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- Fragile X syndrome The fragile X, or Martin Bell, syndrome is the most common single recognized form of inherited mental retardation. Fifty per cent of all X-linked mental retardation (XLMR) may be attributable to the fragile X syndrome. The disorder is found in all ethnic groupings with a frequency of 0.3-1 per 1000 in males and 0.2-0.6 per 1000 in females. The full clinical syndrome, which is found in approximately 60% of affected males, consists of moderate mental retardation with an IQ typically in the range 35 to 50, elongated facies with large everted ears, and macro-orchidism. The syndrome is unusual in that it is associated with the appearance of a fragile site on the long arm of the X- chromosome at Xq27.3 [1,2]. This can be visualized cytogenetically in metaphase chromosomes prepared from lymphocytes of affected individuals which have been cultured under conditions of folate deficiency or thymidine stress (Fig. F7). The study of the segregation of polymorphic markers within fragile X families has confirmed that the mutation lies in the same region of the X-chromosome as that exhibiting cytogenetic fragility.
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