Abstract:22q11.2 microdeletion is the most common microdeletion syndrome in humans and occurs with a frequency of 1 in 2,000-6,000 live births. Its main clinical features are associated with a failure to form derivatives of the third and fourth branchial arches during embryonic development. The phenotype includes heart outflow tract defects, craniofacial dysmorphisms (prominent and bulbous tip, external ears malformations, and posterior cleft palate) and endocrinological and immune system dysfunctions, as well as neuro… Show more
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