Abstract
Unbalanced translocation is a type of chromosomal abnormality where a portion of one
chromosome is attached to another chromosome, resulting in an imbalance in the genetic
material. This can lead to adverse pregnancy outcomes in the form of recurrent pregnancy
loss, developmental problems, or major structural anomalies, depending on the specific
chromosomes and regions involved. This can happen de novo during gametogenesis or
it can be inherited from a parent who carries a balanced translocation. For a couple
where one partner is a carrier of balanced translocation, there is a need for a detailed
genetic counseling regarding the ideal test to be done for diagnosis, options of assisted
reproduction, and limitations of these tests. We aim to highlight these aspects through
two case illustrations: a first couple who were carriers of balanced translocation
and a second couple who had normal tests.
Keywords
balanced translocation - unbalanced translocation - genetic testing - genetic counseling
- prenatal invasive testing
