PATHOLOGY

PATHOLOGY MCQ

GENETICS AND DISEASE

Question [CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
Achondroplasia is a dominant human disorder that results in dwarfism. If two people that are heterozygous for achondroplasia have a child, what is the probability it will be tall? (3.2.1)
A
0%
B
25%
C
50%
D
75%
E
100%
Explanation: 

Detailed explanation-1: -Inheritance. Achondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 80 percent of people with achondroplasia have average-size parents; these cases result from new mutations in the FGFR3 gene.

Detailed explanation-2: -When both parents have achondroplasia, the chance for them, together, to have a child with normal stature is 25 percent. Their chance of having a child with achondroplasia is 50 percent.

Detailed explanation-3: -If one parent has achondroplasia, the infant has a 50% chance of inheriting the disorder. If both parents have the condition, the infant’s chances of being affected increase to 75%. However, most cases (about 80%) appear as spontaneous mutations.

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