Question
Which of the following abnormality is seen in the given karyotype?
| A. |
High pitched cry
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| 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)
|
(Ref: Harrison I9/e p2350)
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