New Diagnosis of 22q11.2 
Deletion Syndrome

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 about 22q11.2 Deletion Syndrome.

For information regarding the 22q11.2 Duplication please refer to International 22q Foundation.


Many professionals are not aware or well versed about 22q11.2 DS and this can be difficult.  

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

  • Cardiology

  • Endocrinology

  • Immunology

  • Speech/Language/Developmental Assessments

  • 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)

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