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Question

Which of the following characteristics are seen in an individual with Down’s syndrome?

A
Short stature with small, round head
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B
Palm crease and furrowed tongue
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C
Retardation in physical, mental and psychomotor development
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D
All of the above
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Solution

The correct option is D All of the above
Down’s syndrome is a chromosomal disorder characterised by the presence of an extra copy of chromosome 21.

Hence, the affected individuals (can be males or females) have three copies of the 21st chromosome instead of two copies per cell.

This condition is called trisomy (2n+1) of the 21st chromosome.

The individuals affected with Down’s syndrome have 47 chromosomes.
The karyotype is represented as 47, XX, + 21 for females and 47, XY, + 21 for males.

This is caused due to nondisjunction (failure of separation of homologous chromosomes or sister chromatids) of the 21st chromosome during cell division.

The affected individuals have a short stature with rounded head, furrowed tongue, wide palm with distinct palm crease and retarded physical, mental and psychomotor development.


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