The molecular basis of the renal malformation is unknown; deletion of one or more genes could be responsible. The 22q11.2 microdeletion syndrome is a frequent cause of kidney malformation and ...

Now considered the most prevalent rare genetic disorder, there are actually 186 symptoms for 22q11 Deletion Syndrome, but ...

The team proceeded to analyze MRI scans from 80 people with 22q11.2 deletion syndrome and 68 people without it to determine whether individuals with the syndrome exhibit similar brain abnormalities.

It is the result of the deletion of about 20 genes and affects an estimated 20,000 to 30,000 people in the US, according to the Williams Syndrome Association. People living with the syndrome tend ...