NEET PG Pathology MCQs 30 – Genetic Disorders – 6

  1. Downs syndrome is associated with
    1. Congenital heart disease
    2. ALL
    3. Early-onset Alzheimer’s disease
    4. CNS tumor
    5. Infection
      1. Ans(1,2,3,5)
  2. Does a frameshift mutation occur due to?
    1. Transition
    2. Transversion
    3. Insertion
    4. Point mutation
      1. Ans(3)
  3. Which of the following is true of Klinefelter’s syndrome
    1. Chromosome pattern is 47, XXY
    2. Mental retardation is present
    3. Hypogonadism occurs
    4. Increased FSH level
    5. Eunuchoid proportions
      1. Ans(1,3,4,5)
  4. Hypophosphatemic Vit D Resistant Rickets is?
    1. AD
    2. AR
    3. XD
    4. XR
      1. Ans(3)
  5. The abnormal chromosomal number which is the exact multiple of 23 is:
    1. Euploidy
    2. Aneuploidy
    3. Mosaicism
    4. Trisomy
      1. Ans(1)
  6. Which of the following is X linked recessive?
    1. Duchenne muscular dystrophy
    2. Hypophosphatemic Rickets
    3. Marfan syndrome
    4. Downs syndrome
      1. Ans(1)
  7. Which is not true about Down’s syndrome
    1. Decreased humerus length
    2. Decreased nuchal fold thickness
    3. Decreased femur length
    4. Duodenal atresia
      1. Ans(2)
  8. All the following are autosomal dominant
    1. Cronkhite Canada syndrome
    2. Bannayan Ruvalcaba Riley syndrome
    3. Peutz jegher’s syndrome
    4. Gardner’s syndrome
      1. Ans(1)
  9. Barr body is absent in:
    1. Klinefelter’s syndrome
    2. Turner’s syndrome
    3. Super female
    4. None
      1. Ans(2)
  10. A wardenburn syndrome is due to a mutation of:
    1. PAX2 gene
    2. PAX3 gene
    3. PAX6 gene
    4. PAX9 gene
      1. Ans(2)
  11. Autosomal recessive disease(s) is/are
    1. Sickle cell anemia
    2. Phenylketonuria
    3. Tuberous sclerosis
    4. Familial polyposis coli
    5. Marfan syndrome
      1. Ans(1,2)
  12. Which among the following subtypes of Osteogenesis imperfecta is not associated with blue sclera?
    1. Type I
    2. Type II
    3. Type III
    4. Type IV
      1. Ans(4)
  13. Chromosomal abnormalities in Down syndrome is/are due to:
    1. Nondisjunction of maternal chromosome
    2. Nondisjunction of paternal chromosome
    3. Translocation between chromosome 21&14
    4. Disjunction of paternal chromosome
    5. Mosaicism
      1. Ans(1,2,3,5)
  14. A globoid cell is a diagnostic feature of
    1. Krabbe’s disease
    2. Progressive multifocal leukoencephalopathy
    3. Tay Sach’s disease
    4. Metachromatic epiphyseal dysplasia
      1. Ans(1)
  15. True about Lyonization of X chromosome:
    1. Inactivation of X chromosome only is a somatic cell
    2. Inactivation of X chromosome only is a somatic cell
    3. Inactivation of an X chromosome in somatic & germ cell both
    4. Maximum number of Barr is equal to an X chromosome
      1. Ans(1)
  16. Von Recklinghausen’s disease of the bone is caused by
    1. Paget’s disease
    2. Severe hyperparathyroidism
    3. Renal osteodystrophy
    4. Severe osteomalacia
      1. Ans(2)
  17. Which of the following pairs is not correctly matched?
    1. Turner’s syndrome ….. 45,(XO)
    2. Down syndrome……..47, XY+21
    3. Klinefelter’s syndrome …..47, XXY
    4. Marfan’s syndrome ….47, XYY
      1. Ans(4)
  18. Which of the following is not due to defect in type II collagen?
    1. Achondrogenesis II
    2. Hypochondrogenesis
    3. Stickler’s syndrome
    4. Multiple epiphyseal dysplasias
      1. Ans(4)
  19. The clinical features of Turner’s Syndrome in girls include the following except:
    1. Severe mental retardation
    2. Webbing of the neck
    3. Delayed puberty
    4. Short Stature
      1. Ans(1)
  20. Which of the following in inherited autosomal recessive?
    1. Achondroplasia
    2. Tuberous sclerosis
    3. Hemochromatosis
    4. Osteogenesis imperfect
      1. Ans(3)
  21. The law “Relative frequencies of each gene allele tends to remain constant from generation to generation”, was given by?
    1. Henry signs
    2. Hardy Weinberg
    3. Doug Engelberg
    4. Johanna Frank
      1. Ans(2)
  22. RET proto-oncogene is located on which chromosome
    1. 9
    2. 10
    3. 11
    4. 12
      1. Ans(2)
  23. ABO blood group is an example of:
    1. Co-dominance
    2. AD
    3. AR
    4. Mitochondrial inheritance
      1. Ans(1)
  24. Which of the following is autosomal recessive inherited cancer syndrome?
    1. Ataxia telangiectasia
    2. Cowden syndrome
    3. Retinoblastoma
    4. HNPCC
      1. Ans(1)
  25. A 48 years old lady presented with hepatosplenomegaly with pancytopenia. On bone marrow examination a tissue paper crumpled appearance is seen, which is the most likely product to have accumulated?
    1. Glucocerebroside
    2. Sphingomyelin
    3. Sulfatide
    4. Ganglioside
      1. Ans(1)

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