CHROMOSOMAL

STRUCTURAL
ABNORMALITIES
GROUP 1; BMLS 2-2
 OBJECTIVES:
Students must understand
what is ‘chromosomal
structural abnormalities’.
They should know how to
differentiate the various
chromosomal structural
abnormalities.

They must able to identify

the symptoms of the
They must know what are abnormalities.
the different chromosomal
structural abnormalities.

They must know how did

the abnormalities occur.
Agenda Style
INTRODUCTION
01 Introduction on chromosomal structural
abnormalities.

ABNORMALITIES
02 The different abnormalities.

OCCURANCE
03 How did the abnormalities occur.

VISUAL PRESENTATION
04 Visual presentation of the people who
actually had the abnormality.
Introduction
Chromosomal Structural Abnormalities
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What is a
“Chromosomal
Structural
Abnormality”?
Structural Abnormalities
Changes that affect the structure of a chromosome.

T
hese changes can affect many genes along
the chromosome.

Occurance: During formation of egg or sperm cell

• Depend upon • Parents may have a “ • Unbalanced

their size and balanced chromosomal structural
location. rearrangements“ abnormalities
• Translocation , ring cause both
chromosomes, physical and
inversions can present mental
as balanced problems
arrangements where the
person is phenotypically
normal.
 Deletions
Occurs when a chromosome breaks and some genetic material is
lost. Deletions can be large or small and can occur anywhere
along a chromosome.

Deletion
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 Deletion
• The effects are typically severe since there is a loss of genetic material.
• De novo (dn): genetic term.
• Caused by a mistake occurs when the parents’ sperm or egg cells are formed.

Deletion
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Types:
1. Interstitial deletion – 2 breakages and
middle part is lost.
2. Terminal deletion – 1 breakage
resulting in the loss of the end of a
chromosome
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DELETION 16q SYNDROME

How did it happen?

Complications
Facial Features
Treatment
Symptoms
Duration
Prognosis
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DELETION 16q SYNDROME

Features (16q deletions):

 Developmental delay
 Intellectual disability
 Behavioral problems
Medical concerns:  Distinctive facial features
 Hearing
 Visions Other concerns:
 Cleft  Delayed speech and communication
 Infections:  Delayed gross motor and fine skills
 Chest infections: asthma  Needs physiotherapy and support
 Heart
 Brain
 Kidney
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CRI DU CHAT SYNDROME

How did it happen?

Complications
Facial Features
Treatment
Symptoms
Duration
Prognosis
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CRI DU CHAT SYNDROME

Clinical symptoms :
 high-pitched cat-like cry
 mental retardation
 delayed development
 distinctive facial features
 small head size
 widely-spaced eyes
 low birth weight and weak muscle tone in infancy
 The cat-like cry typically becomes less
apparent with time.

Cause: unknown.
Not hereditary.
No specific treatment is available for this syndrome.
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DELETION 7q KARYOTYPE:
WILLIAMS SYNDROME

How did it happen?

Complications
Facial Features
Treatment
Symptoms
Duration
Prognosis
 DELETION 7q KARYOTYPE:
WILLIAMS SYNDROME

Facial features:
 Puffy eyes
 Short nose with broad nasal tip
 small chin
 Wide mouth
 Prominent lips
 Full cheeks
 Blue yes with starry pattern

There is no cure for Williams syndrome.

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 Duplication
Occurs when part of a chromosome is copied (duplicated ) and present in two copies.
This type of chromosomal change results in extra copies of genetic material from the
duplicated segment. These extra genes present on the duplicated segment do not
function properly.

Duplication
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TETRASOMY 12P:PALLISTER
KILLIAN SYNDROME

How did it happen?

Complications
Facial Features
Treatment
Symptoms
Duration
Prognosis
 Ring Chromosome
The chromosome breaks in two places and the ends join to form a
ring structure. In many cases , the genetic material near the ends of
the chromosome is lost.

Ring Chromosome
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RING CHROMOSOME 14
SYNDROME

How did it happen?

Complications
Facial Features
Treatment
Symptoms
Duration
Prognosis
 RING CHROMOSOME 14
SYNDROME
Facial features and Characteristics:
 Small head
 Puffy hands and/or feet caused by a buildup of
fluid (lymphedema)
 Characterized by seizures and intellectual
disability. Recurrent seizures (epilepsy) develop
in infancy or early childhood.
 Intellectual disability or learning problems.
 Development may be delayed
 speech and of motor skills such as sitting,
standing, and walking.
 Include slow growth and short stature
 Problems with their immune system that lead to
recurrent infections.
 respiratory system.
 Iso-chromosomes
• Is a chromosome with two identical arms.
Instead of one long arm ( q ) and one
short arm ( p ) , an isochromosome has
two long or two short arms thereby having
extra copy and missing copy of other
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 INVERSION

Occur when there

are two breaks
within a single
chromosome and
the broken
segment flips 180
degrees (inverts).
 2 types of inversion:
1. Pericentric – breaks had 2. Paracentric – both breaks
occurred in both long and occurred in long arm and
short arms and the the centromere is not
centromere would be involved
inverted as well.
INVERSION
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• In this case a segment in the q, or long arm of the right chromosome 10 is inverted.
• The karyotype is written as: 46, XY,inv(10)(q11.23q26.3). The key to the karyotype description
is as follows:

Add Contents Title

46: the total number of
chromosomes

XY: the sex chromosomes

(male).
INVERSION 10 Add Contents Title

inv(10): inversion in
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chromosome 10

q11.23q26.3): breakpoints Add Contents Title

of the inverted segment.
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Inversion 3
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can
cause
OVARIAN CANCER

• When this process begins, there

may be no or only vague symptom.
The effect of having Inv Symptoms become more noticeable
3(q24q27) can cause as the cancer progresses.
ovarian carcinoma or • These symptoms may include
bloating, pelvic pain, abdominal
Ovarian cancer. swelling, and loss of appetite,
among others.
A cancer that forms in or on an ovary. It • Common areas to which the cancer
results in abnormal cells that have the ability may spread include the lining of the
to invade or spread to other parts of the abdomen, lymph nodes, lungs, and
body. liver.
 Translocation
A portion of one chromosome is transferred to another.

Translocation
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Translocation
If a segment of DNA breaks off and attaches onto a non-homologous
chromosomes 01
Reciprocal
Translocation:
Segments from two different
chromosomes have been
exchanged and its number remains
46.
05

02 Robertsonian
Translocation:
An entire chromosome has attached to
another at the centromere. The
chromosome number is 45, but no loss
of genetic material hence balanced.
• During a Robertsonian translocation, the
participating chromosomes break at their
centromeres and the long arms(q arm)fuse to form a
single chromosome with a single centromere.
• The short arms(p arm) also join to form a reciprocal
product, which typically contains nonessential genes
and is usually lost within a few cells
 ROBERTSONIAN
TRANSLOCATION
• A trisomy is a genetic alteration in which there is an extra
copy of a chromosome in a DNA strand, throwing the chain
off balance. A Robertsonian translocation can result in
trisomy 14 or trisomy 21. Trisomy 21 is also known as
Down syndrome. If your Robertsonian translocation fuses
another chromosome with chromosome 21, you may be
genetically more predisposed to have a baby with Down
syndrome.
• Patau syndrome is a result of an extra copy of
chromosome 13 in a developing fetus’s DNA. If your
Robertsonian translocation fuses chromosome 13 with
another chromosome, you may be a carrier for Patau
syndrome. Most cases of this trisomy aren’t inherited, but
it’s possible. In about 20 percent of cases of Patau
syndrome, a translocation plays a part in the syndrome’s
appearance.
• https://www.youtube.com/watch?v=vbGw4VanNjk
References: • Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and
Health Professionals.
•  NHGRI. 2006. 2006-09-25 at the Rieger, R.; Michaelis, A.; Green, M.M.
(1968). 
• A glossary of genetics and cytogenetics: Classical and molecular. New
York: Springer-Verlag. ISBN 9780387076683.
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Group 1
BMLS 2-2
DACUMOS, ALEXANDER
NOBLE, TREYZER
VALDEZ, ZEN
AGUDA, FLORA
DASALLA, VANESSA
ESTRELLA, HANNAH
SOMERA, DANICA
Thank You!
Any questions?