1. Down syndrome is a genetic condition caused by the presence of an extra chromosome 21. 2. It can be detected through various screening and diagnostic tests, including analyzing maternal serum markers, ultrasound findings, and molecular diagnostic techniques. 3. Individuals with Down syndrome may experience both physical and intellectual disabilities to varying degrees depending on genetic and environmental factors.

1. DOWN
SYNDROME)
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http://www.student.chula.ac.th/~53370663/
Down syndrome

2. 46
46, xx 46, xy
21 3
2 TRISOMY
21 95
TRANSLOCATION

3. 14 21
4
46 47
1
MOSAIC
1-2
2 2
12-15
Trainable)

4. 35

5. 1 1,000
" 21

6. Down Syndrome
1
1,000
4,000
1,000

7. 11

9. 36
2,720

10. 29
30
3
3

11. 10 2542
3
1. genetic factor)
2. biological factor)
3. environmental factor)

12. 1.
40
down syndrome)
45
30
2.
2.1

13. 2.1.1
2.1.2
3
2.1.3

14. 2.1.4
2.1.5
2.1.6

15. 2.1.7
6
2-3
2.1.8
nicotenic acid)
6
40
2.2

16. 2.2.1
37
1,500
(cerebral palsy)
2.2.2
2.2.3
2.2.4

17. 2.3
2.3.1
5
2.3.2
2.3.3

18. 2.3.4
24
3
2.3.5
3.

19. 3.1
psychosocial disadvantage)
3.2
sensory deprivation)

20. Down Syndrome)
Down Syndrome)
Down Syndrome
47
46 1
21 1
Trisomy 21
Down Syndrome)
3

21. Simian line)
Hyperextensive Joint)
IQ)

22. :

25. 1.
2.

26. 3.
4.
6
5.
6.
7.
8.
9.
Growth Hormone ,Thyroid Hormone )

27. 10.
–5
Embryo

28. Down
syndrome)
Down
syndrome)
1
21 3 2
TRISOMY 21 95%
TRANSLOCATION
14 21
4%

29. 46 47
1% MOSAIC
( 29 2547

30. Screening by
maternal age)
35

31. Serum – Base Screening)
Maternal Serum alpha Fetoprotien (MS-
AFP) Serum unconjugated estriol (UE3)
Serum beta human chorionic gonadotropin
( B-HCG) inhibin a
70-80

32. 18 -20
40-50
2

33. 80-87

34. Molecular Diagnostic
•
DNA, RNA
protein
• biotechnology DNA
RNA PCR
•Normal PCR
•Real time PCR (RT-PCR) –DNA Microarray or Gene Chips –Mass
Spectrometry –2D gel electrophoresis

35. http://downsyndromeubu.exteen.com/20080217/e
ntry-3
http://www.ideaforlife.net/health/disease/down_s
yndrome/index.html

36. http://downsyndromeubu.exteen.com/20080217/e
ntry-1