Case reportOpen Access
Phenotypic heterogeneity of Duplication Syndrome 22q11.2: relevance of
genomic DNA analysis
Maria Carolina Florez Polo, Lina Johanna Moreno Giraldo
Background : 22q11.2 duplication syndrome (22q11.2DupS) is a rare autosomal dominant disorder characterized by a broad spectrum of clinical manifestations, including intellectual disability, dysmorphic features, and congenital anomalies. The phe...