Question 1

Which of the following is a primary indication for performing chromosome analysis in a clinical setting?

Accepted Answer

A person with an unrecognizable pattern of two or more malformations

Question 2

The Philadelphia chromosome is most commonly associated with which disease?

Accepted Answer

Chronic myelogenous leukemia

Question 3

A reciprocal translocation between chromosomes 9 and 22 results in which of the following chromosomal aberrations?

Accepted Answer

$$t(9;22)(q34;q11)$$

Question 4

Which gene is moved from its normal position on chromosome 9 to chromosome 22 in the Philadelphia chromosome translocation?

Accepted Answer

ABL

Question 5

What is the clinical significance of identifying the Philadelphia chromosome in a patient with leukemia?

Accepted Answer

It allows for targeted therapy against the abnormal tyrosine kinase produced by the ABL gene fusion.

Question 6

Which of the following chromosomal changes is most commonly observed in Burkitt lymphoma?

Accepted Answer

$$t(8;14)(q24;q32)$$

Question 7

A female patient presents with short stature and primary amenorrhea. Which chromosomal analysis should be considered?

Accepted Answer

Turner syndrome analysis

Question 8

Which of the following best describes a reciprocal translocation?

Accepted Answer

A segment from one chromosome is exchanged with a segment from another chromosome.

Question 9

The identification of which chromosomal abnormality is most useful for targeted therapy in chronic myelogenous leukemia?

Accepted Answer

$$t(9;22)(q34;q11)$$

Question 10

Which of the following is NOT a typical indication for chromosome analysis?

Accepted Answer

Adults with mild seasonal allergies

Question 11

A patient with a solid tumor is found to have $$del(13)(q14). $$Which tumor is this most likely associated with?

Accepted Answer

Retinoblastoma

Question 12

Which of the following best explains why the Philadelphia chromosome was initially thought to be a deletion?

Accepted Answer

The net effect is a smaller chromosome 22.

Question 13

Which of the following chromosomal aberrations is most commonly observed in acute promyelocytic leukemia?

Accepted Answer

$$t(15;17)(q22;q21-12)$$

Question 14

A reciprocal translocation involving chromosomes 8 and 14 is most likely to activate which gene, leading to malignancy?

Accepted Answer

MYC

Question 15

Which of the following is a direct result of the ABL gene product in the Philadelphia chromosome?

Accepted Answer

Increased tyrosine kinase activity

Question 16

Which chromosomal abnormality is most commonly associated with meningioma?

Accepted Answer

Monosomy 22

Question 17

Which of the following best describes the clinical utility of cytogenetic analysis in cancer?

Accepted Answer

It helps identify chromosomal changes that can guide prognosis and therapy.

Clinical Cytogenetics: The Chromosomal Basis of Human Disease

Study Guide - Practice Questions