Chromosomal Abnormalities
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The chromosomal aberration are divided into
two types
Numerical
Structural
Non-Disjunction
N.D. :- Failure of separation of chromosome
during meiosis [due to abnormal function of
the spindle] and resulting in one daughter
cell having both the chromosomes & the
other daughter cell having none.
Numerical Abnormalities.
Numerical abnormalities: - when there is abnormality
in the number of chromosomes for a particular
species.
Ex:- Human beings the number of chromosomes
instead of being 46 show a variation either in the
form of one less or more chromosomes or multiplies
of haploid number of chromosomes.
They are of two types.
Numerical Abnormalities
Aneuploidy,
Polyploidy
Hypoploidy Hyperploidy
Monosomy Trisomy
Nullisomy Tetrasomy
Aneuploidy :- when one or two chromosome is less or added to the normal diploid number.
a). Reduction in the number of chromosome is hypoploidy.
Monosomy :- one individual chromosome is missing from a
normal diploid chromosome number i.e. (2n -1)
ie. 45, X0 = Turners syndrome.
Nullisomy :- These are followed by the loss of a pair of
homologous chromosomes from the diploid number i.e.
[2n – 2].
Increase in the number of chromosome to the diploid number is
called Hyperploidy
Trisomy :- These are formed by the addition of one
chromosome to normal diploid number [2n +1]
Ex:- Down’s syndrome [+21]
Edward syndrome [+18]
Patau syndrome [+13]
Tetrasomy :- Addition of a pair of chromosome to the
normal diploid number of chromosome [2n+2]
Polyploidy
Polyploidy :- It is a condition when the number is
increased by multiple of haploid [23] chromosome
other than the diploid number.
Triploidy = 3n
Tetraploidy = 4n
Pentaploidy = 5n
It may occur in telophase of meiosis of when
cytokinesis does not takes place.
Mosaic
Artificial admixture of cell types derived
from a single zygote.
Mosaic
Chimera
Artificial admixture of cell types derived from
more than one zygote.
Structural abnormalities
Deletion
Inversion
Ring Chromosome formation
Iso chromosome formation
Translocation
Duplication
Deletion
A part of chromosome is lost.
Terminal Deletion
Interstitial deletion
Terminal deletion
Interstitial deletion
Inversion
Ring Chromosome formation
Iso chromosome formation
The two arms of Iso chromosomes are minor
images both structurally & genetically. An
Iso chromosome they consists of complete
duplication of one arm and complete
deficiency of other arm.
Iso chromosome
Translocation
Exchange of segments between Non-
homologous chromosomes is known as
translocation.
Reciprocal translocation: -
A break at two places & the fragment get attached to
another chromosome non- homologues forming
reciprocal translocation.
Robertsonian translocation: -
There are two breaks near the centromere of two
acrocentric chromosome involving in short segment
of (2)short arms & long segment of (2) long arm un
casually exchange between these arms leads to
fusion of between two long arms &between two short
arms.
Translocation
Duplication
A single break occurs in one chromosome and
simultaneously 2 breaks occurs in another
chromosome where the two breaks part comes and
fuses in one chromosome where single break
occurs leads to the duplication of genes in that
chromosome.
Duplication
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