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Seven months pregnant, an expectant mother was undergoing a routine ultrasound.

ID: 16078 • Letter: S

Question

Seven months pregnant, an expectant mother was undergoing a routine ultrasound. While prior tests had been normal, this one showed that the limbs of the fetus were unusually short. The diagnosis was that the baby had a genetic form of dwarfism called achondroplasia but both parents had no family history for this condition. Achondroplasia dwarfism is an autosomal dominant mutation with a frequency of about 1 in 25,000 births. Answer the following questions:

1) How could her baby have achondroplasia if there were no history of this condition on either side of the family?

Explanation / Answer

http://en.wikipedia.org/wiki/Achondroplasia

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