Fragile X frequency in a mentally retarded population in Brazil

Seventy-five male and 50 female students from 2 special schools for mildly, moderately retarded, or borderline individuals were screened clinically and cytogenetically in order to estimate the contribution of fragile X [fra(X)] syndrome to the cause of mental retardation in Brazil. We found 6 males (8%) from 4 families and 2 unrelated females (4%) with fra(X) chromosomes. One male and one female were isolated cases. The estimated frequency of Martin-Bell [fra(X)] syndrome among mentally impaired individuals in Brazil was similar to that previously reported in other countries.