Biology

Genetics Disorder
Down
Syndrome
By : Group
A

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2.
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Jawad Al-Khatib
Hamza Hazem
Abdurrahman Midani
Ceaser Attar
Ahmed Hesham

What are Genes #1

A gene is a locus of DNA that encodes a functional

RNA or protein product, and is the molecular unit of
heredity. The transmission of genes to an organism's
offspring is the basis of the inheritance of phenotypic
traits. Most biological traits are under the influence
of polygenes (many different genes) as well as the
geneenvironment interactions. Some genetic traits
are instantly visible, such as eye color or number of
limbs, and some are not, such as blood type, risk for
specific diseases, or the thousands of basic
biochemical processes that comprise life.

What are Genes #2

Genes can acquire mutations in their sequence,

leading to different variants, known as alleles, in
the population. These alleles encode slightly
different versions of a protein, which cause
different phenotype traits. Colloquial usage of
the term "having a gene" (e.g., "good genes,"
"hair color gene") typically refers to having a
different allele of the gene. Genes evolve due to
natural selection or survival of the fittest of the
alleles.

What are Genes #3

The concept of a gene continues to be refined as new

phenomena are discovered. For example, regulatory
regions of a gene can be far removed from its coding
regions, and coding regions can be split into several
exons. Some viruses store their genome in RNA
instead of DNA and some gene products are
functional non-coding RNAs. Therefore, a broad,
modern working definition of a gene is any discrete
locus of heritable, genomic sequence which affect an
organism's traits by being expressed as a functional
product or by regulation of gene expression.

What is Genetic Disorder #1

Genes are the building blocks of heredity. They are passed

from parent to child. They hold DNA, the instructions for
making proteins. Proteins do most of the work in cells. They
move molecules from one place to another, build structures,
break down toxins, and do many other maintenance jobs.
Sometimes there is a mutation, a change in a gene or
genes. The mutation changes the gene's instructions for
making a protein, so the protein does not work properly or is
missing entirely. This can cause a medical condition called a
genetic disorder.
You can inherit a gene mutation from one or both parents. A
mutation can also happen during your lifetime.

What is Genetic Disorder #2

There are three types of genetic disorders:

1. Single-gene disorders, where a mutation affects one
gene. Sickle cell anemia is an example.
2. Chromosomal disorders, where chromosomes (or
parts of chromosomes) are missing or changed.
Chromosomes are the structures that hold our
genes. Down syndrome is a chromosomal disorder.
3. Complex disorders, where there are mutations in two
or more genes. Often your lifestyle and environment
also play a role. Colon cancer is an example.

What is Down Syndrome #1

Down syndrome or Down's syndrome, also

known as trisomy 21, is a genetic disorder
caused by the presence of all or part of a third
copy of chromosome 21. It is typically
associated with physical growth delays,
characteristic facial features, and mild to
moderate intellectual disability. The average of
a young adult with Down syndrome is 50,
equivalent to the mental age of an 8- or 9year-old child, but this varies widely.

What is Down Syndrome #2

The parents of the affected individual are typically

genetically normal. The extra chromosome occurs by
random chance. There is no known behavior or
environmental factor that changes the risk. Down
syndrome can be identified during pregnancy by
prenatal screening followed by diagnostic testing, or
after birth by direct observation and genetic testing.
Since the introduction of screening, pregnancies with
the diagnosis are often terminated. Regular screening
for health problems common in Down syndrome is
recommended throughout the person's life.

What are the Types of

Down Syndrome

There are three different types of Down

syndrome: Standard Trisomy 21, Translocation,
and Mosaicism. Standard Trisomy 21 is when the
extra chromosome 21 comes from either the egg
or sperm cell. Between 90% and 95% of all
Down syndrome is Standard Trisomy 21

What are the Symptoms of

Down Syndrome #1

Physical Symptoms
Common physical signs of Down syndrome include 2:
1.
Decreased or poor muscle tone
2.
Short neck, with excess skin at the back of the neck
3.
Flattened facial profile and nose
4.
Small head, ears, and mouth
5.
Upward slanting eyes, often with a skin fold that comes out from the upper
eyelid and covers the inner corner of the eye
6.
White spots on the colored part of the eye Wide, short hands with short fingers
7.
A single, deep, crease across the palm of the hand
8.
A deep groove between the first and second toes
In addition, physical development in children with Down syndrome is often slower
than development of children without Down syndrome. For example, because of
poor muscle tone, a child with Down syndrome may be slow to learn to turn over,
sit, stand, and walk. Despite these delays, children with Down syndrome can learn
to participate in physical exercise activities like other children. It may take children
with Down syndrome longer than other children to reach developmental milestones,
but they will eventually meet many of these milestones.

What are the Symptoms

of Down Syndrome #2

Intellectual and Developmental Symptoms

Cognitive impairment, problems with thinking and learning, is common in
people with Down syndrome and usually ranges from mild to moderate.
Only rarely is Down syndrome associated with severe cognitive impairment.
Other common cognitive and behavioral problems may include:
1. Short attention span
2. Poor judgment
3. Impulsive behavior
4. Slow learning
5. Delayed language and speech development
Most children with Down syndrome develop the communication skills they
need, although it might take longer for them to do so compared with other
children. Early, ongoing speech and language interventions to encourage
expressive language and improve speech are particularly helpful. 5

How is Down Syndrome

Diagnosed #1

Diagnostic tests during pregnancy

If your screening test results are positive or
worrisome, or you're at high risk of having a
baby with Down syndrome, you might consider
more testing to confirm the diagnosis. Your
health care provider can help you weigh the pros
and cons of these tests.
.

How is Down Syndrome

Diagnosed #2

Diagnostic tests that can identify Down syndrome include:

Amniocentesis. A sample of the amniotic fluid surrounding
the fetus is withdrawn through a needle inserted into the
mother's uterus. This sample is then used to analyze the
chromosomes of the fetus. Doctors usually perform this test in
the second trimester, after 15 weeks of pregnancy. The test
carries a slight risk of miscarriage, but risk increases if it's done
before 15 weeks.
Chorionic villus sampling (CVS). In CVS, cells are taken
from the placenta and used to analyze the fetal chromosomes.
Typically performed in the first trimester, after 10 weeks of
pregnancy, this test appears to carry a somewhat higher risk of
miscarriage than second trimester amniocentesis.

How is Down Syndrome

Diagnosed #3

Cordocentesis. In this test, also known as percutaneous

umbilical blood sampling or PUBS, fetal blood is taken from a
vein in the umbilical cord and examined for chromosomal
defects. Doctors can perform this test between 18 and 22
weeks of pregnancy. This test carries a significantly greater risk
of miscarriage than does amniocentesis or CVS, so it's only
offered when results of other tests are unclear and the desired
information can't be obtained any other way.
Preimplantation genetic diagnosis is one option available for
couples undergoing in vitro fertilization who are at increased
risk of passing along certain genetic conditions. The embryo is
tested for genetic abnormalities before it's implanted in the
womb.

How is Down Syndrome

Diagnosed #3

Diagnostic tests for newborns

After birth, the initial diagnosis of Down
syndrome is often based on the baby's
appearance. But the features associated with
Down syndrome can be found in babies without
Down syndrome, so your health care provider
will likely order a test called a chromosomal
karyotype. Using a sample of blood, this test
analyzes your child's chromosomes. If there's an
extra chromosome 21 present in all or some
cells, the diagnosis is Down syndrome.

What is the Treatment of

Down Syndrome #1

There is no specific treatment for Down syndrome. A child born with a

gastrointestinal blockage may need major surgery immediately after birth.
Certain heart defects may also require surgery.
When breast-feeding, the baby should be well supported and fully awake.
The baby may have some leakage because of poor tongue control.
However, many infants with Down syndrome can successfully breast-feed.
Obesity can become a problem for older children and adults. Getting plenty
of activity and avoiding high-calorie foods are important. Before beginning
sports activities, the child's neck and hips should be examined.
Behavioral training can help people with Down syndrome and their families
deal with the frustration, anger, and compulsive behavior that often occur.
Parents and caregivers should learn to help a person with Down syndrome
deal with frustration. At the same time, it is important to encourage
independence.

What is the Treatment of

Down Syndrome #2

Adolescent females and women with Down syndrome are usually able to get
pregnant. There is an increased risk of sexual abuse and other types of
abuse in both males and females. It is important for those with Down
syndrome to:
Be taught about pregnancy and taking the proper precautions
Learn to advocate for themselves in difficult situations
Be in a safe environment
If the person has any heart defects or other heart problems, antibiotics may
need to be prescribed to prevent a heart infection called endocarditis.
Special education and training is offered in most communities for children
with delays in mental development. Speech therapy may help improve
language skills. Physical therapy may teach movement skills. Occupational
therapy may help with feeding and performing tasks. Mental health care
can help both parents and the child manage mood or behavior problems.
Special educators are also often needed.

Questions #1

1. What are Genes

2. What is Genetic Disorder

3. What is Down Syndrome

Question #2

1. What are the Types of Down Syndrome

2. What are the Symptoms of Down Syndrome

3. How is Down Syndrome Diagnosed

4. What is the Treatment of Down Syndrome

Project Log

Topic

By :

What are Genes

Abdurrahman Midani

What is Genetic Disorder

Hamza Midani

What is Down Syndrome

Ahmed Hesham

What are the Types of Down

Syndrome

Abdurrahman Midani

What are the Symptoms of

Down Syndrome

Jawad Fuad

How is Down Syndrome

Diagnosed

Jawad Fuad

What is the Treatment of Down

Syndrome

Ceaser Attar

The End