What it is
Most cases happen by chance, but a parent with the deletion has a 1 in 2 chance of passing it on.
There is no cure, but each problem can be treated, for example with heart surgery, calcium supplements, speech therapy and educational support. Many people live full adult lives.
Common signs
- A heart defect found at birth
- A cleft palate or feeding problems
- Frequent infections
- Low calcium causing muscle spasms or seizures
- Delayed speech and learning difficulties
How it is usually diagnosed
- Genetic testing (microarray or FISH)
- Heart scans, calcium and immune tests
Records worth keeping
Keeping these together makes each appointment easier, especially when you see a new doctor:
- Genetic test results
- Heart scan and operation reports
- Calcium and immune test results
- Therapy and school support plans
Questions to ask your doctor
- Which parts of the body need checking, and how often?
- Should we be tested as parents?
- Which vaccines are safe for our child?
When to get help right away
Call 112 or go to the nearest emergency department if you have:
- Seizures, muscle spasms, a baby with blue lips or breathing difficulty: call 112
This page is general information. It is not a diagnosis and does not replace a doctor who knows your history. Medfold keeps your records organised; it does not interpret them.