Abstract | Fragile X syndrome is a X-linked disorder first described by Lubs in 1969, being characterized by mental retardation, macro orchidism, big jaws and an inducible marder X chromosome. We have had about 1220 cases of mental retardation in our Genetic Clinics since 1981, 870 of them were screened for Fragile X studies. Out of these, 20 males and 4 females were found to be Fragile X positive (2.8%). This percentage is rather low comparing with reports on studies from other countries (average 10% to 20% of the mental retarded groups). |
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