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. 1991 Mar;86(5):519-21.
doi: 10.1007/BF00194646.

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

M Schmidt  1 , D Du Sart, P Kalitsis, M Leversha, S Dale, L Sheffield, D Toniolo
Affiliations

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

M Schmidt et al. Hum Genet. 1991 Mar.

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.

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