ploidy

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. MONOSOMY NULLISOMY Gain of chromosomes Having chromosomes more than the disomic condition. TRISOMY 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 spaced eyes)

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. MONOPLOIDY DIPLOIDY 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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