Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge

Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge

Abstract Background Uniparental disomy of certain chromosomes are associated with a group of well-known genetic syndromes referred to as imprinting disorders. However, the extreme form of uniparental disomy affecting the whole genome is usually not compatible with life, with the exception of very ra...

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Bibliographic Details
Main Authors: Susanne Bens, Manuel Luedeke, Tanja Richter, Melanie Graf, Julia Kolarova, Gotthold Barbi, Krisztian Lato, Thomas F. Barth, Reiner Siebert
Format: Article
Language:English
Published: BMC 2017-10-01
Series:Clinical Epigenetics
Subjects:
Genome-wide maternal uniparental disomy
Imprinting
Prenatal diagnostics
DNA methylation
Multilocus imprinting disturbances
Online Access:http://link.springer.com/article/10.1186/s13148-017-0410-y

Internet

http://link.springer.com/article/10.1186/s13148-017-0410-y

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