Question

Which type of structural chromosomal abnormality results in the permanent loss of a chromosomal segment?

Options

• Inversion

• Duplication

• Translocation

• Deletion

Answer 1

Deletion is a structural chromosomal abnormality in which a chromosomal segment is lost permanently. An example is Cri-du-chat syndrome, which results from a deletion on the short arm of chromosome 5 (5p). Loss of genes due to deletion typically causes severe developmental effects and loss of essential genetic material.