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Children with 22q11.2 Deletion Syndrome and 22q11.2 Duplication have access to a team of expert clinicians, ongoing support, medical care and information at The Super Q Express Clinic at Children's Mercy Hospital. Under the directorship of Max Feldt, DO, pediatric endocrinologist, the Super Q Express Team provides comprehensive individualized diagnostic and management services in Cardiology, ENT/cleft palate, Endocrinology, Gastroenterology, Genetics, Immunology, and Speech. A social worker and medical coordinator are also present during visits to provide additional support.

Additional medical services can be scheduled and coordinated at each visit. The Super Q Express Clinic is currently being offered on the first Wednesday of each month at Children's Mercy Hospital Kansas and the second Friday of the month at Adele Hall.

22q11.2 Deletion Syndrome

22q11.2 Deletion Syndrome affects as many as 1 in 2,000 to 1 in 4,000 persons worldwide. Formerly known as DiGeorge syndrome, velocardiofacial syndrome, and Sphrintzen syndrome, 22q11.2 Deletion Syndrome is caused when a small amount of genetic material, termed a microdeletion, is missing on chromosome 22. As a result of the deletion, many body organs may be affected. Not all patients are affected in the same way.

The diagnosis should be considered in any person with one or more of the following features:

  • Certain heart defects present at birth

  • Low calcium levels

  • Immune system problems (i.e. a child with multiple infections)

  • Cleft palate

  • Speech and/or swallowing difficulties

  • Behavior and learning disabilities

22q11.2 Duplication

22q11.2 Duplication is caused by an extra piece of genetic material on the 22nd chromosome. The duplication can cause a wide range of health issues. However, many patients have no noticeable symptoms.

Some symptoms that can occur include:

  • Hypotonia (low muscle tone)

  • Developmental delays

  • Intellectual disability

  • Psychiatric illness

Individuals with 22q duplication may also exhibit any of the features known to be associated with 22q deletion.  

Requests for Consultation

Requests for consultation at the clinic can be made by a family doctor, pediatrician, or specialist by contacting the following:

(816) 960-8820