Unknown

Dataset Information

0

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

ABSTRACT: 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.

SUBMITTER: Nguyen LT 

PROVIDER: S-EPMC5331229 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

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

Nguyen Linda T LT   Fleishman Rachel R   Flynn Emilee E   Prasad Rajeev R   Moulick Achintya A   Mesia Cesar Igor CI   Moyer Sue S   Jethva Reena R  

Clinical case reports 20170211 3

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. ...[more]

Similar Datasets

Unknown TWENTY FIVE YEARS OF INTERACTION WITH ESOPHAGEAL ATRESIA AND TRACHEO-ESOPHAGEAL FISTULA.
| S-EPMC5531806 | biostudies-other
Unknown Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology.
| S-EPMC2564549 | biostudies-literature
Unknown COVID-19 pandemic experiences of parents caring for children with oesophageal atresia/tracheo-oesophageal fistula.
| S-EPMC8136802 | biostudies-literature
Unknown Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature.
| S-EPMC2809919 | biostudies-literature
Unknown Microduplication and triplication of 22q11.2: a highly variable syndrome.
| S-EPMC1199375 | biostudies-literature
Unknown Etiology of esophageal atresia and tracheoesophageal fistula: "mind the gap".
| S-EPMC2874026 | biostudies-literature
Unknown Development and validation of a novel 3D-printed simulation model for open oesophageal atresia and tracheo-oesophageal fistula repair.
| S-EPMC8412403 | biostudies-literature
Unknown Retrospective analysis of pneumothorax after repair of esophageal atresia/tracheoesophageal fistula.
| S-EPMC8641193 | biostudies-literature
Unknown Mutational analysis of NOG in esophageal atresia and tracheoesophageal fistula patients.
| S-EPMC4148071 | biostudies-literature
Unknown Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing.
| S-EPMC7852873 | biostudies-literature