Chromosome Abnormalities and Cri-du-chat Syndrome

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Questions and Answers

What is the underlying genetic cause of Cri-du-chat syndrome?

Partial deletion of the short arm of chromosome 5 (correct)
Inversion of a segment on chromosome 5
Translocation of a segment from chromosome 5 to chromosome 14
Duplication of a segment on chromosome 5

Which of the following is NOT typically associated with Cri-du-chat syndrome?

High-pitched, cat-like cry
Intellectual disability
Congenital heart defects
Enlarged head circumference (correct)

If a chromosome suffers a deletion, what happens to the deleted piece?

It is attached to another chromosome.
It is lost, leading to partial monosomy. (correct)
The piece changes form, inverting, and reattaching to the same chromosome.
It duplicates its base pairs to form a new chromosome.

How many chromosomes are affected in Cri-du-chat Syndrome?

<p>Only Chromosome 5 (B)</p> Signup and view all the answers

Based on the provided information, what is the best description of the chromosome abnormality in Cri-du-chat syndrome?

<p>A partial deletion of one of the arms of chromosome 5. (C)</p> Signup and view all the answers

Flashcards

Cri-du-chat syndrome

A genetic disorder caused by a partial deletion of the short arm of chromosome 5.

Chromosome Deletion

A missing piece of genetic material on a chromosome.

Translocation

A condition where a part of one chromosome breaks off and attaches to another chromosome.

Karyotype

Also known as a chromosome map, a karyotype is a photograph of an individual's chromosomes arranged in pairs.

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Microcephaly

A medical term for an abnormally small head.

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Study Notes

Structural Chromosome Abnormalities

Some chromosome abnormalities occur due to missing parts of a chromosome. Cri-du-chat syndrome is one example.

Cri-du-chat Syndrome

Caused by a partial deletion of the short arm of chromosome 5.
Affected individuals exhibit a distinctive "cat-like" cry.
Other characteristics include microcephaly (small head size), mental retardation, and congenital heart disease.

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Description

This quiz explores structural chromosome abnormalities, focusing on Cri-du-chat syndrome, which results from a deletion on chromosome 5. Participants will learn about symptoms, characteristics, and impacts of this genetic condition, including the distinctive 'cat-like' cry and associated health issues.