DELETION SYNDROME

HOW WAS IT DISCOVERED

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

DIAGNOSED

• with a submicroscopic deletion of chromosome
• 22 detected by fluorescence in situ hybridization

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