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A Mutation on the 22 nd Chromosome
1.
 Graduated 1946 from Temple University
 In WWII, served as a medical officer in Linz, Germany
    (where Adolf Hitler grew up)
   In 1953, became a professor at Temple
   He was a pediatric endocrinologist- deals with physical
    growth and sexual development in childhood
   He noted the immunological consequences associated
    with the absence of the thymus gland
   Published his findings in 1968
 Caused by a genetic mutation on 22nd chromosome
  that results in the deletion of a portion of it
 Autosomal dominant immunodeficiency
 Results in poor development of several body systems
 The underlying cause is a shrunken or missing thymus
  gland
2.
      Contains 500 to
       800 genes
      Genes codes for
       the development
       of the thymus
       gland are missing
      Region known as
       22q11.2
        Contains 30-40
         genes
3.
 Specialization in the       4.
  immune system
 Most active as a child
  and begins to atrophy
  in puberty as a result of
  increase in sex
  hormones
 Produce T-
  Lymphocytes
   These are your white
    blood cells
 Shrinkage of parathyroid glands- results in
    hyposecretion of PTH (parathyroid hormone)
   Messes up regulation of calcium and phosphorus
   Bluish skin (poor circulation of oxygen) – cyanosis
   Delayed speech development
   Cleft palate can usually be surgically repaired
   Spasms of the mouth and throat (tetany)
   Frequent infections due to decline in immune system
   Low set ears, wide set eyes, or a narrow groove in the
    upper lip
Example of Cleft Palate   Example of Cyanosis


5.                        6.
 Not an actual syndrome, rather a type of disorder

 Cardiac effects
 Abnormal facial features
 Thymic hypoplasia
 Cleft palate
 Hypocalcaemia
 22 –refers to the chromosome
 DSG occurs in one infant per 4,000 born
 It is a lifelong condition that affects mostly children
  and infants
 Approximately one-third of affected adults experience
  recurring infections        7.
 Pitcher for the Chicago Cubs
 In 2009 Dempster and wife
    Jenny gave birth to daughter
    Riley Dempster who was born
    with Digeorge Syndrome.
   Dr.’s focus on Riley’s feeding and
    swallowing
   Tracheostomy and Passy-muir
    Valve
   Created “Dempster Family
    Foundation” for kids with
    Digeorge syndrome.
   Ryan was nominated twice for
    the Roberto Clemente award for
    his community service.
Di george syndrome ppt
1.   MayoClinic. (2011, August 09). Digeorge syndrome. Retrieved
     from http://www.cnn.com/HEALTH/library/digeorge-
     syndrome/DS00998.html
2.   Jeffries, I. (n.d.). Who named it?. Retrieved from
     http://www.whonamedit.com
3.   Win, P. H., & Kaliner, M. A. (2010). Immunilogic aspects of
     digeorge syndrome. Retrieved from
     http://emedicine.medscape.com/article/135711-overview
4.   Bawle, E. V. (2010, August 11). Digeorge syndrome. Retrieved
     from http://emedicine.medscape.com/article/886526-
     overview
5.   Children's Hospital of Wisconsin. (2011). Digeorge syndrome.
     Retrieved from
     http://www.chw.org/display/PPF/DocID/23047/router.aspm/d
     octor.cfm/2047.html
 1)Max Appeal. (n.d.). Supporting families affected by digeorge syndrome, vcfs
    and 22q11.2 deletion. Retrieved from
    http://www.maxappeal.org.uk/information/introduction_(faqs)
   2)Chromosome 22 ideogram. (2006, January 06). Retrieved from
    http://www.springerimages.com/Images/Biomedicine/5-10.1186_1471-2407-6-2-
    0
   3) Tissot, R. (n.d.). www.uic.edu. Retrieved from
    http://www.uic.edu/classes/bms/bms655/lesson3.html
   4)Thirdage.com. (n.d.). Retrieved from
    http://www.thirdage.com/hc/p/239516/what-is-removal-of-the-thymus-gland
   5)Good Health Hub. (2011, November 24). Digeorge syndrome. Retrieved from
    http://goodhealthhub.com/digeorge-syndrome/
   6)Unsw embryology. (2011, October 13). Retrieved from
    http://php.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project
    _6
   7) Polyvore. (2010). Retrieved from
    http://www.polyvore.com/cartoon_people_world/set?id=16805710
 Arroyave, L. (2010, August 08). Cubs' ryan dempster
  hosting 'south beach' fundraiser at joe's
  seafood.Chicago Tribune. Retrieved from
  http://leisureblogs.chicagotribune.com/about-last-
  night/2010/08/cubs-ryan-dempster-hosting-south-
  beach-fundraiser-at-joes-seafood.html
 Rile'ys milestones. (2009, April). Retrieved from
  http://dempsterfamilyfoundation.org/about_family/ri
  leys_milestones/

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Di george syndrome ppt

  • 1. A Mutation on the 22 nd Chromosome
  • 2. 1.
  • 3.  Graduated 1946 from Temple University  In WWII, served as a medical officer in Linz, Germany (where Adolf Hitler grew up)  In 1953, became a professor at Temple  He was a pediatric endocrinologist- deals with physical growth and sexual development in childhood  He noted the immunological consequences associated with the absence of the thymus gland  Published his findings in 1968
  • 4.  Caused by a genetic mutation on 22nd chromosome that results in the deletion of a portion of it  Autosomal dominant immunodeficiency  Results in poor development of several body systems  The underlying cause is a shrunken or missing thymus gland
  • 5. 2.  Contains 500 to 800 genes  Genes codes for the development of the thymus gland are missing  Region known as 22q11.2  Contains 30-40 genes
  • 6. 3.
  • 7.  Specialization in the 4. immune system  Most active as a child and begins to atrophy in puberty as a result of increase in sex hormones  Produce T- Lymphocytes  These are your white blood cells
  • 8.  Shrinkage of parathyroid glands- results in hyposecretion of PTH (parathyroid hormone)  Messes up regulation of calcium and phosphorus  Bluish skin (poor circulation of oxygen) – cyanosis  Delayed speech development  Cleft palate can usually be surgically repaired  Spasms of the mouth and throat (tetany)  Frequent infections due to decline in immune system  Low set ears, wide set eyes, or a narrow groove in the upper lip
  • 9. Example of Cleft Palate Example of Cyanosis 5. 6.
  • 10.  Not an actual syndrome, rather a type of disorder  Cardiac effects  Abnormal facial features  Thymic hypoplasia  Cleft palate  Hypocalcaemia  22 –refers to the chromosome
  • 11.  DSG occurs in one infant per 4,000 born  It is a lifelong condition that affects mostly children and infants  Approximately one-third of affected adults experience recurring infections 7.
  • 12.  Pitcher for the Chicago Cubs  In 2009 Dempster and wife Jenny gave birth to daughter Riley Dempster who was born with Digeorge Syndrome.  Dr.’s focus on Riley’s feeding and swallowing  Tracheostomy and Passy-muir Valve  Created “Dempster Family Foundation” for kids with Digeorge syndrome.  Ryan was nominated twice for the Roberto Clemente award for his community service.
  • 14. 1. MayoClinic. (2011, August 09). Digeorge syndrome. Retrieved from http://www.cnn.com/HEALTH/library/digeorge- syndrome/DS00998.html 2. Jeffries, I. (n.d.). Who named it?. Retrieved from http://www.whonamedit.com 3. Win, P. H., & Kaliner, M. A. (2010). Immunilogic aspects of digeorge syndrome. Retrieved from http://emedicine.medscape.com/article/135711-overview 4. Bawle, E. V. (2010, August 11). Digeorge syndrome. Retrieved from http://emedicine.medscape.com/article/886526- overview 5. Children's Hospital of Wisconsin. (2011). Digeorge syndrome. Retrieved from http://www.chw.org/display/PPF/DocID/23047/router.aspm/d octor.cfm/2047.html
  • 15.  1)Max Appeal. (n.d.). Supporting families affected by digeorge syndrome, vcfs and 22q11.2 deletion. Retrieved from http://www.maxappeal.org.uk/information/introduction_(faqs)  2)Chromosome 22 ideogram. (2006, January 06). Retrieved from http://www.springerimages.com/Images/Biomedicine/5-10.1186_1471-2407-6-2- 0  3) Tissot, R. (n.d.). www.uic.edu. Retrieved from http://www.uic.edu/classes/bms/bms655/lesson3.html  4)Thirdage.com. (n.d.). Retrieved from http://www.thirdage.com/hc/p/239516/what-is-removal-of-the-thymus-gland  5)Good Health Hub. (2011, November 24). Digeorge syndrome. Retrieved from http://goodhealthhub.com/digeorge-syndrome/  6)Unsw embryology. (2011, October 13). Retrieved from http://php.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project _6  7) Polyvore. (2010). Retrieved from http://www.polyvore.com/cartoon_people_world/set?id=16805710
  • 16.  Arroyave, L. (2010, August 08). Cubs' ryan dempster hosting 'south beach' fundraiser at joe's seafood.Chicago Tribune. Retrieved from http://leisureblogs.chicagotribune.com/about-last- night/2010/08/cubs-ryan-dempster-hosting-south- beach-fundraiser-at-joes-seafood.html  Rile'ys milestones. (2009, April). Retrieved from http://dempsterfamilyfoundation.org/about_family/ri leys_milestones/