1. DNA, Genes, Chromosomes, and Cells

2. Your body is made of trillions of cells, each one with a nucleus.

3. Inside each nucleus are 46 chromosomes.

4. You got 23 from mom, 23 from dad

5. Chromosomes are made of many genes

6. DNA Genes are made of long sections of DNA (deoxyribonucleic acid)

7. Some of the genes you inherit are dominant, some of the them are recessive.

8. Scientists can look at these genes on your chromosomes and use them to help diagnose disease or provide better treatment.
You may soon go to your doctor with a picture of your chromosomes

9. Karyotype

10. Normal babies have cells with 46 chromosomes

11. Normal sperm and egg cells each have 23 chromosomes

12. A picture of a cell’s chromosomes is called a karyotype.

13. Chromosomes are paired up and lined up according to their patterns and size.

14. We use “cartoon” versions of chromosomes to make our task easier.
The different patterns on chromosomes are different genes for traits

15. A karyotype can be used to diagnose a disease or determine gender

16. Boys are XY, girls are XX for chromosome #23

17. Sometimes there are extra or missing chromosomes

18. Turner’s Syndrome (one X)

19. Klinefelter’s Syndrome (XXY)

20. Cri du Chat Syndrome (deleted part of chromosome 5)

21. Down Syndrome (3 copies of #21)

22. Karyotypes can be made for a fully formed human or for a developing fetus.

23. Why would a parent want to know a child’s karyotype?
To determine risk of a genetic disorder or the gender of the child.
Early testing can help parents prepare physically and emotionally for the birth of their child. They can be better prepared to meet the needs of their child with early intervention and care.

24. Even plants can have a karyotype made of their chromosomes for identification purposes

25. Genetic testing can now be used to search for potential diseases
Breast/ovarian cancer (#17 and 13)
Alzheimer’s (#19)
Cystic Fibrosis (#7)
Autism (#15 is different if the person has this disease-not yet known why this happens)

26. Genetic testing can also be used to determine gender, especially in cases of elite athletes.

27. Your task:
You will receive a sample of chromosomes from a developing fetus.
You must arrange the chromosomes according to size and pattern into a karyotype.
You will then determine the gender and disease this child may have (if any).
Conclusion questions and karyotype are due on Thursday.

29. Carefully cut apart the chromosomes, do NOT lose any!
Instructions:
Carefully cut apart the chromosomes, do NOT lose any!
Using the “Normal Karyotype” as your guide, arrange the patient’s chromosomes according to the same pattern.
3. Glue/Tape the chromosomes into place on the attached paper.
4. Compare your patient’s karyotype to the normal karyotype and the disease chart to determine, what disease, if any, the child has.

31. one X only for chromosome 23 XXY for chromosome 23
Genetic Disorder
Down's Syndrome
Turner's Syndrome
Klinefelter Syndrome
Cri du Chat Syndrome
karyotype change
3 copies of chromosome 21
one X only for chromosome 23
XXY for chromosome 23
deleted part of chromosome 5
How often does it occur?
1 in 800
1 in 2000
1 in 750
1 in 50,000
Physical Symptoms
mental retardation, eyes slant upwards, prone to heart defects and respiratory problems.
normal female in childhood, normal intelligence, fails to fully undergo puberty and will remain infertile
male, normal in appearance and intelligence, sterile, may show some female characteristics (breast development, feminine body shape)
distinctive cat-like cry in babies, respiratory problems, shortened life span is possible
Triple X Syndrome
Edward's Syndrome
Patau Syndrome
Trisomy 23
XXX for chromosome 23
3 copies of chromosome 18
3 copies of chromosome 13
XYY for chromosome 23
1 in 700
1 in 6,000
1 in 15,000
1 in 2,000
female with normal intelligence and appearance, may be sterile
feeding and breathing difficulties, developmental delays, deformation of head and face, cardiac defects, often results in early death
mental retardation, cleft palate, extra fingers and toes, incomplete development of internal organs, often results in early death
male with low mental ability, normal in appearance

32. Genetic Disorder Down Syndrome karyotype change
3 copies of chromosome 21
How often does it occur?
1 in 800
Physical Symptoms
mental retardation, eyes slant upwards, prone to heart defects and respiratory problems.

33. one X only for chromosome 23
Genetic disorder
Turner Syndrome
karyotype change
one X only for chromosome 23
How often does it occur?
1 in 2000
Physical Symptoms
normal female in childhood, normal intelligence, fails to fully undergo puberty and will remain infertile

34. Genetic disorder Klinefelter Syndrome karyotype change
XXY for chromosome 23
How often does it occur?
1 in 750
Physical Symptoms
male, normal in appearance and intelligence, sterile, may show some female characteristics (breast development, feminine body shape)

35. deleted part of chromosome 5
Genetic disorder
Cri du Chat Syndrome
karyotype change
deleted part of chromosome 5
How often does it occur?
1 in 50,000
Physical Symptoms
distinctive cat-like cry in babies, respiratory problems, shortened life span is possible

36. female with normal intelligence and appearance, may be sterile
Genetic disorder
Triple X Syndrome
karyotype change
XXX for chromosome 23
How often does it occur?
1 in 700
Physical Symptoms
female with normal intelligence and appearance, may be sterile

37. Genetic disorder Edwards Syndrome karyotype change
3 copies of chromosome 18
How often does it occur?
1 in 6,000
Physical Symptoms
feeding and breathing difficulties, developmental delays, deformation of head and face, cardiac defects, often results in early death (fewer than 10% live for a year)

38. Genetic Disorder Patau Syndrome karyotype change
3 copies of chromosome 13
How often does it occur?
1 in 15,000
Physical Symptoms
mental retardation, cleft palate, extra fingers and toes, incomplete development of internal organs, often results in early death

39. male with low mental ability, normal in appearance
Genetic Disorder
Trisomy 23
karyotype change
XYY for chromosome 23
How often does it occur?
1 in 2,000
Physical Symptoms
male with low mental ability, normal in appearance