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Question
A 10 year old patient is found to have the following clinical features: slanting eyes with epicanthic fold of skin in the eyelid, hypertelorism, dysplastic ears, mangoloid face and protruding tongue.
Which one of the following is the correct chromosomal compliment of the above syndrome?
A 10 year old patient is found to have the following clinical features: slanting eyes with epicanthic fold of skin in the eyelid, hypertelorism, dysplastic ears, mangoloid face and protruding tongue.
Which one of the following is the correct chromosomal compliment of the above syndrome?
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Solution
The correct option is A 47 chromosomes due to extra chromosome 21
Trisomy 21 results from an extra chromosome in the 21 pair of autosomal chromosomes. the condition is the most common autosomal trisomy. The symptoms are:
severe mental retardation, Mongoloid face with flat nasal bridge, an open mouth with a furrowed, protruding tongue and small, malformed teeth, prominent malformed ears with absent lobes, a flat occiput with a short, broad neck, loose skin at the back of the neck and over the shoulders, short, broad hands, short curved little fingers with dysplastic structures, hypertelorism, upper-eyelid eversion.
Thus, the correct answer is option (A).
Trisomy 21 results from an extra chromosome in the 21 pair of autosomal chromosomes. the condition is the most common autosomal trisomy. The symptoms are:
severe mental retardation, Mongoloid face with flat nasal bridge, an open mouth with a furrowed, protruding tongue and small, malformed teeth, prominent malformed ears with absent lobes, a flat occiput with a short, broad neck, loose skin at the back of the neck and over the shoulders, short, broad hands, short curved little fingers with dysplastic structures, hypertelorism, upper-eyelid eversion.
Thus, the correct answer is option (A).
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