Browsing by Author "Ahmad, M D"
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Item Genetic analysis of fragile X-syndrome.(2000-05-24) Badaruddoza,; Shadab, G G; Afzal, M; Ahmad, M DFragile X-syndrome is the most common inherited cause of mental retardation. The key clinical features of the fragile X-syndrome in males are mental retardation, a long face with large everted ears and large testes. The disorder is associated with a visible fragile site at Xq27.3 at FMR-1 loucs with the amplification of (CGC) n repeat sequence. The early diagnosis of affected individuals are carriers who are not aware of their high risk of having an affected child is important for proper management and counselling.