VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report
Surasak Puvabanditsin1, James Van Gurp2, Melissa February1
1a Pediatrics, Rutgers-Robert Wood Johnson Medical School, New Brunswick , New Jersey , USA.
Fetal and Pediatric Pathology
|February 17, 2016
Abstract:
We report a term female neonate with vertebral anomalies, anal and urethral atresia, esophageal atresia with tracheoesophageal fistula (TEF), renal agenesis, pulmonary hypoplasia, genital and sacral appendages, and a single umbilical artery. Genetic studies revealed a 20.91 Mb interstitial deletion of the long arm of X chromosome: Xq25-q27.3. This is a new case of VATER/VACTERL association with Xq25 microdeletion.
