Podcast
Questions and Answers
What is the underlying cause of structural chromosome abnormalities?
What is the underlying cause of structural chromosome abnormalities?
- Break causing a piece of a chromosome to be lost (correct)
- Inversion of a chromosome segment
- Gain of an extra chromosome
- Duplication of a chromosome segment
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?
- Observable abnormalities (correct)
- No discernible effect
- Gain of function
- Formation of completely normal cellular function
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?
- Chromosome 21
- Chromosome 5 (correct)
- Chromosome 13
- Chromosome 18
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?
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?
Flashcards
Structural Chromosome Abnormality
Structural Chromosome Abnormality
A type of chromosome abnormality where a piece of a chromosome is missing due to a break.
Cri-du-chat Syndrome
Cri-du-chat Syndrome
A syndrome caused by a partial deletion of the short arm of chromosome 5.
Cat-like Cry
Cat-like Cry
A distinctive cry in infants with Cri-du-chat syndrome, resembling a cat's meow.
Microcephaly
Microcephaly
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Mental Retardation
Mental Retardation
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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.
- Clinical Features:
- Distinctive "cat-like" cry.
- Small head (microcephaly).
- Intellectual disability (mental retardation).
- Potential congenital heart defects.
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