CHROMOSOME 18

Edward’s Syndrome (Trisomy 18)

- A genetic condition that causes physical growth delays during fetal development.
- Children diagnosed with trisomy 18 have a low birth weight, multiple birth defects, and defining
physical characteristics.

*Ang trisomy 18 or edward’s syndrome ay isang malalang condition, which is genetic, dahil nakakaapekto
ito sa paglaki at pagdevelop ng isang bata.

When was Trisomy 18 discovered?

- John Hilton Edwards, et al., discovered Edwards syndrome (trisomy 18) in 1960 after researching a
newborn with multiple congenital complications and issues with cognitive development. They
reported their discovery and identified the condition as the result of a third cell attaching to a pair of
chromosomes at chromosome 18 (trisomy 18).

What causes Edward’s Syndrome?

- This syndrome is having three copies of chromosome 18 instead of typical two chromosomes.

*All humans have 46 chromosomes that divide into 23 pairs. Chromosomes carry your DNA in cells, which
tells your body how to form and function as its instruction manual. You receive one set of chromosomes
from each of your parents.

When cells form, they start in reproductive organs as one fertilized cell (sperm in males and eggs in
females). Cells divide (meiosis) to create pairs by copying themselves. The cell’s copy contains half the
amount of DNA as the original cell, 23 chromosomes from 46, and each chromosome pair has a number.

During egg and sperm formation when chromosome pairs are supposed to divide, there’s a chance that a
chromosome pair will not divide (as if they are too sticky) and both copies will be included in the egg or
sperm. When fertilization happens, those two copies join one from the other parent so the result is three
copies in total. The incorrect number of chromosomes is unpredictable and random and isn’t the result of
something the parents did before or during pregnancy.

When a third copy of a cell joins a pair, a trisomy occurs. Trisomy means “three bodies.” If someone
receives an Edwards syndrome diagnosis, they have a third copy of chromosome 18 in their cells.

Who does Edward’s Syndrome occur?

- It occurs when a person has an extra copy of chromosome 18. The likelihood that a parent will have
a child with Edwards syndrome increases with maternal age at the time of pregnancy. If a parent had
a child with Edwards syndrome and becomes pregnant again, it’s unlikely they’ll have another child
diagnosed with the same condition (no more than 1%).

How does Edward’s Syndrome diagnose?

- Diagnosis of Edwards syndrome (trisomy 18) begins during pregnancy, and confirmation of the
diagnosis occurs either before or after your baby is born. Your healthcare provider will look for signs
of Edwards syndrome (trisomy 18) during a routine ultrasound screening, including fetal activity, the
amniotic fluid surrounding your fetus and the size of your placenta. If signs of a genetic condition are
present, your healthcare provider may offer additional testing for confirmation.

How can I reduce my risk of having a child with Edwards syndrome (trisomy 18)?
- Edwards syndrome (trisomy 18) is the result of a genetic mutation and there’s no way to prevent the
condition. However, if you qualify for a combination of genetic testing and in vitro fertilization
 (preimplantation genetic testing), you can significantly reduce the chance of having a child with
Edwards syndrome (trisomy 18). If you plan on becoming pregnant and want to understand your risk
of having a child with a genetic condition, talk with your healthcare provider about genetic testing.

CHROMOSOME 19

Myotonic Dystrophy (DM)

- It is a form of muscular dystrophy that affects the muscles and many other organs in the body. It
means progressive muscle degeneration, with weakness and shrinkage of muscle tissues.

Cause:
- The Myotonic Dystrophy is caused by a mutation on chromosome 19. An affected individual will
have one normal copy of chromosome 19 and one that carries the mutation

CHROMOSOME 20

Alagille Syndrome
- It is an inherited liver disorder that also affects the heart, eyes, bones, kidneys, vasculature, and other
organs.
- Possible causes of poor growth in Alagille syndrome include insufficient calorie intake, fat
malabsorption (decreased ability to absorb fat) due to liver or pancreatic disease, congenital (present
at birth) defects (such as heart disease) and the defect in the Jagged1 gene.

Cause:
- The cause of this syndrome is the deletion of the entire gene, the Jagged1, from one copy of
chromosome 20.
- About one-third of children with Alagille syndrome inherit the change in Jagged1 from a parent. In
the remaining two-thirds of cases, the mutation in Jagged1 is a new one in that child. Alagille
syndrome is an autosomal dominant disorder, which means someone who carries the Jagged1 gene
mutation has a 50 percent chance of passing on that mutation to their child. The effect of having a
mutation in Jagged1 can vary widely. Some individuals who inherit a mutation have severe Alagille
syndrome, involving heart and liver disease, while others experience only minor manifestations, such
as posterior embryotoxon or characteristic facial features.

Diagnosis:
1. Cholestasis - stoppage of bile flow out of the liver
2. Characteristic Facial Features - giving the face a triangular appearance, deepset eyes, and straight
nose
3. Vertebral Abnormalities - butterfly-shaped vertebrae, short stature
4. Eye Abnormalities - posterior embryotoxon
5. Heart defects - Peripheral pulmonary stenosis (narrowing of the pulmonary artery)

CHROMOSOME 21

Down Syndrome
- It is having extra copy of chromosome 21 that changes how the baby’s body and brain develop.
Which can cause both mental and physical problem for the baby.

Types of Down Syndrome:

1. Trisomy 21 - With this type of Down syndrome, each cell in the body has 3 separate copies of
chromosome 21 instead of the usual 2 copies.
 2. Translocation Down Syndrome - This occurs when an extra part or a whole extra chromosome 21
is present, but it is attached or “trans-located” to a different chromosome rather than being a separate
chromosome 21.
3. Mosaic Down Syndrome - Mosaic means mixture or combination. For children with mosaic Down
syndrome, some of their cells have 3 copies of chromosome 21, but other cells have the typical two
copies of chromosome 21. Children with mosaic Down syndrome may have the same features as
other children with Down syndrome. However, they may have fewer features of the condition due to
the presence of some (or many) cells with a typical number of chromosomes.

Causes:
- The extra chromosome 21 leads to the physical features and developmental challenges that can occur
among people with Down syndrome. Researchers know that Down syndrome is caused by an extra
chromosome, but no one knows for sure why Down syndrome occurs or how many different factors
play a role.
- One factor that increases the risk for having a baby with Down syndrome is the mother’s age.
Women who are 35 years or older when they become pregnant are more likely to have a pregnancy
affected by Down syndrome than women who become pregnant at a younger age. However, the
majority of babies with Down syndrome are born to mothers less than 35 years old, because there are
many more births among younger women.

Treatment:
- Down syndrome is a lifelong condition. Services early in life will often help babies and children with
Down syndrome to improve their physical and intellectual abilities. Most of these services focus on
helping children with Down syndrome develop to their full potential. These services include speech,
occupational, and physical therapy, and they are typically offered through early intervention
programs in each state. Children with Down syndrome may also need extra help or attention in
school, although many children are included in regular classes.

CHROMOSOME 22

DiGeorge Syndrome
- a disorder caused when a small part of chromosome 22 is missing. This deletion results in the poor
development of several body systems that include heart defects, poor immune system function, a
cleft palate, complications related to low levels of calcium in the blood, and delayed development
with behavioral and emotional problems.

Cause:
- Each person has two copies of chromosome 22, one inherited from each parent. If a person has
DiGeorge syndrome (22q11.2 deletion syndrome), one copy of chromosome 22 is missing a segment
that includes an estimated 30 to 40 genes.
- The deletion of genes from chromosome 22 usually occurs as a random event in the father's sperm or
in the mother's egg, or it may occur early during fetal development. Rarely, the deletion is an
inherited condition passed to a child from a parent who also has deletions in chromosome 22 but may
or may not have symptoms.

Problems with Digeorge Syndrome:

1. Heart defects - often causes heart defects that could result in an insufficient supply of oxygen-rich
blood. For example, defects may include a hole between the lower chambers of the heart (ventricular
septal defect); only one large vessel, rather than two vessels, leading out of the heart (truncus
arteriosus); or a combination of four abnormal heart structures (tetralogy of Fallot).
2. Hypoparathyroidism - The four parathyroid glands in the neck regulate the levels of calcium and
phosphorus in the body. 22q11.2 deletion syndrome can cause smaller than normal parathyroid
glands that secrete too little parathyroid hormone (PTH), leading to hypoparathyroidism. This
condition results in low levels of calcium and high levels of phosphorus in the blood.
 3. Thymus gland dysfunction - The thymus gland, located beneath the breastbone, is where T cells —
a type of white blood cell — mature. Mature T cells are needed to help fight infections. In children
with 22q11.2 deletion syndrome, the thymus gland may be small or missing, resulting in poor
immune function and frequent, severe infections.
4. Cleft palate - A common condition of 22q11.2 deletion syndrome is a cleft palate — an opening
(cleft) in the roof of the mouth (palate) — with or without a cleft lip. Other, less visible abnormalities
of the palate that may also be present can make it difficult to swallow or produce certain sounds in
speech.
5. Distinct facial features - A number of particular facial features may be present in some people with
22q11.2 deletion syndrome. These may include small, low-set ears, short width of eye openings
(palpebral fissures), hooded eyes, a relatively long face, an enlarged nose tip (bulbous), or a short or
flattened groove in the upper lip.
6. Autoimmune disorders - People who had poor immune function as children, due to a small or
missing thymus, may also have an increased risk of autoimmune disorders, such as rheumatoid
arthritis or Graves' disease.
7. Learning, behavioral, and mental health problems - ause problems with development and
function of the brain, resulting in learning, social, developmental or behavioral problems. Delays in
toddler speech development and learning difficulties are common. Some children develop attention-
deficit/hyperactivity disorder (ADHD) or autism spectrum disorder. Later in life, the risk of
depression, anxiety disorders and other mental health disorders increases.

CHROMOSOME 23

Turner Syndrome
- It is a genetic condition found in females only. Girls with Turner Syndrome usually shorter than their
peers.
- Since they have an early loss of ovarian function, they are also infertile, which mean they can’t
become pregnant.

Cause:
- Girls typically have two X chromosomes (or XX), but girls with Turner syndrome have only one X
chromosome or are missing part of one X chromosome. Because she is missing part or all of a
chromosome, certain genes are missing.
- The disorder is a random error in cell division that happens when a parent's reproductive cells are
being formed.

Signs and Symptoms:

 "webbing" of the skin of the neck (extra folds of skin extending from the tops of the shoulders to the
sides of the neck)
 a low hairline at the back of the head
 low-set ears
 unusual eye features, including drooping of the eyelids
 altered bone development, especially the bones of the hands and elbows
 a lack of breast development at the expected age (usually by age 13)
 irregular periods or no periods (amenorrhea)
 a larger than usual number of moles on the skin