Deletion Syndrome Presentation
Published on Nov 19, 2015
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PRESENTATION OUTLINE
DELETION SYNDROME
HOW WAS IT DISCOVERED
The first published description of a person with a 22q11.2 distal deletion was in 1999
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
SOME SIGNS AND SYMPTOMS OF DELETION SYNDROME
- Congenital heart disease
- Physical appearance
- Learning difficulties
- Seizures
BODY SYSTEMS AFFECTED BY THE DISORDER
- Immune system
- Endocrine system
- Neurological system
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
TREATMENT
There is no cure for 22q11.2 deletion syndrome
DIAGNOSED
- with a submicroscopic deletion of chromosome
- 22 detected by fluorescence in situ hybridization
