The concurrence of Klinefelter syndrome and fragile X syndrome
โ Scribed by Fryns, Jean-Pierre ;Berghe, Herman Van Den
- Publisher
- John Wiley and Sons
- Year
- 1988
- Tongue
- English
- Weight
- 206 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
โฆ Synopsis
In this paper we report on a third patient with Klinefelter syndrome and fragile X. In the Leuven experience the simultaneous occurrence of both conditions is 1:155 (3 fra(X) positive Klinefelter patients in a total number of 465 fra(X) positive males), a concurrence much higher than expected by chance considering the frequency of both conditions.
๐ SIMILAR VOLUMES
## Abstract Fragile X syndrome, the most common genetic disorder associated with mental retardation is caused by an expansion of the unstable CGG repeat within the __FMR1__ gene. Although overgrowth is not the main hallmark of this condition, the fragile X syndrome is usually included in the differ
The much-quoted prevalence figure of 1:1,000 males for fragile X syndrome is an overestimate in a mixed ethnic population. A reexamination of the individuals from whom those data were derived using molecular diagnostic techniques demonstrates a more realistic figure of 1:4,000 males.