22q11.2 Deletion Syndrome
Definition
What is 22q11.2 Deletion Syndrome?
This is a disorder caused by deletion of a chromosome 22. The chromosome is deleted in the middle of it giving it the name q11.2.
22q112-deletion-syndrome has many varies and signs and symptoms that can affect the almost the whole body if it occurs. Some examples are a heart defect at birth or an opening in the roof of the mouth, seizures, and face deformation are some of the examples of it. Not everyone who has this defect isn’t are risk for all these defects. If they are able to catch this early though they can get medical treatment to help ease it. With people with theses diseases have a weaker immune system and are easily to see the same infection more than once because of it.
Research
Some Clinical features:
-Weaker Immune Systems
-Low Blood Calcium levels
-Heart Defect
-Clift lip
Symptoms/Signs:
-Heart Defect
-Cleft Plate/Speech difficulties
-Middle Ear/ Hearing loss
-Eating Difficulties
-Kidney Abnormality
-Spinal Problems
-Learning Difficulties and communication problems
-a risk of mental illness, anxiety and depression
Who it affects:
-It affects everyone its not dominate in a male or female
-it affects 1 out of every 2000 to 4000 and about 5-8% get clift lip
Ways to help the individual:
-Have standards that meet and help your child
-Patients as there will be numerous treatments
-Educational programs that help the student stay on task and help family see signs of it
Sources:
https://ghr.nlm.nih.gov – Link about the 22q11.2 deletion syndrome
https://www.stanfordchildrens.org – Stanford Children Hospital/Health
https://www.gemssforschools.org- Has a wide variety of helpful tip