X-linked premature ovarian failure: a complex disease

Daniela Toniolo

Research output: Contribution to journalArticlepeer-review


Involvement of the X chromosome in premature ovarian failure was demonstrated by the relatively frequent chromosomal rearrangements in patients, but the requirement of two X chromosomes for ovarian function was quite unexplained until recently. Review of the data on chromosomal rearrangements suggests that several genes along the X chromosomes contribute to ovarian function. In most instances, no single X chromosome gene has a causative role in premature ovarian failure, and the phenotype is likely to derive from the additive effect of X-linked and non-X-linked factors. Recent data on a small group of balanced X-autosome translocations showed that X-linked premature ovarian failure might also be caused by a different mechanism, namely position effect of the X chromosome on non-X-linked genes, and suggest a peculiar organization of the X chromosome during oogenesis.

Original languageEnglish
Pages (from-to)293-300
Number of pages8
JournalCurrent Opinion in Genetics and Development
Issue number3
Publication statusPublished - Jun 2006

ASJC Scopus subject areas

  • Genetics


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