Article
Segregation of the fragile X mutation from an affected male to his normal daughter.
Human molecular genetics - 1 Oct 1992
Willems P J, Van Roy B, De Boulle K, Vits L, Reyniers E, Beck O, Dumon J E, Verkerk A, Oostra B
Abstract excerpt
We report here a family in which the fragile X mutation segregates from an affected grandfather through his normal daughter to an affected grandson. The grandson shows clinical and cytogenetic expression of fragile X syndrome due to a full mutation (large methylated insertion) in the fragile X gene (FMR-1). The mother shows a premutation (small unmethylated insertion) in her FMR-1 gene as the sole manifestation...
Topics
- Adult
- Arylsulfatases
- Child, Preschool
- Female
- Fragile X Syndrome
- Humans
- Ichthyosis, X-Linked
- Leukocytes
- Male
- Middle Aged
- Mutation
- Pedigree