Simple

1. CHROMOSOME
• It is entire chain of DNA along with entire group of stabilizing proteins
• Is a career of genetic information.

2. CHROMOSOMAL ABNORMALITIES
• Is a disorder characterized by a morphological or numerical
alternation, in a single or multiple chromosomes affecting autosomes,
sex chromosomes or both
• Are genetic disorder ,condition that occur due to a problem with one
pf the chromosomes
• It can affect the,
Number of chromosomes
Structure of chromosomes
Composition of chromosomes

3. CHROMOSOMES SYNDROMES
• There are several different genetic syndromes caused by missing or extra chromosomes including,
• Down syndrome
• Turner
• Klinefelter
• Trisomy 18
• Trisomy 13
 Down syndrome (trisomy 21) is a condition in which a person has extra chromosomes
Characteristic –flat facial features, small heads, ears, short neck, bulging toung , poor muscle tore and so on
 Turner syndrome – a chromosome disorder in which a female is born with only one X-chromosome
Characteristics –low set ears
High narrow roof of mouth
Arms that turn outward at the elbows
Brood chest with widely spaced nipples
 Klinefelter syndrome – a genetic condition in which may a male is born with an extra copy of X-chromosomes
- Is not inherited but rather occurs only as a result of random genetic error after conception
 Trisomy 13- a serious rare genetic disorder caused by having an additional copy of chromosome in in some or all body cells.

4. Klinefelter syndrome

5. Trisomy 18

6. Down syndrome, child

7. Down syndrome, child

8. Down syndrome, child

9. CHROMOSOMES SIGNS & SYMPTOMS
• This can include extra ,missing or irregular chromosomes
Abnormal shaped head
Below average height
Cleft lap (opening in the lip/mouth
Low birth weight
Learning disabilities
‘little to no body hair
Mental & physical impairments

11. STRUCTURAL ABNORMALITY
• Chromosomal structure can be altered in several ways
1. DELETION-a portion of chromosome is missing or deleted
2. DUPLICATION- caused by the gain of a copy of chromosomal
segment at the original location of chromosome
3. TRANSLOCTION- is a portion of one chromosome is transferred to
another chromosome
4. INVERSION – is a single chromosome undergoes breakage and re
arrangement with its self.

12. Structural abnormalities

13. Structural abnormalities

14. Structural abnormalities

15. STRUCTURAL ABNORMALITIES TREATMENT
• In many cases there is no treatment or cure for chromosome
abnormalities. However,
Genetic counseling
Physical therapy
Occupational therapy