title: ESOPHAGEAL ATRESIA WITH RECURRENT TRACHEOESOPHAGEAL FISTULAS AND MICRODUPLICATION 22q11.23.
abstract: The microduplication 22q11.2 syndrome has a wide range of clinical manifestations. The phenotype ranges from normal to mental retardation and congenital anomalies. Esophageal atresia/tracheoesophageal fistula (EA/TEF) has recently been linked with the Tbx1 gene mutation located on the long arm of chromosome 22(22q11.21). We report a case with 1.4 Mb 22q11.23 duplication detected by array-CGH. The father of this infant has the same interstitial microduplication but with a normal phenotype. The phenotype seen in our case is type C (3B) esophageal atresia, tracheoesophageal fistula, and ventricular septal defect. Our patient underwent primary repair of OA/TEF malformations, which was later complicated by pneumonia and a recurrent TEF.
authors.forename: S
authors.initials: S
authors.lastname: Puvabanditsin
authors.forename: E
authors.initials: E
authors.lastname: Garrow
authors.forename: M
authors.initials: M
authors.lastname: February
authors.forename: E
authors.initials: E
authors.lastname: Yen
authors.forename: R
authors.initials: R
authors.lastname: Mehta
mesh_terms: D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004933:Esophageal Atresia / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D014138:Tracheoesophageal Fistula / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*