Question
Which of the following abnormality is seen in the given karyotype?
A. High pitched cry
B. Round face with protruding tongue
C. Short stature with webbed neck
D. Gynecomastia with long thin limbs.
Show Answer
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Correct Answer » D
Explanation
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Ans: D. Gynecomastia with long thin limbs.
- Given karyotype shows 2X chromosomes and I Y chromosome.
- Hence, Klinefelter syndrome (47, XXY).
- Gynecomastia with long thin limbs – Seen in Klinefelter syndrome.
Klinefelter’s syndrome:
- Characterized by small testes, infertility, gynecomastia, tall stature/increased leg length & hypogonadism in phenotypic males.
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Condition
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Seen in
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High pitched cry
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Cri-du-chat syndrome
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Round face with protruding tongue
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Down syndrome (Trisomy 21)
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Short stature with webbed neck
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Turner syndrome (45, X)
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Gynecomastia with long thin limbs
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Klinefelter’s syndrome (47, XXY)
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Important chromosomal abnormalities
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Involving autosomes
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Involving sex chromosomes
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- Down syndrome (Trisomy 21)
- Edward syndrome (Trisomy 18)
- Patau syndrome (Trisomy 13)
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- Klinefelter’s syndrome (47, XXY)
- Turner syndrome (45, X)
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(Ref: Harrison I9/e p2350)
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