Chromosomal and Other Genetic Disorders
- Previous year questions on Chromosomal and Other Genetic Disorders for NEET PG (National Eligibility cum Entrance Test - Postgraduate), from the Pathology section of the exam.
- Most questions here come from previous-year papers of Indian postgraduate medical entrance and licensing exams; where a paper and year are recorded the question carries them. The image-based questions are original vignettes written around an openly licensed figure, and were never asked in any exam.
- 104 live questions in Chromosomal and Other Genetic Disorders.
- 4 of 104 questions carry a verified exam year: 2017, 2018, 2019.
- Pathology is worth about 25 of 300 questions on the exam. See every subject’s weightage.
- Question set last updated 6 Sept 2026.
Q1.Which is not associated with Down's syndrome?
- ATrisomy 21
- BMosaic 21
- CRobertsonian translocation 21/21,14/21
- DDeletion 21✓ Correct answer
Q2.Maternal chromosome 15 disomy results in
- APrader Willi Syndrome✓ Correct answer
- BFragile x syndrome
- CMarfan's syndrome
- DAngelman Syndrome
Q3.The type of mutation that leads to replacement of Valine for glutamate in Sickle Cell Disease is
- APoint mutation✓ Correct answer
- BSilent mutation
- CNonsense mutation
Q4.Neurofibromatosis is associated with all except
- AAutosomal recessive✓ Correct answer
- BCutaneous fibromas
- CCataract
- DScoliosis
Q5.Light microscope resolution to visualise chromosomes
- A500 kb
- B5 mb✓ Correct answer
- C50 mb
- D5 kb
Q6.All are seen in Fragile X syndrome except
- ATesticular enlargement is seen
- BCause of mental retardation
- CTrinucleotide repeat mutations are present
- DGenomic imprinting✓ Correct answer
Q7.Which of the following is true about Fragile X syndrome?
- ATriple nucleotide CAG Sequence mutation
- B10% female carriers are mental disability
- CAffected males have IQ of 20-40✓ Correct answer
- DMicro-orchidism in affected males
Q8.Which of the following is not seen in Ehlers-Danlos syndrome?
- AKyphoscoliosis
- BArthrochalasia
- CDermatosparaxis
- DPectus excavatum✓ Correct answer
Q9.Which of the following is not compatible with life?
- AOX
- BXX
- COY✓ Correct answer
- DXXX
Q10.16-year-old girl with short height, amenorrhea with widely spaced nipple. Karyotyping is;
- A45 X0✓ Correct answer
- B46 XO
- C47 XXX
- D46XY
Answer key
Q1: D. Deletion 21; Q2: A. Prader Willi Syndrome; Q3: A. Point mutation; Q4: A. Autosomal recessive; Q5: B. 5 mb; Q6: D. Genomic imprinting; Q7: C. Affected males have IQ of 20-40; Q8: D. Pectus excavatum; Q9: C. OY; Q10: A. 45 X0.
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