GEB 306: CYTOGENETICS

LECTURE: 10
ANEUPLOIDY
 ANEUPLOIDY
☻ In contrast to euploidy, aneuploidy means presence of a chromosome
number which is different than an exact multiple of a basic chromosome
number.

☻ For instance, if seven is the

basic number (x=7) in a group
of individuals, where the
somatic chromosome number
is 2n=14, then chromosome
numbers like 2n=15 or 2n=13
would be aneuploids.
☻ Thus aneuploidy can be either
due to gain of one or more
chromosomes (hyperploidy) or
due to loss of one or more
chromosomes (hypoploidy)
from a complete somatic
chromosome complement.
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☻ When hyperploidy is mainly
due to gain of a solitary Hyperploidy
chromosome, it is described
as trisomy (2x+1, 4x+1, 6x+1
etc.) and when is due to gain Trisomy Tetrasomy
a pair of homologous
chromosomes, it is described 2x+1; 4x+1; 6x+1 2x+2; 4x+2; 6x+2
as tetrasomy (2x+2, 4x+2,
6x+2 etc.).
☻ Similarly, when hypoploidy is
due to loss of a solitary Hypoploidy
chromosome, it is described
as monosomy (2x-1, 4x-1, 6x-
1 etc.) and when it is due to Monosomy Nullisomy
loss of a pair of homologous
chromosomes, it is described 2x-1; 4x-1; 6x-1 2x-2; 4x-2; 6x-2
as nullisomy (2x-2, 4x-2, 6x-2
etc.).
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Aneuploids in Diploids VS Aneuploids in Polyploids
☻ The aneuploids used for cytogenetics study in diploids are usually
different from those used in polyploids.
☻ Although, hypoploids i.e. deficient aneuploids (eg. monosomic) are more
important than hyperploids (eg. trisomic), they cannot be conveniently
obtained in diploids, since such deficiencies cannot be tolerated by them.
☻ Therefore, it is hyperploids
mainly the trisomics, which are
used for cytogenetic studies in
diploids.
☻ On the other hand, since
deficient aneuploids or
hypoploids (mainly monosomic)
can easily survive in poliploids,
the hyperploids do not have
much relevance for cytogenetic
studies in polyploids where
mainly monosomics are used.
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☻ It is therefore, be seen that in diploids, manly trisomics and in polyploids,

mainly monosomics are used for cytogenetic studies.

Diploids
Hyperploids Trisomic (2x+1)

Polyploids
Hypoploids Monosomic (4x-1)
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Terminology and Classifications of Trisomics
☻ Blakeslee (1921) used the term “trisomic” to signify that a particular
chromosome was present in three doses.
☻ Since each chromosome of a basic chromosome component, in its turn
can be involved in trisomic condition and since the basic chromosome
number in Datura was x=12, only twelve different trisomics, later called
primary trisomics were expected.

Primary Trisomics

1S 1L 2S 2L 3S 3L

1S 1L 2S 2L 3S 3L

1S 1L 2S 2L 3S 3L
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☻ Another group of trisomics, where the extra chromosome was an iso-

chromosome (a chromosome with two identical arms), involving one of the
two arms of the normal chromosome were called secondary trisomics.

Secondary Trisomics

1S 1L 1S 1L

1S 1L 1S 1L

1S 1S 1L 1L
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☻ Similarly, trisomics, where the extra chromosome consists of segments
from non-homologous chromosome was called a tertiary trisomic.

Tertiary Trisomics
1S 1L 1S 1L

1S 1L 1S 1L

1S 2L 1S 3L

1S 1L 1S 1L

1S 1L 1S 1L

2S 1L 3S 1L
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☻ Telotrisomic: Extra chromosome will be the telocentric of the same
chromosome.
☻ Acrotrisomic: Extra chromosome will be the acrocentric by fragmentation
of the same chromosome.
☻ Fragmented trisomic: Extra chromosome will be the fragmented
segment of the same chromosome.

Telotrisomic Acrotrisomic Fragmented trisomic

1S 1L 1S 1L 1S 1L

1S 1L 1S 1L 1S 1L

1L 1L
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☻ Another class of trisomics was also recorded, which could not be fitted
into any of the class described earlier.
☻ This trisomic had a missing chromosome, which was in its turn
represented in the form of segments with two extra chromosomes.
☻ Since the loss of one missing chromosome was compensated by two
extra chromosomes, these were designated as compensating trisomics.

Compensating Trisomics

1S 1L 1S 1L

1S 2L 2S 1L

3S 1L 1S 3L
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Primary Trisomics Secondary Trisomics Tertiary Trisomics
1S 1L 1S 1L 1S 1L

1S 1L 1S 1L 1S 1L

1S 1L 1S 1S 1S 2L

Compensating Trisomics

1S 1L 1S 1L

1S 2L 2S 1L

3S 1L 1S 3L
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☻ The short and long arms of a chromosome are represented as S and L

respectively, so that chromosome 1 will be shown as 1S.1L, chromosome
2 as 2S.2L as so one.
☻ So the corresponding trisomics are called triplo 1, triplo 2 and so on.
☻ Moreover, chromosome 1 is reffered to as 1S.1L and triplo 1 as 2x+1S.1L.
☻ Similarly secondary trisomics for chromosome 2 are 2x+2S.2S and
2x+2L.2L and a tertiary trisomic involving 1S and 2S is 2x+2S.1L.

Chromosome 1 Chromosome 2
S L S L
S L S L
S L S L

Triplo 1: 2x+1S.1L Triplo 2: 2x+2S.2L

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Different types of trisomics, their chromosome constitutions and meiotic
configurations (x=12)
Trisomic Types 2n=2x+1 Chromosome Constituents Meiosis
Primary trisomic 25 2x + 1S.1L (Fig. A) 11II +1III
Secondary 25 2x + 1S.1S (Fig. B) 11II +1III
trisomic
2x + 1L.1L (Fig. C) 11II +1III
Tertiary trisomic 25 2x + 1S.2L (Fig. D & E) 10II +1V
Telotrisomic 25 2x + .1S (Fig. F) 11II +1III
2x + .1L (Fig. G) 11II +1III