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Getting a new diagnosis can be daunting, with a maze of information and medical professionals to navigate. We are here to  offer information, education and awareness. 

Many professionals are not aware or well versed about 22q and this can be difficult.  The information provided below is here to help you and your team understand 22q a little better. 

22q11.2 Deletion Syndrome

22q11.2 Deletion Syndrome is a genetic syndrome affecting approx. 1/2000 newborns.  It is the result of a submicroscopic deletion on the long arm of Chromosome 22 in the “q11” region - deletion 22q11. 

Upon initial diagnosis the standard assessments for all ages include but are not limited to:
 

  • Cardiology - approx. 75% of patients with 22q11.2 DS will have a congenital heart defect
     

  • Endocrinology 
     

  • Immunology - 22q Deletion can cause many other problems such as immunodeficiency leading to difficulty fighting infection and autoimmune disease
     

  • Speech/Language/Developmental Assessments - most children will have some form of speech impairment
     

  • A Renal Ultrasound (to check the kidneys)
     

  • X-rays of the neck (in children old enough to cooperate and where the bones are well ossified – so ~ 3 to 4 years of age)
     

Some individuals have many of the above issues and others have almost none. The condition is extremely variable. 

For a full list of recommended assessments please refer to the Practical Guidelines for managing patients with 22q11.2DS

22q11.2 Duplication Syndrome

Is about half as common as the 22q11.2 deletion (found in about 1/4000 newborns).

 

Is caused by an extra piece of genetic material on the 22nd chromosome. In most cases, the extra genetic material contains about 40 genes;


Happens in individuals born with an extra set of genes on chromosome 22. Many people come to attention because someone thought they might have the 22q11.2 deletion syndrome, because they are big or small, because they have a heart defect or palatal abnormality, because they have developmental or behavioral differences or because a relative has it.


Is associated with autism or autism spectrum disorder in 14% to 25% of children with the duplication. However, the true rate of autism may not be known because some individuals with the duplication may not be diagnosed.


About 70 percent of individuals with the duplication inherit it from one of their parents. In other cases, the duplication is not inherited and occurs as a random event during the formation of the child. Any person with the duplication has a 50% chance of having a child with the same duplication.

Source: The International 22q11.2 Foundation

Medical Disclaimer - All content and media on the 22q Foundation Australia & New Zealand website and social media pages are created and published online for informational purposes only. It is not intended to be a substitute for professional medical advice and should not be relied on as health or personal advice. Always seek the guidance of your doctor or other qualified health professionals with any questions you may have regarding your health or medical condition. The foundation does not endorse any information provided by members on our social media pages and recommends members seek professional medical advice before using any suggested treatments. 

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