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

Autor: Schmidt, Malgorzata, Sart, Desirée, Kalitsis, Paul, Leversha, Margaret, Dale, Sue, Sheffield, Leslie, Toniolo, Daniela
Zdroj: Human Genetics; 1991, Vol. 86 Issue 5, p519-521, 3p
Abstrakt: 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. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
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