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Questions and Answers
Which of the following is NOT a cause of genetic diseases?
Which of the following is NOT a cause of genetic diseases?
- Alteration in DNA sequence that alters the synthesis of a single gene product
- Structural rearrangements that result in deletion or duplication of a group of closely linked genes
- Normal development of gametes (correct)
- Abnormalities during mitosis or meiosis that result in an abnormal number of chromosomes per cell
In most genetic diseases, every cell in an affected individual carries the mutated gene due to:
In most genetic diseases, every cell in an affected individual carries the mutated gene due to:
- Mutation during early embryogenesis
- Inheritance via a mutant egg or sperm cell (correct)
- Mutation of somatic cells during development
- Presence of a mixture of abnormal and normal cells
What term is used to describe an affected individual who has a 'de novo variant'?
What term is used to describe an affected individual who has a 'de novo variant'?
- Variant carrier
- Gametic mutant
- Somatic mosaic (correct)
- Genetic de novo
Which type of mutation occurs during early embryogenesis?
Which type of mutation occurs during early embryogenesis?
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What do structural rearrangements in genetic diseases result in?
What do structural rearrangements in genetic diseases result in?
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