Array‐based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL‐like patients identifies disease‐causing copy number variations

Abstract

In two of 115 patients' causative CNVs were found (2%). The remaining identified rare CNVs represent candidates for further evaluation. Rare inherited CNVs may constitute modifiers of, or contributors to, multifactorial VATER/VACTERL or VATER/VACTERL-like phenotypes. Birth Defects Research 109:1063-1069, 2017. © 2017 Wiley Periodicals, Inc.