Genetic Disorders and Pathophysiology Quiz

Abnormalities during mitosis or meiosis causing an abnormal number of chromosomes per cell

Alteration in DNA sequence affecting a single gene product (correct)

Mutation of the gametic cell during embryogenesis

Structural rearrangements resulting in deletion or duplication of closely linked genes

Mutation of the somatic cells of the affected individual

Mutation of the gametic cell during early embryogenesis

Mutation of the gametic cell during its development (correct)

Mutation of the somatic cells of the parent

Every cell in the affected individual carries the mutated gene due to inheritance via a mutant egg or sperm cell

Tissues contain a mixture of abnormal and normal cells due to variants arising during early embryogenesis (correct)

Mutation of the somatic cells results in abnormal tissues in the affected individual

Somatic cells of the parent do not carry the variant, and the affected individual is said to have a 'de novo variant'

<p>Alteration in DNA sequence affecting a single gene product</p> Signup and view all the answers

<p>Inheritance via a mutant egg or sperm cell (gamete)</p> Signup and view all the answers