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Name: Nishra Keshav

Class: XII
Section: B
Roll no: 8
Subject: Biology



I would like to express my special thanks of gratitude to

my teacher Sofia Ma’am who gave me the golden
opportunity to do this wonderful project on the topic
Down Syndrome, which also helped me in doing a lot of
Research and I came to know about so many new things I
am really thankful.
Secondly I would also like to thank my parents and
friends who helped me a lot in finalizing this project
within the limited time frame.


Divine Child International School, Adalaj


This is to certify that Nishra Keshav, a student of

class XII has successfully completed the research on
the Project Down Syndrome under the guidance of
Mrs. Sofia (subject teacher) during the year 2019-
2020 in Partial Fulfillment of Biology practical

Name of Examiner: Name of Biology Teacher:

Signature of Teacher:
Signature of Examiner


Down Syndrome
By: Nishra Keshav
School: DCIS
Class: XII sci-B


Discovery of Down Syndrome 7
What is Down syndrome 8
Causes of Down Syndrome 9
Normal Cell division 10
Prenatal Test 12
Diagnosis and Symptoms 13
Developmental Rate 14
Management 15
Research 16
Bibliography 20


When was Down Syndrome Discovered?

It wasn’t until the late nineteenth century, when John Langdon Down, an English
physician, published an accurate description of a person with Down syndrome. It
was this scholastic work, published in 1866, that earned Down the recognition as
the “father” of the syndrome. There were other people who had recognized the
characteristics of this syndrome but it was Down who described the condition as a
distinct and separate entity. In recent history, advances in medicine and science
have enabled researchers to investigate the characteristics of people with Down
syndrome. In 1959, the French physician Jerome Lejeune identified Down
syndrome as a chromosomal irregularity. Instead of the usual 46 chromosomes
present in each cell, Lejeune observed 47 chromosomes in the cells of individuals
with Down syndrome. It was later determined that an extra partial or complete
chromosome 21 results in the characteristics associated with Down syndrome. In
May of 2000, an international team of scientists successfully identified and
categorized each of the approximately 329 genes on chromosome 21. This led to
great advances in Down Syndrome research.


What is Down Syndrome?

Down Syndrome is a genetic disorder caused by the presence of an extra copy of
chromosome 21 which is also referred to as “Trisomy 21”. Occurring in 1 out of 800
live births, it is the most frequent genetic cause of mild to moderate mental

Why is it referred to as a Genetic Condition?

Our human body is made of cells (Cells are the basic unit of life) and all cells
contains a center, called a nucleus, in which genetic material is stored. This genetic
material is known as genes. Genes carries the codes responsible for all our inherited
characteristics (From parents). Genes are grouped along rod-like structures called
chromosomes. The nucleus of each cell contains 46 chromosomes, half of which
are inherited from each parent (23 from mother and 23 from dad) . In individuals
with Down syndrome, however, the cells usually contain 47 chromosome instead
of 46, chromosomes. The additional chromosome is present in the chromosome
number 21. This excess genetic material, in the form of additional genes along
chromosome 21, results in Down syndrome.

How is Down Syndrome Detected?

The extra 21st chromosome is detected by using a procedure called a karyotype. A
karyotype is a visual display of the chromosomes grouped by size, number and
shape. Chromosomes may be studied by examining blood or tissue cells. Individual
chromosomes are identified, stained and numbered from largest to smallest.
Ninety-five percent of occurrences of Down syndrome result from the presence of
an extra (third) chromosome, a condition described as Trisomy 21.


Trisomy 21
Causes of Down Syndrome:
Down syndrome is usually caused by an error in cell division called nondisjunction.
However, there are two other types of chromosomal abnormalities known as
mosaicism and translocation, are also implicated in Down syndrome although to a
much lesser extent.
Mosaicism refers to a situation in which different cells in the same individual have
different numbers or arrangements of chromosomes. It is called “mosaicism”
because, in a way, the cells of the body are similar to the tiles of a mosaic. In a
mosaic piece of art, each tile is different. They have different shapes and colors.

Translocation refers to when a part of chromosome 21 breaks off during cell

division and attaches to another chromosome.

Nondisjunction refers to a faulty cell division that results in an embryo with three
copies of chromosome 21 instead of the usual two. Prior to or at conception, a pair
of 21st chromosome in either the sperm or the egg fails to separate. As the embryo
develops, the extra chromosome is replicated in every cell of the body. This error
in cell division is responsible for 95 percent of all cases of Down syndrome.


Normal cell division:

During fertilization, the 23 chromosomes from the egg and the other 23 chromosomes from the
sperm are combined resulting in 46 chromosomes. Later Mitosis occurs giving rise to two cells
containing 46 chromosomes and this process continues.


The reason of non-junction is quite unknown, but many researchers were surprised
to find out that 80 percent of children born with Down syndrome are born to
women under 35 years of age. This occurs because younger women have higher
fertility rates. It does not contradict the fact that the incidence of births of children
with Down syndrome dramatically increases with the age of the mother. Once a
woman has given birth to a baby with Down syndrome, it is estimated that the risk
of having a second child with Down syndrome is about one in 100. However, the
age of the mother may also be a risk factor. There is no scientific evidence that
environmental factors or the parents’ activities before or during pregnancy have an
effect on any of the three types of Down Syndrome.


Prenatal Test:
There are two types of tests available to pregnant women: screening and
diagnostic. The widely used screening test is the Triple Screen. It is a combination
of three tests that measure quantities of various substances in the blood (alpha-
fetoprotein, human chorionic gonadotropin and unconjugated estriol) and
together with the woman’s age, estimate her risk of having a child with Down
syndrome. These screening tests are typically offered between 15 and 20 weeks
of gestation.
A “quad” test that measures an additional substance, inhibin-A which has recently
been introduced to provide a more accurate screening.
Screenings are often performed in combination with a detailed sonogram.
Sonograms can show some physical or developmental traits that are helpful in
calculating the risk of Down syndrome. However, these tests alone cannot
provide a sufficient diagnosis of Down syndrome. It is important to note that
screening tests are of limited value. Some women who undergo these tests will be
given false positive readings, and some will be given false negative readings. The
Triple Screen test has 5 to 8 percent false positive rate and has a false negative
rate of 35 to 40 percent, detecting about 60 to 65 percent of all incidences of
Down syndrome.
Another test is Amniocentesis which is usually performed between 12 and 20
weeks of gestation, chorionic villus sampling (CVS) between eight and 12 weeks
and percutaneous umbilical blood sampling (PUBS) after 20 weeks.
Improvements in the sensitivity and predictive value of prenatal tests are
ongoing. It is important to consult a medical professional or genetic counselor for
the most up-to-date and appropriate information.


Diagnosis of Down Syndrome in a Newborn:

The diagnosis of Down syndrome is usually suspected after birth as a result of the
baby’s appearance. There are many physical characteristics that form the basis for
suspecting an infant has Down syndrome. Many of these characteristics are found
to some extent in the general population. Therefore, if Down syndrome is
suspected, a karyotype will be performed to determine the diagnosis.
Some infants with Down syndrome have only a few of these traits, while others
have many. Among the most common traits are:
• Muscle hypotonia – low muscle tone
• Flat facial profile – a somewhat depressed nasal bridge and a small nose
• an upward slant to the eyes
• an abnormal shape of the ear
• Hyper-flexibility – an excessive ability to extend the joints
• Curvature of the fifth finger, caused by under development of the middle
phalanx (bone)
• Excessive space between first and second toe
• Large tongue in relation to size of mouth

Down Syndrome and Health Problems

People with Down syndrome are at increased risk for certain health problems.
While there is an increased risk for certain medical conditions compared to the
general population, advances in medicine have rendered most of these health
problems treatable and most people with Down syndrome lead healthy lives.
Congenital heart defects, increased susceptibility to infection, respiratory and
hearing problems, obstructed digestive tracts, sleep apnea and childhood
leukemia occur with greater frequency in children with Down syndrome. Adults
with Down syndrome are also at increased risk for Alzheimer’s disease, thyroid


conditions and sleep apnea. Most of the people born with Down syndrome today
have an average life expectancy of 55 years, with some living into their seventies.

Down Syndrome and Development:

All people with Down syndrome experience cognitive delays, however, the effect
is usually mild to moderate and is not indicative of the many strengths and talents
that each individual possesses. Children with Down syndrome learn to sit, walk,
talk, play, toilet train and do most other activities — only somewhat later than
their peers without Down syndrome.


Management Process:
Down Syndrome cannot be cured but it can be managed. Some ways to manage
Down Syndrome are:
1) Down Syndrome Testing
2) Frequent checkups and screenings
3) Counselling sessions
4) Inclusive programs, Individualized education programs

Some Interesting facts:

1) 1995: First Buddy talks
2) 2006: First World Down Syndrome Day
3) 400,00 people with Down Syndrome living in United States
4) 1 in every 691 babies is born with Down Syndrome


Throughout the years, our views of life on Down Syndrome have drastically changed. Before this a lot of
people where not aware of Down Syndrome but due to scientific development mostly in tools made a
lot of change. The NICHD ( National Institute of child health and development) has conducted and
supported Down syndrome research since its founding, including development of animal models to help
study the syndrome, examination of specific genes and gene groups that may play a role in the
syndrome, understanding how maternal age plays a role in the disorder, and development of new
methods of diagnosis prenatally and postnatally.

Many people still are unaware of this syndrome and even if most of the people are aware, they tend to
have a lot of questions regarding this issue. Hence, I contacted an Institute who takes care of people
with special needs in hope to get answers regarding this. The Prayatna - For people with special need
Institute which is located in Pune helped me get a few answers that were generally asked by people.

Questions Asked and their Reply:

Q1) Can a person with Down Syndrome live on their own?

Answer By the Institute: Independence can be an important issue for people with Down syndrome as
they get older. Often, people with Down syndrome can live on their own or with a supportive
roommate; there is a wide spectrum, from no support, to support once a week, to full-time support.

Q2) Can a person with Down Syndrome get married?

Answer by the Institute: Everyone deserves to be loved. There have been many Down Syndrome
Patients who have got married to a person who is completely fit.

Q3) Can a person with down syndrome make their own meals?

Answer by the Institute: With practice and help, people with Down syndrome are able to do many of
the things that all people are able to do. This includes cooking.

Q4) Can a person with Down Syndrome learn to read?


Answer by the Institute: All people with Down syndrome learn, develop and achieve. People with Down
syndrome have developmental differences that affect their learning style. It is important to identify the
best methods of teaching each child.

Q5) Can a person with Down syndrome drink Alcohol?

Answer by the Institute: Alcohol affects people with Down syndrome no differently than it would
another person.

Q6) Which parent does down syndrome come from?

Answer by the Institute: Some studies have shown that maternal age is a factor in the likelihood of
having a child with Down syndrome, especially after the age of 35. However, new studies have shown
that paternal age can also be a factor.

Q7) Is down Syndrome Inherited?

Answer by the Institute: Down syndrome is not hereditary, it is a randomly occurring condition which
effects on in seven hundred and eighty one. There are three types of Down syndrome Trisomy 21,
Translocation and Mosaicism. Of the three, translocation can be inherited. However, Translocation
Down syndrome appears in just 2-3% of people who have Down syndrome, and just one third of those
people inherit it.

Q8) How does Down Syndrome affect intellectual development?

Answer by the Institute: All people with Down syndrome learn, develop and achieve. People with Down
syndrome have developmental differences that affect their learning style. It is important to identify the
best methods of teaching each child. Ideally, through early intervention programs, this begins soon after

Q9) Is Down Syndrome same as Autism?


Answer by the Institute: It is possible for a person to have Down syndrome and be Autistic. There are
resources available for people who have this dual-diagnosis available at Down Syndrome-Autism

Q10) Are people with Down Syndrome always happy?

Answer by the Institute: People with Down syndrome are not all alike. A popular generalization is
associating people with Down syndrome as always loving, smiling, or happy. Just like the general
population, people with Down syndrome experience a full range of emotions.

Q11) Are babies with Down Syndrome bigger?

Answer by the Institute: The size of a baby with Down syndrome is not any different than any other
child. There are other factors that determine if a newborn has Down syndrome. If a baby is suspected to
have Down syndrome, they are given a blood test to see the number of chromosomes in the cells. A
baby may be underweight due to feeding issues; if you are concerned, speak to your doctor.

Q12) Can People with Down syndrome play sports?

Answer by the Institute: People with Down syndrome are often encouraged to participate in sports at a
young age, to help build muscle tone, which can be naturally lower in people with Down syndrome.
There are many avenues for people with Down syndrome to participate in physical activities – from
organized sports through local sports teams to Special Olympics. It should be noted that children with
Down syndrome should be checked for atlanto-axial instability and get their doctors approval for playing
some sports such as gymnastics, contact sports etc.

Q13) How long does a person with down syndrome live?

Answer by the Institute: The life expectancy of a person with Down syndrome continues to grow due to
increases in services and supports available. Quality of life is a significant factor for this community;
many people with Down syndrome are living beyond 60 years old.

Q14) Which Trisomy is Down Syndrome?


Answer by the Institute: There are 3 types of Down syndrome Trisomy 21, Translocation and
Mosaicism. Trisomy 21 – 95% of people with Down syndrome have Trisomy 21, three copies of
chromosome 21, instead of two, which occurs during cell division. Translocation – 2-3% of people with
Down syndrome have a translocation pattern, Part of chromosome 21 breams off and attaches itself to
another chromosome (often the chromosome 14), Two-thirds of translocation occurrences are
spontaneous while the other third is inherited from a parent. Mosaicism – 2% of people with Down
syndrome have Mosaic Down syndrome, Cell division occurs in one of the early cell divisions after
conception, resulting in some cells having three copies of chromosome 21 instead of two, Like their
peers, a person with Down syndrome has diverse abilities. An individual’s level of functioning is not
dependent upon the determination of one of these types of Down syndrome.

Q15) What are the odds of Down Syndrome?

Answer by the Institute: The statistical odds of an occurrence of Down syndrome is 1 in seven hundred
and eighty -one births.

Q16) Can a person with Down Syndrome got to college?

Answer by the Institute: There are many universities and colleges that have programs for people with
Down syndrome to gain life skills and take classes with their typical peer group. Most of the time, these
programs are called Inclusive Post-Secondary Education Programs.



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2) Mayo Clinic. (2019). Down syndrome - Symptoms and causes. [online] Available at:
20355977 [Accessed 3 May 2019].
3) Needleman, Jessica. “Down Syndrome Project.”, 11 Feb. 2013,
4) Wedro, Benjamin. “What Is the Main Cause of Down Syndrome? Symptoms, Treatment &
Prevention.” MedicineNet,