What is it about?
For the first time, we have demonstrated the relationship between MCM9 gene polymorphisms and a lack of recombination as a risk factor for chromosome 21 nondisjunction during meiosis I, and this relationship is irrespective of maternal age.
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Why is it important?
These findings significantly advance our knowledge of the molecular mechanisms underlying the chromosome 21 nondisjunction recombination errors that result in the birth of a child with Down syndrome.
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This page is a summary of: The etiology of Down syndrome: Maternal MCM9 polymorphisms increase risk of reduced recombination and nondisjunction of chromosome 21 during meiosis I within oocyte, PLoS Genetics, March 2021, PLOS, DOI: 10.1371/journal.pgen.1009462.
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