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

N. Archidiacono, M. Lerone, M. Rocchi, M. Anvret, T. Ozcelik, U. Francke, G. Romeo

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)604-606
Number of pages3
JournalHuman Genetics
Volume86
Issue number6
DOIs
Publication statusPublished - 1991

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations'. Together they form a unique fingerprint.

  • Cite this