Amy has autosomal dominant achondroplasia, but both of her parents are normal he

Question

Amy has autosomal dominant achondroplasia, but both of her parents are normal height. Ruling out infedility, there are several explanations described below for how this might happen. Which is the BEST explantation. Explain.

a. There was a mutation in a somatic cell in one of Amys parents.

b There was a mutation in a somatic cell in both of Amys parents.

C. There was a mutation in a germline cell (sperm or egg) in one of Amys parents.

d There was a mutation in a germline cell (sperm or egg) in both of Amys parents.

Explanation / Answer

C. There was a mutation in a germline cell (sperm or egg) in one of Amy’s parents.

A mutation in germiline of both parents would be lethal, hence the possibility is that one of the parents had germline mutations. Somatic mutation are not passed on to the offsprings, hence we can rule out this.

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