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Genetic mutation: Identify the
genetic mutation responsible for
fragile X-associated mental
2. Clinical presentation: Describe
and discuss how it causes the
clinical syndrome of
developmental delay, joint
hyperextensibility, large testes,
and facial abnormalities.
3. Identification of carrier: Identify
which parent is the probable
carrier of the genetic mutation?
4. Phenotypic effects explained:
Explain why this parent and the
grandparents are phenotypically
unaffected. Include a discussion of
how this disease impacts the
family across the lifespan.
5. Likelihood for affecting future
children: Discuss the likelihood
that the unborn child will be