Basically your friends little girl has a deletion of part of one of the copies of her chromosome 22. The geneticist will be able to give them more information about exactly which bit of chromosome 22 she is missing and if there are others with the same deletion they will be able to give your friend an idea of what to expect in the future. How old is her daughter?
Could you please pass this website address https://www.rarechromo.org/html/home.asp onto your friend as they should find it useful as there is a lot of information on there and Unique are a very useful group to join and have helpline numbers to phone and send out a really good info pack when you join.
This is something I cobbled together for my son's fundraising gig to try and explain in more simple terms something which is very complicated, hope this is of a bit of use.
"Every cell in the human body contains 23 pairs of chromosomes (total of 46 chromosomes in each cell) One member of each pair is inherited from the mother and the other member of the pair from the father.
Chromosomes are made up of DNA. DNA acts as a template for all the proteins made in the body and these proteins have essential roles in making sure our body develops and functions correctly.
With rare chromosome abnormalities DNA may be missing or extra which means that the proteins are either not made at all, made at the wrong time or made in too many copies.
If the amount of material missing or duplicated is very small it is called a microdeletion or microduplication but these can still have widespread impacts.
Defects of Chromosomes 1-22 tend to be far more serious than abnormalities of the sex chromosomes X and Y. Whilst every person with a chromosome abnormality is different (even 2 people with the exact same abnormality can have different effects from it) there are some general characteristics of all the rare chromosome abnormalities.
The vast majority of people with a chromosome abnormality will have learning disabilities and developmental delay. Seizures, muscle tone abnormalities, heart problems and gastrointestinal problems are also very common. This is due to the fact there are many genes contained on each chromosome that code for normal brain development. If people have too much or too little DNA problems can occur with the way the brain develops. The degree of these effects can vary widely depending on the particular chromosome involved, the genes that are affected and the amount of the chromosome that is deleted or duplicated.
Nothing can be done to cure a chromosome abnormality as to do so would mean removing or adding (depending if the child had a duplication or a deletion) all the extra chromosomal material from every one of the billions of cells in the body. Symptoms caused by the abnormality are treated as and when they occur and the best environment possible provided to help the child achieve their full potential."
