Female, age 2 with an undiagnosed conditionRead More
Male, age 8 with features of DiGeorge syndrome. DiGeorge syndrome is a condition that can cause multiple medical problems, including heart defects, poor immune system function, a cleft palate, and delayed development. DiGeorge syndrome is also known as 22q11.2 deletion syndrome and velocardiofacial syndrome, and is typically caused by a deletion on chromosome 22.
The participant’s mother and sister are similarly affected, but testing for the deletion on chromosome 22 has been negative.Read More