Depending on the aims of the study, often these individuals are not eliminated from the study due to sex chromosome anomalies alone. Even in carefully collected samples, the numbers of samples with discrepant self-reported sex having a normal karyotype is appreciable, and sample processing pipelines need to have these checks in place to detect such potential sample swaps. While it may be possible to go back to the original data to reconcile chromosomal anomalies found using genetic data, researchers need to be aware of any ethical issues that may arise concerning return of results, and these issues should be considered and resolved prior to revisiting the EMR.
