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Question

Epicanthal skin fold above the eyes and transverse palmar crease are typical symptoms of

A
Cri-du-chat
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B
Klinefelter syndrome
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C
Down syndrome
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D
Turner syndrome
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Solution

The correct option is C Down syndrome
Loss of half of the short arm of chromosome 5 causes cri-du-chat syndrome characterized by mewing like the cry of newborn. The presence of one or more extra copy of X-chromosome in males causes Klinefelter syndrome. The affected individual has 44+ XXY /44+XXXY / 44+XXXXY chromosomes. The presence of an extra copy of X-chromosome produces some feminine characters in otherwise male individuals. They are sterile feminised males with enlarged breasts. Turner syndrome is monosomy caused by the absence of one copy of X-chromosome from females. These females carry only single copy of genes present on X-chromosomes and hence are sterile females with the undeveloped breast. Down syndrome is trisomy-21, i.e., presence of chromosome 21 in three copies. The affected individuals are mentally retarded (mildly to moderately) and suffer from congenital heart defects with a very high (1/100) risk of acute leukemia. They are short in stature and have a broad, short skull; hyper flexibility of joints; and excess skin on the back of the neck, epicanthal skin fold (upper eyelid skin covers inner corner of the eye) above the eyes and transverse palmar crease. The correct answer is C.

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