10 Questions
What are the causes of genetic diseases?
Alteration in DNA sequence
In genetic diseases, what does a 'de novo variant' refer to?
A mutation of the gametic cell that arose during its development
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?
Mosaic
Which of the following is involved in causing genetic diseases?
Abnormalities during mitosis or meiosis
What is the consequence of structural rearrangements in genetic diseases?
Deletion or duplication of a group of closely linked genes
Which type of genetic disease is caused by abnormalities during mitosis or meiosis resulting in an abnormal number of chromosomes per cell?
Chromosomal disorder
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
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
What type of genetic disease is caused by an alteration in DNA sequence that alters the synthesis of a single gene product?
Monogenic disorder
'Altered synthesis of a single gene product' is characteristic of which type of genetic disease?
Monogenic disorder
Test your knowledge of genetic disorders and patterns of inheritance with this quiz. Learn about the main pathophysiologic pathways involved in PKU and fragile X syndrome, as well as the differences between types of osteogenesis imperfecta.
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