Biology Project

2023-2024

Name:- Sinjini Wasan

Class:- 12 S2
Roll no:- 30
Topic:-Chromosomal Disorders
 Certificate
This is to certify that Sinjini Wasan of class XII S2 has
completed her Biology project titled Chromosomal Disorders
under the guidance of Neelu Atri Ma’am (Subject teacher) for
the academic year 2023-2024

The certified student has been dedicated throughout her

research and completed her work before the given deadline
without missing any important details from the project.
It is also certified that this project is the individual work of
the student and can be submitted for evaluation.

Signature of Signature of
External Examiner Biology Teacher

--------------------------- ---------------------------

School Stamp

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Acknowledgement
I would like to convey my gratitude to everyone who has
assisted me in finishing my assignment successfully.

First and first, I want to thank CBSE from the bottom of my

heart for giving me such a wonderful opportunity to develop a
project and learn more about this fascinating topic.

Second, I want to express my gratitude to our

institution’s principal, Dr. Archana Nigam for providing us with
the inspiration and amazing support we needed to finish the
project.

Thirdly, I would like to thank my subject teacher,Neelu Atri

ma’am who guided me through every step of the project’s
preparation.

Finally, I’d want to thank everyone who has helped me along

the way, including my teachers , parents, and friends, whose
support has made this effort possible.
CHROMOSOMAL
DISORDERS
 Index
1. What are Chromosomes?
2. What are chromosomal disorders?
3. What are the symptoms of chromosomal
disorders?
4. Types of chromosomal disorders
5. Down syndrome (trisomy 21)
6. Affected individuals and symptoms of
Down syndrome
7. Turner syndrome
8. Affected individuals and symptoms of
Turner syndrome
9. Klinefelter syndrome
10. Affected individuals and symptoms of
Klinefelter syndrome
11. Edward Syndrome
12. Affected individuals and symptoms of
Edward syndrome
 Introduction
What are Chromosomes?
Chromosomes are threadlike structures made of protein and
a single molecule of DNA that serve to carry the genomic
information from cell to cell. In plants and animals (including
humans), chromosomes reside in the nucleus of cells. They
decide the sex, character, shape, etc of an organism and
determine which traits are inherited from parents.

Humans have 23 pairs of chromosomes, with one set

inherited from each parent. The 23rd pair, known as the sex
chromosomes, determines whether a person is male or
female.

Chromosomes play a crucial role in the process of cell division,

ensuring that each new cell receives an accurate copy of the
genetic material. Any abnormalities or mutations in
chromosomes can lead to genetic disorders and diseases.
Scientists continue to study the complex structure and
function of chromosomes to better understand the genetic
basis of life.
What are Chromosomal Disorders?
Chromosomal abnormalities or chromosomal disorders are the
type of genetic disorders caused due to the change in one or
many chromosomes or the abnormal arrangement of the
chromosomes.

There are different types of chromosomal abnormalities

that are as follows:
Aneuploidy – It is a condition in which there is a loss
or gain of chromosomes due to abnormal segregation
of genes during cell division. It can lead to monosomy,
trisomy, tetrasomy, etc.
Polyploidy – It is a condition in which the count of the
entire set of chromosomes increases due to the
failure of cytokinesis in cell division. It is mostly
observed in plants.
In humans, when there is an extra copy of a chromosome
in one of the pairs, it is called trisomy and when one of
the chromosomes from the pair is lacking, it is called
monosomy.
 What are the symptoms of
Chromosomal Disorders?
Developmental delays that include challenges
with speech or social skills
Limb or facial anomalies, which include
missing fingers or a cleft lip and palate.
Movement disorders due to muscle stiffness
or weakness.
Neurological issues such as seizures or
stroke.
Poor growth or short stature.
Vision or hearing loss.
Behavioral changes or disturbances.
Breathing problems.
Cognitive deficits, when the brain can’t
process information as it should.
Types of chromosomal disorders

1. Down Syndrome (Trisomy 21)

Down syndrome is a genetic condition where a
person is born with an. extra copy of chromosome
21. This means that they have a total of 47
chromosomes instead of 46. This can affect how
their brain and body develop.
The majority of Down syndrome cases happen
randomly (sporadically). People don’t usually inherit
Down syndrome in an autosomal dominant or
recessive pattern during conception when the egg
and sperm meet.
Studies suggest that the risk of giving birth to a
child with Down syndrome increases as the birthing
parent ages. Women or people assigned female at
birth (AFAB) who are 35 or older are more likely to
have a child diagnosed with Down syndrome or
another type of genetic condition.
How common is Down syndrome?
Down syndrome is the most common chromosome-
related condition in India. According to a 2021 report
published in ETHealth, nearly 30,000–35,000
children born in India are said to be affected by Down’s
Syndrome.

Symptoms of Down syndrome

Physical signs of Down syndrome are usually present
at birth and become more apparent as the baby grows.
They can include:
A flat nose bridge.
Slanted eyes that point upward.
A short neck.
Small ears, hands, and feet.
Weak muscle tone at birth.
The small pinky finger points inward towards the
thumb.
One crease in the palm of their hand (palmar
crease).
Shorter-than-average height.
Stubbornness and tantrums.
Difficulty paying attention.
Obsessive or compulsive behaviors.
 A BABY SUFFERING FROM DOWN
SYNDROME

People diagnosed with Down syndrome can have happy

and healthy lives with supportive care.
 2. Turner Syndrome :-

Turner syndrome (TS) is a congenital condition

present from birth that exclusively affects
individuals assigned to females at birth
(AFAB).
It occurs when one X chromosome is missing,
either partially or entirely, among the 23 pairs
of chromosomes (46 total) typically present in
humans. This includes 22 pairs of autosomes
and one pair of sex chromosomes.
For individuals assigned male at birth (AMAB),
the 23rd pair should consist of one X and one
Y chromosome. In contrast, those assigned
female at birth should have two X
chromosomes.
However, in Turner syndrome, one of a baby's
two X chromosomes is missing or incomplete.
Turner Syndrome (TS) has three different types,
1) Monosomy X:- occurs when each cell has only one
X chromosome instead of two. Approximately 45% of
those with TS experience this type, which results
from a random chromosomal abnormality during the
formation of reproductive cells in the biological
parent. If this atypical reproductive cell contributes
to the genetic makeup of a fetus during conception,
the baby will have just one X chromosome in each cell
at birth.
2) Mosaic Turner syndrome: This type accounts for
roughly 30% of TS cases. It occurs when some of a
child's cells have a pair of X chromosomes, while
others only have one. This atypicality happens
randomly during cell division early in pregnancy.

3)Inherited Turner syndrome: This type is rare and

occurs when babies inherit TS from their biological
parents. This usually happens due to a missing part
of the X chromosome.
How common is Turner syndrome?
The incidence of TS is around 1: 2,500 female live births
and is a fairly common chromosomal abnormality

Symptoms of Turner syndrome

The main feature of Turner syndrome is short stature.
Almost all people with TS:
Typically don’t go through puberty unless they get
hormone therapy in late childhood and early
adolescence.
May not experience breast development without
hormone therapy.
A short, wide neck or webbed neck (extra skin folds).
Broad chest.
Arms that point out slightly at your elbows (cubitus
valgus).
May not have menstrual periods (amenorrhea).
Have smaller-than-expected ovaries that may only
function for a few years or not at all (primary
ovarian insufficiency or POI).
Have low levels of sex hormones (like estrogen).
Have infertility.
 Sigher
Sigher

While there is no cure for Turner Syndrome, its symptoms

can be managed through medical treatment and lifestyle
changes. Hormone and growth hormone therapies can help
with breast development, menstruation, and increase height
and bone density. Maintaining a healthy diet, being physically
active, and regular check-ups with healthcare providers can
also help manage symptoms and monitor for complications.
Working closely with healthcare providers is essential to
develop an individualized treatment plan.
 3. Klinefelter Syndrome :-

Klinefelter syndrome is a genetic disorder

characterized by an additional X chromosome in
individuals assigned male at birth (AMAB).
Typically, AMAB individuals have 46
chromosomes, comprising one X chromosome
and one Y chromosome (46, XY).
Conversely, individuals with Klinefelter
syndrome have a total of 47 chromosomes.
Although Klinefelter syndrome is a genetic
condition, it's not always inherited from a
parent.
It often occurs randomly during the formation
of reproductive cells, leading to the
transmission of an extra X chromosome to the
developing fetus.
In rare cases, Klinefelter syndrome may be
inherited from a parent with a chromosomal
abnormality.
How common is Klinefelter syndrome?
This syndrome occurs in 1 out of 500 - 1,000 baby boys

Symptoms of Klinefelter syndrome

A smaller penis.
Undescended testicles.
Atypical body proportions (like being really tall or
having long legs and a short trunk)..
Radioulnar synostosis (when there’s an abnormal
connection between the two main bones in your
forearm).
Coordination issues.
Testicular failure (not making enough testosterone or
sperm).
Increased breast tissue (gynecomastia) in teen or
adult years
.Depression or Anxiety.
Social, emotional or behavioral issues.
Learning differences like reading and language
challenges.
Attention-deficit/hyperactivity disorder (ADHD).
Autism spectrum disorder.
Klinefelter syndrome is a genetic condition present from
birth, rendering it incurable. However, the symptoms can be
managed with appropriate treatment and guidance from a
healthcare professional.

The following are potential treatments for Klinefelter

syndrome:
Hormone replacement
Therapy
Management of other medical conditions
Rare surgical intervention in select cases.
 4. Edwards Syndrome:-

Trisomy 18, also known as Edwards syndrome,

is a genetic disorder that significantly impedes
a child's development and growth.
Newborns with trisomy 18 frequently exhibit
low birth weight and multiple birth defects,
accompanied by other distinct physical
characteristics.
It is noteworthy that trisomy 18 can affect
anyone, regardless of their demographic.
The condition arises from an additional copy of
chromosome 18, which occurs randomly and
unpredictably.
Unfortunately, due to the severity of the
condition, many infants born with trisomy 18
do not survive past their first few weeks or
months of life.
However, with advances in medical care and
technology, some individuals with trisomy 18
have lived into their twenties and thirties.
How common is Edwards syndrome?
This syndrome occurs in one in every 6000 live births.

Symptoms of Edwards syndrome

Very little fetal activity.
A single artery in your umbilical cord.
Decreased muscle tone (hypotonia).
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.
Congenital heart disease and kidney disease (present
at birth).
Breathing abnormalities (respiratory failure).
Gastrointestinal tract and abdominal wall issues and
birth defects.
Hernias.
Scoliosis.
 Sigher

In many cases, the severity of Edwards

syndrome (trisomy 18) is such that
infants who do survive childbirth receive
only comfort care. However, the
treatment for this genetic disorder is
individualized and dependent on the degree
to which the child is affected.
Unfortunately, there is currently no
known cure for Edwards syndrome
(trisomy 18).
 By
Sinjini Wasan