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Q.

Which of the following characters are seen in an individual with trisomy of chromosome number 21?

(a)   Palm crease

(b)   Mental retardation

(c)   Gynaecomastia

(d)   Loss of skin pigmentation   

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a

(b) and (c) are correct

b

(a) and (b) are correct

c

(a) and (c) are correct

d

(b) and (d) are correct

answer is B.

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Detailed Solution

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The cause of Down’s Syndrome is the presence of an additional copy of the chromosome number 21 (trisomy of 21). The affected individual is short statured with small round head, furrowed tongue and partially open mouth. Palm is broad with characteristic palm crease. Physical, psychomotor and mental development is retarded.

Gynecomastia is observed in people with Klinefelter's syndrome.

Patients with phenylketonuria show increased L-phenylalanine in blood, which leads to mental retardation and loss of pigmentation of skin and hair.

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