Mindanao State University

BALOI COMMUNITY HIGH SCHOOL

East Pob. Balo-i, Lanao del Norte
S.Y. 2020-2021

Science 10
Quarter 3 – Module 5
Mutation

Department of Education ● Republic of the Philippines

I. INSTRUCTION

To the teachers:
This module was collaboratively designed, developed and reviewed by educators from public schools to assist
you, teacher or facilitator, in helping the learners meet the standards set by the K to 12 Curriculum while
overcoming their personal, social, and economic constraints in schooling.

As a facilitator, you are expected to orient the learners on how to use this module. You also need to keep track
of the learners' progress while allowing them to manage their own learning for optimal development and
understanding. Furthermore, you are expected to encourage and assist the learners as they do the tasks
included in this module.

To the parents:
As vital partners in education, your support to your children’s learning at home is a great factor to ensure that
they will become successful in what they do. As parents, you are expected to monitor your children’s progress
while they are accomplishing the tasks in this module while at the same time, ensuring that they learn
independently.

The objectives set for this learning material will be certainly accomplished with your steadfast guidance and
support.

To the learners:
This learning resource hopes to engage you into guided and independent learning activities at your own pace
and time. This also aims to help you acquire the needed 21st century skills while taking into consideration your
needs and circumstances.

Furthermore, it is our objective that you will have fun while going through this material. Take charge of your
learning pace and in no time, you will successfully meet the targets and objectives set in this module which are
intended for your ultimate development as a learner and as a person.

Guidelines and Reminders

The following are some guidelines and reminders to remember when using this module:

1. Use this module with care. Do not put unnecessary mark/s on any part of the module. Use a separate sheet of
paper in answering the exercises.
2. Do not forget to answer the What I Know section before moving on to the next activities included in the module.
3. Read the instructions carefully before doing each task.
4. Observe honesty and integrity in doing the tasks and checking your answers.
5. Finish the task at hand before proceeding to the next.
6. Return this module to your teacher/facilitator once you are through with it.
 If you encounter any difficulty in answering the tasks found in this module, do not hesitate to consult your
teacher or facilitator. Always bear in mind that you are not alone.

We hope that through this material, you will experience meaningful learning and gain deep understanding
of the relevant competencies. You can do it!

LESSON 1:Gene Mutation

II. INTRODUCTION

As you have learned in the previous module, your DNA is a template from

which everything inside you is built. So, it’s incredibly important that nothing happens to your DNA code. But
sadly, our DNA is constantly at risk of mutation which happens due to a variety of factors.

III. CONCEPT

Mutation is a permanent change of the nucleotide sequence of the genome of an organism, virus, or
extrachromosomal DNA or other genetic elements. It results in damage to DNA that is not repaired or to RNA
genomes (typically caused by radiation or chemical mutagens), errors in the process of replication, or from the
insertion or deletion of segments of DNA by mobile genetic elements. (1)

If you take the analogy that the information in DNA is a series of sentences, mutations are mistakes in
spelling of words that make up those sentences. Sometimes, mutations are insignificant, like a misspelled word
whose meaning is still quite clear. Sometimes, mutations have stronger implications, like a sentence whose
meaning is completely changed.

These alterations can be caused by random mistakes in DNA replication or by environmental influences
such as UV rays and chemicals. Changes at the nucleotide level go on to influence the transcription and
translation from gene to protein expression. Changing even just one nitrogen base in a sequence can alter the
amino acid that is expressed by that DNA codon, which can lead to a completely different protein being
expressed. These mutations can be completely harmless, potentially fatal, or somewhere in between. (2)

The sequence of a gene can be altered in a number of ways. DNA mutations have varying effects on
health depending on where they occur and whether they alter the function of essential proteins. In the structure
of genes, mutation can be classified into Small-Scale and Large-Scale. In this lesson, we will discuss the
Small-scale mutation.

What is a Gene?
Genes are segments of DNA located on chromosomes. A gene mutation is defined as an alteration in
the sequence of nucleotides in DNA. This change can affect a single nucleotide pair or larger gene segments
of a chromosome. DNA consists of a polymer of nucleotides joined together. During protein synthesis, DNA
is transcribed into RNA and then translated to produce proteins. Altering nucleotide sequences most often
results in nonfunctioning proteins. Mutations cause changes in the genetic code that lead to genetic
variation and the potential to develop the disease. Gene mutations can be generally categorized into two types:
point mutations and base-pair insertions or deletions. (3)
Small-Scale Mutation
Small-scale mutations are types of gene mutations, such as those affecting a small gene in one or a few
nucleotides. There are 2 types of gene mutations: Point Mutation and Frame-Shift Mutation.

a. Point Mutation. A point mutation—the change of a single nitrogen base in a DNA sequence—is usually the
least harmful type of DNA mutation. Codons are a sequence of three nitrogen bases in a row that are "read"
by messenger RNA during transcription. That messenger RNA codon is then translated into an amino acid that
goes on to make a protein that will be expressed by the organism. Depending on the placement of a nitrogen
base in the codon, a point mutation may have no effect on the protein.

Figure 1. Illustration of point mutation where there is a change in the nitrogen base sequence.

Since there are only 20 amino acids and a total of 64 possible combinations of codons, some amino
acids are coded for by more than one codon. Often, if the third nitrogen base in the codon is changed, the
amino acid won't be affected. This is called the wobble effect. If the point mutation occurs in the third nitrogen
base in a codon, then it has no effect on the amino acid or subsequent protein and the mutation does not
change the organism.

At most, a point mutation will cause a single amino acid in a protein to change. While this usually is not
a deadly mutation, it may cause issues with that protein's folding pattern and the tertiary and quaternary
structures of the protein.

One example of a point mutation that is not harmless is the incurable blood disorder sickle cell anemia.
This happens when a point mutation causes a single nitrogen base in a codon for one amino acid in the protein
glutamic acid to code for the amino acid valine instead. This single small change causes a normally round red
blood cell to instead be sickle-shaped. (2)

There are three major types of point mutations which occurs by Substitution: silent mutation,
missense mutation and nonsense mutation.
 Figure 2. Illustration of silent, missense and nonsense mutation.

Silent Mutations: These are type of change that does not alter the sequence of a protein because of
the redundancy of the genetic code (the new triplet codes for the same amino acid as the original triplet), or
because it affects an area not coding DNA or an intron. But this change can still have serious consequences
on the phenotype. Indeed, the change of a single nucleotide can change the splice donor site, without
changing the amino acid sequence. This may, therefore, result in a deletion of an entire exon of the peptide
sequence, the exon is not recognized because the splice site has been mutated. A synonymous mutation
means a silent mutation that affects exon, without changing the protein sequence. (2)

Missense Mutations: This point mutation results in the replacement of one nucleotide by another. In
some cases, this change causes a change in the amino acid encoded, which may or may not have an impact
on the function of the protein produced by the gene in the case of a gene encoding, or the affinity for a
transcription factor, in the case of a promoter region of the DNA. We speak of mutation transition when there is
a substitution of a purine base to another base purine (or pyrimidine base to another pyrimidine base). In
contrast, a mutation transversion is a mutation caused by the replacement of a purine by a pyrimidine base (or
pyrimidine base by a purine base). (2)

Nonsense Mutation: Change of a nucleotide causes the replacement of a codon specifying an amino
acid by a stop codon. This results in the production of a truncated protein. (2)

b. Frame-Shift Mutation

Frameshift Mutations are generally much more serious and often more deadly than point mutations.
Even though only a single nitrogen base is affected, as with point mutations, in this instance, the single base is
either completely deleted or an extra one is inserted into the middle of the DNA sequence. This change in
sequence causes the reading frame to shift—hence the name "frameshift" mutation. A reading frame shift
changes the three-letter codon sequence for messenger RNA to transcribe and translate. That not only
changes the original amino acid but all subsequent amino acids as well. This significantly alters the protein and
can cause severe problems, even possibly leading to death. Frame-shift mutations occur by Insertion and
Deletion. (1)
 Figure 3. Frame shift mutation – Insertion.

Insertions add one or more extra nucleotides into the DNA. They are usually caused by transposable
elements, or errors during the replication of repeating elements (e.g., AT repeats). Insertions in the coding
region of a gene may alter splicing of the mRNA (splice site mutation), or cause a shift in the reading frame
(frameshift mutation), both of which can significantly alter the gene product. Insertions can be reversed by the
excision of the transposable element. (2)

Figure 4. Frame shift mutation – Deletion.

Deletions mean removing one or more nucleotides from the DNA. Like insertions, these mutations can
alter the reading frame of the gene. In general, they are irreversible: Though exactly the same sequence might,
in theory, be restored by an insertion, transposable elements able to revert a very short deletion (say 1–2
bases) in any location either are highly unlikely to exist or do not exist at all. (2)

DNA Mutation Analogy

Much like reading text, the DNA sequence is "read" by messenger RNA to produce a "story" or an
amino acid chain that will be used to make a protein. Since each codon is three letters long, let's see what
happens when a "mutation" occurs in a sentence that uses only three-letter words.
 THE RED CAT ATE THE RAT.

If there was a point mutation (substitution), the sentence would change to:

THC RED CAT ATE THE RAT.

The "E" in the word "the" mutated into the letter "C". While the first word in the sentence is no longer
the same, the rest of the words still make sense and remain what they're supposed to be.

If an insertion were to mutate the above sentence, then it might read:

THE CRE DCA TAT ETH ERA T.

The insertion of the letter "C" after the word "the" completely changes the rest of the sentence. The
second word no longer makes sense, nor do any words that follow it. The entire sentence has changed into
nonsense.

A deletion would do something similar to the sentence:

THE EDC ATA TET HER AT.

In the example above, the "R" that should have come after the word "THE" has been deleted. Again, it
changes the entire sentence. While some of the subsequent words remain intelligible, the meaning of the
sentence has completely changed. This demonstrates that even when codons are changed into something that
isn't total nonsense, it still completely changes the protein into something that is no longer functionally viable.
(2)
 Mindanao State University
BALOI COMMUNITY HIGH SCHOOL
East Pob. Balo-i, Lanao del Norte
S.Y. 2020-2021
SCIENCE 10
3RD Quarter
WORKSHEET

Name:_______________________________________________Grade & Sec:_____________________Score:_______

MODULE 5-Lesson 1

Choose the letter of the best answer and encircle it.

1. Frameshift Mutations are generally much more serious and often more deadly than point mutations.
A. True
B. False
C. Depends upon the condition of the DNA
D. It is much more serious but not deadly
2. Frameshift mutations are the result of what occurrence?
A. Insertions or deletions that are not a multiple of three.
B. A mutation that changes an amino acid codon to a stop codon
C. A mutation that changes one amino acid to another.
D. A nucleotide-pair substitution
3. A DNA strand that originally reads 5’-GATATC-3’ undergoes a mutation that changes it to 5’- GATCATC-3’.
This is an example of what type of mutation?
A. Insertion B. Point mutation
C. Nonsense mutation D. Deletion
4. What type of point mutation results in a frameshift mutation?
A. Substitution B. Insertion
C. Deletion D. Both B and C
5. Which is NOT a type of substitution mutation?
A. Missense B. Conservation
C. Nonsense D. Silent
6. Which is an example of a stop codon in RNA?
A. UAG B. UAA
C. UGA D. All of the above
7. Which type of mutations can result in a frameshift?
A. Nonsense and missense B. Nonsense and insertions
C. Insertions and deletions D. Missense and deletions
8. Which type of mutation does NOT change the overall function of the protein?
A. Missense B. Nonsense
C. Insertion D. Silent
9. Which type of mutation results in the replacement of one nucleotide by another?
A. Missense B. Nonsense
C. Insertion D. Silent
10. Which of the following is not an example of a point mutation?
A. Silent mutation B. Nonsense mutation
C. Missense mutation D. Frameshift mutation
LESSON 2 Chromosomal Mutation
This lesson will help you understand the second classification of mutation which is the Chromosomal
Mutation. In this lesson, you are expected to explain chromosomal mutation.

As you go through this lesson, you will learn more about mutation. Generally, mutations are changes in the
genetic information in the genome of a cell or even a virus. Mutations are changes in the DNA sequence of the
DNA or RNA sequence for viruses. Mutation is one of the main causes of the species evolution and is the main
mechanisms of molecular evolution.

Mutation is a permanent change of the nucleotide sequence of the genome of an organism, virus, or
extrachromosomal DNA or other genetic elements. It results in damage to DNA that is not repaired or to RNA
genomes (typically caused by radiation or chemical mutagens), errors in the process of replication, or from the
insertion or deletion of segments of DNA by mobile genetic elements. (1)

If you take the analogy that the information in DNA is a series of sentences, mutations are mistakes in
spelling of words that make up those sentences. Sometimes, mutations are insignificant, like a misspelled word
whose meaning is still quite clear. Sometimes, mutations have stronger implications, like a sentence whose
meaning is completely changed.

These alterations can be caused by random mistakes in DNA replication or by environmental influences
such as UV rays and chemicals. Changes at the nucleotide level go on to influence the transcription and
translation from gene to protein expression. Changing even just one nitrogen base in a sequence can alter the
amino acid that is expressed by that DNA codon, which can lead to a completely different protein being
expressed. These mutations can be completely harmless, potentially fatal, or somewhere in between. (2)

Chromosomes are long, stringy aggregates
formed from chromatin, a mass of genetic
around proteins called histones. Chromosomes are
the process of cell division. A non-duplicated
a centromere region that connects two arm regions.
region is called the q arm.
of genes that carry heredity information (DNA). They are
material consisting of DNA that is tightly coiled
located in the nucleus of our cells and condense prior to
chromosome is single-stranded and is comprised of
The short arm region is called the p arm and the long arm

In preparation for the division of the nucleus, chromosomes must be duplicated to ensure that the
resulting daughter cells end up with the appropriate number of chromosomes. An identical copy of each
chromosome is therefore produced through DNA replication. Each duplicated chromosome is comprised of two
identical chromosomes called sister chromatids that are connected at the centromere region. Sister chromatids
separate prior to the completion of cell division.

A chromosome mutation is an unpredictable change that occurs in a chromosome. These changes are
most often brought on by problems that occur during meiosis (division process of gametes) or by mutagens
(chemicals, radiation, etc.). Chromosome mutations can result in changes in the number of chromosomes in
a cell or changes in the structure of a chromosome. Unlike a gene mutation which alters a single gene or larger
segment of DNA on a chromosome, chromosome mutations change and impact the entire chromosome. (4)

What Causes Chromosomal Mutation?

Duplications and breakages of chromosomes are responsible for a type of chromosome mutation that
alters chromosome structure. These changes affect protein production by changing the genes on the
chromosome. Chromosome structure changes are often harmful to an individual leading to developmental
difficulties and even death. Some changes are not as harmful and may have no significant effect on an
individual. There are several types of chromosome structure changes that can occur. Some of them include:
(4)

a. Translocation

The joining of a fragmented chromosome to a non-homologous chromosome is a translocation. The

piece of chromosome detaches from one chromosome and moves to a new position on another chromosome.

b. Deletion

This mutation results from the breakage of a chromosome in which the genetic material becomes lost
during cell division. The genetic material can break off from anywhere on the chromosome.

c. Duplication

Duplications are produced when extra copies of genes are generated on a chromosome.

d. Inversion

In an inversion, the broken chromosome segment is reversed and inserted back into the chromosome.
If the inversion encompasses the centromere of the chromosome, it is called a pericentric inversion. If it
involves the long or short arm of the chromosome and does not include the centromere, it is called a
paracentric inversion.

e. Isochromosome

This type of chromosome is produced by the improper division of the centromere. Isochromosomes contain
either two short arms or two long arms. A typical chromosome contains one short arm and one long arm. (4)

Figure 5. Types of chromosomal structure changes.

Types of Chromosomal Mutation

A chromosome mutation that causes individuals to have an abnormal number of chromosomes is
termed aneuploidy. Aneuploid cells occur as a result of chromosome breakage or nondisjunction errors that
happen during meiosis or mitosis. Nondisjunction is the failure of homologous chromosomes to separate
properly during cell division. It produces individuals with either extra or missing chromosomes. Sex
chromosome abnormalities that result from nondisjunction can lead to conditions such as Klinefelter and
Turner syndromes. In Klinefelter syndrome, males have one or more extra X sex chromosomes. In Turner
syndrome, females have only one X sex chromosome. Down syndrome is an example of a condition that
occurs due to nondisjunction in autosomal (non-sex) cells. Individuals with Down syndrome have an extra
chromosome on autosomal chromosome 21.

A chromosome mutation that results in individuals with more than one haploid set of chromosomes in a cell is
termed polyploidy. A haploid cell is a cell that contains one complete set of chromosomes. Our sex cells are
considered haploid and contain 1 complete set of 23 chromosomes. Our autosomal cells are diploid and
contain 2 complete sets of 23 chromosomes. If a mutation causes a cell to have three haploid sets, it is called
triploidy. If the cell has four haploid sets, it is called tetraploidy. (4)
 Mindanao State University
BALOI COMMUNITY HIGH SCHOOL
East Pob. Balo-i, Lanao del Norte
S.Y. 2020-2021
SCIENCE 10
3RD Quarter
WORKSHEET

Name:_______________________________________________Grade & Sec:_____________________Score:_______

MODULE 5-Lesson 2

Choose the letter of the best answer and encircle it.

1. The technique known as karyotyping is used to detect abnormalities in what?
A. Blood and Urine B. Ribosomes
C. Chromosomes D. Amniotic Fluid
2. One possible result of chromosomal breakage can be that a fragment reattaches to the original chromosome
in a reverse orientation. This is called:
A. Deletion B. Inversion
C. Disjunction D. Translocation
3. When a segment of a chromosome has been copied, it is a result of:
A. Deletion B. Inversion
C. Duplication D. Translocation
4. What results when there is an error in the DNA base sequence?
A. Deletion B. Inversion
C. Chromosomal Mutation D. Gene Mutation
5. What results when there is an error during meiosis?
A. Disjunction B. Translocation
C. Chromosomal Mutation D. Gene Mutation
6. Identify the mutation in the illustration below:

A. Inversion B. Deletion
C. Duplication D. Translocation
7. During the process of meiosis, part of one chromosome detaches and reattaches to a different chromosome
in the parent cell of an individual. Which of the following is true regarding this mutation?
A. The mutation could get passed on to the individual’s offspring.
B. The mutation could cause cancer in the individual.
C. The mutation could affect the protein production of cells in the body.
D. The mutation will affect only the somatic cells in the body.
8. Which of the following identifies the type of chromosomal mutation that has occurred on chromosome 18?

A. Inversion B. Translocation
C. Duplication D. Deletion
9. Which of these is the correct order for the chromosome mutation in the image from top to bottom?

A. Duplication-Inversion-Substitution-Translocation
B. Deletion-Duplication-Inversion-Translocation
C. Deletion-Insertion-Translocation-Inversion
D. Substitution-Duplication-Translocation-Inversion
10. What type of chromosomal mutation has occurred?

A. Substitution B. Insertion
C. Deletion D. Non-disjunction
LESSON 3: Diseases and Abnormalities Caused by Mutation
Gene mutations are most commonly caused as a result of two types of occurrences. Environmental factors
such as chemicals, radiation, and ultraviolet light from the sun can cause mutations. These mutagens alter
DNA by changing nucleotide bases and can even change the shape of DNA. These changes result in errors in
DNA replication and transcription.
Other mutations are caused by errors made during mitosis and meiosis. Common errors that occur
during cell division can result in point mutations and frameshift mutations. Mutations during cell division can
lead to replication errors which can result in the deletion of genes, translocation of portions of chromosomes,
missing chromosomes, and extra copies of chromosomes. (3)

Genetic Disorders
According to the National Human Genome Institute, almost all disease has some sort of genetic factor.
These disorders can be caused by a mutation in a single gene, multiple gene mutations, combined gene
mutation, and environmental factors, or by chromosome mutation or damage. Gene mutations have been
identified as the cause of several disorders including sickle cell anemia, cystic fibrosis, Tay-Sachs disease,
Huntington disease, hemophilia, and some cancers. (4)
a. Sickle Cell Anemia
Sickle cell anemia is a genetic disease common among those who are from Africa. This genetic disease
is the result of a point mutation where there is a change in just one nucleotide in the gene for hemoglobin. The
mutation causes the hemoglobin in red blood cells to transform to a sickle shape when de-oxygenated. Since
the shape is altered, it cuts of blood circulation and clogs the capillaries.

Figure 6. Difference between a sickle cell and a normal red blood cell. (6)
Two copies of the mutated genes cause sickle cell anemia, while having just one copy does not. One copy of it
in facts protects against malaria. This is an example of how mutations can sometimes be advantageous. (5)
b. Cystic Fibrosis
Cystic fibrosis (CF) is a progressive, genetic disease that affects the secretory glands, including the mucus and
sweat glands. Cystic fibrosis causes persistent lung infections and limits the ability to breathe over time.
 Figure 7. Difference between a normal airway and an airway with cystic fibrosis. (7)
There is no cure for CF but treatments have greatly improved in recent years. Medication, exercise, nutritional
and respiratory therapies are some of the treatment options. (5)
c. Tay-Sachs Disease
Tay-Sachs disease is a rare inherited disorder that causes progressive damage to the nervous system and
most commonly affects infants. It is mainly caused by the absence of a vital enzyme called hexosaminidase-A
(Hex-A). Symptoms usually appear between three to five months of age. The development slows down and
they gradually lose their ability to move. (5)
Tay-Sachs is a recessively inherited disease that only occurs when both parents carry a Tay-Sachs gene and
each parent transmits the defective gene to their child. A child who inherits two Tay-Sachs genes (one from
each parent) produces no functional Hex-A enzyme and is certain to develop Tay-Sachs disease. The Tay-
Sachs genes are located on chromosome 15. (8)

Figure 8. Inheritance of Tay-Sachs Disease.

d. Hemophilia
Hemophilia is an inherited bleeding disorder that causes abnormal or exaggerated bleeding and poor blood
clotting. Although it is passed down from parents to children, about 1/3 of cases are caused by a spontaneous
mutation, a change in a gene. The most common type of hemophilia is hemophilia A. Common symptoms
include excessive bleeding and easy bruising. (5)

Figure 9. Healthy blood vessel and hemophilic blood vessel. (9)

e. Down Syndrome
Down syndrome or trisomy 21 is the most common chromosomal disorder. People with Down syndrome
have 47 chromosomes in their cells instead of 46, and suffer from mild to moderate disabilities. Delayed
development and behavioral problems are often reported in children with down syndrome. Common physical
traits include a flat face, small head and short neck, and upward slanting eyes. (5)
There are three main types of Down syndrome: trisomy 21, mosaicism, and translocation. (10)
Trisomy 21 is the most common form of Down syndrome, accounting for about 95% of cases.^11start
superscript, 1, end superscript This type of Down syndrome is caused by uneven separation of chromosome
21 during the creation of sex cells (this can happen in either the sperm or the egg cell), which leads to a
fertilized egg with three copies of chromosome 21 instead of two. When the fertilized egg is developed, it
passes along the extra copy of chromosome 21 to every cell in the body.

Figure 10. Trisomy 21

The Mosaic form of Down syndrome is much less common, accounting for about 1% of cases. ^11start
superscript, 1, end superscript in this form, the uneven separation of chromosome 21 happens shortly after an
egg has been fertilized. The timing of this nondisjunction is important, because it leads to a person having
some cells with the typical 46 chromosomes, and some cells with 47 (these cells have an extra copy of
chromosome 21). Because only some cells have the extra chromosome, mosaic Down syndrome may have
less prominent symptoms than trisomy 21.
 Figure 11. Mosaicism
In the remaining 4% of cases of Down syndrome, the extra genetic material is passed on to new cells in a
slightly different way. Rather than failing to separate, Translocation occurs when a portion of chromosome 21
breaks off during the replication process, and then attaches to another chromosome.^11start superscript, 1,
end superscript So rather than getting a full extra chromosome, translocation results in cells with the typical 46
chromosome, plus a little extra chromosome 21. The genes contained in the extra portion of chromosome 21
can cause many of the symptoms of Down syndrome. (10)
Even though people with Down syndrome might act and look similar, each person has different abilities.
People with Down syndrome usually have an IQ (a measure of intelligence) in the mildly-to-moderately low
range and are slower to speak than other children. (13)
Some common physical features of Down syndrome include: (13)
1. A flattened face, especially the bridge of the nose
2. Almond-shaped eyes that slant up
3. A short neck
4. Small ears
5. A tongue that tends to stick out of the mouth
6. Tiny white spots on the iris (colored part) of the eye
7. Small hands and feet
8. A single line across the palm of the hand (palmar crease)
9. Small pinky fingers that sometimes curve toward the thumb
10. Poor muscle tone or loose joints
11. Shorter in height as children and adults

Down syndrome is a lifelong condition. Services early in life will often help babies and children with Down
syndrome to improve their physical and intellectual abilities. Most of these services focus on helping children
with Down syndrome develop to their full potential. These services include speech, occupational, and physical
therapy, and they are typically offered through early intervention programs in each state. Children with Down
syndrome may also need extra help or attention in school, although many children are included in regular
classes. (13)
f. Klinefelter Syndrome
Klinefelter syndrome also known as XXY condition is a chromosomal condition that affects male physical
and cognitive development. The most common symptom of Klinefelter syndrome is infertility. Some common
symptoms include small penis, small firm testes, less pubic, armpit and facial hair, enlarged breasts, tall stature
and abnormal body proportions. (5)

Figure 12. Chromosomes of Klinefelter Syndrome. (11)

Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and
intellectual development. Most commonly, affected individuals are taller than average is unable to father
biological children (infertile); however, the signs and symptoms of Klinefelter syndrome vary among boys and
men with this condition. In some cases, the features of the condition are so mild that the condition is not
diagnosed until puberty or adulthood, and researchers believe that up to 75 percent of affected men and boys
are never diagnosed. (11)
g. Prader Willi Syndrome
Prader-Willi syndrome (PWS) is a complex genetic disorder that affects growth, metabolism, appetite,
cognitive function, behavioral problems, low levels of sex hormones and a constant feeling of hunger. It is
caused by the loss of genes in a specific region of chromosome 15. There is no cure for PWS, growth
hormone, exercise, and dietary supervision can help build muscle mass and control weight. (5)
h. Turner Syndrome
Turner syndrome (TS) is a rare chromosomal ailment that impacts girls. It is associated with the x
chromosome that alters development in women, even though it isn't normally inherited in families. The most
consistent functions of TS are brief stature and lack of ovarian development. Most women with Turner
syndrome are infertile. (5)

Figure 13. Chromosomes in Turner’s Syndrome. (12)

i. Edward’s Syndrome
Edwards Syndrome (also known as Trisomy 18 (T18) or Trisomy E) is a genetic disorder caused by the
presence of all or part of an extra 18th chromosome. The majority of people with the syndrome die during the
fetal stage; infants who survive experience serious defects and commonly live for short periods of time.
Edwards' syndrome is associated with a broad spectrum of abnormalities which consist of greater than one-
hundred and thirty discrete defects involving the brain, heart, craniofacial structures, kidneys and stomach.
Edward's Syndrome is named after John H. Edwards, who first described the syndrome in 1960. (15)
j. “Cri Du Chat”
Cri du chat syndrome is a genetic condition present from birth that affects growth and development.
Infants with this condition often have a high-pitched cat-like cry, small head size, and a characteristic facial
appearance. They may have trouble breathing and feeding difficulties. People with this condition typically
have intellectual disability, developmental and speech delay, and behavioral issues. Cri du chat syndrome is
due to a missing piece (deletion) of a specific part of chromosome 5 known as the 'p' arm. In general, the
severity of the symptoms is determined by the size and location of the deletion on chromosome 5. This
deletion occurs very early in the development of embryo and cri du chat syndrome is usually not inherited in
families. Diagnosis is made based on the clinical examination, symptoms and genetic testing. Treatment is
based on the symptoms. (16)
k. Jacobsen Syndrome
 Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11.
Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen
syndrome is also known as 11q terminal deletion disorder.
The signs and symptoms of Jacobsen syndrome vary considerably. Most affected individuals have
delayed development, including the development of speech and motor skills (such as sitting, standing, and
walking). Most also have cognitive impairment and learning difficulties. Behavioral problems have been
reported, including compulsive behavior (such as shredding paper), a short attention span, and easy
distractibility. Many people with Jacobsen syndrome have been diagnosed with attention-deficit/hyperactivity
disorder (ADHD). Jacobsen syndrome is also associated with an increased likelihood of autism spectrum
disorders, which are characterized by impaired communication and socialization skills.
Jacobsen syndrome is also characterized by distinctive facial features. These include small and low-set
ears, widely set eyes (hypertelorism) with droopy eyelids (ptosis), skin folds covering the inner corner of the
eyes (epicanthal folds), a broad nasal bridge, downturned corners of the mouth, a thin upper lip, and a small
lower jaw. Affected individuals often have a large head size (macrocephaly) and a skull abnormality
called trigonocephaly, which gives the forehead a pointed appearance. (17)
l. Klinefelter’s Syndrome
Klinefelter syndrome is a genetic condition in which a boy is born with an extra X chromosome. Instead of
the typical XY chromosomes in men, they have XXY, so this condition is sometimes called XXY syndrome.
Men with Klinefelter usually don’t know they have it until they run into problems trying to have a child.
There’s no cure, but it can be treated.
You get the extra X chromosome by chance. Either the egg or the sperm that came together to create
you had an extra X chromosome. Older women have a slightly higher chance of having a boy with XXY
syndrome, but the chance is small. (18)
Men with Klinefelter may have:
a. An extra X chromosome in every cell, which is the most common
b. An extra X chromosome in only some cells, called mosaic Klinefelter, in which you don’t have
as many symptoms
c. More than one extra X chromosome, which is very rare and more severe

Karyotyping
Karyotyping is a laboratory procedure that allows your doctor to examine your set of chromosomes.
“Karyotype” also refers to the actual collection of chromosomes being examined. Examining chromosomes
through karyotyping allows your doctor to determine whether there are any abnormalities or structural
problems within the chromosomes.
Chromosomes are in almost every cell of your body. They contain the genetic material inherited from
your parents. They’re composed of DNA and determine the way every human develops.
When a cell divides, it needs to pass on a complete set of genetic instructions to each new cell it forms.
When a cell isn’t in the process of division, the chromosomes are arranged in a spread out, unorganized way.
During division, the chromosomes in these new cells line up in pairs.
A karyotype test examines these dividing cells. The pairs of chromosomes are arranged by their size
and appearance. This helps your doctor easily determine if any chromosomes are missing or damaged.
Why is the test useful?
 An unusual number of chromosomes, incorrectly arranged chromosomes, or malformed chromosomes
can all be signs of a genetic condition. Genetic conditions vary greatly, but two examples are Down
syndrome and Turner syndrome.
Karyotyping can be used to detect a variety of genetic disorders. For example, a woman who has
premature ovarian failure may have a chromosomal defect that karyotyping can pinpoint. The test is also useful
for identifying the Philadelphia chromosome. Having this chromosome can signal chronic myelogenous
leukemia (CML).
Babies can be karyotype tested before they’re born to diagnose genetic abnormalities that indicate
serious birth defects, such as Klinefelter syndrome. In Klinefelter syndrome, a boy is born with an extra X
chromosome.
What do test results mean?
A normal test result will show 46 chromosomes. Two of these 46 chromosomes are sex chromosomes,
which determine the sex of the person being tested, and 44 of them are autosomes. The autosomes are
unrelated to determining the sex of the person being tested. Females have two X chromosomes, while males
have one X chromosome and one Y chromosome.
Abnormalities that appear in a test sample could be the result of any number of genetic syndromes or
conditions. Sometimes, an abnormality will occur in the lab sample that’s not reflected in your body. The
karyotype test may be repeated to confirm that there’s an abnormality. (19)
 Mindanao State University
BALOI COMMUNITY HIGH SCHOOL
East Pob. Balo-i, Lanao del Norte
S.Y. 2020-2021
SCIENCE 10
3RD Quarter
WORKSHEET

Name:_______________________________________________Grade & Sec:_____________________Score:_______

MODULE 5-Lesson 3

Choose the letter of the best answer and encircle it.

1. A woman with one gene of hemophilia and one gene of color blindness on one of the X chromosomes
marries a normal man. How will the progeny be?
A. 50% hemophilic color-blind sons and 50% color blind daughters
B. 50% hemophilic and color-blind sons and 50% normal sons
C. All sons and daughters are hemophilic and color blind
D. Hemophilic and color-blind daughters
2. Which of the following is known as the Royal disease?
A. Alzheimer’s disease B. Sickle cell anemia
C. Hemophilia D. Color blindness
3. The most important example of point mutation is found in a disease called?
A. Thalassemia B. Down’s syndrome
C. Sickle cell anemia D. Night blindness
4. Patau’s syndrome occurs due to:
A. 13 Trisomy B. 18 Trisomy
C. 21 Trisomy D. 22 Trisomy
5. Identify a Mandelian disorder from the following:
A. Phenylketonuria B. Turner’s syndrome
C. Down’s syndrome D. Klinefelter’s syndrome
6. The syndrome in which individual somatic cell contains three sex chromosomes XXX is called:
A. Downs syndrome B. Klinefelter’s syndrome
C. Turner’s syndrome D. Super female
7. A man has enlarged breasts, spare head on body and sex complement as XXY. He suffers from:
A. Edward’s syndrome B. Turner’s syndrome
C. Down’s syndrome D. Klinefelter’s syndrome
8. In a man, which of the following genotypes and phenotypes may be the correct result of aneuploidy in sex
chromosomes?
A. 22 pairs + Y females B. 22 pairs + XX females
C. 22 pairs + XXY males D. 22 pairs + XXXY females
9. In a family, a father is having a disease and the mother is normal. The disease is inherited to only daughters
and not to the sons. What type of disease is this?
A. Autosomal recessive B. Autosomal dominant
C. Sex linked recessive D. Sex linked dominant
10. Down’s syndrome is characterized by.
A. 19 Trisomy B. 21 Trisomy
C. Only one X chromosome D. Two X and one Y chromosome