Article
Discordant repeat size and phenotype in Kennedy syndrome.
Clinical genetics - 1 Apr 1998
Morrison P J, Mirakhur M, Patterson V H
Abstract excerpt
Previous reports in the literature have described correlation of increasing repeat length with severity of the phenotype, in Kennedy syndrome. We describe male siblings with different repeat lengths, with lack of expression of the phenotype in the sibling with the longer repeat length. The phenot...
Topics
- Diagnosis, Differential
- Female
- Humans
- Male
- Middle Aged
- Muscular Atrophy
- Pedigree
- Phenotype
- Syndrome
- Trinucleotide Repeats