KROK 1 2013 – Question 43 · KROK (Medicine) · Biology
A 35-year-old male patient has been referred by an andrologist for the genetic counselling for the deviations of physical and mental development. Objectively: the patient is tall, has asthenic constitution, gynecomastia, mental retardation. Microscopy of the oral mucosa cells revealed sex chromatin (single Barr body) in 30% of cells. What is the most likely diagnosis?
- A. Cushing pituitary basophilism
- B. Down syndrome
- C. Recklinghausen’s disease
- D. Klinefelter syndrome
- E. DiGeorge syndrome
Hint
Ask what the presence of sex chromatin in a man implies about his sex chromosomes, then match that with his tall build, breast development and impaired mental development.
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