Trisomy 21

Definition
• also known as Down syndrome, is a chromosomal aberration that leads to
the presence of 3 copies of chromosome 21.
• In trisomy 21, patients show delayed or miscarried mental and physical
development. The syndrome is named after the English physician J. Langdon
Down who first described the disease in 1866.
• 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.
 What causes Down syndrome in a child?
• 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.
 What causes Down syndrome in a child?
• 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.
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
What are the symptoms of Down syndrome in
a child?
• 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 Learning problems
• Intestinal problems
• Vision problems
• Hearing problems
• Thyroid problems
• Blood conditions, such as leukemia, and risk for infections
 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.
 How is Down syndrome diagnosed in a child?

• 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.
How is Down syndrome treated in a child?
• 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.
How is Down syndrome treated in a child?
• 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.
How is Down syndrome treated in a child?
• 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.