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Paediatric

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Genetic Disorders

Question
8 out of 49
 

Kinky hair desease is disorder where an affected child has peculiar white stubby hair, does not grow brain degeneration is seen and dies by age of two years. Mrs A is hesitant about having children 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 inheritence in her family - (AIPG 2011)



A X-linked recessive
B X-linked dominant

C Autosomal recessive
D Autosomal dominant

Ans. A

X-linked Recessive

o The clues in this question ale -

1) Only males are manifesting disease.

2) Females are acting as carriers sisters sons had suffered from the disease'

o Both these are features of X-linked recessive disorders.

About other options

o In X-linked dominant disorder the females will also manifest the disease.

o In autosomal dominant and autosomal recessive disorders, both males and females are affected.

Genetic Disorders Flashcard List

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