Article
Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations.
Human genetics - 1 Apr 1991
Archidiacono N, Lerone M, Rocchi M, Anvret M, Ozcelik T, Francke U, Romeo G
Abstract excerpt
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 (1/10,000); 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...
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