Article
Deletions within chromosome 22q11 in familial congenital heart disease.
Lancet (London, England) - 5 Sept 1992
Wilson D I, Goodship J A, Burn J, Cross I E, Scambler P J
Abstract excerpt
Because a locus on chromosome 22q11 is deleted in most individuals with DiGeorge and Shprintzen syndromes--conditions in which heart abnormalities are an important feature--we have looked for deletions in nine families with recurrent outflow-tract heart defects. In five families, chromosome 22 deletions were detected in all the living affected individuals studied and also in the clinically normal father of three...
Topics
- Autoradiography
- Chromosome Deletion
- Chromosomes, Human, Pair 22
- Female
- Heart Defects, Congenital
- Humans
- Male
- Pedigree
- Phenotype