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Article

SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations.

European journal of human genetics : EJHG - 1 Sept 2012

van Uum Chris M J, Stevens Servi J C, Dreesen Joseph C F M, Drüsedau Marion, Smeets Hubert J, Hollanders-Crombach Bertien, Die-Smulders Christine E M de, Geraedts Joep P M, Engelen John J M, Coonen Edith

Abstract excerpt

Preimplantation genetic diagnosis (PGD) for chromosomal rearrangements (CR) is mainly based on fluorescence in situ hybridisation (FISH). Application of this technique is limited by the number of available fluorochromes, the extensive preclinical work-up and technical and interpretative artefacts. We aimed to develop a universal, off-the-shelf protocol for PGD by combining single-nucleotide polymorphism (SNP)...

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Identifiers

PMID: 22378284
DOI: 10.1038/ejhg.2012.27
PMCID: PMC3421116

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PGD

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