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Article

Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome.

American journal of human genetics - 1 Sept 2000

Hobbs C A, Sherman S L, Yi P, Hopkins S E, Torfs C P, Hine R J, Pogribna M, Rozen R, James S J

Abstract excerpt

Down syndrome is a complex genetic and metabolic disorder attributed to the presence of three copies of chromosome 21. The extra chromosome derives from the mother in 93% of cases and is due to abnormal chromosome segregation during meiosis (nondisjunction). Except for advanced age at conception, maternal risk factors for meiotic nondisjunction are not well established. A recent preliminary study suggested that...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 10930360
DOI: 10.1086/303055
PMCID: PMC1287522

Genes

MTHFR
MTRR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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