Types of chromosomal

mutation involving
changes in number

By ： Chong Aik Long

1) Aneuploidy diploid organism gains/losses 1 or more chromosome
2) Euploidy diploid organism gains 1 or more haploid set of chromosomes
Types Example Explanation
Nullisomy (2n-2) (1 2 3 4) (1 2) 2 different chromosomes from
non-homologous chromosome
are missing from complete
diploid set of chromosomes

Monosomy (2n-1) (1 2 3 4) (1 2 3) 1 chromosome is missing from

complete diploid chromosome
set

Trisomy (2n+1) (1 2 3 4) (1 2 3 4) (1) 1 extra chromosome is added

to complete diploid
chromosome set

Double Trisomy (1 2 3 4) (1 2 3 4) (1 2) 2 extra different chromosomes

(2n+1+1) of non-homologous
chromosome are added to
complete diploid chromosome
set

Tetrasomy (2n+2) (1 2 3 4) (1 2 3 4) (1 1) 2 extra same chromosomes are

added to complete diploid
chromosome set

Pentasomy (2n+3) (1 2 3 4) (1 2 3 4) (1 2 3) 3 extra different chromosomes

are added to complete diploid
chromosome set
Aneuploidy is caused by non-disjunction
Non-disjunction: chromosome or chromatid fail to separate during
the meiosis (Anaphase I orAnaphase II)
Normal meiosis I – Anaphase I: - Chromosomes are pulled to the
opposite poles - Chromosomes are separated
 01 NON-DISJUCTION
IN ANAPHASE

• Non-disjunction in Anaphase I:
 Spindle fibers are not formed during Anaphase I
 Conclusion made are non-disjunction at AnaphaseI
of meiosis I will produce 50% gametes with
chromosome n+1 and another 50% gametes with
chromosome n-1
•  Non-disjunction in Anaphase II:
 Conclusion can be made; when non-disjunction
takes place at Anaphase II of meiosis II, 50%
gametes (n), 25% gametes (n+1) and 25% gametes
(n-1)
02 NON DIJUSTION
MEIOSIS 1

Non-disjunction at Anaphase I of meiosis I will produce 50% gametes with

chromosome n+1 and another 50% gametes with chromosome n-1
One abnormal ovum will have 22+XX chromosomes (n+1) and the other one
with 22 chromosomes (n-1)
When abnormal egg cell (22+XX) is fertilized by normal sperm (22+X),
offspring produced has 44+XXX chromosomes, a triple-X female
When abnormal egg cell (22+XX) is fertilized by normal sperm (22+Y),
offspring produced has 44+XXY chromosome, a male with Klinefelter’s
syndrome
When abnormal egg cell (22) is fertilized by normal sperm (22+X), offspring
produced has 44+XO chromosomes, a female with Turner’s syndrome
44+Y chromosome, the offspring is not viable and unable to live
Non-disjunction at Anaphase I of meiosis I will produce 50%
gametes withchromosome n+1 and another 50%gametes with
chromosome n-1
One abnormal sperm will have 22+XY chromosomes (n+1)
and the other one with 22 chromosomes (n-1)
When abnormal sperm (22+XY) is fertilized by normal egg
cell (22+X) offspring produced has 44+XXY chromosomes, a
male with Klinefelter’s syndrome
When abnormal sperm (22) is fertilized by normal egg cell
(22+X) offspring produced has 44+XO chromosomes, a
female with Turner’s syndrome
 02 NON DISJUCTION
MEIOSIS 2

When a sperm undergoes non-disjunction at meiosis II, gametes formed are XX

(n+1), YY (n+1) and 2 O gametes (n-1)
When abnormal sperm (22+XX) is fertilized by normal egg cell (22+X), the
offspring produced has 44+XXX chromosomes, a Triple-X female
When abnormal sperm (22+YY) is fertilized by normal egg cell (22+X), the
offspring produced has 44+XYY chromosomes, a super-male
Abnormal sperms with 22 chromosomes when fertilized with normal egg cell
(22+X) will produce offspring with 44+XO chromosomes, a female with
Turner ‘s syndrome
Types of Genetic constitution Characteristic
abnormality
Abnormality in number of XXY Male, small testis, fail to
sex form sperm.
chromosome Large breasts and voice
a) Klinefelter’s syndrome like a female
b) XYY XYY Male, Psychopathic
syndrome/Super-male
c) Triple-X XXX Female, slight mental
retardation
d) Turner’s syndrome XO Female, barren, ovaries
and breasts are not
developed. No menstrual
cycle and no
ovulation. Dwarves, deaf,
has heart
abnormalities and low IQ
Abnormality in number of 3 chromosome 21 Drooping eyes, low
autosomes resistance to
a) Down’s syndrome infections and mentally
retarded
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