LESSON NUMBER 04

DATES January 26-February 10, 2022

SUBJECT Science 10
LESSON TITLE Chromosomal Mutations
LEARNING TARGETS ▪ Give examples of physical manifestations of
chromosomal mutation
▪ Differentiate between numerical and
structural chromosomal mutations
▪ Describe the types of chromosomal
mutations, and their effects

REFERENCE(S) ▪ Science 10 Breaking Through Science 10 (2nd

SOURCE(S) Edition) Pp 204-221
▪ Exploring Life Through Science Pp 297-300
AUTHORS ▪ Baguio, S., Felicerta C., et al.
▪ Bayquen, A., Pavico, J.,et al.
 UNIT

2
HEREDITY:
INHERITANCE
andVARIATION

SCIENCE 10 | MR. RANNIEL O. ABARCAR

CHROMOSOMAL
MUTATIONS
LESSON
QUARTER 3 | BIOLOGY
LESSON OBJECTIVES:
At the end of the lesson, students should be able to;

1. Give examples of physical manifestations of

chromosomal mutation
2. Differentiate numerical and structural chromosomal
mutations
3. Describe the types of chromosomal mutations, and their
effects
CHROMOSOMES
A chromosome is a thread-like structure that
contains the DNA or the genetic
information. Chromosomes are found inside
the nucleus of a cell.

Each chromosome is made of

protein and a single molecule of
deoxyribonucleic acid (DNA).
Passed from parents to offspring,
DNA contains the specific instructions
that make each type of living
creature unique.
CHROMOSOMAL MUTATIONS
This usually occurs during mitosis and
meiosis. The general types of chromosomal
mutation are numerical and structural
mutations.

A chromosomal mutation is a type of

mutation that involves a long
segment of DNA. It may involve
changes in parts of a chromosome
or in the entire set of chromosomes.
NUMERICAL MUTATION

Karyotyping is used to look for abnormal

numbers or structures of chromosomes.

A karyotype is an individual's
collection of chromosomes. The term
also refers to a laboratory technique
that produces an image of an
individual's chromosomes.
NUMERICAL MUTATION
Nondisjunction is the failure of a pair of
homologous chromosomes or a pair of sister
chromatids to separate during mitosis and
meiosis.

Numerical mutation results from

nondisjunction. Nondisjunction
during meiosis produces abnormal
gametes that can produce
abnormal offspring.
NUMERICAL MUTATION
Aneuploidy is a condition where there is an
addition or deletion of one or more
chromosomes.

The addition of one chromosome to

the normal 2N is called Trisomy (2N +
1). The deletion of a chromosome
from the normal chromosome
number 2N is Monosomy
(2N - 1).
NUMERICAL MUTATION
Aneuploidy is a condition where there is an
addition or deletion of one or more
chromosomes.

Trisomy and Monosomy in humans

can be disruptive to the extent that it
can kill the embryo. However,
aneuploidy in certain chromosome
pairs can result in the survival of an
offspring, but with severe
abnormalities or developmental
difficulties.
DOWN SYNDROME
Down syndrome can affect a person's cognitive
ability and physical growth, cause mild to
moderate developmental issues, and present a
higher risk of some health problems.

Trisomy 21 or Down Syndrome is a human

chromosome trisomy involving
nondisjunction of the 21st pair of
autosomes.
Characterizations:
• Short Stature
• Short and Broad Hands
• Mental Retardation
• Heart Problems
• Short Life Span
• Flattened Face
• Almond-shaped Eyes
• Short Neck
DOWN SYNDROME
Down syndrome can affect a person's cognitive
ability and physical growth, cause mild to
moderate developmental issues, and present a
higher risk of some health problems.

Maternal age or possibly paternal

age could be a contributing factor.
The frequency increases with age.
Women between 35 to 39 years of
age are seven times more likely to
have a child with Down Syndrome
than women aged 15 to 19.
However, the exact cause of
disjunction is still unknown.
PATAU SYNDROME
The extra 13th chromosome causes
severe mental and physical problems.
Unfortunately, most babies born with it don’t live
past their first month or year. But some can survive
for years.

Trisomy 13 or Patau Syndrome a

genetic disorder that a baby gets
when they have an extra 13th
chromosome. In other words, they
have three copies of their
chromosome 13 when they should
have just two. It happens when cells
divide abnormally during
reproduction, and create extra
genetic material on chromosome 13.
PATAU SYNDROME
The extra 13th chromosome causes
severe mental and physical problems.
Unfortunately, most babies born with it don’t
live past their first month or year. But some can
survive for years.

Characterizations:

• Cleft lip or palate

• Clenched hands
• Decreased muscle tone
• Extra fingers or toes
• Severe Mental Retardation
• Small head
• Malformed ears
• Hernias: Umbilical and Inguinal
STRUCTURAL MUTATION
Although cells have a variety of protective
repair systems to make DNA remarkably
stable molecule, DNA structures do change.

Structural Mutations are alterations that

affect whole chromosomes and whole
genes rather than just individual
nucleotides. These mutations result from
errors in cell division that cause a section
of a chromosome to break off, be
duplicated or move onto
another chromosome.
STRUCTURAL MUTATION
Ultimately, this leads to having too much or
too little genetic material. This is a cause of
some birth defects.

The total number of chromosomes is

typically 46 total per cell. Structural
chromosome abnormalities occur when
part of a chromosome is missing, a part
of a chromosome is extra, or a part has
switched places with another part.
TRANSLOCATION
Since translocation involves only a portion of
chromosomes, the effect may be less damaging
than what occurs in disjunction. In some
instances, translocation is associated with certain
phenotypic abnormalities.

Translocation is the transfer of

genetic material between two non-
homologous chromosomes. The
common form involves a single break
in each of the two chromosomes
and an exchange of the broken
pieces.
TRANSLOCATION
For example, the movement of a segment of
human chromosome 22 to chromosome 9 is
associated with a form of cancer called Myeloid
Leukemia.

Adult acute myeloid leukemia (AML) is

a type of cancer in which the bone
marrow makes abnormal myeloblasts (a
type of white blood cell), red blood
cells, or platelets. Adult acute myeloid
leukemia (AML) is a cancer of the blood
and bone marrow. This type of cancer
usually gets worse quickly if it is not
treated.
INVERSION
If two breaks occur in one chromosome,
sometimes the region between the breaks rotates
180 degrees before rejoining with the two end
fragments.

Inversion involves two breaks in a

chromosome, followed by the broken
ends reattaching in reverse order. Like
in translocation, the amount of DNA is
unchanged. However, the change in
arrangement of genes may result in
phenotypic changes that is usually not
damaging.
INVERSION
If two breaks occur in one chromosome,
sometimes the region between the breaks rotates
180 degrees before rejoining with the two end
fragments.

In a Paracentric Inversion, both breaks

occur in one arm of the chromosome,
whereas in a Pericentric Inversion, the
centromere is involved and each arm
has a break point.
EFFECTS:
• Partial male sterility
• Recessive mutation
• Gene inactivity
DELETION
The effects of deletion increase in severity
as the number of lost sections or genes
increases.

Usually caused by breaks in a

chromosome and a consequent
loss of one or more genes.
CRIDUCHAT
The effects of deletion increase in severity
as the number of lost sections or genes
increases.

An example of genetic effect due to

deletion is Cri-du-chat (French phrase for
“cry of a cat”) Syndrome. It results from
the loss of a segment of Chromosome 5.

Characterizations:
• Abnormally small head
• Widely spaced eyes
• Mental Retardation
• Monotone, weak cat-like cry.
DUPLICATION
Duplication occurs when portions of
chromosomes are present in multiple
copies. The effects are believed to be less
severe than deletion and are difficult to
detect in humans.

A part of a chromosome is duplicated,

or present in 2 copies. This results in
having extra genetic material, even
though the total number of
chromosomes is usually normal. These
“extra instructions” can lead to errors
in the development of a baby.
PALLISTER KILLIAN SYNDROME
One example of a rare genetic disorder of
duplication is called Pallister Killian
Syndrome, where part of the chromosome
12 is duplicated.

Characterizations:

• Very thin upper lip

• Short nose and thick lower lip
• “Coarse” facial features
• Prominent forehead
• Severe Intellectual Disability
• Poor muscle tone
• Stiff joints
• Hearing loss
• Heart defects
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