CERTIFICATE

This is to certify that the biology project titled “Chromosomal disorder” has been successfully completed

By Shri. Animesh Ghosh Roll no. , Registration no. of class XII in the partial
fullfilment of curriculum

of Central Board of Secondary Education (CBSE) in the year of 2024-2025.

The project is genuine and doesn’t indulge in plagiarism of any kind

Signature of the Guide Signature of the Principal

Signature of the External

 ACKNOWLEDGEMENT

I express my gratitude my guide Ms. Jyotishna changmai for her extended guidance and support for
completion of the project work.

I would give my special thanks to principal of Hindustani Kendriya vidyalaya Tezpur for his great support
by motivating and encouraging in every endeavour of ours.

I would thank my friend for their contribution and co-opeartion.

A special Thanks to CBSE for the scheme of project introduction to make students discover their in built
abilities

Last but now I would like to thank my parents for their love and support.

Roll No.

Registration No.
 CONTENTS

SL NO. TOPIC PAGE NO.

1. ABSTRACT 4
2. INTRODUCTION 5
3. TYPES OF CHROMOSOMAL DISORDER 6-10
4. SYMPTOMS OF CHROMOSOMAL 11
ABNORMALITIES
5. CAUSES OF CHROMOSOMAL 12
ABNORMALITIES IN PREGNANCY
6. RISK FACTOR FOR CHROMOSOMAL 13
DISORDER IN PREGNANCY
7. TYPES OF DISORDERS CAN BE SEEN DURING 14
THE TIME OF PREGNANCY
8. PREVENTION FOR CHROMOSOMAL 15
ABNORMALITIEES DURING PREGNANCY
9. DISORDER OF CHROMOSOMAL 16
ABNORMALITIES
10. TESTING AND TREATMENT FOR 17
CHROMOSOMAL DISORDERS

11. CAUSES OF CHROMOSOMAL DISORDERS 18

12. CONCLUSION 19
13 BIBLOGRAPHY 20
 ABSTRACT

Chromosome disorders are an important category of diseases, occurring in approximately 1 out of every
150 live births. They are a common cause of intellectual disability and pregnancy loss. Chromosomal
disorders can be divided into two groups: numerical and structural abnormalities.

Numerical abnormalities result from the gain or loss of one or more chromosomes, referred to as
aneuploidy (e.g., trisomy, monosomy, or tetrasomy), or the addition of one or more complete haploid
genomes, referred to as polyploidy (e.g., triploidy or tetraploidy).

Structural chromosome abnormalities can be unbalanced, where the rearrangement causes a gain or loss
of chromosomal material. Unbalanced abnormalities of chromosomes cause congenital anomalies and
neuro developmental disorders more commonly than balanced rearrangements. Structural alterations
can be caused by translocations, ring chromosomes, insertions, deletions, or complex rearrangements.

Chromosomal disorders as a group are common, with a frequency estimated at 1 in 120 live-born infants.
Therefore, standard karyotype analysis remains the first-line test. Statistically, numerical chromosome
anomalies are the most common. Among newborns, trisomy 21 (Down syndrome) and trisomy 18
(Edwards syndrome) occur with considerable frequency. Turner syndrome, the only sex chromosome
abnormality that presents with common clinical signs in newborns, is also common, occurring with a
frequency of 0.4% in live-born females.

While each of these disorders can vary in presentation, commonly reported physical features often lead
the clinician to strongly suspect the diagnosis. Chromosome analysis is then ordered to confirm the
practitioner’s suspicion.
 INTRODUCTION

Chromosomal disorder Disruption of brain development, with a concomitant negative impact on

intellectual function, is in some case due to a chromosomal disorder. These disorder arise from a change
in the amount of DNA in the genome or an abnormal arrangement of genes. The change in DNA content
may involve loss or gain of an entire chromosome or a part of a chromosome. Distinct from chromosomal
disorder are mendelian or monogenic disorders and those in which complex traits are due to interactions
among multiple genes. It is noteworthly, however that the line between chromosomal disorders is bridged
under conditions in which a chromosomal deletion includes several genes whose decreased does creates
what appears to be constellation oof mendelian or monogenic disorders. These cases are referred to as
contiguous gene syndromes

.While several mechanisms can be identified as contributing to the changes induced by adding or deleting
DNA to the genome, a prominent one is that the change in the dose of one or more genes i.e. copy number
variation (CNV) directly or indirectly impacts brain structure or functions. The detection of chromosomal
disorders and other orders of the genome is enable by a number of routine and increasingly advanced
technologies. Karyotype analyes with G-banding and fluorescent in situ hybridization(FISH) analysis aare
commonly used. Higher resolution is achieved through comparative genome hybridization(CGH) and
genomic microarrays. We are fast approaching an era in which even very subtle changes in DNA content
and sequence can be detected using tools that can be widely applied clinically. Using the latest generation
of genomic micarrays, CNVs at the kilobase level can be detected. For example, in one study to identify
chromosomal abnormalities using microarrays analysis, pathogenic rearrangements were detected in
subtelomeric regions in around 4% of patients, including approximately 3% of those in whom karyotype
analysis was normal. Even more striking is the finding from genome studies in normal individuals that
each human genome may contain 1000 large CNVs.

There are several distinct types of chromosomal disorders.

 CONCLUSION

1. A chromosomal disorders occurs when there is a change in the number of structure of the
chromosomes

2. This change in the amount ir arrangement of, the genetic information in the cell may result in
problems in the growth, development and/or functioning of the body systems.

Although curing chromosomal disorders is not easy, it is never too late to do treatments to minimize the
effects. Both the two syndromes included in this article are caused due to an addition of an XII-
chromosome. However, many such abnormalities occur due to the deletion or addition of chromosomes.

First, the condition demonstrates that human sexual development is a complex process, influenced not only bhy the
SRY gene on the Y chromosome, but also by other gene found elsewhere. Second, it shows the most people carry
genes for both male and female characteristics, as illustrated by the fact that those with androgen-insensitivity
syndrome have the capacity to produce female characteristics, even through they have male chromosome.

Indeed, the genes for most male and female Secondary sex characteristics are present not on the sex chromosomes
but on autosomes. the key to maleness and femaleness lies not in the genes but in the control of the expression
 TYPES OF CHROMOSOMAL DISORDERS

CHROMOSOMAL DISORDERS IN HUMANS

Each human cell contains 46 (2n) chromosomes present as 23 pairs (n pairs), out of which 22 are
autosomes and 1 pair of sex chromosomes.

Chromosomal disorders result from structural changes or numerical changes in chromosomes.

A. CHROMOSOMAL DISORDERS DUE TO NUMRICAL ABNORMALITIES

Chromosomal disorders are due to the change in the number of chromosomes present. This can be
categorised into various types:

Aneuploidy: loss or gain of a chromosome. This happens 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 chromosome less (2n-1)

Aneuploidy can be due to nondisjunction of autosomes i.e. chromosomes 1-22 or sex chromosomes.

Karyotype of Down’s syndrome fig. 1

Klinefelter’s syndrome
 Turner’s syndrome

Chromosomal disorders due to aneuploidy: This is the cause of most of the genetically inherited
disorders and abortion during pregnancy

Genetic Defect in Genotype No. of Phenotypic effect

Disorder Chromosome
s

Down’s Autosomes Trisomy of 47  1:700 live

syndrome 21st chromosom births
e  Short
statured
with a small
round head
 Furrowed
tongue with
partially
open mouth
 Broad palm
with palm
crease
 Called as
mongolism
or
Mongolian
idiocy
 Susceptible
to heart
disease and
respiratory
problems
 Shorter life
span
  Physical,
psychomot
or and
mental
developme
nt is
retarded
Patau Trisomy of 47  1:5000 live
syndrome 13th chromosom births
e  Rarely live
for more
than a few
months
 Sloping
forehead,
hair clip
and cleft
palate
 Serious
defects in
the eyes,
brain,
kidney or
circulatory
system
 Mentally
retarded
Edward’s Trisomy of 47  1:10000
syndrome 18 chromosom
th
live births
e  Multiple
malformati
ons like in
lower jaw,
fingers,
skull, face
and feet
 Cardiac
malformati
ons
 Can’t live
for more
than 3-4
months
Klinefelte Sex XXY 47  These
r’s chromosom males have
syndrome e tall and
masculine
stature with
feminine
characterist
ics
 Developme
nt of
breasts
(gynecomas
tia)
 Sterile
 Small
testicles,
 high-
pitched
voice and
sparse body
hairs
 Mental
retardation
Turner’s Monosomy- XO 45  1:5000 live
syndrome births
 Only viable
monosomy
in humans
 Sterile
females
with short
stature
 Breasts and
ovaries are
underdevel
oped, thin
and less
pubic hairs
Triple X XXX 47  1:1000 live
syndrome births
 They are
called
super
females
 Mild
developme
nt delays
and
menstrual
irregulariti
es
XYY XYY 47  Males with
syndrome an unusual
height
 Severe acne
 Below
normal
intelligence

 Euploidy: Loss or gain of the whole set of chromosome. Mostly occurs in plants.

 Haploid: Loss of one set of the chromosomes, i.e. ‘n’ number of chromosomes
 Polyploid: Addition of one or more set of chromosomes, e.g. ‘3n (triploid)’, ‘6n (hexaploid)’ etc.

B. Chromosomal disorders due to structural abnormalities

This happens when a large set of genes are deleted, duplicated or rearranged causing structural changes
in 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 lost from reorganising nuclei or digested by
nucleases. The resulting chromosome lacks certain genes, that gets inherited to offspring. This condition
is usually lethal due to missing genes.

 Deletion can be terminal, where a terminal portion of a chromosome breaks resulting in one break
 Intercalary deletion, where an intermediate portion is lost resulting from two breaks, which results
in 3 pieces. The middle piece is lost and the other two parts rejoin
⇒ Example of disorder due to deletion:
Cri du chat (cry of the cat): Deletion of a small portion of 5th chromosome. Children with this disease
have a small head with unusual facial features, severe mental retardation and make a sound like a cat
while crying.

2) Duplication: The presence of part of a chromosome in excess is known as duplication. If the

duplication is present only in one of the homologous pair of a chromosome, the duplicated part makes a
loop to maximise juxtaposition of homologous regions during pairing. The extra segment can be arranged
in many ways:
  Tandem duplication, where the duplicated region is present side by side (ABCDEF→ABCDEDEF)
 Reverse tandem, here duplicated region is just reverse of the normal sequence
(ABCDEF→ABCDEEDF)
 Displaced duplication, here duplicated region is not situated adjacent to the normal sequence
 Transposed duplication, duplicated part becomes attached to a non-homologous chromosome
 Extra-chromosomal duplication, here duplicated part acts as an independent chromosome in
the presence of centromere
⇒ Example of disorder due to duplication:

Fragile X: Affects 1:1500 males and 1:2500 females. This is the most common form of mental
retardation, where the CGS segment is repeated more than 200 times.

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. Its effects are not as severe as in other
structural defects

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. There is no addition or loss of genes, only the rearrangement
occurs. This rearrangement may lead to phenotype changes pertaining to the new environment. It can
cause difficulties in the development of egg, sperm or zygote. These often result in miscarriages and
children born with disabilities.

Reciprocal translocation, here segment of two chromosomes gets interchanged


 Robertsonian translocation, here an entire chromosome attaches to another chromosome
⇒ Example of disorder due to translocation:

Acute Myelogenous Leukemia: In this type of cancer, bone marrow and cells derived from it show the
presence of a short chromosome named as “Philadelphia (Ph1) chromosome”. The 22nd chromosome loses
a part of its arm which gets translocated to the distal end of the 9th chromosome. It is not transmitted to
the offspring.
 BIBLOGRAPHY

. https://byjus.com/biology/chromosomal-abnormalities/

. https://my.clevelandclinic.org/health/diseases/21751-genetic-disorders

.https://www.ncbi.nlm.nih.gov/books/NBK115545/

.https://ncert.nic.in/textbook/pdf/kebt108.pdf

.https://unacademy.com/content/cbse-class-12/study-material/biology/chromosomal-disorders/

.https://www.vedantu.com/biology/chromosomal-disorders-in-humans

.https://www.sciencedirect.com/topics/medicine-and-dentistry/chromosome-disorder
 CAUSES OF CHROMOSOMAL DISORDER
Almost every cell in our body contains 23 pairs of chromosomes, for a total of 46 chromosomes. Half of the
chromosomes come from our mother, and the other half come from our father. The first 22 pairs are called autosomes.
The 23rd pair consists of the sex chromosomes, X and Y. Females usually have two X chromosomes, and males usually
have one X and one Y chromosome in each cell. All of the information that the body needs to grow and develop comes
from the chromosomes. Each chromosome contains thousands of genes, which make proteins that direct the body’s
development, growth, and chemical reactions.
Many types of chromosomal abnormalities exist, but they can be categorized as either numerical or structural. Numerical
abnormalities are whole chromosomes either missing from or extra to the normal pair. Structural abnormalities are when
part of an individual chromosome is missing, extra, switched to another chromosome, or turned upside down.
Chromosomal abnormalities can occur as an accident when the egg or the sperm is formed or during the early
developmental stages of the fetus. The age of the mother and certain environmental factors may play a role in the
occurrence of genetic errors. Prenatal screening and testing can be performed to examine the chromosomes of the fetus
and detect some, but not all, types of chromosomal abnormalities.
Chromosomal abnormalities can have many different effects, depending on the specific abnormality. For example, an
extra copy of chromosome 21 causes Down syndrome (trisomy 21). Chromosomal abnormalities can also cause
miscarriage, disease, or problems in growth or development.
The most common type of chromosomal abnormality is known as aneuploidy, an abnormal chromosome number due to
an extra or missing chromosome.Most people with aneuploidy have trisomy (three copies of a chromosome) instead of
monosomy (single copy of a chromosome). Down syndrome is probably the most well-known example of a
chromosomal aneuploidy. Besides trisomy 21, the major chromosomal aneuploidies seen in live-born babies are: trisomy
18; trisomy 13; 45, X (Turner syndrome); 47, XXY (Klinefelter syndrome); 47, XYY; and 47, XXX.
Structural chromosomal abnormalities result from breakage and incorrect rejoining of chromosomal segments. A range
of structural chromosomal abnormalities result in disease. Structural rearrangements are defined as balanced if the
complete chromosomal set is still present, though rearranged, and unbalanced if information is additional or missing.
Unbalanced rearrangements include deletions, duplications, or insertions of a chromosomal segment. Ring chromosomes
can result when a chromosome undergoes two breaks and the broken ends fuse into a circular chromosome. An
isochromosome can form when an arm of the chromosome is missing and the remaining arm duplicates.
Balanced rearrangements include inverted or translocated chromosomal regions. Since the full complement of DNA
material is still present, balanced chromosomal rearrangements may go undetected because they may not result in
disease. A disease can arise as a result of a balanced rearrangement if the breaks in the chromosomes occur in a gene,
resulting in an absent or nonfunctional protein, or if the fusion of chromosomal segments results in a hybrid of two
genes, producing a new protein product whose function is damaging to the cell.
 Symptoms of chromosomal abnormalities

Some of the symptoms of chromosome abnormalities are:

 Infertility
 Head shaped abnormally
 Little to no hair on the body
 Height of below average
 Muscle mass reduced
 Physical and mental impairments
 Very less birth weight
 Openings in the mouth or lip
 Disabilities in learning
 Defects in the kidneys, heart, stomach, lungs, and heart
 Distinctive features of the face
 Causes of chromosomal abnormalities in pregnancy

The chromosome structure is like a stick structure, and it is located in the middle of every cell in
our body. There are 23 pairs of chromosomes in each and 46 chromosomes. If there is any issue in the
chromosome, it causes problems in the entire body.
During pregnancy, chromosomal abnormalities can happen due to an error during cell division. The
anomalies can occur due to these reasons:

 Meiosis – errors in the dividing of sex cells

 Mitosis– error find while diving other cells
 Teratogens– things to which a mother is exposed during the time of pregnancy such as different
medicines, alcohol, toxic chemicals, tobacco, radiations, bacteria and viruses, and uncontrolled diabetes
 Risk factors for chromosomal disorders in pregnancy
Some of the risk factors for chromosomal disorders in pregnancy are:

 History of prior stillbirth or multiple miscarriages

 The age of the mother is 35 or even older
 The age of the father is 40 or even older
 Types of disorders can be seen during the time of pregnancy
 Single gene disorders

When a disease is caused due to an alteration in one gene, it causes single-gene disorders. Some of the
examples are sickle cell anemia, cystic fibrosis, hemophilia, Marfan syndrome, and Tay-Sachs disease.

 Chromosomal abnormalities

This kind of situation occurs when there are missing chromosomes or some extra one. Down syndrome is
considered to be one of the most common types of chromosomal abnormality. In this scenario, one
additional chromosome number 21 is found. It is mostly inherited from the parents or mostly happens by
chance.

 Complex or multifactorial disorders

This situation is caused by the combination of environmental factors as well as genetic predispositions. It
is very harder to understand who will be at risk. Some of the examples are cleft palate or cleft lip,spina
bifida, and heart defects.

 Teratogenic disorders

This occurs when the baby becomes exposed to different substances during the time of pregnancy. It can
cause abnormalities, which are known as teratogens. During the time of development of the organs in the
first trimester, babies are susceptible. Some teratogens include toxic substances and infections, drugs,
alcohol, high radiation exposure, and certain medications’ involvement.
 Prevention for chromosomal abnormalities during pregnancy
The risk of passing chromosomal abnormalities to your babies increases as your age
increases. You need to follow specific steps to prevent chromosomal abnormalities during
the time of pregnancy. Some of the steps are:

 Consult a doctor before three months you want to conceive. Discuss your health issues, history of your
health, immunizations, and drugs
 Avoid drinking alcohol and smoking
 Take prenatal vitamins every day for three months before you want to conceive. The medicines should
contain 400 micrograms of folic acid.
 It would be best if you keep visiting the doctor often
 Try to consume healthy foods. Foods that are rich in folic acids like grain products, orange juice,
oranges, peanuts, and breakfast cereals are essential.
 Start the process when you have a healthy weight
 Use drugs that are only given by doctors who know that you are pregnant
 Testing for chromosomal disorders
There are two kinds of testing for chromosomal disorders. They are:

 Screening tests – This test helps to know whether the baby has any kind of genetic disorders or not
 Diagnostic tests – This involves several tests. The results of this help to determine specific genetic
disorders.

The tests for chromosomal disorders are optional. Hence, they are available to women who do not have
any risks at all.

Treatment for chromosomal disorders

The genetic makeup of a person is affected by chromosomal disorders. Therefore they cannot be restored
by any sort of treatment. But there are still some treatments that can help make life easier for individuals
with chromosomal disorders.
Some of the treatments are physical or occupational therapy, injected growth hormones, and hormone
replacement therapies. These will help to treat some of the symptoms of chromosomal genetic disorders
and the issues that are connected as well.
 HINDUSTANI KENDRIYA VIDYALAYA

BIOLOGY INVESTRIGATORY REPORT

TOPIC: CHROMOSOMAL DISORDER
SESSION: 2024-2025

Submitted by:
Guided by :-
Roll NO: Ms.
Priya Joshi
Registration No: