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Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations

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Summary

The hypothesis of germinal mosaicism in the unaffected mother of two half-sisters affected with Rett syndrome is postulated to explain the unusual recurrence of this genetic disorder affecting only females (1/10000); it might be caused by new X-linked mutations with lethality in male fetuses. The analysis of 34 X-linked restriction fragment length polymorphisms (RFLPs) in these two affected females and in their unaffected mother and half-brother, together with the reconstruction of phase for 15 informative RFLPs in somatic cell hybrids retaining a single X chromosome from each female, has made it possible to exclude some regions of the X chromosome as possible sites of the mutation(s) causing Rett syndrome.

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Archidiacono, N., Lerone, M., Rocchi, M. et al. Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations. Hum Genet 86, 604–606 (1991). https://doi.org/10.1007/BF00201549

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  • DOI: https://doi.org/10.1007/BF00201549

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