Chromosomal Abnormalities

Previous year questions on Chromosomal Abnormalities for NEET PG (National Eligibility cum Entrance Test - Postgraduate), from the Paediatrics 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.
57 live questions in Chromosomal Abnormalities.
1 of 57 questions carries a verified exam year: 2018.
Paediatrics is worth about 10 of 300 questions on the exam. See every subject’s weightage.
Question set last updated 6 Sept 2026.

Q1.Which is not a feature of Edwards' syndrome
- ASimian crease
- BMicrognathia
- CMental retardation
- DCongenital heart defects
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Q2.The risk of having a baby with Down syndrome for a 30-year-old woman increases
- AIf her pregnancy has been achieved by induction of ovulation by menotropins
- BIf she has had a previous baby with Turner syndrome (45,X)
- CIf she has had a previous baby with triploidy
- DIf she has had three first-trimester spontaneous abortions
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Q3.Most common cardiac defect in Turner syndrome
- APretruncal coarctation of aorta
- BBicuspid aortic valve
- CHypoplastic left heart
- DMitral regurgitation
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Q4.Mr. and Mrs. Annadurai have a 2 month old baby suffering from Down's syndrome. Karyotype of Mrs. Annadurai shows translocation variety of Down syndrome. Which of the following investigations will you advise to the parents before the next pregnancy?
- ATriple test
- Ba-fetoprotein
- CKaryotyping
- Db-human chorionic gonadotropin (hCG)
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Q5.Kamlesh, a 2 year old girl, has Down's syndrome. Her karyotype is 21/21 translocation. What is the risk ofrecurrence in subsequent pregnancies if the father is a balanced translocation carrier :
- A100%
- B50%
- C25%
- D0%
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Q6.A 35 years old lady has chromosomal translocation 21/21. The risk of down syndrome in the child is –
- A100%
- B0%
- C10%
- D50%
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Q7.Characteristic of XO chromosomal defect Is :
- ASho stature
- BWebbed necked
- CInfeility
- DAll of the above
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Q8.Trisomy 21 is also known as: September 2011
- ATurner's syndrome
- BKlinefelter's syndrome
- CDown's syndrome
- DAlpo's syndrome
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Q9.Genotype in Kleinfelters syndrome is -
- A47XXY
- B46XY
- C46XX
- D47XXO
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Q10.Which of the following is true for Klinefelter's syndrome?
- A45X0
- BArm span and height more
- CAttains puberty normally
- DNormal testis and genitalia
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Answer key

Q1: A. Simian crease; Q2: D. If she has had three first-trimester spontaneous abortions; Q3: B. Bicuspid aortic valve; Q4: C. Karyotyping; Q5: A. 100%; Q6: A. 100%; Q7: D. All of the above; Q8: C. Down's syndrome; Q9: A. 47XXY; Q10: B. Arm span and height more.

Sit a timed test on Chromosomal Abnormalities

Chromosomal Abnormalities

Answer key

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