A member asked:

What could cause trisomy 21? other than translocation? and maternal age?

4 doctors weighed in across 2 answers

Non disjunction: The cause is an error in the separation of the 21 chromosomes in the formation of the egg.Instead of one, two remain in the egg which becomes 3 after fertilization. It can happen at any age and can happen with other chromosomes. Why it happens is unclear, but it can happen at any maternal age (even 16). It just begins increasing in frequency as a girl ages.

Answered 9/9/2013

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Nondisjunction risk: You mentioned the two known risk factors for trisomy 21. Increasing maternal age has an increased risk of nondisjunction (the failure of homologous chromosomes to separate during and after meiosis). This leads to an extra copy of chromosome 21 in the egg. There are probably genetic mutations that lead to increased nondisjunction, but these have not been discovered yet.

Answered 8/26/2013

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