Duplications of the X chromosome in males: evidence that most parts of the X chromosome can be active in two copies

Malgorzata Schmidt, Desirée Du Sart, Paul Kalitsis, Margaret Leversha, Sue Dale, Leslie Sheffield, Daniela Toniolo

Research output: Contribution to journalArticlepeer-review

Abstract

We have analysed two duplications of the X chromosome in male patients using chromosome replication and DNA methylation patterns as determinants of the functional status of the duplicated segments. In both cases, the large duplicated regions, Xq12-q22 and Xq26.3-qter, were not inactivated. A review of previously reported male cases revealed that these duplications were also not subject to inactivation. Taken together, the examined duplications cover almost the entire X chromosome except the pericentromeric region and Xq25–26. Thus, most regions of the X chromosome can be present in two functional copies without lethal consequences.

Original languageEnglish
Pages (from-to)519-521
Number of pages3
JournalHuman Genetics
Volume86
Issue number5
DOIs
Publication statusPublished - 1991

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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