Molecular/clinical correlations in females with fragile X
β Scribed by Sobesky, William E.; Taylor, Annette K.; Pennington, Bruce F.; Bennetto, Loisa; Porter, Deborah; Riddle, Jeannette; Hagerman, Randi J.
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 685 KB
- Volume
- 64
- Category
- Article
- ISSN
- 0148-7299
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The study of the neurobehavioral consequences of mutations of FMR1, the gene responsible for fragile X syndrome (FraX), has been based largely on correlations between mutation patterns and cognitive profile. Following the characterization of FMRP, the FMR1 gene product, preliminary correlations betw
We report on a 15-year-old compound heterozygous young woman with fragile X syndrome who has a full mutation of 363 repeats on one X chromosome and a premutat i o n o f 1 0 3 r e p e a t s o n t h e o t h e r X chromosome. As predicted, subsequent testing demonstrated that her father carries a premu