x_linked_dominant_flashcards

Question 1

What are some conditions inherited in an X-linked dominant fashion?

Answer 1

Alport’s syndrome, Rett syndrome, Vitamin D resistant rickets.

Question 2

What percentage of Alport’s syndrome cases are inherited in an X-linked dominant fashion?

Answer 2

Around 85%.

Question 3

What other inheritance patterns are seen in Alport’s syndrome?

Answer 3

10-15% of cases are inherited in an autosomal recessive fashion with rare autosomal dominant variants existing.

Question 4

What condition was previously classified as X-linked dominant but is now known to be inherited in an autosomal dominant fashion?

Answer 4

Pseudohypoparathyroidism.