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12th Biology (Tagore Public School)

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ARMY PUBLIC SCHOOL

PUNE

ACADEMIC SESSION – 2023-2024

BIOLOGY INVESTIGATORY
PROJECT-2023-2024
TOPIC – CHROMOSOMAL DISORDER
NAME - NEELASH SINGH
CLASS & SECTION - XII-C
ROLL NO –

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COMPLETION CERTIFICATE

This to certify that Neelash singh of

class 12th-C – roll no ___________ has
satisfactorily completed the general
studies project on topic
CHROMOSOMAL DISORDER in the
academic session 2023-2024

Mrs Deepali karandikar Mrs Anita Sharma

(subject teacher) (Principal)

External Examiner

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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. Questions
8. Bibliography

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ACKNOWLEDGEMENT

I would like to express deep gratitude to Mrs

Deepali karandikar ma’am, biology teacher
who gave me this golden opportunity to do
this wonderful investigatory project …..

I Extend my special thanks to her for her

guidance and immense support which helped
me in completion of this project.

Through this project I learnt many new things

which previously I was unaware of ….
Secondly , I would like to thank my parents
and friends who helped me in finalising this
project within limited frame of time….

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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

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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.

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CHROMOSOMES

23 PAIRS OF CHROMOSOMES

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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

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TRISOMY (2N+1)

MONOSOMY (2N-1)

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 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.

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DELETION DUPLICATION INVERSION

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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

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TRANSLOCATION

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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.

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Types Of Chromosomal Disorders

1. Chromosomal disorders related to sex

chromosomes :
 Klinefelter’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.

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 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 :

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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.

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 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

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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.

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Down’s Syndrome

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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.

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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.

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Edward’s Syndrome

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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
miscarried Stillborn or born with severe
physical abnormalities.
 Symptoms: Low birth weight

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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.

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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.

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QUESTIONS
Q1. In which year, Down’S syndrome was described ?

Ans. 1866.

Q2. What is the genotype of the person suffering from Klinefelter’S

syndrome?

Ans. 44+XXY.

Q3. Which chromosomal disorder is the commonest in the new borns ?

Ans. Down’S syndrome.

Q4. What does aneuploidy represents?

Ans. Increase or decrease in number of chromosomes.

Q5. Gynecomastia is caused due to which syndrome?

Ans. Klinefelter syndrome.

Q6. The main cause of Turner syndrome is ?

Ans. Absence of one of the X chromosome i.e 45 with X0.

Q7. Which syndrome is also known as trisomy 18 ?

Ans. Edward’S syndrome.

Q8. What is chromosome 18 responsible for ?

Ans. Severe intellectual disability and multiple birth defects.

Q9. What is aneuploidy?

Ans. Gain or loss of a chromosome(S) (2n-1).

Q10. What is polyploidy?

Ans. Increase in whole set of chromosome (2n+1).

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BIBLIOGRAPHY

1. Websites
 www.wikipedia.org
 www.google.com
 www.healthline.com
 www.mayoclinic.org

2. Applications
Youtube
Google

3. Books
NCERT Textbook Class 12 Biology.

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THANK YOU

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