22Q Deletion Syndrome

22Q deletion syndrome is a disease that results from the absence of a portion of the 22nd chromosome. This absence of genetic material usually occurs during the division of egg or sperm cells before fertilization. The disorder is genetically passed from a parent in about five to 10 percent of cases.22Q: What is 22q11.2 Deletion Syndrome?

• Heart defects
• Immune deficiencies and autoimmune disease
• Kidney problems
• Cleft palate
• Growth and developmental delays
• Eating and digestive problems
• Hearing problems
• ADHD
• Autism22Q: What is 22q11.2 Deletion Syndrome?

Although there is no cure for 22Q deletion syndrome, there are many treatments to help with the symptoms. Surgery is used to treat heart defects and cleft palate. Medication and supplements can be used to help with growth and Calcium deficiency problems. Physical and speech therapy is often used to help with development. The earlier problems are detected and treated, the better the outcome.22Q: What is 22q11.2 Deletion Syndrome?

22Q deletion syndrome occurs about once or twice in every 4,000 births. The disorder is more common in association with other birth defects, occurring in five percent of those born with a cleft palette and in one to two percent of those born with a congenital heart defect.22Q: What is 22q11.2 Deletion Syndrome?

The content in this page is not a substitute for professional medical advice. Please consult your doctor for more information on 22Q deletion syndrome.

• Children's Hospital of Philadelphia: What Causes the Chromosome 22q11.2 Deletion? | Symptoms...

• ClinicalTrials.gov: 22q Deletion Syndrome Clinical Trials