Clinical manifestations in a cohort of 32 children with 22q11 deletion syndrome

Objectives. Aim of this study was to investigate clinical findings, presenting signs and symptoms in a cohort of 32 children with 22q11.2 deletion syndrome, focusing on unusual clinical presentations. Methods. The study comprised 130 children (72 male; 58 female, age range: 3 days-15 years) admitted to the Department of Paediatrics, University of Turin during the period 1997-2005. Patients were studied by G-banded standard cytogenetic and FISH analysis. Results. FISH analysis revealed del22q11.2 in 32/130 patients. Typical craniofacial dysmorphisms were present in all patients with detected deletion; frequency of other congenital malformations observed was consistent with the literature. Four patients, not affected by cardiopathy, had an unusual clinical presentation. Conclusions. Testing for deletion 22q11.2, in patients with congenital heart disease, can be restricted to those patients presenting additional features of the 22q11 deletion syndrome, first of all craniofacial dysmorphisms. Deletion detection rate improved when selection of patients was performed by a paediatric geneticist and based on dysmorphologic evaluation. The presenting symptom of 22q11 deletion syndrome is usually a cardiac defect but general paediatricians and other specialists must suspected a 22q11 deletion syndrome in children with mild craniofacial dysmorphisms associated with apparently isolated signs or symptoms of the syndrome.