Article
Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype.
American journal of human genetics - 1 Jul 1998
Cerosaletti K M, Lange E, Stringham H M, Weemaes C M, Smeets D, Sölder B, Belohradsky B H, Taylor A M, Karnes P, Elliott A, Komatsu K, Gatti R A, Boehnke M, Concannon P
Abstract excerpt
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by microcephaly, a birdlike face, growth retardation, immunodeficiency, lack of secondary sex characteristics in females, and increased incidence of lymphoid cancers. NBS cells display a phenotype similar to tha...
Topics
- Chromosome Breakage
- Chromosome Mapping
- Chromosomes, Human, Pair 8
- Female
- Founder Effect
- Genes, Recessive
- Genetic Linkage
- Genotype
- Haplotypes
- Humans
- Linkage Disequilibrium
- Lod Score
- Male
- Microsatellite Repeats