Podcast
Questions and Answers
What is the underlying cause of structural chromosome abnormalities?
What is the underlying cause of structural chromosome abnormalities?
A partial deletion of a chromosome can result in which of the following, as seen in Cri-du-chat syndrome?
A partial deletion of a chromosome can result in which of the following, as seen in Cri-du-chat syndrome?
Which specific chromosome is affected by a partial deletion in Cri-du-chat syndrome?
Which specific chromosome is affected by a partial deletion in Cri-du-chat syndrome?
Which of the following is NOT a typical clinical feature of Cri-du-chat syndrome?
Which of the following is NOT a typical clinical feature of Cri-du-chat syndrome?
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Besides a cat-like cry and microcephaly, which other clinical feature is associated with Cri-du-chat syndrome?
Besides a cat-like cry and microcephaly, which other clinical feature is associated with Cri-du-chat syndrome?
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Study Notes
Structural Chromosome Abnormalities
- Structural abnormalities arise from a chromosome break, leading to a loss of a chromosome segment.
- Partial deletions can cause developmental problems, like in Cri-du-chat syndrome.
Cri-du-chat Syndrome
- Cause: A missing section on the short arm of chromosome 5.
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Clinical Features:
- Distinctive "cat-like" cry.
- Small head (microcephaly).
- Intellectual disability (mental retardation).
- Potential congenital heart defects.
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Description
This quiz explores structural chromosome abnormalities, focusing on their causes and implications. One such example is Cri-du-chat syndrome, characterized by a partial deletion on chromosome 5 and its associated clinical features. Test your knowledge on these crucial genetic concepts.
