Pre-Assessment Review: Cytogenetics

Dr. Gail Vance

1. A proto-oncogene may be activated by any one of the following mechanisms except:

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a. Chromosome rearrangement resulting in a chimeric protein

b. Gene amplification c. Loss of the gene due to a chromosomal deletion d. Placing it under the control of another promoter e. Point mutation of the gene

2. The Philadelphia chromosome is most often associated with:

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a. Follicular lymphoma b. Burkitt’s lymphoma c. Down syndrome d. Acute lymphoblastic leukemia e. Chronic myelogenous leukemia

3. Which of the following procedures is used as a routine technique for karyotyping using light microscopy?

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a. C-banding b. G-banding c. Q-banding d. NOR-staining e. Fluorescence in situ hybridization (FISH)

4. Which of the following rearrangements is characteristic for anaplastic large cell lymphoma involving the ALK gene?

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a. t(9;22)(q34;q11.2) b. t(2;5)(p23;q35) c. t(16;16)(p13.1;q22) d. inv(3)(q21q26.2) e. t(9;11)(p22;q23)

5. Comparative Genomic Hybridization Arrays will detect all of the following rearrangements except:

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a. Deletion b. Inversion c. Duplication d. Trisomy e. Monosomy

6. Which of the following FAB/WHO pairings is incorrect?

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a. FAB M3 = AML with t(15;17)(q22;q21) b. FAB M4 EO = AML with dup(16)(p13.1q22) c. FAB M2 = AML with t(8;21)(q22;q22) d. FAB M4 = AML with 11q23 abnormalities e. FAB M5 = AML with 11q23 abnormalities

7. All of the following are mechanisms for numerical chromosomal errors except:

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a. Neocentromere b. Non-disjunction c. Inheritance from a parent d. Anaphase lag e. Abnormal spindle protein

8. Routine cytogenetic analysis using standard G-banding at normal levels of resolution would detect most cases of:

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a. Williams syndrome b. Velocardial facial syndrome c. Cri du Chat syndrome d. DiGeorge syndrome e. Miller-Dieker syndrome

9. All of the following regarding meiosis are true except:

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a. The dictyotene stage occurs in both male and female meiosis

b. Reduction division occurs in meiosis I c. Females usually produce two polar bodies d. Males usually produce four spermatids e. Female meiosis begins prenatally and is arrested

before birth

10. The most common cause of triploidy is:

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a. Polyspermy b. Female nondisjunctional event c. Male nondisjunctional event d. Error in early cleavage division e. Anaphase lag

11. The most common cause of tetraploidy is:

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a. Polyspermy b. Female nondisjunctional event c. Male nondisjunctional event d. Error in early cleavage division e. Anaphase lag

12. All of the following regarding sex chromosome abnormalities are true except:

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a. Most cases of 47,XXX are due to maternal nondisjunction

b. Most cases of 47,XXY are due to paternal nondisjunction

c. Most cases of 45,X are due to paternal nondisjunction d. 47,XXX is associated with increased maternal age e. 47,XYY is associated with paternal nondisjunction

13. The most common karyotype associated with Burkitt lymphoma is:

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a. t(2;8)(p12;q24.1) b. t(8;14)(q24;q11.2) c. t(8;14)(q24;q32) d. t(8;22)(q24.1;q11.2) e. t(2;5)(p23;q35)

14. Which of the following choices represents the most common karyotype associated with supravalvular aortic stenosis?

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a. 47,XXY b. 46,XX,del(22q11.2q11.2) c. 45,X d. 47,XXX e. 46,XX, ish del(7)(q11.23q11.23)(ELN-)

15. Choose the karyotype most representative of a newborn with cleft lip, cleft palate, postaxial polydactyly, microopthalmia and congenital heart disease:

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a. 47,XY,+13 b. 47,XY,+18 c. 47,XY,+21 d. 46,XY,der(14;21)(q10;q10),+21 e. 46,XY,dup(21)(q11.2q11.2)

16. In which one of the following situations would chromosome analysis be indicated?

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a. A couple with a stillbirth and three spontaneous abortions

b. A woman with one spontaneous abortion c. The father of an infant with a maternally derived

t(11;21) translocation d. The parents of a child with trisomy 21 e. The parents of a child with an abnormal Y chromosome

17. The only incontrovertible factor associated with human trisomy is:

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a. Birth control in the mother b. Maternal age c. Maternal smoking d. Radiation exposure to either parent e. Maternal hyperthermia

18. All of the following choices regarding the nucleosome are correct except:?

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a. Single-stranded DNA structure. b. First level of DNA compaction/compression to form a

chromosome. c. Often referred to as “beads on a string” structure. d. Formed from the winding of DNA around a core of

histone proteins e. Contains linker DNA

19. Which of the following choices best defines a modal chromosome number of 25 chromosomes?

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a. Hypodiploid b. Near haploid c. Hyperdiploid d. Pseudodiploid e. Aneuploid

20. Select from the choices below the most frequent abnormal karyotype in plasma cell myeloma.

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a. t(11;14)(q13;q32) CCND1/IGH@ b. t(4;14)(16.3;q32) FGFR3-WHSC1/IGH@ c. t(6;14)(p21;q32) CCND3/IGH@ d. t(14;16)(q32;q22) IGH@/MAF e. hyperdiploid Gains of 3,5,7,9,11,15,19,21

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