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DiGeorge Syndrome

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Emily McCloskey

on 11 March 2014

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Transcript of DiGeorge Syndrome

By: Emily McCloskey
22q11.2 deletion syndrome
velocardiofacial syndrome
conotruncal anomaly face syndrome
Other names for DiGeorge Syndrome
Causes For The Disorder
Abnormal migration and development of certain cells and tissues during fetal development.
Gene or Chromosome affected by disorder
Small deletion in chromosome number 22.
Symptoms of DiGeorge Syndrome
Patients with DGS may have any or all of the following
unusual facial appearance
heart defects
thymus gland abnormalities
miscellaneous clinical features
auto immunity
parathyroid gland abnormalities

Population affected
The rate of occurrence is estimated at approximately 1 in 4,000 live births.
How it is inherited?
It is not passed on from mother or father of the child.
Medical assistance for affected child
Immunologic care for patients with DGS includes monitoring the overall immune system.
The outlook of people with DGS depends on the function of each affected organ system.
Treatments and cures
Management includes any combination of the following: allergy, audiology, cardiology, cardiac surgery, child development / psychology, and many more.
Could this disorder be prevented
To catch this early you may need a genetic test.
Possible cures for this disease
Thymus transplant
Stem cell transplant
DiGeorge Syndrome
DiGeorge Syndrome
Youtube video about DiGeorge Syndrome
Punnet Square
Graphic Representation of karotype
Pedigree showing family history
Prenatal Tests for DiGeorge Syndrome
There is molecular genetic testing which uses the FISH test, MLPA test, or array studies is possible based on family history or findings on ultrasound.
Preimplantation genetic diagnosis may be an option for some families in which the disease-causing mutation has been identified.
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