Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow

We report on the validation and implementation of the HumanCytoSNP-12 array (Illumina) (HCS) in prenatal diagnosis. In total, 64 samples were used to validate the Illumina platform (20 with a known (sub) microscopic chromosome abnormality, 5 with known maternal cell contamination (MCC) and 39 normal...

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Detalhes bibliográficos
Main Authors: Srebniak, Malgorzata, Boter, Marjan, Oudesluijs, Grétel, Joosten, Marieke, Govaerts, Lutgarde, Van Opstal, Diane, Galjaard, Robert-Jan H
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3230359/
https://ncbi.nlm.nih.gov/pubmed/21694736
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.119
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