Cytogenetic contribution to uniparental disomy (UPD)

@inproceedings{Liehr2010CytogeneticCT,
  title={Cytogenetic contribution to uniparental disomy (UPD)},
  author={Thomas Liehr},
  booktitle={Molecular Cytogenetics},
  year={2010}
}
Uniparental disomy (UPD) is often considered as an event to be characterized exclusively by molecular genetic or epigenetic approaches. This review shows that at least one third of UPD cases emerge in connection with or due to a chromosomal rearrangement. Thus, additional (molecular) cytogenetic characterization of UPD cases is essential. Up to now > 1,100 UPD cases detected in clinical, non-tumor cases are reported in the literature. Recently, these cases were summarized in a regularly updated… CONTINUE READING

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