Segregation of the fragile X mutation fr
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Kambouris, Marios; Snow, Karen; Thibodeau, Stephen; Bluhm, Denise; Green, Michae
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Article
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1996
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John Wiley and Sons
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English
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Fragile X syndrome is associated with an unstable CGG-repeat in the FMR-1 gene. There are few reports of affected males transmitting the FMR-1 gene to offspring. We report on a family in which the propositus and his twin sister each had a full mutation with abnormal methylation. Their mother had an