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Article

[Mutations in the methylene-tetrahydrofolate reductase gene and Down syndrome].

Cadernos de saude publica - 1 Jan 2000

Grillo Laura Brunelli das Neves, Acácio Gregório Lorenzo, Barini Ricardo, Pinto Walter, Bertuzzo Carmen Silvia

Abstract excerpt

Down syndrome (DS) 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...

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Source

Identifiers

PMID: 12488908
DOI: 10.1590/s0102-311x2002000600035

Genes

MTHFR

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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