Patients with Down’s syndrome normally have:
## **Core Concept**
Down's syndrome, also known as Trisomy 21, is a genetic disorder caused by the presence of an extra copy of chromosome 21. This extra genetic material alters the development of the brain and body, leading to intellectual disability and distinct physical characteristics. The condition is associated with various medical issues, including congenital heart defects, vision and hearing problems, and an increased risk of infections.
## **Why the Correct Answer is Right**
The correct answer, , refers to an extra copy of chromosome 21. This is the defining genetic feature of Down's syndrome. Normally, humans have 46 chromosomes arranged into 23 pairs. In Trisomy 21, there is an extra chromosome 21, making a total of 47 chromosomes. This extra chromosome disrupts the normal development of the body and brain.
## **Why Each Wrong Option is Incorrect**
- **Option A:** This option is incorrect because it does not accurately describe the genetic abnormality associated with Down's syndrome.
- **Option B:** This option is incorrect because it refers to another type of genetic abnormality, not Trisomy 21.
- **Option C:** This option is incorrect because it does not accurately represent the chromosomal abnormality seen in Down's syndrome.
## **Clinical Pearl / High-Yield Fact**
A key clinical pearl is that patients with Down's syndrome are at an increased risk for certain medical conditions, such as congenital heart defects (especially atrioventricular septal defect), early onset Alzheimer's disease, and an increased susceptibility to infections. Early screening and management of these conditions are crucial in improving the quality of life for individuals with Down's syndrome.
## **Correct Answer:** . Trisomy 21