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 language | English |
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Pages (from-to) | 519-521 |
Number of pages | 3 |
Journal | Human Genetics |
Volume | 86 |
Issue number | 5 |
DOIs | |
Publication status | Published - 1991 |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)