Trisomy definition :Acondition in which an extra copy of a chromosome is present in the cell nuclei,

causing developmental abnormalities

Down Syndrome (Trisomy 21) in Children

What is Down syndrome in children?
Down syndrome is a genetic disorder. It is also called trisomy 21. It includes certain birth
defects, learning problems, and facial features. A child with Down syndrome also may have
heart defects and problems with vision and hearing. How severe or mild these problems are
varies from child to child.

Down syndrome is one of the most common genetic birth defects. It affects about 1 in
800 babies. Adults with Down syndrome may live about 60 years, but this can vary.

What causes Down syndrome in a child?

When a baby is conceived, a normal egg cell and normal sperm cell start with 46 chromosomes.
The egg and sperm cells then divide in half. The egg and sperm cells then have 23 chromosomes
each. When a sperm with 23 chromosomes fertilizes an egg with 23 chromosomes, the baby will
then have a complete set of 46 chromosomes. Half are from the father and half are from the
mother.

But sometimes an error occurs when the 46 chromosomes are being divided in half. An egg or
sperm cell may keep both copies of chromosome number 21, instead of just 1 copy. If this egg or
sperm is fertilized, then the baby will have 3 copies of chromosome number 21. This is called
trisomy 21.

Sometimes the extra number 21 chromosome or part of it is attached to another chromosome in

the egg or sperm. This may cause translocation Down syndrome. This is the only form of Down
syndrome that may be inherited from a parent.

A rare form is called mosaic trisomy 21. This is when an error in cell division happens after the
egg is fertilized. People with this syndrome have both normal cells and some cells with an extra
chromosome number 21.

Which children are at risk for Down syndrome?

A mother’s age at her child’s birth is the only factor linked to the risk of having a baby with
Down syndrome. This risk increases with each year of age, especially after age 35. But younger
women are more likely to have babies than older women. So most babies with Down syndrome
are born to women younger than 35.
What are the symptoms of Down syndrome in a child?
Symptoms can occur a bit differently in each child. They can include:

 Eyes that slant upward

 Small ears that may fold over slightly at the top
 Small mouth that makes the tongue appear large
 Small nose with a flattened bridge
 Short neck
 Small hands with short fingers
 2 instead of 3 palm creases, including one across the palm and one around the base of the
thumb
 Short height
 Loose joints

Most children with Down syndrome will have some but not all of these features.

Down syndrome can also include:

 Heart defects
 Intestinal problems
 Vision problems
 Hearing problems
 Thyroid problems
 Blood conditions, such as leukemia, and risk for infections
 Learning problems

How is Down syndrome diagnosed in a child?

Chromosome problems such as Down syndrome can often be diagnosed before birth. This is
done by looking at cells in the amniotic fluid or from the placenta. This can also be done by
looking at the amount of the baby’s DNA in the mother's blood. This is a noninvasive prenatal
screening. These tests are very accurate.

Fetal ultrasound during pregnancy can also show the possibility of Down syndrome. But
ultrasound is not 100% accurate. Problems from Down syndrome may not be seen with
ultrasound.

After birth, your baby may be diagnosed with a physical exam. The healthcare provider may also
take a blood sample. This is checked in a lab to find the extra chromosome.

How is Down syndrome treated in a child?

There is no cure for Down syndrome. But a child with Down syndrome may need treatment for
problems such as:
  Heart defects. About half of babies with Down syndrome have heart defects. Some
defects are minor and can be treated with medicines. Others may need surgery. All babies
with Down syndrome should be looked at by a pediatric cardiologist. This is a healthcare
provider who specializes in children’s heart diseases. Babies with Down syndrome
should also have an echocardiogram. This is a test that looks at the structure and function
of the heart by using sound waves. This exam and test should be done in the first 2
months of life. This is so that any heart defects can be treated.
 Intestinal problems. Some babies with Down syndrome are born with intestinal
structure problems that need surgery.
 Vision problems. Common problems include crossed eyes, nearsightedness or
farsightedness, and cataracts. Most eyesight problems can be made better with
eyeglasses, surgery, or other treatments. Your child should see an eye doctor (pediatric
ophthalmologist) before he or she turns 1 year old.
 Hearing loss. This is caused by fluid in the middle ear, a nerve defect, or both. Your
child should get regular hearing tests so any problems can be treated early. This will help
with language development.
 Other health problems. Children with Down syndrome may have thyroid problems and
leukemia. They also tend to have many colds, as well as bronchitis and pneumonia. Your
child should get regular medical care and stay up to date on vaccines.
 Learning problems. These vary widely from child to child. They can be mild, moderate,
or severe. But most learning problems are mild to moderate. Many children are helped
with early intervention and special education.

Some people claim that giving high-dose vitamins to children with Down syndrome will improve
their learning and development problems. No studies have proved that this works.

Talk with your child’s healthcare providers about the risks, benefits, and possible side effects of
all treatments.

What are possible complications of Down syndrome in a

child?
Complications of Down syndrome vary depending on the body organ affected and the severity of
the problem. Problems include certain birth defects, learning problems, and facial features. A
child with Down syndrome also may have heart defects and problems with vision and hearing.
How severe the complications are varies from child to child. Treatment will also vary depending
on the body organ affected and the severity of the problem. Your child’s healthcare provider will
discuss treatment options with you.

What can I do to help prevent Down syndrome in my child?

Researchers don’t know how to prevent the chromosome errors that cause this disorder. There is
no reason to believe parents can do anything to cause or prevent Down syndrome in their child.
For women who have had one child with Down syndrome, the chance of having another baby
with Down syndrome depends on several things. Age is one factor. Most babies with Down
syndrome are born to women younger than 35. This is because women under 35 have more
babies than women over 35.

Your healthcare provider may refer you to a genetic counselor. This expert can explain the
results of chromosome tests in detail. He or she can talk about risks for future pregnancies and
what tests are available to diagnose chromosome problems before a baby is born.

Some medical organizations advise that all pregnant women of any age be offered screening for
Down syndrome. Talk with your healthcare provider about this prenatal screening test.

How can I help my child live with Down syndrome?

Children with Down syndrome can usually do most things that any young child can do. They can
walk, talk, dress themselves, and be toilet trained. But they usually do these things at a later age
than other children. The exact ages of these development milestones is different for each child.
Early intervention programs that begin when a child is a baby can help the child reach his or her
potential.

A child with Down syndrome can go to school. Special programs beginning in the preschool
years help children with Down syndrome develop skills as fully as possible. Many children are
helped with early intervention and special education. They can also enter a regular classroom.
Many children will learn to read and write. They can take part in childhood activities, both at
school and in their community.

Your child may need physical, occupational, and speech therapy to help with his or her
development. Talk with your healthcare provider, other families, and national Down syndrome
support agencies to learn what to expect with Down syndrome. You can also learn what may be
helpful in raising a child with Down syndrome.

Special work programs are designed for adults with Down syndrome. Many adults with this
disorder can hold regular jobs. More and more adults with Down syndrome live semi-
independently in community group homes. They take care of themselves, do household chores,
develop friendships, do leisure activities, and work in their communities.

Some people with Down syndrome marry. Most men with Down syndrome cannot father a child.
In any pregnancy, a woman with Down syndrome has a 1 in 2 chance of conceiving a child with
Down syndrome. Many of the pregnancies are miscarried.

When should I call my child’s healthcare provider?

Call the healthcare provider if your child has:

 Symptoms that don’t get better, or get worse

  New symptoms

Key points about Down syndrome in children

 Down syndrome (trisomy 21) is a genetic disorder. It includes certain birth defects,
learning problems, and facial features. A child with Down syndrome also may have heart
defects and problems with vision and hearing.
 A mother’s age at her child’s birth is the only factor linked to the risk of having a baby
with Down syndrome. This risk increases with each year of age, especially after age 35.
 There is no reason to believe parents can do anything to cause or prevent Down
syndrome in their child. Researchers don’t know how to prevent the chromosome errors
that cause this disorder.
 Down syndrome can often be diagnosed before birth. After birth, your baby may be
diagnosed with a physical exam. The healthcare provider may also take a blood sample.
 There is no cure for Down syndrome, but treatment is available to help your child.
 Your child may need physical, occupational, and speech therapy to help with his or her
development. Many children are helped with early intervention and special education.

Next steps
Tips to help you get the most from a visit to your child’s healthcare provider:

 Know the reason for the visit and what you want to happen.
 Before your visit, write down questions you want answered.
 At the visit, write down the name of a new diagnosis, and any new medicines, treatments,
or tests. Also write down any new instructions your provider gives you for your child.
 Know why a new medicine or treatment is prescribed and how it will help your child.
Also know what the side effects are.
 Ask if your child’s condition can be treated in other ways.
 Know why a test or procedure is recommended and what the results could mean.
 Know what to expect if your child does not take the medicine or have the test or
procedure.
 If your child has a follow-up appointment, write down the date, time, and purpose for that
visit.
 Know how you can contact your child’s provider after office hours. This is important if
your child becomes ill and you have questions or need advice.
 You might have heard about

trisomy 18 in the news, or your doctor may have told you that your unborn baby has this
condition.

Here are answers to common questions about trisomy 18, including what causes it, how it's
diagnosed, and how it affects babies
Trisomy 18 Explained
Trisomy 18 is a chromosomal abnormality. It's also called Edwards syndrome, after the doctor
who first described it.

Chromosomes are the threadlike structures in cells that hold genes. Genes carry the instructions
needed to make every part of a baby's body.

When an egg and sperm join and form an embryo, their chromosomes combine. Each baby gets
23 chromosomes from the mother's egg and 23 chromosomes from the father's sperm -- 46 in
total

Sometimes the mother's egg or the father's sperm contains the wrong number of chromosomes.
As the egg and sperm combine, this mistake is passed on to the baby.

A "trisomy" means that the baby has an extra chromosome in some or all of the body's cells. In
the case of trisomy 18, the baby has three copies of chromosome 18. This causes many of the
baby's organs to develop in an abnormal way

There are three types of trisomy 18:

 Full trisomy 18. Theextra chromosome is in every cell in the baby's body. This is by far
the most common type of trisomy 18.
 Partial trisomy 18.The child has only part of an extra chromosome 18. That extra part
may be attached to another chromosome in the egg or sperm (called a translocation). This
type of trisomy 18 is very rare.
 Mosaic trisomy 18. The extra chromosome 18 is only in some of the baby's cells. This
form of trisomy 18 is also rare.

How Many Babies Have Trisomy 18?

Trisomy 18 is the second most common type of trisomy syndrome, after trisomy 21 (Down
syndrome). About 1 in every 5,000 babies is born with trisomy 18, and most are female.

The condition is even more common than that, but many babies with trisomy 18 don't survive
past the second or third trimester of pregnancy.

It can be extremely difficult to hear that your unborn baby has trisomy 13, also known as Patau
Syndrome. You probably have a lot of questions about what caused it and whether or not it can
be treated.
But it’s better that you know everything you can about this chromosomal disorder as early in
your pregnancy as possible. That way you can discuss all of your options with your doctor and
determine what’s best for you and your baby

What is Trisomy 13?

Trisomy 13 is a genetic disorder that your baby gets when she has an extra 13th chromosome. In
other words, she has three copies of her chromosome 13 when she should have just two. It
happens when cells divide abnormally during reproduction, and create extra genetic material on
chromosome 13.

The additional chromosome can come from either the egg or the sperm, but doctors think that the
chances a woman will have a baby with any chromosome abnormality go up after age 35.

The extra 13th chromosome causes severe mental and physical problems. Unfortunately, most
babies born with it don’t live past their first month or year. But some can survive for years.

That’s because there are two different kinds of trisomy 13. Babies can have three copies of
chromosome number 13 in all of their cells, or in only some of them. The symptoms depend on
how many cells have the extra chromosome.

How Is It Diagnosed?
Your doctor might spot physical signs of trisomy 13 during your routine first-trimester fetal
ultrasounds. Or it could show up in tests such as cell-free DNA screening (NIPT) or the PAPP-A
(pregnancy-associated plasma protein A).

These are all screening tests, which means they can’t tell your doctor whether your baby
definitely has trisomy 13. They only alert your doctor that your baby is more likely to have
trisomy 13, and that you need more tests to confirm it.

Your doctor likely will recommend you have a chorionic villus sampling (CVS) or
amniocentesis to be 100% certain.
Keloid causes
Most types of skin injury can contribute to keloid scarring. These include:

 acne scars
 burns
 chickenpox scars
 ear piercing
 scratches
 surgical incision sites
 vaccination sites

An estimated 10 percent of people experience keloid scarring. Men and

women are equally likely to have keloid scars. People with darker skin tones
are more prone to keloids.

Other risk factors associated with keloid formation include:

 being of Asian descent

 being of Latino descent
 being pregnant
 being younger than 30 years of age

Keloids tend to have a genetic component, which means you’re more likely to
have keloids if one or both of your parents have them.

According to one study, a gene known as the AHNAK gene may play a role in
determining who develops keloids and who doesn’t. Researchers found that
people who have the AHNAK gene may be more likely to develop keloid scars
than those who don’t.
If you have known risk factors for developing keloids, you may want to avoid
getting body piercings, unnecessary surgeries, and tattoos. Learn options for
getting rid of keloids and other scars that are common on the legs.

Keloids vs. hypertrophic scars

Keloids are sometimes confused with another more common type of scar
called hypertrophic scars. These are flat scars that can range from pink to
brown in color. Unlike keloids, hypertrophic scars are smaller, and they can go
away on their own over time.

Hypertrophic scars occur equally among genders and ethnicities, and they’re
commonly caused by various forms of physical or chemical injuries, such
as piercings or harsh fragrances.

At first, fresh hypertrophic scars can be itchy and painful, but the symptoms
subside as the skin heals. Learn about all your hypertrophic scar treatment
options.

Home treatment for keloids

The decision to treat a keloid can be a tricky one. Keloid scarring is the result
of the body’s attempt to repair itself. After removing the keloid, the scar tissue
may grow back again, and sometimes it grows back larger than before.

Before any medical procedures, try considering at-home

treatments. Moisturizing oils, which are available online, can help to keep the
tissue soft. These might help reduce the size of the scar without making it
worse. Keloids tend to shrink and become flatter over time, even without
treatment.
Initially, your doctor will probably recommend less-invasive treatments, such
as silicone pads, pressure dressings, or injections, especially if the keloid scar
is a fairly new one. These treatments require frequent and careful application
to be effective, taking at least three months to work. Learn about other home
remedies for old scars.

Keloids surgery
In the case of very large keloids or an older keloid scar, surgical removal may
be recommended. The rate of return for keloid scarring after surgery can be
high. However, the benefits of removing a large keloid may outweigh the risk
of postsurgery scars.

Cryosurgery is perhaps the most effective type of surgery for keloids. Also
called cryotherapy, the process works by essentially “freezing” away the
keloid with liquid nitrogen.

Your doctor may also recommend corticosteroid injections after surgery to

reduce inflammation and lower the risk of the keloid returning.

Laser treatment for keloids

For certain types of scars (including some keloids), your doctor may
recommend laser treatment. This treatment resurfaces the keloid and
surrounding skin with high beams of light in an effort to create a smoother,
more toned appearance.

However, there’s a risk that laser treatment can make your keloids worse by
causing increased scarring and redness. While these side effects are
sometimes better than the original scar, you may still expect there to be some
form of scarring. Laser treatment is used for other types of skin scarring, all
with similar benefits and risks.

Preventing keloids
Treatments for keloid scarring can be difficult and not always effective. For
this reason, it’s important to try to prevent skin injuries that could lead to keloid
scarring. Using pressure pads or silicone gel pads after an injury may also
help prevent keloids.

Sun exposure or tanning may discolor the scar tissue, making it slightly darker
than your surrounding skin. This can make the keloid stand out more. Keep
the scar covered when you’re in the sun to prevent discoloration. Find out
more about sunscreen and other ways you can protect your skin.

Long-term outlook
Although keloids rarely cause adverse side effects, you may dislike their
appearance. You can have a keloid treated at any time, even years after it
appears. So if a scar is bothering you, have it checked out.