UDN

Solving Medical Mysteries
Through Team Science

Participant 002

 

Female, age 2 with an undiagnosed condition

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Participant 001

TBX2

 

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.

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