NCBI » Bookshelf » An Introduction to Genetic Analysis » Chromosome Mutation I: Changes in Chromosome Structure » Translocations

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Figure 17-27

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How Down syndrome arises in the children of an unaffected carrier of a special type of translocation, called a Robertsonian translocation, in which the long arms of two acrocentric chromosomes have fused. The specific Robertsonian translocation in translocation Down syndrome is between the Down syndrome chromosome 21 and chromosome 14. Translocation Down syndrome accounts for less than 5% of cases.