My son and I have a duplication of the 11th strand of Chromosome 22, a variation of 22q11, this has no obvious side effects but it appears to have been inherited solely through myself.
My daughter has a triplication, which is even rarer. We know of one other case in the UK, although they are slightly younger than my daughter. She is deaf (profound on the left and severe/moderate on the right), has a heart murmur (now signed off cardiology), irregular kidneys (also signed of as no problems detected) and was born with a cleft soft palette and bifid uvula, which was rectified at two years old.
Very little is known about duplications and even less about triplications as deletions are more common. I would appreciate hearing from anyone else with either diagnosis.
Editor’s Note: The following information may be helpful to all those who are looking for further support and information related to chromosome 22 deletions.