Neurofibromatosis and fragile-X syndrome in the same patient
β Scribed by Mitchell, Joyce A. ;Wray, Jane ;Michalski, Karen ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1985
- Tongue
- English
- Weight
- 307 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
However, these patients did not have ear anomalies, anal lesions, or deafness suggestive of TBS or PS. Because PS is thought to be heterogeneous, the occurrence of the two syndromes together may constitute a contiguous gene syndrome in this particular case.
The -in vitro folate sensitivity of t h e fragile s i t e a t Xq27 and t h e claims of a beneficial response of patients given folic acid prompted us to examine t h e folate metabolism in cells cultured from fragile X syndrome patients and carriers. Using Epstein-Barr virus we established permanent
In this article, we describe the language and communication problems of individuals with fragile X syndrome (FXS). FXS is a common genetic disorder resulting from a single-gene mutation on the X chromosome. It is associated with a wide spectrum of physical, behavioral, cognitive, and language proble