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Chromosomal Abnormalities in Genetics

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Questions and Answers

Which mode of segregation will yield normal or balanced gametes in a balanced translocation carrier?

3:1 segregation

1:1 adjacent segregation

2:2 alternate segregation (correct)

4:0 segregation

What factor does NOT influence the segregation outcomes for balanced translocation carriers?

Relative size of chromosomes involved

Location of the breakpoints

Proximity to the centromere

Absolute length of chromosomes (correct)

In a karyotype, which inversion is particularly challenging to detect?

Isocromosome of chromosome 17

Recombinant chromosome involving chromosome 7

Pericentric inversion involving chromosome 3

Paracentric inversion on chromosome 16 (correct)

What does the term 'stemline' refer to in oncology nomenclature?

The most basic clone of a tumor cell population Signup and view all the answers

Which of the following is NOT a structural abnormality mentioned?

Chromatid exchanges Signup and view all the answers

What is a potential consequence of balanced chromosomal rearrangements?

They may disrupt gene expression through breakpoints. Signup and view all the answers

Which type of inversion involves the centromere being included in the inverted segment?

Pericentric inversion Signup and view all the answers

What is the risk for a constitutional carrier of a translocation to have a liveborn child with a congenital anomaly?

0-30% Signup and view all the answers

What does the notation 't(9;22)(q34;q11.2)' indicate?

A reciprocal translocation involving chromosomes 9 and 22. Signup and view all the answers

Which of the following best describes the structural abnormality known as isochromosomes?

Chromosomes with two identical arms resulting from a transverse division. Signup and view all the answers