Article
Molecular analysis of three patients with interstitial deletions of chromosome band 14q31.
Journal of medical genetics - 1 Jul 1995
Byth B C, Costa M T, Teshima I E, Wilson W G, Carter N P, Cox D W
Abstract excerpt
Two patients and one three generation family with interstitial deletions of distal chromosome band 14q31 are described. The deletions were initially identified by chromosome analysis; we have used highly informative simple sequence repeat polymorphisms to define the deletions at the molecular lev...
Topics
- Abnormalities, Multiple
- Chromosome Aberrations
- Chromosome Deletion
- Chromosome Disorders
- Chromosomes, Human, Pair 14
- Female
- Genetic Markers
- Humans
- Machado-Joseph Disease
- Male
- Minisatellite Repeats
- Pedigree
- Phenotype
- Polymerase Chain Reaction