Down syndrome
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Down syndrome Presentation Transcript

  • 1. Down Syndrome
    By: Natalie Brennan
  • 2. What is Down syndrome?
    Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46.
    This disorder causes mental retardation and other problems.
    Down syndrome ranges in severity, so developmental problems may range from mild to serious.
  • 3. Causes of Down syndrome
    There are 3 possible abnormalities which all result in extra genetic material from chromosome 21,which causes Down syndrome.
    1
    2
    Trisomy 21
    Mosaic Down syndrome
    3
    • More than 90 percent of cases with Down syndrome are caused by Trisomy 21.
    • 4. With Trisomy 21 there are 3 copies of chromosome 21, instead of the usual 2 copies.
    Translocation Down syndrome
    • rare form of Down syndrome
    • 5. With Mosaic Down syndrome some cells have an extra copy of chromosome 21, but not all.
    • 6. Mosaic Down syndrome is caused by abnormal cell division after fertilization.
    • 7. occurs when part of a chromosome 21becomes attached onto another chromosome, before or at conception.
    • 8. Children with Translocation have the usual 2 copies of chromosome 21, but have additional material from chromosome 21 stuck to the translocated chromosome.
    MOST cases of Down syndrome are NOT inherited.
  • 9. Common physical signs of Down syndrome
    Individuals with Down syndrome have a widely recognized appearance.
    Common physical signs include:
    • flattened nose
    • 10. small ears
    • 11. small mouth
    • 12. upward slanting eyes
    • 13. wide, short hands with short fingers
    • 14. separated joints between the bones of the skull
    • 15. decreased muscle tone at birth
    • 16. protruding tongue
    • 17. small head
  • Risk Factors
    A woman’s chance of giving birth to a child with Down syndrome increases with age.
    Advance
    Maternal
    Aging
    • Age 35 = 1 in 385 chance
    • 18. Age 40 = 1 in 106 chance
    • 19. Age 45 = 1 in 30 chance
    Women who already have a child with Down syndrome typically have a 1 % chance of having another child with Down syndrome.
    Parents who are carriers of the translocation for Down syndrome can pass the genetic translocation onto their children.
  • 20. Statistics about Down syndrome
    • about 1-in-800 risk overall for all births
    • 21. 340,000 people in USA
    • 22. 88% of cases arise from mother's chromosome 21; 8% from father's chromosome 21; 2% from mitotic errors after fusion
    • 23. 66-88% of down patients have some level of hearing loss in at least one ear
    • 24. 40 to 50% of children with Down syndrome have congenital heart defects in the US
  • Tests and Diagnosis
    The most efficient two step screening is done during the 11th week and 14th week of pregnancy.
    First the doctor does an ultrasound to get results, those results are then paired with blood tests.
    “When this two-step screening is done during the 11th week of pregnancy, researchers say it can identify 87 percent of babies with Down syndrome.”
    If a screening test indicates a high chance of Down syndrome, more tests are done to see if the baby actually had Down syndrome.
  • 25. Tests for positive results
    If your tests came back positive or are at a high risk for Down syndrome, you can have further testing.
    Amniocentesis
    • A sample of amniotic fluid is withdrawn from the mother’s fetus, this sample is used to analyze the chromosomes of the fetus.
    • 26. The chance of miscarriage from taking this test is 1 in 200.
    Chorionic villus sampling (CVS)
    • To analyze the fetal chromosomes, cells are taken from the mother’s placenta.
    • 27. The risk for miscarriage by taking this test is 1 in 100.
    Percutaneous umbilical blood sampling (PUBS)
    • To exam for chromosomal defects, blood is taken from the vein in the umbilical cord.
    • 28. This test has a greater risk for miscarriage than both Amniocentesis and CVS.
    • 29. Test usually is only done if completely necessary.
  • Complications with Down Syndrome
    Children with Down syndrome are more likely to have complications. There is a range listed below.
    Heart Defects
    Leukemia
    Infectious Diseases
    Dementia
  • 30. Famous people with Down syndrome
    Chris Burke
    Jane Cameron
    Sujeet Desai
    Bernadette Resha
    Never set limitations for yourself.
  • 31. Work Cited
    http://3.bp.blogspot.com/_u337ThvlyDw/RehYRcEv-1I/AAAAAAAAANY/np3F2zYMpss/s400/Down+syndrome.bmp
    http://www.riversideonline.com/source/images/image_popup/r7_downsyndrome.jpg
    https://health.google.com/health/ref/Down+syndrome
    http://www.riversideonline.com/health_reference/Disease-Conditions/DS00182.cfm
    http://www.catholicnews.com/photos/09hp0245.jpg
    http://images.ic.org/directory/record_images/img/5943/diona.jpg
    http://www.thespeciallife.com/image-files/downs-syndrome-boy.jpg
  • 32. Work Cited Cont.
    http://www.foietlumiere.org/site/im_user/001elie.2jpg.jpg
    http://www.downsyndrome.org.za/images/Micaiah%201.jpg
    http://blog.bioethics.net/downschild-255.jpg
    http://www.wrongdiagnosis.com/d/down_syndrome/stats.htm
    http://johnwilliams713.com/jillnjohn/blog/wp-content/uploads/2009/01/sc00017001.jpg
    http://www.sciencedaily.com/images/2007/07/070718001823-large.jpg