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During the course of a population study of non-specific mental retardation in school-age males, a 13-year-old boy was ascertained. Cytogenetic studies revealed the presence of a fragile site at chromosome 22. The site was found to be both folate-dependent and heritable. The possibility that the presence of this fragile site is linked to mental retardation is discussed.
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Webb et al. (1984) studied this question.
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