No evidence of paternal transmission of fragile X syndrome
β Scribed by Doris Steinbach; Peter Steinbach
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 39 KB
- Volume
- 136A
- Category
- Article
- ISSN
- 1552-4825
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π SIMILAR VOLUMES
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.
The publication of 2 studies in this issueoftheJourna1 [Fisch, 1992; Reiss and Freund, 19921 on the relationship between the fragile X [fra(X)] and autistic syndromes provides an appropriate time to review the continuing debate about whether or not there is a relationshipbetween these 2 syndromes.
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 cha