ID:
- 5429047
- Journal Information:
- American Journal of Human Genetics; (United States), Vol. 53:6; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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