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Balanced reciprocal translocations

A common balanced reciprocal translocation is the exchange of material between chromosome 11 and 22. Individuals with this chromosomal abnormality do not experience any phenotypic effects but are subject to issues with fertility since carriers of balanced reciprocal translocations may create gametes with unbalanced reciprocal or nonreciprocal chromosome translocations. The combination of the carrier’s gamete with the wild type gamete from the other parent may result in duplication or deletion of genetic material based on segregation of chromosomes during meiosis. This can lead to infertility, miscarriages or children with abnormalities. Genetic counselling and genetic testing are often offered to families that may carry a translocation. A common example of a birth defect that may result from the carrier of the translocation mentioned above is Emanuel Syndrome.