ASCP CG EXAM UPDATED ACTUAL QUESTIONS AND CORRECT ANSWERS

ASCP CG EXAM UPDATED ACTUAL QUESTIONS AND
CORRECT ANSWERS

Question:
1. All of the following are considered to be normal chromosomal polymorphisms EXCEPT:
A. Heterochromatic region of the distal Y q-arm
B. Variable length of stalk regions on the acrocentric chromosome p-arms
C. Pericentric inversion of chromosome 9
D. Robertsonian translocations involving chromosomes 14 and 21
Answer:
D. Robertsonian translocations involving chromosomes 14 and 21

Question:
2. Which of the following chromosomal abnormalities will produce Wolf-Hirschhorn Syndrome?
A. del(4)(p16)
B. del(5)(p15)
C. del(7)(q11q13)
D. dup(12)(p12p13)
Answer:
A. del(4)(p16)

Question:
3. A bone marrow specimen on a patient with suspected CML has a karyotype of
46,XY,t(9;22)(q34;q11.2),t(10;14)(p15;q24) in all 20 cells analyzed. The t(10;14) abnormality observed
may represent all of the following EXCEPT:
A. A constitutional abnormality
B. Disease progression
C. An acquired clonal abnormality
D. An abnormality of no clinical significance
Answer:
D. An abnormality of no clinical significance

Question:
4. Which of the following results represents a numerical constitutional abnormality that can be observed in
a live-born infant?
A. 46,XX,der(13;14)(q10;q10)
B. 45,XX,-12
C. 46,X,i(X)(q10)
D. 47,XX,+13
Answer:
D. 47,XX,+13
Patau Syndrome

,Question:
5. Which of the following chromosome abnormalities is frequently found in patients who present with
hypereosinophilic syndrome?
A. t(8;21)(q22;q22)
B. inv(16)(p13q22)
C. t(8;14)(q24;q32)
D. del(5)(q13q33)
Answer:
B. inv(16)(p13q22)

Question:
6. All of the following are caused by a gene deletion EXCEPT:
A. DiGeorge Syndrome
B. Beckwith-Wiedemann Syndrome
C. Prader-Willi Syndrome
D. Miller-Dieker Syndrome
Answer:
B. Beckwith-Wiedemann Syndrome
(DUPLICATION 11p15)

Question:
7. Which of the following prenatal results would lead to the highest probability of a live-born infant?
A. Trisomy 16
B. Monosomy X (45,X)
C. Trisomy 21
D. Tetraploidy (92,XXXY)
Answer:
C. Trisomy 21

Question:
8. Which of the following chromosomal abnormalities is observed in patients with Prader-Willi
Syndrome?
A. i(X)(q10)
B. del(15)(q11q13)
C. del(5)(p14p15)
D. del(11)(p13)
Answer:
B. del(15)(q11q13)

Question:
9. A karyotype written as 45,X,-X,del(13)(q13) implies which of the following?
A. A Klinefelter patient with a deletion of the long arm of chromosome 13
B. A normal female patient with a deletion of the long arm of chromosome 13
C. A female patient with 45 chromosomes, loss of one X chromosome, and a deletion of the long arm of
chromosome 13
D. Turner Syndrome

, Answer:
C. A female patient with 45 chromosomes, loss of one X chromosome, and a deletion of the long arm of
chromosome 13
-X is only written for a patient with a previously know XX or XY karyotype. This indicates that a
chromosome was loss (for example from cancer) not inherited.

Question:
10. Which of the following is one of the few syndromes produced by tetrasomy of a chromosome region?
A. Cri du chat Syndrome
B. Beckwith-Wiedeman Syndrome
C. Cat eye Syndrome
D. Fragile X Syndrome
Answer:
C. Cat eye Syndrome
(triplication 22q)

Question:
11. On the requisition, the following phenotype was noted: poor muscle tone, language difficulty,
congenital heart defect and cat-like cry in infancy. What chromosome abnormality would you suspect?
A. del(4)(p16)
B. del(5)(p15)
C. +18
D. del(17)(p11.2)
Answer:
B. del(5)(p15)
Cri-Du-Chat

Question:
12. Angelman Syndrome results from:
A. A deletion in a chromosome of maternal inheritance
B. A deletion in a chromosome of paternal inheritance
C. A duplication in a chromosome of maternal inheritance
D. A duplication in a chromosome of paternal inheritance
Answer:
A. A deletion in a chromosome of maternal inheritance
Angelman = Missing mom !!!

Question:
13. Which of the following specimens should be requested for a cytogenetic analysis for Turner
Syndrome?
A. Heparinized bone marrow aspirate
B. Heparinized pleural fluid
C. Heparinized peripheral blood
D. Lymph node biopsy
Answer:
C. Heparinized peripheral blood