Abstract

The haploinsufficiency of chromosome 22q11.2 can cause both DiGeorge and velocardiofacial syndromes, both of which are characterized by conotruncal heart defects as well as a wide range of other extracardiac anomalies. Several studies have demonstrated that approximately 10–20% of patients with conotruncal heart defects have a 22q11.2 deletion.

In clinical laboratories, the deletion is usually detected by fluorescent in situ hybridization (FISH). We set up a polymerase chain reaction-based non-radioactive method for molecular analysis of the 22q11.2 region in conotruncal cardiac patients with conotruncal defects.

Sixty-four children with conotruncal defects and their parents were genotyped by polymerase chain reaction, using fifteen polymorphic markers. We identified nine deletions (confirmed by FISH): eight were “de novo” and one familial, maternally inherited. Six deletions were of paternal and three of maternal origin. There were seven deletions of 3 Mb and the other two were of 1.5 Mb.

This method is a cost-effective means of characterizing the 22q11.2 region and it can be applied for a rapid screening of 22q11.2 deletion in patients at risk. In agreement with previously published data, we found no correlation between the sizes and the parental origin of deletions and cardiac or extra-cardiac phenotypes.