22q Info and Resources
What is 22q?
22q deletion syndrome has had a number of different names over the years (DiGeorge Syndrome, Autosomal Dominant Opitz G, Shprintzen Syndrome among them); as each symptom was discovered over time, it was given a name. With the advancements in molecular genetic reseach, it is now obvious that all of the symptoms were related to one another, and there is a common link.
There is a very small amount of genetic material missing in people with 22q deletion syndrome. The occurrence is now known to happen in 1 out of every 4,000 live births, and ten percent of the time, it’s present because one of the parents also has it and passes to a child.
The genetic material missing is from the long arm of chromosome 22, which is also called the q arm, hence the name 22q deletion syndrome.
What can you do about 22q?
Although there is no cure for 22q, most of the symptoms can be addressed and alleviated. However, it requires a pediatric team that understands the needs these children have. Here are a few resources for treatment options and information:
Symptoms of 22q
Many 22q11.2 patients have congenital heart defects, palatal defects like cleft palate and velopharyngeal dysfunction (VPD,) which
h often becomes apparent because of hypernasal speech and abnormal air escape. They can also have ventricular septal defects (VSD,) aortic arch, kidney problems, gastrointestinal issues, hearing loss and vascular ring problems. You can find out more infomation about the signs and symptoms of 22q at the NIH site.