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Article

Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects.

European journal of human genetics : EJHG - 1 Apr 2013

Arélin Maria, Schulze Bernt, Müller-Myhsok Bertram, Horn Denise, Diers Alexander, Uhlenberg Birgit, Nürnberg Peter, Nürnberg Gudrun, Becker Christian, Mundlos Stefan, Lindner Tom H, Sperling Karl, Hoffmann Katrin

Abstract excerpt

Genome-wide linkage analysis is an established tool to map inherited diseases. To our knowledge it has not been used in prenatal diagnostics of any genetic disorder. We present a family with a severe recessive mental retardation syndrome, where the mother wished pregnancy termination to avoid del...

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Identifiers

PMID: 23032112
DOI: 10.1038/ejhg.2012.198
PMCID: PMC3598323

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23032112-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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