Duplications of the X chromosome in males: evidence that most parts of the X chromosome can be active in two copies |
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Authors: | Malgorzata Schmidt Desirée Du Sart Paul Kalitsis Margaret Leversha Sue Dale Leslie Sheffield Daniela Toniolo |
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Affiliation: | (1) Murdoch Institute, VCGS, Royal Children's Hospital, Flemington Road, 3052 Melbourne, Australia;(2) Consiglio Nazionale delle Ricerche, Institute di Genetica Biochimica ed Evoluzionistica, Via Abbiategrasso, 207 I-27100, Pavia, Italy |
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Abstract: | Summary 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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