Fragile-X mutation and Klinefelter syndrome: A reappraisal

G. Filippi, V. Pecile, A. Rinaldi, M. Siniscalco

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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 not been possible to determine unequivocally so far whether the finding is purely coincidental or the expression of some underlying biological relationship. To evaluate the issue, we have screened a large population of institutionalized mentally retarded males for microorchidism, and submitted to a full karyotype analysis and fra(X) testing the patients that were found to have marked bilateral microorchidism. Thus, in a total of 32 microorchidism patients identified among 1115 mentally retarded males, we found 6 to have a 47,XXY chromosome complement in all (or in most) of their cells, with one of them having also the fra(X) marker in 9% of the metaphases examined.

Original languageEnglish
Pages (from-to)99-107
Number of pages9
JournalAmerican Journal of Medical Genetics
Issue number1-2
Publication statusPublished - 1988

ASJC Scopus subject areas

  • Genetics(clinical)


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