VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report.

Authors :: Puvabanditsin S
Van Gurp J
February M
Khalil M
Mayne J
Ai McConnell J
Mehta R
Source :: Fetal and pediatric pathology [Fetal Pediatr Pathol] 2016; Vol. 35 (2), pp. 133-41. Date of Electronic Publication: 2016 Feb 16.
Publication Year :: 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.

Subjects :: Female
Humans
Infant, Newborn
Anal Canal abnormalities
Anus, Imperforate genetics
Chromosomes, Human, X genetics
Esophagus abnormalities
Gene Deletion
Heart Defects, Congenital genetics
Kidney abnormalities
Limb Deformities, Congenital genetics
Radius abnormalities
Spine abnormalities
Trachea abnormalities

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