Ep. 26 What is 22q with genetic scientist, Dr. Shruti Mitkus, Director of Genetic Education and N...

What is 22q with genetic scientist, Dr. Shruti Mitkus, the Director of Genetic Education and Navigation.

22q11.2 deletion syndrome (22q) can affect any system of the body, however most children with 22q have heart, immune, learning, speech, and/or behavior difficulties. Each person with 22q has their own unique needs, and interdisciplinary team care is the best management approach.

22q is also known as:



• DiGeorge Syndrome (DGS)


• Velocardiofacial Syndrome (VCFS)


• Conotruncal Anomaly Face Syndrome


• Autosomal Dominant Opitz G/BBB Syndrome


• Cayler Cardiofacial Syndrome


• Shprintzen Syndrome



In approximately 1 in 10 families, the deletion is present because one of the parents has the same deletion and passes it on to their baby. As a result, parents of a baby born with this syndrome should have a blood test to determine their chances of having other children with the syndrome.

What Are the Symptoms of 22q Deletion Syndrome?

There are a variety of physical and behavioral disorders that have been linked to 22q11.2 deletion syndrome. The syndrome has the potential to impact every system in the body and can therefore lead to a wide-range of health issues.

The majority of these patients also have congenital heart defects, most often these are conotruncal abnormalities:



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Interrupted aortic arch




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Ventricular septal defect (VSD)




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Vascular ring




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Truncus arteriosus





Or Palatal defects:



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Submucosal cleft palate




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Velopharyngeal dysfunction (VPD) - abnormal nasal air escape and hypernasal speech  





Some of the other common problems include:



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Hypocalcemia




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Immune system disorders, including recurrent ear infections and sinusitis, respiratory infections, and autoimmune diseases




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Kidney disorders – approximately 35 percent of these patients may have a missing or malformed kidney.




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Asymmetric crying facies




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Inguinal, umbilical and diaphragmatic hernias




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Growth problems, sometimes associated with growth hormone deficiency




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Developmental delays, including both language and motor skills delays




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Obsessive-compulsive disorder (OCD)





22q11.2 deletion syndrome is a genetic defect caused by a microdeletion on the long arm (q arm) of the 22 chromosome. 

Since 22q11.2 deletion syndrome has the ability to affect every system of the body, it is important that affected children are treated by a team of pediatric specialists who can identify the variety of physical and psychosocial needs these patients may have. The earlier these symptoms are detected, the more we can do to help. That’s why evaluation is recommended in some or all of the following areas:











• Resonance Disorders Program


• Speech Path...