5 Questions
Which of the following is NOT a cause of genetic diseases?
Normal development of gametes
In most genetic diseases, every cell in an affected individual carries the mutated gene due to:
Inheritance via a mutant egg or sperm cell
What term is used to describe an affected individual who has a 'de novo variant'?
Somatic mosaic
Which type of mutation occurs during early embryogenesis?
Somatic mutation
What do structural rearrangements in genetic diseases result in?
Deletion or duplication of a group of closely linked genes
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, and identify the key differences between types of osteogenesis imperfecta.
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