Chromosomal rearrangements in Xq and premature ovarian failure: Mapping of 25 new cases and review of the literature

Flavio Rizzolio, Silvia Bione, Cinzia Sala, Mara Goegan, Mattia Gentile, Giuliana Gregato, Elena Rossi, Tiziano Pramparo, Orsetta Zuffardi, Daniela Toniolo

Research output: Contribution to journalArticlepeer-review


Background: Chromosomal rearrangements in Xq are frequently associated with premature ovarian failure (POF) and have defined a POF 'critical region'. Search for genes responsible for the disorder has been elusive. Methods: We report mapping of novel breakpoints of X;autosome-balanced translocations and interstitial deletions and a review of published X chromosome rearrangements. Results: All the novel POF-associated rearrangements were mapped outside and often very distant from genes. The majority mapped to a gene-poor region in Xq21. In the same region, deletions were reported in women who apparently did not have problems conceiving. Expression analysis of genes flanking breakpoints clustered in a 2-Mb region of Xq21 failed to demonstrate ovary-specific genes. Conclusions: Our results excluded most of the possible explanations for the POF phenotype and suggested that POF should be ascribed to a position effect of the breakpoints on flanking genes. We also showed that while the X breakpoint may affect X-linked genes in the distal part of Xq, from Xq23 to Xq28, interruption of the critical region in Xq21 could be explained by a position effect of the Xq critical region on genes flanking the autosomal breakpoints.

Original languageEnglish
Pages (from-to)1477-1483
Number of pages7
JournalHuman Reproduction
Issue number6
Publication statusPublished - Jun 2006


  • Chromosome rearrangements
  • Gene mapping
  • Premature ovarian failure
  • Xq

ASJC Scopus subject areas

  • Physiology
  • Developmental Biology
  • Obstetrics and Gynaecology
  • Reproductive Medicine


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