Chromosomal anomalies more than 20% is associated with aEUR’
**Question:** Chromosomal anomalies more than 20% is associated with a specific syndrome.
Core Concept:
Chromosomal anomalies refer to abnormalities in the number or structure of chromosomes in an individual. Syndromes are groups of signs and symptoms that occur together due to a specific genetic cause.
**Why the Correct Answer is Right:**
The correct answer is **C. Klinefelter syndrome**, which is associated with an extra X chromosome in males (47,XXY). Chromosomal anomalies over 20% are relevant as they can lead to a recognizable pattern of manifestations. In the case of Klinefelter syndrome, the additional X chromosome causes delayed puberty, small testes, infertility, gynecomastia, and mild to moderate learning difficulties.
**Why Each Wrong Option is Incorrect:**
A) Option A is incorrect because chromosomal anomalies below 20% do not typically result in recognizable syndromes.
B) Option B is incorrect as there are other types of syndromes associated with specific chromosomal anomalies, but none of them have over 20% prevalence.
D) Option D is incorrect as Klinefelter syndrome is not the only syndrome associated with chromosomal anomalies, but it is the correct answer as it has over 20% prevalence.
**Clinical Pearl / High-Yield Fact:**
Klinefelter syndrome is often underdiagnosed as the symptoms can be subtle, and genetic counselling is essential for affected individuals and their families. Early diagnosis may help improve fertility outcomes and provide appropriate support and interventions.
In summary, a chromosomal anomaly with over 20% prevalence is associated with a recognizable syndrome, like Klinefelter syndrome (XYY, XXXY, etc.). These anomalies, although rare, can lead to recognizable syndromes with specific features that help clinicians make the diagnosis.