Down Syndrome

(Trisomy 21)

An informational guide to understanding this type of Down Syndrome

What other names are there for this disorder? (Any common names?)

Other than trisomy 21, there are no other names for this disorder.

*there are three different types of down syndrome- Trisomy 21, Mosaicism, and Translocation

What causes the disorder?

• occurs when there is an extra chromosome in the chrome 21 pair
• People have 47 chromosomes in each cell instead of 46
• Women older than 35
• greater chance their child has down syndrome

A Picture of the Chromosomes

Credits to the National Down Syndrome Society

What gene or chromosome is affected by this disorder? (X, Y, #21)

Chromosomes 21 is affected,:

• A normal human body has two chromosome 21
• Someone with down syndrome (trisomy 21) has 3 chromosome 21.
• an extra chromosome 21 originates.

What the affected chromosome looks like compared to the same chromosome in a non-affected human.

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Credits to Down Syndrome Association of the Brazos Valley

Are there prenatal tests for this disorder?

two main test for this disorder:

• amniocentesis
• Amniocentesis- an ultrasound is used to guide the doctor where to insert the needle in the amniotic sac and safely remove fluid that is taken to a lab for analyzing.
• chorionic villus sampling.There are two ways to perform this
• Chorionic villus sampling- one way is similar to amniocentesis but goes through the abdomen of a woman’s placenta.
• Another way is An ultrasound guides a thin catheter through the cervix of a woman’s placenta. The chorionic villi cells are gently intaken into the catheter.

What are the symptoms?

• Different facial structure
• Small ears
• Slant in their eyes
1. Almond shaped
• Weak muscle tone
• Learn the basic skills less quicker than average babies such as crawling

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What population is affected? Can anyone be a candidate for the disorder?

• If a woman has a child with Down Syndrome they have a high chance of having another child with down syndrome.
• Hispanic people are most affected
• Having a translocation* for Down syndrome,
• The chances a woman has of giving birth to a child with down syndrome increases with her age.
• See next slide for chart

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* Translocation- a chromosomal segment moved from one position to another within the same chromosome or another chromosome.

Chart

How is it inherited? (I it sex-linked, recessive, and/or dominant?What kind of medical assistance will the affected child need? Will further assistance be needed, as the child grows older? What is the long-term outlook for the child?

• It is not inherited.
• You can only inherit translocation down syndrome.
• When the child turns 50, it will experience a gradual decline in intelligence.
• The child is expected to live till the age of his 60s

Are there any treatments or cures?

As of now, there are no cures for down syndrome, and there is no standard treatment for down syndrome.

Treatments for down syndrome are based on the individual’s needs, strengths and weaknesses.

• There is an intervention program and a team of specialists are sent to provide care for the individual.
• The treatment also consists of therapy and self care.

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Could this disorder have been prevented?

Down syndrome happens in the wound and cannot be prevented. However, it can be detected through series of tests. Down syndrome happens at random.

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Can this individual have children in the future? Will those children be affected?

• Individual can have children in the future.
• Their children will not be passed down syndrome

Can this individual have children in the future? Will those children be affected?

• Sometimes the pregnancy ends in
• a miscarriage,
• a premature birth,
• or need a caesarian section.
• Most individuals decide not to have children because of
• the responsibilities
• hard work
• and maybe financial help.
• The individual can have children
• They will not be affected by down syndrome genetically but still can develop it in the wound
• The person will have difficulty raising children

Current status of research on this disorder

Doctors are still looking for cures and the research status is unknown.

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Works Cited

"Down syndrome - Genetics Home Reference." U.S. National Library of Medicine. National Institutes of Health, n.d. Web. 21 May 2017.

"Down Syndrome: Trisomy 21 - Causes, Symptoms and Risks." American Pregnancy Association. N.p., 18 May 2016. Web. 21 May 2017.

Newberger, David S. "Down Syndrome: Prenatal Risk Assessment and Diagnosis." Down Syndrome: Prenatal Risk Assessment and Diagnosis - American Family Physician. N.p., 15 Aug. 2000. Web. 21 May 2017.

"Translocation." Translocation - Biology-Online Dictionary. N.p., n.d. Web. 21 May 2017.

"Understanding a Diagnosis of Down Syndrome." National Down Syndrome Society. N.p., n.d. Web. 21 May 2017.

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The End