Question:

Identify which one of the given pair of options is correct with respect to Down's syndrome and Turner's syndrome

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Down's syndrome involves trisomy 21, while Turner's involves a missing X chromosome.
Updated On: Apr 18, 2025
  • c
  • d
  • a
  • b
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The Correct Option is A

Solution and Explanation

  • Syndrome Characteristics:
    • Down's syndrome: Caused by an extra chromosome 21 (trisomy 21), leading to short stature, broad face, and intellectual disability.
    • Turner's syndrome: Caused by the absence of one X chromosome (45,X), resulting in short stature, broad chest, and sterile females with underdeveloped ovaries.
  • Option Analysis:
    • (a) Short-statured individual & Gynaecomastia in man: Down's fits short stature, but Turner's causes female characteristics, not gynaecomastia (male breast enlargement, seen in Klinefelter's). Incorrect.
    • (b) Round, partially open mouth & head, overall masculine development: Down's has round face, but Turner's females are not masculine. Incorrect.
    • (c) Broad physical features and mental development retarded & palm, sterile females with rudimentary ovaries: Down's includes broad features and mental retardation, Turner's includes sterile females with underdeveloped ovaries. Correct.
    • (d) Additional copy of an X-chromosome & Absence of an X-chromosome: Down's is due to an extra chromosome 21, not X; Turner's is due to the absence of one X chromosome. Incorrect.
  • Conclusion: The correct answer is (1) (c), as it accurately matches the symptoms of Down's and Turner's syndromes.
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