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DNA, Genes, Chromosomes, and Cells. Your body is made of trillions of cells, each one with a nucleus.

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Presentation on theme: "DNA, Genes, Chromosomes, and Cells. Your body is made of trillions of cells, each one with a nucleus."— Presentation transcript:

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

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? 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. To determine risk of a genetic disorder or the gender of the child.

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.

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29 Instructions: 1.Carefully cut apart the chromosomes, do NOT lose any! 2.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.

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31 Genetic Disorder Down's SyndromeTurner's SyndromeKlinefelter SyndromeCri du Chat Syndrome karyotype change3 copies of chromosome 21 one X only for chromosome 23 XXY for chromosome 23deleted part of chromosome 5 How often does it occur? 1 in 8001 in in 7501 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 Genetic Disorder Triple X SyndromeEdward's SyndromePatau SyndromeTrisomy 23 karyotype changeXXX for chromosome 233 copies of chromosome 183 copies of chromosome 13XYY for chromosome 23 How often does it occur? 1 in 7001 in 6,0001 in 15,0001 in 2,000 Physical Symptoms 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 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 welcome-turner-syndrome- society-us

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) elter-syndrome

35 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 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 le-x-syndrome/DS01090

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) ite/PageServer?pagename =parents_whatisT18

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 alth/PMH /

39 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 xyy-syndrome


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