title: VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report.
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.
authors.affiliation: a Pediatrics, Rutgers-Robert Wood Johnson Medical School, New Brunswick , New Jersey , USA.
authors.forename: Surasak
authors.initials: S
authors.lastname: Puvabanditsin
authors.affiliation: b Pathology, Rutgers-Robert Wood Johnson Medical School, New Brunswick , New Jersey , USA.
authors.forename: James
authors.initials: J
authors.lastname: Van Gurp
authors.affiliation: a Pediatrics, Rutgers-Robert Wood Johnson Medical School, New Brunswick , New Jersey , USA.
authors.forename: Melissa
authors.initials: M
authors.lastname: February
authors.affiliation: a Pediatrics, Rutgers-Robert Wood Johnson Medical School, New Brunswick , New Jersey , USA.
authors.forename: Marwa
authors.initials: M
authors.lastname: Khalil
authors.affiliation: a Pediatrics, Rutgers-Robert Wood Johnson Medical School, New Brunswick , New Jersey , USA.
authors.forename: Julia
authors.initials: J
authors.lastname: Mayne
authors.affiliation: a Pediatrics, Rutgers-Robert Wood Johnson Medical School, New Brunswick , New Jersey , USA.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Ai McConnell
authors.affiliation: a Pediatrics, Rutgers-Robert Wood Johnson Medical School, New Brunswick , New Jersey , USA.
authors.forename: Rajeev
authors.initials: R
authors.lastname: Mehta
mesh_terms: D001003:Anal Canal / Q000002:abnormalities*; D001006:Anus, Imperforate / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D004947:Esophagus / Q000002:abnormalities*; D005260:Female; D017353:Gene Deletion; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D017880:Limb Deformities, Congenital / Q000235:genetics*; D011884:Radius / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*; D014132:Trachea / Q000002:abnormalities*
keywords: VATER/VACTERL association; Xq25-q27.3 deletion; congenital anomalies; neonate