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.
The chromosomal condition of the above syndrome is

• A. Autosomal aneuploidy
• B. Allosomal hyperaneuploidy
• C. Allosomal hypoaneuploidy
• D. Autosomal partial deletion

Answer 1

The correct option is A Autosomal aneuploidy

Trisomy 21 results from an extra chromosome in the 21 pair of autosomal chromosomes. The condition is the most common autosomal trisomy or autosomal aneuploidy where there is an abnormal number of chromosome (here, autosomes) in a cell. 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).