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Q.
If A female individual is with small round head, furrowed tongue, partially open mouth and broad palm with characteristic palm crease. Also the physical, psychomotor and mental development is retarded. The karyotype analysis of such an individual will show
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a
45 chromosomes with XO sex chromosomes
b
trisomy of chromosome 21
c
47 chromosomes with XXY sex chromosomes
d
47 chromosomes with XYY sex chromosomes
answer is D.
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Detailed Solution

The given characteristics are the features of Down’s syndrome caused by the presence of an extra copy of chromosome 21 (trisomy 21).
Down’s syndrome was first described by British physician John Langdon Down in 1866. Individuals with Down’s syndrome often exhibit shorter stature, relatively smaller and rounder head, furrowed tongue and many loops on fingertips. One of the most recognisable characteristics is the presence of a single transverse crease
across the palm of the hand, known as the ‘simian crease.’ Individuals with Down’s syndrome typically experience mild to moderate intellectual disability. Congenital heart defects are relatively common in
individuals with Down‘s syndrome.
(1) 47 chromosomes with XXY sex chromosomes causes Klinefelter syndrome. It occurs in males who have an extra X chromosome (XXY). Individuals with Klinefelter syndrome are infertile with underdeveloped testes, low IQ and gynaecomastia (swelling of breast tissue in men).
(2) 45 chromosomes with X0 sex chromosomes causes Turner syndrome. It occurs in females who lack one X
chromosome (X0). Turner syndrome is characterised by short stature, webbed neck, broad shield-like chest and
rudimentary ovaries.
(3) 47 chromosomes with XYY sex chromosomes causes Jacob’s syndrome. It occurs in males who have
an extra Y chromosome.
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