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Trends Genet. 2005 May;21(5):249-53.

Transcriptional consequences of autosomal trisomy: primary gene dosage with complex downstream effects.

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  • MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK. david.fitzpatrick@hgu.mrc.ac.uk


Autosomal trisomy is a common cause of human miscarriage, malformations and learning disability. Primary gene-dosage effects have been confirmed by recent transcriptome analyses. The importance (or existence) of trans-acting effects on disomic genes remains, surprisingly, controversial. In this article, I propose a model of the main genetic mechanisms that are responsible for producing the transcriptional derangement associated with trisomy. This has implications for future study design.

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