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Advanced NIPT - detecting unbalanced translocations
Originally published July 2017
What are chromosomal translocations?
Balanced reciprocal translocations are caused by a two-way exchange of genetic material between two chromosomes. As there is no net loss or gain of genetic material this exchange usually has no effect on the phenotype of the carrier.
However, carriers of balanced translocations are at an increased chance of passing on an unbalanced form of the chromosomal rearrangement at conception, resulting in genetic material being lost and/or gained. This can lead to sub-fertility, recurrent miscarriages, or more rarely the birth of a child with an intellectual disability and congenital malformations (1).
Unbalanced translocation with large genetic imbalances are more likely to cause infertility or recurrent miscarriage, while those with small imbalances have the highest chance of live birth associated with congenital abnormalities.
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