Article
Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.
American journal of human genetics - 1 Apr 2001
Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock G R, Ehtesham N, Bétard C, Brewer C G, Roslin N M, Hudson T J, Morgan K, Fujiwara T M, Durie P R, Rommens J M
Abstract excerpt
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by exocrine pancreatic insufficiency and hematologic and skeletal abnormalities. A genomewide scan of families with SDS was terminated at approximately 50% completion, with the identification of chromosome 7 markers that showed linkage with the disease. Finer mapping revealed significant linkage across a broad interval that included...
Topics
- Alleles
- Bone Marrow Diseases
- Centromere
- Chromosome Mapping
- Chromosomes, Human, Pair 7
- Exocrine Pancreatic Insufficiency
- Female
- Gene Frequency
- Genes, Recessive
- Genetic Heterogeneity