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A translocation between chromosomes resulting in the gain or loss of genetic material, likely resulting in a chromosomal condition.

Use in clinical context

Translocations originate as balanced translocations. Due to random assortment during meiosis, a balanced translocation may not be passed onto offspring in the same way and can become unbalanced. This can have implications for protein production with phenotypic consequences.

It is possible to see large translocations using a karyotype. Smaller translocations can be detected using microarrays and sequencing.

Last updated on 15th December, 2021