22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ring.

Autor: Nguyen LT; Department of Pediatrics Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA., Fleishman R; Department of Pediatrics Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA., Flynn E; Department of Pediatrics Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA., Prasad R; Department of Medical Genetics and Surgery Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA., Moulick A; Department of Medical Genetics and Surgery Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA., Mesia CI; Department of Pediatrics Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA., Moyer S; Department of Medical Genetics and Surgery Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA., Jethva R; Department of Medical Genetics and Genomic Medicine Saint Peter's University Hospital New Brunswisk New Jersey USA.
Jazyk: angličtina
Zdroj: Clinical case reports [Clin Case Rep] 2017 Feb 11; Vol. 5 (3), pp. 351-356. Date of Electronic Publication: 2017 Feb 11 (Print Publication: 2017).
DOI: 10.1002/ccr3.815
Abstrakt: 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.
Databáze: MEDLINE
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