GENETICS MCQ

1. Which of the following statement is correct :

a. Down's syndrome " trisomy 21 " confers a high risk of male breast cancer
b. Down's syndrome " trisomy 21 " predisposes to extra - gonadal germ cell tumors
c. Klinefelter syndomre ( 47 , XXY ) predisposes to male breast cancer
d. Klinefelter syndomre ( 47 , XXY ) predisposes to acute leukaemia .

2. Genetic heterogeneity represents which of the following?

a. Multiples genotypes cause different phenotypes
b. One genotype can cause multiple phenotypes
c. One genotype causes one phenotype
d. Multiple genotypes can cause the same phenotype

3. Which of the following structural chromosomal anomalies is balanced ?

a. Ring chromosome
b. Inversion
c. Duplication
d. Trisomy

4. Which of the following describes an ideogram ?

a. Graphical representation of comparative genomic hybridization
b. Digital image of a G – banded karyotype
c. Digital image of spectral karyotype
d. Diagrammatic image of a G – banded karyotype

5. Mitochondrial disorders are characterized by all of the following EXCEPT : Select one :
a. Diabetes Mellitus is an example
b. Affects only males
c. Are exclusively maternally inherited
d. Variable expressivity is common
6. In an autosomal dominant disease which of the following statements is True :
a. Females are more affected than males
b. Parents cannot have healthy children.
c. There is no transmission from father to son
d. Inheritance is not affected by sex of parents

7. Which of the following tests are used in the diagnosis of klinefelter ( 47.XXY ) syndrome ?
a. Karyotyping
b. Behavioral analysis
c. Pedigree analysis
d. Polymerase chain reaction

8. Partial trisomy is represented by which of the following ?

a. Translocation
b. Deletion
c. Duplication
d. Insertion

9. Which of the following causes mosaicism ?

a. Fertilization by diploid sperm
b. Non-disjunction error during gametogenesis
c. Presence of 2 cell lines derived from twin zygotes
d. More than single cell lines derived from the same zygote

10. Which of the following results in Partial Vesicular mole ?

a. Trisomy due to non – disjunction
b. Triploidy due to fertilization of diploid ovum
c. Triploidy due to dispermy
d. Tetraploidy due to failure of first cleavage division
11. Diabetes Mellitus is considered which of the following modes of inheritance?
a. X-linked Inheritance
b. Multifactorial inheritance
c. Autosomal recessive
d. Autosomal dominant

12. A case of a balanced reciprocal translocation can presents with which of the following ?
a. Infertility ‫اظن بس متأكد‬
b. Abnormal facial features
c. Short stature
d. Decreased life span

13. Autosomal dominant disorders , if a subject inherits the mutation and does not show the
disease , this is called :
a. Genetic heterogeneity
b. Reduced penetrance .
c. Variable expressivity.
d. Anticipation .

14. Which of the following disorders does NOT show X – linked inheritance ?
a. Duchenne muscular dystrophy
b. Haemophilia A
c. Haemophilia B
d. Phenylketonuria

15. All is true about Xeroderma pigmentosum : EXCEPT :

a. Predisposes to skin cancers under 20 years of age
b. Characterized by extreme sensitivity to ionizing radiation
c. Is a DNA – chromosomal instability syndrome
d. Shows a defect in DNA repair mechanism
16. Karyotyping is indicated in the following clinical conditions EXCEPT ?
a. Multiple congenital
b. Infertility
c. Diabetes Mellitus **
d. Ambiguous genitalia anomalies

17. All the following are examples of aneuploidies EXCEPT :

a. Tetrasomy.
b. Monosomy.
c. Trisomy
d. Triploidy

18. A non – consanguineous couple had a child with delayed growth and development and
dysmorphology consistent with Edward’s syndrome. His karyotype reveals ( 46, XY / 47 , XY
+ 18 ) . How could this finding be explained?
a. Mitotic non – dysjunction in the growing embryo
b. Somatic mosaicism of one of the parents
c. Meiotic failure of gametes of one of the parents
d. Gonadal mosaicism of one of the parents

19. Multifactorial inheritance is caused by :

a. Changes in several genes .
b. Environmental factors and single gene .
c. Environmental factors and several genes
d. Mutation of a single gene

20. Comparative genomic hybridization is best used for which of the following ?
a. Balanced genetic rearrangement
b. Loss or gain of genetic material
c. Detection of a single gene mutation
d. All of the above
21. The fusion of two different zygotes results in which of the following ?
a. Mosaicism
b. Molar pregnancy
c. Tetraploidy
d. Chimerism

22. A missense variant is detected in a certain gene in 50 % of Egyptians and don’t participate
directly in disease. Such a variant is considered as which of the following ?
a. common pathogenic variant
b. rare pathogenic variant
c. common polymorphic variant
d. rare polymorphic variant

23. Spectral karyotype can be used for detection of the following EXCEPT ?
a. Inversion
b. Deletion.
c. Aneuploidy.
d. Reciprocal translocation

24. Which of the following results in a carrier of a chromosomal defect with normal phenotype ?
a. 47 , XY , +21
b. 46 , XY , del ( 13q21 )
c. 45 , XY , t ( 13:15 )
d. 47 , XXY

25. Which of the following is a cause of Angelman syndrome ?

a. Paternal uniparental disomy of chromosome 15
b. Maternal uniparerntal disomy of chromosome 15
c. Deletion in the paternally derived chromosome 15
d. Duplication of maternal chromosome 15q11.2
26. Which of the following genes are involved in determining the presies doss of Warfarin
anticoagulant to treat patients with increased tendency to coagulation !
A. CYP2D6 and CYP2C9
B. CYP2D6 and VKORC 1
C. CYP2C9 and HLA – BS
D. CYP2C9 and VKORC 1 .

27. Which of the following is a feature of Xeroderma pigmentosum?

a. Predisposes to skin xerosis “dryness”
b. is characterized by extreme sensitivity to alkylating agents
c. Is a DNA – chromosomal instability syndrome
d. Shows a defect in RNA replication

28. Which of the following single gene disease is

consistent with the following pedigree?

a. Achondroplasia
b. Hemophilia A
c. Phenylketonuria
d. Thalasaemia

29. Which of the following to considered a feature of polymorphic variant ?

a. Present in 1 % of a population
b. Results in a premature stop codon
c. Causative of a disesse running in a family
d. Present in affected patient and absent in controls

30. All of the following show chromosomal breakage EXCEPT ?

a. Fanconi anemia
b. Ataxia telangiectasia
c. Fragile X mental retardation
d. Bloom’s syndrome
31. Which of the following structural chromosomal abnormality give rise to ring chromosome ?
a. Deletion
b. Duplication
c. Translocation
d. Isochromosome

32. Genetic heterogeneity represents which of the following ?

a. One genotype causes one phenotype
b. One genotype can cause multiple phenotypes
c. Multiples genotypes cause different phenotypes
d. Multiple genotypes can cause the same phenotype

33. Pyrimidine dimers signify the fingerprint of genetic damage caused by

a. Electromagnetic radiation.
b. Ultraviolet radiation
c. Gamma radiation
d. lonizing radiation

34. Achmera is the result of which of the following?

a. Fertilization error
b. Non-disjunction error in the post fertilization mitotic division
c. Fusion of cells from two zygotes
d. Dispermy

35. In an autosomal dominant disease, which of the following statement is true ?

a. The risk of recurrence is 25 %
b. Both parents are carriers
c. Both parents are affected
d. One of the parents is affected
36. Which of the following genetic syndromes is caused by triplet repeat expansion?
a. Fragile X Syndrome
b. Cystic fibrosis
c. Familial hypercholesterolemia
d. Sickle cell disease.

37. A 45 – year – old female started to show manifestations of Myotonic dystrophy . Genetic
testing reveals 38 CTG repeats . Which of the following repeat size her baby is expected to
have ?
a. 38 repeats
b. 25 repeats
c. 44 repeats
d. 28 repeats

38. Splice site mutation is likely to be pathogenic by which of the following mechanisms ?
a. altered amino acid sequence
b. premature truncated protein
c. premature decay of mRNA
d. All of the above

39. Neurofibromatosis is characterized by skin manifestation in the form of café au lait spots and
nervous system tumours . This feature is best described as which of the following ?
a. Pleiotropy
b. Variable expression
c. New mutation
d. Mosaicism

40. Single coding nucleotide change can result in any of the following EXCEPT :
a. change of several amino acid sequence
b. change of a single amino acid
c. no change in amino acid sequence
d. premature stop codon
41. Chromosomal trisomy is most probably caused by which of the following ?
a. Genetic mutation
b. Unequal crossing over
c. Sister chromatid exchange
d. Non disjunction

42. The most appropriate molecular testing in case of the presence of several genes causing the
same disease is :
a. Sanger sequencing
b. Next generation sequencing ‫مش متأكد‬
c. Polymerase chain reaction .
d. Fluorescent in situ hybridization

43. Heteroplasmy is a term used to describe which of the following ?

a . Mutations of nuclear DNA
b . Mutations of proportion of mitochondrial DNA
c . Mature different mRNA
d . Mutations of mRNA

44. Which of the following human genetic disorders is NOT caused by non – disjunction ?
a . 45 , X
b . 46 , XX , t ( 14:21 )
C. 47 , XXX
d . 47.XXY

45. Sickle cell anemia is caused by a common mutation of the sixth codon . Which of the
following is the most appropriate genetic testing for diagnosis of Sickle cell anaemia ? :
a . karyotype analysis
b . PCR based mutation detection
c . Sequencing of beta globin gene
d . spectral karyotype
46. Which of the following examples trisomies can not result in livebirth ?
a . Trisomy 13
b . Trisomy 11 .
C. Trisomy 21
d . Trisomy 18

47. All of the following is considered an underlying pathology of Prader - Willi syndrome EXCEPT:
a . Methylation of genes
b . Unipaternal disomy
c . Paternal gene deletion
d . Unimaternal disomy

48. Missense mutations cause a defective function of the protein in the following condition/ s ?
a. If the replaced amino acid is non – conservative
b. If the amino acid lies in a functional domain of the protein .
c. If the amino acid is conserved in several species
d. All the above

49. The abnormal phenotype resulting from mosaicism depends on :

a. The proportion and distribution of the abnormal cells
b. Which chromosome / gene is involved.
c. Which tissues are affected.
d. All the above

50. What is the cause of variable severity of X – linked dominant disorders in females?
a. Anticipation
b. Lyonization
c. Genocopy
d. Pleiotropy
51. A non – consanguineous couple had their first child with extremely short stature and
dysmorphism suggestive of achondroplasia . There is no similar cases in the family. Which of
the following explains this finding ?
a. Recessive inheritance
b. Mosaicism
c. New mutation
d. Low penetrance

52. History taking of this lady, reveals multiple affected family members. Which of the following
is the underlying genetic abnormality seen in this condition ?

a. Inherited single germline mutation

b. Inherited single somatic mutation
c. Acquired single somatic mutation
d. Inherited germline & acquired somatic mutation

53. Which of the following is the mode of inheritance in the

following pedigree?

a. X – linked dominant .
b. X – linked recessive
c. Autosomal dominant
d. Autosomal recessive