Hypothesis regarding the nature of the fragile X mutation
β Scribed by W. T. Brown; S. L. Sherman; C. S. Dobkin
- Publisher
- Springer
- Year
- 1987
- Tongue
- English
- Weight
- 258 KB
- Volume
- 75
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
In an atteqt to understand the nature of the mtational event leading to the fra(X) syndrw, we have searched for sporadic cases in 3 populations: affected males, affected females, and non-affected transmitting females. isolated cases, and the reasons for this are discussed.
Three females were identified who have apparent reversal of fragile X premutations. Based on haplotype analysis of nearby markers, they were found to have inherited a fragile X chromosome from their premutation carrier mothers, and yet had normal size FMRl repeat alleles. The changes in repeat sizes