A 22-year-old man complains about his inability to conceive a child. On physical examination, the patient is noted to be tall (6 ft, 5 in) and exhibits gynecomastia and testicular atrophy. Laboratory studies demonstrate increased serum levels of follicle-stimulating hormone. Cytogenetic studies reveal a chromosomal abnormality. What is the most common cause of this patient's chromosomal abnormality?
A 23-year-old female with a height of 4 feet has a karyotype as shown in the image below. Which among the following indicates the correct etiology?

An endocrinologist decided to give a 7 year old boy testosterone therapy and continued it till puberty. This therapy is likely to:
A child presents with short stature. His bone age is less than chronological age. The height of his parents is normal. What is the most likely diagnosis?
During evaluation of a child with Down syndrome, the following finding is noted. Identify?

A 10-year-old child presents with short stature. Physical examination reveals an upper segment to lower segment ratio of 0.8:1 and evidence of epiphyseal displacement in the spine on imaging. Which of the following conditions is the most likely diagnosis?
Which one of the following is an autosomal recessive disorder?
A 25-year-old man presents for a routine physical examination. The patient is tall (6 ft. 5 in) and on examination he was found to have an early diastolic murmur. His family pedigree is as given below. Which of the following is the mode of inheritance by which the disease is likely to be transmitted?

25-year-old man presents for a routine physical examination. The patient is tall and on examination, he was found to have an early diastolic murmur. His family pedigree is given below (image attached). Which of the following is the mode of inheritance by which the disease is likely to be transmitted?

On USG finding of cystic hygroma in fetus is suggestive of
Get full access to all questions, explanations, and performance tracking.
Scan to download app