Which pediatric genetic disorder is characterized by the karyotype , short stature, webbed neck (pterygium colli), shield chest with widely spaced nipples, and coarctation of the aorta?
Answer and explanation
Correct answer: C. Turner syndrome
- Step 1: Turner syndrome is a complete or partial monosomy of the X chromosome ().
- Step 2: Phenotypic features in females include short stature, ovarian dysgenesis (streak gonads), webbed neck, cubitus valgus, broad shield chest, and left-sided cardiac anomalies (bicuspid aortic valve, coarctation).
Answer
Turner syndrome.
Why not the others: 'Klinefelter syndrome' is in phenotypic males (tall stature, gynecomastia, small testes); 'Down syndrome' is trisomy 21 (epicanthal folds, single palmar crease); 'Noonan syndrome' is an autosomal dominant disorder affecting males and females with normal karyotype.
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