5.6 Aneuploidy, Sex-Chromosome Disorders & Aberrations — Test 2

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Welcome! 5.6 Aneuploidy, Sex-Chromosome Disorders & Aberrations — Test 2 — 20 questions, CSIR-NET style.

What this test covers

Aneuploidy notation (2n+1, 2n-1, 2n-2)
Down, Turner, Klinefelter, XYY syndromes
Deletions & inversions
Robertsonian translocations & uniparental disomy

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5.6 Aneuploidy, Sex-Chromosome Disorders & Aberrations — Test 2

Q1. The chromosomal condition 2n + 1 is known as:✓ Trisomy

Q2. The chromosomal condition 2n − 2 (loss of both copies of one chromosome) is called:✓ Nullisomy

Q3. Aneuploidy is best represented by the conditions:✓ 2n + 1 and 2n − 1

Q4. A condition with more than two complete homologous sets of chromosomes is termed:✓ Polyploidy

Q5. Down syndrome most commonly arises from:✓ Nondisjunction of chromosome 21

Q6. In Down syndrome, which chromosome is present in three copies?✓ Chromosome 21

Q7. A disease caused by autosomal primary nondisjunction is:✓ Down syndrome

Q8. Klinefelter syndrome results from a sex-chromosome constitution of:✓ XXY

Q9. Turner syndrome has the sex-chromosome composition:✓ XO (45,X)

Q10. A taller-than-average male with mild behavioural/learning difficulties may have the karyotype:✓ 47,XYY

Q11. Which trisomy is generally lethal, with affected conceptuses failing to survive?✓ Trisomy 11

Q12. Cri-du-chat syndrome is caused by:✓ Deletion of the short arm of chromosome 5

Q13. A chromosome whose gene order changes from ABCDEFG to ABCFG has undergone a:✓ Deletion

Q14. An interstitial (intercalary) deletion occurs when:✓ A chromosome breaks at two internal points and loses the segment between them

Q15. A paracentric inversion is one in which:✓ The centromere lies outside the inverted segment (both breaks in one arm)

Q16. The most common inversion observed in the human population involves chromosome:✓ Chromosome 9

Q17. The main reproductive risk to the children of an inversion carrier is:✓ Duplications or deletions in the offspring

Q18. Which Robertsonian translocation carrier has the greatest risk of an abnormal (viable trisomic) child?✓ 45,XX,t(13;21)

Q19. A conceptus trisomic for chromosome 7 loses the paternal chromosome 7 at the first division, leaving two maternal copies. This results in:✓ Uniparental disomy

Q20. Match each syndrome with its chromosomal basis and select the correct option.✓ A-iii, B-i, C-ii, D-iv