Molecular screening for fragile X syndrome among Indonesian children with developmental disability
โ Scribed by Faradz, Sultana M.H.; Buckley, Michael; Tang, Lam-Po; Leigh, Don; Holden, Jeanette J.A.
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 3 KB
- Volume
- 83
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19990402)83:4<350::aid-ajmg26>3.0.co;2-g
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
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
In addition to moderate-to-severe mental retardation (MR), the fragile X [fra(X)] mutation produces significant impediments in speech and language. Severe delays in speech and language have been demonstrated in both adult males and young individuals with the fra(X) mutation. Having observed longitud
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