CHROMOSOMAL MUTATION

- A chromosomal mutation is a mutation involving a long segment of DNA. These mutations can
involve deletions, insertions, inversions, or translocations of sections or segments of DNA. In
some cases, deleted portions may attach to other chromosomes, disrupting both the chromosomes
losing the DNA and the one gaining it. Chromosome structure 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.  In living organisms, mutations occur at a
rate one per every ten million cell replications.

Chromosomal mutation usually occurs during any errors in cell division. This happens when
homologous chromosomes paired up, genes in chromosomes broke apart, genes inserted in the
wrong chromosome, or genes or set of genes are completely lost in the chromosome.

Types of Chromosomal Mutations:

DELETION
- these occur when a piece of a chromosome accidentally gets removed or deleted. There can
be cases with one piece deleted at the end (terminal deletion), two deletions – one deleted
within the chromosome, and one on the end – (interstitial deletion).

INVERSION
- these occur when the chromosome is inversed, and its segments are reversed from end to
end. A piece of the chromosome is removed then reattached but in the opposite direction than
it was originally.

DUPLICATION
- As the name implies, an extra copy of a segment or the entire chromosome is present in
the nucleus. These are also known as partial trisomies. Often an organism that usually has
two copies of a chromosome will have three in the case of duplication. This can happen
anywhere along the chromosome whether in the middle or on the ends.

TRANSLOCATION
- this happens when a segment of a chromosome breaks off and then relocates to a
completely different chromosome. Reciprocal translocation occurs when pieces of
chromosomes “swap” places.
 CRI-DU-CHAT SYNDROME (Example of Deletion)
- Cri-du-chat (cat’s cry)
Syndrome, also known as 5p- (5p
minus) is a chromosomal
condition hat results when a piece
of chromosome 5 is missing.
- Infants with this condition often
have a high-pitched cry that
sounds like to that of a cat.
- The disorder is characterized by
intellectual disability and delayed
development, small head size, low birth
weight, and weak muscle tone in infancy.
- Affected individuals also have distinctive
facial features, including widely set eyes,
low-set tears, a small jaw, and a rounded
face. Some children with this syndrome
are born with heart defect.

CAUSES
Cri-du-chat syndrome is caused by chromosomal deletion. This chromosomal change is
written as 5p-. The size of the deletion varies among affected individuals; according to
studies, the larger deletions tend to result in more severe intellectual disability and
development delay smaller deletions.

The signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple
genes on the short arm of chromosome 5.

INHERITANCE
Most cases of this syndrome are not inherited. The deletion occurs most often as a random
event during the formation of reproductive cells or in early fetal development. Affected
people typically have no history of the disorder in their family.
About 10% of people with cri-du-chat syndrome inherit the chromosome abnormality from
an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called
balanced translocation, in which no genetic material is gained or lost.
Children who inherit an unbalanced translocation can have a chromosomal rearrangement
with extra or missing genetic material. Individuals with cri-du-chat syndrome who inherit an
unbalanced translocation are missing genetic material from the short arm of chromosome 5,
which results in the intellectual disability and health problems characteristics of this disorder.

OTHER NAMES OF THIS CONDITION:

- 5P Deletion Syndrome
- 5p- Syndrome
- Cat cry Syndrome
- Chromosome 5p- Syndrome
- Monosomy 5p

Submitted by: CORPUZ, MICHAELLA B.

AGUILAR, ADMIEL ANDRY T.
10-diamond

Submitted to: Ma’am CHARVIMAR SAET

Science Subject Teacher