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Genetic Disorders and Inheritance Quiz

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Questions and Answers

What are the causes of genetic diseases?

Alteration in DNA sequence (correct)

Mutations in non-coding regions of DNA

Epigenetic modifications

Changes in RNA structure

In genetic diseases, what does a 'de novo variant' refer to?

A mutation of the gametic cell that arose during its development (correct)

A mutation affecting all cells in an affected individual

A mutation of somatic cells in the parent

A mutation that occurred during early embryogenesis

What is the term for tissues of the affected individual containing a mixture of abnormal and normal cells due to variants arising during early embryogenesis?

Chimeric

Heterogeneous

Mosaic (correct)

Polymorphic

Which of the following is involved in causing genetic diseases?

Abnormalities during mitosis or meiosis (C) Signup and view all the answers

What is the consequence of structural rearrangements in genetic diseases?

Deletion or duplication of a group of closely linked genes (A) Signup and view all the answers

Which type of genetic disease is caused by abnormalities during mitosis or meiosis resulting in an abnormal number of chromosomes per cell?

Chromosomal disorder (B) Signup and view all the answers

In genetic diseases, what is the term for mutation of the gametic cell that may have arisen during its development, in which case somatic cells of the parent do not carry the variant?

Germline mutation (C) Signup and view all the answers

Which genetic disease may result in tissues of the affected individual containing a mixture, or mosaic, of abnormal and normal cells due to variants arising during early embryogenesis?

Turner syndrome (C) Signup and view all the answers

What type of genetic disease is caused by an alteration in DNA sequence that alters the synthesis of a single gene product?

Monogenic disorder (B) Signup and view all the answers

'Altered synthesis of a single gene product' is characteristic of which type of genetic disease?

Monogenic disorder (D) Signup and view all the answers