Karyotype Pattern Analysis
The patient is an adolescent male presenting with specific clinical signs: gynaecomastia, small testes, undetectable testosterone, and elevated follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels. These findings point towards primary hypogonadism.
Clinical Indicators of Hypogonadism
- Gynaecomastia & Small Testes: Suggest impaired testicular function.
- Low Testosterone: Confirms hypogonadism.
- High FSH & LH: Indicate the pituitary gland is trying to stimulate non-responsive testes (primary testicular failure).
Association with Klinefelter Syndrome
The described clinical picture is highly suggestive of Klinefelter syndrome. This condition occurs in males who have an extra X chromosome.
Identifying the Karyotype
Klinefelter syndrome is characterized by a specific karyotype pattern. Among the options provided:
- 46 XY: Normal male karyotype.
- 45 XO: Turner syndrome (affects females).
- \(47, \text{XXY}\): Klinefelter syndrome.
- 21 Trisomy: Down syndrome.
The symptoms align perfectly with the genetic makeup of \(47, \text{XXY}\).
Important Questions from Congenital Disorders
- To prevent recurrence, expectant mothers with a previous fetus with neural tube defect should receive folic acid daily at the dose of :
Consider the following statements regarding non-invasive prenatal screening (NIPS) for screening high risk pregnancies for aneuploidies:
1. It is carried out on maternal blood.
2. It is done before 10 weeks gestation.
3. It has a negative predictive value of about 98%.
4. Invasive testing is needed for confirmation of a positive test.
Which of the statements given above are correct?
- The risk of Down syndrome is 100% in the offspring, if:
Which of the following are examples of genomic imprinting?
1. Angelman syndrome
2. Williams syndrome
3. Prader-Willi syndrome
4. DiGeorge syndrome
Select the correct answer using the code given below:
- To reduce the risk of neural tube defects in the baby, which of the following are recommended?
