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

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.

Detalles Bibliográficos
Autores principales: Nguyen, Linda T., Fleishman, Rachel, Flynn, Emilee, Prasad, Rajeev, Moulick, Achintya, Mesia, Cesar Igor, Moyer, Sue, Jethva, Reena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5331229/
https://www.ncbi.nlm.nih.gov/pubmed/28265405
http://dx.doi.org/10.1002/ccr3.815
Descripción
Sumario: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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