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- W3110163082 abstract "Prenatal detection of uniparental disomy (UPD) is a methodological challenge, and a positive testing result requires comprehensive considerations on the clinical consequences as well as ethical issues. Whereas prenatal testing for UPD in families which are prone to UPD formation (e.g., in case of chromosomal variants, imprinting disorders) is often embedded in genetic counselling, the incidental identification of UPD is often more difficult to manage. With the increasing application of high-resolution test systems enabling the identification of UPD, an increase in pregnancies with incidental detection of UPD can be expected. This paper will cover the current knowledge on uniparental disomies, their clinical consequences with focus on prenatal testing, genetic aspects and predispositions, genetic counselling, as well as methods (conventional tests and high-throughput assays)." @default.
- W3110163082 created "2020-12-07" @default.
- W3110163082 creator A5022079984 @default.
- W3110163082 date "2020-12-03" @default.
- W3110163082 modified "2023-10-14" @default.
- W3110163082 title "Prenatal Detection of Uniparental Disomies (UPD): Intended and Incidental Finding in the Era of Next Generation Genomics" @default.
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- W3110163082 doi "https://doi.org/10.3390/genes11121454" @default.
- W3110163082 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7761756" @default.
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