CHROMOSOMAL

DISORDERS

- Vedikka.K
XII
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 INDEX
• What is chromosomal abnormality?

• What causes chromosomal aberration?

• Types of chromosomal aberrations

• Types and its most common chromosomal

disorders

• How are chromosomal aberrations

diagnosed?

• How can you reduce risk of chromosomal

aberrations?
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WHAT IS CHROMOSOMAL
ABNORMALITY?
The occurrence of one or more extra or missing chromosomes
leading to an unbalanced chromosome complement, or any
chromosome number that is not an exact multiple of the haploid
number (which is 23) is termed as a chromosomal abnormality.

In general, each parent contributes one set of chromosomes to

their offspring, which collectively make up the 23 pairs of
chromosomes. A change to any of the chromosomes, in number
or structure, creates a chromosomal aberration and may cause
medical disorders.

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WHAT CAUSES CHROMOSOMAL
ABERRATIONS?
Chromosomal aberrations are most often caused by errors
during cell division. Cell division in humans occurs via mitosis or,
only in sex chromosomes, meiosis.
In mitosis, cells duplicate their chromosomes and produce
daughter cells with an identical number of chromosomes as the
original cell. In other words, a cell with 46 chromosomes will
produce two cells, each with 46 identical chromosomes.
Meanwhile, cell division by meiosis involves two rounds of cell
division that allow for the recombination of genetic material,
resulting in four sex cells with only half of the number of
chromosomes. For example, a cell with 46 chromosomes
undergoing meiosis will produce four unique daughter cells,
each with 23 chromosomes.

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Aneuploidy may result when an error occurs during meiosis.
Most commonly this error is known as nondisjunction, when a
set of chromosomes do not properly separate, which leaves one
or two sex cells with an extra chromosome or with one less
chromosome.

If a sex cell affected by nondisjunction undergoes fertilization,

the resulting offspring will have inherited one more or one less
chromosome and may develop a chromosomal disorder.

Less commonly, structural chromosomal aberrations can result in

an aneuploidy. Structural chromosomal aberrations occur when
part or all of a chromosome is missing, turned upside down,
duplicated, or attached to another chromosome.

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When this occurs after meiosis in a sex chromosome, two
copies or no copies of a chromosome may be present and
subsequently passed down to offspring, who will end up
with a consequent monosomy or trisomy.

Sometimes, chromosomal disorders are caused

by mosaicism, when there are two or more different cell
lines in one person. Mosaicism can occur after
nondisjunction happens in a mitotic cell division during
early embryonic development. This results in one line of
cells with a chromosomal aberration while other lines may
stay unchanged.

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TYPES OF CHROMOSOMAL
ABERRATIONS
Chromosomal aberrations can be categorized as numerical and
structural aberrations.
NUMERICAL ANEUPLOIDY
• Monosomy
• Trisomy

STRUCTURAL ANEUPLOIDY
• Deletion
• Inversion
• Duplication
• Translocation

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TYPES AND ITS COMMON DISORDERS
NUMERICAL ANEUPLOIDY
Numerical aberrations, changes to the number of chromosomes present, are
referred to as aneuploidies.
These types of birth defects occur when there is a different number of
chromosomes in the cells of the body from what is usually found. So, instead of the
usual 46 chromosomes in each cell of the body, there may be 45 or 47
chromosomes. Having too many or too few chromosomes may cause health
problems or birth defects.
MONOSOMY:
Monosomy refers to the condition in
which only one chromosome from a
pair is present in cells rather than the
two copies usually found in diploid
cells. Therefore, there is a total of 45
chromosomes in each cell of the body,
rather than 46.
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DISORDERS:

TURNER’S SYNROME/ MONOSOMY X:

• If the baby is born with only one X sex

chromosome, rather than the usual pair (either
two X's or one X and one Y sex
chromosome), the baby would be said to have
"monosomy X.".
• Only 1 sex chromosome - X
• The only viable monosomy in humans
• XO individuals are genetically female, however
they do not mature sexually at puberty and are
sterile
• Short stature and had normal intelligence
• 98% people die before delivery, 1:5000 live
births
• Webbed neck, swollen hands and feet.
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CRI DU CHAT SYNDROME:

Cri du chat syndrome is a rare genetic disorder due to a

partial chromosome deletion on chromosome 5.
The condition affects an estimated 1 in 50,000 live births
across all ethnicities and is more common in females by a
4:3 ratio
cry of affected infants is similar to that of a meowing kitten,
due to problems with the larynx and nervous system.
•feeding problems because of difficulty in swallowing and
sucking;
•mutism
•severe cognitive, speech and motor disabilities;
•behavioral problems such as hyperactivity, aggression,
outbursts and repetitive movements;
•unusual facial features, which may change over time

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 TRISOMY:
• Trisomy is a genetic condition that results in an extra copy
of a chromosome. A person with trisomy will have 47
chromosomes instead of 46.
• Your risk of having a child with a trisomy condition
increases after age 35.
• During meiosis, there is a chance that your cells do not
divide as they should, causing an additional copy of a cell
to join a pair.
• Normally, each pair would contain two chromosomes, but
a third chromosome forms and attaches to the pair,
creating a trisomy, which literally translates to “three
bodies”.

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DISORDERS:

TISOMY 21/DOWN’S SYNDROME:

• Down syndrome is a genetic condition
where a person is born with an extra copy of
chromosome 21. This means their cells
contain 47 total chromosomes instead of 46.
• Down syndrome is the most common
chromosome-related condition in the United
States.
• An estimated 6,000 babies are born with the
condition in the U.S. every year, which
equals about 1 in every 700 babies.
•A flat nose bridge.
•Slanted eyes that point upward.
•A short neck.
•Small ears, hands and feet.
•Weak muscle tone at birth.
•Small pinky finger that points inward towards
the thumb. 12
TRISOMY 18/ EDWARD SYNDROME:

• It is caused by an extra copy of chromosome 18

and babies born with the condition usually do
not survive for much longer than a week.
• Children with Edwards syndrome have 3 copies
of part or all of chromosome 18, instead of the
usual 2 copies. It is also called Trisomy 18.
• It is very rare for a baby with Edwards syndrome
to survive their first year of life, and most die
within a week of birth.
• low birth weight
• an unusual-looking face and head
• unusual hands and feet with overlapping fingers
and webbed toes

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 TRISOMY 13/ PATAU SYNDROME:

• Most cases of trisomy 13 result from having three copies

of chromosome 13 in each cell in the body instead of
the usual two copies.
• Trisomy 13 can also occur when chromosome 13
becomes attached (translocated) to another
chromosome during the formation of reproductive cells
(eggs and sperm) .
• Affected people have two normal copies of
chromosome 13, plus an extra copy of chromosome 13
attached to another chromosome. In rare cases, only
part of chromosome 13 is present in three copies.
• Heart defects, brain or spinal cord abnormalities.
• Very small or poorly developed eyes (microphthalmia),
extra fingers or toes,
• An opening in the lip(a cleft lip) with or without an
opening in the roof of the mouth (a cleft palate).
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STRUCTURAL ANEUPLOIDY:

The four main types of structural chromosomal aberrations are

deletion, duplication, inversion, and translocation.

DELETION:
• Deletions occur when a portion of the chromosome is deleted,
or taken out, which can make that chromosome less functional.
• For example, when part of a short arm in chromosome 5 is
deleted, this causes Cri-du-chat syndrome.
• Common symptoms of which are reduced head size and high-
pitched crying in infants.

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DUPLICATION:
• In duplication, part of the chromosome is duplicated, resulting in
extra genetic material.
• This occurs in Charcot-Marie-Toot disease type I.
• Which duplicates part of chromosome 17, causing muscle
weakness.

INVERSION:
• Inversion of a chromosome happens when the genetic material is
inverted or flipped in the opposite direction.
• Inversions do not often result in disease and most commonly affect
chromosome 2.

TRANSLOCATION:
• Translocations occur when a piece of one chromosome has broken
off from its original location and attached to another chromosome.
• The most common example is a Robertsonian translocation.
• Which results when two acrocentric chromosomes lose the short
arms of the chromosomes, and the two long arms consequently
conjoin. 16
20XX Pitch deck title 17
HOW ARE CHROMOSOMAL ABERRATIONS
DIAGNOSED?
Healthcare provider will offer screening tests during pregnancy to test a sample of the
birthing parent’s blood in addition to an ultrasound.
During the ultrasound, the healthcare provider will look for signs of trisomy, like excess
amniotic fluid, nuchal lucency (fluid under the skin behind the neck) and limb lengths.
These can be signs of a genetic abnormality.

Following a screening, additional tests

help confirm the diagnosis including:

•Chorionic villus sampling

(CVS): Between 10 and 13 weeks of
pregnancy, the healthcare provider will
take a small sample of cells from the
placenta to test for genetic conditions
and the sex of the baby.
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•Amniocentesis: Between 15 and 20
weeks of pregnancy, your healthcare
provider will take a small sample of
amniotic fluid to test for potential health
abnormalities in your baby.

•Percutaneous umbilical blood

sampling (PUBS): Your healthcare
provider will take a small sample of blood
from your baby’s umbilical cord to test for
health conditions in your baby.

•Noninvasive prenatal testing: After 10

weeks of pregnancy, your healthcare
provider will examine a sample of your
blood to assess whether your child has
any genetic abnormalities.
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 HOW IS CHROMOSOMAL
ABNORMALITIES
TREATED?
Chromosomal abnormalities is a lifelong
condition and requires long-term treatment to
alleviate any symptoms associated with the
condition. Treatment for children born with
trisomy includes:

•Surgery to repair any physical abnormalities.

•Educational support.
•Speech, behavioral and physical therapy.
•Medicines to help symptoms of related
medical conditions that develop over time.

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HOW CAN YOU REDUCE RISK OF
CHROMOSOMAL ABERRATIONS?
You can’t prevent genetic conditions like trisomy from
occurring because the chromosome error occurs
randomly during cell division. You can reduce your risk
of having a child with a genetic condition by:
•Understanding your risk of becoming pregnant if you
are over 35 years old.
•Getting genetic screenings done before becoming
pregnant.
•Avoiding using tobacco products and drinking alcohol.
•Taking care of your health by eating a well-balanced
diet and exercising regularly.
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 SUMMARY
Estimates are made of the rates of all clinically significant
chromosomal abnormalities in live births by 1-year maternal
age intervals ranging from 15 to 49. Down syndrome results
from the most prevalent clinically significant cytogenetic
abnormality, yet the rates of disorders associated with other
cytogenetic abnormalities also increase with maternal age
and significantly contribute to the overall rate at the older
ages. The estimated rate of all chromosomal abnormality
during birth rises from about 2 per 1000 (1 per 500) at the
youngest maternal ages to about 2.6 per 1000 (1 per 270) at
age 30. Even if its medically not possible to reduce the risk of
chromosomal disorders in newly born, its highly required to
create awareness regarding the same such that out of the
many who dies of the disorder, few can be made to survive
despite their bad conditions.
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BIBLIOGRAPHY
https://youtu.be/Mx3tmWEdylY

https://www.osmosis.org/answers/chromosomal-
aberrations#:~:text=The%20four%20main%20types%20of,
duplication%2C%20inversion%2C%20and%20translocation

https://www.genome.gov/genetics-glossary/Monosomy

https://story.motherhood.com.my/blog/cri-du-chat-
syndrome-what-parents-should-know/

https://my.clevelandclinic.org/health/diseases/22912-
trisomy

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THANK
YOU 

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