Article
Fragile X syndrome: a hypothesis regarding the molecular mechanism of the phenotype.
American journal of medical genetics - 1 Jan 2000
Warren S T
Abstract excerpt
Among all the human chromosomal fragile sites currently recognized, the fragile site mapping to Xq27.3 is the only one associated with an abnormal phenotype. This phenotype, referred to as the Martin-Bell or fragile X syndrome, has mental retardation as its most important manifestation. We propos...
Topics
- Chromosome Deletion
- Female
- Fragile X Syndrome
- Heterozygote
- Humans
- Male
- Models, Genetic
- Mosaicism
- Phenotype
- Sex Chromosome Aberrations
- X Chromosome