Molecular pathology of the fragile X syndrome.

Abstract excerpt

Fragile X syndrome is the most common form of familial mental retardation (one in 1250 males and one in 2500 females, characterized by prominent dysmorphic features, macro-orchidism, and varying degrees of mental retardation. Diagnosis of this syndrome has relied on cytogenetic demonstration of the fragile site at position Xq27.3. A gene associated with the fragile X syndrome, FMR-1, has been isolated and mapped...

Topics

• Blotting, Southern
• Cytogenetics
• Female
• Fragile X Syndrome
• Gene Expression
• Humans
• Male
• Mutation
• Pedigree