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Genetic Observing

Table of Contents
Page 1: Part 1 Genetic Disorders
Page 2: Part 2 Pedigrees

Page 3: Part 3 Genetic Testing

CRI-DU-CHAT SYNDROME
The name of this syndrome is French for
"cry of the cat," referring to the distinctive cry of
children with this disorder. The cry is caused by
abnormal larynx development. Cri-du-chat is
caused by a deletion on the short arm of
chromosome 5.
A deletion is caused by a break in the DNA
molecule that makes up a chromosome. In most
cases, the chromosome break occurs while the
sperm or egg cell is developing. When this sperm
or egg cell is fertilized, the child will develop cridu-chat (Crying cat) syndrome. The parent,
however, does not have the break in any other
cells of the body and does not have the
syndrome. In fact, breaks are so rare that it is
very unlikely to happen again if the parent has
another child, but it is possible for a child to
inherit a broken chromosome from a parent who
also has the disorder.
The Crying cat syndrome has many affects on the body. Chromosome
deletion results in missing genes that can cause many abnormalities. These
may include low birth weight, skin folds over the eyes, a small jaw, low-set
ears, an bridge of the nose, and digits that are webbed/fused together. As their
bodies develop, children with the Crying cat syndrome often have trouble
walking and speaking. Mental disabilities can range from delayed
development and behavior problems to severe mental retardation.
Some major symptoms of the Crying cat is that babies with it are
usually small at birth, and they may have respiratory problems. Often, the
larynx doesn't develop correctly, which causes the signature cat-like cry, which
is why is called Crying cat syndrome. People who have cri-du-chat have very
distinctive features. They may have a small head, an unusually round face, a
small chin, and widely set eyes. Some other problems occur inside the body,
as well. A small number of children who have this syndrome have heart
defects, muscular or skeletal problems, hearing or sight problems, or poor

muscle tone. They may have behavior problems (such as hyperactivity or


aggression) and severe intellectual disability. If no major organ defects or other
critical medical conditions exist, life expectancy is normal.
A small portion of infants with crying cat syndrome is born with serious organ
defects or other life threatening complications that can result in death. Most fatal
complications occur before a childs first birthday. Children who reach the age of 1,
though, generally have a normal life expectancy. Still, the child will most likely have
lifelong physical and/or development complications, and these will depend on the
severity of the syndrome.
As the child develops into a teenager and then an adult, regular therapy and
counseling should be made available. Physical therapy and special learning groups can
help the child learn almost normal verbal skills. It isnt impossible to teach a child with
the Crying cat syndrome how to live an almost normal life. A special school is
recommended, and public school isnt the greatest idea. A teacher trained in coaching and
teaching a mentally challenged child will likely provide much better results than a public
school teacher. If the parent cannot afford special schooling, they can look into
scholarships and special tuition programs that are offered. Another way is to give them
some speech therapy. Another is also Communication alternatives such as sign language,
since speech is usually delayed, often severely occupational therapy to teach coping
strategies and new skills.

I
1

II
5

10

15

16

III
11

12

KEY
male with straight hair
male with curly hair
female with straight hair
female with curlyhair

13

14

Question 1
Neither numbers 5 nor 6 have straight hair. How did they have a daughter with straight
hair?
Answer 1
Their daughter has straight hair because somewhere in the moms or dads family, there
must have been a person with straight hair.
Question 2
If female 13 marries a man with straight hair, what are the chances that their child will
have curly hair?
Answer 2
The chances are pretty much even, because the curly hair gene is dominant on the
mothers side, while the straight hair gene is dominant on the fathers side.
Question 3
Which male in generation III is most likely to have a child with curly hair?
Answer 3
Male 14 is most likely to have a child with curly hair because his mother has curly hair.

Part 3
Genetic tests are tests on blood and other tissue to find genetic disorders. Doctors
use genetic tests to find genetic diseases in unborn babies, to find out if people carry a
gene for a disease and might pass it on to their children, and for figuring out the type or
dose of a medicine that is best for a certain person, among other reasons. Genetic tests put
people in control of information that helps them make solid decisions about their future.
For example, if you learn your body will have a tendency to develop Alzheimer's
Disease, you might make preventive choices in your younger years to give yourself the
best chance of not developing it. Also, by having your genes screened, your information
will be put into a database of information which can be shared by researchers and
scientists around the world. Because most genetic testing is so new, there are still many
questions it cannot answer: how accurate are the test, who can translate the information
(many doctors are not trained for this), the privacy of the information, and what to do
with that information beyond prevention methods. Still, genetic testing is very important
and my friend should be tested.
One of the primary features of Marfan disease is a defect in the large blood vessel
that distributes blood from the heart to the rest of the body (the aorta). If the genetic test
found that you are positive for the disease, your doctor can determine the right treatment
and management plan. Test results might also help a person make life decisions, such as
family planning or insurance coverage.
A positive test does not predict with 100% certainty that you will develop that
disorder, but it does mean you are at high risk of developing the Marfan disease at some
point in your life. Knowing youre at a higher risk can guide screening to detect and treat
disease early and improve your outcome. It also help if any of your offspring will have it,
or in simpler terms, if you can spread it through out your family line.
A negative result may mean that you are at a very low (but not zero) risk of ever
developing the Marfan disease. It may also mean that your children are at a very low risk.
A negative test can mean that you dont need to have close monitoring to look for the
heart problem because your risk is so low. You should still be careful just in case you do
have it.
The most important part for any genetic testing is knowledge. With this knowledge
your doctor can help diagnose a certain disease and can help figure out the type or dose of
a medication that is best for you. You can also find out if you have a disease before you
have symptoms. It can also provide peace of mind if the results are negative and the risks
of you getting the disease and passing it on to your children are low.