Article
No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome.
American journal of medical genetics - 15 Jul 1994
Chiurazzi P, de Graaff E, Ng J, Verkerk A J, Wolfson S, Fisch G S, Kozak L, Neri G, Oostra B A
Abstract excerpt
Most fragile X patients have a significant increase in the number of CGG repeats in the FMR1 gene. Two patients were described with a deletion and one patient with a point mutation in the FMR1 gene. We describe 5 patients with a fragile X or Martin-Bell phenotype. Two brothers were discordant for the region containing the FMR1 gene; if there is a common cause for the mental retardation this is not located in the...
Topics
- Child
- Child, Preschool
- DNA Mutational Analysis
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genes
- Genotype
- Humans
- Intellectual Disability
- Male
- Mutation