MCQ on Syndrome | Klinefelter's syndrome - Proteus syndrome - Kock Knee syndrome -Guillain-Barre Syndrome

1. Edward's syndrome is the result of

a) Trisomy-13

b) Trisomy-18

c) Trisomy-21

d) Deletion of 4

2. Jacobsen Syndrome is due to 

a) Deletion

b) Duplication 

c) Translocation

d) Inversion 

3. Production of excessive amount of corticotropin (ACTH) occur in which of the following diseases?

a) Cushing syndrome 

b) Alport syndrome

c) Greig's syndrome 

d)Greve's disease

MCQ on Syndrome

4. A human with a karyotype of 48, XXXY is an example for-----

a) Klinefelter's syndrome

b) Turner's syndrome

c) Triple X

d) Down's syndrome 

5. Which of the following statements are correct?
 1. Cri-du-chat syndrome is due to chromosomal change involving deletion
 2. Klinefelter’s syndrome has 44+XXY condition
 3. Down’s syndrome is due to the extra 21st chromosome 

4. Formation of multivalents in meiosis is due to reciprocal translocation 

a) 1 & 3 only 

b) 1, 2 & 3 only 

c) 2 & 3 only 

d) 1, 2, 3 & 4

6. Which of the is not a chromosomal anomaly 

a) Cri du Chat Syndrome

b) Proteus syndrome

c) Patau syndrome

d)Jacob's syndrome


7. Which one of the following is adrenal disorder?

a) Cushing syndrom

b) Myxedema

c) Acromegaly 

d) Grave’s disease


8. The disease caused due to the deficiency of phytanic acid alpha oxidase is?


b) Zellweger syndrome 

c) Refsum's disease

d) Methyl malonyl aciduria 


9. Kock Knee Syndrome is due to

a) Lead pollution 

b) Mercury pollution 

c) Fluoride pollution 

d) Solid waste pollution 

10. After analyzing the karyotype of an abnormal new born baby doctor diagnosed that he is having Edwards syndrome. The reason is

a) Trisomy 21 

b) Trisomy 13

c) Trisomy 18 

d) Trisomy 15 

11.  Jacobsen Syndrome is due to :

a) Deletion

b) Translocation

c) Duplication

d) Inversion 

12.  Lesch-Nyhan syndrome is associated with:

a) defect in salvage pathway of nucleotides

b) errors in DNA repair

c) problems in genic balance

d) defects in mitotic spindle fiber formation 

13. Match the following 

i) 1-d, 2-a, 3-b, 4-c

ii) 1-d, 2-c, 3-a, 4-b

iii) 1-d, 2-c, 3-b, 4-a

iv) 1-b, 2-d, 3-a, 4-c

14.Down syndrome is an example of 

a) chromosomal mutation

b) mutation in mitochondrial genes

c) aberration due to aneuploidy

d) aberration due to ployploidy

15. Guillain-Barre Syndrome is an abnormal condition arising out of 

a) Mutations in mitochondrial DNA 

b) Sex linked inheritance

c) auto immune reactions

d) chromosomal aberrations

16. Which of the deficiency lends to Wiskott Aldrich Syndrome ?

a) T and B cell

b) T cell

c) Complement

d) B cell 

17. Philadelphia chromosome causes chronic myelogenous leukaemia. 

Statement 1. Philadelphia chromosome has ABL/ BCR fusion 

Statement 2. Philadelphia chromosome increases tyrosine kinase activity in cells 

A) Both 1 and 2 are correct and 1 is the correct explanation of 2 

B) Both 1 and 2 are correct and 2 is the correct explanation of 1 

C) Both 1 and 2 are wrong 

D) 1 is wrong and 2 is correct

Learn more: MCQ on Human Genetic Disorder


1. b) Trisomy-18  

2. a) Deletion

3. a) Cushing syndrome 

4. a) Klinefelter's syndrome

5. d) 1, 2, 3 & 4

6. b) Proteus syndrome

7. a) Cushing syndrome 

8. c) Refsum's disease

9. c) Fluoride pollution 

10. c) Trisomy 18 

11. a) Deletion 

12. a) defect in salvage pathway of nucleotides

13. i) 1-d, 2-a, 3-b, 4-c

14. c) aberration due to aneuploidy 

15. c) auto immune reactions

16. a) T and B cell

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