Mrs. A is hesitant about children having kinky hair disease because her two sisters had sons who had died from kinky hair disease. Her mother’s brother also died of the same condition. Which of the following is the possible mode of inheritance in her family? (AI 2004)

Correct Answer: X-linked recessive
Description: Kinky hair disease /Menkes syndrome is: X- linked Recessive disorder. Mutations is genes encoding for copper- transpoing protein ATP7A , leading to copper deficiency. Characteristic findings include kinky hair, growth failure, & nervous system deterioration. Manifested only in males. Females are not affected, so they must be carriers.
Category: Pathology
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