VACTERL Association in a Male Infant with an Additional Genomic Segment on Chromosome 17p

Abstract

The case of a term Thai male infant with VACTERL anomalies including imperforate anus, atrial septal defect, tracheo-esophageal (TE) fistula, and horseshoe kidney with bilateral hydronephrosis whose chromosome study revealed an additional genomic segment of unknown origin on the short arm of chromosome 17 is reported. The karyotype is described as 46, XY, add (17) (p13), which has never been previously reported in VACTERL association.

Keywords

• VACTERL
• VATER
• add (17)
• 17p
• chromosome