Six months pregnant, an expectant mother had a routineultrasound that showed that the limbs of the fetus wereunusually short. Her physician suspected that the babymight have a genetic form of dwarfism called achondroplasia,an autosomal dominant trait occurring with a frequency of about1 in 27,000 births. The parents were directed to a genetic counselorto discuss this diagnosis. In the conference, they learnedthat achondroplasia is caused by a mutant allele. Sometimes itis passed from one generation to another, but in 80 percent ofall cases it is the result of a spontaneous mutation that arisesin a gamete of one of the parents. They also learned that mostchildren with achondroplasia have normal intelligence and a normallife span. What information would be most relevant to concluding whichof the two mutation origins, inherited or new, most likelypertains in this case? How does this conclusion impact on thiscouple’s decision to have more children?
Six months pregnant, an expectant mother had a routine
ultrasound that showed that the limbs of the fetus were
unusually short. Her physician suspected that the baby
might have a genetic form of dwarfism called achondroplasia,
an autosomal dominant trait occurring with a frequency of about
1 in 27,000 births. The parents were directed to a genetic counselor
to discuss this diagnosis. In the conference, they learned
that achondroplasia is caused by a mutant allele. Sometimes it
is passed from one generation to another, but in 80 percent of
all cases it is the result of a spontaneous mutation that arises
in a gamete of one of the parents. They also learned that most
children with achondroplasia have normal intelligence and a normal
life span.
What information would be most relevant to concluding which
of the two mutation origins, inherited or new, most likely
pertains in this case? How does this conclusion impact on this
couple’s decision to have more children?
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