Trisomy 21

(Down Syndrome)
BY: CHRISTABELLE INTONG
A Brief History
Down Syndrome is a genetic disorder that is caused
by abnormal cell division which results when there
is extra genetic material from chromosome 21. It is
the most common genetic chromosomal disorder.
Down Syndrome was named after a physician, John
Langdon Down. He was the first person to identify it
in 1866. In 1959, a French pediatrician, Jerome
Lejeune found out that those who have Down
syndrome have an extra chromosome.
The term that was first used for Down syndrome
was Mongolism because the features of the
children look like the people from Mongolia. The
Asians complained that the name was offensive.
Later on Americans changed it to Down Syndrome.
People today in the United Kingdom still call it
Downs
John Langdon Down
 How?

Chromosomes
are made up of DNA and protein.
Human cells normally have 46 chromosomes and can be arranged in 23 pairs. Pairs 22 and

23 are alike in both male and female.

The 23rd pair are the X and Y chromosomes, which determines the gender of the baby.

During conception a baby receives genetic data (DNA) from the parents and comes in the

form of 46 chromosomes. The baby inherits 23 chromosomes from each of the father and
the mother.
Human Cells divide into two different ways: Mitosis and Meiosis.

Mitosis is when one cell becomes two cells and have the same type/number as the parent

cell.
Meiosis is when one cell splits into two and contains half of the amount of chromosomes as

the parent cell.

 Many errors can happen during cell division.
In meiosis, the pairs of chromosomes are supposed to split up and go to
different spots in the dividing cell, this event is called "disjunction.
Sometimes one pair doesn't divide, and the whole pair goes to one spot.
This means that in the resulting cells, one will have 24 chromosomes and
the other will have 22 chromosomes. This accident is called
"nondisjunction."
In Down syndrome, 95% of all cases are caused by this event: one cell has
two 21st chromosomes instead of one, so the resulting fertilized egg has
three 21st chromosomes. Thats why the scientific name is trisomy 21.
The meaning of trisomy is the presence of a third chromosome.
Symptoms
Symptoms include:
Flattened facial
features and nose
Short neck
Small ears and mouth
Poor Muscle Tone
Small head
Slow development of
speech
Intellectual disabilities
Learning disabilities
 MOST OF THE TIME DOWN
SYNDROME IS NOT INHERITED AND
IT DOES NOT SPREAD. IT IS CAUSED
BY A MISTAKE IN CELL DIVISION.
TRANSLOCATION DOWN SYNDROME
Genes (ANOTHER FORM OF DOWN
SYNDROME) CAN ACTUALLY PASSED
DOWN FROM PARENT TO CHILD.
ONLY 4% OF CHILDREN WITH DOWN
SYNDROME HAVE TRANSLOCATION.
 Tests and Diagnosis
Blood Tests
Blood tests calculate the
levels of plasma protein and
HCG. If there are abnormal
levels it indicates that there
could be a problem with the
babys development.
Ultrasound Amniocentesis
The ultrasound is used Is when they use a
to specify the length of needle to get a sample
the babys neck. of the amniotic fluid that
is surrounding the fetus.
Risks

Down Syndrome is not fatal but it can link to many health problems.
Down Syndrome can lead to other problems:
Hearing loss
Ear infections
Eye diseases
Heart Defects
Leukemia
Infectious
Facts/ Statistics

Down Syndrome occurs 1 out of 691 births.

6,000 children are born with down syndrome each year
According to the National Down Syndrome Society, there are
more than 350,000 people living with Down syndrome in the
United States.
Life expectancy has increased in recent decades from 25 in
1983 to 60 today.
People with Down syndrome are valuable, loving, caring, and
unique individuals!
 Work Cited

Down Syndrome. Mayo Clinic, http://www.mayoclinic.org/diseases-conditions/down-

syndrome/basics/definition/con-20020948. Accessed 7 April 2017.
Down Syndrome: Trisomy 21. American Pregnancy Association, 2015.
http://americanpregnancy.org/birth-defects/down-syndrome/. Accessed 8 April 2017.
Facts about Down Syndrome. Centers for Disease Control and Prevention. U.S.
Department of Health & Human Services.
https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html. Accessed 7 April 2017.
Leshen, Len. Trisomy 21: The story of Down Syndrome Down Syndrome: Health
Issues. http://www.ds-health.com/trisomy.htm. Accessed 8 April 2017
Trisomy 21. Childrens Hospital of Philadelphia, http://www.chop.edu/conditions-
diseases/trisomy-21-down-syndrome. Accessed 8 April 2017.