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Question

Epicanthal skin fold and simian crease are characteristics of

A
Down's syndrome
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B
Klinefelter's syndrome
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C
Thalassemia
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D
Turner's syndrome
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Solution

The correct option is B Down's syndrome
Down's syndrome is a genetic chromosome problem. It was first described by John Langdon Down in 1866. Someone with Down's syndrome is trisomy at 21 i.e., the presence of chromosome 21 in three copies. It is an autosomal disorder and is characterised by the eyes that slant upwards and have an extra skin fold on the upper eyelid known as an epicanthal fold. This skin fold covers the inner corner of their eye next to their nose. The single palmar crease is a single, deep, crease across the palm of the hand previously referred to as simian crease.

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