Open Access22q11.2 microduplication syndrome with associated esophageal atresia/tracheo‐esophageal fistula and vascular ring
Author(s) -
Nguyen Linda T.,
Fleishman Rachel,
Flynn Emilee,
Prasad Rajeev,
Moulick Achintya,
Mesia Cesar Igor,
Moyer Sue,
Jethva Reena
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.815
Subject(s) - medicine , atresia , vascular ring , fistula , tracheoesophageal fistula , gene duplication , surgery , aortic arch , aorta , gene , biochemistry , chemistry
Key Clinical Message 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.