A Mutation on the 22nd Chromosome

DiGeorge Syndrome

Dr. Angelo Mari DiGeorge (1921-2009)

1.

Graduated 1946 from Temple UniversityIn WWII, served as a medical officer in Linz,

Germany (where Adolf Hitler grew up)In 1953, became a professor at TempleHe 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

About Dr. DiGeorge

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

systemsThe underlying cause is a shrunken or

missing thymus gland

What is DiGeorge Syndrome?

Chromosome 22 Contains 500

to 800 genesGenes codes

for the development of the thymus gland are missing

Region known as 22q11.2Contains 30-

40 genes

2.

Autosomal Dominant Inheritance?

3.

Specialization in the 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

Thymus Gland4.

Shrinkage of parathyroid glands- results in hyposecretion of PTH (parathyroid hormone)

Messes up regulation of calcium and phosphorusBluish skin (poor circulation of oxygen) – cyanosisDelayed speech developmentCleft palate can usually be surgically repairedSpasms of the mouth and throat (tetany)Frequent infections due to decline in immune

systemLow set ears, wide set eyes, or a narrow groove in

the upper lip

Symptoms and Complicati0ns

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

CATCH 22 Syndrome

DSG occurs in one infant per 4,000 bornIt is a lifelong condition that affects mostly

children and infantsApproximately one-third of affected adults

experience recurring infections 7.

Affected Population

It can happen to ANYONE…Pitcher for the Chicago CubsIn 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.

Tracheostomy and Passy-Muir Valve

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/doctor.cfm/2047.html

Works Cited

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

Picture Citations

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/rileys_milestones/