The evaluation of DiGeorge syndrome gene deletion using molecular cytogenetic techniques

Background Di-George Syndrome (DGS) is known as 22q11.2 deletion syndrome. It is a genetic disorder that is being recognized with increasing frequency with a documented incidence of approximately 1 in 4000 and is the most common human deletion syndrome, typically present early in life and is rarely appearing in adult patients (1). Micro-deletion of chromosome 22q11.2 is one of the most clinically variable syndromes, with more than 180 features associated with the deletion. The syndrome is caused by genetic deletions (loss of a small part of the genetic material) found on one of the two 22nd chromosomes (2). Very rarely, patients with similar clinical features may have deletions on the chromosome 10. An accurate diagnosis is needed for the proper management of affected cases. Diagnosis relies on conventional cytogenetic and Fluorescent In Situ Hybridization (FISH) techniques. The newly developed technique, array Comparative Genomic Hybridization (aCGH), allows