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

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 rare cases...

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Detalles Bibliográficos
Autores principales: Bens, Susanne, Luedeke, Manuel, Richter, Tanja, Graf, Melanie, Kolarova, Julia, Barbi, Gotthold, Lato, Krisztian, Barth, Thomas F., Siebert, Reiner
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5640928/
https://www.ncbi.nlm.nih.gov/pubmed/29046733
http://dx.doi.org/10.1186/s13148-017-0410-y

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