DiGeorge syndrome, a 22q11.2 deletion syndrome, is caused when a small portion of chromosome 22 is missing. The condition can ...

Objective: We hypothesized that most patients with 22q11.2 deletion and a history of hypocalcemia have inadequate parathyroid function, manifested by intact parathyroid hormone levels below normal.

[Analysis of a twin pregnancy with false negative result for 22q11.2 deletion syndrome by expanded non-invasive prenatal testing]. [Discussion on the status quo and solutions to the prevention and ...

the deletion of 22q11.21-11.23 (bottom) associated with DiGeorge and velocardiofacial syndromes. c) For the inverted duplications, the ideograms and partial karyotypes of two chromosome 15s show ...

The researchers then narrowed the cause among the many genes in the 22q11.2 deletion to a single gene known as CRKL. Gleeson explained that there are nine other genes in this chromosomal region ...