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
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 syndrome
b) Myxedema
c) Acromegaly
d) Grave’s disease
8. The disease caused due to the
deficiency of phytanic acid alpha oxidase is?
a) SIDS
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
Answers
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
