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2. What are the different types of inheritance patterns leading to genetic disorders?
(Define the inheritance patterns).
a. Autosomal Dominant- caused by a mutation of a single gene pair (heterozygous) on a
chromosome. A dominant allele prevails over a normal allele.
b. Autosomal recessive disorders- caused by mutations of two gene pairs (homozygous) on
a chromosome
c. X-linked recessive disorders- Caused by a mutation on the X-chromosome.
Compare the genetic disorders.
Case Study 2
G.G. tells you she has four siblings and two of them have been diagnosed with Down
syndrome.
What should she be told about the genetic link to Down syndrome?
I would explain to her that it is a chromosome disorder characterized by an extra
copy of chromosome 21 for a total of 3 copies instead of 2 and that there is no
individual abnormal gene on the chromosome. Because it is an alteration on the
chromosome that happens from unknown triggers, it is not possible to predict its
occurrence, however it may be detected through Low AFP levels during
pregnancy.
Case Study 3
G.G. adds she is married and able to afford them, but with the health problems we
have in my family, Id rather stick to having pets.
What can you tell her about genetic testing?
Genetic testing such as prenatal diagnostic testing done by amniocentesis may be
done to detect changes in chromosomes of a fetus before birth. This information
can be used to decide if the couple wants to terminate the pregnancy if genetic
testing results are positive that indicate the fetus has down syndrome.
Case Study 4
Case Study 5