Question

During a medical investigation, an infant was found to possess an extra copy of chromosome no. 21. Identify the disorder the child is suffering from. Describe the symptoms the child is likely to develop later in life.

Hint:

Down’s syndrome is caused by nondisjunction leading to trisomy 21 and is associated with both physical and mental developmental delays.

Answer 1

Step 1: The child is suffering from Down’s syndrome, a genetic disorder caused by trisomy of chromosome 21.
Step 2: Symptoms and characteristics include:

• Intellectual disability and delayed development.
• Distinct facial features — flat facial profile, upward slanting eyes.
• Poor muscle tone and short stature.
• Increased risk of congenital heart defects and respiratory issues.