Article
Twin sisters, monozygotic with the fragile X mutation, but with a different phenotype.
Journal of medical genetics - 1 Aug 2000
Willemsen R, Olmer R, De Diego Otero Y, Oostra B A
Abstract excerpt
The absence of the fragile X mental retardation protein (FMRP) results in fragile X syndrome. All males with a full mutation in the FMR1 gene and an inactive FMR1 gene are mentally retarded while 60% of the females with a full mutation are affected. Here we describe monozygotic twin sisters who both have a full mutation in their FMR1 gene, one of whom is normal while the other is affected. Using molecular and...
Topics
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Humans
- Intellectual Disability
- Nerve Tissue Proteins
- Phenotype
- RNA-Binding Proteins
- Twins, Monozygotic