DiGeorge II LPU015

Deletions of 22q11.2 are found in 90% of patients with DiGeorge Syndrome (DGS). However, alternative deletions on 10p13.14 have been shown in some patients with DGS. A gene within the 300Kb minimal region of DGS2, BRUNOL3, has been identified and is a candidate gene for the heart defect and thymus hypoplasia/aplasia in these patients.

To provide as complete a set of DiGeorge microdeletion probes as possible, Cytocell has developed a probe to detect the deletion of BRUNOL3 on 10p14 to add to its 22q probes, TUPLE1, N25 and TBX1.