Amir Abadi

Infantile 22q11.2 deletion syndrome with secondary monogenic variants following inconclusive whole exome sequencing: a case report

This case highlights the classic expanded phenotype of 22q11.2DS in infancy and demonstrates the technical limitations of WES in identifying microdeletions, and illustrates how parental consanguinity can introduce overlapping or incidental genetic findings (TTN, NEXN, ANO5) that require careful clinical correlation.