This document summarizes Digeorge syndrome, which is caused by a genetic mutation on the 22nd chromosome that results in the deletion of a portion of it. Key characteristics include poor development of body systems due to a shrunken or missing thymus gland, which can cause issues with the immune system and other organ development. It occurs in about 1 in 4,000 births and is a lifelong condition.

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/