AISSCE 2024-25

NARAYANA SCHOOL

PROJECT NAME: CHROMOSOMAL DISORDER

NAME:- Antara Bhujel
REGISTRATION NO:-
ROLL NO:-
CLASS : XII – SCIENCE
SUB: BIOLOGY (044)
 CERTIFICATE
This is to certify that _________________ (student’s name), Roll
No.: ______________, has successfully completed the project titled
“______________________________” as per regulations laid down by
A.I.S.S.C.E. for the purpose of Practical Examination, and submitted to
the Department of Biology, Narayana School. It is an original work done
by the candidate under the supervision and able guidance of the
concerned supervisors.

SIGNATURE OF PRINCIPAL

Signature of Project Supervisors:

Signature of External Examiner:

 INDEX

1. Certificate
2. Acknowledgement
3. Introduction
4. Theory
5. Types of Chromosomal
Disorders-
 Klinefelter’s Syndrome
 Turner’s Syndrome
 Down’s Syndrome
 Edward’s Syndrome
6. Conclusion
7. Bibliography
 ACKNOWLEDGEMENT
I extend my sincere and heartfelt gratitude towards my
teachers who guided and encouraged me throughout, and
helped me complete the project successfully.

I would also like to thank our Principal Sir, for always

extending a helping hand to us and lastly, I would thank
Narayana School, Kalimpong for giving me the opportunity to
work on this project.

Submitted By : __________________ (Candidate’s Name)

 INTRODUCTION
Chromosomes are thread like structures present
within the nucleus that carry hereditary
information within the sort of genes which are
passed from parents to offspring. Every species
features a characteristics structure and number
of chromosomes present. Due to certain
irregularities at the time of cell division,
alternation in the structure or number of
chromosomes may happen even the slightest
alternation can lead to various abnormalities.
Changes in one chromosome parts, whole
chromosome or chromosomal sets are known as
chromosomal aberrations. A chromosomal
disorder occurs when there is a change In the
number or structure of the chromosomes. This
change in the amount or arrangement of the
genetic information in the cells may result in
problems in growth, development and
functioning of the body systems. The
chromosomal abnormalities may occur either
during the production of the egg or sperm or
early after the baby’s conception. A spontaneous
occurrence for unknown reasons. A
Chromosomal disorder is classically defined as
the phenotype resulting from visible alternation
in the number or structure of the chromosomes.
 CHROMOSOMES

23 PAIRS OF
CHROMOSOMES
 THEORY
There are 46 chromosomes in each human cell
present as 23 pairs, out of which 22 are
autosomes and 1 pair of sex chromosomes.
Chromosomal disorders are caused because of
the structural changes or numerical changes in
chromosomes.
1.Chromosomal Disorders Due To Numerical
Abnormalities:
Chromosomal disorders are caused due to the
change in number of chromosomes present.
This can be categorised into various types:
Aneuploidy : Loss or gain of a chromosome.
This happen due to non-disjunction of
chromatids when chromatids fail to separate
during cell division. This results in one gamete
having
• two copies of one chromosome and the other
having no chromosome.
Trisomy : The cell has one extra
chromosome (2n÷1).
Monosomy : The cell has one less
chromosome (2n-1).
Aneuploidy can be due to nondisjunction of
autosomes i.e chromosome 1-22 or sex
chromosomes.
• Euploidy: Loss or gain of the entire set of
chromosomes. Mostly occurs in plants.
• Haploid : Loss of one set of chromosomes i.e
‘n’ number of chromosomes.
• Polyploidy : Addition of one or more set of
chromosomes eg. ‘3n’ (triploid) etc.
2.Chromosomal Disorders Due To Structural
Abnormalities:
This happens when an outsized set of genes are
deleted, duplicated of rearranged causing
structural changes within the chromosome.
Structural abnormalities can be due to:
1. Deletion: A portion of the chromosome is lost
during cell division. A portion of chromosome
without the centromere lags during anaphase
movement and are cost from reorganising nuclei
or digested by nucleases.
2. Duplication: The presence of part of a
chromosome in excess is known as duplication .
3. Inversion: Inversion results from breakage and
reunion of a part of the chromosome rotating by
180° on its own axis. So there occurs a
rearrangement of genes.
4.Translocation: The shifting or transfer of a set
of genes or part of a chromosome to a non-
homologous one is known as translocation only
rearrangement occurs.
TYPES OF CHROMOSOMAL
DISORDERS
1. Chromosomal disorders related to sex
chromosomes:
Klinefelter’s Syndrome
Kllnefelter’s Syndrome
• Disorder occurring due to nondisjunction of the
X-chromosome.
• The sperm containing both X and Y combines
with an egg containing the X, results in a male
child.
• The egg may contribute the extra X -
chromosome.
Causes:
• This syndrome usually only occurs in 1 out of
1000 males. The addition of undesired X -
chromosomes is generally caused by an
accidental blunder caused In the development of
the egg or the sperm.
• Usually, this accident takes place in the
development of the sperm while other times,
this blunder is the cause of complexities in the
formation of the egg. Women who conceive post
35 are said to be at higher risk of giving birth to a
baby ailed with this KlineFelter syndrome.

• The presence of excess X chromosomes within

a of the genetic material within a sperm. Even
though male occurs when there is an uneven
distribution of the genetic material within a
sperm. Even though this re genetic disorder
unlike many other genetic disorders this doesn’t
pass down to other family members.
Symptoms :
Even while looking at a male who is suffering
from the Klinefelter Syndrome, you may not
observe any such symptoms which might
distinguished him, there are Some symptoms
that set them apart:
 In Babies:
• weak muscles and slow motor development.
• Delay in speaking.
• Problems at birth, such as testicles that
haven’t descended into the scrotum.
Boys and teenagers:
• Taller than average stature.
• Longer legs, shorter torso and broader hips.
• After puberty, less muscle and less facial
and body hair compared with other teens.
• Small penis, weak bones, Enlarged breast
tissue.
Men:
• Low sperm count or no sperm.
• Increased belly fat.
• Lesser muscular compared to other men.
Turner’s Syndrome
 Turner’s Syndrome
• Turner syndrome is associated with
underdeveloped ovaries, short stature webbed
neck.
• A condition that affects only females results
when one of the X chromosomes (sex
chromosomes) 13 missing or partially missing.
• It can cause a variety of medical and
developmental problem including failure of the
ovaries to develop and heart defects.
Causes:
• Turner Syndrome is a female -specific genetic
condition caused by a partial or total deletion of
one of the X chromosome. It causes females to
have a delayed sexual development.
• It is a hereditary condition. It’s caused by sex.
chromosomal aneuploidy. In all or part of the
cells, one X chromosome is absent.
 Symptoms:
• Drooping eyelids, a narrow palate thy Jour and
Large earlobes are all common face traits.
• Puberty is delayed and growth in inconsistent.
There are no regular growth spurts.
• Slightly smaller than average height at birth.
• Short fingers and toes.
• Swelling of the hands and feet, especially at
birth.
Down’s Syndrome
 2.Chromosomal disorder related to Autosomes.
Down syndrome
• also known as( Trisomy 21).
• Down syndrome varies in severity among
individuals, causing lifelong intellectual disability
and developmental delays.
• It’s the most common genetic chromosomal
disorder and cause of learning disabilities in
children.
Causes:
• Down Syndrome is caused when abnormal cell
division results in an extra full or partial copy - of
chromosome 21.
• This extra genetic material causes the
development -al changes and physical features of
Down syndrome.
• Due to this condition abnormal numbers of
chromosomes appear in the daughter cells
with one cell receiving one chromosome 21
while other three chromosomes 21.
Symptoms:
The physical and facial features are the easiest
signs of down syndrome.
• Short height and undersized growth.
• Slanty eyes and folding in the skin above the
eye.
• Flattened nose and furrowed tongue.
• Mental retardation.
• Heart deformities.
• Broad and short-hand.
• Poor toning of the muscle with excessive
flexibility.
• Short neck small head and abnormal teeth.
• Longer time in developing linguistic abilities.
• Mild or moderate cognitive impairment.
• Tiny white spots on the coloured part (Iris) of
the eye called Brushfield’s spots.
• Relatively short fingers and small hands and
feet.
• Most children with Down syndrome have mild
to moderate cognitive impairment.

Edward’s Syndrome
Edward’s Syndrome:
• Also known as Trisomy -18.
• Edward’s syndrome affects how long a baby
may Survive. Sadly, most babies with Edward’s
syndrome will die before or shortly after being
born.
• A small number (about 13 in 100) babies born
alive with Edward’s syndrome will live past their
1st birthday.
Causes:
• Children with Edwards syndrome have 3 copies
of pour* of all of chromosome 18,
instead of usual 2 copies.
• It can be caused by a mistake in the
formation of the egg or sperm, or the problem
can arise while the baby is
developing in the womb.
• Babbies with Edwards syndrome are either
born with severe miscarried Still born or physical
abnormalities.
• Symptoms: Low birth weight .

Symptoms:
• Low birth weight
• Small head and Jaw.
• an unusual-looking face and head.
• Unusual hands and beer with overlapping
fingers and webbed toes.
• Problems with feeding, breathing seeing and
hearing.
 CONCLUSION
This project on “Chromosomal Disorders” is a
very interesting project. This topic gives us a lot
of information about various types of
chromosomal disorders. We have learnt that
there are a lot of chromosomal disorders that
can affect the human population. Not all
chromosomal disorders directly results in death,
however there are no unknown cures for
chromosomal disorders. Many chromosomal
disorders affect stages of development such as
Down syndrome, Edwards syndrome etc, while
others results in purely physical symptoms such
as muscular dystrophy.
 BIBLIOGRAPHY
1. Websites
 www.wikipedia.com
 www.google.com
 www.healthline.com
 www.mayoclinic.org
2. Applications
 YouTube
 Google
3. Books
 NCERT Textbook Class 12 Biology.