Question

What is the genetic disorder in which an individual has an overall masculine development, gynaecomastia, and is sterile?

• A. Turner's syndrome
• B. Klinefelter's syndrome
• C. Edward syndrome
• D. Down's syndrome

Answer 1

The Correct Option is B

The question is about identifying the genetic disorder characterized by overall masculine development, gynaecomastia, and sterility from the given options. Let's analyze each option to determine the correct answer.

1. Turner's Syndrome: This is a chromosomal disorder affecting females, where one of the X chromosomes is missing or partially missing. Common features include short stature and infertility, but it does not include masculinization or gynaecomastia. Hence, this is not the correct answer.
2. Klinefelter's Syndrome: This genetic disorder affects males and is caused by an extra X chromosome, leading to the karyotype 47,XXY. It is characterized by overall masculine development along with breast enlargement (gynaecomastia) and sterility. The features described in the question align perfectly with Klinefelter's syndrome, making it the correct option.
3. Edward Syndrome: Also known as Trisomy 18, this is a severe chromosomal condition caused by an extra chromosome 18. It leads to developmental delays and severe medical complications, but not the features described in the question.
4. Down's Syndrome: Caused by an extra chromosome 21 (Trisomy 21), it leads to physical growth delays, characteristic facial features, and mild to moderate intellectual disability. Gynaecomastia and overall masculine development are not characteristics of Down's syndrome.

Based on the analysis, Klinefelter's Syndrome is the correct answer, as it matches all the characteristics described in the question: overall masculine development, gynaecomastia, and sterility. This genetic disorder results from the presence of an extra X chromosome in males, affecting their physical and reproductive development.