EDUCATING CHILDREN

Genetic counselling is usually offered to parents with a child that is diagnosed with DiGeorge syndrome/VCFS and blood samples are tested to find out if one of them has the deletion. The test is called FISH which stands for 'Fluorescence In-Situ Hybridisation'. In basic terms, a piece of replicated DNA is propelled towards the 22nd chromosomes. If it sticks to a matching piece of DNA it lights up. If it doesn't light up then there is no matching piece on the chromosome and so there is a deletion.

If the parents' chromosomes are normal, then the chance of having a further baby with the deletion is quite low (less than 1%).

If one parent has the deletion then that person has a 50% chance of passing it on to each of their children, (it is termed "autosomal dominant"), the chance of having more than one child affected is random.

N.B. It is important to point out that it is not possible to predict the degree to which an individual is affected by the deletion. There may be multiple problems or no problems. Also the degree of severity of those problems is very variable. For example from a very mild heart problem to a very severe heart problem, or no heart problem at all.