Disorders and

diseases that result

from the malfunction
of the cell during the
cell cycle
I. OBJECTIVES
• Define chromosomal abnormalities and its
type
• Identify disorders and diseases that result
from the malfunction of the cell during the
cell cycle
• Understand why disorders and diseases
happen during cell division
PRE-TEST
• DIRECTIONS: Read each item carefully and
choose the letter of the correct answer.

1. A cell cycle is a series of events that takes

place in a cell as it grows and divides. A cell
spends most of its time in what is called
interphase, and during this time it grows,
replicates its chromosomes, and prepares
for cell division. Which of the following is
an abnormal process of a cell cycle?
A. Chromosome pairs will separate
properly during meiosis stage 1 or stage
B. Chemical signals start and stop the cell
cycle and Cells communicate with each
other, so they don‟t become overcrowded.
C. Mutations occur in the DNA when it is
replicated.
D. If there are errors detected in the
checkpoints of cell cycle, apoptosis occurs.
2. Chromosomal abnormalities are disorder
resulting from non-disjunction of
homologous chromosomes. Which of the
following statement refers to
nondisjunction?
A. the normal separation of chromosomes
in meiosis I or sister chromatids in meiosis
II.
B. the abnormal separation of
chromosomes in meiosis I or sister
chromatids in meiosis II.
C. the normal separation of chromosomes
in mitosis I or sister chromatids in mitosis
II.
D. the abnormal separation of
chromosomes in mitosis I or sister
chromatids in mitosis II.

3. Abnormalities may be revealed through

chromosome analysis. Which of the
following is an example of trisomy
disorder?
 A. Down Syndrome C. Patau Syndrome
B. Edward Syndrome D. All of the Above

4. Aneuploidy is a condition where in there is an

extra or missing chromosome and it is a
common cause of genetic disorders (birth
defects). Which of the following is a condition
where in there is an absence of one of the
chromosomes?
A. Trisomy C. Deletions
B. Monosomy D. Translocations
5. Turner Syndrome is a type of
chromosomal abnormality namely

A. Deletion
B. Monosomy
C. Translocation
D. Trisomy
ANSWERS:
1. C
2. B
3. D
4. B
5. B
Remember that the normal
separation of chromosomes
in meiosis I or sister
chromatids in meiosis II is
termed as disjunction. Do you
know that there is a term
non-disjunction?
• NON-DISJUNCTION
- is the abnormal separation of
chromosomes in meiosis I or
sister chromatids in meiosis II
WHAT DO YOU THINK
WILL HAPPEN IF
MITOSIS GOES
WRONG?
• Once there is an Addition, Deletion,
Translocation, and Non-disjunction of
a piece or a whole chromosome,
chromosomal mutation occurs. And it
is a chromosomal abnormality. And
once mitosis is not controlled
unlimited cell division will occur that
will result to a disorder or disease.
KARYOTYPE
• 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.
The karyotype is used to look for
abnormal numbers or structures
of chromosomes.
Here is a picture of the chromosomes from a human cell
arranged in pairs by size. It is called a “KARYOTYPE”.
• It is called a “KARYOTYPE”. The
first 22 pairs are called
“autosomes” and the last pair
are the “sex chromosomes”.
Since the last pair is XY, the sex of
this sample karyotype is male. If
it is female the last pair should
be “XX”.
Activity 1. Identifying Errors in
Meiosis (Normal or Abnormal)
Normal Karyotype
Abnormal Karyotype
Abnormal Karyotype
ERRORS IN MEIOSIS
• Since you already know the appearance of
a normal karyotype, you can surely assess
and distinguish a normal karyotype from a
karyotype with errors. And you can surely
pinpoint in which chromosomes has the
abnormality.
CHROMOSOMAL ABNORMALITIES
• Chromosomal abnormalities, alterations and
aberrations are at the root of many inherited
diseases and traits. Chromosomal abnormalities
often give rise to birth defects and congenital
conditions that may develop during an
individual's lifetime. Examining the karyotype of
chromosomes (karyotyping) in a sample of cells
can allow detection of a chromosomal
abnormality and counseling can then be offered
to parents or families whose offspring are at risk
of growing up with a genetic disorder.
TYPES OF CHROMOSOMAL
ABNORMALITIES
• Trisomies and monosomies are two types
of chromosomal abnormalities
• Specifically, a trisomy is when a person has
three of a particular chromosome, instead
of the usual two.
- KLINEFELTER SYNDROME- a male with
two X`s and one Y
TYPES OF CHROMOSOMAL
ABNORMALITIES
• A monosomy is when they just have one
chromosome instead of the usual two.
• example
• TURNER SYNDROME- a female with only
one X
TURNER SYNDROME
• Turner's Syndrome is a common congenital
disorder caused by a missing X chromosome
that presents with scoliosis, short stature,
webbed neck, amenorrhea, cardiovascular
abnormalities, and osteoporosis.
• Diagnosis is made with chromosomal testing
showing a 45 XO genotype.
• Treatment involves a multidisciplinary approach
to address orthopedic manifestations,
cardiovascular abnormalities, and genitourinary
anomalies
TRISOMY
• Means the affected person has three
copies of one of the chromosomes instead
of two.
• Children affected by trisomy usually have a
range of birth anomalies, including
delayed development and intellectual
disabilities.
DOWN SYNDROME
• Trisomy 21 is the most common chromosomal
anomaly in humans
• Also known as Down syndrome, trisomy 21 is a
genetic condition caused by an extra
chromosome. Most babies inherit 23
chromosomes from each parent, for a total of 46
chromosomes. Babies with Down syndrome
however, end up with three chromosomes at
position 21, instead of the usual pair.
DOWN SYNDROME
EDWARD SYNDROME
• A baby with Edwards' syndrome has 3
copies of chromosome number 18
instead of 2. This affects the way the
baby grows and develops. Having 3
copies of chromosome 18 usually
happens by chance, because of a
change in the sperm or egg before a
baby is conceived.
EDWARD SYNDROME
PATAU SYDROME
• Patau's 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
• Most cases of trisomy 13 result from
having three copies of chromosome
13 in each cell in the body instead of
the usual two copies..
PATAU SYNDROME
Klinefelter Syndrome
• Klinefelter syndrome (sometimes called
Klinefelter's, KS or XXY) is where boys and men
are born with an extra X chromosome.
• Usually, a female baby has 2 X chromosomes
(XX) and a male has 1 X and 1 Y (XY). But in
Klinefelter syndrome, a boy is born with an extra
copy of the X chromosome (XXY).
• Boys and men with Klinefelter syndrome are still
genetically male, and often will not realise they
have this extra chromosome, but occasionally it
can cause problems that may require treatment.
Klinefelter syndrome
MONOSOMY
• The term "monosomy" is used to
describe the absence of one member
of a pair of chromosomes. Therefore,
there are 45 chromosomes in each
cell of the body instead of the usual
46.
TURNER SYNDROME
• Turner syndrome, a condition that
affects only females, results when one
of the X chromosomes (sex
chromosomes) is missing or partially
missing. Turner syndrome can cause a
variety of medical and developmental
problems, including short height,
failure of the ovaries to develop and
heart defects.
Deletions
• These are missing pieces of
chromosomes and/or genetic
material. Some may be small and
difficult to be detected.

Disorder:
CRI DU CHAT
Disorder:
CRI DU CHAT
• Cri-du-chat (cat's cry) syndrome, also known
as 5p- (5p minus) syndrome, is a
chromosomal condition that results when a
piece of chromosome 5 is missing . Infants
with this condition often have a high-
pitched cry that sounds like that of a cat.
• The disorder is characterized by intellectual
disability and delayed development, small
head size, low birth weight
Cri du Chat
TRANSLOCATION
• with these, pieces of chromosomes
break off and reattach to another
chromosome. If it is a one-to-one
switch and all the genetic material is
present (but in the wrong place), it is
said to be a balanced translocation. If
it is not, then it is called an
unbalanced translocation.
ROBERTSONIAN TRANSLOCATION
• Robertsonian translocation is the
most common form of chromosomal
translocation in humans. It means
that two chromosomes, the
structures that make up a person’s
DNA, join together in an abnormal
way.
ROBERTSONIAN TRANSLOCATION
Errors in Meiosis
• Those chromosomal abnormalities you
just discovered are errors in meiosis.
Those are disorder resulting from non-
disjunction of homologous chromosomes.
The result of this error is a cell with an
imbalance of chromosomes. Such a cell is
said to be “aneuploid”. Aneuploidy, an
extra or missing chromosome is a common
cause of genetic disorders (birth defects).
Some examples of abnormalities that
chromosome analysis may reveal are:
• 1. Trisomy - the presence of an extra chromosome, a
third instead of a pair.
• 2. Monosomy - the absence of one of the chromosomes.
• 3. Deletions -These are missing pieces of chromosomes
and/or genetic material. Some may be small and difficult
to be detected.
• 4. Translocations -with these, pieces of chromosomes
break off and reattach to another chromosome. If it is a
one-to-one switch and all the genetic material is present
(but in the wrong place), it is said to be a balanced
translocation. If it is not, then it is called an unbalanced
translocation.
BLOCK MUTATIONS
• Block mutations are changes to
segments of a chromosome, leading to
large scale changes to the DNA of an
organism
• Block mutations are commonly caused
by transposons, which, by changing
positions within the genome, alter gene
sequence
Several types of block mutations
exist, including:
• Duplications – part of chromosome is copied,
resulting in duplicate sections (potentially
increases gene expression)
• Deletions – a portion of the chromosome is
removed (along with any genes contained within
this segment)
• Inversions – a segment of a chromosome is
removed and then replaced within the
chromosome in reverse order
• Translocations – segments of two chromosomes
are exchanged (may interrupt gene sequences)
QUIZ
1. It is the abnormal separation of
chromosomes in meiosis I or sister
chromatids in meiosis II.
a. Disjunction
b. Non-Disjunction
c. Chromosome
d. Karyotype
2. It is the normal separation o
chromosomes in meiosis I or sister
chromatids in meiosis II.
a. Disjunction
b. Non-Disjunction
c. Chromosome
d. Karyotype
3. These are the results after non-
disjunction happen during meiosis
process.
a. Karyotypes
b. Diseases and Disorders
c. Deletion
d. Translocation
4. It is an individual’s collection of
chromosomes.
a. Chromosome
b. Syndrome
c. Karyotype
d. Trisomy
5. This is a type of chromosomal
abnormalities where they have one
chromosome instead of the usual two.
a. Trisomy
b. Down Syndrome
c. 1 Chromosome
d. Monosomy
6. This is also a type of chromosomal
abnormalities where they have three
chromosomes instead of the usual two.
a. Trisomy
b. Down Syndrome
c. 3 Chromosomes
d. Monosomy
7. Trisomy 21 is also called as
.
a. Edward Syndrome
b. Deletion
c. Down Syndrome
d. Patau Syndrome
8. It is chromosomal condition that
results when a piece of chromosome 5
is missing.
a. Cri du Chat
b. Turner Syndrome
c. Klineferter Syndrome
d. Edward Syndrome
9-10. Identify the Karyotypes if it is
Normal or Abnormal Karyotype.
9.
10.
Answers:
1. B
2. A
3. B
4. C
5. D
6. A
7. C
8. A
9. Abnormal
10.Normal