Phenotype of patients with late diagnosis of 22q11 deletion: a review and retrospective study.

Abstract excerpt

BACKGROUND: Chromosome 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome, typically presenting in neonates with congenital cardiac anomalies, hypocalcaemia and thymic hypoplasia. Some patients are diagnosed later in adolescence and adulthood, with less known about the clinical phenotype of these patients. AIM: To summarise key clinical features in cases of 22q11DS diagnosed during...

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