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Mosaicism PDF

Mosaicism is a condition where two or more chromosomal complements are present in the cells of an individual derived from a single zygote. It can occur due to errors in mitosis where cells end up with an extra or missing chromosome. This causes some cells to behave differently and can result in health issues or physical abnormalities depending on the level of mosaicism. Mosaicism is often confused with but different from chimerism which involves cells from multiple zygotes. Common causes include nondisjunction during cell division.

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Sidratul Muntaha Mullick
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428 views

Mosaicism PDF

Mosaicism is a condition where two or more chromosomal complements are present in the cells of an individual derived from a single zygote. It can occur due to errors in mitosis where cells end up with an extra or missing chromosome. This causes some cells to behave differently and can result in health issues or physical abnormalities depending on the level of mosaicism. Mosaicism is often confused with but different from chimerism which involves cells from multiple zygotes. Common causes include nondisjunction during cell division.

Uploaded by

Sidratul Muntaha Mullick
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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TOPIC :- MOSAICISM

What is mosaicism? What is its cause?

Mosaicism is a condition in which there is


presence of two or more chromosomal
complements found in the same tissue of
an individual where cells derived from same
genetic origin/zygotic genotype.
This can occur in any type of cell and may
cause health problems to the body.
Mosaicism may also be present in any
common individual, without any serious
clinical issues, in the form of mole, different
colours of iris, thin hair, patches of
abnormal skin colour,spots on skin(as in
ichthyosis with confetti),etc.

Mosaicism may be caused by an error in


mitosis. If there is an error in mitosis(like,
non-disjunction), a cell doesn’t split evenly
into 2 cells. The result is that some cells
have the normal number of 46
chromosomes, and other cells have more
(47) or fewer (45) chromosomes.

Mosaicism can arise when there is a


mutation in early development so there can
be group of cells that behave differently.
This can happen at gene level or the whole
chromosome.
Mosaicism is often confused with
chimerism. The difference lies in the fact
that the former involves origin from a single
zygote while the latter is for individuals
originated from more than one zygote.

Mechanism of Mosaic formation


• Non disjunction
• Anaphase lag
• Premature centromere division
Examples:-
1. Germinal mosaicism- XXX
syndrome, Turner syndrome, etc.

2. Somatic mosaicism- Ring


chromosome-14 syndrome, Mosaic
down syndrome, trisomy 18 etc.

When turner or down syndrome is present


with mosaicism, of normal genotype
pattern, intensity of disease manifestation
is decreased and as a result, it is
comparatively less fatal!

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