22q11.2 Deletion Syndrome

Dear Colleagues,

The 22q11.2 deletion syndrome (22q11.2DS) is the most common genomic disorder, with the prevalence of 1 in 2000 to 1 in 4000 livebirths. Despite the well-characterized primary cause of the disease, the variability of the clinical picture is extremely high. More than 180 clinical features, both physical and behavioral, have been described, but no single clinical feature occurs in 100% of cases. Phenotypic variability is a major source of misdiagnosis in patients with 22q11 deletion. Additionally, despite its frequency, this syndrome is still little known among specialists.

Recent extensive research studies have shown the genetic complexity of the syndrome and the influence of other genetic modifiers, apart from deletion of the 22q11 region, on the phenotypic diversity of patients.

This Special Issue will be a collection of both reviews and original research manuscripts, providing an overview of current knowledge on different aspects of diagnostics, treatment, and management of children and adults with the 22q11 deletion syndrome.

Dr. Beata Nowakowska
Prof. Donna M. McDonald-McGinn
Guest Editors

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