Trisomy 21 is associated with: September 2008
**Question:** Trisomy 21 is associated with: September 2008
**Core Concept:** Trisomy 21, also known as Down syndrome, is a genetic disorder caused by the presence of an extra copy of chromosome 21. This results in the overexpression of genes on chromosome 21, leading to the characteristic features seen in individuals with Down syndrome.
**Why the Correct Answer is Right:** Down syndrome is a result of aneuploidy, which is the presence of an extra copy of a chromosome. In this case, the extra chromosome is chromosome 21. The presence of an extra chromosome leads to the overexpression of genes on chromosome 21, causing the developmental and physiological abnormalities associated with Down syndrome.
**Why Each Wrong Option is Incorrect:**
A. September 2008: This is a reference to the year the question was asked, not a relevant factor in understanding Down syndrome.
B. Other chromosomes: The question specifically mentions trisomy 21, focusing on the chromosome involved, not other chromosomes.
C. Chromosome 14: Down syndrome is specifically associated with trisomy 21, not chromosome 14.
D. Aneuploidy: Although aneuploidy is a key concept in understanding Down syndrome, the specific cause is trisomy 21, not any other form of aneuploidy.
**Clinical Pearl:** Down syndrome is a cause of developmental delays and intellectual disability, along with distinctive physical features such as flattened facial features, small head, and heart defects. Early diagnosis and management can help improve the quality of life for individuals with Down syndrome and their families.
**Correct Answer:** D. Aneuploidy
**Explanation:** The correct answer is related to the genetic cause of Down syndrome, specifically aneuploidy. Aneuploidy refers to the presence of an abnormal number of chromosomes, which is the underlying cause of Down syndrome. In Down syndrome, individuals have an extra copy of chromosome 21, leading to the overexpression of genes on this chromosome and the symptoms associated with the condition.