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.   That is how my father passed it on to me and my siblings and I passed it on to my daughter.

The common traits in our family is hypocalciuma and Low Iron. We all have our thryoids tested and functioning fully. We have all had test after test and each of us have different treatments because it affects even those of in the same family different which is why I advocate for newborn screening of Chromosomal disorders. Early testing and prevention is key to understanding.


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: Some of the most common characteristics include: Ptosis (droopy eyelid), a pointed chin, prominent poorly formed ears, puffy hands, thin flaky toenails, wide nasal bridge, hypotonia (poor muscle tone), tendency to overheat, and lack of perspiration. Behavioral characteristics include chewing on nonfood items (clothing, bedding, toys) – teeth grinding, tongue thrusting, hair pulling, aversion to clothes, decreased the perception of pain and anxiety in social situations. Many children fall somewhere in the autism spectrum. Some medical issues include seizures, chronic diarrhea, macrocephaly, reactive airway disease (asthma). Very few of the children have speech or toilet training skills.  

However, in our family we have very few of these traits listed above. As you can tell from when you read my blog.  We are not a one size fits all diagosnes even with so many of us in our family having it effect us. For example my 10 year old has cerebral palsy a very mild form the rest of us do not have cp. Another example is I have gasteroparises the rest of the members in my family does not have gasteroparises. I could go on but I think you get the point by now. There is a list of suggetions so doctors can look and test others who have simuar issues and look out for later on down the road for example we do deal with aniexity issues but it varies from one of us to the next. My 6 year old brother passed away in his sleep from a brain hemmerage. I am 34 and still thriving and lviing and even raising my own family living in a different country then my family and having my own life.



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

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

Tell someone about 22Q!

amanda ripsam