2002
DOI: 10.1590/s0102-311x2002000600035
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Abstract: 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 that abnormal folate metabolism and the 677 (C-->T) mutation in the methylene-tetrahydrofolate reduc… Show more

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