What is 22q11.2 Deletion Syndrome?

Also known as DiGeorge Syndrome and Velo Cardio Facial Syndrome (VCFS)

22q11.2 Deletion Syndrome (22q) is a relatively common genetic occurrence that appears equally among males and females and across all racial backgrounds. In most cases 22q appears sporadically and babies born with it have no family history of this syndrome. There is nothing a parent did or didn’t do to cause the syndrome. However, people with 22q have a 50% chance of passing it on to their children.

22q11.2 Deletion Syndrome

This syndrome is caused by a very small piece of genetic material, or genes, missing from the long arm (known as the “q” arm) of the 22nd chromosome. The name 22q11.2 actually describes the location of the missing genes. This micro deletion is associated with 185 conditions that can affect nearly every system in the body. While conditions associated with the syndrome vary widely from person to person, some of the more common findings include:

Congenital heart defects
Palate abnormalities
Skeletal abnormalities
Immune system problems
Learning disabilities
Feeding problems
Chronic constipation
Kidney abnormalities
Psychosocial concerns
Hypernasal speech
Developmental milestone delays
Anxiety

Diagnosis and treatment

Because 22q11.2 Deletion Syndrome has such wide ranging and variable characteristics it can often go unrecognized and undiagnosed for years. However, it can be detected by a simple blood test called array comparative genomic hybridization. A FISH (fluorescence in situ hybridization) test may also be used to detect the condition.

Once diagnosed, there is no one plan of treatment for 22q since it affects everyone differently. The treatment and management of a child with 22q must be tailored to the individual based on age and symptoms. Because it is a multisystem disorder, it may be necessary to have multiple, ongoing evaluations, treatments and interventions. However, it is important to note that some children with 22q have few signs or symptoms and require minimal assistance; most others respond well to tailored treatment programs.

What is 22q Deletion Syndrome and how is it diagnosed? By NationwideChildrens

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