ploidy and its types in genetics. examples and syndromes applications

1. PLOIDY AND ITS TYPES
SUBMITTED BY: MA.NITYA
K. RAJ BHARANI
SABAREESHA
SAM
SANTHOSH

2. no of sets of
homologous
chromosomes in the
genome of the organism

3. It is the presence of abnormal no of chromosomes
present in a cell.
Aneuploidy originates during cell division when
chromosomes do not separate properly
(nondisjunction).
It causes miscarriage and chromosomal disorders.
ANEUPLOIDY Missing or extra
chromosomes

4. HYPOPLOIDY HYPERPLOIDY
•Loss of chromosomes
•Having chromosomes less than the
disomic condition.
A. MONOSOMY
B. NULLISOMY
•Gain of chromosomes
•Having chromosomes more than the
disomic condition.
A. TRISOMY
B. TETRASOMY

5. MONOSOMY
• Monosomy means that an organism is
missing one chromosome in a pair.
• The chromosome is completely or
partially lost.
2N – 1
Eg. Turners syndrome

6. TURNERS SYNDROME. Turner syndrome, a condition that
affects only females, results when one
of the X chromosomes (sex
chromosomes) is missing or partially
missing
 short height
 failure of the ovaries
to develop
heart defects

7. NULLISOMY
• Nullisomy is a genome mutation
where a pair of homologous
chromosomes that would
normally be present is missing.
2N – 2
• Lethal in diploids.
• May occur in hexaploid wheat.

8. TRISOMY
• Trisomy is the presence of three
chromosomes instead of the usual pair of
chromosomes ( 1 extra chromosome).
2N + 1
Eg. Down syndrome
Edward syndrome
Klinefleter syndrome

9. DOWN SYNDROME
Down syndrome is a genetic
disorder caused when abnormal cell
division results in an extra full or
partial copy of chromosome 21.
distinct facial appearance
intellectual disability
developmental delays
 thyroid
heart disease.

10. EDWARD SYNDROME

11. KLINEFLETER SYNDROME
• Klinefelter syndrome is a genetic
condition in which a boy is born with
an extra X chromosome.
XXY 47
 low testosterone
 reduced muscle mass, facial hair and body
hair.
 Breast growth

12. TETRASOMY
• Tetrasomy is a type of aneuploidy
where there is a gain of extra two
chromosomes of the same type.
2N + 2
Eg. Pallister killian syndrome
Cat eye syndrome.

13. PALLISTER KILLIAN SYNDROME
presence of at
least four copies of
the short arm of
chromosome 12
instead of the
normal two.
have low muscle
tone at birth
(hypotonia),
sparse scalp hair, a
high forehead, a
coarse face.
large ears with lobes
that are thick and
protrude outward.
can experience
problems with
feeding, breathing,
walking and standing

14. CAT EYE SYNDROME
usually appears as a cleft or
gap in the iris below the pupil,
and the elongated pupil
therefore resembles the
appearance of a cat's eye.
Unusually shaped ears.
Conductive hearing
loss.
Hypertelorism (widely

15. EUPLOIDY
 Euploidy is a chromosomal variation that involves the entire set of
chromosomes in a cell or an organism.
 i.e. loss or gain of the full set of chromosomes. It mostly occurs in plants.
i. MONOPLOIDY
ii. DIPLOIDY
iii. PLOYPLOIDY

16. MONOPLOIDY
An individual that
contains one half the
normal number of
chromosomes is a
monoploid and exhibits
monoploidy
PARTHENOGENESIS

17. DIPLOID
• The state of being diploid, that is
having two sets of the
chromosomes (and therefore two
copies of genes).
• eg. Somatic cells

18. POLYPLOIDY
• Polyploidy is a condition in which the cells of an organism
have more than two paired sets of chromosomes.
• Polyploidy arises as the result of total nondisjunction
of chromosomes during mitosis or meiosis.
• Normally a hybrid is sterile because it does not have the
required homologous pairs of chromosomes for
successful gamete formation during meiosis.
• Through polyploidy, the plant duplicates
the chromosome . Thus, polyploidy confers fertility.

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