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Article

Epigenetic-genetic chromosome dosage approach for fetal trisomy 21 detection using an autosomal genetic reference marker.

PloS one - 20 Dec 2010

Tong Yu K, Chiu Rossa W K, Akolekar Ranjit, Leung Tak Y, Lau Tze K, Nicolaides Kypros H, Lo Y M Dennis

Abstract excerpt

BACKGROUND: The putative promoter of the holocarboxylase synthetase (HLCS) gene on chromosome 21 is hypermethylated in placental tissues and could be detected as a fetal-specific DNA marker in maternal plasma. Detection of fetal trisomy 21 (T21) has been demonstrated by an epigenetic-genetic chromosome dosage approach where the amount of hypermethylated HLCS in maternal plasma is normalized using a fetal genetic...

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Source

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Identifiers

PMID: 21249119
DOI: 10.1371/journal.pone.0015244
PMCID: PMC3004793

Genes

HLCS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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