A Mutation on the 22 nd Chromosome DiGeorge Syndrome
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/