Two years ago, they finally got an answer, Mercy was diagnosed with DiGeorge Syndrome also known as 22q11.2 deletion syndrome. “I had never heard of it, I’ve even talked to doctors who had nev ...

We hypothesized that most patients with the syndrome and a history of hypocalcemia have inadequate parathyroid function, which would be manifested by intact parathyroid hormone (PTH) levels below ...

The second-most common genetic disorder in children is 22q11.2 Deletion Syndrome (22q). The absence of a portion of the 22nd chromosome affects every system in the body and is evident in 1 out of ...