Article
FRAXE mutation analysis in three Spanish families.
American journal of medical genetics - 9 Aug 1996
Carbonell P, López I, Gabarrón J, Bernabé M J, Lucas J M, Guitart M, Gabau E, Glover G
Abstract excerpt
Very little is known about the phenotype of FRAXE-positive individuals and the relation between the genotype/phenotype and genotype/ cytogenetic expression. We describe three families with normal and mildly affected individuals and a severely retarded male expressing fragility at the FRAXE locus...
Topics
- Adolescent
- Adult
- Chromosome Fragility
- Diagnosis, Differential
- Female
- Fragile X Syndrome
- Genotype
- Humans
- Intellectual Disability
- Intelligence Tests
- Male
- Pedigree
- Phenotype
- Sex Chromosome Aberrations
- Spain
- X Chromosome