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.

8 thoughts on “Toddler Born With Ultra Rare 22q11 Triplication on Chromosome 22 – Family Seeks To Connect With Others”

  1. Nobel Gustov says:

    One of our children has a 22Q Triplication. We live in the U.S. Please feel free to contact us.

  2. Ramona Calfont says:

    Hello nobel…i live the same case with my little boy who has triplication 22q11..please just tell a little bit about ur experiance with ur son or girl
    Ramona Paris france
    thx

  3. Donia Ryman says:

    My infant daughter, Khloe, was born 12 weeks early. She has triplicatiion of 22 q11 and also a duplication of 5. She is now 12 months and 1 week but is only the size of a 4 month old, weighing less than 13 pounds. She also has kidney reflux, a uretracele, and what looks like one complete kidney but the other is split with different collecting systems. She also has only 11 ribs on each side. We are looking for more information so any help or advice is appreciated.

  4. cassandra says:

    I have two daughters with the triplication of chromosome 22. No one seems to be able to tell me anything about it. My four year old is mentally handicap. They put her on the spectrum to get her services even though she has features that are not that of autism. My one and a half year old is just slightly delayed and appears to learn things very quickly. In fact they say that she can do things that babies her age can’t. Her only problem is a deformality in both her big toes that is going to be fixed with surgery. Does anyone know anything about the triplication chromosome that might be helpful?

  5. sandy says:

    Anyone who has children with the triplication can connect on the following web page:

    https://www.facebook.com/pages/Triplication-22q112/200346263335620

  6. yuli says:

    Mi hijo tiene triplicacion cromosoma 22q12.3 ademas delecion cromoso 1 y es muy raro quiero informacion gracias

  7. Sandy says:

    This is not “ultra rare”. Genetic testing is still fairly new and unless someone is born with many issues most doctors and/ or parents do not feel the need to do genetic testing. Also, there are not any doctors studying this condition or reporting any findings to medical journals for other doctors to see. Therefore, parents are being told this is ultra rare. Like many of you, we were told our son was the only other known person in the world to have this condition and clearly, that is not true.

  8. Update: M y daughter underwent open heart surgery in December 2013, for sub-aortic stenosis 75% (thickening of the aortic wall). She also has some bone malformation on her big toes. Her hearing has slightly deteriorated, which apparently will continue as she gets older but we don’t know at what rate. She also has dyslexia and slight dyspraxia affecting some fine motor skills, (mostly cutting with cutlery). Otherwise she is a happy and healthy teenager, who loves her sports. Is very popular and doing well.

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