Image Based Question-65460

By looking at the karyotype shown below, which among the following is the most probable diagnosis?

A. Down syndrome.

B. Klinefelters syndrome.

C. Turner syndrome.

D. None of the above.

Correct Answer » A Explanation

Ans: A. Down Syndrome

The karyotype shown in the picture above represents Down syndrome because of the presence of numerical anomalies of the chromosomes i.e aneuploidy due to trisomy of 21st chromosome as marked by a red box in the picture above.

• Down syndrome  also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.
• It is typically associated with physical growth delays, characteristic facial features and mild to moderate intellectual disability