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Deletion Syndrome Presentation
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Published on Nov 19, 2015
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PRESENTATION OUTLINE
1.
DELETION SYNDROME
2.
HOW WAS IT DISCOVERED
The first published description of a person with a 22q11.2 distal deletion was in 1999
3.
RESEARCH
The features of 22q11.2 distal deletion syndrome .
Bare likely to be the result of the loss of a number of different
genes found in this region
4.
SOME SIGNS AND SYMPTOMS OF DELETION SYNDROME
Congenital heart disease
Physical appearance
Learning difficulties
Seizures
5.
BODY SYSTEMS AFFECTED BY THE DISORDER
Immune system
Endocrine system
Neurological system
6.
CAUSE OF DELETION SYNDROM
caused by genetic deletions (loss of a small part of the genetic material)
found on the long arm of one of the two 22nd chromosomes
7.
TREATMENT
There is no cure for 22q11.2 deletion syndrome
8.
DIAGNOSED
with a submicroscopic deletion of chromosome
22 detected by fluorescence in situ hybridization
9.
SOURCES
http://en.wikipedia.org/wiki/DiGeorge_syndrome#Symptoms
http://www.socialstyrelsen.se/rarediseases/22q11deletionsyndrome#anchor_6
http://www.medicinenet.com/1p36_deletion_syndrome/article.htm
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