BIOLOGY PROJECT

NAME=AJIT KUMAR
CLASS=12 S2

TOPIC:

CHROMOSOMAL
DISORDERS
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INTRODUCTION

In our society we sometimes come across

some people suffering from various

chromosomal diseases .These people are

not easily excepted by our society due to

various reasons like of getting prone to
that disease and many more.

In this Project you will come across the

types of various genetic disorders and
their mode of transmission.

CHROMOSOMAL
DISORDERS
GENETIC/CHROMOSOMAL DISORDER:

A genetic disorder is a genetic problem caused by one or more

abnormalities in genome, especially a condition that is present from
birth . Most genetic disorders are quite rare and affect one person in
every several thousands or millions.

SINGLE GENE DISORDER:

A single-gene disorder is the result of a single mutated gene. Over

4000 human diseases are caused by single-gene defects.
IT'S CAUSED BY:

AUTOSOMAL DOMINANT GENE:

Only one mutated copy of the gene will be necessary for a

person to be affected by an autosomal dominant disorder. Each
affected person usually has one affected parent. The chance a child
will inherit the mutated gene is 50%.
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EXAMPLE:

MARFAN SYNDROME

AUTOSOMAL RECESSIVE GENE:

Two copies of the gene must be mutated for a person to be

affected by an autosomal recessive disorder. An affected person
usually has unaffected parents who each carry a single copy of the
mutated gene (and are referred to as carriers).

EXAMPLE:

SICKLE CELL ANAEMIA:

It can be transmitted from parents to offsprings when both the partners are carrier
for the gene.The disease is controlled by a single allele HbS and HbA.

X - LINKED DOMINANT:

X-linked dominant disorders are caused by mutations in genes

on the X Chromosomes. Only a few disorders have this inheritance
pattern. Males and females are both affected in these disorders, with
males typically being more severely affected than females.

EXAMPLE:

Klinefelter syndrome :
47,XXY or XXY, is the set of symptoms that result from two
or more X chromosomes in males. The primary feature is sterlity.
Often symptoms may be subtle and many people do not realize they
are affected.
Klinefelter syndrome usually occurs randomly. An older mother might
increase the risk slightly. The condition is not inherited from one's
parents. The underlying mechanisms involves at least one extra X
chromosome in addition to a Y chromosomes such that there is a total
of 47 or more chromosomes rather than usual 46.
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X- LINKED RECESSIVE:

X-linked recessive conditions are also caused by mutations in

genes on the X chromosome. Males are more frequently affected than
females, and the chance of passing on the disorder differs between
men and women. The sons of a man with an X-linked recessive
disorder will not be affected, and his daughters will carry one copy of
the mutated gene. A woman who is a carrier of an X-linked recessive
disorder (XRXr) has a 50% chance of having sons who are affected and
a 50% chance of having daughters who carry one copy of the mutated
gene and are therefore carriers.

EXAMPLE:

Turner syndrome :
45,X, is a condition in which a female is partly or completely
missing an X chromosome. Signs and symptoms vary among those
affected. Often, a short and webbed neck, low hairline at the back of
the neck, and swollen hands and feet are seenTurner syndrome is not
usually inherited from a person's parents. No environmental risks are
known and the mother's age does not play a role. Turner syndrome is
due to a chromosomal abnormality in which all or part of one of the X
chromosomes is missing or altered. While most people have 46
chromosomes, people with TS usually have 45. The chromosomal
abnormality may be present in just some cells.
Turner syndrome is caused by the absence of one complete or partial
copy of the X chromosome in some or all the cells. The abnormal cells
may have only one X (45,X) .

Mitochondrial:

This type of inheritance, also known as maternal inheritance,

applies to genes in mitochondrial DNA. Because only egg cells
contribute mitochondria to the developing embryo, only mothers can
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pass on mitochondrial conditions to their children.

OTHER SYNDROMES:

DOWN'S SYNDROME:

A genetic disorder caused by the presence of all, or part of a third

copy of chromosome 21. It is typically associated with physical growth
delays, characteristic facial features, and mild to moderate
intellectual diabilities The average IQ of a young adult with Down
syndrome is 50, equivalent to the mental age of an 8- or 9-year-old
child.
The parents of the affected individual are typically genetically
normal.The extra chromosome occurs by random chance. There is no
known behavior or environmental factor that changes the risk. Down
syndrome can be identified during pregnancy by prenatal screening
followed by diagnostic testing, or after birth by direct observation and
genetic testing.
Trisomy 21 (also known by the karyotype 47,XX,+21 for females and
47,XY,+21 for males) is caused by a failure of the 21st chromosome to
separate during egg or sperm development. As a result, a sperm or
egg cell is produced with an extra copy of chromosome 21; this cell
thus has 24 chromosomes. When combined with a normal cell from
the other parent, the baby has 47 chromosomes, with three copies of
chromosome 21.