Article
Fragile X syndrome in females - a familial case report and review of the literature.
Developmental period medicine - 1 Jan 2000
Stembalska Agnieszka, Łaczmańska Izabela, Gil Justyna, Pesz Karolina A
Abstract excerpt
BACKGROUND: Fragile X syndrome (FXS), one of the manifestations of FMR1-related disorders, is one of the most frequent genetic causes of intellectual disability. In over 99% of all cases it results from the expansion of CGG repeats in the 5'-untranslated region of the FMR1 gene and presents in males and in about 50% of the females with an FMR1 full mutation, usually with a milder phenotype. OBJECTIVE: Although...
Topics
- Adult
- Alleles
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Humans
- Intellectual Disability
- Male
- Middle Aged
- Pedigree
- Polymerase Chain Reaction
- Young Adult