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Chromosomal Abnormalities Overview

An inversion is a type of chromosomal rearrangement where a segment of a chromosome is reversed end-to-end within the chromosome. There are two types of inversions: paracentric, where the break occurs within the chromosome arms, and pericentric, where the break occurs near the centromere. Inversions involve a single chromosome and change its structure by reversing a segment but do not change the total genetic material.

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Angel Sophia Mendoza
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69 views6 pages

Chromosomal Abnormalities Overview

An inversion is a type of chromosomal rearrangement where a segment of a chromosome is reversed end-to-end within the chromosome. There are two types of inversions: paracentric, where the break occurs within the chromosome arms, and pericentric, where the break occurs near the centromere. Inversions involve a single chromosome and change its structure by reversing a segment but do not change the total genetic material.

Uploaded by

Angel Sophia Mendoza
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Group 4 Presentation

CHROMOSOME INVERSION

An inversion is a chromosome rearrangement in which a segment of a chromosome is


reversed end-to-end. An inversion occurs when a single chromosome undergoes breakage
and rearrangement within itself. Inversions are of two types: paracentric and pericentric.
1. How many
chromosomes are
involved?

● There is 1 chromosomes involved.

2. How did you change


the original structure of
the chromosomes?
•

3. How many
chromosomes are
involved?

● In inversion chromosomal
abberation the chromosome gain or
loss genetic material, the segment of
chromosomes is reinserted into the
other chromosome.
CHROMOSOMAL
ABNORMALITIES
CRI DU CHAT

5p- (5p minus) syndrome, also known as


Cri-du-chat syndrome, is a chromosomal
disease caused by the loss of a
chromosome 5 fragment. This syndrome
causes infants to cry in a high-pitched
cat-like manner. The condition causes
intellectual incapacity and delayed
development, as well as small head size
(microcephaly), low birth weight, and weak
muscular tone (hypotonia) in infancy.
People who are affected also have a
rounded face and wide-set eyes
(hypertelorism). They also feature a
rounded face, low-set ears, and a tiny jaw.
Cri-du-chat syndrome is a condition that
affects some children born with a heart
problem.
CHROMOSOMAL
ABNORMALITIES
DOWN’S SYNDROME

Trisomy 21 or also known as down


syndrome is a situation in which a particular
person has an irregular skull shape, uneven
eyes, irregular hair growth, and is often
difficult to comprehend. This may happen
when the parent is in menopause and
miraculously had a baby, in addition, the
effect of a woman's pregnancy is also
depending on whether she is old or poorly
nourished. In such cases, the cell formed
within the uterus and haven't strong
chromosal mutation so only 21 chromosome
cells are produced, the normal person has
46 chromosomes so if it is not attain the
result will automatically be down syndrome.
CHROMOSOMAL
ABNORMALITIES
EDWARD’S SYNDROME

I include structural mutations that


arise as a result of alterations in the
structure of the chromosomes.
Structural changes in
chromosomes usually occur due to
the property of the chromosomes
to form pairing and undergo
contortions, as well as due to the
tendency to break and form sticky
ends. Structural mutations are
further divided into different types
depending on the mechanism of
the process.

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