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

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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1296287778

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

About this item

Full title

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

Publisher

United States: Public Library of Science

Journal title

PloS one, 2010-12, Vol.5 (12), p.e15244-e15244

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

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 i...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_1296287778

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1296287778

Other Identifiers

ISSN

1932-6203

E-ISSN

1932-6203

DOI

10.1371/journal.pone.0015244

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