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Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21. (http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/)
The extra chromosome 21 material may also occur due to a Robertsonian translocation in 2â4% cases. In this situation, the long arm of chromosome 21 is attached to another chromosome, often chromosome 14. In a male affected with Down syndrome, it results in a karyotype of 46XY,t(14q21q). This may be a new mutation or previously present in one of the parents.