What is 22q11.2 Deletion Syndrome?

The 22q11.2 Deletion Syndrome is an abnormality on the twenty-second chromosome that can cause such health problems as heart defects, immune deficiency, cleft palate, developmental delays, learning disabilities and social/emotional issues. Present in one out... MORE

What is 22q11.2 Deletion Syndrome?

The 22q11.2 Deletion Syndrome is an abnormality on the twenty-second chromosome that can cause such health problems as heart defects, immune deficiency, cleft palate, developmental delays, learning disabilities and social/emotional issues. Present in one out of every 2,000-4,000 live births, in 1 in 68 children with congenital heart disease, and in five to eight percent of children born with cleft palate, 22q is almost as common as Down syndrome, a widely recognized chromosomal disorder.

22q is a ".." (loss of chromosomal material) that may or may not run in the family. In fact, only about 10 percent of the time does a parent have the deletion as well. So, if it isn't hereditary what causes it? According to geneticists, the root of the disorder lies within a person's genetic makeup. You see, most people have 23 pairs of chromosomes (46 total), with one of each pair coming from the mother and the other from the father. Numbered one through 22 (the 23rd pair determines the sex of the baby), chromosomes are divided into two parts called the arms. The top part is the "p" arm and the bottom is the "q" arm. People with a 22q deletion have a small part of the "q" arm missing. When the deletion is not present in a parent, it is new (de novo) in the child. It is nothing that the parents did or didn't do to make it happen. It just happens.

While the health effects of 22q vary from patient to patient,
the common medical conditions include:

• Cardiovascular Defects
• Feeding Difficulties
• Gastrointestinal Problems
• Immune System Problems
• Growth Problems
• Palatal Anomalies
• Kidney Differences
• Hearing
• Low Calcium
• Autoimmune Disease
• Spine Differences
• Cognitive and Speech Delay
• Behavioral Differences (e.g.ADHD and Autism)

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