While taking their daily walk, the nurse is asked by a neighbor what centric fusion (robertsonian) translocation means. She tells you that a family member has been diagnosed with this and is now afraid to have children. Given this diagnosis, what may be potential risks for her offspring?

Question

Quizplus · Accepted Answer

In centric fusion or robertsonian translocation, the break occurs near the centromere affecting the short arm in one chromosome (13 and 14 or 14 and 21 most commonly). The short fragment is usually lost during subsequent divisions. In this case, the person has only 45 chromosomes, but the amount of genetic material lost is small. Difficulty arises during meiosis. The chief clinical significance arises when the translocation carriers involve chromosome 21, which may produce a child with Down syndrome.

While Taking Their Daily Walk, the Nurse Is Asked by a Neighbor