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Performance Task 5-Human Mutation Lecture

The document discusses genetic disorders caused by mutations, focusing on Down syndrome, Turner syndrome, and Cri du chat. Down syndrome results from an extra 21st chromosome due to nondisjunction, while Turner syndrome involves the absence or alteration of an X chromosome. Cri du chat is caused by a deletion on chromosome 5, characterized by distinct physical and cognitive impairments.

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6 views8 pages

Performance Task 5-Human Mutation Lecture

The document discusses genetic disorders caused by mutations, focusing on Down syndrome, Turner syndrome, and Cri du chat. Down syndrome results from an extra 21st chromosome due to nondisjunction, while Turner syndrome involves the absence or alteration of an X chromosome. Cri du chat is caused by a deletion on chromosome 5, characterized by distinct physical and cognitive impairments.

Uploaded by

jenina.binene
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as PDF, TXT or read online on Scribd
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Diseases and

Abnormalities
caused by
Mutation
Q. WHAT IS DOWN
SYNDROME ?

Down syndrome is a
chromosomal disorder
caused by an error in cell
division that results in an
extra 21st chromosome.
The condition leads to
impairments in both
cognitive ability and
physical growth.
Q .HOW DO YOU HAVE A BABY WITH
DOWN SYNDROME ?

Down syndrome is typically caused by


what is called nondisjunction.
Nondisjunction happens when a pair of
chromosomes fails to separate during
egg (or sperm) formation. When that
egg unites with a norm sperm to form
an embryo, the embryo ends up with
three copies of chromosome 21
instead of the normal two.
TURNER
SYNDROME
Turner syndrome (TS) also
known as 45,X, is a
condition in which a
female is partly or
completely missing an X
chromosome.
TURNER
SYNDROME
Turner syndrome is due to a
chromosomal abnormality in
which all or part of one of the
X chromosomes is missing or
altered. While most people
have 46 chromosomes, people
with TS usually have 45.
CRI DU CHAT
• “Cri du chat” is caused by the
deletion of part of the short arm of
chromosome 5. “Cri du chat” is French,
and the condition is so named because
affected babies make high-pitched cries
that sound like a cat. Affected individuals
have wide-set eyes, a small head and jaw,
are moderately to severely mentally
retarded, and very short.

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