Article
Asplenia in two father-son pairs.
American journal of medical genetics - 13 Mar 1995
Lindor N M, Smithson W A, Ahumada C A, Michels V V, Opitz J M
Abstract excerpt
We report on two father-son pairs with isolated nonsyndromal asplenia. This may represent autosomal dominant inheritance of a mutation in a gene involved with spleen development and determination of laterality. The incidence of hereditary isolated asplenia is unknown; therefore, screening for asplenia in first degree relatives of individuals with (poly)asplenia should be considered.
Topics
- Child
- Fatal Outcome
- Female
- Genes, Dominant
- Humans
- Infant
- Male
- Mutation
- Spleen