Cell Division Malfunction in Meiosis

(Edward’s Syndrome)

Members;
Beltran, Kathleen Mae
Benico, Clowee
Bernal, Gabriel
Bernal, Jeremiah

Subject;
General Biology

Section;
12 STEM 1 St. POPE PIUS X
Abstract;

Meiosis, a specialized form of cell division, is crucial for sexual reproduction and genetic
diversity. It involves two consecutive divisions that reduce the chromosome number by half,
resulting in four genetically distinct gametes. However, meiotic malfunctions can lead to genetic
disorders like Edwards syndrome (trisomy 18).

Edwards syndrome is a severe genetic condition caused by the presence of a third copy of
chromosome 18. It affects the development and growth of the child, leading to low birth weight,
multiple birth defects, and characteristic physical features. Discovered in 1960 by John Hilton
Edwards and colleagues, this condition is relatively rare, occurring in approximately 1 out of
every 5,000 to 6,000 live births.

The symptoms of Edwards syndrome are present during pregnancy and after birth. Prenatal signs
include decreased fatal activity, abnormalities in the umbilical cord and placenta, and birth
defects. After birth, affected children exhibit decreased muscle tone, low-set ears, heart and lung
abnormalities, intellectual disabilities, and characteristic physical features such as overlapping
fingers and clubfeet.

The underlying cause of Edwards syndrome is the presence of an extra copy of chromosome 18,
which is randomly and unpredictably inherited. Maternal age is a known risk factor, but the
condition is not the result of anything the parents did before or during pregnancy. A boy with full
trisomy 18 in early infancy and at one year. Note the characteristic hand feature with the over-
riding fingers, the tracheostomy, and his engaging smile. He is now over 2 years Of age and is
quite stable medically, gaining weight, sitting up, and participating in the many activities of his
family.

Understanding Edwards syndrome is crucial for providing early detection and supportive care for
affected individuals and their families. Despite the challenges posed by this condition, ongoing
research and advancements in medical care continue to improve the quality of life for those
affected. Raising awareness and fostering compassion within communities can contribute to a
more inclusive society for all.
Introduction:

In cell division, meiosis is a specialized type of cell division that reduces the
chromosome number by half, resulting in four genetically distinct gametes (sperm or eggs in
animals; pollen or ovules in plants). It is essential for sexual reproduction and ensures genetic
diversity. Meiosis involves two consecutive divisions:
Meiosis I: Homologous chromosomes are separated into different cells.
Meiosis II : The sister chromatids of each chromosome are separated into different cells. The
result is four haploid cells, each with half the number of chromosomes of the original cell.
This process is crucial for maintaining the correct chromosome number across generations when
gametes fuse during fertilization. If the meiosis has a malfunction it can result in a disorder or
disease like Edwards Syndrome. Trisomy 18, also known as Edwards syndrome, is a genetic
disorder caused by the presence of a third copy of all or part of chromosome 18.Many parts of
the body are affected. Babies are often born small and have heart defects. Other features include
a small head, small jaw, clenched fists with overlapping fingers, and severe intellectual disability.

Body;

Edwards syndrome, also known as trisomy 18, is a very severe genetic condition that
affects how your child’s body develops and grows. Children diagnosed with trisomy 18 have a
low birth weight, multiple birth defects and defining physical characteristics.
John Hilton Edwards, et al., discovered Edwards syndrome (trisomy 18) in 1960 after
researching a new-born 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).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.
The condition occurs when a person has an extra copy of chromosome 18, which is random and
unpredictable. The likelihood that a parent will have a child with Edwards syndrome (trisomy
18) increases with maternal age at the time of pregnancy. If a parent had a child with Edwards
syndrome (trisomy 18) and becomes pregnant again, it’s unlikely they’ll have another child
diagnosed with the same condition (no more than 1%).
Edwards syndrome (trisomy 18) occurs in an estimated 1 out of every 5,000 to 6,000 live births.
The condition is more common during pregnancy (1 out of every 2,500 pregnancies), but most
(at least 95%) fetuses don’t survive full term due to complications from the diagnosis, so
pregnancies can end in miscarriage or babies are stillborn.

Symptoms and Causes

What are the symptoms of Edwards syndrome (trisomy 18)?

Symptoms of Edwards syndrome (trisomy 18) typically include poor growth before and after
birth, multiple birth defects and severe developmental delays or learning problems. Symptoms
are present during pregnancy and after your child is born.

Symptoms of Edwards syndrome (trisomy 18) during pregnancy

Your healthcare provider will look for signs of Edwards syndrome (trisomy 18) during a prenatal
ultrasound, including:

Very little fatal activity.

A single artery in your umbilical cord.
A small placenta.
Birth defects.
Your fetus is surrounded by too much amniotic fluid (polyhydramnios)
An Edwards syndrome diagnosis can result in a live birth, but trisomy 18 most often causes a
miscarriage during the first three months of pregnancy or the baby is stillborn.

Characteristics of Edwards syndrome (trisomy 18) after birth

After your baby is born, your child likely has physical characteristics of Edwards syndrome
(trisomy 18), including:

Decreased muscle tone (hypotonic).

Low-set ears.
Internal organs forming or functioning differently (heart and lungs).
Issues with cognitive development (intellectual disabilities), which are typically severe.
Overlapping fingers and/or clubfeet.
Small physical size (head, mouth and jaw).
Weak cry and minimal response to sound.
Severe symptoms of Edwards syndrome (trisomy 18)
Because children diagnosed with Edwards syndrome (trisomy 18) have underdeveloped bodies,
the side effects of the condition have serious and often life-threatening consequences, including:
Congenital heart disease and kidney disease (present at birth).
Breathing abnormalities (respiratory failure).
Gastrointestinal tract and abdominal wall issues and birth defects.
Hernias.
Scoliosis.
Issues relating to the heart affect nearly 90% of children diagnosed with Edwards syndrome
(trisomy 18) and are the leading cause of premature death among infants who have the condition,
next to respiratory failure
Evidence;

Trisomy 18 or called Edward’s syndrome can be identified by an

unusually small head and the back of the head has a prominent
appearance. Edward’s syndrome usually affects new born babies,
the ears are malformed and low set. Mouth and jaw are small may
also have cleft lip or cleft plate. The hands are clenched into
fists, and the index finger overlaps the other finger and have clubfeet
(or rocker bottom feet) and toes may be webbed or fused.

A young, immigrant mother brings her 6-month-old child to the

paediatrician for the first time. He is noted to have low-set ears,
clenched fists, and a small, retracted lower jaw, as well as
a cardiac murmur on auscultation.

A boy with full trisomy 18 in early infancy and at one year.

Note the characteristic hand feature with the over-riding fingers,
the tracheostomy, and his engaging smile. He is now over 2 years
of age and is quite stable medically, gaining weight, sitting up, and
participating in the many activities of his family.
Conclusion;

Edwards syndrome, sometimes known as trisomy 18, is caused by an extra copy of

chromosome 18, which causes a variety of physical deformities and major developmental issues.
Parents and healthcare professionals need to understand Edwards syndrome because it
emphasises the value of early discovery and supportive care. Even with the difficulties this
illness presents, new discoveries in medicine and ongoing research continue to enhance the lives
of those who are afflicted and their loved ones. Raising awareness and educating people about
trisomy 18 can help communities feel more compassionate and supportive of one another, which
will ultimately make society more inclusive for all.
Citations;

https://en.m.wikipedia.org/wiki/Trisomy_18
https://my.clevelandclinic.org/health/diseases/22172-edwards-syndrome
https://step2.medbullets.com/pediatrics/120564/edwards-syndrome
https://www.google.com/url?sa=t&source=web&rct=j&opi=89978449&url=https://
my.clevelandclinic.org/health/diseases/22172-edwards-
syndrome&ved=2ahUKEwjCycGg2KaIAxVl3zQHHWQiCxUQFnoECCoQAQ&usg=AOvVaw
1EwxCMDAUNdBU3H5WXxx_0
https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-81/figures/1