Article
Fragile-X mutation and Klinefelter syndrome: a reappraisal.
American journal of medical genetics - 1 Jan 2000
Filippi G, Pecile V, Rinaldi A, Siniscalco M
Abstract excerpt
To date the concurrent presence of the fragile-X and the Klinefelter syndromes in the same individual has been found at least 8 times either in the course of screening for the fra(X) condition in mentally retarded males or among the relatives of fra(X) propositi. Given the high frequency of both events in the general population and the heterogeneous approaches with which the above cases were ascertained, it has...
Topics
- Adult
- Female
- Fragile X Syndrome
- Genetic Markers
- Humans
- Klinefelter Syndrome
- Male
- Meiosis
- Mutation
- Sex Chromosome Aberrations
- Testis