Article
Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development.
American journal of medical genetics - 1 Jan 2000
Devys D, Biancalana V, Rousseau F, Boué J, Mandel J L, Oberlé I
Abstract excerpt
The fragile X syndrome, the most common cause of inherited mental retardation, is characterized by unique genetic mechanisms, which include amplification of a CGG repeat and abnormal DNA methylation. We have proposed that 2 main types of mutations exist. Premutations do not cause mental retardati...
Topics
- Adult
- Child
- Chorionic Villi Sampling
- DNA Mutational Analysis
- Diseases in Twins
- Female
- Fragile X Syndrome
- Humans
- Male
- Methylation
- Phenotype
- Pregnancy
- Prenatal Diagnosis
- Twins, Monozygotic