22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ring.
Linda T NguyenRachel FleishmanEmilee FlynnRajeev PrasadAchintya MoulickCesar Igor MesiaSue MoyerReena JethvaPublished in: Clinical case reports (2017)
This case report describes a patient with a 22q11.2 duplication. His features, which include VACTERL association with an esophageal atresia/tracheo-esophageal fistula and a vascular ring, expand the previously described phenotype for this duplication.
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