CROMOSOMAL AND

MENDELIAN DISORDERS

Introduction
So Chromosomal disorders are typically those phenotypes that have
changed, resulting in visible alteration caused by genetic inheritance
called imprinting. However, some changes occur due to inheritance,
whereas some occur in an accident while the reproductive cells are
in early foetal development. There are many types of disorders
affecting different parts or behaviour of a human.

Chromosomes are usually organised packages of DNA found in our

body; it makes our body develop and function; typically, humans
have 23 chromosomes. Each person inherits one pair of
chromosomes from their mother and one pair from their father.
However, these chromosomes can vary in size leading to
chromosomal disorders. There are many different types of
chromosomes, mainly sex chromosomes and autosomal
chromosomes; they are the codes that generally contain a human’s
genetic information.

So, Chromosomal disorders or any syndrome are usually

characteristic of the malformations of malfunctions in the body that
can be seen physically and mentally occurring due to abnormal
chromosomes in number or constitution, due to deletion or addition
of genetic codes.
What are Genetic Disorders?
A genetic disorder is a health problem caused by one or more
abnormalities in the genome. It can be caused by a mutation in a
single gene (monogenic) or multiple genes (polygenic) or by a
chromosomal abnormality. Although polygenic disorders are the
most common, the term is mostly used when discussing disorders
with a single genetic cause, either in a gene or chromosome. The
mutation responsible can occur spontaneously before embryonic
development (a de novo mutation), or it can be inherited from two
parents who are carriers of a faulty gene (autosomal recessive
inheritance) or from a parent with the disorder (autosomal dominant
inheritance). When the genetic disorder is inherited from one or both
parents, it is also classified as a hereditary disease. Some disorders
are caused by a mutation on the X chromosome and have X-linked
inheritance. Very few disorders are inherited on the Y chromosome
or mitochondrial DNA (due to their size).

There are well over 6,000 known genetic disorder, and new genetic
disorders are constantly being described in medical literature. More
than 600 genetic disorders are treatable. Around 1 in 50 people are
affected by a known single-gene disorder, while around 1 in 263 are
affected by a chromosomal disorder. Around 65% of people have
some kind of health problem as a result of congenital genetic
mutations. Due to the significantly large number of genetic
disorders, approximately 1 in 21 people are affected by a genetic
disorder classified as "rare" (usually defined as affecting less than 1
in 2,000 people). Most genetic disorders are rare in themselves.

Genetic disorders are present before birth, and some genetic

disorders produce birth defects, but birth defects can also be
developmental rather than hereditary. The opposite of a hereditary
disease is an acquired disease. Most cancers, although they involve
genetic mutations to a small proportion of cells in the body, are
acquired diseases. Some cancer syndromes, however, such as
BRCA mutations, are hereditary genetic disorders.

Genetic disorders can be:

 Chromosomal: This type affects the structures that hold your
genes/DNA within each cell (chromosomes). With these
conditions, people are missing or have duplicated chromosome
material.
 Complex (multifactorial): These disorders stem from a
combination of gene mutations and other factors. They include
chemical exposure, diet, certain medications and tobacco or
alcohol use.
 Single-gene (monogenic): This group of conditions occurs from
a single gene mutation.
 Types of Chromosomal Disorder

Down syndrome:
This syndrome is a type of trisomy as there is an extra copy of
chromosome 21. It is named after the person who discovered this
chromosomal disorder – Langdon Down. The symptoms in a person
include the following:

 A person is short, small and round head

 Physical and mental development is retarded
 Furrowed tongue and partially open mouth,
 Broad palm
Klinefelter syndrome:
This genetic disorder arises due to the presence of an additional X
chromosome in males. Thus, resulting in a chromosome count of 47
(44 + XXY) instead of 46. The symptoms include:

 Such a person has a masculine physique but has feminine

development like the development of breasts
 Such individuals are sterile, i.e.; they cannot reproduce

Turner syndrome:
Unlike Klinefelter syndrome, in this chromosomal disorder there is
the absence of one X chromosome in females. Hence, decreasing the
chromosomes count to 45 (44 + X0). The symptoms include the
following:

 Such females are sterile

 Have rudimentary ovaries and there is the absence of
secondary sexual characters.
Haploid and Diploid Cells:
A haploid or monoploid is a cell or organism that has just a single
copy of each chromosome. Human eggs and sperms are examples.

Diploid is a cell or organism that has paired or two sets of

chromosomes, one from each parent.

Physical signs & symptoms of an XXY chromosome disorder

In this XXY chromosome disorder, the physical as well as structural

changes which can be noticeable are-

 Affected testicular growth

 Testicles smaller than the standard size
 Reduced muscle tone
 Reduction of body and facial hair
 Enlarged breast tissue
Causes of Chromosomal Disorder:
Most of the DNA in your genes instructs the body to make proteins.
These proteins start complex cell interactions that help you stay
healthy.

When a mutation occurs, it affects the genes’ protein-making

instructions. There could be missing proteins. Or the ones you have
do not function properly. Environmental factors (also called
mutagens) that could lead to a genetic mutation include:

 Chemical exposure.
 Radiation exposure.
 Smoking.
 UV exposure from the sun.
Diagnosis:
The doctor can diagnose this syndrome, starting with the physical
test to learn about general health symptoms. Then the doctors
mainly conduct two types of tests: the chromosome analysis tests,
also called the karyotype analysis test, where a blood test is taken to
screen the chromosomes. Then there is a hormone test used to
check the hormone levels in the blood or urine.

Due to the wide range of genetic disorders that are known, diagnosis
is widely varied and dependent of the disorder. Most genetic
disorders are diagnosed pre-birth, at birth, or during early childhood
however some, such as Huntington's disease, can escape detection
until the patient begins exhibiting symptoms well into adulthood.

The basic aspects of a genetic disorder rests on the inheritance of

genetic material. With an in depth family history, it is possible to
anticipate possible disorders in children which direct medical
professionals to specific tests depending on the disorder and allow
parents the chance to prepare for potential lifestyle changes,
anticipate the possibility of stillbirth, or contemplate termination.
Prenatal diagnosis can detect the presence of characteristic
abnormalities in fetal development through ultrasound, or detect the
presence of characteristic substances via invasive procedures
which involve inserting probes or needles into the uterus such as in
amniocentesis.

Tests for diagnosis of chromosomal disorders

 Carrier testing: This blood test shows whether you or your
partner carry a mutation linked to genetic disorders. This is
recommended for everyone considering pregnancy, even if
there is no family history.
 Prenatal screening: This testing usually involves blood testing
from a pregnant person that tells them how likely it is that a
fetus could have a common chromosome condition.
  Prenatal diagnostic testing: You can find out whether the
developing fetus faces a higher risk for certain genetic
disorders. Prenatal testing uses a sample of fluid from your
uterus (amniocentesis).
 Newborn screening: This test uses a sample of your newborn
baby’s blood and is performed on all babies born in Ohio.
Detecting genetic disorders early in life can help your child
receive timely care if needed.

Prognosis
Not all genetic disorders directly result in death; however, there are
no known cures for genetic disorders. Many genetic disorders affect
stages of development, such as Down syndrome, while others result
in purely physical symptoms such as muscular dystrophy. Other
disorders, such as Huntington's disease, show no signs until
adulthood. During the active time of a genetic disorder, patients
mostly rely on maintaining or slowing the degradation of quality of
life and maintain patient autonomy. This includes physical therapy
and pain management.

Not all genetic disorders directly result in death; however, there are
no known cures for genetic disorders. Many genetic disorders affect
stages of development, such as Down syndrome, while others result
in purely physical symptoms such as muscular dystrophy. Other
disorders, such as Huntington's disease, show no signs until
adulthood. During the active time of a genetic disorder, patients
mostly rely on maintaining or slowing the degradation of quality of
life and maintain patient autonomy. This includes physical therapy
and pain management.
Treatment:
The treatment of genetic disorders is an ongoing battle, with over
1,800 gene therapy clinical trials having been completed, are
ongoing, or have been approved worldwide. Despite this, most
treatment options revolve around treating the symptoms of the
disorders in an attempt to improve patient quality of life.

Gene therapy refers to a form of treatment where a healthy gene is

introduced to a patient. This should alleviate the defect caused by a
faulty gene or slow the progression of the disease. A major obstacle
has been the delivery of genes to the appropriate cell, tissue, and
organ affected by the disorder. Researchers have investigated how
they can introduce a gene into the potentially trillions of cells that
carry the defective copy. Finding an answer to this has been a
roadblock between understanding the genetic disorder and
correcting the genetic disorder.

 Medications to manage symptoms or chemotherapy to slow

abnormal cell growth.
 Nutrition counseling or dietary supplements to help you get the
nutrients your body needs.
 Physical, occupational or speech therapy to maximize your
abilities.
 Blood transfusion to restore levels of healthy blood cells.
 Surgery to repair abnormal structures or treat complications.
 Specialized treatments, such as radiation therapy for cancer.
 Organ transplant, which is a procedure to replace a
nonfunctioning organ with one from a healthy donor.

Prevention from Chromosomal

Disorder
 "Prevention is better than cure", this principle is practiced
across the world. Early detection of disease helps in early
diagnosis and better treatment. Understanding the genetics

behind these disorders will provide better opportunities for disease

prevention.

The genetic testing is gaining importance to improve the quality of

life. It identifies predisposition to various genetic health risks and
helps you achieve your fitness goals.

What are Mendelian Disorders?

In humans, Mendelian disorder is a type of genetic disorder primarily
resulting due to alterations in one gene or as a result of
abnormalities in the genome. Such a condition can be seen since
birth and be deduced on the basis of family history using the family
tree. The analysis hence carried out is known as pedigree analysis.

These genetic disorders are quite rare and may affect one person in
every thousand or a million. Genetic disorders may or may not be
inherited. Inheritable genetic disorders usually occur in the germline
cells, whereas in non-inheritable genetic disorders the defects are
generally caused by new mutations or due to some changes in the
DNA. For instance, cancer may either be caused by an inherited
genetic condition, or by a new mutation caused by the environmental
causes or other.

Types of Mendelian Genetic disorders

According to Mendel’s’ laws of inheritance, the different types of
Mendelian disorders include:
  Autosomal dominant.
 Autosomal recessive.
 Sex-linked dominant.
 Sex-linked recessive.
 Mitochondrial.

The various types of Mendelian disorders can be identified easily

from the pedigree analysis.

Examples of Mendelian Disorders

 Sickle cell anaemia
 Muscular dystrophy
 Cystic fibrosis
 Thalassemia
 Phenylketonuria
 Colour blindness
 Skeletal dysplasia
 haemophilia

Haemophilia
This is a type of sex-linked recessive disorders. According to the
genetic inheritance pattern, the unaffected carrier mother passes on
the haemophilic genes to sons.
It is a very rare type of disease among females because for a female
to get the disease, the mother should either be hemophilic or a
carrier but the father should be haemophilic.

This is a disorder in which blood doesn’t clot normally as the protein

which helps in clotting of blood is affected. Therefore, a person
suffering from this disease usually has symptoms of unexplained and
excessive bleeding from cuts or injuries.

This type of genetic disorder is caused when the affected gene is

located on the X chromosomes. Therefore, males are more
frequently affected.

Sickle cell anemia

This is a type of autosomal recessive genetic disorder.

According to Mendelian genetics, its inheritance pattern follows

inheritance from two carrying parents.

It is caused when the glutamic acid in the sixth position of the beta-
globin chain of haemoglobin molecule is replaced by valine. The
mutant haemoglobin molecule undergoes a physical change which
changes the biconcave shape into the sickle shape.

This reduces the oxygen-binding capacity of the haemoglobin

molecule.
Phenylketonuria
This genetic disorder is autosomal recessive in nature.

It is an inborn error caused due to the decreased metabolism level of

the amino acid phenylalanine.

In this disorder, the affected person does not have the enzyme that
converts phenylalanine to tyrosine. As a result, phenylalanine
accumulation takes place in the body and is converted into many
derivatives which result in mental retardation.

Thalassemia
This is a type of disorder in which the body makes an abnormal
amount of haemoglobin. As a result, a large number of red blood
cells are destroyed that leads to anaemia.

It is an autosomal recessive disease.

Facial bone deformities, abdominal swelling, dark urine are some of
the symptoms of thalassemia

Cystic Fibrosis
This is an autosomal recessive disorder.

This disease affects the lungs and the digestive system and the body
produces thick and sticky mucus that blocks the lungs and
pancreas.

People suffering from this disorder have a very short life-span.

Bibliography:
For successfully completing the project report following are taken
reference from:

 Wikipedia
 National institute of research(NIR)
 National human genome research institute(NHGRI)
 NCERT- biology class XII
 Cleveland clinic
 Boston children hospital
 Byju’s
 Central Public Sr. Secondary
School

Session - 2024-25
Biology project on :-
‘Chromosomal and Mendelian
Disorders’
Class - XII-Science
Project Report submitted to -
Central Board of Secondary
Education (New Delhi)

Submitted to:- Submitted by:

Ms. Satnam Kaur Ms. Anshika Jani
 Acknowledgement
As a student of class XII Science, it was a
pleasure to complete this project prescribed by
CBSE, New Delhi as a course curriculum. In its
compliance, I chose to work on – Chromosomal
And Mendelian Disorders

Received generous help from several people in

completion of this project. To be honest, I am
indebted to Mrs. Alka Sharma, our chairperson
for giving me this opportunity to research and I
got to know many new things regarding the
topic. And thanks to our respected principal
Mrs.
Poonam Rathore for her constant support and
encouragement. It is my pleasure to express a
sense of gratitude and veneration to our subject
teacher Ms. Satnam Kaur for her guidance.

I am also grateful to my other companions for

their care and support in completion of this
project in the given time period.

Anshika Jani
 CERTIFICATE

This is to certify that Anshika Jani of

class XII Science of Central Public Sr. Sec.
School has carried out the project on
‘Chromosomal and Mendelian disorders’
under the guidance of
Ms. Satnam Kaur. All the work related to
this study was done by the candidate and
her approach to the subject was sincere.

Mrs. Poonam Rathore Ms. Satnam

Kaur (Principal) (Subject
Teacher)

Central Public Sr. Secondary School,

New Bhupalpura, Udaipur - 313001(Raj.)
 Index
 Introduction

 Types of chromosomal
disorders

 Causes

 Diagnosis

 Prognosis

 Treatment

 Prevention

 Mendelian disorders

 bibliography