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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Clin Epigenetics
Main Authors: Bens, Susanne, Luedeke, Manuel, Richter, Tanja, Graf, Melanie, Kolarova, Julia, Barbi, Gotthold, Lato, Krisztian, Barth, Thomas F., Siebert, Reiner
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5640928/
https://ncbi.nlm.nih.gov/pubmed/29046733
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13148-017-0410-y
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados