A recent study explores the genetic diversity in clinically suspected 22q11.2 deletion syndrome, identifying phenocopies that may complicate diagnosis. This research highlights the need for comprehensive genetic testing in patients suspected of having this syndrome.
phenocopies of 22q11 2ds revealing genetic diversity in clinically suspected 22q11 2 deletion syndrome
Original title: “Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome.”