MUTATI

ON
 MUTATION
MUTATION
- Mutation is a change in the DNA sequence of an organism. It can
result from errors in DNA replication during cell division, exposure to mutagens,
or viral infection.
- It is the changing structure of a gene, resulting in a variant form that
may be transmitted to subsequent generations, caused by the alteration of single
base units in DNA, or the deletion, insertion, or rearrangement of larger sections
of genes or chromosomes.

2
 TYPES OF MUTATION
Insertions and
Substitution
Deletions
Substitutions are base pair-specific The removal of a base, also known
mutations also referred to as point as a deletion, or the addition of a
mutations. Nucleotide substitutions, base, known as an insertion, can also
in which one base is swapped out for result in mutations. Sometimes a
another, are the most frequent type group of three nucleotides is added
of mutation. Transitions and or deleted, adding or removing an
transversions are the two different entire amino acid during the
categories of substitutions. translation of an mRNA produced
from the DNA-mutated gene. When
they change the reading frame of the
codons, these are known as
“frameshift mutations”.
 01
Down syndrome
Down syndrome is a condition in which a person
has an extra copy of chromosome 21.
Chromosomes are small “packages” of genes in
the body. They determine how a baby's body
forms and functions as it grows during pregnancy
and after birth. Typically, a baby is born with 46
chromosomes. This changes the way their brain
and body develop.
 What are the symptoms of down
1
syndrome?
2 3
A flat nose Slanted eyes that point
upward A short neck
bridge

4 5 6
Small ears, hands Weak muscle tone Shorter-than-average
and feet at birth height
Cognitive symptoms of Down syndrome
Walk and move (gross and fine motor
skills). What causes Down syndrome?
Speak (language development skills). An extra chromosome causes Down
Learn (cognitive skills). syndrome. Each human cell typically
Play (social and emotional skills). contains 23 pairs of chromosomes, which
As a result, it may take your child longer to totals 46. Down syndrome occurs because
do the following things: of changes in the way cells in chromosome
Toilet training. 21 divide. Every person with Down
Speaking their first words. syndrome has an extra chromosome 21 in
Taking their first steps. some or all of their cells.
Eating food independently. There are three types of Down syndrome
Behavioral symptoms of Down syndrome with different causes, including:
Stubbornness and tantrums. Trisomy 21.
Difficulty paying attention. Translocation.
Obsessive or compulsive behaviors. Mosaicism.
 Different types of Down syndrome

Trisomy 21
(Nondisjunction) Mosaicism Translocation

7
 2
Edwards syndrome
Edwards syndrome or trisomy 18 is a
chromosomal abnormality. Chromosomes are the
threadlike structures in cells that hold genes.
Genes carry the instructions needed to make every
part of a baby's body. When an egg
and sperm join and form an embryo, their
chromosomes combine. Each baby gets 23
chromosomes from the mother's egg and 23
chromosomes from the father's
sperm -- 46 in total. Sometimes the mother's egg
or the father's sperm contains the wrong number
of chromosomes. As the egg and sperm combine,
this mistake is passed on to the baby.
There are three types of trisomy 18:
Full trisomy 18.
The extra chromosome is in every cell in the
baby's body. This is by far the most common
type of trisomy 18.

partial trisomy 18.

The child has only part of an extra chromosome 18. That extra
part may be attached to another chromosome in the egg or
sperm (called a translocation). This type of trisomy 18 is very
rare.

Mosaic trisomy 18.

The extra chromosome 18 is only in some of
the baby's cells. This form of trisomy 18 is
also rare.
 3
Klinefelter’s
Syndrome
Klinefelter syndrome, also known as 47,XXY is a
genetic condition that results when a boy is born
with an extra copy of the X chromosome.
Klinefelter syndrome is a genetic condition
affecting males, and it often isn't diagnosed until
adulthood.
Klinefelter syndrome may negatively impact
testicular growth, resulting in testicles that are
smaller than usual, which can limit testosterone
output. In addition, the syndrome may result in
less body and facial hair, less muscle mass, and
increased breast tissue. Not everyone who has
Klinefelter syndrome experiences the same
symptoms and outcomes.
 Babies Boys and teenagers Men

Signs and symptoms may Signs and symptoms may include: Signs and symptoms may
include: • Taller than average stature include:
Weak muscles • Longer legs, shorter torso and broader hips • Low sperm count or no
Slow motor development — compared with other boys sperm
taking longer than average to sit • Absent, delayed or incomplete puberty • Small testicles and penis
up, crawl and walk • After puberty, less muscle and less facial and • Low sex drive
Delay in speaking body hair compared with other teens • Taller than average height
Problems at birth, such as • Small, firm testicles • Weak bones
testicles that haven't descend into Small penis • Decreased facial and body
the scrotum • Enlarged breast tissue (gynecomastia) hair
• Weak bones • Less muscular compared with
• Low energy levels other men
• Tendency to be shy and sensitive • Enlarged breast tissue
• Difficulty expressing thoughts and feelings or • Increased belly fat
socializing
• Problems with reading, writing, spelling or
math
 3
Klinefelter’s
Syndrome
Klinefelter syndrome, also known as 47,XXY is a
genetic condition that results when a boy is born
with an extra copy of the X chromosome.
Klinefelter syndrome is a genetic condition
affecting males, and it often isn't diagnosed until
adulthood.
Klinefelter syndrome may negatively impact
testicular growth, resulting in testicles that are
smaller than usual, which can limit testosterone
output. In addition, the syndrome may result in
less body and facial hair, less muscle mass, and
increased breast tissue. Not everyone who has
Klinefelter syndrome experiences the same
symptoms and outcomes.
 4
Patau syndrome

Is a serious rare genetic disorder caused by having

an additional copy of chromosome 13 in some or
all of the body's cells. It's also called trisomy 13.
Each cell normally contains 23 pairs
of chromosomes, which carry the genes you
inherit from your parents. But a baby with Patau's
syndrome has 3 copies of chromosome 13, instead
of 2.
 Types of Klinefelter syndrome are
divided into 3:
1 2 3
Classical Type Klinefelter Mosaic Type Klinefelter Barr-Shaver-Carr
Syndrome: Syndrome: syndrome:

The most frequently observed The state of mosaic Very rarely, multiple extra X
Klinefelter type is the Klinefelter syndrome, which chromosomes can be
condition that the X is observed in approximately observed in Klinefelter
chromosome, which is called 20% of patients and that only syndromes. In such cases,
classical and is observed in some cells have extra X symptoms manifest more
80% of patients, has an extra chromosomes. Symptoms of seriously.
copy in each cell. this type are milder and less
pronounced.
 Depending on how the chromosomes connect, one of three trisomies can develop at chromosome 13.

Complete trisomy 13
Trisomy 13 is brought on by sporadic copying errors where too much genetic material is connected to
a chromosome (full trisomy 13) before conception. Chromosome 13 is present in three copies rather than two in
individuals with trisomy 13. The excess genetic material on chromosome 13 contributes to the condition's
symptoms.

Translocation
When chromosome 13 translocates (attaches to another chromosome nearby) during the formation
of eggs and sperm during fetal development, symptoms are seen in roughly 20% of cases with trisomy 13. In
this instance, chromosome 13 is found in two pairs, and an additional copy of the chromosome forms and binds
with a chromosome pair close by, though not necessarily at the 13th place.

Mosaic trisomy 13
Chromosome 13 can occasionally have an extra copy in some bodily cells but not all. This indicates
that certain cells in the body contain three copies of chromosome 13 while others only have two copies (euploid).
The number of cells with the third copy of trisomy 13 determines how severe the symptoms are for a mosaic
trisomy 13 diagnosis. If more cells carry a third copy, the symptoms are more severe.
-Turner syndrome, also known as 45,X or 45,X0 is a 5. Turners
condition that affects only females, results when one of the
X chromosomes (sex chromosomes) is missing or partially
syndrome
missing. Turner syndrome may be diagnosed before birth
(prenatally), during infancy or in early childhood.
Occasionally, in females with mild signs and symptoms of
Turner syndrome, the diagnosis is delayed until the teen or
young adult years.
- Signs and symptoms may include short stature, premature
ovarian failure, a "webbed" neck, a low hairline at the back
of the neck, and swelling (lymphedema) of the hands and
feet. Some people with Turner syndrome have skeletal
abnormalities, kidney problems, and/or a congenital heart
defect. Most affected girls and women have normal
intelligence, but some have developmental delays, learning
disabilities, and/or behavior problems. Turner syndrome is
typically not inherited, but it can be inherited in rare cases.
 Causes

X chromosome
Monosomy. changes.

chromosome
Mosaicism. material.
Thank you!