NEET PG Pathology MCQs 29 – Genetic Disorders – 5

1. Chromosome 22 deletion syndrome is

  1. Down syndrome
  2. Di George syndrome
  3. Turner syndrome
  4.  Klinefelter syndrome

Ans (2)


2. Patau’s syndrome is due to

  1. Trisomy 21
  2. Trisomy 18
  3. Trisomy 15
  4. Trisomy 13

Ans (4)


3. Edwards syndrome is

  1. Trisomy 21
  2. Trisomy 18
  3. Trisomy 13
  4. Trisomy 5

Ans (2)


4. Number of chromosomes in Turner syndrome are

  1. 45
  2. 47
  3. 46
  4. 42

Ans (1)


5. In Klinefelter syndrome, the no.of chromosome is

  1. 47
  2. 46
  3. 45
  4. 44

Ans (1)


6. True about array CGH is/are all except

  1. Used for known Genetic Loci
  2. Both duplication and deletion can be studied
  3. Can detect multiple abnormalities at the same time
  4. Uses array hybridization technology

Ans (1)


7. Known gene loci are can be diagnosed by

  1. Fish
  2. Comparative gene hybridization
  3. PCR
  4. Chromosomal painting

Ans (1)


8. Resolution of the light microscope of viewing chromosome

  1. 5 kb
  2. 500 kb
  3. 5 MB
  4. 50 MB

Ans (3)


9. Real-time polymerase chain reaction is done for

  1. DNA detection only
  2. RNA detection only
  3. Both RNA and DNA detection
  4. Monitoring amplification of target nucleic acid

Ans (4)


10. Karyotyping is done in which phase of cell cycle

  1. Anaphase
  2. Metaphase
  3. Telophase
  4. S phase

Ans (2)


11. Microarray is

  1. Study of multiple genes
  2. Study of diseases
  3. Study of organisms
  4. Study of blood group

Ans (1)


12. Which of the following procedures is a routine technique for karyotyping using light microscopy

  1. C-banding
  2. G-banding
  3. Q-banding
  4. Brd V-staining

Ans (2)


13. Karyotyping is useful in the diagnosis of

  1. Autosomal recessive disorders
  2. X-linked recessive disorders
  3. Chromosomal abnormalities
  4. Biochemical abnormalities

Ans (3)


14.In-situ DNA nick end labeling can quantitate

  1. The fraction of cells in apoptotic can quantitate
  2. The fraction of cells in apoptotic pathways
  3. P53 gene produce
  4. Bcr/abl gene

Ans (1)


15. The mutation leads to sickle cell anemia

  1. Crossover Mutation
  2. Frameshift
  3. Deletion
  4. Point mutation

Ans (4)


16. All of the following are autosomal dominant disorders except

  1. Gardener’s syndrome
  2. Ataxia – telangiectasia
  3. Neurofibromatosis
  4. Peutz-Jeghers syndrome

Ans (2)


17. Which of the following is X-linked recessive

  1. G6 PD deficiency
  2. Neurofibromatosis
  3. Thalassemia
  4. Alkaptonuria

Ans (1)


18. Gene instability associated with malignancy is seen in

  1. Klippel – Feil syndrome
  2. Ataxia – telangiectasia
  3. Marfan’s syndrome
  4. EDS

Ans (2)


19. Single gene disorder which does not follow Mendelian inheritance is

  1. Sickle cell anemia
  2. Down syndrome
  3. Fragile X syndrome
  4. Retinoblastoma

Ans (3)


20. True about genomic imprinting

  1. Differential expression of a gene depending on the parent of origin
  2. Prader – Willi syndrome is a maternal deletion of chromosome 15
  3. Angelman syndrome is due to paternal deletion of chromosome 15
  4. Uniparental disomy is another name of genomic imprinting

Ans (1)


21. Angelman syndrome is due to

  1. Digenic inheritance
  2. Inversion
  3. Uniparental disomy
  4. Mitochondrial disorder

Ans (3)


22. Which of the following procedures are a routine technique for karyotyping using light microscopy

  1. C-banding
  2. Q-banding
  3. G-banding
  4. Brd V-staining

Ans (3)


23. Down syndrome is most commonly caused by

  1. Maternal nondisjunction
  2. Paternal dysfunction
  3. Translocation
  4. Mosaicism

Ans (1)


24. Gene involved in Rett syndrome

  1. P 53
  2. MECP 2
  3. RB
  4. BRCA

Ans (2)


25. Mitochondrial DNA (mt-DNA) is known for all except

  1. Maternal inheritance
  2. Heteroplasmy
  3. Leber hereditary optic neuropathy is the prototype
  4. Nemaline myopathy results due to mutations in mt-DNA

Ans (4)


26. Superotermporal lental subluxation is seen in

  1. Weill – Marcheasani syndrome
  2. Marfan’s syndrome
  3. Hunter’s syndrome
  4. Homocystinuria

Ans (2)


27. The feulgen reaction is a cytochemical test for

  1. mRNA
  2. tRNA
  3. DNA
  4. All of the above

Ans (3)


28. The following are single gene disorders except

  1. Hemochromatosis
  2. Cystic fibrosis
  3. William’s syndrome
  4. Huntington’s disease

Ans (3)


29. Multifactorial inheritance is known as

  1. Neurofibroma
  2. Hemophilia
  3. Cardiac septal defects
  4. Hypophosphatemic defects

Ans (3)


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