Article
Fragile X syndrome and deletions in FMR1: new case and review of the literature.
American journal of medical genetics - 12 Nov 1997
Hammond L S, Macias M M, Tarleton J C, Shashidhar Pai G
Abstract excerpt
The fragile X syndrome phenotype of mental retardation is almost always caused by abnormal CGG trinucleotide amplification within the FMR1 gene. Occasionally fragile X syndrome results from point mutations or deletions within or around the FMR1 locus. We have identified a mentally retarded Africa...
Topics
- Adolescent
- Exons
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Humans
- Male
- Mental Disorders
- Mutation
- Nerve Tissue Proteins
- Phenotype
- RNA-Binding Proteins
- Sequence Deletion