Abstract
Generally, UPD is diagnosed in clinically abnormal persons. Molecular diagnostics is most often done in a targeted way based on the patient’s phenotype. UPD diagnostics also may be the logical consequence of a cytogenetic finding. In this chapter, the possibilities and means of UPD diagnostics, the personal experiences of some patients who were diagnosed with UPD, and a brief discussion on UPD in genetic counseling are provided.
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© 2014 Springer-Verlag Berlin Heidelberg
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Liehr, T. (2014). UPD in Diagnostics and Genetic Counseling. In: Uniparental Disomy (UPD) in Clinical Genetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-55288-5_3
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DOI: https://doi.org/10.1007/978-3-642-55288-5_3
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Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-55287-8
Online ISBN: 978-3-642-55288-5
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