Article
An unusual fragile X sibship: female compound heterozygote and male with a partially methylated full mutation.
Clinical genetics - 1 Oct 1998
Russo S, Briscioli V, Cogliati F, Macchi M, Lalatta F, Larizza L
Abstract excerpt
We describe here a fragile X sibship of borderline retarded sister and brother born to carrier parents. The sister is a compound heterozygote (with a full mutation on one X chromosome and a pre-mutation on the other X chromosome). The brother has a partially methylated full mutation. The activati...
Topics
- Chromosome Fragility
- Cytogenetics
- DNA
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Heterozygote
- Humans
- Intelligence
- Intelligence Tests
- Male
- Methylation
- Mutation
- Nerve Tissue Proteins
- Neuropsychological Tests
- Nuclear Family
- Pedigree
- RNA-Binding Proteins