title: Discordant repeat size and phenotype in Kennedy syndrome.
abstract: 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 phenotype was identical to motor neurone disease. There is variability of expression in Kennedy syndrome and repeat length even in siblings cannot be taken as a conclusive indicator of severity. CAG repeat length cannot be used to predict the natural history of Kennedy disease. The diagnosis of Kennedy syndrome should be considered in male patients presenting with atypical motor neurone disease.
authors.affiliation: Department of Medical Genetics, Belfast City Hospital Trust, UK.
authors.forename: P J
authors.initials: PJ
authors.lastname: Morrison
authors.forename: M
authors.initials: M
authors.lastname: Mirakhur
authors.forename: V H
authors.initials: VH
authors.lastname: Patterson
mesh_terms: D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009133:Muscular Atrophy / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D018911:Trinucleotide Repeats