Turner's Syndrome Features Explained
Turner's syndrome is a genetic condition that affects females. It occurs when one of the X chromosomes is missing or partially missing. This condition leads to a variety of health issues and developmental differences.
Identifying Non-Characteristic Features
The question asks to identify a feature that is not typical of Turner's syndrome. Let's examine the common characteristics:
- Short stature: This is one of the most common and defining features of Turner's syndrome.
- Lymphedema: Swelling, especially in the neck (cystic hygroma) and extremities at birth, is frequently seen.
- Coarctation of aorta: Cardiovascular problems, particularly the narrowing of the aorta, are significant concerns in Turner's syndrome.
- Microphthalmia: This condition involves abnormally small eyes. While individuals with Turner's syndrome can have various physical differences, microphthalmia is not considered a characteristic feature.
A table summarizing the features can clarify this:
| Feature | Association with Turner's Syndrome |
| Short stature | Yes, very common |
| Lymphedema | Yes, common, especially at birth |
| Coarctation of aorta | Yes, a known cardiac defect |
| Microphthalmia | No, not a typical feature |
Conclusion
Based on the known clinical features associated with Turner's syndrome (XO karyotype), microphthalmia is the condition listed that is not a characteristic feature.
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?
