Question 252 · LEK · Autosomal dominant
The syndrome inherited in an autosomal dominant pattern, with the phenotype most similar to Turner syndrome (short stature, short neck, low ears), and with additional pulmonary artery stenosis and hypertrophic cardiomyopathy is:
- A. Noonan syndrome.
- B. Prader-Willi syndrome.
- C. Angelman syndrome.
- D. Turner syndrome.
- E. Klinefelter syndrome.
Hint
Look for a single-gene RAS-pathway disorder affecting both sexes, with a normal karyotype and right-sided rather than left-sided heart lesions.
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