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!