Opposite deletions/duplications of the X chromosome: Two novel reciprocal rearrangements

Sabrina Giglio, Barbara Pirola, Giulia Arrigo, Paolo Dagrada, Barbara Bardoni, Franca Bernardi, Giovanni Russo, Luisa Argentiero, Antonino Forabosco, Romeo Carrozzo, Orsetta Zuffardi

Research output: Contribution to journalArticlepeer-review


Paralogous sequences on the same chromosome allow refolding of the chromosome into itself and homologous recombination. Recombinant chromosomes have microscopic or submicroscopic rearrangements according to the distance between repeats. Examples are the submicroscopic inversions of factor VIII, of the IDS gene and of the FLN1/emerin region, all resulting from misalignment of inverted repeats, and double recombination. Most of these inversions are of paternal origin possibly because the X chromosome at male meiosis is free to refold into itself for most of its length. We report on two de novo rearrangements of the X chromosome found in four hypogonadic females. Two of them had an X chromosome deleted for most of Xp and duplicated for a portion of Xq and two had the opposite rearrangement (class I and class II rearrangements, respectively). The breakpoints were defined at the level of contiguous YACs. The same Xp11.23 breakpoint was found in the four cases. That of the long arm coincided in three cases (Xq21.3) and was more proximal in case 4 (Xq21.1). Thus class I rearrangements (cases 1 and 2) are reciprocal to that of case 3, whilst that of case 4 shares only the Xp breakpoint. The abnormal X was paternal in the three cases investigated. Repeated inverted sequences located at the breakpoints of rearrangements are likely to favour the refolding of the paternal X chromosome and the recombination of the repeats. The repeat at the Xp11 may synapse with either that at Xq21.S or that at Xq21.1. These rearrangements seem to originate as the Xq28 submicroscopic inversions but they are identifiable at the microscopic level and result from a single recombination event.

Original languageEnglish
Pages (from-to)63-70
Number of pages8
JournalEuropean Journal of Human Genetics
Issue number1
Publication statusPublished - Jan 2000


  • Deletion/duplication
  • Homologous recombination
  • Repeated sequences
  • X chromosome

ASJC Scopus subject areas

  • Genetics(clinical)


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