The things you need to know about this disease.
DiGeorge Syndrome, AKA 22q11.2 Deletion Syndrome, is a rare disease that is most always found in infants. It is caused by abnormal cell migration and certain cells that develop at the wrong time. It's not fatal, but causes major facial and heart defects and learning disabilities. It can usually be detected around the 18th week of pregnancy. It is passed dominantly, so if only one of you has the dominant trait, one of your children may get it. There is no cure, but treatments such as eating calcium acetate every day or having palatoplasty, which is used to correct cleft palates, would be needed.
Chromosome 22 (q11.2)
This is Chromosome 22, which the q11.2 part is what is getting deleted.
Facial Areas Affected and Results
These are some of the areas affected by DiGeorge Syndrome and what it might look like. It depends on the severity of the disease.
The disease is passed dominantly, so if one of you has or carries the disease, chances would be that one of children would have 22q11.2 Deletion.